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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut TNFRSF9 3604 broad.mit.edu 37 1 7993221 7993221 + Splice_Site SNP C C G rs139075597 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:7993221C>G uc001aot.2 - 7 807 c.679_splice c.e7+1 p.P227_splice NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) GTTAATCTTACGTTGTTTGAA 0.368 NA 3 34 0 0 0.004672 0 0 MTOR 2475 broad.mit.edu 37 1 11297961 11297961 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:11297961C>T uc001asd.2 - 13 2268 c.2147G>A c.(2146-2148)GGC>GAC p.G716D NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 716 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 ACTGAGTCGGCCCACAGTGCA 0.572 NA 4 73 0 0 0.009096 0 0 UBR4 23352 broad.mit.edu 37 1 19482030 19482030 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:19482030A>C uc001bbi.2 - 43 6209 c.6205T>G c.(6205-6207)TAC>GAC p.Y2069D UBR4_uc001bbl.1_Missense_Mutation_p.Y6D|UBR4_uc001bbm.1_Missense_Mutation_p.Y1280D NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2069 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) GTATAGATGTACCCAGCCGAA 0.433 NA 8 81 0 0 0.006214 0 0 CELA3A 10136 broad.mit.edu 37 1 22333950 22333950 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:22333950G>T uc001bfl.2 + 6 603 c.584G>T c.(583-585)GGT>GTT p.G195V NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 195 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 AACTGGTGGGGTTCCACCGTG 0.597 NA 15 45 8.60227e-14 1.15759e-13 0.004007 1 0 NIPAL3 57185 broad.mit.edu 37 1 24786969 24786969 + Splice_Site SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:24786969A>G uc001bjh.2 + 10 1270 c.863_splice c.e10-2 p.G288_splice NIPAL3_uc001bjg.2_Splice_Site_p.G288_splice|NIPAL3_uc009vrc.2_Splice_Site_p.G206_splice|NIPAL3_uc001bji.2_Splice_Site_p.R96_splice NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 integral to membrane 0 TTGCTGCTGCAGGTGCAATAT 0.473 NA 8 50 0 0 0.004482 0 0 SYF2 25949 broad.mit.edu 37 1 25555610 25555610 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:25555610T>G uc001bjt.1 - 3 192 c.137A>C c.(136-138)GAA>GCA p.E46A SYF2_uc001bju.1_Intron|SYF2_uc010oeo.1_Missense_Mutation_p.E46A NM_015484 NP_056299 O95926 SYF2_HUMAN SYF2 homolog, RNA splicing factor isoform 1 46 catalytic step 2 spliceosome 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201) TTTACGAGCTTCATTCTAAAA 0.383 NA 29 68 0 0 0.005443 0 0 IFI6 2537 broad.mit.edu 37 1 27994737 27994737 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:27994737C>G uc001boo.1 - 4 421 c.298G>C c.(298-300)GGG>CGG p.G100R IFI6_uc001bon.1_Missense_Mutation_p.G108R|IFI6_uc001bop.1_Missense_Mutation_p.G104R NM_002038 NP_002029 P09912 IFI6_HUMAN interferon, alpha-inducible protein 6 isoform a 100 anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway integral to membrane|mitochondrion protein binding ovary(1) 1 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) CCGCACTCACCGAGGCTCTGC 0.493 NA 3 2 0 0 0.009096 0 0 PTPRU 10076 broad.mit.edu 37 1 29587414 29587414 + Silent SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:29587414A>C uc001bru.2 + 7 1253 c.1143A>C c.(1141-1143)GCA>GCC p.A381A PTPRU_uc001brv.2_Silent_p.A381A|PTPRU_uc001brw.2_Silent_p.A381A|PTPRU_uc009vtq.2_Silent_p.A381A|PTPRU_uc009vtr.2_Silent_p.A381A NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 381 Extracellular (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) CCAAATGCGCAGGTGGGTGCA 0.652 NA 11 20 0 0 0.000978 0 0 PUM1 9698 broad.mit.edu 37 1 31532281 31532281 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:31532281G>C uc001bsi.1 - 2 246 c.133C>G c.(133-135)CAA>GAA p.Q45E PUM1_uc001bsh.1_Missense_Mutation_p.Q45E|PUM1_uc001bsj.1_Missense_Mutation_p.Q45E|PUM1_uc010oga.1_Missense_Mutation_p.Q45E|PUM1_uc001bsk.1_Missense_Mutation_p.Q81E|PUM1_uc010ogb.1_Missense_Mutation_p.Q81E NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 45 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) GGCTGCGCTTGCGACCCTGTT 0.552 NA 6 92 0 0 0.001168 0 0 ZNF362 149076 broad.mit.edu 37 1 33760575 33760575 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:33760575C>T uc001bxc.1 + 7 1116 c.946C>T c.(946-948)CCT>TCT p.P316S NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN zinc finger protein 362 316 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) GTGCCCACATCCTGGCTGCGA 0.622 Pancreas(162;1431 2676 35353 38425) NA OREG0013342 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 28 0 0 0.008291 0 0 CSMD2 114784 broad.mit.edu 37 1 34090212 34090212 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:34090212C>T uc001bxn.1 - 35 5441 c.5412G>A c.(5410-5412)AGG>AGA p.R1804R CSMD2_uc001bxm.1_Silent_p.R1844R|CSMD2_uc001bxo.1_Silent_p.R717R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1804 CUB 11.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGATGGTGCCCCTGCGCTCTG 0.642 NA 5 65 0 0 0.000602 0 0 GRIK3 2899 broad.mit.edu 37 1 37356572 37356572 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:37356572A>T uc001caz.2 - 2 376 c.241T>A c.(241-243)TAT>AAT p.Y81N GRIK3_uc001cba.1_Missense_Mutation_p.Y81N NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 81 Extracellular (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) TGTATGTCATAGGTCAAGGTT 0.542 NA 36 178 0 0 0.003755 0 0 CTPS 1503 broad.mit.edu 37 1 41474345 41474345 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:41474345G>A uc001cgk.3 + 15 1916 c.1408G>A c.(1408-1410)GAC>AAC p.D470N CTPS_uc010ojo.1_Missense_Mutation_p.D239N|CTPS_uc001cgl.3_Missense_Mutation_p.D470N|CTPS_uc010ojq.1_Missense_Mutation_p.D314N|CTPS_uc009vwe.2_Intron NM_001905 NP_001896 P17812 PYRG1_HUMAN CTP synthase 470 Glutamine amidotransferase type-1. CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug cytosol ATP binding|CTP synthase activity|protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) L-Glutamine(DB00130) ACTCTATGGAGACGCAGACTA 0.473 NA 8 116 0 0 0.004482 0 0 ZSWIM5 57643 broad.mit.edu 37 1 45506070 45506070 + Nonsense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:45506070T>A uc001cnd.2 - 7 1978 c.1750A>T c.(1750-1752)AAG>TAG p.K584* NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 584 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) ATACCTTTCTTCTGATGCTTG 0.433 NA 13 113 0 0 0.00245 0 0 STIL 6491 broad.mit.edu 37 1 47746387 47746387 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:47746387T>A uc001crc.1 - 12 1898 c.1743A>T c.(1741-1743)TCA>TCT p.S581S TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.S534S|STIL_uc010omo.1_Silent_p.S581S|STIL_uc001crd.1_Silent_p.S581S|STIL_uc001cre.1_Silent_p.S581S|STIL_uc001crf.1_Silent_p.S194S|STIL_uc001crg.1_Silent_p.S534S NM_003035 NP_003026 Q15468 STIL_HUMAN SCL/TAL1 interrupting locus isoform 2 581 cell proliferation|multicellular organismal development centrosome|cytosol lung(2)|skin(1) 3 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) TTGGTCTTCCTGAATTATGGG 0.438 NA 37 105 0 0 0.003755 0 0 DAB1 1600 broad.mit.edu 37 1 57480745 57480745 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:57480745G>T uc001cys.1 - 14 1929 c.1255C>A c.(1255-1257)CAG>AAG p.Q419K DAB1_uc001cyt.1_Missense_Mutation_p.Q417K|DAB1_uc001cyq.1_Missense_Mutation_p.Q417K|DAB1_uc001cyr.1_Missense_Mutation_p.Q333K|DAB1_uc009vzw.1_Missense_Mutation_p.Q401K|DAB1_uc009vzx.1_Missense_Mutation_p.Q419K NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 452 cell differentiation|nervous system development skin(2)|ovary(1) 3 TGGGCCATCTGGAAATCCTTA 0.597 NA 9 51 3.09899e-07 3.65672e-07 0.004482 1 0 DAB1 1600 broad.mit.edu 37 1 57480986 57480986 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:57480986G>A uc001cys.1 - 14 1688 c.1014C>T c.(1012-1014)CCC>CCT p.P338P DAB1_uc001cyt.1_Silent_p.P336P|DAB1_uc001cyq.1_Silent_p.P336P|DAB1_uc001cyr.1_Silent_p.P252P|DAB1_uc009vzw.1_Silent_p.P320P|DAB1_uc009vzx.1_Silent_p.P338P NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 371 cell differentiation|nervous system development skin(2)|ovary(1) 3 CCCATGCGATGGGCTGAGCCC 0.662 NA 23 81 0 0 0.00278 0 0 DAB1 1600 broad.mit.edu 37 1 57528586 57528586 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:57528586A>G uc001cys.1 - 11 1368 c.694T>C c.(694-696)TAT>CAT p.Y232H DAB1_uc001cyt.1_Missense_Mutation_p.Y232H|DAB1_uc001cyq.1_Missense_Mutation_p.Y197H|DAB1_uc001cyr.1_Missense_Mutation_p.Y113H|DAB1_uc009vzw.1_Missense_Mutation_p.Y197H|DAB1_uc009vzx.1_Missense_Mutation_p.Y232H NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 232 cell differentiation|nervous system development skin(2)|ovary(1) 3 GGCACATCATAAACACCTTCC 0.448 NA 16 40 0 0 0.003163 0 0 JAK1 3716 broad.mit.edu 37 1 65300289 65300289 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:65300289T>A uc001dbu.1 - 25 3670 c.3421A>T c.(3421-3423)AGC>TGC p.S1141C JAK1_uc009wam.1_Missense_Mutation_p.S1129C|JAK1_uc009wal.1_Missense_Mutation_p.S318C NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 1141 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) TTCTGAAAGCTTGTCCGATTG 0.338 NA Mis ALL 17 55 0 0 0.008871 0 0 TCTEX1D1 200132 broad.mit.edu 37 1 67243129 67243129 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:67243129C>T uc001dcv.2 + 5 663 c.532C>T c.(532-534)CTT>TTT p.L178F TCTEX1D1_uc009wau.2_RNA|TCTEX1D1_uc009wav.2_RNA NM_152665 NP_689878 Q8N7M0 TC1D1_HUMAN Tctex1 domain containing 1 178 0 TGCAGTTTACCTTGAGTGATT 0.363 NA 17 76 0 0 0.00499 0 0 GNG12 55970 broad.mit.edu 37 1 68173367 68173367 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:68173367C>G uc001dea.1 - 3 195 c.3G>C c.(1-3)ATG>ATC p.M1I NM_018841 NP_061329 Q9UBI6 GBG12_HUMAN G-protein gamma-12 subunit precursor 1 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 TTTTGCTGGACATCTTCAATT 0.343 NA 22 194 0 0 0.002299 0 0 LRRC7 57554 broad.mit.edu 37 1 70291429 70291429 + Splice_Site SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:70291429A>T uc001dep.2 + 3 338 c.308_splice c.e3-2 p.G103_splice LRRC7_uc001deo.1_Splice_Site_p.G141_splice|LRRC7_uc009wbg.2_Splice_Site NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 TTCACATTTTAGGTGTACAAG 0.269 NA 3 41 0 0 0.004672 0 0 ELTD1 64123 broad.mit.edu 37 1 79404923 79404923 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:79404923G>T uc001diq.3 - 4 502 c.346C>A c.(346-348)CAT>AAT p.H116N NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 116 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTATCTAAATGGCAGTTTGCA 0.249 NA 14 35 2.61681e-11 3.35568e-11 0.00245 1 0 COL24A1 255631 broad.mit.edu 37 1 86200648 86200648 + Splice_Site SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:86200648C>A uc001dlj.2 - 59 4825 c.4783_splice c.e59-1 p.L1595_splice COL24A1_uc001dli.2_Splice_Site_p.L710_splice|COL24A1_uc010osd.1_Splice_Site_p.L895_splice|COL24A1_uc001dlk.2_Splice_Site|COL24A1_uc010ose.1_Splice_Site|COL24A1_uc010osf.1_Splice_Site NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CAAACTCCAACTAATGTCATA 0.418 NA 13 23 0.00136819 0.0014711 0.001368 1 0 VCAM1 7412 broad.mit.edu 37 1 101198042 101198042 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:101198042A>T uc001dti.2 + 7 1714 c.1594A>T c.(1594-1596)ATG>TTG p.M532L VCAM1_uc001dtj.2_Missense_Mutation_p.M440L|VCAM1_uc010ouj.1_Missense_Mutation_p.M470L NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 532 Ig-like C2-type 6.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) TTCTGTGAATATGACATGCTT 0.537 NA 17 67 0 0 0.006122 0 0 S1PR1 1901 broad.mit.edu 37 1 101704852 101704852 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:101704852G>T uc001dud.2 + 2 826 c.312G>T c.(310-312)TTG>TTT p.L104F S1PR1_uc009weg.2_Missense_Mutation_p.L104F NM_001400 NP_001391 P21453 S1PR1_HUMAN sphingosine-1-phosphate receptor 1 104 Helical; Name=2; (By similarity). cell adhesion integral to membrane lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1) 3 ACCTGCTCTTGTCTGGGGCCA 0.547 NA OREG0013620 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 61 5.45024e-15 7.47266e-15 0.00333 1 0 GNAT2 2780 broad.mit.edu 37 1 110146652 110146652 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:110146652G>T uc001dya.2 - 7 1008 c.795C>A c.(793-795)GTC>GTA p.V265V NM_005272 NP_005263 P19087 GNAT2_HUMAN guanine nucleotide binding protein, alpha 265 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity 0 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227) TGAGAAAGAGGACAATGGAAG 0.403 NA 11 58 2.27111e-07 2.68348e-07 0.001368 1 0 RBM15 64783 broad.mit.edu 37 1 110882839 110882839 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:110882839G>A uc001dzl.1 + 1 895 c.812G>A c.(811-813)AGT>AAT p.S271N RBM15_uc001dzm.1_Missense_Mutation_p.S271N|uc001dzj.2_5'Flank NM_022768 NP_073605 Q96T37 RBM15_HUMAN RNA binding motif protein 15 271 interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) CCATCAGCCAGTGTGGTCGGG 0.597 NA T MKL1 acute megakaryocytic leukemia 11 126 0 0 0.008291 0 0 RSBN1 54665 broad.mit.edu 37 1 114310857 114310857 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:114310857G>C uc001edq.2 - 5 1849 c.1813C>G c.(1813-1815)CAA>GAA p.Q605E RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 605 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCACCAAATTGTACAGCTTTC 0.403 NA 6 75 0 0 0.001168 0 0 TBX15 6913 broad.mit.edu 37 1 119427738 119427739 + Missense_Mutation DNP GG GG TT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:119427738_119427739GG>TT uc001ehl.1 - 8 1422_1423 c.1107_1108CC>AA c.(1105-1110)TCCCAG>TCAAAG p.Q370K TBX15_uc009whj.1_Missense_Mutation_p.Q194K NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 476 nucleus DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1) 2 all_neural(166;0.117) all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237) Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141) TACTGAAACTGGGAAGTGGGAA 0.569 NA 22 33 0 0 0.004672 0 0 SEC22B 9554 broad.mit.edu 37 1 145109526 145109526 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:145109526A>G uc001eml.1 + 5 328 c.188A>G c.(187-189)TAC>TGC p.Y63C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron NM_004892 NP_004883 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B 63 Longin.|Cytoplasmic (Potential). ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding 0 CTCACCAGCTACATTATTGAG 0.378 NA 9 400 0 0 0.004482 0 0 NBPF10 100132406 broad.mit.edu 37 1 145293563 145293563 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:145293563A>G uc001end.3 + 1 193 c.158A>G c.(157-159)AAC>AGC p.N53S NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.N53S|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.N53S NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 53 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) TTCCTGGCCAACCGACAGAAG 0.448 NA 28 533 0 0 0.00874 0 0 HFE2 148738 broad.mit.edu 37 1 145416654 145416654 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:145416654T>A uc001eni.2 + 4 1324 c.999T>A c.(997-999)AAT>AAA p.N333K NBPF10_uc001emp.3_Intron|HFE2_uc001enj.2_Missense_Mutation_p.N107K|HFE2_uc001enk.2_Missense_Mutation_p.N220K|HFE2_uc001enl.2_Missense_Mutation_p.N107K NM_213653 NP_998818 Q6ZVN8 RGMC_HUMAN hemojuvelin isoform a precursor 333 axon guidance anchored to membrane ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CAGAGCGCAATCGTCGGGGAG 0.532 NA 33 42 0 0 0.004289 0 0 GJA8 2703 broad.mit.edu 37 1 147381031 147381031 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:147381031C>G uc001epu.1 + 2 1012 c.949C>G c.(949-951)CAA>GAA p.Q317E NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 317 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CCGGGGCTACCAAGAGACACT 0.627 Melanoma(76;1255 1795 8195 52096) NA 6 34 0 0 0.001168 0 0 FCGR1A 2209 broad.mit.edu 37 1 149761697 149761697 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:149761697T>G uc001esp.3 + 5 697 c.647T>G c.(646-648)TTG>TGG p.L216W HIST2H2BF_uc010pbj.1_Intron|FCGR1A_uc009wlg.2_Intron NM_000566 NP_000557 P12314 FCGR1_HUMAN Fc fragment of IgG, high affinity Ia, receptor 216 Extracellular (Potential).|Ig-like C2-type 3. interferon-gamma-mediated signaling pathway|phagocytosis, engulfment integral to membrane|plasma membrane IgG binding|receptor activity|receptor signaling protein activity ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GAAACAAAGTTGCTCTTGCAG 0.498 NA 8 54 0 0 0.000978 0 0 SEMA6C 10500 broad.mit.edu 37 1 151115074 151115074 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:151115074C>G uc001ewu.2 - 3 324 c.24G>C c.(22-24)ATG>ATC p.M8I SEMA6C_uc001ewv.2_Missense_Mutation_p.M8I|SEMA6C_uc001eww.2_Missense_Mutation_p.M8I|SEMA6C_uc010pcq.1_Missense_Mutation_p.M8I|SEMA6C_uc009wml.1_Intron NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 8 integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCAGCAAGGGCATGAAGTGGG 0.637 NA 26 29 0 0 0.00333 0 0 RFX5 5993 broad.mit.edu 37 1 151314767 151314767 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:151314767C>T uc001exv.1 - 11 1960 c.1746G>A c.(1744-1746)AAG>AAA p.K582K RFX5_uc001exw.1_Silent_p.K582K|RFX5_uc009wmr.1_Silent_p.K582K|RFX5_uc010pcx.1_Silent_p.K542K NM_001025603 NP_001020774 P48382 RFX5_HUMAN regulatory factor X, 5 582 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CTACCTCTCCCTTTGCCAAAG 0.463 NA 31 177 0 0 0.002096 0 0 HRNR 388697 broad.mit.edu 37 1 152191355 152191355 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152191355G>A uc001ezt.1 - 3 2826 c.2750C>T c.(2749-2751)TCC>TTC p.S917F NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 917 10. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GCCACTGCTGGAAGACCGACC 0.627 NA 16 421 0 0 0.006122 0 0 FLG 2312 broad.mit.edu 37 1 152280798 152280798 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152280798A>T uc001ezu.1 - 3 6600 c.6564T>A c.(6562-6564)AGT>AGA p.S2188R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2188 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCTGCTTGCACTTCTGGATC 0.532 NA Ichthyosis 111 620 0 0 0.00361 0 0 FLG2 388698 broad.mit.edu 37 1 152323313 152323313 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152323313G>T uc001ezw.3 - 3 7022 c.6949C>A c.(6949-6951)CAG>AAG p.Q2317K uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2317 calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAACCTGTCTGTGTGGATTGT 0.463 NA 61 342 7.50695e-29 1.15655e-28 0.00361 1 0 FLG2 388698 broad.mit.edu 37 1 152327330 152327330 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152327330C>G uc001ezw.3 - 3 3005 c.2932G>C c.(2932-2934)GAG>CAG p.E978Q uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 978 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGCCTGACTCATGTTGTCCA 0.493 NA 25 644 0 0 0.003954 0 0 LCE3B 353143 broad.mit.edu 37 1 152586301 152586301 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152586301G>T uc010pds.1 + 1 15 c.15G>T c.(13-15)CAG>CAT p.Q5H NM_178433 NP_848520 Q5TA77 LCE3B_HUMAN late cornified envelope 3B 5 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367) CCTGCCAGCAGAACCAGCAGC 0.557 NA 29 22 1.08312e-15 1.50395e-15 0.009535 1 0 KPRP 448834 broad.mit.edu 37 1 152732910 152732911 + Nonsense_Mutation DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152732910_152732911CC>AA uc001fal.1 + 2 904_905 c.846_847CC>AA c.(844-849)TACCTG>TAAATG p.282_283YL>*M NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 282_283 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCAGCAGCTACCTGCCACTAAG 0.599 NA 47 63 0 0 0.004672 0 0 IVL 3713 broad.mit.edu 37 1 152883610 152883610 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:152883610A>T uc001fau.2 + 2 1383 c.1337A>T c.(1336-1338)CAG>CTG p.Q446L NM_005547 NP_005538 P07476 INVO_HUMAN involucrin 446 39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].|30. isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(3) 3 Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGGAGCAGCAGCAGGGGCAG 0.493 NA 6 6 0 0 0.001168 0 0 NES 10763 broad.mit.edu 37 1 156640299 156640299 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:156640299C>A uc001fpq.2 - 4 3814 c.3681G>T c.(3679-3681)CCG>CCT p.P1227P NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1227 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTCCAGGATCGGGGTGTACG 0.627 NA 85 94 2.84431e-33 4.45285e-33 0.00361 1 0 OR6K2 81448 broad.mit.edu 37 1 158669516 158669516 + Silent SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:158669516A>T uc001fsu.1 - 1 927 c.927T>A c.(925-927)GCT>GCA p.A309A NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) AAAATATCTTAGCTTGACCTA 0.388 NA 7 51 0 0 0.001984 0 0 PYHIN1 149628 broad.mit.edu 37 1 158908969 158908969 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:158908969A>G uc001ftb.2 + 4 756 c.511A>G c.(511-513)ACA>GCA p.T171A PYHIN1_uc001fta.3_Missense_Mutation_p.T171A|PYHIN1_uc001ftc.2_Missense_Mutation_p.T162A|PYHIN1_uc001ftd.2_Missense_Mutation_p.T171A|PYHIN1_uc001fte.2_Missense_Mutation_p.T162A NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 171 cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) CAGCACGTCCACAGCCATGGG 0.517 NA 48 68 0 0 0.00361 0 0 PYHIN1 149628 broad.mit.edu 37 1 158911812 158911812 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:158911812A>T uc001ftb.2 + 5 870 c.625A>T c.(625-627)ATT>TTT p.I209F PYHIN1_uc001ftc.2_Missense_Mutation_p.I200F|PYHIN1_uc001ftd.2_Missense_Mutation_p.I209F|PYHIN1_uc001fte.2_Missense_Mutation_p.I200F NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 209 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) CAGTAAAAATATTTTCCGAGA 0.363 NA 24 22 0 0 0.00278 0 0 ATP1A4 480 broad.mit.edu 37 1 160134024 160134024 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:160134024C>T uc001fve.3 + 7 1336 c.857C>T c.(856-858)GCG>GTG p.A286V ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_5'Flank NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 286 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAGGCCTGGCGGTTGGCCAG 0.557 NA 25 140 0 0 0.00333 0 0 SLAMF1 6504 broad.mit.edu 37 1 160616716 160616716 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:160616716A>T uc001fwl.3 - 1 366 c.20T>A c.(19-21)CTC>CAC p.L7H SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.L7H NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 7 interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) GGTCAAGGAGAGGAGCCCCTT 0.567 NA 4 39 0 0 0.000602 0 0 RXRG 6258 broad.mit.edu 37 1 165380320 165380321 + Nonsense_Mutation DNP GG GG AT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:165380320_165380321GG>AT uc001gda.2 - 5 948_949 c.648_649CC>AT c.(646-651)AGCCGA>AGATGA p.216_217SR>R* NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 216_217 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GCTCGCTCTCGGCTCCTCTGTC 0.446 NA 35 42 0 0 0.004672 0 0 FAM78B 149297 broad.mit.edu 37 1 166039591 166039591 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:166039591G>T uc001gdr.2 - 3 1263 c.673C>A c.(673-675)CGG>AGG p.R225R FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_RNA NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 225 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) GGTTCCATCCGGCTCAGGATC 0.622 NA 20 75 8.00594e-06 9.17369e-06 0.007413 1 0 FAM78B 149297 broad.mit.edu 37 1 166039623 166039623 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:166039623C>T uc001gdr.2 - 3 1231 c.641G>A c.(640-642)AGG>AAG p.R214K FAM78B_uc010plc.1_RNA|FAM78B_uc001gdq.2_5'Flank NM_001017961 NP_001017961 Q5VT40 FA78B_HUMAN hypothetical protein LOC149297 214 central_nervous_system(1)|skin(1) 2 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CTGCTGAGTCCTGCCCACCAG 0.587 NA 18 75 0 0 0.00499 0 0 XCL2 6846 broad.mit.edu 37 1 168510285 168510285 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:168510285T>G uc001gfn.3 - 3 283 c.250A>C c.(250-252)ATG>CTG p.M84L NM_003175 NP_003166 Q9UBD3 XCL2_HUMAN chemokine (C motif) ligand 2 precursor 84 blood circulation|chemotaxis|immune response|signal transduction extracellular space chemokine activity ovary(1) 1 all_hematologic(923;0.215) TTCCTGTCCATGCTCCTGACC 0.483 NA 6 63 0 0 0.001984 0 0 KLHL20 27252 broad.mit.edu 37 1 173726252 173726252 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:173726252G>A uc001gjc.2 + 7 1284 c.1105G>A c.(1105-1107)GCA>ACA p.A369T KLHL20_uc010pmr.1_Missense_Mutation_p.A180T|KLHL20_uc009wwf.2_Missense_Mutation_p.A351T NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 369 Kelch 2. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 TCTGTTATATGCAGTAGGAGG 0.393 GBM(159;862 2695 6559 23041) NA 28 92 0 0 0.007291 0 0 TNN 63923 broad.mit.edu 37 1 175106085 175106085 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:175106085C>A uc001gkl.1 + 17 3669 c.3556C>A c.(3556-3558)CGG>AGG p.R1186R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 1186 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGCAAGGAGCGGTATAAGCT 0.473 NA 16 59 8.60227e-14 1.15759e-13 0.004007 1 0 CACNA1E 777 broad.mit.edu 37 1 181745277 181745277 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:181745277A>T uc001gow.2 + 38 5345 c.5180A>T c.(5179-5181)GAG>GTG p.E1727V CACNA1E_uc009wxs.2_Missense_Mutation_p.E1615V|CACNA1E_uc001gox.1_Missense_Mutation_p.E953V|CACNA1E_uc009wxt.2_Missense_Mutation_p.E953V NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1727 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GACAACTTTGAGTACCTGACT 0.567 NA 60 180 0 0 0.00361 0 0 ZNF648 127665 broad.mit.edu 37 1 182025654 182025654 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:182025654G>T uc001goz.2 - 2 1700 c.1492C>A c.(1492-1494)CAC>AAC p.H498N NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 498 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TCCCCGGAGTGGATCTGTTGG 0.637 NSCLC(71;908 1374 5429 20458 35642) NA 3 20 6.4e-05 7.10182e-05 0.004672 1 0 ZNF648 127665 broad.mit.edu 37 1 182026579 182026579 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:182026579C>A uc001goz.2 - 2 775 c.567G>T c.(565-567)CTG>CTT p.L189L NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGAAACACAACAGAGAAGAGT 0.612 NSCLC(71;908 1374 5429 20458 35642) NA 4 28 0.00909568 0.00956747 0.009096 1 0 FAM129A 116496 broad.mit.edu 37 1 184764797 184764797 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:184764797C>A uc001gra.2 - 14 2295 c.2101G>T c.(2101-2103)GAA>TAA p.E701* FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 701 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 GTGATGGGTTCTGGCTCTTCC 0.562 NA 18 58 1.67942e-08 2.04818e-08 0.006122 1 0 FAM5C 339479 broad.mit.edu 37 1 190067188 190067188 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:190067188G>T uc001gse.1 - 8 2493 c.2261C>A c.(2260-2262)CCA>CAA p.P754Q FAM5C_uc010pot.1_Missense_Mutation_p.P652Q NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 754 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CATTGTGTTTGGCAATTTGGC 0.408 NA 37 99 3.62531e-18 5.18241e-18 0.004289 1 0 RGS1 5996 broad.mit.edu 37 1 192547357 192547357 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:192547357C>A uc001gsi.1 + 4 352 c.286C>A c.(286-288)CAA>AAA p.Q96K RGS1_uc010pou.1_Missense_Mutation_p.Q96K NM_002922 NP_002913 Q08116 RGS1_HUMAN regulator of G-protein signalling 1 96 RGS. immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction cytoplasm|plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity 0 Breast(1374;0.188) TTTAGCTGGTCAAAATGTCTT 0.333 NA 28 143 3.90053e-15 5.37324e-15 0.002445 1 0 IPO9 55705 broad.mit.edu 37 1 201843470 201843470 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:201843470C>G uc001gwz.2 + 21 2853 c.2803C>G c.(2803-2805)CGC>GGC p.R935G NM_018085 NP_060555 Q96P70 IPO9_HUMAN importin 9 935 R -> P (in Ref. 4; BAB55181). protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity ovary(2) 2 TAATGCCGCTCGCCAGGCCAC 0.507 NA 7 97 0 0 0.00308 0 0 LGR6 59352 broad.mit.edu 37 1 202245436 202245436 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:202245436G>T uc001gxu.2 + 5 431 c.431G>T c.(430-432)CGC>CTC p.R144L LGR6_uc001gxv.2_Missense_Mutation_p.R92L|LGR6_uc009xab.2_RNA|LGR6_uc001gxw.2_Intron|LGR6_uc009xac.1_RNA NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN leucine-rich repeat-containing G protein-coupled 144 LRR 3.|Extracellular (Potential). integral to membrane|plasma membrane protein-hormone receptor activity large_intestine(4)|ovary(3)|skin(2)|pancreas(1) 10 TCCACCAGGCGCCTAGATGCC 0.617 NA 18 79 1.67942e-08 2.04818e-08 0.006122 1 0 UBE2T 29089 broad.mit.edu 37 1 202301011 202301011 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:202301011C>A uc001gxx.3 - 7 682 c.546G>T c.(544-546)AAG>AAT p.K182N NM_014176 NP_054895 Q9NPD8 UBE2T_HUMAN ubiquitin-conjugating enzyme E2T 182 DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination nucleoplasm ATP binding|ubiquitin-protein ligase activity 0 GCTGACTGGCCTTCCTTTTCT 0.438 NA 44 155 4.18559e-23 6.27119e-23 0.00361 1 0 KLHL12 59349 broad.mit.edu 37 1 202887329 202887329 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:202887329C>A uc001gyo.1 - 4 737 c.537G>T c.(535-537)GTG>GTT p.V179V KLHL12_uc001gyn.1_Silent_p.V29V|KLHL12_uc010pqc.1_Silent_p.V217V|KLHL12_uc009xah.1_Silent_p.V179V NM_021633 NP_067646 Q53G59 KLH12_HUMAN kelch-like 12 179 Wnt receptor signaling pathway protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.166) TTAGCTTTTCCACCTCTCCTT 0.413 NA 24 182 2.48779e-11 3.19493e-11 0.005443 1 0 SNRPE 6635 broad.mit.edu 37 1 203830805 203830805 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:203830805G>T uc001hai.2 + 1 66 c.18G>T c.(16-18)CAG>CAT p.Q6H SNRPE_uc010pqn.1_RNA NM_003094 NP_003085 P62304 RUXE_HUMAN small nuclear ribonucleoprotein polypeptide E 6 histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP protein binding|RNA binding 0 all_cancers(21;0.103) BRCA - Breast invasive adenocarcinoma(75;0.109) ACCGTGGCCAGGGTCAGAAAG 0.562 Ovarian(83;324 1318 17952 32395 39614) NA 4 66 5.9392e-07 6.95165e-07 0.001168 1 0 SLC45A3 85414 broad.mit.edu 37 1 205628458 205628458 + Silent SNP G G A rs141291475 byFrequency TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:205628458G>A uc001hda.1 - 5 1905 c.1566C>T c.(1564-1566)GCC>GCT p.A522A SLC45A3_uc010prn.1_Intron|SLC45A3_uc010pro.1_Intron|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 522 Helical; Name=11; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) ACACCATATAGGCAGTGACAG 0.547 NA T ETV1|ETV5|ELK4|ERG prostate OREG0014161 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 68 0 0 0.000978 0 0 TRAF3IP3 80342 broad.mit.edu 37 1 209951496 209951496 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:209951496G>A uc001hho.2 + 13 1520 c.1230G>A c.(1228-1230)GTG>GTA p.V410V TRAF3IP3_uc001hhl.2_Silent_p.V390V|TRAF3IP3_uc001hhm.1_3'UTR|TRAF3IP3_uc001hhn.2_Silent_p.V390V|TRAF3IP3_uc009xcr.2_Silent_p.V410V NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 410 Cytoplasmic (Potential).|Potential. integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) TCACCCTGGTGACCAGAGTAC 0.468 NA 7 24 0 0 0.001984 0 0 PTPN14 5784 broad.mit.edu 37 1 214557623 214557623 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:214557623T>A uc001hkk.1 - 13 1846 c.1575A>T c.(1573-1575)CCA>CCT p.P525P PTPN14_uc010pty.1_Silent_p.P426P NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 525 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CCGGCTTGCTTGGTACCACAT 0.582 Colon(92;557 1424 24372 34121 40073) NA 54 185 0 0 0.00361 0 0 KCTD3 51133 broad.mit.edu 37 1 215793486 215793486 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:215793486G>C uc001hks.2 + 18 2268 c.1974G>C c.(1972-1974)AGG>AGC p.R658S KCTD3_uc001hkt.2_Missense_Mutation_p.R656S|KCTD3_uc010pub.1_Missense_Mutation_p.R556S|KCTD3_uc009xdn.2_Missense_Mutation_p.R382S NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 658 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) TATTAGCAAGGGCAAGAAGGA 0.433 NA 19 71 0 0 0.007413 0 0 USH2A 7399 broad.mit.edu 37 1 216497008 216497008 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:216497008G>T uc001hku.1 - 8 1745 c.1358C>A c.(1357-1359)ACA>AAA p.T453K USH2A_uc001hkv.2_Missense_Mutation_p.T453K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 453 Laminin N-terminal.|Extracellular (Potential). T -> I (found in a renal cell carcinoma sample; somatic mutation). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding p.T453I(1) ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATGCTAAATGTGACATTGCC 0.363 NA HNSCC(13;0.011) 25 94 1.55469e-16 2.1866e-16 0.00333 1 0 MARK1 4139 broad.mit.edu 37 1 220805550 220805550 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:220805550G>A uc001hmn.3 + 11 1614 c.1017G>A c.(1015-1017)ATG>ATA p.M339I MARK1_uc009xdw.2_Missense_Mutation_p.M339I|MARK1_uc010pun.1_Missense_Mutation_p.M339I|MARK1_uc001hmm.3_Missense_Mutation_p.M317I NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 339 UBA. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) TAGACATTATGGTCACCATGG 0.308 NA 18 311 0 0 0.007413 0 0 HHIPL2 79802 broad.mit.edu 37 1 222717255 222717255 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:222717255C>A uc001hnh.1 - 2 656 c.598G>T c.(598-600)GAT>TAT p.D200Y NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 200 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) CCCTGAGGATCTTGGGCCACC 0.612 NA 13 65 7.03913e-09 8.65743e-09 0.001368 1 0 NUP133 55746 broad.mit.edu 37 1 229594020 229594020 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:229594020C>A uc001htn.2 - 21 2960 c.2868G>T c.(2866-2868)TTG>TTT p.L956F uc001hto.1_5'Flank NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 956 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CCATATTTGCCAAACCCAGAA 0.388 NA 21 35 0.000295444 0.000322841 0.002299 1 0 ABCB10 23456 broad.mit.edu 37 1 229661863 229661864 + Splice_Site DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:229661863_229661864CC>AA uc001htp.3 - 10 1769 c.1726_splice c.e10-1 p.E576_splice NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 integral to mitochondrial membrane|mitochondrial inner membrane ATP binding|oligopeptide-transporting ATPase activity breast(2) 2 Breast(184;0.143)|Ovarian(103;0.249) Prostate(94;0.167) AAAATGGGTTCCTACAAATTGG 0.361 NA 18 79 0 0 0.004672 0 0 AGT 183 broad.mit.edu 37 1 230846486 230846486 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:230846486G>A uc001hty.3 - 2 619 c.111C>T c.(109-111)TAC>TAT p.Y37Y AGT_uc009xfe.2_Silent_p.Y37Y|AGT_uc009xff.2_Silent_p.Y37Y NM_000029 NP_000020 P01019 ANGT_HUMAN angiotensinogen preproprotein 37 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding 0 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) AGGGGTGTATGTACACCCGGT 0.622 NA 35 57 0 0 0.002445 0 0 LYST 1130 broad.mit.edu 37 1 235969542 235969542 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:235969542G>C uc001hxj.2 - 6 3069 c.2894C>G c.(2893-2895)TCT>TGT p.S965C LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.S965C NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 965 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) ACGACACATAGACCAAATGTC 0.418 NA Chediak-Higashsyndrome 67 106 0 0 0.00361 0 0 ACTN2 88 broad.mit.edu 37 1 236906299 236906299 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:236906299A>T uc001hyf.2 + 11 1415 c.1211A>T c.(1210-1212)GAG>GTG p.E404V ACTN2_uc001hyg.2_Missense_Mutation_p.E196V|ACTN2_uc009xgi.1_Missense_Mutation_p.E404V|ACTN2_uc010pxu.1_Missense_Mutation_p.E93V|ACTN2_uc001hyh.2_Missense_Mutation_p.E92V NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 404 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CACCTGGCTGAGAAGTTCAGG 0.527 NA 14 63 0 0 0.001855 0 0 ACTN2 88 broad.mit.edu 37 1 236906314 236906314 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:236906314A>G uc001hyf.2 + 11 1430 c.1226A>G c.(1225-1227)AAG>AGG p.K409R ACTN2_uc001hyg.2_Missense_Mutation_p.K201R|ACTN2_uc009xgi.1_Missense_Mutation_p.K409R|ACTN2_uc010pxu.1_Missense_Mutation_p.K98R|ACTN2_uc001hyh.2_Missense_Mutation_p.K97R NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 409 Spectrin 2. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) TTCAGGCAGAAGGCCTCAACG 0.522 NA 19 63 0 0 0.010504 0 0 ACTN2 88 broad.mit.edu 37 1 236912547 236912547 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:236912547A>G uc001hyf.2 + 14 1843 c.1639A>G c.(1639-1641)AGC>GGC p.S547G ACTN2_uc001hyg.2_Missense_Mutation_p.S339G|ACTN2_uc009xgi.1_Missense_Mutation_p.S547G|ACTN2_uc010pxu.1_Missense_Mutation_p.S236G|ACTN2_uc001hyh.2_Missense_Mutation_p.S235G NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 547 Spectrin 3. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CATTGTCCACAGCATTGAGGA 0.443 NA 28 78 0 0 0.004656 0 0 NLRP3 114548 broad.mit.edu 37 1 247582216 247582216 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247582216C>A uc001icr.2 + 3 258 c.120C>A c.(118-120)CCC>CCA p.P40P NLRP3_uc001ics.2_Silent_p.P40P|NLRP3_uc001icu.2_Silent_p.P40P|NLRP3_uc001icw.2_Silent_p.P40P|NLRP3_uc001icv.2_Silent_p.P40P|NLRP3_uc010pyw.1_Silent_p.P38P|NLRP3_uc001ict.1_Silent_p.P38P NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 40 DAPIN. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GCTGCATCCCCCTCCCGAGGG 0.567 NA 13 39 0.00185496 0.00199202 0.001855 1 0 NLRP3 114548 broad.mit.edu 37 1 247587692 247587692 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247587692G>T uc001icr.2 + 5 1085 c.947G>T c.(946-948)GGA>GTA p.G316V NLRP3_uc001ics.2_Missense_Mutation_p.G316V|NLRP3_uc001icu.2_Missense_Mutation_p.G316V|NLRP3_uc001icw.2_Missense_Mutation_p.G316V|NLRP3_uc001icv.2_Missense_Mutation_p.G316V|NLRP3_uc010pyw.1_Missense_Mutation_p.G314V|NLRP3_uc001ict.1_Missense_Mutation_p.G314V NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 316 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) GAGCACATAGGACCGCTCTGC 0.567 NA 18 79 2.94398e-08 3.57542e-08 0.007413 1 0 OR2B11 127623 broad.mit.edu 37 1 247614514 247614514 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247614514T>A uc010pyx.1 - 1 771 c.771A>T c.(769-771)CTA>CTT p.L257L NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AAATCGCAGGTAGGTAGAAGA 0.517 NA 29 148 0 0 0.00632 0 0 OR2B11 127623 broad.mit.edu 37 1 247614915 247614915 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247614915G>C uc010pyx.1 - 1 370 c.370C>G c.(370-372)CTG>GTG p.L124V NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 124 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TAGCGGTCCAGGGCCATGGCG 0.607 NA 17 70 0 0 0.004007 0 0 OR2G2 81470 broad.mit.edu 37 1 247751975 247751975 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247751975A>T uc010pyy.1 + 1 314 c.314A>T c.(313-315)TAC>TTC p.Y105F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 105 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GTTCACCTTTACAACTCCCAT 0.542 NA 33 150 0 0 0.003271 0 0 OR2G3 81469 broad.mit.edu 37 1 247769494 247769494 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247769494A>T uc010pyz.1 + 1 607 c.607A>T c.(607-609)AGT>TGT p.S203C NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TTTTGTTGTTAGTGTTCTGTT 0.448 NA 28 99 0 0 0.00632 0 0 OR13G1 441933 broad.mit.edu 37 1 247835474 247835474 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:247835474C>G uc001idi.1 - 1 870 c.870G>C c.(868-870)CAG>CAC p.Q290H NM_001005487 NP_001005487 Q8NGZ3 O13G1_HUMAN olfactory receptor, family 13, subfamily G, 290 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTCCCTATTCTGGAAGCTGT 0.448 NA 30 114 0 0 0.008361 0 0 OR11L1 391189 broad.mit.edu 37 1 248004727 248004727 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:248004727G>A uc001idn.1 - 1 472 c.472C>T c.(472-474)CTG>TTG p.L158L NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 158 Helical; Name=4; (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) AGGGAAGGCAGAAAGCCTGTG 0.582 NA 4 113 0 0 0.009096 0 0 OR2L3 391192 broad.mit.edu 37 1 248224682 248224682 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:248224682G>T uc001idx.1 + 1 699 c.699G>T c.(697-699)AGG>AGT p.R233S OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAGAAGGGAGGAAGAAAGCCT 0.478 NA 55 236 6.30371e-39 9.95803e-39 0.00361 1 0 SFMBT2 57713 broad.mit.edu 37 10 7244452 7244452 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:7244452G>C uc009xio.1 - 13 1568 c.1477C>G c.(1477-1479)CCA>GCA p.P493A SFMBT2_uc001ijn.1_Missense_Mutation_p.P493A|SFMBT2_uc010qay.1_Intron NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 493 regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 TGTTTCTCTGGTTGCACGACT 0.398 NA 16 38 0 0 0.006122 0 0 ITIH5 80760 broad.mit.edu 37 10 7683889 7683889 + Splice_Site SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:7683889C>T uc001ijq.2 - 3 378 c.299_splice c.e3+1 p.M100_splice ITIH5_uc001ijr.1_Splice_Site_p.M100_splice NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 GTGTCACCTACATAGTGAAGT 0.488 NA 10 116 0 0 0.001368 0 0 CUBN 8029 broad.mit.edu 37 10 16980992 16980992 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:16980992T>C uc001ioo.2 - 38 5755 c.5703A>G c.(5701-5703)GAA>GAG p.E1901E NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1901 CUB 13. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGTTTTGTATTTCTTCTATGT 0.358 NA 30 62 0 0 0.003271 0 0 SLC39A12 221074 broad.mit.edu 37 10 18270268 18270268 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:18270268G>T uc001ipo.2 + 6 1225 c.952G>T c.(952-954)GAG>TAG p.E318* SLC39A12_uc001ipn.2_Nonsense_Mutation_p.E318*|SLC39A12_uc001ipp.2_Nonsense_Mutation_p.E318*|SLC39A12_uc010qck.1_Nonsense_Mutation_p.E184* NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 318 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 GCAGCTGGTGGAGATATTTCT 0.453 NA 15 66 2.31682e-05 2.60344e-05 0.003163 1 0 GPR158 57512 broad.mit.edu 37 10 25886724 25886724 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:25886724C>A uc001isj.2 + 11 2229 c.2169C>A c.(2167-2169)GCC>GCA p.A723A GPR158_uc001isk.2_Silent_p.A98A NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 723 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 AACTCTATGCCCAACTGGAAA 0.418 NA 38 84 2.05212e-20 3.00243e-20 0.005524 1 0 GAD2 2572 broad.mit.edu 37 10 26508011 26508011 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:26508011C>A uc001isp.2 + 4 829 c.326C>A c.(325-327)GCG>GAG p.A109E GAD2_uc009xkr.2_Missense_Mutation_p.A109E|GAD2_uc001isq.2_Missense_Mutation_p.A109E NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 109 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CCCACTTTGGCGTTTCTGCAA 0.363 NA 31 45 1.74807e-11 2.25825e-11 0.002096 1 0 GAD2 2572 broad.mit.edu 37 10 26575391 26575391 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:26575391G>C uc001isp.2 + 13 1857 c.1354G>C c.(1354-1356)GTT>CTT p.V452L GAD2_uc001isq.2_Missense_Mutation_p.V452L NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 452 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) CCACGTTGATGTTTTTAAACT 0.438 NA 29 46 0 0 0.00632 0 0 ANKRD26 22852 broad.mit.edu 37 10 27306605 27306605 + Silent SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:27306605A>G uc001ith.2 - 30 4501 c.4329T>C c.(4327-4329)TGT>TGC p.C1443C ANKRD26_uc001itg.2_Silent_p.C1130C|ANKRD26_uc009xku.1_Silent_p.C1444C NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1443 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 GTAGTTTTTCACATTTCTTTT 0.348 NA 5 89 0 0 0.000602 0 0 ZNF33A 7581 broad.mit.edu 37 10 38345105 38345105 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:38345105A>G uc001izh.2 + 5 2228 c.2050A>G c.(2050-2052)AGA>GGA p.R684G ZNF33A_uc001izg.2_Missense_Mutation_p.R685G|ZNF33A_uc010qev.1_Missense_Mutation_p.R691G|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 684 C2H2-type 13. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TTTCCATGAGAGAAAGCACAC 0.398 NA 30 87 0 0 0.008361 0 0 HNRNPF 3185 broad.mit.edu 37 10 43882738 43882738 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:43882738G>T uc009xmh.1 - 3 1082 c.595C>A c.(595-597)CTG>ATG p.L199M HNRNPF_uc001jar.2_Missense_Mutation_p.L199M|HNRNPF_uc001jas.2_Missense_Mutation_p.L199M|HNRNPF_uc001jat.2_Missense_Mutation_p.L199M|HNRNPF_uc001jav.2_Missense_Mutation_p.L199M|HNRNPF_uc001jau.2_Missense_Mutation_p.L199M|uc010qfa.1_Missense_Mutation_p.Q140H NM_001098208 NP_001091678 P52597 HNRPF_HUMAN heterogeneous nuclear ribonucleoprotein F 199 regulation of RNA splicing catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding 0 ATGAACTTCAGAGGGGGATCT 0.562 NA 28 88 2.48779e-11 3.19493e-11 0.005443 1 0 RBP3 5949 broad.mit.edu 37 10 48389931 48389931 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:48389931G>T uc001jez.2 - 1 1061 c.947C>A c.(946-948)GCC>GAC p.A316D NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 316 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GATGGCCAGGGCTTTCTCCAG 0.687 NA 10 38 0.000978159 0.00105826 0.000978 1 0 OGDHL 55753 broad.mit.edu 37 10 50959877 50959877 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:50959877T>C uc001jie.2 - 6 887 c.745A>G c.(745-747)ATG>GTG p.M249V OGDHL_uc009xog.2_Missense_Mutation_p.M276V|OGDHL_uc010qgt.1_Missense_Mutation_p.M192V|OGDHL_uc010qgu.1_Missense_Mutation_p.M40V|OGDHL_uc009xoh.2_Missense_Mutation_p.M40V NM_018245 NP_060715 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like isoform a 249 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding pancreas(1) 1 GCCAACCTCATGGAGCGCACT 0.627 NA 19 71 0 0 0.007413 0 0 PARG 8505 broad.mit.edu 37 10 51077590 51077590 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:51077590C>G uc001jif.2 - 10 2261 c.2000G>C c.(1999-2001)GGA>GCA p.G667A PARG_uc001jih.2_Missense_Mutation_p.G667A|PARG_uc001jig.2_Missense_Mutation_p.G253A|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Missense_Mutation_p.G558A|PARG_uc009xoj.2_Missense_Mutation_p.G218A|PARG_uc010qgx.1_Missense_Mutation_p.G585A NM_003631 NP_003622 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 667 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity ovary(2) 2 Epithelial(53;0.213) TGATGAACGTCCCTCAAACAA 0.318 NA 4 8 0 0 0.001168 0 0 PCDH15 65217 broad.mit.edu 37 10 55582281 55582281 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:55582281G>T uc001jju.1 - 33 5600 c.5205C>A c.(5203-5205)GCC>GCA p.A1735A 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_Silent_p.A1732A|PCDH15_uc010qhw.1_Silent_p.A1695A|PCDH15_uc010qhx.1_Silent_p.A1666A|PCDH15_uc010qhy.1_Silent_p.A1742A|PCDH15_uc010qhz.1_Silent_p.A1737A|PCDH15_uc010qia.1_Silent_p.A1715A|PCDH15_uc010qib.1_Silent_p.A1712A NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1735 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) TTGGTGGATGGGCAAAATTTT 0.249 NA HNSCC(58;0.16) 3 17 0.004672 0.00497434 0.004672 1 0 PCDH15 65217 broad.mit.edu 37 10 55944963 55944963 + Silent SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:55944963A>T uc001jju.1 - 12 1766 c.1371T>A c.(1369-1371)ACT>ACA p.T457T PCDH15_uc010qhq.1_Silent_p.T462T|PCDH15_uc010qhr.1_Silent_p.T457T|PCDH15_uc010qhs.1_Silent_p.T469T|PCDH15_uc010qht.1_Silent_p.T464T|PCDH15_uc010qhu.1_Silent_p.T457T|PCDH15_uc001jjv.1_Silent_p.T435T|PCDH15_uc010qhv.1_Silent_p.T457T|PCDH15_uc010qhw.1_Silent_p.T420T|PCDH15_uc010qhx.1_Silent_p.T457T|PCDH15_uc010qhy.1_Silent_p.T462T|PCDH15_uc010qhz.1_Silent_p.T457T|PCDH15_uc010qia.1_Silent_p.T435T|PCDH15_uc010qib.1_Silent_p.T435T|PCDH15_uc001jjw.2_Silent_p.T457T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 457 Cadherin 4.|Extracellular (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) GAGTAATACCAGTCTGTGTGA 0.393 NA HNSCC(58;0.16) 27 50 0 0 0.002096 0 0 PCDH15 65217 broad.mit.edu 37 10 56106133 56106133 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:56106133C>A uc001jju.1 - 6 981 c.586G>T c.(586-588)GAT>TAT p.D196Y PCDH15_uc010qhq.1_Missense_Mutation_p.D201Y|PCDH15_uc010qhr.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhs.1_Missense_Mutation_p.D201Y|PCDH15_uc010qht.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhu.1_Missense_Mutation_p.D196Y|PCDH15_uc001jjv.1_Missense_Mutation_p.D174Y|PCDH15_uc010qhv.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhw.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhx.1_Missense_Mutation_p.D196Y|PCDH15_uc010qhy.1_Missense_Mutation_p.D201Y|PCDH15_uc010qhz.1_Missense_Mutation_p.D196Y|PCDH15_uc010qia.1_Missense_Mutation_p.D174Y|PCDH15_uc010qib.1_Missense_Mutation_p.D174Y|PCDH15_uc001jjw.2_Missense_Mutation_p.D196Y NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 196 Extracellular (Potential).|Cadherin 2. 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) ACCGGATCATCTGGATTATAC 0.308 NA HNSCC(58;0.16) 24 93 1.22574e-08 1.50541e-08 0.002299 1 0 BICC1 80114 broad.mit.edu 37 10 60548170 60548170 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:60548170G>A uc001jki.1 + 6 587 c.587G>A c.(586-588)CGA>CAA p.R196Q NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 196 KH 1. multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 GAATCTGCCCGAGTTAGAATT 0.303 NA 16 30 0 0 0.006122 0 0 PBLD 64081 broad.mit.edu 37 10 70056647 70056647 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:70056647T>A uc001jns.1 - 3 383 c.180A>T c.(178-180)GCA>GCT p.A60A PBLD_uc001jnr.1_Silent_p.A27A|PBLD_uc001jnt.1_Silent_p.A60A|PBLD_uc001jnu.1_Silent_p.A60A|PBLD_uc001jnv.1_Silent_p.A60A NM_022129 NP_071412 P30039 PBLD_HUMAN MAWD binding protein isoform a 60 biosynthetic process isomerase activity skin(2)|ovary(1) 3 ATTTACTTTGTGCAAAGTTGT 0.229 NA 16 75 0 0 0.003163 0 0 HK1 3098 broad.mit.edu 37 10 71103616 71103616 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:71103616G>T uc001jpl.3 + 2 198 c.97G>T c.(97-99)GAT>TAT p.D33Y HK1_uc009xqc.1_Silent_p.P96P|HK1_uc001jpg.3_Missense_Mutation_p.D21Y|HK1_uc001jph.3_Missense_Mutation_p.D37Y|HK1_uc001jpi.3_Missense_Mutation_p.D37Y|HK1_uc001jpj.3_Missense_Mutation_p.D68Y|HK1_uc001jpk.3_Missense_Mutation_p.D32Y|HK1_uc009xqd.2_5'UTR NM_000188 NP_000179 P19367 HXK1_HUMAN hexokinase 1 isoform HKI 33 Regulatory. glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane|nucleus ATP binding|glucokinase activity ovary(1) 1 GCGGCTCTCCGATGAAACTCT 0.522 NA 40 118 2.26627e-22 3.36087e-22 0.007835 1 0 CDH23 64072 broad.mit.edu 37 10 73455252 73455252 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:73455252G>T uc001jrx.3 + 21 2744 c.2367G>T c.(2365-2367)GAG>GAT p.E789D CDH23_uc001jry.2_Missense_Mutation_p.E405D|CDH23_uc001jrz.2_Missense_Mutation_p.E405D NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 789 Cadherin 8.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACCTGGTGGAGATGACCCCTC 0.597 NA 9 39 0.00829132 0.00878497 0.008291 1 0 SEC24C 9632 broad.mit.edu 37 10 75527670 75527670 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:75527670C>A uc001juw.2 + 16 2265 c.2086C>A c.(2086-2088)CTC>ATC p.L696I SEC24C_uc009xrj.1_Missense_Mutation_p.L554I|SEC24C_uc001jux.2_Missense_Mutation_p.L696I|SEC24C_uc010qko.1_Missense_Mutation_p.L577I|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 696 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) CTGTGTAGATCTCTTTCTCTT 0.517 NA 6 69 2.0095e-06 2.32398e-06 0.001984 1 0 NDST2 8509 broad.mit.edu 37 10 75563708 75563708 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:75563708C>A uc001jvk.2 - 10 2714 c.1910G>T c.(1909-1911)AGC>ATC p.S637I NDST2_uc010qks.1_Missense_Mutation_p.S263I|NDST2_uc010qkt.1_Missense_Mutation_p.S514I|NDST2_uc001jvl.1_Missense_Mutation_p.S44I|NDST2_uc009xro.2_Missense_Mutation_p.S263I|NDST2_uc010qku.1_Missense_Mutation_p.S512I NM_003635 NP_003626 P52849 NDST2_HUMAN heparan glucosaminyl 637 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity ovary(1) 1 Prostate(51;0.0112) CTCAAATGTGCTGGGGCTAGG 0.502 NA 32 97 2.08457e-15 2.88073e-15 0.002096 1 0 LRIT1 26103 broad.mit.edu 37 10 85993978 85993978 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:85993978C>A uc001kcz.1 - 3 768 c.746G>T c.(745-747)AGG>ATG p.R249M NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 249 LRRCT.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 CTGGCACTTCCTCAGTTCAAG 0.607 NA 16 60 1.3612e-06 1.57842e-06 0.003163 1 0 RNLS 55328 broad.mit.edu 37 10 90341368 90341368 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:90341368G>A uc001kfe.2 - 3 458 c.323C>T c.(322-324)CCT>CTT p.P108L RNLS_uc010qms.1_Intron|RNLS_uc001kfd.2_Missense_Mutation_p.P108L NM_001031709 NP_001026879 Q5VYX0 RNLS_HUMAN renalase isoform 1 108 extracellular region oxidoreductase activity ovary(1) 1 AATTCCTTGAGGTGCCACAAA 0.353 NA 10 40 0 0 0.008291 0 0 BTAF1 9044 broad.mit.edu 37 10 93717010 93717010 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:93717010G>T uc001khr.2 + 8 958 c.860G>T c.(859-861)TGT>TTT p.C287F BTAF1_uc009xua.1_RNA|BTAF1_uc001khs.1_5'UTR NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 287 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) GAAAGCTTTTGTGAAGAACTT 0.323 NA 14 55 1.05317e-09 1.32329e-09 0.00245 1 0 BTAF1 9044 broad.mit.edu 37 10 93784522 93784522 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:93784522G>T uc001khr.2 + 35 4971 c.4873G>T c.(4873-4875)GAC>TAC p.D1625Y NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1625 negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) GTTGCTGTTGGACTGCGGTTT 0.428 NA 17 56 6.49762e-13 8.66349e-13 0.006122 1 0 KIF11 3832 broad.mit.edu 37 10 94388606 94388606 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:94388606T>A uc001kic.2 + 11 1567 c.1259T>A c.(1258-1260)GTA>GAA p.V420E KIF11_uc010qnq.1_Intron NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 420 Potential. blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 GAGCAGATTGTAGAATTGATT 0.279 Colon(47;212 1003 2764 4062 8431) NA 6 27 0 0 0.001168 0 0 CYP2C19 1557 broad.mit.edu 37 10 96609673 96609673 + Splice_Site SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:96609673G>T uc010qnz.1 + 8 1150 c.1150_splice c.e8-1 p.G384_splice CYP2C19_uc010qny.1_Splice_Site_p.G362_splice NM_000769 NP_000760 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity ovary(4)|central_nervous_system(1)|skin(1) 6 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) CTTGTTTCTAGGGCACAACCA 0.408 NA 21 103 1.42536e-11 1.84957e-11 0.004656 1 0 C10orf12 26148 broad.mit.edu 37 10 98743640 98743640 + Silent SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:98743640A>G uc001kmv.2 + 1 2600 c.2493A>G c.(2491-2493)AAA>AAG p.K831K NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 831 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CAAGGAACAAATCAGATAAAC 0.433 NA 4 26 0 0 0.009096 0 0 DNMBP 23268 broad.mit.edu 37 10 101656083 101656083 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:101656083T>C uc001kqj.2 - 10 3084 c.2992A>G c.(2992-2994)ATC>GTC p.I998V DNMBP_uc010qpl.1_Intron|DNMBP_uc001kqg.2_Missense_Mutation_p.I286V|DNMBP_uc001kqh.2_Missense_Mutation_p.I630V NM_015221 NP_056036 Q6XZF7 DNMBP_HUMAN dynamin binding protein 998 intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity ovary(5)|skin(1) 6 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) GATTTCTTGATGATGGAGTGG 0.468 NA 7 40 0 0 0.00308 0 0 SORCS3 22986 broad.mit.edu 37 10 107005408 107005408 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:107005408G>T uc001kyi.1 + 21 3204 c.2977G>T c.(2977-2979)GAG>TAG p.E993* SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 993 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) GGACACAAAAGAGATTGCAGT 0.493 NSCLC(116;1497 1690 7108 13108 14106) NA 14 47 4.3838e-07 5.15185e-07 0.001855 1 0 SORCS1 114815 broad.mit.edu 37 10 108923735 108923735 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:108923735T>C uc001kym.2 - 1 558 c.550A>G c.(550-552)AAC>GAC p.N184D SORCS1_uc001kyl.2_Missense_Mutation_p.N184D|SORCS1_uc009xxs.2_Missense_Mutation_p.N184D|SORCS1_uc001kyn.1_Missense_Mutation_p.N184D|SORCS1_uc001kyo.2_Missense_Mutation_p.N184D NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 184 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) ACGCTGCTGTTGTGGCCAGAC 0.557 NA 10 27 0 0 0.000978 0 0 GPR26 2849 broad.mit.edu 37 10 125426441 125426441 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:125426441C>T uc001lhh.2 + 1 571 c.518C>T c.(517-519)ACT>ATT p.T173I NM_153442 NP_703143 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 173 Helical; Name=5; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) GCCGTCTTCACTGGCGCCTTC 0.667 NA 4 13 0 0 0.000602 0 0 MKI67 4288 broad.mit.edu 37 10 129904199 129904199 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:129904199C>T uc001lke.2 - 13 6100 c.5905G>A c.(5905-5907)GAA>AAA p.E1969K MKI67_uc001lkf.2_Missense_Mutation_p.E1609K|MKI67_uc009yav.1_Missense_Mutation_p.E1544K|MKI67_uc009yaw.1_Missense_Mutation_p.E1119K NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1969 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GTCATTGATTCCTCAGTGTGA 0.483 NA 75 250 0 0 0.00361 0 0 MKI67 4288 broad.mit.edu 37 10 129913427 129913427 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:129913427T>C uc001lke.2 - 7 1440 c.1245A>G c.(1243-1245)CCA>CCG p.P415P MKI67_uc001lkf.2_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 415 cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGAGATTTTCTGGCTTAGTGG 0.433 NA 25 61 0 0 0.00333 0 0 EBF3 253738 broad.mit.edu 37 10 131666158 131666158 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:131666158G>A uc001lki.1 - 9 832 c.773C>T c.(772-774)GCC>GTC p.A258V NM_001005463 NP_001005463 Q9H4W6 COE3_HUMAN early B-cell factor 3 267 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding|protein binding central_nervous_system(1)|pancreas(1) 2 all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764) OV - Ovarian serous cystadenocarcinoma(35;0.00513) GGGACTGATGGCCTTGATGCA 0.607 NA 12 31 0 0 0.001855 0 0 TCERG1L 256536 broad.mit.edu 37 10 133106583 133106583 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr10:133106583C>A uc001lkp.2 - 3 647 c.561G>T c.(559-561)GGG>GGT p.G187G NM_174937 NP_777597 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 187 large_intestine(2)|ovary(2) 4 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) GCTTTTCATGCCCATGGAAAA 0.493 NA 10 48 0.00829132 0.00878497 0.008291 1 0 B4GALNT4 338707 broad.mit.edu 37 11 376276 376276 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:376276A>T uc001lpb.2 + 13 1231 c.1222A>T c.(1222-1224)ATG>TTG p.M408L NM_178537 NP_848632 Q76KP1 B4GN4_HUMAN beta 408 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity pancreas(1) 1 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) ATACATGAAGATGGACAAGGA 0.672 NA 8 38 0 0 0.004482 0 0 MUC2 4583 broad.mit.edu 37 11 1075905 1075905 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:1075905G>C uc001lsx.1 + 2 358 c.331G>C c.(331-333)GTG>CTG p.V111L NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 111 VWFD 1. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCACCTGGCTGTGCTTAACGG 0.627 NA 2 6 0 0 0.004672 0 0 KRTAP5-6 440023 broad.mit.edu 37 11 1718521 1718521 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:1718521G>T uc001lua.2 + 1 97 c.46G>T c.(46-48)GGC>TGC p.G16C NM_001012416 NP_001012416 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 16 keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CGGCTGTGGGGGCTGTGGCTC 0.652 NA 45 175 1.30916e-28 2.01339e-28 0.00361 1 0 TRIM21 6737 broad.mit.edu 37 11 4406605 4406605 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:4406605G>A uc001lyy.1 - 7 1451 c.1338C>T c.(1336-1338)TTC>TTT p.F446F NM_003141 NP_003132 P19474 RO52_HUMAN tripartite motif protein 21 446 B30.2/SPRY. cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization cytoplasmic mRNA processing body|nucleus DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|lung(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194) AACCAGGACTGAAGAAGGGCC 0.488 NA 5 32 0 0 0.000602 0 0 OR52K2 119774 broad.mit.edu 37 11 4470615 4470615 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:4470615T>G uc001lyz.1 + 1 46 c.46T>G c.(46-48)TTG>GTG p.L16V NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TGCCTTCTTGTTGGTGGGGAT 0.512 NA 11 100 0 0 0.001368 0 0 C11orf42 160298 broad.mit.edu 37 11 6231320 6231320 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:6231320C>A uc001mcj.2 + 2 361 c.313C>A c.(313-315)CGA>AGA p.R105R NM_173525 NP_775796 Q8N5U0 CK042_HUMAN hypothetical protein LOC160298 105 ovary(1) 1 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCAAATGGCCGAGCAGAGAG 0.577 NA 23 66 1.85244e-09 2.31754e-09 0.00333 1 0 CCKBR 887 broad.mit.edu 37 11 6291926 6291926 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:6291926C>A uc001mcp.2 + 4 897 c.704C>A c.(703-705)GCC>GAC p.A235D CCKBR_uc001mcq.2_Missense_Mutation_p.A163D|CCKBR_uc001mcr.2_Missense_Mutation_p.A235D|CCKBR_uc001mcs.2_Missense_Mutation_p.A235D|CCKBR_uc001mct.1_5'Flank NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 235 Helical; Name=5; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) GTGGTTATGGCCGTGGCCTAC 0.567 NA 55 83 2.5401e-28 3.89273e-28 0.00361 1 0 OR10A2 341276 broad.mit.edu 37 11 6891751 6891751 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:6891751G>A uc001meu.1 + 1 766 c.766G>A c.(766-768)GAG>AAG p.E256K NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 256 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TAATTCACCTGAGGGCAAGAA 0.423 NA 65 150 0 0 0.00361 0 0 RBMXL2 27288 broad.mit.edu 37 11 7110638 7110638 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:7110638C>A uc001mfc.2 + 1 474 c.287C>A c.(286-288)CCG>CAG p.P96Q NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 96 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) CGGCGGGGCCCGCCGCCTCCC 0.612 NA 5 7 0.00116845 0.00125944 0.001168 1 0 IPO7 10527 broad.mit.edu 37 11 9455345 9455345 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:9455345C>T uc001mho.2 + 18 2168 c.2026C>T c.(2026-2028)CCC>TCC p.P676S NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 676 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) GCAGCTACTACCCCTTGTATT 0.393 NA 10 80 0 0 0.008291 0 0 MRGPRX4 117196 broad.mit.edu 37 11 18194989 18194989 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:18194989C>A uc001mnv.1 + 1 606 c.186C>A c.(184-186)TCC>TCA p.S62S NM_054032 NP_473373 Q96LA9 MRGX4_HUMAN MAS-related GPR, member X4 62 Helical; Name=2; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 ACGCTGTCTCCATCTACATCC 0.547 NA 24 91 8.24728e-16 1.15435e-15 0.004656 1 0 LDHC 3948 broad.mit.edu 37 11 18434318 18434318 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:18434318C>G uc001mon.3 + 2 166 c.54C>G c.(52-54)AAC>AAG p.N18K LDHC_uc001mom.3_Missense_Mutation_p.N18K|LDHC_uc009yhp.2_Missense_Mutation_p.N18K|LDHC_uc001moo.3_5'UTR|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_5'UTR NM_017448 NP_059144 P07864 LDHC_HUMAN L-lactate dehydrogenase C 18 glycolysis cytoplasm binding|L-lactate dehydrogenase activity 0 NADH(DB00157) ATGATGAAAACTCCCAGTGTA 0.423 NA 30 41 0 0 0.007291 0 0 ANO5 203859 broad.mit.edu 37 11 22272548 22272548 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:22272548G>C uc001mqi.2 + 12 1488 c.1171G>C c.(1171-1173)GGA>CGA p.G391R ANO5_uc001mqj.2_Missense_Mutation_p.G390R NM_213599 NP_998764 Q75V66 ANO5_HUMAN anoctamin 5 isoform a 391 Helical; (Potential). chloride channel complex|endoplasmic reticulum membrane chloride channel activity central_nervous_system(3)|ovary(1) 4 AATATTCATGGGAATTTGGGG 0.303 NA 10 31 0 0 0.001368 0 0 KCNA4 3739 broad.mit.edu 37 11 30032523 30032523 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:30032523T>A uc001msk.2 - 2 2855 c.1703A>T c.(1702-1704)CAC>CTC p.H568L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 568 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AGTCTCTCTGTGGTAGAAATA 0.468 NA 25 45 0 0 0.00278 0 0 CCDC73 493860 broad.mit.edu 37 11 32676475 32676475 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:32676475G>T uc001mtv.2 - 10 733 c.689C>A c.(688-690)ACA>AAA p.T230K CCDC73_uc001mtw.1_Missense_Mutation_p.T230K NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 230 ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) ATATTGACATGTGACTTTGGA 0.289 NA 8 23 0.000157383 0.000173062 0.00308 1 0 PHF21A 51317 broad.mit.edu 37 11 45991437 45991437 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:45991437G>A uc001ncc.3 - 8 1252 c.628C>T c.(628-630)CCT>TCT p.P210S PHF21A_uc001ncb.3_Missense_Mutation_p.P211S|PHF21A_uc009ykx.2_Missense_Mutation_p.P211S|PHF21A_uc001nce.2_Missense_Mutation_p.P211S|PHF21A_uc001nca.1_5'UTR NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 210 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 ATGGGCTGAGGAGGTGTTGCC 0.403 NA 10 10 0 0 0.001368 0 0 ARFGAP2 84364 broad.mit.edu 37 11 47198363 47198363 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:47198363A>C uc001ndt.2 - 1 57 c.42T>G c.(40-42)TTT>TTG p.F14L ARFGAP2_uc010rha.1_5'Flank|ARFGAP2_uc010rhb.1_Missense_Mutation_p.F14L|ARFGAP2_uc001ndu.2_Missense_Mutation_p.F14L|ARFGAP2_uc010rhc.1_5'UTR|ARFGAP2_uc010rhd.1_Missense_Mutation_p.F14L|ARFGAP2_uc001ndv.1_Missense_Mutation_p.F14L NM_032389 NP_115765 Q8N6H7 ARFG2_HUMAN ADP-ribosylation factor GTPase activating 14 Arf-GAP. protein transport|regulation of ARF GTPase activity|vesicle-mediated transport Golgi membrane|nucleolus|plasma membrane ARF GTPase activator activity|zinc ion binding ovary(1) 1 GAAGCCTCTTAAAAAGAGTCT 0.647 NA 17 34 0 0 0.004007 0 0 MADD 8567 broad.mit.edu 37 11 47330186 47330186 + Silent SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:47330186A>T uc001ner.1 + 25 3995 c.3804A>T c.(3802-3804)GCA>GCT p.A1268A MADD_uc001neq.2_Silent_p.A1230A|MADD_uc001nev.1_Silent_p.A1187A|MADD_uc001nes.1_Silent_p.A1207A|MADD_uc001net.1_Silent_p.A1250A|MADD_uc009yln.1_Silent_p.A1183A|MADD_uc001neu.1_Silent_p.A1187A|MADD_uc001nex.2_Silent_p.A1268A|MADD_uc001nez.2_Silent_p.A1186A|MADD_uc001new.2_Silent_p.A1229A|MADD_uc009ylo.2_Silent_p.A182A NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 1268 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) AGAAGCTGGCAGGCAGCCCCA 0.512 NA 14 71 0 0 0.003163 0 0 OR4B1 119765 broad.mit.edu 37 11 48238557 48238557 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:48238557T>C uc010rhs.1 + 1 196 c.196T>C c.(196-198)TTG>CTG p.L66L NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 CTGCCTGTCCTTGGTGGAGAT 0.483 NA 68 123 0 0 0.00361 0 0 OR4C46 119749 broad.mit.edu 37 11 51515322 51515322 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:51515322G>A uc010ric.1 + 1 41 c.41G>A c.(40-42)GGG>GAG p.G14E NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTTTTGCTGGGGCTTACAGAG 0.333 NA 25 91 0 0 0.003954 0 0 OR4A15 81328 broad.mit.edu 37 11 55135885 55135885 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:55135885G>A uc010rif.1 + 1 526 c.526G>A c.(526-528)GCC>ACC p.A176T NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 176 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GCTGTTGGCGGCCTGGATTGG 0.438 NA 76 149 0 0 0.00361 0 0 OR4C15 81309 broad.mit.edu 37 11 55321892 55321892 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:55321892A>G uc010rig.1 + 1 110 c.110A>G c.(109-111)AAT>AGT p.N37S NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CTTTGTCCTAATTGCAGACTA 0.378 NA HNSCC(20;0.049) 63 133 0 0 0.00361 0 0 OR5D18 219438 broad.mit.edu 37 11 55588013 55588013 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:55588013C>T uc010rin.1 + 1 908 c.908C>T c.(907-909)ACC>ATC p.T303I NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) GATACAGTCACCGAGATACTG 0.398 NA 25 50 0 0 0.00333 0 0 OR8J3 81168 broad.mit.edu 37 11 55904398 55904398 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:55904398T>C uc010riz.1 - 1 797 c.797A>G c.(796-798)CAC>CGC p.H266R NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.00693) ATCCAGTGAGTGGTTGGTTTG 0.418 NA 20 95 0 0 0.001882 0 0 OR5T1 390155 broad.mit.edu 37 11 56043784 56043784 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:56043784C>A uc001nio.1 + 1 670 c.670C>A c.(670-672)CTG>ATG p.L224M NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 224 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) AGTCACTATCCTGATTGTCCT 0.428 NA 53 207 4.25531e-23 6.35383e-23 0.00361 1 0 OR8J1 219477 broad.mit.edu 37 11 56127836 56127836 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:56127836C>G uc010rjh.1 + 1 114 c.114C>G c.(112-114)ACC>ACG p.T38T NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ATGGGCTGACCATGGCAGGGA 0.493 NA 49 166 0 0 0.00361 0 0 OR5M8 219484 broad.mit.edu 37 11 56258013 56258013 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:56258013G>T uc001nix.1 - 1 834 c.834C>A c.(832-834)ACC>ACA p.T278T NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GGATTACTGTGGTATAAAATA 0.343 NA 13 79 4.3838e-07 5.15185e-07 0.001855 1 0 OR5B21 219968 broad.mit.edu 37 11 58275014 58275014 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:58275014C>A uc010rki.1 - 1 565 c.565G>T c.(565-567)GAC>TAC p.D189Y NM_001005218 NP_001005218 A6NL26 OR5BL_HUMAN olfactory receptor, family 5, subfamily B, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGCGTGTGTCAGAGCATGAG 0.463 NA 21 43 3.8784e-16 5.446e-16 0.001882 1 0 GLYAT 10249 broad.mit.edu 37 11 58480262 58480262 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:58480262A>T uc001nnb.2 - 4 442 c.287T>A c.(286-288)ATC>AAC p.I96N GLYAT_uc001nnc.2_Missense_Mutation_p.I96N NM_201648 NP_964011 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase isoform a 96 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity 0 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) TTTCCAGTTGATGAGTTCTGG 0.398 NA 23 65 0 0 0.00278 0 0 OR4D11 219986 broad.mit.edu 37 11 59271729 59271729 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:59271729T>C uc001noa.1 + 1 681 c.681T>C c.(679-681)TCT>TCC p.S227S NM_001004706 NP_001004706 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 CGCTGAGGTCTCAGGCAGGAG 0.527 NA 53 184 0 0 0.00361 0 0 OR4D9 390199 broad.mit.edu 37 11 59282749 59282749 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:59282749C>T uc010rkv.1 + 1 364 c.364C>T c.(364-366)CGC>TGC p.R122C NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 122 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGCGTTTGACCGCTATATAGC 0.527 NA 5 101 0 0 0.000602 0 0 OR4D9 390199 broad.mit.edu 37 11 59283102 59283102 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:59283102C>A uc010rkv.1 + 1 717 c.717C>A c.(715-717)ACC>ACA p.T239T NM_001004711 NP_001004711 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCATCTCCACCTGCACCTCCC 0.537 NA 108 160 2.87887e-39 4.55603e-39 0.00361 1 0 MS4A3 932 broad.mit.edu 37 11 59828748 59828749 + Missense_Mutation DNP GG GG TT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:59828748_59828749GG>TT uc001nom.2 + 2 243_244 c.115_116GG>TT c.(115-117)GGA>TTA p.G39L MS4A3_uc001non.2_Missense_Mutation_p.G39L|MS4A3_uc001noo.2_Intron NM_006138 NP_006129 Q96HJ5 MS4A3_HUMAN membrane-spanning 4-domains, subfamily A, member 39 Cytoplasmic (Potential). endomembrane system|integral to membrane|perinuclear region of cytoplasm protein binding|receptor activity ovary(2)|skin(1) 3 all_epithelial(135;0.245) GCCCATAGATGGATCACCAGAT 0.426 NA 8 50 0 0 0.004672 0 0 TMEM132A 54972 broad.mit.edu 37 11 60703723 60703723 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:60703723G>T uc001nqj.2 + 11 2609 c.2416G>T c.(2416-2418)GGT>TGT p.G806C TMEM132A_uc001nqi.2_Missense_Mutation_p.G807C|TMEM132A_uc001nqm.2_Missense_Mutation_p.G16C NM_178031 NP_821174 Q24JP5 T132A_HUMAN transmembrane protein 132A isoform b 806 Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).|Extracellular (Potential). endoplasmic reticulum membrane|Golgi membrane|integral to membrane skin(1) 1 GGGCAACACAGGTGTGAGGGG 0.557 NA 23 53 5.45024e-15 7.47266e-15 0.00333 1 0 VWCE 220001 broad.mit.edu 37 11 61026549 61026549 + Silent SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:61026549A>G uc001nra.2 - 20 2745 c.2466T>C c.(2464-2466)GGT>GGC p.G822G VWCE_uc001nrb.2_RNA NM_152718 NP_689931 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 822 extracellular region calcium ion binding ovary(1) 1 GTGAGTGTGGACCATGAGCTC 0.597 NA 10 35 0 0 0.008291 0 0 AHNAK 79026 broad.mit.edu 37 11 62288621 62288621 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:62288621C>A uc001ntl.2 - 5 13568 c.13268G>T c.(13267-13269)GGC>GTC p.G4423V AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4423 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) CAAACTGGGGCCTTTTATGTC 0.443 NA 47 186 7.88023e-25 1.18885e-24 0.00361 1 0 PPP2R5B 5526 broad.mit.edu 37 11 64694315 64694315 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:64694315G>A uc001oby.2 + 3 916 c.331G>A c.(331-333)GTG>ATG p.V111M PPP2R5B_uc001obz.2_Missense_Mutation_p.V111M NM_006244 NP_006235 Q15173 2A5B_HUMAN beta isoform of regulatory subunit B56, protein 111 signal transduction cytoplasm|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(2) 2 CAACGAGCTGGTGGAGTGTGT 0.652 NA 18 61 0 0 0.006122 0 0 TMEM151A 256472 broad.mit.edu 37 11 66061839 66061839 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:66061839C>A uc001ohl.2 + 2 234 c.122C>A c.(121-123)TCG>TAG p.S41* NM_153266 NP_694998 Q8N4L1 T151A_HUMAN transmembrane protein 151A 41 integral to membrane central_nervous_system(1) 1 TGCCGCGAGTCGCACTGGAAG 0.692 NA 13 75 9.31168e-06 1.06559e-05 0.001855 1 0 CD248 57124 broad.mit.edu 37 11 66084402 66084402 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:66084402T>A uc001ohm.1 - 1 114 c.97A>T c.(97-99)AGC>TGC p.S33C NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 33 C-type lectin.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) GCGTAGCAGCTGCTGGGGCCG 0.761 NA 6 11 0 0 0.001168 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432005 67432005 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:67432005C>A uc001omr.2 - 8 1174 c.735G>T c.(733-735)GAG>GAT p.E245D ALDH3B2_uc001oms.2_Missense_Mutation_p.E245D|ALDH3B2_uc009ysa.1_Missense_Mutation_p.E245D NM_000695 NP_000686 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3B2 245 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase lung(1)|kidney(1) 2 NADH(DB00157) CAGGCTCCGTCTCCTGCACGT 0.657 NA 20 58 0.00121646 0.00130957 0.008871 1 0 FGF3 2248 broad.mit.edu 37 11 69631115 69631115 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:69631115C>G uc001oph.2 - 2 788 c.297G>C c.(295-297)ATG>ATC p.M99I NM_005247 NP_005238 P11487 FGF3_HUMAN fibroblast growth factor 3 precursor 99 fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation extracellular region growth factor activity ovary(1)|lung(1) 2 LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278) CCCTCTTGTTCATGGCCAGGT 0.592 NA 5 92 0 0 0.001168 0 0 INPPL1 3636 broad.mit.edu 37 11 71948810 71948810 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:71948810G>C uc001osf.2 + 26 3669 c.3522G>C c.(3520-3522)CGG>CGC p.R1174R INPPL1_uc001osg.2_Silent_p.R932R NM_001567 NP_001558 O15357 SHIP2_HUMAN inositol polyphosphate phosphatase-like 1 1174 actin filament organization|cell adhesion|endocytosis actin cortical patch|cytosol actin binding|SH2 domain binding|SH3 domain binding skin(2)|ovary(1)|breast(1) 4 CCCGCATCCGGGAGAGCATCC 0.672 NA 3 13 0 0 0.004672 0 0 LRRC32 2615 broad.mit.edu 37 11 76371892 76371892 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:76371892C>A uc001oxq.3 - 3 988 c.745G>T c.(745-747)GAC>TAC p.D249Y LRRC32_uc001oxr.3_Missense_Mutation_p.D249Y|LRRC32_uc010rsf.1_Missense_Mutation_p.D249Y NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 249 LRR 9.|Extracellular (Potential). integral to plasma membrane 0 TCCCGCAGGTCAAGCCAGGTG 0.622 NA 15 57 3.27435e-08 3.94915e-08 0.00245 1 0 MYO7A 4647 broad.mit.edu 37 11 76867955 76867955 + Missense_Mutation SNP G G A rs111033283 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:76867955G>A uc001oyb.2 + 7 912 c.640G>A c.(640-642)GGA>AGA p.G214R MYO7A_uc010rsl.1_Missense_Mutation_p.G214R|MYO7A_uc010rsm.1_Missense_Mutation_p.G203R|MYO7A_uc001oyc.2_Missense_Mutation_p.G214R NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 214 Myosin head-like. G -> R (in USH1B). actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 AAGCCGTTTCGGAAAGTACAT 0.582 NA 5 56 0 0 0.00308 0 0 CCDC89 220388 broad.mit.edu 37 11 85396854 85396854 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:85396854T>A uc001pau.1 - 1 467 c.320A>T c.(319-321)CAG>CTG p.Q107L NM_152723 NP_689936 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 107 Potential. cytoplasm|nucleus 0 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) CTCAGCCTCCTGCATCATCTT 0.562 NA 13 89 0 0 0.001855 0 0 CCDC83 220047 broad.mit.edu 37 11 85627137 85627137 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:85627137G>A uc001pbh.1 + 10 1453 c.941G>A c.(940-942)AGC>AAC p.S314N CCDC83_uc001pbg.1_Missense_Mutation_p.S345N|CCDC83_uc001pbi.1_RNA|CCDC83_uc001pbj.1_Missense_Mutation_p.S214N NM_173556 NP_775827 Q8IWF9 CCD83_HUMAN coiled-coil domain containing 83 314 skin(1) 1 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) TCAGATGAGAGCACTATCTTA 0.373 NA 28 159 0 0 0.00632 0 0 Unknown 0 broad.mit.edu 37 11 89774486 89774486 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:89774486G>T uc010rua.1 + 7 1250 c.1127G>T c.(1126-1128)GGA>GTA p.G376V NM_020358 NP_065091 ring finger protein 18 NA GGAAAGGAGGGACTCTTTCTT 0.443 NA 24 87 1.64293e-13 2.20406e-13 0.00333 1 0 SLC35F2 54733 broad.mit.edu 37 11 107676120 107676120 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:107676120C>A uc001pjq.2 - 5 1117 c.696G>T c.(694-696)GTG>GTT p.V232V SLC35F2_uc010rvu.1_Silent_p.V84V|SLC35F2_uc001pjs.2_3'UTR NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 232 Helical; (Potential). transport integral to membrane central_nervous_system(1) 1 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) CAAACAGGCCCACCATTCCTA 0.363 NA 10 28 0.00621372 0.00660776 0.006214 1 0 SC5DL 6309 broad.mit.edu 37 11 121174109 121174109 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:121174109G>C uc001pxu.2 + 2 173 c.25G>C c.(25-27)GAT>CAT p.D9H SC5DL_uc001pxs.1_Missense_Mutation_p.D9H|SC5DL_uc001pxt.2_Missense_Mutation_p.D9H|SC5DL_uc001pxv.2_Missense_Mutation_p.D9H NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 9 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) CCGTGTTGCAGATTACTATTT 0.383 NA 24 78 0 0 0.00333 0 0 UBASH3B 84959 broad.mit.edu 37 11 122647789 122647789 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:122647789C>T uc001pyi.3 + 3 633 c.273C>T c.(271-273)GTC>GTT p.V91V NM_032873 NP_116262 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing, 91 cytoplasm|nucleus protein tyrosine phosphatase activity central_nervous_system(1) 1 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) GGGAGTACGTCCTCTACCTCC 0.547 NA 8 54 0 0 0.00308 0 0 OR10G9 219870 broad.mit.edu 37 11 123894352 123894352 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:123894352C>T uc010sad.1 + 1 633 c.633C>T c.(631-633)CTC>CTT p.L211L NM_001001953 NP_001001953 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GCTGCTTTCTCCTGATAGTGC 0.567 NA 27 121 0 0 0.004656 0 0 ROBO3 64221 broad.mit.edu 37 11 124745497 124745497 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:124745497G>A uc001qbc.2 + 15 2529 c.2337G>A c.(2335-2337)TTG>TTA p.L779L ROBO3_uc010saq.1_5'Flank|ROBO3_uc001qbd.2_5'Flank|ROBO3_uc010sar.1_5'Flank|ROBO3_uc001qbe.2_5'Flank|ROBO3_uc001qbf.1_5'Flank NM_022370 NP_071765 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 779 Fibronectin type-III 3.|Extracellular (Potential). axon midline choice point recognition integral to membrane receptor activity breast(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) CGGTGGCCTTGGGGGGTGATG 0.607 NA 16 34 0 0 0.004007 0 0 SNX19 399979 broad.mit.edu 37 11 130785484 130785484 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:130785484C>G uc001qgk.3 - 1 899 c.351G>C c.(349-351)TGG>TGC p.W117C SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.W117C|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 117 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) CGGAACGGTACCAAGATAACA 0.542 NA 25 38 0 0 0.00333 0 0 B3GAT1 27087 broad.mit.edu 37 11 134251899 134251899 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:134251899C>T uc001qhq.2 - 6 1199 c.938G>A c.(937-939)CGG>CAG p.R313Q B3GAT1_uc001qhr.2_Missense_Mutation_p.R313Q|B3GAT1_uc010scv.1_Missense_Mutation_p.R326Q NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 313 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CTTCTCTGTCCGTGTGTGCCA 0.597 NA 7 51 0 0 0.00308 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2022273 2022273 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:2022273G>T uc001qjp.2 - 3 573 c.342C>A c.(340-342)ATC>ATA p.I114I CACNA2D4_uc009zds.1_RNA|CACNA2D4_uc009zdt.1_Silent_p.I114I NM_172364 NP_758952 Q7Z3S7 CA2D4_HUMAN voltage-gated calcium channel alpha(2)delta-4 114 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity ovary(1) 1 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCACCTCCTCGATCTTCAGAC 0.537 Colon(2;101 179 21030 23310 28141) NA 15 31 3.41278e-10 4.3255e-10 0.00499 1 0 NCAPD2 9918 broad.mit.edu 37 12 6640523 6640523 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:6640523C>T uc001qoo.2 + 32 4197 c.4151C>T c.(4150-4152)ACA>ATA p.T1384I NCAPD2_uc010sfd.1_Missense_Mutation_p.T1339I NM_014865 NP_055680 Q15021 CND1_HUMAN non-SMC condensin I complex, subunit D2 1384 cell division|mitotic chromosome condensation condensin core heterodimer|cytoplasm histone binding ovary(2)|lung(1)|breast(1)|kidney(1) 5 GAAGACGAGACACCCAAGAAA 0.443 NA 9 52 0 0 0.008291 0 0 CLEC1B 51266 broad.mit.edu 37 12 10149814 10149814 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:10149814T>A uc001qwu.2 - 3 428 c.228A>T c.(226-228)TTA>TTT p.L76F CLEC1B_uc009zhd.2_Missense_Mutation_p.L43F NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 76 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 AGCGCTTTGCTAATTGTTGCA 0.363 NA 6 38 0 0 0.001984 0 0 PTPRO 5800 broad.mit.edu 37 12 15652394 15652394 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:15652394C>A uc001rcv.1 + 4 701 c.527C>A c.(526-528)ACA>AAA p.T176K PTPRO_uc001rcw.1_Missense_Mutation_p.T176K|PTPRO_uc001rcu.1_Missense_Mutation_p.T176K NM_030667 NP_109592 Q16827 PTPRO_HUMAN receptor-type protein tyrosine phosphatase O 176 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 9 Hepatocellular(102;0.244) AAGGGAAAAACAGTATTTAAT 0.338 NA 28 72 1.2476e-16 1.75752e-16 0.00632 1 0 ABCC9 10060 broad.mit.edu 37 12 21958120 21958120 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:21958120C>G uc001rfi.1 - 38 4658 c.4638G>C c.(4636-4638)ATG>ATC p.M1546I ABCC9_uc001rfh.2_Intron|ABCC9_uc001rfj.1_Missense_Mutation_p.M1510I|ABCC9_uc001rfg.2_Intron NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1546 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity p.R1546H(1) ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACTTGTTGGTCATCACCAAAG 0.438 NA 5 76 0 0 0.001168 0 0 C12orf71 728858 broad.mit.edu 37 12 27235055 27235055 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:27235055T>C uc001rhq.2 - 1 401 c.362A>G c.(361-363)AAA>AGA p.K121R NM_001080406 NP_001073875 A8MTZ7 CL071_HUMAN hypothetical protein LOC728858 121 0 TGTTCTCTCTTTTGGTAACTT 0.408 NA 6 24 0 0 0.001984 0 0 C12orf35 55196 broad.mit.edu 37 12 32134413 32134413 + Missense_Mutation SNP G G T rs138191568 byFrequency TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:32134413G>T uc001rks.2 + 4 938 c.524G>T c.(523-525)CGA>CTA p.R175L NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 175 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) AATTCTACACGACTTCCTGTA 0.418 NA 13 83 1.05317e-09 1.32329e-09 0.00245 1 0 C12orf35 55196 broad.mit.edu 37 12 32138614 32138614 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:32138614G>C uc001rks.2 + 4 5139 c.4725G>C c.(4723-4725)AAG>AAC p.K1575N C12orf35_uc001rkt.2_5'Flank NM_018169 NP_060639 Q9HCM1 CL035_HUMAN hypothetical protein LOC55196 1575 ovary(1)|skin(1) 2 all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0114) CCCAAGTAAAGGATCAAAAGA 0.358 NA 16 97 0 0 0.003163 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46355641 46355641 + Splice_Site SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:46355641C>T uc001rox.2 - 3 349 c.62_splice c.e3-1 p.G21_splice SFRS2IP_uc001roy.1_Splice_Site_p.G85_splice|SFRS2IP_uc009zki.1_Splice_Site|SFRS2IP_uc001roz.2_Splice_Site_p.G21_splice NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) TTTTCTTCACCTGTTAAAGTA 0.383 NA 26 33 0 0 0.00632 0 0 OR8S1 341568 broad.mit.edu 37 12 48921694 48921694 + Splice_Site SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:48921694G>A uc010slu.1 + 2 889 c.889_splice c.e2-1 p.G297_splice NM_001005203 NP_001005203 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCTGTTACAAGGGGGAAAGAA 0.468 NA 29 26 0 0 0.009535 0 0 KRT73 319101 broad.mit.edu 37 12 53004427 53004427 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:53004427G>C uc001sas.2 - 7 1338 c.1303C>G c.(1303-1305)CGC>GGC p.R435G NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 435 Rod.|Coil 2. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) AGCAGCTTGCGGTAGGTGGCG 0.602 NA 9 46 0 0 0.000978 0 0 ITGA5 3678 broad.mit.edu 37 12 54802718 54802718 + Nonsense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:54802718G>A uc001sga.2 - 5 672 c.604C>T c.(604-606)CAG>TAG p.Q202* ITGA5_uc010sow.1_RNA|ITGA5_uc009znp.1_RNA NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 202 Extracellular (Potential).|FG-GAP 3. angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 CAGTAACCCTGTCCTGCTGCC 0.577 NA 30 35 0 0 0.008361 0 0 PAN2 9924 broad.mit.edu 37 12 56720556 56720556 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:56720556G>A uc001skx.2 - 7 1480 c.1107C>T c.(1105-1107)TCC>TCT p.S369S PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.S369S|PAN2_uc001sky.2_Silent_p.S369S NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 369 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CAGTCTCACGGGAGTAGGGGT 0.587 NA 36 53 0 0 0.004289 0 0 PTPRB 5787 broad.mit.edu 37 12 71016262 71016262 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:71016262C>A uc001swc.3 - 3 660 c.616G>T c.(616-618)GAG>TAG p.E206* PTPRB_uc001swa.3_Nonsense_Mutation_p.E206*|PTPRB_uc001swd.3_Nonsense_Mutation_p.E205*|PTPRB_uc009zrr.1_Nonsense_Mutation_p.E85*|PTPRB_uc001swe.2_Nonsense_Mutation_p.E206* NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:Variant_position_missing_in_P23467_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGCTGCCTCTCGCTGCTGTTT 0.468 NA 23 31 7.87624e-14 1.06482e-13 0.00278 1 0 LGR5 8549 broad.mit.edu 37 12 71953410 71953410 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:71953410G>T uc001swl.2 + 7 809 c.761G>T c.(760-762)AGG>ATG p.R254M LGR5_uc001swm.2_Missense_Mutation_p.R254M|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 254 Extracellular (Potential).|LRR 8. integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 ACTGCAATTAGGACACTCTCC 0.269 NA 14 30 1.15088e-07 1.36725e-07 0.004007 1 0 TMEM19 55266 broad.mit.edu 37 12 72090237 72090237 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:72090237T>C uc001sws.2 + 3 849 c.266T>C c.(265-267)CTA>CCA p.L89P TMEM19_uc001swr.1_Missense_Mutation_p.L75P|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 89 Helical; (Potential). integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) GGATTTATCCTAACCATTGCA 0.333 NA 32 62 0 0 0.003271 0 0 NTN4 59277 broad.mit.edu 37 12 96131706 96131706 + Missense_Mutation SNP C C G rs140109505 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:96131706C>G uc001tei.2 - 3 1251 c.802G>C c.(802-804)GCT>CCT p.A268P NTN4_uc009ztf.2_Missense_Mutation_p.A268P|NTN4_uc009ztg.2_Missense_Mutation_p.A231P NM_021229 NP_067052 Q9HB63 NET4_HUMAN netrin 4 precursor 268 Laminin EGF-like 1. axon guidance basement membrane|plasma membrane upper_aerodigestive_tract(1)|ovary(1) 2 CATTGATCAGCGTGGCCATTG 0.458 NA 21 32 0 0 0.001882 0 0 SLC25A3 5250 broad.mit.edu 37 12 98992384 98992384 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:98992384A>T uc001tfo.2 + 5 667 c.547A>T c.(547-549)ATG>TTG p.M183L SLC25A3_uc001tfm.2_Missense_Mutation_p.M182L|SLC25A3_uc001tfn.2_Missense_Mutation_p.M182L|SLC25A3_uc001tfp.2_Missense_Mutation_p.M182L|SLC25A3_uc001tfq.2_Missense_Mutation_p.M52L|SLC25A3_uc001tfr.2_Missense_Mutation_p.M183L|SLC25A3_uc001tfs.2_Missense_Mutation_p.M139L|SLC25A3_uc009ztn.2_Missense_Mutation_p.M182L|SLC25A3_uc001tft.2_Missense_Mutation_p.M182L|SNORA53_uc001tfu.1_5'Flank NM_005888 NP_005879 Q00325 MPCP_HUMAN solute carrier family 25 member 3 isoform a 183 Solcar 2.|Helical; Name=3; (Potential). generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity 0 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) CCTGGCTCCTATGGAAGCTGC 0.458 NA 30 40 0 0 0.008361 0 0 C12orf42 374470 broad.mit.edu 37 12 103872158 103872158 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:103872158A>T uc001tjt.2 - 2 135 c.47T>A c.(46-48)CTA>CAA p.L16Q C12orf42_uc001tjs.2_RNA|C12orf42_uc009zuf.1_Missense_Mutation_p.L16Q|C12orf42_uc001tju.2_5'UTR NM_198521 NP_940923 Q96LP6 CL042_HUMAN hypothetical protein LOC374470 16 ovary(1)|central_nervous_system(1) 2 TCTGATGGTTAGCAAGAATTC 0.348 NA 11 7 0 0 0.00245 0 0 GLT8D2 83468 broad.mit.edu 37 12 104393245 104393245 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:104393245A>G uc001tkh.1 - 6 738 c.332T>C c.(331-333)GTG>GCG p.V111A GLT8D2_uc001tki.1_Missense_Mutation_p.V111A NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 111 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 GTTGAATTCCACGATTTTAAA 0.428 NA 56 47 0 0 0.00361 0 0 UNG 7374 broad.mit.edu 37 12 109547647 109547647 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:109547647T>G uc001tnz.1 + 7 885 c.815T>G c.(814-816)GTA>GGA p.V272G UNG_uc001toa.1_Missense_Mutation_p.V263G NM_080911 NP_550433 P13051 UNG_HUMAN uracil-DNA glycosylase isoform UNG2 272 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity lung(1)|central_nervous_system(1) 2 CGGCACCATGTACTACAGACG 0.353 NA BER_DNA_glycosylases Immune_Deficiency_with_Hyper-IgM 3 157 0 0 0.009096 0 0 RIMBP2 23504 broad.mit.edu 37 12 130907094 130907094 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:130907094G>C uc001uil.2 - 13 2538 c.2374C>G c.(2374-2376)CCA>GCA p.P792A NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 792 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GCAGAGGCTGGGTTCCCTAAA 0.537 NA 4 27 0 0 0.009096 0 0 RIMBP2 23504 broad.mit.edu 37 12 130963483 130963483 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:130963483G>T uc001uil.2 - 3 240 c.76C>A c.(76-78)CAG>AAG p.Q26K RIMBP2_uc001uim.2_5'UTR NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 26 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) ATTTCCTGCTGCTTGGCACTG 0.662 NA 16 52 5.35267e-07 6.282e-07 0.007413 1 0 GPR133 283383 broad.mit.edu 37 12 131466608 131466608 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:131466608G>C uc001uit.3 + 5 1049 c.490G>C c.(490-492)GGC>CGC p.G164R GPR133_uc010tbm.1_Missense_Mutation_p.G196R NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 164 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CAGCCCCCCAGGTGAGTGACA 0.612 NA 6 43 0 0 0.001984 0 0 GPR133 283383 broad.mit.edu 37 12 131490582 131490582 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr12:131490582G>T uc001uit.3 + 12 1880 c.1321G>T c.(1321-1323)GCC>TCC p.A441S GPR133_uc010tbm.1_Missense_Mutation_p.A473S NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 441 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CATCTGGCCCGCCCACACCAA 0.652 NA 11 19 3.86212e-05 4.30661e-05 0.008291 1 0 FLT3 2322 broad.mit.edu 37 13 28623625 28623625 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:28623625C>T uc001urw.2 - 8 1014 c.932G>A c.(931-933)CGG>CAG p.R311Q FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.R311Q NM_004119 NP_004110 P36888 FLT3_HUMAN fms-related tyrosine kinase 3 precursor 311 Extracellular (Potential).|Ig-like C2-type. positive regulation of cell proliferation integral to plasma membrane ATP binding|vascular endothelial growth factor receptor activity haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1) 8549 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0156)|Ovarian(182;0.0392) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212) Sorafenib(DB00398)|Sunitinib(DB01268) AAACAGAATCCGTATCATAGT 0.378 NA Mis|O AML|ALL 36 46 0 0 0.002836 0 0 FRY 10129 broad.mit.edu 37 13 32811922 32811922 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:32811922C>T uc001utx.2 + 44 6713 c.6217C>T c.(6217-6219)CAT>TAT p.H2073Y FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2073 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) ACTACTGGCACATATGCCACT 0.517 NA 3 33 0 0 0.009096 0 0 TRPC4 7223 broad.mit.edu 37 13 38225534 38225534 + Missense_Mutation SNP T T G rs114508439 by1000genomes TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:38225534T>G uc001uws.2 - 8 2182 c.1947A>C c.(1945-1947)GAA>GAC p.E649D TRPC4_uc010abv.2_Missense_Mutation_p.E229D|TRPC4_uc001uwt.2_Missense_Mutation_p.E649D|TRPC4_uc010tey.1_Missense_Mutation_p.E649D|TRPC4_uc010abw.2_Missense_Mutation_p.E476D|TRPC4_uc010abx.2_Missense_Mutation_p.E649D|TRPC4_uc010aby.2_Intron NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 649 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GAGTACCTCCTTCTTCAAAAT 0.433 NA 22 34 0 0 0.001882 0 0 FREM2 341640 broad.mit.edu 37 13 39438599 39438599 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:39438599G>C uc001uwv.2 + 16 8148 c.7839G>C c.(7837-7839)CAG>CAC p.Q2613H FREM2_uc001uww.2_Missense_Mutation_p.Q699H NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 2613 Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATCCTTACCAGTACAGCTTGT 0.443 NA 45 52 0 0 0.00361 0 0 STOML3 161003 broad.mit.edu 37 13 39550731 39550731 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:39550731G>T uc001uwx.2 - 3 313 c.175C>A c.(175-177)CGT>AGT p.R59S STOML3_uc010tez.1_Missense_Mutation_p.R50S NM_145286 NP_660329 Q8TAV4 STML3_HUMAN stomatin-like 3 isoform 1 59 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(1) 1 Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743) all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137) ACAACAGCACGTTCATACTCC 0.483 NA 30 14 6.00712e-18 8.55917e-18 0.002445 1 0 C13orf23 80209 broad.mit.edu 37 13 39586281 39586281 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:39586281G>T uc001uwy.2 - 12 3524 c.2651C>A c.(2650-2652)TCA>TAA p.S884* C13orf23_uc001uwz.2_Nonsense_Mutation_p.S862* NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 884 ovary(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1) 5 Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114) all cancers(112;3.7e-08)|Epithelial(112;4.28e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00114)|BRCA - Breast invasive adenocarcinoma(63;0.00366)|GBM - Glioblastoma multiforme(144;0.0146) GGATGATTGTGAAGGATTCTG 0.453 NA 61 91 6.20203e-27 9.42191e-27 0.00361 1 0 PCDH17 27253 broad.mit.edu 37 13 58207235 58207235 + Silent SNP C C T rs139267359 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:58207235C>T uc001vhq.1 + 1 1447 c.555C>T c.(553-555)TCC>TCT p.S185S PCDH17_uc010aec.1_Silent_p.S185S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 185 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) ACGTTAAGTCCCGCGGCGACG 0.637 Melanoma(72;952 1291 1619 12849 33676) NA 4 12 0 0 0.001168 0 0 DACH1 1602 broad.mit.edu 37 13 72134027 72134027 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:72134027T>A uc010thn.1 - 6 1783 c.1360A>T c.(1360-1362)AGT>TGT p.S454C DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 506 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GATGGGTGACTGCCAGGCCTT 0.567 NA 9 14 0 0 0.008291 0 0 PIBF1 10464 broad.mit.edu 37 13 73468017 73468017 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:73468017T>G uc001vjc.2 + 11 1723 c.1418T>G c.(1417-1419)CTG>CGG p.L473R PIBF1_uc010aeo.1_RNA|PIBF1_uc001vjb.2_Missense_Mutation_p.L473R|PIBF1_uc010aep.2_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN progesterone-induced blocking factor 1 473 centrosome ovary(1)|breast(1) 2 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GTTCAACTTCTGCAAGAGGAA 0.333 NA 17 26 0 0 0.007413 0 0 DZIP1 22873 broad.mit.edu 37 13 96238287 96238287 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:96238287G>C uc001vmk.2 - 21 3174 c.2322C>G c.(2320-2322)ATC>ATG p.I774M DZIP1_uc001vmi.2_Missense_Mutation_p.I22M|DZIP1_uc001vmj.2_Missense_Mutation_p.I250M|DZIP1_uc001vml.2_Missense_Mutation_p.I755M|DZIP1_uc001vmm.2_5'Flank NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 774 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) CTTCTTTTTTGATAAACATCT 0.348 NA 11 43 0 0 0.000978 0 0 C13orf28 122258 broad.mit.edu 37 13 113088847 113088847 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:113088847G>T uc001vsd.1 + 7 603 c.572G>T c.(571-573)AGC>ATC p.S191I NM_145248 NP_660291 Q96KW9 SPAC7_HUMAN hypothetical protein LOC122258 precursor 191 extracellular region 0 all_lung(23;0.000633)|Lung NSC(43;0.0161)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0997)|Medulloblastoma(90;0.163) CAGAGGAGGAGCCAAGGCAGT 0.587 NA 7 11 0.000274275 0.000300085 0.004482 1 0 OR4N2 390429 broad.mit.edu 37 14 20296000 20296000 + Missense_Mutation SNP C C A rs2873667 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:20296000C>A uc010tkv.1 + 1 393 c.393C>A c.(391-393)CAC>CAA p.H131Q NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GGCCTCTGCACTATCCTACTG 0.522 NA 86 336 5.52034e-35 8.6734e-35 0.00361 1 0 OR4K5 79317 broad.mit.edu 37 14 20389640 20389640 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:20389640G>C uc010tkw.1 + 1 875 c.875G>C c.(874-876)AGG>ACG p.R292T NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 292 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTAAGGAATAGGGATATGAAG 0.403 NA 6 183 0 0 0.001984 0 0 OR10G2 26534 broad.mit.edu 37 14 22102704 22102704 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:22102704A>T uc010tmc.1 - 1 295 c.295T>A c.(295-297)TTT>ATT p.F99I NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) CAGCCACCAAACGGGATAGCC 0.498 NA 7 36 0 0 0.00308 0 0 MYH7 4625 broad.mit.edu 37 14 23884905 23884905 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:23884905C>G uc001wjx.2 - 35 5196 c.5090G>C c.(5089-5091)CGG>CCG p.R1697P NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1697 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTCCGGGACCGCTCTGTCTG 0.622 NA 13 51 0 0 0.001855 0 0 MYH7 4625 broad.mit.edu 37 14 23894191 23894191 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:23894191C>A uc001wjx.2 - 22 2572 c.2466G>T c.(2464-2466)ATG>ATT p.M822I NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 822 M -> L (in CMH1).|M -> T (in CMH1). adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCTTGACCCCCATGAAGGCCC 0.552 NA 26 72 3.01185e-09 3.73589e-09 0.003954 1 0 NOVA1 4857 broad.mit.edu 37 14 26918112 26918112 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:26918112T>A uc001wpy.2 - 5 895 c.577A>T c.(577-579)ACT>TCT p.T193S NOVA1_uc001wpz.2_Missense_Mutation_p.T169S|NOVA1_uc001wqa.2_Missense_Mutation_p.T71S NM_002515 NP_002506 P51513 NOVA1_HUMAN neuro-oncological ventral antigen 1 isoform 1 196 KH 2. locomotory behavior|RNA splicing|synaptic transmission nucleus RNA binding skin(2)|upper_aerodigestive_tract(1)|breast(1)|liver(1) 5 GBM - Glioblastoma multiforme(265;0.0135) GCCTTCACAGTAGCACCTCCC 0.433 NA 39 146 0 0 0.00623 0 0 ARHGAP5 394 broad.mit.edu 37 14 32562038 32562039 + Missense_Mutation DNP GG GG TT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:32562038_32562039GG>TT uc001wrl.2 + 2 2402_2403 c.2163_2164GG>TT c.(2161-2166)TTGGCA>TTTTCA p.721_722LA>FS ARHGAP5_uc001wrm.2_Missense_Mutation_p.721_722LA>FS|ARHGAP5_uc001wrn.2_Missense_Mutation_p.721_722LA>FS|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 721_722 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) GGCAGCAGTTGGCAAACAAGTT 0.381 NSCLC(9;77 350 3443 29227 41353) NA 16 49 0 0 0.004672 0 0 EAPP 55837 broad.mit.edu 37 14 34998672 34998672 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:34998672G>A uc001wsd.1 - 4 471 c.362C>T c.(361-363)ACC>ATC p.T121I NM_018453 NP_060923 Q56P03 EAPP_HUMAN E2F-associated phosphoprotein 121 negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter Golgi apparatus|nucleus|plasma membrane ovary(1) 1 Breast(36;0.0473)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18) GBM - Glioblastoma multiforme(112;0.0196) TTTTTTCTTGGTCACCTGTAC 0.353 NA 10 38 0 0 0.008291 0 0 PSMA6 5687 broad.mit.edu 37 14 35777229 35777229 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:35777229G>A uc001wtd.2 + 2 215 c.106G>A c.(106-108)GGC>AGC p.G36S KIAA0391_uc001wta.2_RNA|PSMA6_uc010tpt.1_Intron|PSMA6_uc010tpu.1_5'UTR NM_002791 NP_002782 P60900 PSA6_HUMAN proteasome alpha 6 subunit 36 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 NF-kappaB transcription factor activity|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|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity 0 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) TAACCAGGGTGGCCTTACATC 0.348 NA 24 45 0 0 0.003954 0 0 FSCB 84075 broad.mit.edu 37 14 44974165 44974165 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:44974165C>T uc001wvn.2 - 1 2335 c.2026G>A c.(2026-2028)GAG>AAG p.E676K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 676 Ala-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGGGCCTCCTCAGCTGGTGGA 0.612 NA 14 21 0 0 0.00245 0 0 FANCM 57697 broad.mit.edu 37 14 45668130 45668130 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:45668130G>C uc001wwd.3 + 22 6099 c.6000G>C c.(5998-6000)ATG>ATC p.M2000I FANCM_uc010anf.2_Missense_Mutation_p.M1974I|FANCM_uc001wwe.3_Missense_Mutation_p.M1536I|FANCM_uc010ang.2_Missense_Mutation_p.M1249I NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 2000 Interaction with FAAP24 and EME1. DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TGAAAAGGATGGCTAACAGGT 0.284 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 4 45 0 0 0.009096 0 0 PELI2 57161 broad.mit.edu 37 14 56755250 56755250 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:56755250C>T uc001xch.2 + 4 691 c.405C>T c.(403-405)ACC>ACT p.T135T NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 135 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 CACAGAGCACCATATCCAGGT 0.507 NA 11 27 0 0 0.000978 0 0 FUT8 2530 broad.mit.edu 37 14 66082969 66082969 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:66082969A>C uc001xin.2 + 5 1557 c.360A>C c.(358-360)GAA>GAC p.E120D FUT8_uc001xio.2_Missense_Mutation_p.E120D|FUT8_uc010tsp.1_5'UTR|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.E120D|FUT8_uc001xiq.2_5'UTR NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 120 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) GGAGGATTGAAAATGGAGCTA 0.363 NA 12 61 0 0 0.001368 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68217815 68217815 + Splice_Site SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:68217815T>A uc001xka.2 - 41 7511 c.7372_splice c.e41-1 p.E2458_splice ZFYVE26_uc010tsz.1_Splice_Site|ZFYVE26_uc001xkb.2_Intron NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) CTCCAGCTCCTGTGCAGAACA 0.542 NA 7 52 0 0 0.001984 0 0 FLRT2 23768 broad.mit.edu 37 14 86089577 86089577 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:86089577C>A uc001xvr.2 + 2 2486 c.1719C>A c.(1717-1719)ACC>ACA p.T573T FLRT2_uc010atd.2_Silent_p.T573T NM_013231 NP_037363 O43155 FLRT2_HUMAN fibronectin leucine rich transmembrane protein 2 573 Cytoplasmic (Potential). cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity ovary(3)|haematopoietic_and_lymphoid_tissue(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.0319) GGCGCTACACCTCCCAGAAGT 0.547 NA 44 72 2.37825e-27 3.62558e-27 0.002522 1 0 SERPINA9 327657 broad.mit.edu 37 14 94935730 94935730 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:94935730C>A uc001ydf.2 - 2 663 c.502G>T c.(502-504)GGC>TGC p.G168C SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Missense_Mutation_p.G19C|SERPINA9_uc001ydg.2_Missense_Mutation_p.G132C|SERPINA9_uc001ydh.1_Missense_Mutation_p.G168C|SERPINA9_uc001ydi.1_Missense_Mutation_p.G132C NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 150 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) TTGACATTGCCCAAGAAATTT 0.498 NA 56 74 8.28887e-21 1.21682e-20 0.00361 1 0 DYNC1H1 1778 broad.mit.edu 37 14 102472468 102472468 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:102472468A>T uc001yks.2 + 27 5841 c.5677A>T c.(5677-5679)ACA>TCA p.T1893S NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 1893 AAA 1 (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 TTTGACAATGACACAAGCCTT 0.453 NA 41 42 0 0 0.003214 0 0 RCOR1 23186 broad.mit.edu 37 14 103187709 103187709 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:103187709T>G uc001ymb.2 + 10 1175 c.1175T>G c.(1174-1176)GTA>GGA p.V392G NM_015156 NP_055971 Q9UKL0 RCOR1_HUMAN REST corepressor 1 392 SANT 2. blood coagulation|histone H4 deacetylation|interspecies interaction between organisms transcriptional repressor complex protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding ovary(1) 1 CTTCTCGCCGTACAAGGTAGG 0.284 NA 11 13 0 0 0.000978 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103442278 103442278 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:103442278G>A uc001ymi.1 - 10 1561 c.1329C>T c.(1327-1329)TAC>TAT p.Y443Y NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 443 Potential. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TCCTCCTCTCGTAAGCTTCCA 0.607 NA 5 82 0 0 0.000602 0 0 AHNAK2 113146 broad.mit.edu 37 14 105405700 105405700 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:105405700T>C uc010axc.1 - 7 16208 c.16088A>G c.(16087-16089)GAT>GGT p.D5363G AHNAK2_uc001ypx.2_Missense_Mutation_p.D5263G NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5363 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GGATGGCATATCAGTACTTGA 0.438 NA 20 31 0 0 0.008871 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418921 105418921 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr14:105418921T>A uc010axc.1 - 7 2987 c.2867A>T c.(2866-2868)GAT>GTT p.D956V AHNAK2_uc001ypx.2_Missense_Mutation_p.D856V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 956 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CACCTCGCCATCGGGGGCTGT 0.622 NA 119 161 0 0 0.00361 0 0 GOLGA8C 729786 broad.mit.edu 37 15 20777882 20777882 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:20777882C>T uc010tzc.1 + 18 2138 c.1123C>T c.(1123-1125)CTT>TTT p.L375F uc001ytq.2_5'Flank NM_001012423 NP_001012423 golgi autoantigen, golgin subfamily a, 8E skin(1) 1 CTCCAAAGATCTTTGTGAGGT 0.617 NA 7 132 0 0 0.004482 0 0 OR4M2 390538 broad.mit.edu 37 15 22368867 22368867 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:22368867A>T uc010tzu.1 + 1 292 c.292A>T c.(292-294)ATT>TTT p.I98F LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGATGGATGCATTGCACAGCT 0.458 NA 56 807 0 0 0.00361 0 0 OR4N3P 390539 broad.mit.edu 37 15 22413947 22413947 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:22413947C>A uc001yuf.2 + 1 246 c.246C>A c.(244-246)CTC>CTA p.L82L NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 AGGTGGTCCTCATCATCCGCT 0.507 NA 15 442 3.41278e-10 4.3255e-10 0.00499 1 0 MKRN3 7681 broad.mit.edu 37 15 23812450 23812450 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:23812450G>T uc001ywh.3 + 1 1997 c.1521G>T c.(1519-1521)CTG>CTT p.L507L MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Intron NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 507 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) ATTTGATTCTGTAGCATCGTG 0.458 NA 33 81 5.8336e-16 8.1783e-16 0.003271 1 0 RYR3 6263 broad.mit.edu 37 15 34023715 34023715 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:34023715G>T uc001zhi.2 + 48 7314 c.7244G>T c.(7243-7245)AGG>ATG p.R2415M RYR3_uc010bar.2_Missense_Mutation_p.R2415M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2415 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) GCACTAAATAGGTATATATGT 0.502 NA 4 12 0.00024832 0.000272714 0.009096 1 0 GPR176 11245 broad.mit.edu 37 15 40093898 40093898 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:40093898C>A uc001zkj.1 - 3 1849 c.983G>T c.(982-984)CGC>CTC p.R328L GPR176_uc010uck.1_Missense_Mutation_p.R268L NM_007223 NP_009154 Q14439 GP176_HUMAN G protein-coupled receptor 176 328 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123) CAAGCACTTGCGGACAGATTT 0.552 NA OREG0023053 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 29 9.05144e-12 1.18157e-11 0.001855 1 0 MGA 23269 broad.mit.edu 37 15 41988781 41988781 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:41988781G>T uc001zog.1 + 3 1664 c.1573G>T c.(1573-1575)GAA>TAA p.E525* MGA_uc010ucy.1_Nonsense_Mutation_p.E525*|MGA_uc010ucz.1_Nonsense_Mutation_p.E525* NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 525 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CTTAGGCAAGGAATCAGAAAA 0.373 NA 9 29 0.00448238 0.00479 0.004482 1 0 FRMD5 84978 broad.mit.edu 37 15 44198064 44198064 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:44198064C>T uc001ztl.2 - 6 690 c.513G>A c.(511-513)CTG>CTA p.L171L FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Silent_p.L82L|FRMD5_uc001ztm.2_5'UTR|FRMD5_uc001ztn.2_5'UTR NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN FERM domain containing 5 isoform 2 171 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TTTTCCTTTCCAGCTTCTCTG 0.488 NA 21 50 0 0 0.00278 0 0 CEP152 22995 broad.mit.edu 37 15 49085535 49085535 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:49085535T>C uc001zwy.2 - 7 849 c.815A>G c.(814-816)CAG>CGG p.Q272R CEP152_uc001zwz.2_Missense_Mutation_p.Q272R|CEP152_uc001zxa.1_Missense_Mutation_p.Q179R NM_014985 NP_055800 O94986 CE152_HUMAN centrosomal protein 152kDa 272 Potential. centrosome duplication|G2/M transition of mitotic cell cycle centrosome|cytosol protein kinase binding lung(2) 2 all_lung(180;0.0428) all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06) TATTACAAGCTGGTGATTCAG 0.234 NA 9 35 0 0 0.008291 0 0 RFX7 64864 broad.mit.edu 37 15 56390279 56390279 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:56390279C>A uc010bfn.2 - 8 1107 c.1107G>T c.(1105-1107)CCG>CCT p.P369P RFX7_uc010ugk.1_RNA|RFX7_uc002adn.1_Silent_p.P183P NM_022841 NP_073752 Q2KHR2 RFX7_HUMAN regulatory factor X domain containing 2 272 regulation of transcription, DNA-dependent nucleus DNA binding 0 ATTATATTACCGGAATGGGAC 0.403 NA 8 29 2.17888e-05 2.45476e-05 0.006214 1 0 ZWILCH 55055 broad.mit.edu 37 15 66832443 66832443 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:66832443C>T uc002aqb.2 + 17 1828 c.1582C>T c.(1582-1584)CCA>TCA p.P528S ZWILCH_uc010bhu.1_Missense_Mutation_p.P414S|ZWILCH_uc002aqa.2_Missense_Mutation_p.P414S|ZWILCH_uc010bhv.2_Missense_Mutation_p.P414S NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Zwilch 528 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding ovary(1) 1 TAGTGAGAAGCCACAGAAATG 0.284 NA 8 22 0 0 0.00308 0 0 SMAD3 4088 broad.mit.edu 37 15 67473647 67473647 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:67473647C>T uc002aqj.2 + 6 1025 c.727C>T c.(727-729)CGC>TGC p.R243C SMAD3_uc010ujr.1_Missense_Mutation_p.R138C|SMAD3_uc010ujs.1_Missense_Mutation_p.R199C|SMAD3_uc010ujt.1_Missense_Mutation_p.R48C NM_005902 NP_005893 P84022 SMAD3_HUMAN mothers against decapentaplegic homolog 3 243 MH2. activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing cytosol|nuclear inner membrane|receptor complex beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding large_intestine(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125) GCTGAACCAGCGCGTCGGGGA 0.607 NA 4 20 0 0 0.009096 0 0 TLE3 7090 broad.mit.edu 37 15 70345643 70345643 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:70345643C>A uc002asm.2 - 17 3025 c.1906G>T c.(1906-1908)GGG>TGG p.G636W TLE3_uc002ask.2_Missense_Mutation_p.G563W|TLE3_uc002asl.2_Missense_Mutation_p.G636W|TLE3_uc010ukd.1_Missense_Mutation_p.G626W|TLE3_uc010bik.1_Missense_Mutation_p.G217W|TLE3_uc010bil.1_Missense_Mutation_p.G633W|TLE3_uc002asn.2_Missense_Mutation_p.G624W|TLE3_uc002asp.2_Missense_Mutation_p.G628W|TLE3_uc002aso.2_Missense_Mutation_p.G631W NM_005078 NP_005069 Q04726 TLE3_HUMAN transducin-like enhancer protein 3 isoform a 636 WD 4. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|protein binding lung(2) 2 TCCAGGCCCCCTGTCCACAGT 0.627 NA 4 8 0.00909568 0.00956747 0.009096 1 0 UACA 55075 broad.mit.edu 37 15 70961608 70961608 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:70961608G>A uc002asr.2 - 16 1519 c.1415C>T c.(1414-1416)GCA>GTA p.A472V UACA_uc010uke.1_Missense_Mutation_p.A363V|UACA_uc002asq.2_Missense_Mutation_p.A459V|UACA_uc010bin.1_Missense_Mutation_p.A447V NM_018003 NP_060473 Q9BZF9 UACA_HUMAN uveal autoantigen with coiled-coil domains and 472 Potential. cytoskeleton|extracellular region ovary(2)|pancreas(1)|skin(1) 4 TTTGCATTCTGCCACTTTGTG 0.383 NA 70 115 0 0 0.00361 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76168613 76168613 + Splice_Site SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:76168613G>A uc002bbg.2 + 6 1059 c.673_splice c.e6+1 p.G225_splice UBE2Q2_uc002bbh.2_Splice_Site_p.G190_splice|UBE2Q2_uc010umn.1_Splice_Site_p.G209_splice|UBE2Q2_uc002bbi.2_Splice_Site_p.G106_splice NM_173469 NP_775740 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q 2 isoform 1 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity ovary(2) 2 TATAAAACAGGTAAGGATCTC 0.388 NA 70 116 0 0 0.00361 0 0 LOC645752 645752 broad.mit.edu 37 15 78211609 78211609 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:78211609T>C uc010bky.2 - 11 922 c.158A>G c.(157-159)CAG>CGG p.Q53R NR_027024 SubName: Full=GOLGA6 protein; Flags: Fragment; 0 ATCTTGTAGCTGTTCCACCAC 0.567 NA 13 132 0 0 0.001855 0 0 CHRNB4 1143 broad.mit.edu 37 15 78922232 78922232 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:78922232C>T uc002bed.1 - 5 527 c.415G>A c.(415-417)GGC>AGC p.G139S CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 139 Extracellular (Potential). regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 AGGACGCTGCCGTTGGACCGG 0.572 NA 3 51 0 0 0.004672 0 0 AP3B2 8120 broad.mit.edu 37 15 83349905 83349905 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:83349905G>C uc010uoh.1 - 6 724 c.547C>G c.(547-549)CTG>GTG p.L183V AP3B2_uc010uoi.1_Missense_Mutation_p.L183V|AP3B2_uc010uoj.1_Missense_Mutation_p.L151V|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 183 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) ACTTCTATCAGCTGATCCTTC 0.572 NA 4 17 0 0 0.009096 0 0 NTRK3 4916 broad.mit.edu 37 15 88576157 88576157 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:88576157T>C uc002bme.1 - 13 1678 c.1516A>G c.(1516-1518)ACT>GCT p.T506A NTRK3_uc002bmh.2_Missense_Mutation_p.T498A|NTRK3_uc002bmf.1_Missense_Mutation_p.T506A|NTRK3_uc010upl.1_Missense_Mutation_p.T408A|NTRK3_uc010bnh.1_Missense_Mutation_p.T498A|NTRK3_uc002bmg.2_Missense_Mutation_p.T506A|NTRK3_uc010bni.2_RNA NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 506 Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) GGGATGCGAGTCATGCCAATG 0.592 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 4 27 0 0 0.009096 0 0 ACAN 176 broad.mit.edu 37 15 89414627 89414627 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:89414627G>A uc010upo.1 + 14 7335 c.6961G>A c.(6961-6963)GAG>AAG p.E2321K ACAN_uc010upp.1_Missense_Mutation_p.E2283K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2321 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GGAGGTATGTGAGGAGGGCTG 0.622 NA 8 31 0 0 0.00308 0 0 POLG 5428 broad.mit.edu 37 15 89865046 89865046 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:89865046A>G uc002bns.3 - 16 2801 c.2519T>C c.(2518-2520)ATC>ACC p.I840T POLG_uc002bnr.3_Missense_Mutation_p.I840T NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 840 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TTGGGGCAGGATGGCCCCATA 0.617 Colon(73;648 1203 11348 18386 27782) NA DNA_polymerases_(catalytic_subunits) 11 54 0 0 0.000978 0 0 SYNM 23336 broad.mit.edu 37 15 99672530 99672530 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:99672530A>T uc002bup.2 + 6 4085 c.3965A>T c.(3964-3966)CAG>CTG p.Q1322L SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1322 Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL. 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 CAGACCACCCAGCAGATAGTT 0.562 Pancreas(125;1071 1762 21750 40003 40381) NA 26 107 0 0 0.004656 0 0 LYSMD4 145748 broad.mit.edu 37 15 100269825 100269825 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr15:100269825C>T uc002bvk.2 - 3 457 c.394G>A c.(394-396)GAA>AAA p.E132K LYSMD4_uc002bvj.1_Intron|LYSMD4_uc010bou.1_Intron|LYSMD4_uc002bvl.2_Missense_Mutation_p.E133K|LYSMD4_uc002bvm.2_3'UTR|LYSMD4_uc010bov.2_Missense_Mutation_p.E132K Q5XG99 LYSM4_HUMAN SubName: Full=cDNA FLJ77040, highly similar to Homo sapiens LysM, putative peptidoglycan-binding, domain containing 4, mRNA; SubName: Full=LysM, putative peptidoglycan-binding, domain containing 4, isoform CRA_c; 132 Extracellular (Potential). cell wall macromolecule catabolic process integral to membrane 0 Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163) OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208) GGTTTCAGTTCTTTGTGGGTC 0.522 NA 17 100 0 0 0.007413 0 0 EME2 197342 broad.mit.edu 37 16 1825092 1825092 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:1825092C>T uc002cmq.1 + 4 528 c.528C>T c.(526-528)GCC>GCT p.A176A MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Silent_p.A176A NM_001010865 NP_001010865 A4GXA9 EME2_HUMAN essential meiotic endonuclease 1 homolog 2 176 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity lung(1)|central_nervous_system(1)|pancreas(1) 3 AGACCACCGCCCGGCCCCACC 0.647 NA Direct_reversal_of_damage|Homologous_recombination 15 136 0 0 0.004007 0 0 CLDN9 9080 broad.mit.edu 37 16 3063924 3063924 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:3063924G>A uc010uwo.1 + 1 1468 c.561G>A c.(559-561)CCG>CCA p.P187P NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 187 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CGTGCCCCCCGCCCCAGGTCG 0.721 NA 45 41 0 0 0.00361 0 0 TIGD7 91151 broad.mit.edu 37 16 3349677 3349677 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:3349677C>T uc002cus.2 - 1 1724 c.938G>A c.(937-939)CGA>CAA p.R313Q ZNF263_uc002cur.2_3'UTR NM_033208 NP_149985 Q6NT04 TIGD7_HUMAN tigger transposable element derived 7 313 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding 0 ACATTTTATTCGACCATCCTC 0.338 NA 9 66 0 0 0.004482 0 0 TFAP4 7023 broad.mit.edu 37 16 4310143 4310143 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:4310143G>T uc010uxg.1 - 6 1024 c.770C>A c.(769-771)TCG>TAG p.S257* NM_003223 NP_003214 Q01664 TFAP4_HUMAN transcription factor AP-4 (activating enhancer 257 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle transcriptional repressor complex E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GTTGATGACCGAGGAGGGGCC 0.627 NA 83 67 3.7744e-50 6.07246e-50 0.00361 1 0 GRIN2A 2903 broad.mit.edu 37 16 9858360 9858360 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:9858360C>A uc002czo.3 - 13 3589 c.3041G>T c.(3040-3042)TGG>TTG p.W1014L GRIN2A_uc010uym.1_Missense_Mutation_p.W1014L|GRIN2A_uc010uyn.1_Missense_Mutation_p.W857L|GRIN2A_uc002czr.3_Missense_Mutation_p.W1014L NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 1014 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGATTTCTTCCACAGCTGCCG 0.532 NA 5 115 1.024e-07 1.22655e-07 0.000602 1 0 ZP2 7783 broad.mit.edu 37 16 21215360 21215360 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:21215360G>C uc002dii.2 - 9 963 c.963C>G c.(961-963)CTC>CTG p.L321L ZP2_uc010bwn.1_Silent_p.L360L|ZP2_uc010bwo.2_Silent_p.L360L NM_003460 NP_003451 Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 preproprotein 321 Extracellular (Potential). binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(48;0.0573) CTTTCGTTTTGAGCAGAGTTT 0.433 NA 3 50 0 0 0.004672 0 0 AHSP 51327 broad.mit.edu 37 16 31539839 31539839 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:31539839A>G uc002ecj.2 + 3 221 c.136A>G c.(136-138)AAC>GAC p.N46D NM_016633 NP_057717 Q9NZD4 AHSP_HUMAN erythroid associated factor 46 hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization hemoglobin complex hemoglobin binding|unfolded protein binding 0 GGACTGGATGAACTTCTACAT 0.547 NA 18 55 0 0 0.007413 0 0 SLC12A3 6559 broad.mit.edu 37 16 56904030 56904030 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:56904030C>T uc010ccm.2 + 5 653 c.624C>T c.(622-624)TCC>TCT p.S208S SLC12A3_uc002ekd.3_Silent_p.S208S|SLC12A3_uc010ccn.2_Silent_p.S207S NM_001126108 NP_001119580 P55017 S12A3_HUMAN solute carrier family 12, member 3 isoform 3 208 Cytoplasmic (Potential). sodium ion transmembrane transport apical plasma membrane|integral to plasma membrane|membrane fraction sodium:chloride symporter activity ovary(2)|breast(1) 3 Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325) TCCTCATCTCCCGGAGTCTGG 0.627 NA 5 89 0 0 0.001168 0 0 KIFC3 3801 broad.mit.edu 37 16 57804605 57804605 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:57804605A>C uc002emp.2 - 7 970 c.773T>G c.(772-774)ATC>AGC p.I258S KIFC3_uc010vhw.1_Missense_Mutation_p.I156S|KIFC3_uc002emn.2_RNA|KIFC3_uc002emm.2_Missense_Mutation_p.I119S|KIFC3_uc010vhx.1_Missense_Mutation_p.I119S|KIFC3_uc010cdf.2_Missense_Mutation_p.I119S|KIFC3_uc002emo.3_Missense_Mutation_p.I119S|KIFC3_uc010vhy.1_Missense_Mutation_p.I200S|KIFC3_uc002emq.2_Missense_Mutation_p.I258S|KIFC3_uc010vhz.1_Missense_Mutation_p.I280S|KIFC3_uc002emr.1_Intron NM_005550 NP_005541 Q9BVG8 KIFC3_HUMAN kinesin family member C3 isoform 1 258 Potential. epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens ATP binding|microtubule motor activity central_nervous_system(2)|ovary(1) 3 all_neural(199;0.224) CACTGTCTTGATGACATACTG 0.632 NA 2 5 0 0 0.004672 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77393252 77393252 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:77393252C>A uc002ffc.3 - 8 1704 c.1285G>T c.(1285-1287)GGC>TGC p.G429C ADAMTS18_uc010chc.1_Missense_Mutation_p.G17C|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G125C|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 429 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AAGGCAAGGCCAAGTCCTGTG 0.453 NA 15 14 1.02788e-11 1.33778e-11 0.00499 1 0 FBXO31 79791 broad.mit.edu 37 16 87377299 87377299 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:87377299A>G uc002fjw.2 - 4 606 c.562T>C c.(562-564)TTC>CTC p.F188L FBXO31_uc010vot.1_Missense_Mutation_p.F16L|FBXO31_uc002fjv.2_Missense_Mutation_p.F80L NM_024735 NP_079011 Q5XUX0 FBX31_HUMAN F-box protein 31 188 cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process SCF ubiquitin ligase complex cyclin binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0272) AGAGGCTTGAATCTCATAGGG 0.587 NA 3 24 0 0 0.004672 0 0 CDH15 1013 broad.mit.edu 37 16 89245971 89245971 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:89245971C>A uc002fmt.2 + 2 267 c.190C>A c.(190-192)CCC>ACC p.P64T CDH15_uc010cij.1_Missense_Mutation_p.P64T NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 64 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) TCTCCCCTACCCCCTGGTTCA 0.677 NA 27 73 1.04121e-07 1.24546e-07 0.005443 1 0 DPEP1 1800 broad.mit.edu 37 16 89703053 89703053 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:89703053G>T uc010cin.2 + 5 686 c.483G>T c.(481-483)ATG>ATT p.M161I DPEP1_uc002fnr.3_Missense_Mutation_p.M161I|DPEP1_uc002fns.3_Missense_Mutation_p.M161I NM_001128141 NP_001121613 P16444 DPEP1_HUMAN dipeptidase 1 precursor 161 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(1) 1 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) AGCTGGGCATGCGGTACCTGA 0.677 NA 9 44 2.52707e-12 3.32369e-12 0.006214 1 0 GSG2 83903 broad.mit.edu 37 17 3629369 3629369 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:3629369G>C uc002fwp.2 + 1 2173 c.2140G>C c.(2140-2142)GAC>CAC p.D714H ITGAE_uc002fwo.3_Intron|ITGAE_uc002fwn.3_5'Flank NM_031965 NP_114171 Q8TF76 HASP_HUMAN haspin 714 Protein kinase. cell cycle|chromatin modification|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity 0 GTTTACCGGTGACGGTGACTA 0.473 NA 8 71 0 0 0.00308 0 0 ZFP3 124961 broad.mit.edu 37 17 4996298 4996298 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:4996298G>C uc002gaq.2 + 2 1624 c.1499G>C c.(1498-1500)TGT>TCT p.C500S NM_153018 NP_694563 Q96NJ6 ZFP3_HUMAN zinc finger protein-3 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTGTTCACTGTATGGAGTAA 0.393 NA 6 53 0 0 0.001168 0 0 PFAS 5198 broad.mit.edu 37 17 8169551 8169551 + Splice_Site SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:8169551G>T uc002gkr.2 + 22 2843 c.2702_splice c.e22-1 p.D901_splice PFAS_uc010vuv.1_Splice_Site_p.D477_splice|PFAS_uc002gks.2_Splice_Site NM_012393 NP_036525 O15067 PUR4_HUMAN phosphoribosylformylglycinamidine synthase 'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process cytosol ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding ovary(2)|central_nervous_system(2)|pancreas(1) 5 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) CCTTCCTCCAGACCGCCTCCT 0.582 NA 18 24 8.28177e-16 1.15732e-15 0.007413 1 0 MYH13 8735 broad.mit.edu 37 17 10231408 10231408 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:10231408G>A uc002gmk.1 - 22 2556 c.2466C>T c.(2464-2466)ATC>ATT p.I822I NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 822 muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TAAAAGAGCGGATGTTGTACT 0.512 NA OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 20 0 0 0.002445 0 0 MYH1 4619 broad.mit.edu 37 17 10419268 10419268 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:10419268G>T uc002gmo.2 - 5 574 c.480C>A c.(478-480)GAC>GAA p.D160E uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 160 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GATAGGCATTGTCAGAGATGG 0.423 NA 100 118 1.66795e-42 2.64927e-42 0.00361 1 0 MYH2 4620 broad.mit.edu 37 17 10427854 10427854 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:10427854C>G uc010coi.2 - 35 5232 c.5104G>C c.(5104-5106)GAG>CAG p.E1702Q uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1702Q|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1702 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTGCTCCTCTCTGTCTGTTCC 0.577 NA 35 55 0 0 0.003755 0 0 DNAH9 1770 broad.mit.edu 37 17 11522884 11522884 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:11522884C>A uc002gne.2 + 6 1204 c.1136C>A c.(1135-1137)CCA>CAA p.P379Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 379 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TATCTCAGCCCAGAAGACCTG 0.438 NA 53 57 1.11015e-26 1.68357e-26 0.00361 1 0 DNAH9 1770 broad.mit.edu 37 17 11778317 11778317 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:11778317G>A uc002gne.2 + 53 10362 c.10294G>A c.(10294-10296)GAT>AAT p.D3432N DNAH9_uc010coo.2_Missense_Mutation_p.D2726N NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3432 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCTGATGGATGATGCTGACGT 0.582 NA 36 56 0 0 0.003755 0 0 MYOCD 93649 broad.mit.edu 37 17 12666801 12666801 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:12666801C>T uc002gnn.2 + 13 2956 c.2657C>T c.(2656-2658)CCC>CTC p.P886L MYOCD_uc002gno.2_Missense_Mutation_p.P934L|MYOCD_uc002gnq.2_Missense_Mutation_p.P610L NM_153604 NP_705832 Q8IZQ8 MYCD_HUMAN myocardin isoform 2 886 cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation nucleus nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding central_nervous_system(2)|skin(2)|ovary(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.0969) ACTGAATCTCCCTGGGAAACC 0.547 NA 26 27 0 0 0.003954 0 0 NCOR1 9611 broad.mit.edu 37 17 16049783 16049783 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:16049783C>A uc002gpo.2 - 10 1229 c.989G>T c.(988-990)CGG>CTG p.R330L NCOR1_uc002gpn.2_Missense_Mutation_p.R330L|NCOR1_uc002gpp.1_Missense_Mutation_p.R221L|NCOR1_uc002gpr.2_Missense_Mutation_p.R221L|NCOR1_uc002gps.1_Missense_Mutation_p.R339L|NCOR1_uc010coz.1_Missense_Mutation_p.R146L|NCOR1_uc010cpb.1_Missense_Mutation_p.R339L|NCOR1_uc010cpa.1_Missense_Mutation_p.R330L NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 330 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AGCTTTCCTCCGAGGATTATT 0.378 NA 29 42 1.5548e-18 2.23358e-18 0.005443 1 0 TOM1L2 146691 broad.mit.edu 37 17 17754212 17754212 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:17754212C>A uc002grz.3 - 13 1490 c.1333G>T c.(1333-1335)GAC>TAC p.D445Y TOM1L2_uc002gry.3_Missense_Mutation_p.D395Y|TOM1L2_uc010vwy.1_Missense_Mutation_p.D421Y|TOM1L2_uc010cpr.2_Missense_Mutation_p.D400Y|TOM1L2_uc010vwz.1_Missense_Mutation_p.D326Y|TOM1L2_uc010vxa.1_Intron|TOM1L2_uc002grv.3_Missense_Mutation_p.D178Y NM_001082968 NP_001076437 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 isoform 3 445 intracellular protein transport intracellular 0 all_neural(463;0.228) CTCACCAGGTCGGTCCTGAGC 0.622 Melanoma(192;2505 2909 14455 25269) NA 26 33 5.61819e-17 7.95302e-17 0.005443 1 0 KIAA0100 9703 broad.mit.edu 37 17 26964910 26964910 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:26964910C>A uc002hbu.2 - 14 1814 c.1715G>T c.(1714-1716)TGG>TTG p.W572L NM_014680 NP_055495 Q14667 K0100_HUMAN hypothetical protein LOC9703 precursor 572 extracellular region ovary(2)|breast(1)|skin(1) 4 Lung NSC(42;0.00431) GTCCACCTTCCACAGTAATGA 0.443 NA 10 63 7.03913e-09 8.65743e-09 0.001368 1 0 NF1 4763 broad.mit.edu 37 17 29527486 29527486 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:29527486G>C uc002hgg.2 + 9 1268 c.935G>C c.(934-936)GGA>GCA p.G312A NF1_uc002hge.1_Missense_Mutation_p.G312A|NF1_uc002hgf.1_Missense_Mutation_p.G312A|NF1_uc002hgh.2_Missense_Mutation_p.G312A|NF1_uc010csn.1_Missense_Mutation_p.G172A NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 312 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GGCCATGGAGGAAGTAGGCAG 0.383 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 20 38 0 0 0.002299 0 0 AMAC1 146861 broad.mit.edu 37 17 33520748 33520748 + Nonsense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:33520748A>T uc002hjd.2 - 1 665 c.579T>A c.(577-579)TAT>TAA p.Y193* NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 193 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) AAGCCTCCACATAGCCCAGGG 0.592 NA 73 107 0 0 0.00361 0 0 SLFN13 146857 broad.mit.edu 37 17 33768061 33768061 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:33768061T>C uc002hjk.1 - 4 2577 c.2247A>G c.(2245-2247)ATA>ATG p.I749M SLFN13_uc010wch.1_Missense_Mutation_p.I749M|SLFN13_uc002hjl.2_Missense_Mutation_p.I749M|SLFN13_uc010ctt.2_Missense_Mutation_p.I431M|SLFN13_uc002hjm.2_Missense_Mutation_p.I418M NM_144682 NP_653283 Q68D06 SLN13_HUMAN schlafen family member 13 749 intracellular ATP binding ovary(1)|breast(1) 2 UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) GAGGATTTTCTATAATTAGTT 0.413 NA 40 143 0 0 0.005524 0 0 CACNB1 782 broad.mit.edu 37 17 37347809 37347809 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:37347809G>C uc002hrm.1 - 3 362 c.209C>G c.(208-210)TCT>TGT p.S70C CACNB1_uc002hrl.1_5'UTR|CACNB1_uc002hrn.2_Missense_Mutation_p.S70C|CACNB1_uc002hro.2_Missense_Mutation_p.S70C|CACNB1_uc002hrp.1_Missense_Mutation_p.S70C|CACNB1_uc010web.1_Missense_Mutation_p.S23C NM_000723 NP_000714 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 70 axon guidance voltage-gated calcium channel complex large_intestine(1)|ovary(1) 2 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) AGATACATCAGAGTCTGATGG 0.587 Esophageal Squamous(5;100 366 38393 41452 45827) NA 5 56 0 0 0.000602 0 0 KRT26 353288 broad.mit.edu 37 17 38925158 38925158 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:38925158T>A uc002hvf.2 - 6 1206 c.1160A>T c.(1159-1161)TAT>TTT p.Y387F NM_181539 NP_853517 Q7Z3Y9 K1C26_HUMAN keratin 26 387 Rod.|Coil 2. intermediate filament structural molecule activity 0 Breast(137;0.00526) TAAGTTGCAATAAATGTCAAT 0.328 NA 15 24 0 0 0.00245 0 0 KRT28 162605 broad.mit.edu 37 17 38948732 38948732 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:38948732C>G uc002hvh.1 - 8 1408 c.1342G>C c.(1342-1344)GAA>CAA p.E448Q NM_181535 NP_853513 Q7Z3Y7 K1C28_HUMAN keratin 25D 448 Tail. cytoplasm|intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) GATGTCTTTTCTTCAATGGAG 0.363 Melanoma(19;789 869 15380 26882 39836) NA 21 37 0 0 0.002299 0 0 KRT38 8687 broad.mit.edu 37 17 39597003 39597003 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:39597003C>A uc002hwq.1 - 1 594 c.171G>T c.(169-171)GTG>GTT p.V57V NM_006771 NP_006762 O76015 KRT38_HUMAN keratin 38 57 Head. intermediate filament structural molecule activity skin(2) 2 Breast(137;0.000496) GAGTGGACCCCACACGGACTC 0.632 NA 10 47 0.000673444 0.000730402 0.008291 1 0 KRT19 3880 broad.mit.edu 37 17 39684318 39684318 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:39684318T>C uc002hxd.3 - 1 324 c.182A>G c.(181-183)TAC>TGC p.Y61C JUP_uc010wfs.1_Intron NM_002276 NP_002267 P08727 K1C19_HUMAN keratin 19 61 Head. interspecies interaction between organisms|response to estrogen stimulus|sarcomere organization costamere|intermediate filament protein binding|structural constituent of cytoskeleton|structural constituent of muscle 0 Breast(137;0.00038) GCCGCCGCCGTAGGCCCCCGA 0.716 NA 19 31 0 0 0.008871 0 0 COASY 80347 broad.mit.edu 37 17 40715990 40715990 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:40715990C>T uc002hzz.2 + 3 869 c.712C>T c.(712-714)CCT>TCT p.P238S COASY_uc010cyj.2_Missense_Mutation_p.P267S|COASY_uc002iab.2_5'UTR|COASY_uc002iad.2_Missense_Mutation_p.P238S|COASY_uc002iac.2_Missense_Mutation_p.P238S|COASY_uc002iae.2_5'UTR NM_001042529 NP_001035994 Q13057 COASY_HUMAN coenzyme A synthase isoform a 238 Phosphopantetheine adenylyltransferase. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity 0 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CAAGTTGCTCCCTGAGCTGCT 0.498 NA 14 96 0 0 0.004007 0 0 HOXB9 3219 broad.mit.edu 37 17 46703290 46703290 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:46703290C>G uc002inx.2 - 1 546 c.342G>C c.(340-342)GCG>GCC p.A114A NM_024017 NP_076922 P17482 HXB9_HUMAN homeobox B9 114 canonical Wnt receptor signaling pathway|cell chemotaxis mitochondrion|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCTTCACCGCCGCCTGGCCCT 0.751 NA 7 9 0 0 0.00308 0 0 APPBP2 10513 broad.mit.edu 37 17 58571945 58571945 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:58571945C>A uc002iys.1 - 3 549 c.261G>T c.(259-261)ATG>ATT p.M87I APPBP2_uc010ddl.1_Missense_Mutation_p.M16I NM_006380 NP_006371 Q92624 APBP2_HUMAN amyloid beta precursor protein-binding protein 87 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding 0 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) CACCATGATCCATCAAAGCCT 0.348 NA 40 40 9.58827e-17 1.35291e-16 0.00361 1 0 INTS2 57508 broad.mit.edu 37 17 60003898 60003898 + Silent SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:60003898A>T uc002izn.2 - 2 208 c.132T>A c.(130-132)CTT>CTA p.L44L INTS2_uc002izm.2_Silent_p.L36L NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 44 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 AGGGCAGAAGAAGTCTTAATT 0.468 NA 3 24 0 0 0.009096 0 0 KIF19 124602 broad.mit.edu 37 17 72350426 72350426 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:72350426C>A uc002jkm.3 + 18 2572 c.2434C>A c.(2434-2436)CTG>ATG p.L812M NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 812 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 CAGCCTGTCCCTGCACTCACT 0.711 NA 27 32 7.38237e-10 9.3161e-10 0.00632 1 0 OTOP3 347741 broad.mit.edu 37 17 72937670 72937670 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:72937670G>C uc010wrr.1 + 2 256 c.256G>C c.(256-258)GCT>CCT p.A86P OTOP3_uc010wrq.1_Missense_Mutation_p.A68P NM_178233 NP_839947 Q7RTS5 OTOP3_HUMAN otopetrin 3 86 integral to membrane|intracellular zinc ion binding ovary(1) 1 all_lung(278;0.151)|Lung NSC(278;0.185) GGCCCAGAAGGCTGGACAACT 0.662 NA 10 17 0 0 0.008291 0 0 CCDC40 55036 broad.mit.edu 37 17 78013808 78013808 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:78013808T>C uc010dht.2 + 3 318 c.291T>C c.(289-291)TAT>TAC p.Y97Y CCDC40_uc010wub.1_Silent_p.Y97Y NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 97 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AATATTACTATACAGAAACTT 0.348 NA 5 72 0 0 0.000602 0 0 RNF213 57674 broad.mit.edu 37 17 78357710 78357710 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:78357710C>G uc002jyh.1 + 34 8746 c.8523C>G c.(8521-8523)CTC>CTG p.L2841L uc002jyi.1_Intron|RNF213_uc010dhx.1_5'Flank 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) TGCCCATCCTCTGGCATTTCC 0.502 NA 58 69 0 0 0.00361 0 0 BAIAP2 10458 broad.mit.edu 37 17 79090043 79090043 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:79090043G>A uc002jzg.2 + 15 1705 c.1597G>A c.(1597-1599)GCC>ACC p.A533T BAIAP2_uc002jzd.2_3'UTR|BAIAP2_uc002jzf.2_3'UTR|BAIAP2_uc002jze.2_3'UTR|BAIAP2_uc010wuh.1_3'UTR|BAIAP2_uc002jzh.2_3'UTR NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 533 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) TGATCTGTCCGCCCAAGGGCC 0.632 NA 44 50 0 0 0.00361 0 0 SMCHD1 23347 broad.mit.edu 37 18 2750424 2750424 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:2750424C>T uc002klm.3 + 32 4273 c.4084C>T c.(4084-4086)CTT>TTT p.L1362F SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1362 chromosome organization ATP binding 0 GTTAATGATTCTTCCAGACCC 0.383 NA 27 25 0 0 0.004656 0 0 SMCHD1 23347 broad.mit.edu 37 18 2751313 2751313 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:2751313C>T uc002klm.3 + 33 4392 c.4203C>T c.(4201-4203)ATC>ATT p.I1401I SMCHD1_uc002klk.3_RNA|SMCHD1_uc002kll.3_RNA NM_015295 NP_056110 A6NHR9 SMHD1_HUMAN structural maintenance of chromosomes flexible 1401 chromosome organization ATP binding 0 ATGACAGTATCATTAAAAACA 0.338 NA 11 36 0 0 0.008291 0 0 LPIN2 9663 broad.mit.edu 37 18 2923837 2923837 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:2923837G>A uc002klo.2 - 16 2349 c.2110C>T c.(2110-2112)CTC>TTC p.L704F NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 704 LXXIL motif.|C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) AGCTGTGGGAGAATCTGTCCC 0.483 NA 53 93 0 0 0.00361 0 0 EPB41L3 23136 broad.mit.edu 37 18 5394781 5394781 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:5394781C>G uc002kmt.1 - 22 3251 c.3165G>C c.(3163-3165)CAG>CAC p.Q1055H EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Missense_Mutation_p.Q833H|EPB41L3_uc010dkq.1_Missense_Mutation_p.Q724H|EPB41L3_uc002kms.1_Missense_Mutation_p.Q290H|EPB41L3_uc010wze.1_Missense_Mutation_p.Q360H|EPB41L3_uc010wzf.1_Missense_Mutation_p.Q352H|EPB41L3_uc010wzg.1_Missense_Mutation_p.Q327H|EPB41L3_uc010dkr.2_Missense_Mutation_p.Q447H NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 1055 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 CTTTAATTGCCTGAGCCAGCG 0.493 NA 4 159 0 0 0.009096 0 0 KIAA0802 23255 broad.mit.edu 37 18 8783844 8783844 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:8783844A>T uc002knr.2 + 6 876 c.734A>T c.(733-735)CAG>CTG p.Q245L KIAA0802_uc002knq.2_Missense_Mutation_p.Q245L|KIAA0802_uc010dkw.1_Missense_Mutation_p.Q83L NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 596 Potential. 0 ATGCGGGGCCAGCAGGAGCGG 0.657 NA 32 36 0 0 0.003755 0 0 RNMT 8731 broad.mit.edu 37 18 13734586 13734586 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:13734586A>T uc002ksk.1 + 3 608 c.541A>T c.(541-543)AGT>TGT p.S181C RNMT_uc002ksl.1_Missense_Mutation_p.S181C|RNMT_uc002ksm.1_Missense_Mutation_p.S181C|RNMT_uc010dlk.2_Missense_Mutation_p.S181C|RNMT_uc010xae.1_RNA NM_003799 NP_003790 O43148 MCES_HUMAN RNA (guanine-7-) methyltransferase 181 mRNA capping|transcription from RNA polymerase II promoter|viral reproduction nucleoplasm mRNA (guanine-N7-)-methyltransferase activity|RNA binding 0 TTGGATGAAAAGTGTTCTCAT 0.353 GBM(29;474 594 19092 36647 41529) NA 20 96 0 0 0.008871 0 0 AQP4 361 broad.mit.edu 37 18 24445623 24445623 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:24445623C>T uc002kwa.2 - 1 94 c.31G>A c.(31-33)GGT>AGT p.G11S C18orf16_uc002kwb.2_Intron|C18orf16_uc010xbm.1_Intron NM_001650 NP_001641 P55087 AQP4_HUMAN aquaporin 4 isoform a 11 Cytoplasmic (Potential). cellular response to interferon-gamma|excretion|nervous system development cytoplasm|external side of plasma membrane|integral to plasma membrane water channel activity 0 all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124) AGGACTTACCCCCACCGCCTT 0.517 NA 37 137 0 0 0.00874 0 0 DSG3 1830 broad.mit.edu 37 18 29052319 29052319 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:29052319C>A uc002kws.2 + 13 2079 c.1970C>A c.(1969-1971)CCA>CAA p.P657Q DSG3_uc002kwt.2_5'Flank NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 657 Cytoplasmic (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) GGTTTTATCCCAGTTCCTGAT 0.458 NA 32 57 2.81731e-10 3.58642e-10 0.002096 1 0 CELF4 56853 broad.mit.edu 37 18 34854794 34854794 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:34854794C>G uc002lae.2 - 5 1027 c.631G>C c.(631-633)GCG>CCG p.A211P CELF4_uc010dnd.1_Missense_Mutation_p.A210P|CELF4_uc002lag.2_Missense_Mutation_p.A201P|CELF4_uc002laf.2_Missense_Mutation_p.A206P|CELF4_uc002lai.2_Missense_Mutation_p.A196P|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 211 Sufficient for RNA-binding and MSE- dependent splicing activity.|RRM 2. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 CCGTGTAGCGCGTTGATGGCG 0.741 NA 3 6 0 0 0.009096 0 0 CELF4 56853 broad.mit.edu 37 18 34855077 34855077 + Splice_Site SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:34855077C>A uc002lae.2 - 4 973 c.577_splice c.e4+1 p.G193_splice CELF4_uc010dnd.1_Splice_Site_p.G192_splice|CELF4_uc002lag.2_Splice_Site_p.G183_splice|CELF4_uc002laf.2_Splice_Site_p.G188_splice|CELF4_uc002lai.2_Splice_Site_p.G178_splice|CELF4_uc002lah.1_5'Flank|CELF4_uc002laj.1_5'Flank NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 GCCCCGCGCACCCTTGCTGTT 0.697 NA 5 60 0.000602214 0.000653961 0.000602 1 0 MYO5B 4645 broad.mit.edu 37 18 47429071 47429071 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:47429071C>T uc002leb.2 - 21 2992 c.2704G>A c.(2704-2706)GAG>AAG p.E902K MYO5B_uc002lea.2_Missense_Mutation_p.E43K NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN myosin VB 902 Potential.|IQ 6.|Arg-rich. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity ovary(2)|skin(2)|central_nervous_system(1) 5 READ - Rectum adenocarcinoma(32;0.103) GCCTTCAGCTCCCGCCTGGCC 0.622 NA 15 37 0 0 0.003163 0 0 MAPK4 5596 broad.mit.edu 37 18 48252469 48252469 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:48252469G>T uc002lev.2 + 5 1991 c.991G>T c.(991-993)GAG>TAG p.E331* MAPK4_uc010xdm.1_Nonsense_Mutation_p.E120*|MAPK4_uc010doz.2_Intron NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 331 cell cycle ATP binding|MAP kinase activity p.E331D(1) lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CTTCCGCATTGAGGATGAGAT 0.597 NA 5 58 0.000602214 0.000653961 0.000602 1 0 MAPK4 5596 broad.mit.edu 37 18 48252472 48252472 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:48252472G>T uc002lev.2 + 5 1994 c.994G>T c.(994-996)GAT>TAT p.D332Y MAPK4_uc010xdm.1_Missense_Mutation_p.D121Y|MAPK4_uc010doz.2_Intron NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 332 cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) CCGCATTGAGGATGAGATCGA 0.607 NA 6 55 0.00116845 0.00125944 0.001168 1 0 MBP 4155 broad.mit.edu 37 18 74701954 74701954 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr18:74701954C>A uc010xfd.1 - 5 903 c.639G>T c.(637-639)CGG>CGT p.R213R MBP_uc002lml.2_Silent_p.R106R|MBP_uc002lmn.2_Silent_p.R106R|MBP_uc002lmp.2_Silent_p.R80R|MBP_uc010xfe.1_Silent_p.R80R|MBP_uc010dqz.2_5'Flank NM_001025101 NP_001020272 P02686 MBP_HUMAN Golli-mbp isoform 1 213 Induces experimental autoimmune encephalomyelitis (EAE) 1. central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath haematopoietic_and_lymphoid_tissue(1) 1 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) CATCTTGGGTCCGGCCGTGTG 0.577 NSCLC(17;72 1131 19392) NA 19 69 2.94398e-08 3.57542e-08 0.007413 1 0 MADCAM1 8174 broad.mit.edu 37 19 498565 498565 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:498565C>G uc002los.2 + 3 417 c.407C>G c.(406-408)GCC>GGC p.A136G MADCAM1_uc002lot.2_Missense_Mutation_p.A136G|MADCAM1_uc010drq.2_Missense_Mutation_p.A41G NM_130760 NP_570116 Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion 136 Extracellular (Potential).|Ig-like 2. cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane 0 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCCTGTACGGCCCACAAAGTC 0.706 NA 5 9 0 0 0.000602 0 0 MADCAM1 8174 broad.mit.edu 37 19 498569 498569 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:498569C>A uc002los.2 + 3 421 c.411C>A c.(409-411)CAC>CAA p.H137Q MADCAM1_uc002lot.2_Missense_Mutation_p.H137Q|MADCAM1_uc010drq.2_Missense_Mutation_p.H42Q NM_130760 NP_570116 Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion 137 Extracellular (Potential).|Ig-like 2. cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane 0 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTACGGCCCACAAAGTCACGC 0.711 NA 4 9 0.00909568 0.00956747 0.009096 1 0 BSG 682 broad.mit.edu 37 19 581345 581345 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:581345T>G uc002loz.2 + 6 921 c.823T>G c.(823-825)TTC>GTC p.F275V BSG_uc002loy.2_Missense_Mutation_p.F95V|BSG_uc002lpa.2_Missense_Mutation_p.F159V|BSG_uc002lpb.2_RNA|BSG_uc010drr.2_Missense_Mutation_p.F159V|BSG_uc002lpc.2_Missense_Mutation_p.F322V|BSG_uc002lpd.2_5'Flank NM_001728 NP_001719 P35613 BASI_HUMAN basigin isoform 1 precursor 275 Extracellular (Potential).|Ig-like V-type. blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process Golgi membrane|integral to membrane|melanosome lactate transmembrane transporter activity|mannose binding|protein binding 0 all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGCAGGTTCTTCGTGAGTTC 0.637 NA 8 56 0 0 0.004482 0 0 ABCA7 10347 broad.mit.edu 37 19 1049420 1049420 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:1049420G>T uc002lqw.3 + 18 2767 c.2536G>T c.(2536-2538)GGC>TGC p.G846C ABCA7_uc010dsb.1_Missense_Mutation_p.G708C NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 846 ATP 1 (Potential).|ABC transporter 1. phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CAACGGGGCCGGCAAGACCAC 0.692 NA 11 24 3.07112e-06 3.54235e-06 0.000978 1 0 POLR2E 5434 broad.mit.edu 37 19 1091841 1091841 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:1091841T>A uc002lre.3 - 3 375 c.298A>T c.(298-300)ACA>TCA p.T100S POLR2E_uc010xgf.1_RNA NM_002695 NP_002686 P19388 RPAB1_HUMAN DNA directed RNA polymerase II polypeptide E 100 interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA binding|DNA-directed RNA polymerase activity 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGCCCGTGTGATGTTCTCC 0.652 NA 33 37 0 0 0.003271 0 0 ZNF556 80032 broad.mit.edu 37 19 2878065 2878065 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:2878065A>G uc002lwp.1 + 4 1196 c.1109A>G c.(1108-1110)TAT>TGT p.Y370C ZNF556_uc002lwq.2_Missense_Mutation_p.Y369C NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 370 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGAAAGTCTATAAATGTGAA 0.478 NA 13 22 0 0 0.001368 0 0 PLIN4 729359 broad.mit.edu 37 19 4511819 4511819 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:4511819C>G uc002mar.1 - 3 2111 c.2111G>C c.(2110-2112)AGT>ACT p.S704T PLIN4_uc010dub.1_5'Flank NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 704 19.|27 X 33 AA approximate tandem repeat. lipid particle|plasma membrane 0 GGTGTCCACACTGGTCTGGAC 0.607 NA 4 377 0 0 0.000602 0 0 PLIN4 729359 broad.mit.edu 37 19 4517573 4517573 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:4517573C>T uc002mar.1 - 1 144 c.144G>A c.(142-144)CAG>CAA p.Q48Q NM_001080400 NP_001073869 Q96Q06 PLIN4_HUMAN plasma membrane associated protein, S3-12 48 lipid particle|plasma membrane 0 CACCCTGAGCCTGTGGTTGGG 0.701 NA 7 10 0 0 0.001984 0 0 INSR 3643 broad.mit.edu 37 19 7184418 7184418 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:7184418T>A uc002mgd.1 - 3 992 c.883A>T c.(883-885)AAC>TAC p.N295Y INSR_uc002mge.1_Missense_Mutation_p.N295Y|INSR_uc002mgf.2_Missense_Mutation_p.N295Y NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 295 Cys-rich. activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCCGCGAGTTCTTGCATTTG 0.577 NA 18 24 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9062533 9062533 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:9062533C>A uc002mkp.2 - 3 25117 c.24913G>T c.(24913-24915)GTG>TTG p.V8305L NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8307 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GTGGTTATCACCAGGCCAGGG 0.502 NA 35 57 6.90743e-12 9.05756e-12 0.003755 1 0 OR7G1 125962 broad.mit.edu 37 19 9226066 9226066 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:9226066G>T uc002mks.1 - 1 374 c.374C>A c.(373-375)GCC>GAC p.A125D NM_001005192 NP_001005192 Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, 125 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 GTGGCAAATGGCCACATAGCG 0.498 NA 37 51 9.17885e-22 1.35891e-21 0.003271 1 0 ZNF560 147741 broad.mit.edu 37 19 9581105 9581105 + Silent SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:9581105A>G uc002mlp.1 - 7 621 c.411T>C c.(409-411)GAT>GAC p.D137D ZNF560_uc010dwr.1_Silent_p.D31D NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 137 KRAB 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 CCAGCATCACATCACTGTACA 0.458 NA 34 53 0 0 0.004289 0 0 EMR2 30817 broad.mit.edu 37 19 14877104 14877104 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:14877104G>T uc002mzp.1 - 7 1033 c.577C>A c.(577-579)CCG>ACG p.P193T EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Missense_Mutation_p.P193T|EMR2_uc002mzo.1_Missense_Mutation_p.P193T|EMR2_uc002mzq.1_Intron|EMR2_uc002mzr.1_Intron|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Intron|EMR2_uc010xny.1_Intron NM_013447 NP_038475 Q9UHX3 EMR2_HUMAN egf-like module containing, mucin-like, hormone 193 EGF-like 4; calcium-binding (Potential).|Extracellular (Potential). cell adhesion|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity lung(2)|ovary(1)|skin(1) 4 TGCCAGCCCGGGCGGCAGCGG 0.582 NA 54 76 9.59449e-18 1.36483e-17 0.00361 1 0 WIZ 58525 broad.mit.edu 37 19 15535040 15535040 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:15535040T>C uc002nbc.2 - 7 2724 c.2701A>G c.(2701-2703)ACA>GCA p.T901A WIZ_uc002nba.3_Missense_Mutation_p.T768A|WIZ_uc002nbb.3_Missense_Mutation_p.T727A NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1584 nucleus zinc ion binding 0 ACAAGTGATGTCTGGGGGGGC 0.647 NA 3 10 0 0 0.009096 0 0 CYP4F3 4051 broad.mit.edu 37 19 15769135 15769135 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:15769135C>T uc002nbj.2 + 10 1227 c.1177C>T c.(1177-1179)CCC>TCC p.P393S CYP4F3_uc010xok.1_Missense_Mutation_p.P393S|CYP4F3_uc010xol.1_Missense_Mutation_p.P393S|CYP4F3_uc010xom.1_Missense_Mutation_p.P244S|CYP4F3_uc002nbk.2_Missense_Mutation_p.P393S|CYP4F3_uc010xon.1_Missense_Mutation_p.P103S NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 393 leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 GAGGCTGCATCCCCCAGTCCC 0.627 NA 4 100 0 0 0.009096 0 0 FAM129C 199786 broad.mit.edu 37 19 17654231 17654231 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:17654231C>T uc010xpr.1 + 12 1666 c.1528C>T c.(1528-1530)CGC>TGC p.R510C FAM129C_uc010xpq.1_Missense_Mutation_p.R510C|FAM129C_uc002ngy.3_Missense_Mutation_p.R236C|FAM129C_uc010xpu.1_Missense_Mutation_p.R236C|FAM129C_uc002ngz.3_RNA|FAM129C_uc010eaw.2_Missense_Mutation_p.R236C|FAM129C_uc002nhb.2_Missense_Mutation_p.R109C NM_173544 NP_775815 Q86XR2 NIBL2_HUMAN B-cell novel protein 1 isoform a 510 0 AGTCAGGGGGCGCGTGCTGAA 0.657 NA 46 56 0 0 0.00361 0 0 SF4 57794 broad.mit.edu 37 19 19427361 19427361 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:19427361C>A uc002nmh.2 - 2 78 c.76G>T c.(76-78)GGA>TGA p.G26* SF4_uc002nmi.2_5'UTR|SF4_uc002nmj.2_5'UTR|SF4_uc010xqr.1_RNA|SF4_uc010xqs.1_RNA NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 26 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 TTCATTTTTCCAGATTTAGGG 0.483 NA 12 39 1.08611e-07 1.29383e-07 0.000978 1 0 C19orf2 8725 broad.mit.edu 37 19 30476162 30476162 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:30476162G>A uc002nsr.2 + 3 215 c.185G>A c.(184-186)CGA>CAA p.R62Q C19orf2_uc002nsq.2_Missense_Mutation_p.R44Q|C19orf2_uc002nss.2_Missense_Mutation_p.R22Q|C19orf2_uc002nst.2_5'UTR NM_003796 NP_003787 O94763 RMP_HUMAN RPB5-mediating protein isoform a 62 protein folding|regulation of transcription from RNA polymerase II promoter|response to virus DNA-directed RNA polymerase II, core complex|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1)|kidney(1) 2 Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) Hepatocellular(1079;0.137)|Renal(1328;0.228) STAD - Stomach adenocarcinoma(5;5.36e-06)|Lung(7;0.0144)|LUAD - Lung adenocarcinoma(5;0.115) STAD - Stomach adenocarcinoma(1328;0.18) AATGCCCTTCGAGAAAGACTC 0.269 Melanoma(75;661 1306 1472 28422 37948) NA 14 180 0 0 0.00499 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355539 33355539 + Silent SNP C C T rs141456885 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:33355539C>T uc002ntv.3 - 3 348 c.231G>A c.(229-231)ACG>ACA p.T77T SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Silent_p.T77T|SLC7A9_uc002ntw.3_Intron NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 77 Helical; (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) CTTTACCCAGCGTCGCGAGGA 0.632 GBM(181;1335 2108 9644 44178 46689) NA 74 32 0 0 0.00361 0 0 CCDC123 84902 broad.mit.edu 37 19 33424517 33424517 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:33424517T>A uc002nty.2 - 8 815 c.726A>T c.(724-726)GCA>GCT p.A242A CCDC123_uc002ntx.2_5'UTR|CCDC123_uc010edg.2_RNA|CCDC123_uc002ntz.1_Silent_p.A242A|CCDC123_uc002nua.2_Silent_p.A242A NM_032816 NP_116205 Q96ST8 CEP89_HUMAN coiled-coil domain containing 123 242 Potential. centrosome|spindle pole 0 Esophageal squamous(110;0.137) CTTCTTTTAATGCCTCAAACT 0.318 NA 9 179 0 0 0.004482 0 0 ZNF181 339318 broad.mit.edu 37 19 35232200 35232200 + Missense_Mutation SNP T T G rs143797666 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:35232200T>G uc002nvu.3 + 4 1377 c.914T>G c.(913-915)GTC>GGC p.V305G ZNF181_uc010xsa.1_Missense_Mutation_p.V304G|ZNF181_uc010xsb.1_Missense_Mutation_p.V304G|ZNF181_uc010xsc.1_Missense_Mutation_p.V240G NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 305 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTTAGCCATGTCTCATCACTT 0.413 NA 3 123 0 0 0.001168 0 0 NPHS1 4868 broad.mit.edu 37 19 36330257 36330257 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:36330257G>A uc002oby.2 - 22 2991 c.2991C>T c.(2989-2991)ACC>ACT p.T997T NPHS1_uc010eem.1_RNA NM_004646 NP_004637 O60500 NPHN_HUMAN nephrin precursor 997 Fibronectin type-III.|Extracellular (Potential). cell adhesion|excretion|muscle organ development integral to plasma membrane ovary(4)|skin(1) 5 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) TCAGCGTGAAGGTGGTGGCCT 0.582 NA 8 101 0 0 0.006214 0 0 WDR62 284403 broad.mit.edu 37 19 36557325 36557325 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:36557325G>T uc002odc.2 + 5 648 c.557G>T c.(556-558)TGG>TTG p.W186L WDR62_uc002odd.2_Missense_Mutation_p.W186L|WDR62_uc002odb.2_Missense_Mutation_p.W186L NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 186 WD 2. cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) GTCTGGGACTGGAAGGTAAGA 0.567 NA 8 1 5.18039e-06 5.95165e-06 0.00308 1 0 PAF1 54623 broad.mit.edu 37 19 39876663 39876663 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:39876663C>T uc002old.2 - 14 1739 c.1564G>A c.(1564-1566)GAT>AAT p.D522N PAF1_uc002ole.1_Silent_p.L450L NM_019088 NP_061961 Q8N7H5 PAF1_HUMAN Paf1, RNA polymerase II associated factor, 522 histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent Cdc73/Paf1 complex protein binding pancreas(1) 1 all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TCACTGGAATCAGAAGCTGCA 0.592 NA 9 51 0 0 0.008291 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213867 42213867 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:42213867C>T uc002ork.2 + 2 454 c.333C>T c.(331-333)AAC>AAT p.N111N CEACAM5_uc010ehz.1_Silent_p.N111N|CEACAM5_uc002orj.1_Silent_p.N111N|CEACAM5_uc002orl.2_Silent_p.N111N NM_004363 NP_004354 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion 111 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane skin(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) TGATCCAGAACATCATCCAGA 0.453 NA 24 290 0 0 0.003954 0 0 KCNN4 3783 broad.mit.edu 37 19 44273904 44273904 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:44273904G>T uc002oxl.2 - 5 1293 c.897C>A c.(895-897)CAC>CAA p.H299Q KCNN4_uc010eiz.2_Missense_Mutation_p.H212Q NM_002250 NP_002241 O15554 KCNN4_HUMAN intermediate conductance calcium-activated 299 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding ovary(2) 2 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TCATGAAGTTGTGCACGTGCT 0.512 NA 46 61 6.27289e-28 9.57962e-28 0.00361 1 0 ZNF223 7766 broad.mit.edu 37 19 44564659 44564659 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:44564659G>T uc002oyf.1 + 3 320 c.67G>T c.(67-69)GGG>TGG p.G23W ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) GGAGGAGCTGGGGCTGCTGGA 0.517 NA 84 123 2.35699e-46 3.77811e-46 0.00361 1 0 GIPR 2696 broad.mit.edu 37 19 46173932 46173932 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:46173932C>A uc002pcu.1 + 3 211 c.112C>A c.(112-114)CGC>AGC p.R38S GIPR_uc002pct.1_Missense_Mutation_p.R38S|GIPR_uc010xxp.1_Missense_Mutation_p.R38S|GIPR_uc010xxq.1_RNA NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 38 Extracellular (Potential). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) GCTGTACCAGCGCTGGGAACG 0.677 NA 18 18 1.56452e-12 2.07335e-12 0.007413 1 0 SYMPK 8189 broad.mit.edu 37 19 46345558 46345558 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:46345558C>A uc002pdn.2 - 9 1282 c.1037G>T c.(1036-1038)CGC>CTC p.R346L SYMPK_uc002pdo.1_Missense_Mutation_p.R346L|SYMPK_uc002pdp.1_Missense_Mutation_p.R346L|SYMPK_uc002pdq.1_Missense_Mutation_p.R346L NM_004819 NP_004810 Q92797 SYMPK_HUMAN symplekin 346 Nuclear localization signal (Potential). 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) GGGCCGCTTGCGGGTGTCCTT 0.627 NA 35 42 4.65686e-17 6.6029e-17 0.003755 1 0 HIF3A 64344 broad.mit.edu 37 19 46808501 46808501 + Splice_Site SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:46808501G>A uc002peh.2 + 3 247 c.218_splice c.e3-1 p.G73_splice HIF3A_uc002pef.1_Splice_Site_p.G73_splice|HIF3A_uc002peg.3_Splice_Site_p.G73_splice|HIF3A_uc010xxx.1_Splice_Site|HIF3A_uc002pei.3_Splice_Site_p.G17_splice|HIF3A_uc002pej.1_Intron|HIF3A_uc002pek.2_Splice_Site_p.G17_splice|HIF3A_uc010xxy.1_Intron|HIF3A_uc002pel.2_Splice_Site_p.G71_splice|HIF3A_uc010xxz.1_Intron NM_152795 NP_690008 Q9Y2N7 HIF3A_HUMAN hypoxia inducible factor 3, alpha subunit regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 Ovarian(192;0.00965)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136) CCGGGCACCAGGGGAGTGGAA 0.612 NA 34 48 0 0 0.003271 0 0 GLTSCR1 29998 broad.mit.edu 37 19 48205578 48205578 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:48205578G>A uc002phh.3 + 15 4783 c.4589G>A c.(4588-4590)GGC>GAC p.G1530D GLTSCR1_uc002phi.3_Missense_Mutation_p.G1288D NM_015711 NP_056526 Q9NZM4 GSCR1_HUMAN glioma tumor suppressor candidate region gene 1 1530 protein binding pancreas(3) 3 all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086) all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355) GCCTCGGCCGGCACCCCCGCA 0.726 NA 8 7 0 0 0.00308 0 0 CCDC155 147872 broad.mit.edu 37 19 49898410 49898410 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:49898410G>A uc002pnm.1 + 4 370 c.196G>A c.(196-198)GGC>AGC p.G66S CCDC155_uc002pnl.1_Missense_Mutation_p.G66S|CCDC155_uc010emx.1_Missense_Mutation_p.G39S NM_144688 NP_653289 Q8N6L0 CC155_HUMAN coiled-coil domain containing 155 66 integral to membrane calcium ion binding ovary(1)|central_nervous_system(1) 2 GGCTGTGACAGGCCAGGGCCC 0.637 NA 12 21 0 0 0.001368 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918205 51918205 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:51918205G>T uc002pwo.2 - 8 2104 c.1488C>A c.(1486-1488)CCC>CCA p.P496P SIGLEC10_uc002pwp.2_Silent_p.P438P|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 496 Extracellular (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CGGCTGAGCTGGGGGTGACCT 0.711 NA 19 22 1.45105e-14 1.97706e-14 0.006122 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51958820 51958820 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:51958820G>T uc002pwt.2 - 4 970 c.903C>A c.(901-903)ACC>ACA p.T301T SIGLEC8_uc010yda.1_Silent_p.T192T|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Silent_p.T208T NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 301 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGGGGCACAGGGTCAGGCTCC 0.632 NA 28 25 2.12542e-12 2.79964e-12 0.00632 1 0 BIRC8 112401 broad.mit.edu 37 19 53793627 53793627 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:53793627T>C uc002qbk.2 - 1 1249 c.1A>G c.(1-3)ATG>GTG p.M1V NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 1 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) TAACCCGTCATGGATGGATTC 0.418 NA 27 44 0 0 0.00632 0 0 LILRB5 10990 broad.mit.edu 37 19 54760611 54760611 + Nonsense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:54760611C>T uc002qex.2 - 3 207 c.96G>A c.(94-96)TGG>TGA p.W32* LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Nonsense_Mutation_p.W32*|LILRB5_uc002qey.2_Nonsense_Mutation_p.W32*|LILRB5_uc002qez.2_Nonsense_Mutation_p.W32*|LILRB5_uc002qfa.1_Nonsense_Mutation_p.W22*|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 32 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) CTGGCTCAGCCCAGAGGGTGG 0.622 NA 45 34 0 0 0.002522 0 0 LILRB1 10859 broad.mit.edu 37 19 55143585 55143585 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:55143585C>T uc002qgj.2 + 6 898 c.558C>T c.(556-558)CCC>CCT p.P186P LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.P186P|LILRB1_uc002qgk.2_Silent_p.P186P|LILRB1_uc002qgm.2_Silent_p.P186P|LILRB1_uc010erq.2_Silent_p.P186P|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 186 Ig-like C2-type 2.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CCGTGGGCCCCGTGAGCCCGA 0.592 NA HNSCC(37;0.09) 59 82 0 0 0.00361 0 0 NCR1 9437 broad.mit.edu 37 19 55417575 55417575 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:55417575C>T uc002qib.2 + 1 68 c.30C>T c.(28-30)TGC>TGT p.C10C NCR1_uc002qic.2_Silent_p.C10C|NCR1_uc002qie.2_Silent_p.C10C|NCR1_uc002qid.2_Silent_p.C10C|NCR1_uc002qif.2_Silent_p.C10C|NCR1_uc010esj.2_Silent_p.C10C NM_004829 NP_004820 O76036 NCTR1_HUMAN natural cytotoxicity triggering receptor 1 10 cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity integral to plasma membrane|SWI/SNF complex receptor activity|receptor signaling protein activity large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(193;0.0449) CCCTGCTCTGCGTCGGTGAGT 0.607 NA 30 38 0 0 0.002836 0 0 NLRP11 204801 broad.mit.edu 37 19 56319360 56319360 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:56319360T>C uc010ygf.1 - 6 2573 c.1862A>G c.(1861-1863)TAC>TGC p.Y621C NLRP11_uc002qlz.2_Intron|NLRP11_uc002qmb.2_Missense_Mutation_p.Y522C|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 621 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTCTCTCCAGTAGACAAGGCT 0.363 NA 44 31 0 0 0.003214 0 0 NLRP4 147945 broad.mit.edu 37 19 56379097 56379098 + Missense_Mutation DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:56379097_56379098CC>AA uc002qmd.3 + 6 2631_2632 c.2209_2210CC>AA c.(2209-2211)CCC>AAC p.P737N NLRP4_uc002qmf.2_Missense_Mutation_p.P662N|NLRP4_uc010etf.2_Intron NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 737 LRR 3. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) TCACCTCTCACCCATTGATTGT 0.47 NA 24 62 0 0 0.004672 0 0 NLRP13 126204 broad.mit.edu 37 19 56419176 56419176 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:56419176C>T uc010ygg.1 - 7 2454 c.2429G>A c.(2428-2430)TGC>TAC p.C810Y NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 810 ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) CTTGAGGTTGCAAGCTGAGTG 0.517 NA 56 57 0 0 0.00361 0 0 ZNF667 63934 broad.mit.edu 37 19 56953189 56953189 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:56953189T>C uc002qnd.2 - 5 1337 c.1175A>G c.(1174-1176)GAG>GGG p.E392G ZNF667_uc010etl.2_Missense_Mutation_p.E174G|ZNF667_uc002qne.2_Missense_Mutation_p.E392G|ZNF667_uc010etm.2_Missense_Mutation_p.E335G NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 392 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) GCAGACCTTCTCACATTTATT 0.348 NA 6 51 0 0 0.001168 0 0 PEG3 5178 broad.mit.edu 37 19 57328349 57328349 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:57328349G>C uc002qnu.2 - 7 1812 c.1461C>G c.(1459-1461)ATC>ATG p.I487M ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.I458M|PEG3_uc002qnv.2_Missense_Mutation_p.I487M|PEG3_uc002qnw.2_Missense_Mutation_p.I363M|PEG3_uc002qnx.2_Missense_Mutation_p.I361M|PEG3_uc010etr.2_Missense_Mutation_p.I487M NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 487 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCACACTGTGGATAAAGGACT 0.463 NA 22 134 0 0 0.002299 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58551818 58551818 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr19:58551818T>C uc002qrc.1 + 4 618 c.371T>C c.(370-372)GTT>GCT p.V124A NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 124 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) TCCCGCACAGTTCTGGTATCT 0.587 NA 20 133 0 0 0.010504 0 0 PXDN 7837 broad.mit.edu 37 2 1652063 1652063 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:1652063C>G uc002qxa.2 - 17 3553 c.3489G>C c.(3487-3489)CGG>CGC p.R1163R NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1163 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCCCGTGGTCCCGGCCCCGCT 0.597 NA 39 133 0 0 0.004878 0 0 PXDN 7837 broad.mit.edu 37 2 1653374 1653374 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:1653374G>T uc002qxa.2 - 17 2242 c.2178C>A c.(2176-2178)CAC>CAA p.H726Q NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 726 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TCACGCGCCGGTGGGCGGTAC 0.602 NA 28 76 2.4375e-19 3.51904e-19 0.007291 1 0 SOX11 6664 broad.mit.edu 37 2 5833567 5833567 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:5833567G>C uc002qyj.2 + 1 769 c.714G>C c.(712-714)CAG>CAC p.Q238H NM_003108 NP_003099 P35716 SOX11_HUMAN SRY-box 11 238 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(3) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) TGCAGCTGCAGATCAAACAGG 0.582 NA 6 18 0 0 0.001168 0 0 RAD51AP2 729475 broad.mit.edu 37 2 17697591 17697591 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:17697591C>T uc002rcl.1 - 1 2116 c.2092G>A c.(2092-2094)GAT>AAT p.D698N RAD51AP2_uc010exn.1_Missense_Mutation_p.D689N NM_001099218 NP_001092688 Q09MP3 R51A2_HUMAN RAD51 associated protein 2 698 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GAAATTTCATCCATGTCATCA 0.308 NA 16 70 0 0 0.003163 0 0 CAD 790 broad.mit.edu 37 2 27446491 27446491 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:27446491G>A uc002rji.2 + 7 1032 c.870G>A c.(868-870)CTG>CTA p.L290L CAD_uc010eyw.2_Silent_p.L290L NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 290 Glutamine amidotransferase type-1.|GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GCTGCTTTCTGACATCCCAGA 0.567 NA 13 270 0 0 0.001368 0 0 ALK 238 broad.mit.edu 37 2 29551274 29551274 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:29551274C>G uc002rmy.2 - 6 2263 c.1356G>C c.(1354-1356)GGG>GGC p.G452G NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 452 LDL-receptor class A.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) CACAGGCCTGCCCAAGCTGGA 0.602 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 9 65 0 0 0.006214 0 0 SLC8A1 6546 broad.mit.edu 37 2 40656505 40656505 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:40656505C>A uc002rrx.2 - 1 940 c.916G>T c.(916-918)GGT>TGT p.G306C SLC8A1_uc002rry.2_Missense_Mutation_p.G306C|SLC8A1_uc002rrz.2_Missense_Mutation_p.G306C|SLC8A1_uc002rsa.2_Missense_Mutation_p.G306C|SLC8A1_uc002rsd.3_Missense_Mutation_p.G306C|SLC8A1_uc002rsb.1_Missense_Mutation_p.G306C|SLC8A1_uc010fan.1_Missense_Mutation_p.G306C|SLC8A1_uc002rsc.1_Missense_Mutation_p.G306C NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 306 Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) ACCAGAGCACCATCTAAGAAA 0.438 NA 67 197 6.05568e-20 8.78628e-20 0.00361 1 0 SRBD1 55133 broad.mit.edu 37 2 45829073 45829073 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:45829073C>A uc002rus.2 - 3 306 c.230G>T c.(229-231)GGC>GTC p.G77V NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 77 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) GACTTCTGAGCCATCACTGAT 0.478 NA 66 186 7.1157e-29 1.09821e-28 0.00361 1 0 FSHR 2492 broad.mit.edu 37 2 49190767 49190767 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:49190767C>A uc002rww.2 - 10 1267 c.1193G>T c.(1192-1194)AGG>ATG p.R398M FSHR_uc002rwx.2_Missense_Mutation_p.R336M|FSHR_uc010fbn.2_Missense_Mutation_p.R372M NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 398 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CATAAGGAACCTGGGGACTGT 0.458 NA Gonadal_Dysgenesis_46_XX 20 52 4.96729e-08 5.9827e-08 0.008871 1 0 NRXN1 9378 broad.mit.edu 37 2 50724546 50724546 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:50724546G>T uc010fbq.2 - 14 4401 c.2924C>A c.(2923-2925)ACA>AAA p.T975K NRXN1_uc002rxb.3_Missense_Mutation_p.T607K|NRXN1_uc002rxe.3_Missense_Mutation_p.T935K|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TAGGGATGTTGTCTTGAACTG 0.393 NA 29 45 1.77063e-15 2.45078e-15 0.005443 1 0 NRXN1 9378 broad.mit.edu 37 2 50847242 50847242 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:50847242A>G uc010fbq.2 - 8 2835 c.1358T>C c.(1357-1359)TTT>TCT p.F453S NRXN1_uc002rxb.3_Missense_Mutation_p.F85S|NRXN1_uc002rxe.3_Missense_Mutation_p.F413S|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AACATAGAAAAAGTCATCAGA 0.473 NA 10 33 0 0 0.008291 0 0 VRK2 7444 broad.mit.edu 37 2 58366863 58366863 + Nonsense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:58366863C>T uc002rzo.2 + 14 1664 c.919C>T c.(919-921)CAA>TAA p.Q307* VRK2_uc010fcb.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzs.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzr.2_Nonsense_Mutation_p.Q307*|VRK2_uc010fcc.2_Nonsense_Mutation_p.Q189*|VRK2_uc002rzv.2_Nonsense_Mutation_p.Q307*|VRK2_uc010fcd.2_Nonsense_Mutation_p.Q284*|VRK2_uc002rzp.2_Nonsense_Mutation_p.Q307*|VRK2_uc010ypg.1_Nonsense_Mutation_p.Q307*|VRK2_uc002rzq.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzu.2_Nonsense_Mutation_p.Q307*|VRK2_uc002rzt.2_Nonsense_Mutation_p.Q189* NM_001130482 NP_001123954 Q86Y07 VRK2_HUMAN vaccinia related kinase 2 isoform 2 307 Protein kinase. integral to membrane ATP binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 GCCAAACTATCAAGCCCTCAA 0.348 NA 13 61 0 0 0.001368 0 0 BMP10 27302 broad.mit.edu 37 2 69098276 69098276 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:69098276G>T uc002sez.1 - 1 374 c.215C>A c.(214-216)CCC>CAC p.P72H NM_014482 NP_055297 O95393 BMP10_HUMAN bone morphogenetic protein 10 preproprotein 72 activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis cell surface|extracellular space|Z disc cytokine activity|growth factor activity|receptor serine/threonine kinase binding ovary(2) 2 ATCCTGCGTGGGGATGTCAGA 0.473 NA 69 125 5.00936e-31 7.80028e-31 0.00361 1 0 TIA1 7072 broad.mit.edu 37 2 70451749 70451749 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:70451749C>A uc002sgj.3 - 7 628 c.411G>T c.(409-411)GTG>GTT p.V137V TIA1_uc002sgk.3_Silent_p.V126V|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Silent_p.V137V NM_022173 NP_071505 P31483 TIA1_HUMAN TIA1 cytotoxic granule-associated RNA binding 137 RRM 2. apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|poly(A) RNA binding|protein binding 0 TGTCTTTTACCACTCGGGCAT 0.388 NA 9 49 1.12685e-05 1.28446e-05 0.004482 1 0 ALMS1 7840 broad.mit.edu 37 2 73659341 73659341 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:73659341G>T uc002sje.1 + 8 1468 c.1357G>T c.(1357-1359)GAA>TAA p.E453* ALMS1_uc002sjf.1_Nonsense_Mutation_p.E410* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 452 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 AAGAGAGTCGGAATATCACTC 0.393 NA 22 74 1.50039e-11 1.94404e-11 0.001882 1 0 ALMS1 7840 broad.mit.edu 37 2 73679254 73679254 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:73679254A>G uc002sje.1 + 10 5714 c.5603A>G c.(5602-5604)GAT>GGT p.D1868G ALMS1_uc002sjf.1_Missense_Mutation_p.D1824G|ALMS1_uc002sjg.2_Missense_Mutation_p.D1254G|ALMS1_uc002sjh.1_Missense_Mutation_p.D1254G NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1866 29.|34 X 47 AA approximate tandem repeat. G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 GAGTTGCCAGATCTTACTGAA 0.468 NA 23 77 0 0 0.001882 0 0 REG3A 5068 broad.mit.edu 37 2 79385781 79385781 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:79385781G>A uc002sod.1 - 2 446 c.191C>T c.(190-192)GCA>GTA p.A64V REG3A_uc002soe.1_Missense_Mutation_p.A64V|REG3A_uc002sof.1_Missense_Mutation_p.A64V NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 64 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ACTCACATCTGCATCTGTCCA 0.537 NA 36 52 0 0 0.003755 0 0 CTNNA2 1496 broad.mit.edu 37 2 80101247 80101247 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:80101247G>T uc010ysh.1 + 5 636 c.631G>T c.(631-633)GGG>TGG p.G211W CTNNA2_uc010yse.1_Missense_Mutation_p.G211W|CTNNA2_uc010ysf.1_Missense_Mutation_p.G211W|CTNNA2_uc010ysg.1_Missense_Mutation_p.G211W NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 211 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 AGCCGCCCGAGGGGCTCTGAA 0.507 NA 13 46 5.50884e-06 6.32067e-06 0.001368 1 0 LRRTM1 347730 broad.mit.edu 37 2 80529979 80529979 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:80529979C>G uc002sok.1 - 2 1236 c.966G>C c.(964-966)GTG>GTC p.V322V CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 322 LRRCT.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CTAGGGCACACACGTTGCGCC 0.637 NA HNSCC(69;0.2) 8 21 0 0 0.00308 0 0 MAL 4118 broad.mit.edu 37 2 95713751 95713751 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:95713751C>T uc002stx.1 + 2 200 c.141C>T c.(139-141)CCC>CCT p.P47P MAL_uc002sty.1_Intron|MAL_uc002stz.1_Silent_p.P47P|MAL_uc002sua.1_Intron NM_002371 NP_002362 P21145 MAL_HUMAN T-lymphocyte maturation-associated protein 47 MARVEL.|Extracellular (Potential). apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath 0 STAD - Stomach adenocarcinoma(1183;0.18) CCCTGGTGCCCTGGCCCCTGG 0.632 NA 8 68 0 0 0.004482 0 0 NCAPH 23397 broad.mit.edu 37 2 97007797 97007797 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:97007797C>G uc002svz.1 + 3 366 c.282C>G c.(280-282)GAC>GAG p.D94E NCAPH_uc010fhu.1_Missense_Mutation_p.D70E|NCAPH_uc010fhv.1_Missense_Mutation_p.D83E|NCAPH_uc010yum.1_Missense_Mutation_p.D70E|NCAPH_uc010fhw.1_Missense_Mutation_p.D83E|NCAPH_uc010yun.1_5'UTR|NCAPH_uc002swa.1_Intron NM_015341 NP_056156 Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 94 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus urinary_tract(1)|skin(1) 2 Ovarian(717;0.0221) GGAGTATTGACATTTCAGCTA 0.368 NA 4 63 0 0 0.009096 0 0 CNGA3 1261 broad.mit.edu 37 2 99008327 99008327 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:99008327G>T uc002syt.2 + 7 984 c.567G>T c.(565-567)AGG>AGT p.R189S CNGA3_uc002syu.2_Missense_Mutation_p.R171S|CNGA3_uc010fij.2_Missense_Mutation_p.R193S NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 189 Helical; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 GCTTCTTTAGGGCCTGTTTCG 0.567 NA 14 61 7.93312e-07 9.26062e-07 0.00245 1 0 SLC9A2 6549 broad.mit.edu 37 2 103299840 103299840 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:103299840C>T uc002tca.2 + 4 1267 c.1125C>T c.(1123-1125)TTC>TTT p.F375F NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 375 Helical; Name=J/M8; (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 CCTTGATCTTCATCTTCATGG 0.493 NA 9 98 0 0 0.008291 0 0 UXS1 80146 broad.mit.edu 37 2 106717570 106717570 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:106717570G>C uc002tdm.2 - 12 1011 c.913C>G c.(913-915)CTA>GTA p.L305V UXS1_uc002tdl.2_Missense_Mutation_p.L137V|UXS1_uc002tdn.2_Missense_Mutation_p.L310V|UXS1_uc002tdo.2_Missense_Mutation_p.L248V|UXS1_uc010ywh.1_Missense_Mutation_p.L149V NM_025076 NP_079352 Q8NBZ7 UXS1_HUMAN UDP-glucuronate decarboxylase 1 305 Lumenal (Potential). cellular metabolic process Golgi cisterna membrane|integral to membrane coenzyme binding|UDP-glucuronate decarboxylase activity ovary(2) 2 CCATTCACTAGATCGCTGGAA 0.552 NA 3 82 0 0 0.004672 0 0 RANBP2 5903 broad.mit.edu 37 2 109381301 109381301 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:109381301A>G uc002tem.3 + 20 4432 c.4306A>G c.(4306-4308)ATT>GTT p.I1436V NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 1436 RanBP2-type 2. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 ATCTAGGTGCATTGCGTGTCA 0.363 NA 28 63 0 0 0.004656 0 0 RANBP2 5903 broad.mit.edu 37 2 109388295 109388295 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:109388295G>C uc002tem.3 + 21 8114 c.7988G>C c.(7987-7989)AGA>ACA p.R2663T NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2663 Required for E3 SUMO-ligase activity.|1.|Interaction with UBE2I.|2 X 50 AA approximate repeats. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 TACAAGAATAGACCAGATTAT 0.373 NA 6 291 0 0 0.001168 0 0 INSIG2 51141 broad.mit.edu 37 2 118864367 118864367 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:118864367A>G uc002tlk.2 + 4 630 c.424A>G c.(424-426)ATT>GTT p.I142V INSIG2_uc010yye.1_Missense_Mutation_p.I34V|INSIG2_uc002tll.2_Missense_Mutation_p.I34V NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 142 Helical; (Potential). ER-nuclear sterol response pathway SREBP-SCAP-Insig complex ovary(1)|central_nervous_system(1) 2 TGCACTATCCATTGGACTGTG 0.398 NA 45 53 0 0 0.002852 0 0 MARCO 8685 broad.mit.edu 37 2 119739773 119739773 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:119739773G>C uc002tln.1 + 11 1075 c.943G>C c.(943-945)GTG>CTG p.V315L MARCO_uc010yyf.1_Missense_Mutation_p.V237L NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 315 Collagen-like.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TCCTGGTGCAGTGGGACACCC 0.637 GBM(8;18 374 7467 11269 32796) NA 27 34 0 0 0.004656 0 0 FAM123C 205147 broad.mit.edu 37 2 131520777 131520777 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:131520777G>T uc002trw.2 + 2 1322 c.1132G>T c.(1132-1134)GAA>TAA p.E378* FAM123C_uc010fmv.2_Nonsense_Mutation_p.E378*|FAM123C_uc010fms.1_Nonsense_Mutation_p.E378*|FAM123C_uc010fmt.1_Nonsense_Mutation_p.E378*|FAM123C_uc010fmu.1_Nonsense_Mutation_p.E378* NM_152698 NP_689911 Q8N944 F123C_HUMAN hypothetical protein LOC205147 378 pancreas(2)|ovary(1) 3 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) CGAGCAGCCCGAATCCGTGTC 0.637 NA 16 23 6.49762e-13 8.66349e-13 0.006122 1 0 R3HDM1 23518 broad.mit.edu 37 2 136362452 136362452 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:136362452A>T uc002tuo.2 + 3 407 c.37A>T c.(37-39)ACT>TCT p.T13S R3HDM1_uc010fni.2_Missense_Mutation_p.T11S|R3HDM1_uc002tup.2_Intron NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 13 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) AAAAGATGAAACTGCAACAAT 0.333 NA 25 33 0 0 0.00333 0 0 ARHGAP15 55843 broad.mit.edu 37 2 143913138 143913138 + Nonsense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:143913138A>T uc002tvm.3 + 2 230 c.79A>T c.(79-81)AGA>TGA p.R27* ARHGAP15_uc010zbl.1_Nonsense_Mutation_p.R27* NM_018460 NP_060930 Q53QZ3 RHG15_HUMAN ARHGAP15 27 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.151) TGTGCAAATGAGAATCAAAAA 0.438 NA 13 26 0 0 0.00245 0 0 NEB 4703 broad.mit.edu 37 2 152466583 152466584 + Missense_Mutation DNP GG GG TT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:152466583_152466584GG>TT uc010fnx.2 - 77 11531_11532 c.11340_11341CC>AA c.(11338-11343)GCCCAG>GCAAAG p.Q3781K NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3781 Nebulin 104. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TCAATGCTCTGGGCTCCAATGT 0.406 NA 23 19 0 0 0.004672 0 0 NEB 4703 broad.mit.edu 37 2 152470891 152470891 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:152470891C>A uc010fnx.2 - 73 10962 c.10771G>T c.(10771-10773)GTA>TTA p.V3591L NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3591 Nebulin 98. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) ATGTCGCTTACAAGGATCTGA 0.527 NA 105 120 4.60726e-43 7.33126e-43 0.00361 1 0 CYTIP 9595 broad.mit.edu 37 2 158300456 158300456 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:158300456G>C uc002tzj.1 - 1 149 c.77C>G c.(76-78)TCT>TGT p.S26C CYTIP_uc010zcl.1_Intron NM_004288 NP_004279 O60759 CYTIP_HUMAN cytohesin 1 interacting protein 26 regulation of cell adhesion cell cortex|early endosome protein binding ovary(1)|kidney(1)|skin(1) 3 TGTGGAGTAAGAGCTATACGC 0.507 NA 9 90 0 0 0.006214 0 0 SCN1A 6323 broad.mit.edu 37 2 166856287 166856287 + Splice_Site SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:166856287C>A uc010zcz.1 - 22 4270 c.4252_splice c.e22-1 p.A1418_splice SCN1A_uc002udo.3_Splice_Site_p.A1298_splice|SCN1A_uc010fpk.2_Splice_Site_p.A1270_splice NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TGAATGTGGCCTATTAAGAAG 0.289 NA 40 61 4.32679e-17 6.14489e-17 0.006999 1 0 SCN1A 6323 broad.mit.edu 37 2 166901716 166901716 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:166901716C>T uc010zcz.1 - 10 1517 c.1499G>A c.(1498-1500)CGG>CAG p.R500Q SCN1A_uc002udo.3_Missense_Mutation_p.R369Q|SCN1A_uc010fpk.2_Missense_Mutation_p.R369Q NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 500 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) TTTCTTCCTCCGATTTCTTCT 0.463 NA 25 178 0 0 0.00333 0 0 SCN9A 6335 broad.mit.edu 37 2 167055686 167055686 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:167055686G>C uc010fpl.2 - 27 5771 c.5430C>G c.(5428-5430)GTC>GTG p.V1810V uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 1821 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CAATGAGCTGGACTTTGTTGG 0.468 NA 29 149 0 0 0.008361 0 0 XIRP2 129446 broad.mit.edu 37 2 168105070 168105070 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:168105070G>A uc002udx.2 + 8 7186 c.7168G>A c.(7168-7170)GGA>AGA p.G2390R XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.G2215R|XIRP2_uc010fpq.2_Missense_Mutation_p.G2168R|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2215 actin cytoskeleton organization cell junction actin binding p.G2390E(1) skin(7)|ovary(6)|pancreas(1) 14 AAAGCACAGTGGAGACTTCAT 0.478 NA 38 62 0 0 0.005524 0 0 DLX1 1745 broad.mit.edu 37 2 172952791 172952791 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:172952791G>C uc002uhl.2 + 3 772 c.574G>C c.(574-576)GCG>CCG p.A192P DLX1_uc002uhm.2_Missense_Mutation_p.G125A NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 192 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) GCAGGGTGGGGCGGCTCTGGA 0.612 NA 63 72 0 0 0.00361 0 0 PDK1 5163 broad.mit.edu 37 2 173435551 173435551 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:173435551A>T uc002uhr.2 + 8 1044 c.944A>T c.(943-945)AAG>ATG p.K315M PDK1_uc010zdz.1_Missense_Mutation_p.K160M|PDK1_uc010zea.1_RNA|PDK1_uc002uhq.1_Missense_Mutation_p.K335M|PDK1_uc002uhs.2_Missense_Mutation_p.K315M|PDK1_uc010zeb.1_Missense_Mutation_p.K335M NM_002610 NP_002601 Q15118 PDK1_HUMAN pyruvate dehydrogenase kinase 1 precursor 315 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity lung(3)|central_nervous_system(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.12) TTGACTGTGAAGGTAAATGTG 0.368 NA Autosomal_Dominant_Polycystic_Kidney_Disease 19 20 0 0 0.006122 0 0 CDCA7 83879 broad.mit.edu 37 2 174228182 174228182 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:174228182A>C uc002uid.1 + 3 507 c.376A>C c.(376-378)AAA>CAA p.K126Q CDCA7_uc002uic.1_Missense_Mutation_p.K205Q|CDCA7_uc010zej.1_Missense_Mutation_p.K161Q|CDCA7_uc010zek.1_Missense_Mutation_p.K84Q NM_145810 NP_665809 Q9BWT1 CDCA7_HUMAN cell division cycle associated 7 isoform 2 126 regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.116) AAAGCAAAACAAAGCAATGGT 0.348 NA 24 44 0 0 0.003954 0 0 HOXD12 3238 broad.mit.edu 37 2 176964621 176964621 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:176964621C>G uc010zev.1 + 1 92 c.92C>G c.(91-93)CCG>CGG p.P31R HOXD12_uc010zew.1_Missense_Mutation_p.P31R NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 31 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) AACCTGAGGCCGAATGGCGGC 0.667 NA 13 61 0 0 0.00245 0 0 TTN 7273 broad.mit.edu 37 2 179391982 179391982 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:179391982G>C uc010zfg.1 - 312 100253 c.100029C>G c.(100027-100029)GGC>GGG p.G33343G uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.G27038G|TTN_uc010zfi.1_Silent_p.G26971G|TTN_uc010zfj.1_Silent_p.G26846G|TTN_uc002umq.2_Silent_p.G259G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 34270 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAGAACTTTGCCTTCATCAA 0.418 NA 3 26 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179467007 179467007 + Splice_Site SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:179467007A>G uc010zfg.1 - 232 47640 c.47416_splice c.e232+1 p.E15806_splice uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Splice_Site_p.E9501_splice|TTN_uc010zfi.1_Splice_Site_p.E9434_splice|TTN_uc010zfj.1_Splice_Site_p.E9309_splice NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAGTACTAGTACCTTGAATAT 0.348 NA 5 83 0 0 0.000602 0 0 TTN 7273 broad.mit.edu 37 2 179641663 179641663 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:179641663C>A uc010zfg.1 - 28 5152 c.4928G>T c.(4927-4929)TGC>TTC p.C1643F TTN_uc010zfh.1_Missense_Mutation_p.C1597F|TTN_uc010zfi.1_Missense_Mutation_p.C1597F|TTN_uc010zfj.1_Missense_Mutation_p.C1597F|TTN_uc002unb.2_Missense_Mutation_p.C1643F|uc002unc.1_RNA NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1643 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTACTTTGCATCTTGTAGT 0.458 NA 22 23 8.10497e-08 9.72151e-08 0.010504 1 0 C2orf67 151050 broad.mit.edu 37 2 210968932 210968932 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:210968932C>A uc002vds.2 - 4 1532 c.1324G>T c.(1324-1326)GGG>TGG p.G442W C2orf67_uc002vdt.2_Missense_Mutation_p.G442W|C2orf67_uc002vdw.2_Missense_Mutation_p.G442W|C2orf67_uc002vdv.2_Missense_Mutation_p.G442W|C2orf67_uc002vdx.1_Missense_Mutation_p.G442W NM_152519 NP_689732 A0AUZ9 CB067_HUMAN hypothetical protein LOC151050 442 ovary(3) 3 Renal(323;0.202) Epithelial(149;0.00435)|Lung(261;0.0529)|LUSC - Lung squamous cell carcinoma(261;0.0551)|all cancers(144;0.0696) TGAGGATTCCCTAGAATGTTT 0.413 NA 15 28 3.27435e-08 3.94915e-08 0.00245 1 0 CPS1 1373 broad.mit.edu 37 2 211542680 211542680 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:211542680A>G uc002vee.3 + 38 4606 c.4474A>G c.(4474-4476)AGG>GGG p.R1492G CPS1_uc010fur.2_Missense_Mutation_p.R1498G|CPS1_uc010fus.2_Missense_Mutation_p.R1041G NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1492 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TTTCCACTACAGGCAGTACAG 0.443 NA 24 207 0 0 0.00333 0 0 CXCR2P1 3580 broad.mit.edu 37 2 218925443 218925443 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:218925443G>C uc002vgx.2 - 1 571 c.278C>G c.(277-279)CCC>CGC p.P93R RUFY4_uc002vgw.2_Intron NR_002712 Homo sapiens interleukin 8 receptor, beta pseudogene, mRNA (cDNA clone IMAGE:5450999), with apparent retained intron. 0 GCGTATGCAGGGTGAATCTGT 0.532 NA 17 64 0 0 0.004007 0 0 SPEG 10290 broad.mit.edu 37 2 220355136 220355136 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:220355136G>C uc010fwg.2 + 37 8927 c.8927G>C c.(8926-8928)CGC>CCC p.R2976P NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2976 ATP (By similarity).|Protein kinase 2. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) CACAGGGGCCGCTTTGGTGTT 0.652 NA 14 26 0 0 0.004007 0 0 OBSL1 23363 broad.mit.edu 37 2 220424202 220424202 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:220424202T>A uc010fwk.2 - 9 3028 c.2971A>T c.(2971-2973)ATA>TTA p.I991L OBSL1_uc002vmh.1_5'UTR|OBSL1_uc010zli.1_5'UTR|OBSL1_uc010fwl.1_Missense_Mutation_p.I466L NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 991 Ig-like 8. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) CGAGGGTATATGATCCGCACT 0.582 NA OREG0003986 type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 42 54 0 0 0.009718 0 0 TRIP12 9320 broad.mit.edu 37 2 230667127 230667127 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:230667127G>A uc002vpw.1 - 20 2931 c.2822C>T c.(2821-2823)ACA>ATA p.T941I TRIP12_uc002vpx.1_Missense_Mutation_p.T989I|TRIP12_uc002vpy.1_Missense_Mutation_p.T671I|TRIP12_uc010zlz.1_Intron NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 941 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TGGTGGACTTGTCAACAAAGA 0.453 NA 37 56 0 0 0.005524 0 0 SP110 3431 broad.mit.edu 37 2 231067407 231067407 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:231067407G>C uc002vqh.3 - 9 1176 c.936C>G c.(934-936)CTC>CTG p.L312L SP110_uc002vqg.3_Silent_p.L312L|SP110_uc002vqi.3_Silent_p.L312L|SP110_uc010fxk.2_Silent_p.L310L|SP110_uc010fxj.2_Intron NM_004509 NP_004500 Q9HB58 SP110_HUMAN SP110 nuclear body protein isoform a 312 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|signal transducer activity|zinc ion binding ovary(2)|breast(2) 4 Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169) Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097) CCACCCTTTTGAGCTTCTTTT 0.458 NA 7 141 0 0 0.006214 0 0 NGEF 25791 broad.mit.edu 37 2 233745956 233745956 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:233745956G>T uc002vts.2 - 14 2090 c.1842C>A c.(1840-1842)TGC>TGA p.C614* NGEF_uc010zmm.1_Nonsense_Mutation_p.C337*|NGEF_uc010fyg.1_Nonsense_Mutation_p.C522* NM_019850 NP_062824 Q8N5V2 NGEF_HUMAN neuronal guanine nucleotide exchange factor 614 SH3. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|growth cone|plasma membrane Rho guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3)|skin(1) 7 Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604) GGACCTGGGGGCAGTCTGAGG 0.627 NA 17 50 6.94344e-10 8.7749e-10 0.006122 1 0 STK35 140901 broad.mit.edu 37 20 2097734 2097734 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:2097734G>T uc010gak.2 + 3 1315 c.1315G>T c.(1315-1317)GCC>TCC p.A439S STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Missense_Mutation_p.A306S NM_080836 NP_543026 Q8TDR2 STK35_HUMAN serine/threonine kinase 35 439 Protein kinase. cytoplasm|nucleolus ATP binding|protein serine/threonine kinase activity ovary(1) 1 GGACATCTTTGCCCTGGGCAT 0.498 NA 41 56 1.47197e-15 2.04063e-15 0.007835 1 0 CPXM1 56265 broad.mit.edu 37 20 2776685 2776685 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:2776685G>T uc002wgu.2 - 10 1429 c.1365C>A c.(1363-1365)CAC>CAA p.H455Q CPXM1_uc010gas.2_Missense_Mutation_p.H455Q NM_019609 NP_062555 Q96SM3 CPXM1_HUMAN carboxypeptidase X, member 1 precursor 455 cell adhesion|proteolysis metallocarboxypeptidase activity|zinc ion binding ovary(2)|skin(2) 4 TGGGGACGATGTGGGGCACCT 0.577 NA 25 75 7.92952e-12 1.03666e-11 0.003954 1 0 RASSF2 9770 broad.mit.edu 37 20 4776565 4776565 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:4776565G>T uc002wld.2 - 4 237 c.183C>A c.(181-183)GGC>GGA p.G61G RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Silent_p.G61G NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 61 cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 GCCGGCGCAGGCCCCAGGAGA 0.592 Melanoma(158;1891 3343 50738) NA 19 60 1.56452e-12 2.07335e-12 0.007413 1 0 PLCB4 5332 broad.mit.edu 37 20 9360751 9360751 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:9360751C>T uc002wnf.2 + 12 931 c.795C>T c.(793-795)GCC>GCT p.A265A PLCB4_uc010gbw.1_Silent_p.A265A|PLCB4_uc010gbx.2_Silent_p.A265A|PLCB4_uc002wne.2_Silent_p.A265A|PLCB4_uc002wnh.2_Silent_p.A112A NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 265 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 TTTATGATGCCAAAAGGGCAA 0.308 NA 15 36 0 0 0.00499 0 0 RALGAPA2 57186 broad.mit.edu 37 20 20610186 20610186 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:20610186C>A uc002wrz.2 - 10 1197 c.1054G>T c.(1054-1056)GGT>TGT p.G352C RALGAPA2_uc010gcx.2_Missense_Mutation_p.G56C|RALGAPA2_uc010zsg.1_5'UTR NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 352 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GTGGGCCCACCACCATCCAGC 0.552 NA 36 61 1.06647e-15 1.48557e-15 0.003755 1 0 NINL 22981 broad.mit.edu 37 20 25507047 25507047 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:25507047G>A uc002wux.1 - 2 251 c.177C>T c.(175-177)GCC>GCT p.A59A NINL_uc010gdn.1_Silent_p.A59A|NINL_uc010gdo.1_5'UTR|NINL_uc010ztf.1_Silent_p.A75A NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 59 EF-hand 2. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 CACTCACCCTGGCGAAATGGT 0.512 NA 70 144 0 0 0.00361 0 0 ZNF337 26152 broad.mit.edu 37 20 25657370 25657370 + Missense_Mutation SNP C C G rs140373318 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:25657370C>G uc002wva.2 - 4 1076 c.554G>C c.(553-555)CGT>CCT p.R185P uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.R153P|ZNF337_uc002wvb.2_Missense_Mutation_p.R185P|ZNF337_uc002wvc.2_Missense_Mutation_p.R185P NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 185 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GTCTTGCCCACGCTCTGCACA 0.428 NA 42 167 0 0 0.00874 0 0 C20orf186 149954 broad.mit.edu 37 20 31692679 31692679 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:31692679G>T uc010zue.1 + 14 1759 c.1744G>T c.(1744-1746)GCT>TCT p.A582S NM_182519 NP_872325 P59827 LPLC4_HUMAN antimicrobial peptide RY2G5 precursor 582 cytoplasm|extracellular region lipid binding 0 CGCAATGAACGGTGAGAGCGG 0.567 NA 28 45 3.73988e-18 5.33744e-18 0.00632 1 0 ERGIC3 51614 broad.mit.edu 37 20 34135189 34135189 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:34135189T>C uc002xct.2 + 5 463 c.394T>C c.(394-396)TTT>CTT p.F132L ERGIC3_uc002xcr.1_Missense_Mutation_p.F132L|ERGIC3_uc010zvg.1_Missense_Mutation_p.F132L|ERGIC3_uc002xcs.2_Missense_Mutation_p.F132L|ERGIC3_uc002xcu.2_Missense_Mutation_p.F132L|ERGIC3_uc002xcv.2_Missense_Mutation_p.F95L NM_015966 NP_057050 Q9Y282 ERGI3_HUMAN serologically defined breast cancer antigen 84 132 Lumenal (Potential). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane protein binding large_intestine(2)|ovary(1) 3 Lung NSC(9;0.00489)|all_lung(11;0.00729) BRCA - Breast invasive adenocarcinoma(18;0.0127) GGTGACGGTGTTTGACCCTGA 0.592 NA 17 56 0 0 0.006122 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060244 35060244 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:35060244C>T uc002xff.2 + 3 559 c.124C>T c.(124-126)CGC>TGC p.R42C DLGAP4_uc010zvp.1_Missense_Mutation_p.R42C NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 42 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GGCCTTCGCCCGCGAGGCCCG 0.697 NA 20 35 0 0 0.010504 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060397 35060397 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:35060397C>A uc002xff.2 + 3 712 c.277C>A c.(277-279)CAA>AAA p.Q93K DLGAP4_uc010zvp.1_Missense_Mutation_p.Q93K NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 93 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CAGCCATGCCCAAGCCACCAA 0.627 NA 12 79 0.00010058 0.00011102 0.001368 1 0 TGM2 7052 broad.mit.edu 37 20 36779382 36779382 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:36779382A>G uc002xhr.2 - 4 611 c.511T>C c.(511-513)TCG>CCG p.S171P TGM2_uc010zvx.1_Missense_Mutation_p.S90P|TGM2_uc010zvy.1_Missense_Mutation_p.S111P|TGM2_uc002xhs.1_Missense_Mutation_p.S147P|TGM2_uc002xht.2_Missense_Mutation_p.S171P|TGM2_uc002xhu.3_Missense_Mutation_p.S171P NM_004613 NP_004604 P21980 TGM2_HUMAN transglutaminase 2 isoform a 171 apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity large_intestine(1)|lung(1)|ovary(1) 3 Myeloproliferative disorder(115;0.00878) L-Glutamine(DB00130) AACTTGGCCGAGCCCTGGTAG 0.582 NA 14 148 0 0 0.00245 0 0 PTPRT 11122 broad.mit.edu 37 20 40714370 40714370 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:40714370G>A uc002xkg.2 - 28 4154 c.3970C>T c.(3970-3972)CGG>TGG p.R1324W PTPRT_uc010ggj.2_Missense_Mutation_p.R1343W|PTPRT_uc010ggi.2_Missense_Mutation_p.R527W NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1324 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. R -> L (in a lung cancer; reduced phosphatase activity). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTACTTACCCGGGCCATGTTA 0.592 NA 19 66 0 0 0.008871 0 0 L3MBTL 26013 broad.mit.edu 37 20 42143696 42143696 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:42143696G>C uc010zwh.1 + 5 530 c.484G>C c.(484-486)GAG>CAG p.E162Q L3MBTL_uc010ggk.1_Missense_Mutation_p.E94Q|L3MBTL_uc002xkl.2_Missense_Mutation_p.E94Q|L3MBTL_uc002xkm.2_Missense_Mutation_p.E94Q|L3MBTL_uc010ggl.2_Missense_Mutation_p.E94Q NM_015478 NP_056293 Q9Y468 LMBL1_HUMAN l(3)mbt-like isoform I 94 chromatin modification|hemopoiesis|negative regulation of transcription, DNA-dependent|regulation of megakaryocyte differentiation|regulation of mitosis chromatin|condensed chromosome|nucleoplasm identical protein binding|methylated histone residue binding|nucleosomal histone binding|SAM domain binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) GGACCCCCCAGAGGATGATAG 0.627 NA 8 46 0 0 0.00308 0 0 NCOA3 8202 broad.mit.edu 37 20 46275899 46275899 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:46275899G>T uc002xtk.2 + 18 3540 c.3335G>T c.(3334-3336)GGA>GTA p.G1112V NCOA3_uc010ght.1_Missense_Mutation_p.G1107V|NCOA3_uc002xtl.2_Missense_Mutation_p.G1112V|NCOA3_uc002xtm.2_Missense_Mutation_p.G1112V|NCOA3_uc002xtn.2_Missense_Mutation_p.G1112V|NCOA3_uc010zyc.1_Missense_Mutation_p.G907V NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 1112 Acetyltransferase. 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 GGATTATATGGACAGACATAC 0.453 NA 28 47 1.32143e-28 2.02868e-28 0.00632 1 0 DDX27 55661 broad.mit.edu 37 20 47838011 47838011 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:47838011G>A uc002xuh.2 + 2 270 c.209G>A c.(208-210)CGA>CAA p.R70Q NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 70 Asp/Glu/Lys-rich. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTGGGCAGACGACAAAAAGCT 0.478 NA 10 38 0 0 0.008291 0 0 TSHZ2 128553 broad.mit.edu 37 20 51872088 51872088 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:51872088C>A uc002xwo.2 + 2 3047 c.2091C>A c.(2089-2091)GCC>GCA p.A697A NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 697 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CACTCAGCGCCCTGCAGTCCG 0.612 NA 5 73 0.00198382 0.00212517 0.001984 1 0 C20orf85 128602 broad.mit.edu 37 20 56728613 56728613 + Nonsense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:56728613A>T uc002xyv.2 + 2 120 c.82A>T c.(82-84)AAG>TAG p.K28* NM_178456 NP_848551 Q9H1P6 CT085_HUMAN hypothetical protein LOC128602 28 ovary(1) 1 all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118) BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07) ATACCGTCTGAAGGCTGAATC 0.478 NA 5 163 0 0 0.001168 0 0 GNAS 2778 broad.mit.edu 37 20 57415891 57415891 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:57415891C>G uc002xzt.2 + 1 1097 c.730C>G c.(730-732)CGT>GGT p.R244G GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CCCCATCCGGCGTCACTAATG 0.612 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 4 31 0 0 0.009096 0 0 ZNF831 128611 broad.mit.edu 37 20 57768489 57768489 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:57768489C>A uc002yan.2 + 1 2415 c.2415C>A c.(2413-2415)GTC>GTA p.V805V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 805 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) CCCAGACTGTCCTGAGATGGC 0.627 NA 27 16 3.73808e-20 5.45085e-20 0.005443 1 0 ZNF831 128611 broad.mit.edu 37 20 57829259 57829259 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:57829259G>T uc002yan.2 + 5 4495 c.4495G>T c.(4495-4497)GTG>TTG p.V1499L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1499 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TTCTCTGCCAGTGAGAACAGA 0.507 NA 51 76 7.84493e-40 1.24378e-39 0.00361 1 0 PPP1R3D 5509 broad.mit.edu 37 20 58514485 58514485 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:58514485A>C uc002ybb.2 - 1 868 c.502T>G c.(502-504)TTT>GTT p.F168V C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 168 glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CGCTCGCCAAAGTCGGCGGCC 0.662 NA 5 24 0 0 0.000602 0 0 CHRNA4 1137 broad.mit.edu 37 20 61978135 61978135 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:61978135C>T uc002yes.2 - 6 2017 c.1839G>A c.(1837-1839)GGG>GGA p.G613G CHRNA4_uc002yet.1_Silent_p.G437G|CHRNA4_uc011aaw.1_RNA|CHRNA4_uc010gke.1_Silent_p.G542G|CHRNA4_uc002yev.1_Silent_p.G437G|CHRNA4_uc010gkf.1_Silent_p.G437G NM_000744 NP_000735 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 subunit 613 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(1)|skin(1) 2 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GGCCCACCGTCCCCAGCAGGC 0.647 NA 33 31 0 0 0.009535 0 0 SRMS 6725 broad.mit.edu 37 20 62172184 62172184 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:62172184C>A uc002yfi.1 - 8 1495 c.1454G>T c.(1453-1455)AGA>ATA p.R485I NM_080823 NP_543013 Q9H3Y6 SRMS_HUMAN src-related kinase lacking C-terminal regulatory 485 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(1)|lung(1) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) GGGGTGGCATCTGTGGATGGC 0.682 NA 19 114 1.56452e-12 2.07335e-12 0.007413 1 0 MYT1 4661 broad.mit.edu 37 20 62839102 62839102 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:62839102G>T uc002yii.2 + 7 917 c.553G>T c.(553-555)GGC>TGC p.G185C MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 185 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AGAGGACTTGGGCCAGGCGGC 0.592 GBM(59;481 1041 20555 21139 33705) NA 16 80 3.41278e-10 4.3255e-10 0.00499 1 0 PCMTD2 55251 broad.mit.edu 37 20 62904645 62904645 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:62904645C>G uc002yil.3 + 6 978 c.778C>G c.(778-780)CAT>GAT p.H260D PCMTD2_uc002yim.3_Missense_Mutation_p.H233D NM_018257 NP_060727 Q9NV79 PCMD2_HUMAN protein-L-isoaspartate (D-aspartate) 260 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AAAGATTATTCATCAGGAAAC 0.502 NA 20 107 0 0 0.008871 0 0 TPTE 7179 broad.mit.edu 37 21 10910351 10910351 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:10910351C>G uc002yip.1 - 22 1773 c.1405G>C c.(1405-1407)GGT>CGT p.G469R TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.G451R|TPTE_uc002yir.1_Missense_Mutation_p.G431R|TPTE_uc010gkv.1_Missense_Mutation_p.G331R NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 469 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) AGAGGTAGACCGTCGAATACA 0.338 NA 13 101 0 0 0.00245 0 0 GRIK1 2897 broad.mit.edu 37 21 30961211 30961211 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:30961211G>T uc002yno.1 - 11 1981 c.1517C>A c.(1516-1518)GCC>GAC p.A506D GRIK1_uc002ynn.2_Missense_Mutation_p.A491D|GRIK1_uc011acs.1_Missense_Mutation_p.A506D|GRIK1_uc011act.1_Intron|GRIK1_uc010glq.1_Missense_Mutation_p.A349D NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 506 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GTCATTCTGGGCCCCATATTT 0.378 NA 43 94 1.97e-11 2.54118e-11 0.002522 1 0 GRIK1 2897 broad.mit.edu 37 21 31045363 31045363 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:31045363G>C uc002yno.1 - 4 1130 c.666C>G c.(664-666)GGC>GGG p.G222G GRIK1_uc002ynn.2_Silent_p.G222G|GRIK1_uc011acs.1_Silent_p.G222G|GRIK1_uc011act.1_Silent_p.G166G|GRIK1_uc010glq.1_Silent_p.G80G|GRIK1_uc002ynr.2_Silent_p.G222G NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 222 Extracellular (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AGAACTCCTTGCCTTTCTTCA 0.438 NA 12 256 0 0 0.000978 0 0 KRTAP6-3 337968 broad.mit.edu 37 21 31964947 31964947 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:31964947G>A uc002yom.2 + 1 189 c.183G>A c.(181-183)CTG>CTA p.L61L NM_181605 NP_853636 keratin associated protein 6-3 0 atggaggcctgggctgtggct 0.075 NA 25 26 0 0 0.00632 0 0 MRAP 56246 broad.mit.edu 37 21 33671311 33671312 + Missense_Mutation DNP CA CA AT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:33671311_33671312CA>AT uc002ypj.2 + 3 216_217 c.29_30CA>AT c.(28-30)CCA>CAT p.P10H MRAP_uc002ypk.2_Missense_Mutation_p.P10H|MRAP_uc011ado.1_Intron|MRAP_uc002ypl.2_Missense_Mutation_p.P10H NM_178817 NP_848932 Q8TCY5 MRAP_HUMAN melanocortin 2 receptor accessory protein 10 Cytoplasmic (Potential). positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding 0 GCCTCTGCCCCATACTACAGCT 0.609 NA 19 45 0 0 0.004672 0 0 DOPEY2 9980 broad.mit.edu 37 21 37572692 37572692 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:37572692G>A uc002yvg.2 + 4 463 c.384G>A c.(382-384)CTG>CTA p.L128L DOPEY2_uc011aeb.1_Silent_p.L128L NM_005128 NP_005119 Q9Y3R5 DOP2_HUMAN pad-1-like 128 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane ovary(1)|central_nervous_system(1) 2 TGCTCACCCTGTACGAGAAGT 0.612 NA 11 78 0 0 0.000978 0 0 RIPK4 54101 broad.mit.edu 37 21 43161678 43161678 + Nonsense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:43161678G>A uc002yzn.1 - 8 1723 c.1675C>T c.(1675-1677)CGA>TGA p.R559* NM_020639 NP_065690 P57078 RIPK4_HUMAN ankyrin repeat domain 3 559 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 7 TCCACGCCTCGGCGCAGCAGG 0.662 NA 5 37 0 0 0.000602 0 0 UBASH3A 53347 broad.mit.edu 37 21 43857644 43857644 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:43857644C>T uc002zbe.2 + 11 1476 c.1440C>T c.(1438-1440)GCC>GCT p.A480A UBASH3A_uc002zbf.2_Silent_p.A442A|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_Intron|UBASH3A_uc010gpe.2_Silent_p.A442A NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 480 Phosphatase-like. cytosol|nucleus ovary(3) 3 CTGTGTTTGCCTCCCCAGCCC 0.527 NA 19 60 0 0 0.002299 0 0 SIK1 150094 broad.mit.edu 37 21 44845963 44845963 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr21:44845963G>T uc002zdf.2 - 2 223 c.96C>A c.(94-96)ACC>ACA p.T32T NM_173354 NP_775490 P57059 SIK1_HUMAN salt-inducible kinase 1 32 Protein kinase. anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(2)|testis(2)|ovary(1)|central_nervous_system(1)|skin(1) 7 CTTTGCCCAGGGTCCGCTCGA 0.682 NA 3 11 0.004672 0.00497434 0.004672 1 0 PI4KAP2 375133 broad.mit.edu 37 22 21829507 21829507 + Missense_Mutation SNP G G A rs140118179 by1000genomes TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr22:21829507G>A uc002zuv.3 - 14 3895 c.1636C>T c.(1636-1638)CTC>TTC p.L546F PI4KAP2_uc002zuw.2_Intron|PI4KAP2_uc011aid.1_Intron SubName: Full=Putative uncharacterized protein PI4KA; 0 TACTTCAAGAGCTTGATTGTC 0.542 NA 3 7 0 0 0.009096 0 0 APOL4 80832 broad.mit.edu 37 22 36587462 36587462 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr22:36587462G>T uc003aox.2 - 6 942 c.717C>A c.(715-717)GCC>GCA p.A239A APOL4_uc003aow.2_Silent_p.A236A|APOL4_uc010gww.2_Silent_p.A81A NM_145660 NP_663693 Q9BPW4 APOL4_HUMAN apolipoprotein L4 isoform 2 precursor 239 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding 0 TCATTTTTGTGGCTTCGTCAA 0.448 NA 9 35 1.5739e-10 2.00649e-10 0.004007 1 0 ENTHD1 150350 broad.mit.edu 37 22 40283671 40283671 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr22:40283671C>A uc003ayg.2 - 2 333 c.82G>T c.(82-84)GAC>TAC p.D28Y NM_152512 NP_689725 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 28 ENTH. ovary(2)|skin(1) 3 Melanoma(58;0.0749) CCCCAAGGGTCGTTAGAAGTT 0.393 NA 26 34 5.49717e-05 6.122e-05 0.00333 1 0 CPNE9 151835 broad.mit.edu 37 3 9768831 9768831 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:9768831G>T uc003bsd.2 + 19 1608 c.1437G>T c.(1435-1437)GTG>GTT p.V479V NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 479 VWFA. ovary(2) 2 Medulloblastoma(99;0.227) ATGTGCGCGTGTCCTCTAGGG 0.597 NA 23 85 2.48779e-11 3.19493e-11 0.005443 1 0 CAND2 23066 broad.mit.edu 37 3 12856744 12856745 + Missense_Mutation DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:12856744_12856745CC>AA uc003bxk.2 + 8 1160_1161 c.1111_1112CC>AA c.(1111-1113)CCC>AAC p.P371N CAND2_uc003bxj.2_Missense_Mutation_p.P278N NM_001162499 NP_001155971 O75155 CAND2_HUMAN TBP-interacting protein isoform 1 371 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding skin(3)|pancreas(1) 4 TGACCTGCTGCCCGATTTCCAC 0.594 GBM(43;676 868 1633 6395 37496) NA 39 29 0 0 0.004672 0 0 IQSEC1 9922 broad.mit.edu 37 3 12983333 12983333 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:12983333C>A uc003bxt.2 - 2 107 c.98G>T c.(97-99)GGC>GTC p.G33V IQSEC1_uc003bxu.3_5'UTR|IQSEC1_uc011auw.1_Missense_Mutation_p.G19V NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 33 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 CAGGGATGTGCCAGTCTCACT 0.647 NA 10 8 1.58986e-06 1.84112e-06 0.008291 1 0 CLASP2 23122 broad.mit.edu 37 3 33626403 33626403 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:33626403C>A uc003cfu.2 - 22 2432 c.2078G>T c.(2077-2079)CGG>CTG p.R693L CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.R286L NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 694 ovary(3)|central_nervous_system(1) 4 AGACCCAGACCGGCTACCAGC 0.418 NA 26 31 4.7796e-09 5.90342e-09 0.004656 1 0 DCLK3 85443 broad.mit.edu 37 3 36779284 36779284 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:36779284C>A uc003cgi.2 - 2 1358 c.867G>T c.(865-867)AGG>AGT p.R289S NM_033403 NP_208382 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 289 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity lung(3)|large_intestine(2)|breast(1)|skin(1)|ovary(1)|kidney(1) 9 CTCCTCGGGTCCTGCGGAGCT 0.557 NA 80 87 5.98988e-27 9.11549e-27 0.00361 1 0 CX3CR1 1524 broad.mit.edu 37 3 39307550 39307550 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:39307550G>C uc003cjl.2 - 2 543 c.451C>G c.(451-453)CTA>GTA p.L151V NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 151 Helical; Name=4; (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) CAGACGCCTAGGCTGATGGTG 0.547 NA 7 103 0 0 0.001984 0 0 CX3CR1 1524 broad.mit.edu 37 3 39307625 39307625 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:39307625C>A uc003cjl.2 - 2 468 c.376G>T c.(376-378)GAT>TAT p.D126Y NM_001337 NP_001328 P49238 CX3C1_HUMAN chemokine (C-X3-C motif) receptor 1 126 Cytoplasmic (Potential). cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding integral to plasma membrane chemokine receptor activity lung(3) 3 KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699) AGGTACCTATCAATGCTGATG 0.517 NA 44 43 3.54909e-21 5.2189e-21 0.002852 1 0 ANO10 55129 broad.mit.edu 37 3 43618386 43618386 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:43618386T>A uc003cmv.2 - 6 1131 c.960A>T c.(958-960)CCA>CCT p.P320P ANO10_uc011azs.1_Silent_p.P320P|ANO10_uc003cmw.2_Silent_p.P254P|ANO10_uc010hil.2_Intron|ANO10_uc011azt.1_Silent_p.P209P NM_018075 NP_060545 Q9NW15 ANO10_HUMAN transmembrane protein 16K 320 Helical; (Potential). cell death chloride channel complex chloride channel activity ovary(2) 2 GGCACACGAATGGCAGGGAGA 0.498 NA 26 35 0 0 0.004656 0 0 RAD54L2 23132 broad.mit.edu 37 3 51696623 51696624 + Missense_Mutation DNP CA CA AC TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:51696623_51696624CA>AC uc011bdt.1 + 22 3716_3717 c.3591_3592CA>AC c.(3589-3594)AGCACC>AGACCC p.1197_1198ST>RP RAD54L2_uc003dbh.2_Missense_Mutation_p.786_787ST>RP|RAD54L2_uc011bdu.1_Missense_Mutation_p.891_892ST>RP|RAD54L2_uc003dbj.2_Missense_Mutation_p.523_524ST>RP NM_015106 NP_055921 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 1197_1198 nucleus ATP binding|DNA binding|helicase activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) GCTCCCCAAGCACCAATGCCGC 0.629 NA 7 51 0 0 0.004672 0 0 DUSP7 1849 broad.mit.edu 37 3 52088240 52088240 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:52088240C>T uc003dct.2 - 2 747 c.668G>A c.(667-669)CGA>CAA p.R223Q DUSP7_uc010hma.2_Missense_Mutation_p.R223Q NM_001947 NP_001938 Q16829 DUS7_HUMAN dual specificity phosphatase 7 223 Ser-rich. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GGGCAGCTCTCGGTCCGACTC 0.677 NA 46 33 0 0 0.009718 0 0 PXK 54899 broad.mit.edu 37 3 58368341 58368341 + Missense_Mutation SNP A A G rs144000489 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:58368341A>G uc003djz.1 + 4 401 c.302A>G c.(301-303)AAC>AGC p.N101S PXK_uc003djx.1_Missense_Mutation_p.N101S|PXK_uc003djy.1_Missense_Mutation_p.N84S|PXK_uc003dka.1_Missense_Mutation_p.N101S|PXK_uc003dkb.1_Missense_Mutation_p.N18S|PXK_uc003dkc.1_Missense_Mutation_p.N84S|PXK_uc011bfe.1_Missense_Mutation_p.N68S|PXK_uc010hnj.1_Missense_Mutation_p.N68S|PXK_uc003dkd.1_Intron|PXK_uc010hnk.1_5'UTR NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 101 Protein kinase.|PX. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AACTATCTCAACGTGATCACA 0.383 NA 9 43 0 0 0.006214 0 0 MAGI1 9223 broad.mit.edu 37 3 65367627 65367627 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:65367627C>G uc003dmn.2 - 16 3152 c.2626G>C c.(2626-2628)GTG>CTG p.V876L MAGI1_uc003dmm.2_Missense_Mutation_p.V904L|MAGI1_uc003dmo.2_Missense_Mutation_p.V904L|MAGI1_uc003dmp.2_Missense_Mutation_p.V876L|MAGI1_uc003dmq.1_5'Flank|MAGI1_uc010hnx.1_Missense_Mutation_p.V187L NM_001033057 NP_001028229 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ 904 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding lung(2)|skin(1)|breast(1)|kidney(1)|pancreas(1) 6 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) AGCTGGACCACAAGCTGGTGT 0.507 NA 15 39 0 0 0.003163 0 0 EPHA3 2042 broad.mit.edu 37 3 89445102 89445102 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:89445102C>A uc003dqy.2 + 6 1647 c.1422C>A c.(1420-1422)TAC>TAA p.Y474* EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y474*|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 474 Extracellular (Potential).|Fibronectin type-III 2. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AGGTCAAATACTATGAAAAGG 0.438 NA TSP Lung(6;0.00050) 38 55 4.92203e-23 7.33676e-23 0.00623 1 0 OR5AC2 81050 broad.mit.edu 37 3 97806523 97806523 + Silent SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:97806523T>G uc011bgs.1 + 1 507 c.507T>G c.(505-507)ACT>ACG p.T169T NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCGACTAACTTTCTGCAGGT 0.338 NA 5 236 0 0 0.000602 0 0 OR5K2 402135 broad.mit.edu 37 3 98217388 98217388 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:98217388C>A uc011bgx.1 + 1 864 c.864C>A c.(862-864)TTC>TTA p.F288L NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 288 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 TAAATCCTTTCATTTATAGTC 0.308 NA 10 29 1.08611e-07 1.29383e-07 0.000978 1 0 ABI3BP 25890 broad.mit.edu 37 3 100605099 100605099 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:100605099G>T uc003dun.2 - 5 636 c.551C>A c.(550-552)ACT>AAT p.T184N ABI3BP_uc003duo.2_Missense_Mutation_p.T177N|ABI3BP_uc003dup.3_Missense_Mutation_p.T177N NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 184 Fibronectin type-III 1. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 AATTGTTTCAGTGGCTGGACA 0.333 NA 14 28 4.36969e-10 5.53029e-10 0.001855 1 0 RG9MTD1 54931 broad.mit.edu 37 3 101284693 101284693 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:101284693G>T uc003duz.2 + 2 1216 c.1068G>T c.(1066-1068)ATG>ATT p.M356I NM_017819 NP_060289 Q7L0Y3 MRRP1_HUMAN RNA (guanine-9-) methyltransferase domain 356 tRNA processing mitochondrion methyltransferase activity|protein binding ovary(1) 1 TAGATCAAATGATACGTATTT 0.378 Colon(61;905 1056 3196 19548 40505) NA 13 25 2.27111e-07 2.68348e-07 0.001368 1 0 ZBTB11 27107 broad.mit.edu 37 3 101370066 101370066 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:101370066C>A uc003dve.3 - 11 3336 c.3106G>T c.(3106-3108)GCA>TCA p.A1036S NM_014415 NP_055230 O95625 ZBT11_HUMAN zinc finger protein ZNF-U69274 1036 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 ATAGCTTCTGCAACTTCAGAT 0.363 NA 30 54 1.06801e-11 1.38794e-11 0.009535 1 0 MYH15 22989 broad.mit.edu 37 3 108188944 108188944 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:108188944C>A uc003dxa.1 - 15 1616 c.1559G>T c.(1558-1560)TGG>TTG p.W520L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 520 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 AATAGACACCCATTCAATGCT 0.338 NA 25 25 4.7796e-09 5.90342e-09 0.004656 1 0 ZNF80 7634 broad.mit.edu 37 3 113955154 113955154 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:113955154G>A uc010hqo.2 - 1 1272 c.768C>T c.(766-768)TAC>TAT p.Y256Y ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 256 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) AAGCAGAGTGGTAGCCAAAGT 0.408 GBM(23;986 1114 21716) NA 12 81 0 0 0.001368 0 0 ACPP 55 broad.mit.edu 37 3 132056327 132056327 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:132056327C>T uc010htp.2 + 5 574 c.484C>T c.(484-486)CCT>TCT p.P162S ACPP_uc003eon.3_Intron|ACPP_uc003eop.3_Missense_Mutation_p.P162S NM_001099 NP_001090 P15309 PPAP_HUMAN acid phosphatase, prostate short isoform 162 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity ovary(1) 1 CAGGAACTGCCCTCGTTTTCA 0.373 NA 48 62 0 0 0.00361 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133672506 133672506 + Splice_Site SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:133672506C>A uc003eqa.3 - 5 998 c.724_splice c.e5+1 p.A242_splice SLCO2A1_uc003eqb.3_Splice_Site_p.A166_splice|SLCO2A1_uc011blv.1_Intron|SLCO2A1_uc010htw.1_Splice_Site_p.A74_splice NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 CACATACTCACCTGTGTTGAC 0.527 NA 32 34 1.08312e-15 1.50395e-15 0.009535 1 0 STAG1 10274 broad.mit.edu 37 3 136078061 136078061 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:136078061C>T uc003era.1 - 27 3157 c.2865G>A c.(2863-2865)CTG>CTA p.L955L STAG1_uc003erb.1_Silent_p.L955L NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 955 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 AGCGACGTGCCAGTTCTTTAA 0.413 NA 29 25 0 0 0.007291 0 0 ATR 545 broad.mit.edu 37 3 142224081 142224081 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:142224081T>G uc003eux.3 - 29 5218 c.5096A>C c.(5095-5097)GAA>GCA p.E1699A NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1699 FAT. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TAGAGATGGTTCTGCCTTTCT 0.423 NA Other_conserved_DNA_damage_response_genes 112 109 0 0 0.00361 0 0 SLC9A9 285195 broad.mit.edu 37 3 143271264 143271264 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:143271264G>T uc003evn.2 - 9 1211 c.1029C>A c.(1027-1029)GTC>GTA p.V343V NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 343 Helical; (Potential). regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GTGCTTGTGTGACTCCACAGA 0.353 NA 35 30 3.66082e-28 5.60041e-28 0.005524 1 0 CP 1356 broad.mit.edu 37 3 148919898 148919898 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:148919898C>A uc003ewy.3 - 7 1592 c.1339G>T c.(1339-1341)GGC>TGC p.G447C CP_uc011bnr.1_RNA|CP_uc003ewx.3_Missense_Mutation_p.G228C|CP_uc003ewz.2_Missense_Mutation_p.G447C|CP_uc010hvf.1_Missense_Mutation_p.G173C NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 447 Plastocyanin-like 3.|F5/8 type A 2. 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) CCCAGGATGCCAAGATGCTCT 0.443 NA 49 48 1.86277e-20 2.72998e-20 0.00361 1 0 GOLIM4 27333 broad.mit.edu 37 3 167728113 167728113 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:167728113C>A uc003ffe.2 - 16 2379 c.2035G>T c.(2035-2037)GAG>TAG p.E679* GOLIM4_uc011bpe.1_Nonsense_Mutation_p.E680*|GOLIM4_uc011bpf.1_Nonsense_Mutation_p.E652*|GOLIM4_uc011bpg.1_Nonsense_Mutation_p.E651* NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 679 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 tcttcttcctcctcttcttcc 0.403 NA 84 153 5.72486e-32 8.93038e-32 0.00361 1 0 MECOM 2122 broad.mit.edu 37 3 168830606 168830606 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:168830606C>A uc003ffi.3 - 8 2251 c.1982G>T c.(1981-1983)AGG>ATG p.R661M MECOM_uc010hwk.1_Missense_Mutation_p.R684M|MECOM_uc003ffj.3_Missense_Mutation_p.R726M|MECOM_uc011bpi.1_Missense_Mutation_p.R662M|MECOM_uc003ffn.3_Missense_Mutation_p.R661M|MECOM_uc003ffk.2_Missense_Mutation_p.R661M|MECOM_uc003ffl.2_Missense_Mutation_p.R821M|MECOM_uc011bpj.1_Missense_Mutation_p.R849M|MECOM_uc011bpk.1_Missense_Mutation_p.R651M|MECOM_uc010hwn.2_Missense_Mutation_p.R849M NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 661 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TGGAGAAGGCCTCAAGTATTT 0.368 NA 49 129 4.44712e-29 6.87569e-29 0.00361 1 0 MECOM 2122 broad.mit.edu 37 3 168830608 168830608 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:168830608C>A uc003ffi.3 - 8 2249 c.1980G>T c.(1978-1980)TTG>TTT p.L660F MECOM_uc010hwk.1_Missense_Mutation_p.L683F|MECOM_uc003ffj.3_Missense_Mutation_p.L725F|MECOM_uc011bpi.1_Missense_Mutation_p.L661F|MECOM_uc003ffn.3_Missense_Mutation_p.L660F|MECOM_uc003ffk.2_Missense_Mutation_p.L660F|MECOM_uc003ffl.2_Missense_Mutation_p.L820F|MECOM_uc011bpj.1_Missense_Mutation_p.L848F|MECOM_uc011bpk.1_Missense_Mutation_p.L650F|MECOM_uc010hwn.2_Missense_Mutation_p.L848F NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 660 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 GAGAAGGCCTCAAGTATTTCT 0.363 NA 49 126 4.44712e-29 6.87569e-29 0.00361 1 0 MCCC1 56922 broad.mit.edu 37 3 182775145 182775145 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:182775145C>A uc003fle.2 - 8 964 c.827G>T c.(826-828)TGT>TTT p.C276F MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_RNA|MCCC1_uc003flf.2_Missense_Mutation_p.C159F|MCCC1_uc003flg.2_Missense_Mutation_p.C167F|MCCC1_uc011bqp.1_Missense_Mutation_p.C229F|MCCC1_uc011bqq.1_Missense_Mutation_p.C167F NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 276 Biotin carboxylation.|ATP-grasp. biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CTGCACACTACAGTCTCTTTC 0.413 NA 9 23 1.76689e-08 2.15186e-08 0.006214 1 0 ATP13A5 344905 broad.mit.edu 37 3 193052754 193052754 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:193052754C>A uc011bsq.1 - 10 1078 c.1078G>T c.(1078-1080)GGG>TGG p.G360W NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 360 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GGCCCCTGCCCAGAGGGCTTG 0.458 NA 61 33 9.4991e-31 1.47651e-30 0.00361 1 0 LRRC15 131578 broad.mit.edu 37 3 194081122 194081122 + Silent SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr3:194081122A>G uc003ftu.2 - 2 737 c.651T>C c.(649-651)TTT>TTC p.F217F LRRC15_uc003ftt.2_Silent_p.F223F NM_130830 NP_570843 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 isoform b 217 Extracellular (Potential).|LRR 7. integral to membrane ovary(3) 3 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) CAAGCCCATCAAAAGTGCCCA 0.567 NA 119 95 0 0 0.00361 0 0 RNF212 285498 broad.mit.edu 37 4 1073435 1073435 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:1073435C>A uc003gcj.2 - 8 836 c.506G>T c.(505-507)AGA>ATA p.R169I RNF212_uc003gch.2_Missense_Mutation_p.R11I|RNF212_uc003gci.2_Missense_Mutation_p.R169I|RNF212_uc010ibp.2_Intron|RNF212_uc010ibq.2_Intron NM_001131034 NP_001124506 Q495C1 RN212_HUMAN ring finger protein 212 isoform a 169 zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0179) UCEC - Uterine corpus endometrioid carcinoma (64;0.151) ACTTACTTTTCTAATCGGAGA 0.453 NA 19 95 1.67942e-08 2.04818e-08 0.006122 1 0 HTT 3064 broad.mit.edu 37 4 3176790 3176790 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:3176790C>T uc011bvq.1 + 34 4514 c.4369C>T c.(4369-4371)CTG>TTG p.L1457L NM_002111 NP_002102 P42858 HD_HUMAN huntingtin 1455 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GCTGGCGCAGCTGGTTCAGTT 0.373 NA 27 81 0 0 0.00632 0 0 RGS12 6002 broad.mit.edu 37 4 3441279 3441279 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:3441279G>C uc003ggw.2 + 18 5116 c.4212G>C c.(4210-4212)GCG>GCC p.A1404A RGS12_uc003ggz.2_Silent_p.A756A|RGS12_uc003gha.2_Silent_p.A746A|RGS12_uc010icv.2_Silent_p.A603A|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1404 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GTGGCATAGCGGGGGCACAGG 0.662 NA 13 49 0 0 0.00245 0 0 OTOP1 133060 broad.mit.edu 37 4 4190608 4190608 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:4190608G>T uc003ghp.1 - 6 1791 c.1761C>A c.(1759-1761)GTC>GTA p.V587V NM_177998 NP_819056 Q7RTM1 OTOP1_HUMAN otopetrin 1 587 Helical; (Potential). biomineral tissue development extracellular space|integral to membrane ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGGCCAGGTTGACCACAATTA 0.473 NA 12 151 1.3612e-06 1.57842e-06 0.003163 1 0 STK32B 55351 broad.mit.edu 37 4 5141635 5141635 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:5141635A>T uc003gih.1 + 2 120 c.56A>T c.(55-57)AAC>ATC p.N19I STK32B_uc010ida.1_5'UTR NM_018401 NP_060871 Q9NY57 ST32B_HUMAN serine/threonine kinase 32B 19 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 TTTGCAGTCAACTTTGACCAT 0.383 NA 5 165 0 0 0.001168 0 0 EVC2 132884 broad.mit.edu 37 4 5624461 5624461 + Silent SNP C C A rs139936564 byFrequency TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:5624461C>A uc003gij.2 - 14 2358 c.2304G>T c.(2302-2304)GTG>GTT p.V768V EVC2_uc011bwb.1_Silent_p.V208V|EVC2_uc003gik.2_Silent_p.V688V NM_147127 NP_667338 Q86UK5 LBN_HUMAN limbin 768 Potential. integral to membrane large_intestine(3)|ovary(2) 5 AGAGCCAGGGCACCCCACGCT 0.647 NA 10 37 0.000978159 0.00105826 0.000978 1 0 MAN2B2 23324 broad.mit.edu 37 4 6578375 6578375 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:6578375G>T uc003gjf.1 + 2 245 c.209G>T c.(208-210)CGC>CTC p.R70L MAN2B2_uc003gje.1_Missense_Mutation_p.R70L|MAN2B2_uc011bwf.1_Missense_Mutation_p.R70L NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN mannosidase, alpha, class 2B, member 2 70 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding ovary(2) 2 GGCCAGCAGCGCCGGTTCATC 0.627 NA 13 70 3.27435e-08 3.94915e-08 0.00245 1 0 LDB2 9079 broad.mit.edu 37 4 16513703 16513703 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:16513703G>C uc003goz.2 - 6 956 c.640C>G c.(640-642)CAG>GAG p.Q214E LDB2_uc003gpa.2_Missense_Mutation_p.Q214E|LDB2_uc003gpb.2_Missense_Mutation_p.Q214E|LDB2_uc011bxh.1_Missense_Mutation_p.Q186E|LDB2_uc010iee.2_Missense_Mutation_p.Q214E|LDB2_uc003goy.2_Missense_Mutation_p.Q90E|LDB2_uc011bxi.1_Missense_Mutation_p.Q90E NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 214 LIM domain binding|transcription cofactor activity 0 ATCAGTTCCTGCATTGGCTCC 0.438 NA 17 50 0 0 0.00499 0 0 SLIT2 9353 broad.mit.edu 37 4 20530581 20530581 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:20530581A>G uc003gpr.1 + 16 1676 c.1472A>G c.(1471-1473)GAT>GGT p.D491G SLIT2_uc003gps.1_Missense_Mutation_p.D483G NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 491 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 GGTACAGAAGATTATCGATCA 0.353 NA 29 105 0 0 0.002836 0 0 GPR125 166647 broad.mit.edu 37 4 22422577 22422577 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:22422577C>T uc003gqm.1 - 12 2006 c.1741G>A c.(1741-1743)GGA>AGA p.G581R GPR125_uc010ieo.1_Missense_Mutation_p.G455R|GPR125_uc003gqn.1_Missense_Mutation_p.G355R|GPR125_uc003gqo.2_Missense_Mutation_p.G581R NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 581 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TCCAGGTTTCCCTCTGGATCC 0.458 NA 165 316 0 0 0.00361 0 0 LGI2 55203 broad.mit.edu 37 4 25005746 25005746 + Missense_Mutation SNP C C T rs149130054 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:25005746C>T uc003grf.2 - 8 1064 c.965G>A c.(964-966)CGC>CAC p.R322H NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 322 EAR 3. extracellular region 0 Breast(46;0.173) CTTGGAAATGCGAGAGACCTC 0.468 NA 5 172 0 0 0.000602 0 0 TLR1 7096 broad.mit.edu 37 4 38798855 38798855 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:38798855C>G uc003gtl.2 - 4 1872 c.1598G>C c.(1597-1599)GGA>GCA p.G533A NM_003263 NP_003254 Q15399 TLR1_HUMAN toll-like receptor 1 precursor 533 Extracellular (Potential).|LRRCT. cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex protein heterodimerization activity|transmembrane receptor activity lung(2)|skin(2)|prostate(1) 5 GACAAATTCTCCTAGCTCACA 0.433 GBM(5;216 373 40795 46382) NA 5 418 0 0 0.001984 0 0 RFC1 5981 broad.mit.edu 37 4 39310388 39310388 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:39310388G>C uc003gty.1 - 13 1887 c.1753C>G c.(1753-1755)CTC>GTC p.L585V RFC1_uc003gtx.1_Missense_Mutation_p.L585V NM_002913 NP_002904 P35251 RFC1_HUMAN replication factor C large subunit 585 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 TCCACCCAGAGCAAATTTTCC 0.488 Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157) NA 4 270 0 0 0.009096 0 0 BEND4 389206 broad.mit.edu 37 4 42145827 42145827 + Missense_Mutation SNP C C G rs139053577 by1000genomes TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:42145827C>G uc003gwn.2 - 3 1252 c.672G>C c.(670-672)CAG>CAC p.Q224H BEND4_uc003gwm.2_Missense_Mutation_p.Q224H|BEND4_uc011byy.1_Missense_Mutation_p.Q224H NM_207406 NP_997289 Q6ZU67 BEND4_HUMAN BEN domain containing 4 isoform a 224 0 TGTCTGAGGTCTGACTGTGGA 0.438 NA 8 47 0 0 0.00308 0 0 GABRB1 2560 broad.mit.edu 37 4 47163293 47163293 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:47163293C>A uc003gxh.2 + 4 642 c.268C>A c.(268-270)CAG>AAG p.Q90K GABRB1_uc011bze.1_Missense_Mutation_p.Q20K NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 90 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GTATTTCCAGCAGTCTTGGAA 0.363 NA 26 98 4.26978e-12 5.6073e-12 0.00333 1 0 NIPAL1 152519 broad.mit.edu 37 4 48037822 48037822 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:48037822C>A uc003gxw.2 + 6 932 c.866C>A c.(865-867)ACA>AAA p.T289K NM_207330 NP_997213 Q6NVV3 NIPA3_HUMAN NIPA-like domain containing 1 289 Helical; (Potential). integral to membrane 0 TCAGTAACTACACAGATTAAC 0.423 NA 18 53 1.99824e-07 2.3707e-07 0.00499 1 0 TEC 7006 broad.mit.edu 37 4 48152932 48152932 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:48152932C>T uc003gxz.2 - 10 911 c.820G>A c.(820-822)GAT>AAT p.D274N NM_003215 NP_003206 P42680 TEC_HUMAN tec protein tyrosine kinase 274 SH2. intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1) 9 TGACTGGAATCCCTTACCATA 0.333 NA 34 125 0 0 0.004878 0 0 TMPRSS11A 339967 broad.mit.edu 37 4 68788579 68788579 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:68788579C>T uc003hdr.1 - 7 716 c.595G>A c.(595-597)GCG>ACG p.A199T LOC550112_uc003hdl.3_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.A196T NM_182606 NP_872412 Q6ZMR5 TM11A_HUMAN transmembrane protease, serine 11A isoform 1 199 Peptidase S1.|Extracellular (Potential). cell cycle|proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity p.A199V(1) skin(1) 1 GGCCAGGCCGCCTTGGGTGCA 0.433 NSCLC(26;2 894 10941 14480 22546) NA 17 37 0 0 0.004007 0 0 AFF1 4299 broad.mit.edu 37 4 88029353 88029353 + Silent SNP C C T rs146991025 byFrequency TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:88029353C>T uc003hqj.3 + 10 1805 c.1398C>T c.(1396-1398)TCC>TCT p.S466S AFF1_uc011ccz.1_Silent_p.S473S|AFF1_uc003hqk.3_Silent_p.S466S|AFF1_uc011cda.1_Silent_p.S104S NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 466 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) CAGCACATTCCAGCAGTGCAG 0.473 NA 28 34 0 0 0.00632 0 0 METAP1 23173 broad.mit.edu 37 4 99962203 99962203 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:99962203G>A uc003huf.3 + 6 559 c.442G>A c.(442-444)GAA>AAA p.E148K METAP1_uc003hug.2_RNA NM_015143 NP_055958 P53582 AMPM1_HUMAN methionyl aminopeptidase 1 148 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation cytoplasm aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(123;3.12e-07) GCTTGCTAGAGAAGTTTTGGA 0.353 NA 7 15 0 0 0.00308 0 0 EGF 1950 broad.mit.edu 37 4 110925712 110925712 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:110925712C>G uc003hzy.3 + 22 3677 c.3225C>G c.(3223-3225)AGC>AGG p.S1075R EGF_uc011cfu.1_Missense_Mutation_p.S1033R|EGF_uc011cfv.1_Missense_Mutation_p.S1034R|EGF_uc010imk.2_Missense_Mutation_p.S223R NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 1075 Cytoplasmic (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGGAGTCGAGCAGAGATGTGA 0.453 NA 38 55 0 0 0.004289 0 0 SYNPO2 171024 broad.mit.edu 37 4 119944675 119944675 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:119944675T>A uc003icm.3 + 2 392 c.196T>A c.(196-198)TAC>AAC p.Y66N SYNPO2_uc010ina.2_Missense_Mutation_p.Y66N|SYNPO2_uc010inb.2_Missense_Mutation_p.Y66N|SYNPO2_uc011cgh.1_Missense_Mutation_p.Y66N|SYNPO2_uc010inc.2_5'UTR NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 66 PDZ. nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AGATCTCACCTACCCTGAAGT 0.453 NA 29 34 0 0 0.009535 0 0 RXFP1 59350 broad.mit.edu 37 4 159493974 159493974 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:159493974T>C uc003ipz.2 + 2 256 c.174T>C c.(172-174)GAT>GAC p.D58D RXFP1_uc010iqj.1_5'UTR|RXFP1_uc011cja.1_5'UTR|RXFP1_uc010iqo.2_Silent_p.D58D|RXFP1_uc011cjb.1_5'UTR|RXFP1_uc010iqk.2_5'UTR|RXFP1_uc011cjc.1_5'UTR|RXFP1_uc011cjd.1_5'UTR|RXFP1_uc010iql.2_5'UTR|RXFP1_uc011cje.1_Silent_p.D58D|RXFP1_uc010iqm.2_Silent_p.D58D|RXFP1_uc011cjf.1_5'UTR|RXFP1_uc010iqn.2_Intron NM_021634 NP_067647 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 58 Extracellular (Potential).|LDL-receptor class A. Calcium. integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATCAGGCCGATGAGGACAACT 0.532 NA 11 52 0 0 0.000978 0 0 GPM6A 2823 broad.mit.edu 37 4 176622818 176622818 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:176622818G>T uc003iuf.2 - 2 942 c.138C>A c.(136-138)TGC>TGA p.C46* GPM6A_uc011ckj.1_Nonsense_Mutation_p.C39*|GPM6A_uc003iug.2_Nonsense_Mutation_p.C46*|GPM6A_uc003iuh.2_Nonsense_Mutation_p.C35* NM_201591 NP_963885 P51674 GPM6A_HUMAN glycoprotein M6A isoform 2 46 Extracellular (Potential). cell surface|integral to membrane 0 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CTTCATGACCGCAGCCACAGA 0.493 NA 35 61 6.05902e-23 9.01615e-23 0.003755 1 0 ODZ3 55714 broad.mit.edu 37 4 183603130 183603130 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:183603130G>T uc003ivd.1 + 10 2035 c.1998G>T c.(1996-1998)ACG>ACT p.T666T ODZ3_uc003ive.1_Silent_p.T72T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 666 EGF-like 5.|Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GCTCCTGCACGTGTGACCCTA 0.473 NA 22 34 9.57634e-11 1.22263e-10 0.00333 1 0 CYP4V2 285440 broad.mit.edu 37 4 187130045 187130045 + Missense_Mutation SNP G G C rs58584561 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:187130045G>C uc003iyw.3 + 9 1421 c.1117G>C c.(1117-1119)GAA>CAA p.E373Q CYP4V2_uc010ism.2_RNA NM_207352 NP_997235 Q6ZWL3 CP4V2_HUMAN cytochrome P450, family 4, subfamily v, 373 response to stimulus|visual perception endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen 0 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17) CGCTACAGTAGAAGACCTGAA 0.458 NA 39 77 0 0 0.005524 0 0 SLC12A7 10723 broad.mit.edu 37 5 1085503 1085503 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:1085503T>A uc003jbu.2 - 7 827 c.761A>T c.(760-762)TAC>TTC p.Y254F NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 254 Helical; (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GCACGTGCCGTACACACGCAT 0.647 NA 4 24 0 0 0.009096 0 0 IRX2 153572 broad.mit.edu 37 5 2749627 2749627 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:2749627T>A uc003jda.2 - 2 766 c.524A>T c.(523-525)GAG>GTG p.E175V C5orf38_uc003jdc.2_5'Flank|C5orf38_uc011cmg.1_5'Flank|C5orf38_uc011cmh.1_5'Flank|C5orf38_uc011cmi.1_5'Flank|C5orf38_uc011cmj.1_5'Flank|IRX2_uc003jdb.2_Missense_Mutation_p.E175V NM_001134222 NP_001127694 Q9BZI1 IRX2_HUMAN iroquois homeobox 2 175 Homeobox; TALE-type. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GBM - Glioblastoma multiforme(108;0.204) CATCTTGTTCTCCTTCTTGAG 0.602 NA 32 130 0 0 0.004289 0 0 ADCY2 108 broad.mit.edu 37 5 7690890 7690890 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:7690890G>T uc003jdz.1 + 5 874 c.807G>T c.(805-807)GCG>GCT p.A269A ADCY2_uc011cmo.1_Silent_p.A89A NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 269 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GCCCCAAGGCGGGCCAGATGG 0.582 NA 19 74 2.4624e-09 3.06744e-09 0.008871 1 0 SEMA5A 9037 broad.mit.edu 37 5 9227044 9227044 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:9227044C>G uc003jek.2 - 7 1081 c.369G>C c.(367-369)GTG>GTC p.V123V NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 123 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 GGTCGCCACCCACCAGAAGCA 0.393 NA 5 120 0 0 0.001168 0 0 CTNND2 1501 broad.mit.edu 37 5 11732329 11732329 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:11732329C>A uc003jfa.1 - 2 238 c.93G>T c.(91-93)CTG>CTT p.L31L CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 31 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AGCCGGGGCTCAGGGAACTCG 0.502 NA 41 147 1.96642e-18 2.82026e-18 0.006999 1 0 CDH10 1008 broad.mit.edu 37 5 24487955 24487955 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:24487955G>A uc003jgr.1 - 12 2516 c.2184C>T c.(2182-2184)CCC>CCT p.P728P CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 728 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) AGTCGTAGGGGGGTGCGGTGG 0.453 NA HNSCC(23;0.051) 14 211 0 0 0.00245 0 0 CDH6 1004 broad.mit.edu 37 5 31294121 31294121 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:31294121G>T uc003jhe.1 + 3 607 c.281G>T c.(280-282)GGA>GTA p.G94V CDH6_uc003jhd.1_Missense_Mutation_p.G94V NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 94 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 ATCCTTTCAGGAGATGGAGCA 0.393 NA 43 153 9.84934e-19 1.41726e-18 0.002522 1 0 NPR3 4883 broad.mit.edu 37 5 32712584 32712584 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:32712584C>A uc003jhv.2 + 1 920 c.702C>A c.(700-702)TAC>TAA p.Y234* NPR3_uc010iuo.2_Intron|NPR3_uc011cnz.1_Intron|NPR3_uc003jhu.2_Nonsense_Mutation_p.Y234* NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 234 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) CGTCCATCTACAGTTTCGACG 0.607 NA 54 197 3.50607e-19 5.05337e-19 0.00361 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33596156 33596156 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:33596156C>T uc003jia.1 - 17 2700 c.2537G>A c.(2536-2538)CGC>CAC p.R846H ADAMTS12_uc010iuq.1_Missense_Mutation_p.R761H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 846 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGCAGTTTGGCGGCGGATACC 0.517 NA HNSCC(64;0.19) 13 178 0 0 0.001855 0 0 PRLR 5618 broad.mit.edu 37 5 35065590 35065590 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:35065590C>G uc003jjm.2 - 10 2000 c.1470G>C c.(1468-1470)ACG>ACC p.T490T PRLR_uc003jjg.1_Intron|PRLR_uc003jjh.1_Intron|PRLR_uc003jji.1_Intron|PRLR_uc003jjj.1_Intron|PRLR_uc003jjk.1_Intron|PRLR_uc003jjl.3_Silent_p.T389T NM_000949 NP_000940 P16471 PRLR_HUMAN prolactin receptor precursor 490 Cytoplasmic (Potential). activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation cell surface|extracellular region|integral to membrane metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity ovary(2)|skin(1) 3 all_lung(31;3.83e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GCAGCCAGGGCGTATCCTGGT 0.483 NA 82 173 0 0 0.00361 0 0 C9 735 broad.mit.edu 37 5 39341300 39341300 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:39341300A>G uc003jlv.3 - 4 513 c.424T>C c.(424-426)TGC>CGC p.C142R NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 142 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex 0 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CTGTCTCTGCAGGGGGGACGG 0.463 NA 13 224 0 0 0.001368 0 0 PLCXD3 345557 broad.mit.edu 37 5 41382476 41382476 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:41382476T>C uc003jmm.1 - 2 366 c.264A>G c.(262-264)CTA>CTG p.L88L NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 88 PI-PLC X-box. intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 TTCCAGCTCCTAGCTGGCCAG 0.438 NA 13 134 0 0 0.00245 0 0 FBXO4 26272 broad.mit.edu 37 5 41927303 41927303 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:41927303G>T uc003jmq.2 + 2 434 c.378G>T c.(376-378)AAG>AAT p.K126N FBXO4_uc003jmp.2_Missense_Mutation_p.K126N|FBXO4_uc003jmr.2_Missense_Mutation_p.K126N NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 126 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) TCTTAAAAAAGCCTATATCTG 0.343 NA 32 171 2.09667e-21 3.09356e-21 0.003755 1 0 GZMK 3003 broad.mit.edu 37 5 54326301 54326301 + Silent SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:54326301A>T uc003jpl.1 + 3 296 c.252A>T c.(250-252)GCA>GCT p.A84A NM_002104 NP_002095 P49863 GRAK_HUMAN granzyme K precursor 84 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) TTTTAGGCGCACACTCTCTCT 0.413 NA 24 55 0 0 0.00278 0 0 CD180 4064 broad.mit.edu 37 5 66479315 66479315 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:66479315G>A uc003juy.2 - 3 1504 c.1356C>T c.(1354-1356)CTC>CTT p.L452L NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 452 Extracellular (Potential).|LRR 15. inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AGCAGTAAGTGAGATTCAGAA 0.453 NA 8 159 0 0 0.006214 0 0 F2R 2149 broad.mit.edu 37 5 76029252 76029252 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:76029252G>T uc003ken.3 + 2 1467 c.1202G>T c.(1201-1203)GGG>GTG p.G401V NM_001992 NP_001983 P25116 PAR1_HUMAN coagulation factor II receptor precursor 401 Cytoplasmic (Potential). activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network receptor binding|thrombin receptor activity ovary(3) 3 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) Streptokinase(DB00086) AACAGCAGTGGGCAGTTGATG 0.428 NA 30 49 1.62565e-12 2.15108e-12 0.002445 1 0 JMY 133746 broad.mit.edu 37 5 78612080 78612080 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:78612080G>C uc003kfx.3 + 10 3437 c.2917G>C c.(2917-2919)GAG>CAG p.E973Q NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 973 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) AGCATCCCCAGAGTCAGAGGA 0.433 NA 4 9 0 0 0.009096 0 0 CMYA5 202333 broad.mit.edu 37 5 79031289 79031289 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:79031289C>G uc003kgc.2 + 2 6773 c.6701C>G c.(6700-6702)GCT>GGT p.A2234G NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 2234 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GAGAAACCAGCTGATCATTCA 0.388 NA 34 128 0 0 0.002836 0 0 Unknown 0 broad.mit.edu 37 5 79655242 79655242 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:79655242C>T uc003kgo.2 - 1 666 c.503G>A c.(502-504)CGT>CAT p.R168H SubName: Full=Putative uncharacterized protein; Flags: Fragment; NA accacctccacgaccaccacc 0.214 NA 5 52 0 0 0.000602 0 0 ANKRD34B 340120 broad.mit.edu 37 5 79855521 79855521 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:79855521C>A uc010jam.2 - 4 668 c.318G>T c.(316-318)AAG>AAT p.K106N ANKRD34B_uc003kgw.2_Missense_Mutation_p.K106N|ANKRD34B_uc010jan.2_Missense_Mutation_p.K106N NM_001004441 NP_001004441 A5PLL1 AN34B_HUMAN ankyrin repeat domain 34B 106 ANK 3. cytoplasm|nucleus pancreas(1) 1 Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113) OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36) CAGCCCCACTCTTGAGGAGCA 0.448 NA 46 75 3.05275e-18 4.37109e-18 0.003214 1 0 TTC37 9652 broad.mit.edu 37 5 94839593 94839593 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:94839593G>A uc003klb.2 - 31 3412 c.3142C>T c.(3142-3144)CTT>TTT p.L1048F NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 1048 TPR 17. binding ovary(3)|pancreas(1) 4 AACACTTCAAGGGGTGTTGAC 0.363 NA 18 42 0 0 0.008871 0 0 MAN2A1 4124 broad.mit.edu 37 5 109051926 109051926 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:109051926C>T uc003kou.1 + 3 1459 c.496C>T c.(496-498)CTT>TTT p.L166F NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 166 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) CACTGAACCCCTTCAAGTCTT 0.388 NA 33 49 0 0 0.002445 0 0 EPB41L4A 64097 broad.mit.edu 37 5 111531407 111531407 + Splice_Site SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:111531407T>C uc003kpv.1 - 16 1651 c.1377_splice c.e16-1 p.R459_splice EPB41L4A_uc003kpp.1_Splice_Site_p.R86_splice NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) TGGGCTTTCCTGTGAAAACAA 0.368 NA 12 22 0 0 0.000978 0 0 PRR16 51334 broad.mit.edu 37 5 120022181 120022181 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:120022181T>C uc003ksq.2 + 2 855 c.692T>C c.(691-693)GTC>GCC p.V231A PRR16_uc003ksp.2_Missense_Mutation_p.V208A|PRR16_uc003ksr.2_Missense_Mutation_p.V161A NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 231 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) AACAGGGAGGTCCACTTACAC 0.507 NA 13 35 0 0 0.001855 0 0 PCDHB4 56131 broad.mit.edu 37 5 140503842 140503842 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:140503842G>A uc003lip.1 + 1 2262 c.2262G>A c.(2260-2262)CTG>CTA p.L754L NM_018938 NP_061761 Q9Y5E5 PCDB4_HUMAN protocadherin beta 4 precursor 754 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGTGTGTCTGACAGGAGACT 0.572 NA 70 82 0 0 0.00361 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590281 140590281 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:140590281G>T uc003liz.2 + 1 1991 c.1802G>T c.(1801-1803)TGG>TTG p.W601L PCDHB12_uc011dak.1_Missense_Mutation_p.W264L NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 601 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGAACGCCTGGCTGTCGTAC 0.721 NA 22 193 3.65163e-15 5.03832e-15 0.00632 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140712360 140712360 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:140712360C>G uc003lji.1 + 1 2109 c.2109C>G c.(2107-2109)GTC>GTG p.V703V PCDHGA1_uc011dan.1_Silent_p.V703V NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 703 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTCCTGCGTCTTCCTGGCCT 0.672 NA 67 57 0 0 0.00361 0 0 PCDHGA3 56112 broad.mit.edu 37 5 140724427 140724427 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:140724427A>C uc003ljm.1 + 1 827 c.827A>C c.(826-828)CAA>CCA p.Q276P PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.Q36P|PCDHGA3_uc011dap.1_Missense_Mutation_p.Q276P NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 276 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAATGCTCAAGTGTCTTAT 0.448 NA 24 19 0 0 0.002299 0 0 PDGFRB 5159 broad.mit.edu 37 5 149501587 149501587 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:149501587C>A uc003lro.2 - 16 2669 c.2200G>T c.(2200-2202)GGG>TGG p.G734W PDGFRB_uc010jhd.2_Missense_Mutation_p.G573W NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 734 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TCGCTCTCCCCGGTCAAGGAC 0.562 NA T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 19 22 2.4624e-09 3.06744e-09 0.008871 1 0 NIPAL4 348938 broad.mit.edu 37 5 156895745 156895745 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:156895745T>A uc003lwx.3 + 4 652 c.536T>A c.(535-537)GTT>GAT p.V179D ADAM19_uc003lww.1_Intron|NIPAL4_uc011ddq.1_Missense_Mutation_p.V160D|NIPAL4_uc010jin.1_3'UTR NM_001099287 NP_001092757 Q0D2K0 NIPA4_HUMAN ichthyin protein 179 Helical; (Potential). integral to membrane receptor activity 0 GCTGGAGAAGTTGCCAACTTT 0.522 NA 59 52 0 0 0.00361 0 0 SLIT3 6586 broad.mit.edu 37 5 168098301 168098301 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:168098301G>T uc003mab.2 - 34 4449 c.4029C>A c.(4027-4029)TGC>TGA p.C1343* SLIT3_uc010jjg.2_Nonsense_Mutation_p.C1350* NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1343 EGF-like 7. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCACGGAGCGGCACAGGCCGT 0.677 Ovarian(29;311 847 10864 17279 24903) NA 15 23 0.000566183 0.00061714 0.00499 1 0 FAM153B 202134 broad.mit.edu 37 5 175528581 175528581 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:175528581G>T uc003mdk.2 + 12 718 c.661G>T c.(661-663)GAA>TAA p.E221* NM_001079529 NP_001072997 P0C7A2 F153B_HUMAN hypothetical protein LOC202134 221 ovary(1) 1 all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Kidney(146;0.0965) CACACTGGCCGAACGTACGTA 0.463 NA 51 106 2.27459e-33 3.56735e-33 0.00361 1 0 FGFR4 2264 broad.mit.edu 37 5 176520201 176520201 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr5:176520201G>T uc003mfl.2 + 9 1287 c.1120G>T c.(1120-1122)GCG>TCG p.A374S FGFR4_uc003mfm.2_Missense_Mutation_p.A374S|FGFR4_uc011dfu.1_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.2_Intron NM_002011 NP_002002 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 isoform 1 374 Helical; (Potential). insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity lung(11)|stomach(1)|central_nervous_system(1)|breast(1)|skin(1)|prostate(1) 16 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) CATCCTGTACGCGTCGGGCTC 0.682 NA TSP Lung(9;0.080) 4 22 1.23904e-05 1.405e-05 0.000602 1 0 BPHL 670 broad.mit.edu 37 6 3137679 3137680 + Missense_Mutation DNP TG TG CT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:3137679_3137680TG>CT uc003mva.2 + 5 665_666 c.616_617TG>CT c.(616-618)TGT>CTT p.C206L BPHL_uc003muz.2_Intron|BPHL_uc011dht.1_Intron|BPHL_uc003muy.2_Missense_Mutation_p.C189L NM_004332 NP_004323 Q86WA6 BPHL_HUMAN biphenyl hydrolase-like precursor 206 cellular amino acid metabolic process|response to toxin mitochondrion hydrolase activity 0 Ovarian(93;0.0386) all_hematologic(90;0.108) TGCCAGAACCTGTGAAAAGTGG 0.465 NA 25 159 0 0 0.004672 0 0 GMPR 2766 broad.mit.edu 37 6 16274679 16274679 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:16274679G>C uc003nbs.2 + 5 613 c.499G>C c.(499-501)GAG>CAG p.E167Q NM_006877 NP_006868 P36959 GMPR1_HUMAN guanosine monophosphate reductase 167 nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold cytosol GMP reductase activity|metal ion binding ovary(1) 1 Breast(50;0.0427)|Ovarian(93;0.103) all_hematologic(90;0.0895) AATGGTAGAAGAGCTTATTCT 0.473 NA 3 122 0 0 0.004672 0 0 RBM24 221662 broad.mit.edu 37 6 17283081 17283081 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:17283081C>A uc003nbz.3 + 2 218 c.214C>A c.(214-216)CCC>ACC p.P72T RBM24_uc003nby.3_Missense_Mutation_p.P72T|RBM24_uc011dix.1_Missense_Mutation_p.P14T|RBM24_uc003nca.2_Missense_Mutation_p.P27T NM_001143942 NP_001137414 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 isoform 1 72 RRM. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding ovary(1)|skin(1) 2 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CTGCAAGGATCCCAATCCCAT 0.493 NA 24 54 1.1804e-14 1.61333e-14 0.003954 1 0 NRSN1 140767 broad.mit.edu 37 6 24145935 24145935 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:24145935C>A uc010jpq.1 + 4 586 c.349C>A c.(349-351)CTG>ATG p.L117M NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 117 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 CATGTACAAGCTGGCAGGAGC 0.498 NA 27 73 1.17739e-12 1.56746e-12 0.005443 1 0 HIST1H1T 3010 broad.mit.edu 37 6 26107887 26107887 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:26107887C>A uc003ngj.2 - 1 478 c.435G>T c.(433-435)AAG>AAT p.K145N NM_005323 NP_005314 P22492 H1T_HUMAN histone cluster 1, H1t 145 cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis nucleosome DNA binding ovary(2) 2 TTTTAGCAGTCTTTGGTGACT 0.463 NA 95 134 5.48297e-45 8.77275e-45 0.00361 1 0 HIST1H4E 8367 broad.mit.edu 37 6 26204885 26204885 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:26204885G>T uc003ngy.2 + 1 13 c.13G>T c.(13-15)GGC>TGC p.G5C NM_003545 NP_003536 P62805 H4_HUMAN histone cluster 1, H4e 5 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding ovary(1) 1 all_hematologic(11;0.196) GTCTGGTCGCGGCAAAGGCGG 0.517 NA 45 94 4.00472e-15 5.50807e-15 0.00361 1 0 PRSS16 10279 broad.mit.edu 37 6 27222627 27222627 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:27222627G>C uc003nja.2 + 10 1318 c.1306G>C c.(1306-1308)GCT>CCT p.A436P PRSS16_uc011dkt.1_RNA|PRSS16_uc003njb.2_Missense_Mutation_p.A179P|PRSS16_uc003njd.2_Intron NM_005865 NP_005856 Q9NQE7 TSSP_HUMAN protease, serine, 16 precursor 436 protein catabolic process|proteolysis cytoplasmic membrane-bounded vesicle serine-type peptidase activity ovary(2)|central_nervous_system(2)|skin(1) 5 GACCCCTGGGGCTAACAAAGT 0.552 NSCLC(178;1118 2105 17078 23587 44429) NA 14 177 0 0 0.001855 0 0 MRPS18B 28973 broad.mit.edu 37 6 30593315 30593315 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:30593315G>T uc003nqo.2 + 7 675 c.518G>T c.(517-519)CGG>CTG p.R173L MRPS18B_uc011dml.1_3'UTR|MRPS18B_uc010jsd.1_Missense_Mutation_p.R130L|C6orf134_uc003nqr.3_5'Flank|C6orf134_uc003rdc.2_5'Flank|C6orf134_uc003nqs.3_5'Flank|C6orf134_uc003rdd.2_5'Flank|C6orf134_uc003nqu.2_5'Flank|C6orf134_uc003nqt.2_5'Flank|C6orf134_uc011dmm.1_5'Flank|C6orf134_uc003nqv.2_5'Flank NM_014046 NP_054765 Q9Y676 RT18B_HUMAN mitochondrial ribosomal protein S18B precursor 173 translation mitochondrial small ribosomal subunit protein binding|structural constituent of ribosome ovary(1) 1 GTTGAACCACGGGACCTTGAC 0.502 NA 58 236 2.43698e-19 3.51904e-19 0.00361 1 0 LHFPL5 222662 broad.mit.edu 37 6 35773838 35773838 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:35773838G>T uc003olg.1 + 1 768 c.391G>T c.(391-393)GCA>TCA p.A131S NM_182548 NP_872354 Q8TAF8 TMHS_HUMAN lipoma HMGIC fusion partner-like 5 131 Helical; (Potential). integral to membrane skin(1) 1 TAAGATCTGTGCATGGATGCA 0.587 NA 29 21 4.87955e-14 6.6071e-14 0.005443 1 0 DNAH8 1769 broad.mit.edu 37 6 38790760 38790760 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:38790760T>A uc003ooe.1 + 25 3619 c.3019T>A c.(3019-3021)TTT>ATT p.F1007I 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 CCTGCAGGACTTTCAGAAGTA 0.473 NA 36 21 0 0 0.006999 0 0 DNAH8 1769 broad.mit.edu 37 6 38919134 38919134 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:38919134T>A uc003ooe.1 + 80 12238 c.11638T>A c.(11638-11640)TAT>AAT p.Y3880N DNAH8_uc003oog.1_Missense_Mutation_p.Y329N|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 AGCAAGAAAGTATATTGCAGA 0.378 NA 124 101 0 0 0.00361 0 0 TREML4 285852 broad.mit.edu 37 6 41196631 41196631 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:41196631C>A uc003oqc.2 + 2 347 c.243C>A c.(241-243)TAC>TAA p.Y81* TREML4_uc003oqd.2_RNA NM_198153 NP_937796 Q6UXN2 TRML4_HUMAN triggering receptor expressed on myeloid 81 Ig-like V-type. extracellular region breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) AGTCTCATTACACAATCTGGG 0.493 NA 51 38 2.0833e-19 3.01767e-19 0.00361 1 0 PTCRA 171558 broad.mit.edu 37 6 42893278 42893278 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:42893278G>A uc003osx.2 + 4 785 c.704G>A c.(703-705)GGG>GAG p.G235E PTCRA_uc010jxy.2_Missense_Mutation_p.G210E|PTCRA_uc010jxz.2_Missense_Mutation_p.G128E NM_138296 NP_612153 Q6ISU1 PTCRA_HUMAN pre T-cell antigen receptor alpha precursor 235 Cytoplasmic (Potential). integral to membrane receptor activity ovary(2) 2 Colorectal(47;0.196) all cancers(41;0.000731)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388) CCAGTATGGGGGGAAGGGTCT 0.647 NA 3 5 0 0 0.004672 0 0 CUL7 9820 broad.mit.edu 37 6 43014777 43014777 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:43014777C>T uc003otq.2 - 10 2541 c.2238G>A c.(2236-2238)CTG>CTA p.L746L CUL7_uc010jyg.2_5'Flank|CUL7_uc011dvb.1_Silent_p.L830L|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 746 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) CCAGCTGATTCAGCACCACGG 0.567 NA 18 142 0 0 0.008871 0 0 COL19A1 1310 broad.mit.edu 37 6 70886415 70886415 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:70886415G>A uc003pfc.1 + 42 2743 c.2626G>A c.(2626-2628)GAT>AAT p.D876N NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 876 Triple-helical region 5 (COL5). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CCAACAGGGAGATCGAGGCCC 0.378 NA 5 44 0 0 0.000602 0 0 COX7A2 1347 broad.mit.edu 37 6 75950955 75950955 + Silent SNP C C A rs139079443 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:75950955C>A uc003phv.1 - 2 120 c.45G>T c.(43-45)ACG>ACT p.T15T NM_001865 NP_001856 P14406 CX7A2_HUMAN cytochrome c oxidase subunit VIIa polypeptide 2 15 mitochondrial respiratory chain cytochrome-c oxidase activity|electron carrier activity 0 CAGTGCTTATCGTCCTCTGCC 0.279 NA 98 103 7.59261e-44 1.21038e-43 0.00361 1 0 SNX14 57231 broad.mit.edu 37 6 86238049 86238049 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:86238049C>G uc003pkr.2 - 20 2119 c.1926G>C c.(1924-1926)AAG>AAC p.K642N SNX14_uc003pkp.2_Missense_Mutation_p.K505N|SNX14_uc003pkq.2_Missense_Mutation_p.K248N|SNX14_uc011dzg.1_Missense_Mutation_p.K590N|SNX14_uc003pks.2_Missense_Mutation_p.K589N|SNX14_uc003pkt.2_Missense_Mutation_p.K633N NM_153816 NP_722523 Q9Y5W7 SNX14_HUMAN sorting nexin 14 isoform a 642 PX. cell communication|protein transport integral to membrane phosphatidylinositol binding|signal transducer activity 0 all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24) BRCA - Breast invasive adenocarcinoma(108;0.0423) CAATGATCCTCTTAGAAGGAA 0.318 NA 91 98 0 0 0.00361 0 0 CNR1 1268 broad.mit.edu 37 6 88854965 88854965 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:88854965T>C uc011dzq.1 - 2 3592 c.29A>G c.(28-30)GAT>GGT p.D10G CNR1_uc010kbz.2_Missense_Mutation_p.D10G|CNR1_uc011dzr.1_Missense_Mutation_p.D10G|CNR1_uc011dzs.1_Missense_Mutation_p.D10G|CNR1_uc003pmq.3_Missense_Mutation_p.D10G|CNR1_uc011dzt.1_Missense_Mutation_p.D10G|CNR1_uc010kca.2_Missense_Mutation_p.D10G NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 10 Extracellular (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) GAAGGTGGTATCTGCAAGGCC 0.483 NA 60 58 0 0 0.00361 0 0 MAP3K7 6885 broad.mit.edu 37 6 91257081 91257081 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:91257081C>G uc003pnz.1 - 11 1268 c.1106G>C c.(1105-1107)GGA>GCA p.G369A MAP3K7_uc003poa.1_Missense_Mutation_p.G369A|MAP3K7_uc003pob.1_Missense_Mutation_p.G369A|MAP3K7_uc003poc.1_Missense_Mutation_p.G369A NM_145331 NP_663304 O43318 M3K7_HUMAN mitogen-activated protein kinase kinase kinase 7 369 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1) 6 all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164) OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429) ACGGGAGGCTCCCAAGCTTAA 0.473 NA 73 102 0 0 0.00361 0 0 TAAR8 83551 broad.mit.edu 37 6 132874098 132874098 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:132874098G>T uc011ecj.1 + 1 267 c.267G>T c.(265-267)ATG>ATT p.M89I NM_053278 NP_444508 Q969N4 TAAR8_HUMAN trace amine associated receptor 8 89 Extracellular (Potential). plasma membrane G-protein coupled receptor activity ovary(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792) TTTTCAGCATGGTCAGGACGG 0.458 NA 113 71 6.46527e-39 1.01948e-38 0.00361 1 0 ECT2L 345930 broad.mit.edu 37 6 139159550 139159550 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:139159550T>A uc003qif.1 + 3 344 c.241T>A c.(241-243)TTA>ATA p.L81I ECT2L_uc011edq.1_Missense_Mutation_p.L12I NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 81 F-box. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 CTCTACAGTGTTACCACGCTT 0.403 NA 11 52 0 0 0.001855 0 0 VTA1 51534 broad.mit.edu 37 6 142510618 142510618 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:142510618T>C uc003qiw.2 + 5 482 c.467T>C c.(466-468)TTA>TCA p.L156S VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Missense_Mutation_p.L98S NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 156 Interaction with IST1. CL -> V (in Ref. 3; AAF36148). cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) CATAATTGTTTAAAGAATGGG 0.343 NA 58 37 0 0 0.00361 0 0 HIVEP2 3097 broad.mit.edu 37 6 143080987 143080987 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:143080987G>A uc003qjd.2 - 9 7181 c.6438C>T c.(6436-6438)CCC>CCT p.P2146P NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 2146 10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|10.|Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) AAGCCCTTCTGGGAGATGGCG 0.463 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 54 39 0 0 0.00361 0 0 LATS1 9113 broad.mit.edu 37 6 150001196 150001196 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:150001196C>G uc003qmu.1 - 5 2956 c.2408G>C c.(2407-2409)AGT>ACT p.S803T LATS1_uc010kif.1_Missense_Mutation_p.S698T|LATS1_uc003qmv.1_Missense_Mutation_p.S803T NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 803 Protein kinase. cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TCGTGCCAGACTTTCTGGAAA 0.338 NA 14 112 0 0 0.001855 0 0 MYCT1 80177 broad.mit.edu 37 6 153019179 153019179 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:153019179A>G uc003qpd.3 + 1 150 c.142A>G c.(142-144)ATT>GTT p.I48V MYCT1_uc010kjc.1_Missense_Mutation_p.I48V|MYCT1_uc003qpc.3_Missense_Mutation_p.I48V NM_025107 NP_079383 Q8N699 MYCT1_HUMAN myc target 1 48 nucleus ovary(1) 1 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TCTTGTGGATATTATGGCTAA 0.313 NA 8 57 0 0 0.004482 0 0 TIAM2 26230 broad.mit.edu 37 6 155450561 155450561 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:155450561T>A uc003qqb.2 + 6 1477 c.204T>A c.(202-204)TTT>TTA p.F68L TIAM2_uc003qqe.2_Missense_Mutation_p.F68L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 68 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TTTCTCACTTTAAGAGTAACC 0.547 NA 23 18 0 0 0.003954 0 0 NOX3 50508 broad.mit.edu 37 6 155728268 155728268 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:155728268G>C uc003qqm.2 - 12 1679 c.1576C>G c.(1576-1578)CCC>GCC p.P526A NM_015718 NP_056533 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 526 Cytoplasmic (Potential). electron carrier activity|flavin adenine dinucleotide binding|iron ion binding ovary(1) 1 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CCTTACCTGGGGTGATTGTAG 0.488 NA 27 42 0 0 0.008361 0 0 C6orf118 168090 broad.mit.edu 37 6 165715189 165715189 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr6:165715189C>T uc003qum.3 - 2 658 c.622G>A c.(622-624)GGA>AGA p.G208R C6orf118_uc011egi.1_RNA NM_144980 NP_659417 Q5T5N4 CF118_HUMAN hypothetical protein LOC168090 208 0 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) CTGGTGGCTCCGGCCAGGTAG 0.602 NA 35 25 0 0 0.003271 0 0 MICALL2 79778 broad.mit.edu 37 7 1474755 1474755 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:1474755C>A uc003skj.3 - 16 2767 c.2620G>T c.(2620-2622)GAC>TAC p.D874Y MICALL2_uc003skh.3_Intron|MICALL2_uc003ski.3_Missense_Mutation_p.D361Y NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 874 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) TCAATCATGTCCCGCAGCATC 0.647 NA 28 107 4.2108e-06 4.84409e-06 0.009535 1 0 INTS1 26173 broad.mit.edu 37 7 1517560 1517560 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:1517560A>G uc003skn.2 - 34 4744 c.4643T>C c.(4642-4644)CTG>CCG p.L1548P INTS1_uc003skm.1_5'Flank NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1548 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) CACCTCGATCAGCCCCTGGAG 0.647 NA 5 97 0 0 0.001168 0 0 INTS1 26173 broad.mit.edu 37 7 1536898 1536898 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:1536898C>A uc003skn.2 - 11 1579 c.1478G>T c.(1477-1479)CGG>CTG p.R493L NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 493 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) CCGCGAGGCCCGCAGGTAGTC 0.652 NA 9 50 0.000274275 0.000300085 0.004482 1 0 MAD1L1 8379 broad.mit.edu 37 7 2255624 2255624 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:2255624C>T uc003slh.1 - 9 1086 c.820G>A c.(820-822)GAG>AAG p.E274K MAD1L1_uc003sle.1_Missense_Mutation_p.E3K|MAD1L1_uc003slf.1_Missense_Mutation_p.E274K|MAD1L1_uc003slg.1_Missense_Mutation_p.E274K|MAD1L1_uc010ksh.1_Missense_Mutation_p.E274K|MAD1L1_uc003sli.1_Missense_Mutation_p.E182K|MAD1L1_uc010ksi.1_Missense_Mutation_p.E227K|MAD1L1_uc010ksj.2_Missense_Mutation_p.E274K NM_001013836 NP_001013858 Q9Y6D9 MD1L1_HUMAN MAD1-like 1 protein 274 Potential. cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle protein binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0272) UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14) CCGTTGGTCTCTCTCATCTCC 0.612 NA 11 133 0 0 0.000978 0 0 SNX8 29886 broad.mit.edu 37 7 2303980 2303980 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:2303980C>A uc003slw.2 - 6 778 c.735G>T c.(733-735)CGG>CGT p.R245R NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 245 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) TGTCGATGGCCCGCGATGCGA 0.577 NA 11 56 5.16669e-11 6.61579e-11 0.000978 1 0 FSCN1 6624 broad.mit.edu 37 7 5632887 5632887 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:5632887C>A uc003sou.2 + 1 434 c.320C>A c.(319-321)GCG>GAG p.A107E NM_003088 NP_003079 Q16658 FSCN1_HUMAN fascin 1 107 actin filament bundle assembly|cell migration|cell proliferation cell junction|cytoplasm|filopodium|invadopodium|stress fiber actin filament binding|drug binding|protein binding, bridging ovary(1) 1 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13) CAGTCCGAGGCGCACCGGCGC 0.697 NA 10 19 0.00829132 0.00878497 0.008291 1 0 RNF216 54476 broad.mit.edu 37 7 5662683 5662684 + Missense_Mutation DNP CG CG GC rs139859373 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CG CG - - CG CG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:5662683_5662684CG>GC uc003soy.1 - 17 2598_2599 c.2408_2409CG>GC c.(2407-2409)GCG>GGC p.A803G RNF216_uc010ksz.1_Missense_Mutation_p.A425G|RNF216_uc010kta.1_Missense_Mutation_p.A425G|RNF216_uc011jwj.1_Missense_Mutation_p.A425G|RNF216_uc003sox.1_Missense_Mutation_p.A860G NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 803 Pro-rich. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) AGGGTGGGTGCGCGAAGGCATA 0.663 NA 47 152 0 0 0.004672 0 0 RNF216 54476 broad.mit.edu 37 7 5752387 5752387 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:5752387G>A uc003soy.1 - 12 1960 c.1770C>T c.(1768-1770)GCC>GCT p.A590A RNF216_uc010ksz.1_Silent_p.A212A|RNF216_uc010kta.1_Silent_p.A212A|RNF216_uc011jwj.1_Silent_p.A212A|RNF216_uc003sox.1_Silent_p.A647A NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 590 IBR-type. apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) CCTCCTCCTCGGCTTTTCGCT 0.562 NA 12 44 0 0 0.001855 0 0 COL28A1 340267 broad.mit.edu 37 7 7412926 7412926 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:7412926G>C uc003src.1 - 32 2728 c.2611C>G c.(2611-2613)CTG>GTG p.L871V COL28A1_uc011jxe.1_Missense_Mutation_p.L554V NM_001037763 NP_001032852 Q2UY09 COSA1_HUMAN collagen, type XXVIII precursor 871 VWFA 2. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity skin(3) 3 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) CCTTCCCCCAGATACTGCATG 0.478 NA 5 119 0 0 0.000602 0 0 THSD7A 221981 broad.mit.edu 37 7 11418709 11418709 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:11418709G>A uc003ssf.3 - 25 5041 c.4789C>T c.(4789-4791)CCA>TCA p.P1597S uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.P101S NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1597 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGCCCAAATGGCTGTAGAAAC 0.458 NA HNSCC(18;0.044) 10 64 0 0 0.000978 0 0 DGKB 1607 broad.mit.edu 37 7 14378256 14378256 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:14378256C>A uc003ssz.2 - 22 2196 c.2009G>T c.(2008-2010)GGA>GTA p.G670V DGKB_uc011jxt.1_Missense_Mutation_p.G651V|DGKB_uc003sta.2_Missense_Mutation_p.G670V|DGKB_uc011jxu.1_Missense_Mutation_p.G669V NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 670 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) AAGATTGGATCCTCCATGCAT 0.403 NA 11 176 3.86212e-05 4.30661e-05 0.008291 1 0 DGKB 1607 broad.mit.edu 37 7 14797349 14797349 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:14797349T>A uc003ssz.2 - 2 265 c.78A>T c.(76-78)ACA>ACT p.T26T DGKB_uc011jxt.1_Silent_p.T26T|DGKB_uc003sta.2_Silent_p.T26T|DGKB_uc011jxu.1_Silent_p.T26T|DGKB_uc011jxv.1_Silent_p.T26T NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 26 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TTAATTTCTTTGTAGAATCTA 0.323 NA 11 87 0 0 0.000978 0 0 TMEM195 392636 broad.mit.edu 37 7 15430530 15430530 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:15430530C>G uc003stb.1 - 7 847 c.677G>C c.(676-678)GGC>GCC p.G226A NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 226 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 ACGATTTCTGCCTATGAGACA 0.224 NA 13 24 0 0 0.004007 0 0 SNX13 23161 broad.mit.edu 37 7 17836494 17836494 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:17836494C>T uc003stw.1 - 25 2828 c.2615G>A c.(2614-2616)AGA>AAA p.R872K SNX13_uc003stv.2_Missense_Mutation_p.R861K|SNX13_uc010kuc.2_Missense_Mutation_p.R658K|SNX13_uc010kub.2_Missense_Mutation_p.R267K Q9Y5W8 SNX13_HUMAN SubName: Full=Putative uncharacterized protein SNX13; SubName: Full=Sorting nexin 13, isoform CRA_g; 872 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity central_nervous_system(2)|kidney(1) 3 Lung NSC(10;0.0261)|all_lung(11;0.0521) TACTCTTGTTCTCATTCGAAT 0.328 NA 92 168 0 0 0.00361 0 0 TMEM196 256130 broad.mit.edu 37 7 19761724 19761724 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:19761724G>T uc011jyg.1 - 4 578 c.493C>A c.(493-495)CAG>AAG p.Q165K TMEM196_uc003sur.2_RNA NM_152774 NP_689987 Q5HYL7 TM196_HUMAN transmembrane protein 196 171 integral to membrane 0 AATATCAGCTGTGGTCCTCCA 0.318 NA 13 128 1.02788e-11 1.33778e-11 0.00499 1 0 ITGB8 3696 broad.mit.edu 37 7 20421493 20421493 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:20421493C>T uc003suu.2 + 6 1650 c.945C>T c.(943-945)GTC>GTT p.V315V ITGB8_uc011jyh.1_Silent_p.V180V|ITGB8_uc003sut.2_Silent_p.V315V NM_002214 NP_002205 P26012 ITB8_HUMAN integrin, beta 8 precursor 315 VWFA.|Extracellular (Potential). cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity skin(3) 3 ACGTCTATGTCAAATCGACAA 0.398 NA 49 24 0 0 0.00361 0 0 ABCB5 340273 broad.mit.edu 37 7 20762679 20762679 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:20762679C>G uc003suw.3 + 12 1673 c.1127C>G c.(1126-1128)ACT>AGT p.T376S ABCB5_uc010kuh.2_Missense_Mutation_p.T821S|ABCB5_uc003sux.1_5'UTR NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 376 Extracellular (Potential).|ABC transmembrane type-1. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 CAAAATGCAACTAACATGGGA 0.378 NA 11 142 0 0 0.001855 0 0 HOXA9 3205 broad.mit.edu 37 7 27203226 27203226 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:27203226T>C uc003syt.2 - 2 888 c.815A>G c.(814-816)GAG>GGG p.E272G NM_152739 NP_689952 P31269 HXA9_HUMAN homeobox A9 272 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|central_nervous_system(1) 2 ATGGCATCACTCGTCTTTTGC 0.493 NA T NUP98|MSI2 AML* 106 147 0 0 0.00361 0 0 TBX20 57057 broad.mit.edu 37 7 35288379 35288379 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:35288379A>G uc011kas.1 - 3 466 c.455T>C c.(454-456)ATC>ACC p.I152T NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 152 T-box. I -> M (in ASD4). nucleus DNA binding central_nervous_system(1) 1 CACAGGGACGATGTCCATCAG 0.597 NA 36 39 0 0 0.003271 0 0 Unknown 0 broad.mit.edu 37 7 39873503 39873503 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:39873503C>A uc010kxp.2 + 1 691 c.334C>A c.(334-336)CCG>ACG p.P112T SubName: Full=Similar to sequence-specific single-stranded-DNA-binding protein; NA CGATGGGATGCCGGGAGGCCC 0.592 NA 19 23 8.34094e-07 9.72366e-07 0.008871 1 0 MYL7 58498 broad.mit.edu 37 7 44180373 44180373 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:44180373A>T uc003tkg.2 - 3 143 c.131T>A c.(130-132)ATC>AAC p.I44N NM_021223 NP_067046 Q01449 MLRA_HUMAN myosin light chain 2a 44 EF-hand 1. actin filament-based movement|smooth muscle contraction A band|myosin complex ATPase activity, coupled|calcium ion binding|microfilament motor activity 0 ATTCTGGTCGATACAGCTGAA 0.647 NA 8 14 0 0 0.008291 0 0 PKD1L1 168507 broad.mit.edu 37 7 47882629 47882629 + Silent SNP C C T rs148252365 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:47882629C>T uc003tny.1 - 34 5376 c.5376G>A c.(5374-5376)CTG>CTA p.L1792L NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1792 Cytoplasmic (Potential). cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 GATGGCCCGGCAGGGAAGCTT 0.468 NA 10 57 0 0 0.006214 0 0 ABCA13 154664 broad.mit.edu 37 7 48319268 48319268 + Nonsense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:48319268G>A uc003toq.2 + 18 8502 c.8477G>A c.(8476-8478)TGG>TAG p.W2826* ABCA13_uc010kys.1_5'Flank NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2826 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ATAGCTCTCTGGAGGAAAGGA 0.333 NA 60 97 0 0 0.00361 0 0 POM121L12 285877 broad.mit.edu 37 7 53104131 53104131 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:53104131T>A uc003tpz.2 + 1 783 c.767T>A c.(766-768)CTG>CAG p.L256Q NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 256 0 CCTTCCGTGCTGGTCCAGCCC 0.647 NA 10 61 0 0 0.006214 0 0 ZNF716 441234 broad.mit.edu 37 7 57528880 57528880 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:57528880A>T uc011kdi.1 + 4 825 c.713A>T c.(712-714)GAG>GTG p.E238V NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 CATACTGGAGAGAAACCCTAC 0.378 NA 8 9 0 0 0.004482 0 0 WBSCR28 135886 broad.mit.edu 37 7 73275552 73275552 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:73275552A>T uc003tzk.2 + 1 64 c.28A>T c.(28-30)AGC>TGC p.S10C RFC2_uc011kfa.1_Intron|WBSCR28_uc003tzl.2_5'UTR NM_182504 NP_872310 Q6UE05 WBS28_HUMAN hypothetical protein LOC135886 10 integral to membrane breast(1) 1 Lung NSC(55;0.159) AGTCAGATCCAGCCTTTTGGG 0.622 NA 13 30 0 0 0.004007 0 0 GTF2IRD1 9569 broad.mit.edu 37 7 74004251 74004251 + Nonsense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:74004251A>T uc003uaq.2 + 23 2830 c.2437A>T c.(2437-2439)AAA>TAA p.K813* GTF2IRD1_uc010lbq.2_Nonsense_Mutation_p.K830*|GTF2IRD1_uc003uap.2_Nonsense_Mutation_p.K798*|GTF2IRD1_uc003uar.1_Nonsense_Mutation_p.K798* NM_016328 NP_057412 Q9UHL9 GT2D1_HUMAN GTF2I repeat domain containing 1 isoform 1 813 GTF2I-like 5. nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(4) 4 CTTCAACGAGAAATACGGTCA 0.607 NA 3 24 0 0 0.004672 0 0 HGF 3082 broad.mit.edu 37 7 81381537 81381537 + Missense_Mutation SNP T T C rs73381183 by1000genomes TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:81381537T>C uc003uhl.2 - 5 689 c.524A>G c.(523-525)AAC>AGC p.N175S HGF_uc003uhm.2_Missense_Mutation_p.N170S|HGF_uc003uhn.1_Missense_Mutation_p.N175S|HGF_uc003uho.1_Missense_Mutation_p.N170S|HGF_uc003uhp.2_Missense_Mutation_p.N175S NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 175 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 TCGACAGTAGTTTTCCTGTAG 0.423 NA 28 50 0 0 0.007291 0 0 GRM3 2913 broad.mit.edu 37 7 86415918 86415918 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:86415918C>G uc003uid.2 + 3 1909 c.810C>G c.(808-810)CGC>CGG p.R270R GRM3_uc010lef.2_Silent_p.R268R|GRM3_uc010leg.2_Silent_p.R142R|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 270 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAACGCGCGCGTCGTGGTCC 0.652 GBM(52;969 1098 3139 52280) NA 15 59 0 0 0.003163 0 0 ABCB1 5243 broad.mit.edu 37 7 87179246 87179246 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:87179246C>A uc003uiz.1 - 14 1893 c.1475G>T c.(1474-1476)CGT>CTT p.R492L ABCB1_uc011khc.1_Missense_Mutation_p.R428L NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 492 ABC transporter 1.|Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GACATTTTCACGGCCATAGCG 0.438 NA 80 183 2.17451e-35 3.4227e-35 0.00361 1 0 AKAP9 10142 broad.mit.edu 37 7 91691630 91691630 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:91691630G>T uc003ulg.2 + 24 6032 c.5807G>T c.(5806-5808)AGG>ATG p.R1936M AKAP9_uc003ulf.2_Missense_Mutation_p.R1936M|AKAP9_uc003uli.2_Missense_Mutation_p.R1559M NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 1948 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) CTTTTTGAAAGGCAAATTCAG 0.348 NA T BRAF papillary thyroid 18 119 1.45105e-14 1.97706e-14 0.006122 1 0 CDK6 1021 broad.mit.edu 37 7 92244466 92244466 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:92244466C>T uc011khw.1 - 8 1381 c.969G>A c.(967-969)CTG>CTA p.L323L CDK6_uc010lez.2_Silent_p.L323L NM_001259 NP_001250 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 323 cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|skin(1) 2 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AGGCTGTATTCAGCTCCGAGG 0.587 NA T MLLT10 ALL 12 33 0 0 0.001368 0 0 COL1A2 1278 broad.mit.edu 37 7 94039100 94039100 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:94039100T>C uc003ung.1 + 19 1473 c.1002T>C c.(1000-1002)GGT>GGC p.G334G COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 334 G -> C (in OI2A). axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GCCCTGTTGGTGCTGCCGGTG 0.567 NA HNSCC(75;0.22) 13 64 0 0 0.001368 0 0 TECPR1 25851 broad.mit.edu 37 7 97862145 97862145 + Silent SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:97862145C>G uc003upg.2 - 12 2017 c.1812G>C c.(1810-1812)GTG>GTC p.V604V TECPR1_uc003uph.1_Silent_p.V534V NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 604 integral to membrane protein binding pancreas(1) 1 CCACCTGCTCCACGGCCTGCT 0.438 NA 7 11 0 0 0.001984 0 0 ARPC1B 10095 broad.mit.edu 37 7 98985702 98985702 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:98985702C>A uc003upz.2 + 4 299 c.210C>A c.(208-210)TGC>TGA p.C70* ARPC1A_uc011kit.1_RNA|ARPC1B_uc003uqa.2_Nonsense_Mutation_p.C70*|ARPC1B_uc003uqb.2_Nonsense_Mutation_p.C70*|ARPC1B_uc003uqc.2_Nonsense_Mutation_p.C70*|ARPC1B_uc003uqd.2_5'Flank NM_005720 NP_005711 O15143 ARC1B_HUMAN actin related protein 2/3 complex subunit 1B 70 WD 2. cellular component movement|regulation of actin filament polymerization Arp2/3 protein complex|cytoplasm actin binding|structural constituent of cytoskeleton 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) TTGTGACCTGCGGCACAGACC 0.642 NA 16 55 3.45872e-05 3.8816e-05 0.004007 1 0 GAL3ST4 79690 broad.mit.edu 37 7 99757918 99757918 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:99757918A>T uc003utt.2 - 3 2111 c.1094T>A c.(1093-1095)CTG>CAG p.L365Q C7orf43_uc011kjj.1_5'Flank|C7orf43_uc003utr.2_5'Flank|C7orf43_uc003uts.2_5'Flank|GAL3ST4_uc003utu.2_Missense_Mutation_p.L365Q|GAL3ST4_uc010lgq.2_Missense_Mutation_p.L303Q NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN galactose-3-O-sulfotransferase 4 365 Lumenal (Potential). cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(3) 3 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) AGCCCAGTCCAGGTTGTTCCA 0.637 NA 5 67 0 0 0.001168 0 0 TSC22D4 81628 broad.mit.edu 37 7 100071909 100071909 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:100071909C>T uc003uva.2 - 3 1672 c.917G>A c.(916-918)AGC>AAC p.S306N TSC22D4_uc003uvb.2_Missense_Mutation_p.S67N|TSC22D4_uc011kjv.1_Missense_Mutation_p.S67N|TSC22D4_uc010lgx.2_Missense_Mutation_p.S306N|TSC22D4_uc003uvc.3_Missense_Mutation_p.S306N NM_030935 NP_112197 Q9Y3Q8 T22D4_HUMAN TSC22 domain family, member 4 306 negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding transcription factor activity breast(2) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) ATCATCGTCGCTGTCTAGGTG 0.607 NA 5 56 0 0 0.000602 0 0 SLC12A9 56996 broad.mit.edu 37 7 100451828 100451828 + Missense_Mutation SNP C C A rs145131568 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:100451828C>A uc003uwp.2 + 2 151 c.9C>A c.(7-9)AGC>AGA p.S3R SLC12A9_uc003uwo.1_Missense_Mutation_p.S3R|SLC12A9_uc003uwq.2_Missense_Mutation_p.S3R|SLC12A9_uc011kki.1_Intron|SLC12A9_uc003uwr.2_5'Flank|SLC12A9_uc003uws.2_5'Flank|SLC12A9_uc003uwt.2_5'Flank NM_020246 NP_064631 Q9BXP2 S12A9_HUMAN solute carrier family 12 (potassium/chloride 3 Cytoplasmic (Potential). integral to membrane|plasma membrane cation:chloride symporter activity 0 Lung NSC(181;0.041)|all_lung(186;0.0581) CCATGGCCAGCGAGAGCTCAC 0.637 NA 19 43 8.10497e-08 9.72151e-08 0.010504 1 0 PIK3CG 5294 broad.mit.edu 37 7 106508033 106508033 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:106508033C>A uc003vdv.3 + 2 112 c.27C>A c.(25-27)CCC>CCA p.P9P PIK3CG_uc003vdu.2_Silent_p.P9P|PIK3CG_uc003vdw.2_Silent_p.P9P NM_002649 NP_002640 P48736 PK3CG_HUMAN phosphoinositide-3-kinase, catalytic, gamma 9 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1) 38 ATAAACAGCCCGTGGTGCTGA 0.582 NA 16 69 3.99206e-14 5.4138e-14 0.007413 1 0 PNPLA8 50640 broad.mit.edu 37 7 108155042 108155042 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:108155042T>A uc003vff.1 - 4 1301 c.894A>T c.(892-894)GTA>GTT p.V298V PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Silent_p.V298V|PNPLA8_uc003vfi.1_Silent_p.V198V|PNPLA8_uc003vfj.1_Silent_p.V298V|PNPLA8_uc003vfk.1_Silent_p.V198V NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 298 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 CTAAAGCTTGTACACCTTCCG 0.418 NA 28 94 0 0 0.005443 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518241 113518241 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:113518241G>T uc010ljy.1 - 4 2937 c.2906C>A c.(2905-2907)CCT>CAT p.P969H NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 969 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TTTAGACTCAGGATAAGGGTG 0.378 NA 39 82 8.69298e-16 1.21284e-15 0.006999 1 0 ANKRD7 56311 broad.mit.edu 37 7 117876164 117876164 + Nonsense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:117876164A>T uc003vji.2 + 4 711 c.538A>T c.(538-540)AAA>TAA p.K180* NM_019644 NP_062618 Q92527 ANKR7_HUMAN ankyrin repeat domain 7 180 ANK 4. male gonad development 0 TCTTCTGGAGAAAGGGGCTGA 0.259 NA 43 87 0 0 0.00361 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121624102 121624102 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:121624102G>T uc003vjy.2 + 8 1254 c.859G>T c.(859-861)GAG>TAG p.E287* PTPRZ1_uc003vjz.2_Nonsense_Mutation_p.E287* NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 287 Extracellular (Potential).|Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CAATTTTCGAGAGCAACAGTA 0.343 NA 27 90 1.26454e-06 1.47024e-06 0.005443 1 0 RNF133 168433 broad.mit.edu 37 7 122338610 122338610 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:122338610C>A uc003vkj.1 - 1 599 c.363G>T c.(361-363)GAG>GAT p.E121D CADPS2_uc010lkp.2_Intron|CADPS2_uc010lkq.2_Intron NM_139175 NP_631914 Q8WVZ7 RN133_HUMAN ring finger protein 133 121 PA. endoplasmic reticulum membrane|integral to membrane ligase activity|zinc ion binding skin(1) 1 TGGCTCCCTTCTCAGTTGCCA 0.458 Colon(198;1778 2057 7449 19869 45985) NA 53 101 4.25531e-23 6.35383e-23 0.00361 1 0 ZNF800 168850 broad.mit.edu 37 7 127013766 127013766 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:127013766G>A uc003vlx.1 - 5 1887 c.1624C>T c.(1624-1626)CAT>TAT p.H542Y ZNF800_uc003vlw.1_Missense_Mutation_p.H445Y|ZNF800_uc003vly.1_Missense_Mutation_p.H542Y|ZNF800_uc010lla.2_Missense_Mutation_p.H542Y NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 542 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GACTTTTTATGAACCACAGTT 0.338 NA 20 73 0 0 0.001882 0 0 FSCN3 29999 broad.mit.edu 37 7 127239488 127239488 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:127239488C>A uc003vmd.1 + 5 1393 c.1174C>A c.(1174-1176)CGA>AGA p.R392R FSCN3_uc011koh.1_Silent_p.R258R|FSCN3_uc010llc.1_Silent_p.R392R NM_020369 NP_065102 Q9NQT6 FSCN3_HUMAN fascin 3 392 actin cytoskeleton|cytoplasm actin filament binding|protein binding, bridging ovary(1) 1 CCTTGTATTGCGAGGTCGTTA 0.517 NA 24 63 1.85244e-09 2.31754e-09 0.00333 1 0 CPA5 93979 broad.mit.edu 37 7 130008265 130008265 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:130008265A>C uc010lmd.1 + 14 1758 c.1138A>C c.(1138-1140)ATC>CTC p.I380L CPA5_uc003vps.2_Missense_Mutation_p.I380L|CPA5_uc003vpt.2_Silent_p.G351G|CPA5_uc010lme.1_Missense_Mutation_p.I380L|CPA5_uc003vpu.1_Missense_Mutation_p.I380L|uc003vpv.1_RNA NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 380 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) GGCCAGTGGGATCACCGTCGA 0.547 NA 7 65 0 0 0.007835 0 0 CPA5 93979 broad.mit.edu 37 7 130008287 130008287 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:130008287A>T uc010lmd.1 + 14 1780 c.1160A>T c.(1159-1161)GAC>GTC p.D387V CPA5_uc003vps.2_Missense_Mutation_p.D387V|CPA5_uc003vpt.2_Missense_Mutation_p.T359S|CPA5_uc010lme.1_Missense_Mutation_p.D387V|CPA5_uc003vpu.1_Missense_Mutation_p.D387V|uc003vpv.1_RNA NM_001127441 NP_001120913 Q8WXQ8 CBPA5_HUMAN carboxypeptidase A5 isoform 1 387 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Melanoma(18;0.0435) TGGGCCTATGACAGTGGCATC 0.562 NA 21 65 0 0 0.00361 0 0 SLC35B4 84912 broad.mit.edu 37 7 133986824 133986824 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:133986824G>T uc003vrn.2 - 5 707 c.383C>A c.(382-384)TCT>TAT p.S128Y SLC35B4_uc010lmk.2_Translation_Start_Site|SLC35B4_uc010lml.1_Missense_Mutation_p.S60Y|SLC35B4_uc003vro.3_Missense_Mutation_p.S128Y NM_032826 NP_116215 Q969S0 S35B4_HUMAN solute carrier family 35, member B4 128 Helical; (Potential). Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity skin(1) 1 TATCCCCACAGACACCAGGGC 0.368 NA 22 104 9.04412e-07 1.05293e-06 0.004656 1 0 AKR1B10 57016 broad.mit.edu 37 7 134222393 134222393 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:134222393C>A uc003vrr.2 + 7 1041 c.721C>A c.(721-723)CAC>AAC p.H241N NM_020299 NP_064695 O60218 AK1BA_HUMAN aldo-keto reductase family 1, member B10 241 cellular aldehyde metabolic process|digestion|steroid metabolic process cytoplasm aldo-keto reductase (NADP) activity|protein binding skin(5) 5 TGCTGCAAAGCACAAAAAAAC 0.453 NA 46 69 3.54909e-21 5.2189e-21 0.002852 1 0 OR9A4 130075 broad.mit.edu 37 7 141618891 141618891 + Silent SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:141618891C>T uc003vwu.1 + 1 216 c.216C>T c.(214-216)GTC>GTT p.V72V NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) AGATCCTGGTCACAACCATAA 0.502 NA 13 136 0 0 0.001855 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141164 143141164 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:143141164G>A uc011ktg.1 + 1 619 c.619G>A c.(619-621)GCT>ACT p.A207T uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 207 Cytoplasmic (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) AATGCCCACTGCTGTCTTTTT 0.453 NA 56 89 0 0 0.00361 0 0 ARHGEF35 445328 broad.mit.edu 37 7 143884027 143884027 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:143884027G>A uc003wdz.1 - 2 1568 c.1450C>T c.(1450-1452)CTT>TTT p.L484F NM_001003702 NP_001003702 A5YM69 ARG35_HUMAN Rho guanine nucleotide exchange factor (GEF) 484 0 acatatcaaaGTACTGATAGA 0.244 NA 9 8 0 0 0.004482 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146471396 146471396 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:146471396C>T uc003weu.1 + 2 647 c.131C>T c.(130-132)CCC>CTC p.P44L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 44 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCTGGACTCCCCCATGTGGCT 0.443 NA HNSCC(39;0.1) 5 27 0 0 0.000602 0 0 ZNF777 27153 broad.mit.edu 37 7 149152848 149152848 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:149152848T>A uc003wfv.2 - 2 429 c.266A>T c.(265-267)CAA>CTA p.Q89L NM_015694 NP_056509 Q9ULD5 ZN777_HUMAN zinc finger protein 777 89 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) AGAAGTCTCTTGCTCAGAAGC 0.602 NA 58 69 0 0 0.00361 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269316 150269316 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:150269316G>A uc003whl.2 + 3 240 c.158G>A c.(157-159)CGG>CAG p.R53Q GIMAP4_uc011kuu.1_5'UTR|GIMAP4_uc011kuv.1_Missense_Mutation_p.R67Q NM_018326 NP_060796 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 53 GTP binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ATCCTTGGCCGGAAAGTGTTT 0.473 NA 3 50 0 0 0.004672 0 0 ACCN3 9311 broad.mit.edu 37 7 150748263 150748263 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:150748263C>A uc003win.2 + 6 1439 c.1071C>A c.(1069-1071)GCC>GCA p.A357A ACCN3_uc003wio.2_Silent_p.A357A|ACCN3_uc003wip.2_Silent_p.A357A|ACCN3_uc003wiq.2_Intron NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 357 Extracellular (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGCAGATGCCATGCTTCGCA 0.751 NA 6 7 8.12818e-05 8.98324e-05 0.001984 1 0 SLC4A2 6522 broad.mit.edu 37 7 150771574 150771574 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:150771574A>G uc003wit.3 + 18 3135 c.2879A>G c.(2878-2880)CAG>CGG p.Q960R SLC4A2_uc011kve.1_Missense_Mutation_p.Q951R|SLC4A2_uc003wiu.3_Missense_Mutation_p.Q946R|SLC4A2_uc003wiv.3_Missense_Mutation_p.Q154R NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 960 Membrane (anion exchange). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) ACCTATACCCAGGTAAGGTGC 0.582 NA 8 71 0 0 0.00308 0 0 MLL3 58508 broad.mit.edu 37 7 151877045 151877045 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:151877045T>C uc003wla.2 - 37 7535 c.7316A>G c.(7315-7317)TAT>TGT p.Y2439C MLL3_uc003wkz.2_Missense_Mutation_p.Y1500C|MLL3_uc003wky.2_5'Flank NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 2439 Pro-rich. 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) GTTCCCAGGATAGGGAGGTGG 0.532 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 52 84 0 0 0.00361 0 0 MYOM2 9172 broad.mit.edu 37 8 2007299 2007299 + Missense_Mutation SNP C C A rs142466938 byFrequency TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:2007299C>A uc003wpx.3 + 6 724 c.586C>A c.(586-588)CAG>AAG p.Q196K MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 196 Ig-like C2-type 1. 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) TCTGATTTGCCAGGCGGCTGA 0.512 NA 28 53 1.75199e-13 2.34674e-13 0.007291 1 0 MYOM2 9172 broad.mit.edu 37 8 2054306 2054306 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:2054306G>A uc003wpx.3 + 23 3055 c.2917G>A c.(2917-2919)GAT>AAT p.D973N MYOM2_uc011kwi.1_Missense_Mutation_p.D398N NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 973 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) AAAGAATCCGGATAAGGAGGA 0.413 NA 8 52 0 0 0.00308 0 0 CSMD1 64478 broad.mit.edu 37 8 3046423 3046423 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:3046423C>T uc011kwk.1 - 35 5902 c.5512G>A c.(5512-5514)GGC>AGC p.G1838S CSMD1_uc011kwj.1_Missense_Mutation_p.G1230S|CSMD1_uc003wqe.2_Missense_Mutation_p.G994S|CSMD1_uc010lrg.2_5'Flank NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1838 Extracellular (Potential).|CUB 11. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ATTCCCGAGCCCTCCGTAACT 0.433 NA 7 9 0 0 0.001984 0 0 PRSS55 203074 broad.mit.edu 37 8 10387130 10387130 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:10387130G>T uc003wta.2 + 2 283 c.268G>T c.(268-270)GAA>TAA p.E90* uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 90 Extracellular (Potential).|Peptidase S1. proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 GGCAAGAAGTGAACCTTTCTG 0.527 NA 92 209 3.71036e-49 5.95844e-49 0.00361 1 0 PRSS55 203074 broad.mit.edu 37 8 10396253 10396253 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:10396253C>G uc003wta.2 + 5 1024 c.1009C>G c.(1009-1011)CTC>GTC p.L337V uc010lru.2_Intron|PRSS55_uc003wtb.2_Intron NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 337 Helical; (Potential). proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CAGATCCTGGCTCCTGCTCTG 0.522 NA 12 183 0 0 0.001368 0 0 RP1L1 94137 broad.mit.edu 37 8 10466457 10466457 + Silent SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:10466457G>A uc003wtc.2 - 4 5380 c.5151C>T c.(5149-5151)CCC>CCT p.P1717P NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 1717 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) TAGTGCTCGTGGGGTCCGTGT 0.657 NA 29 99 0 0 0.008361 0 0 MTMR7 9108 broad.mit.edu 37 8 17188770 17188770 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:17188770C>G uc003wxm.2 - 7 993 c.754G>C c.(754-756)GCT>CCT p.A252P MTMR7_uc003wxn.2_Missense_Mutation_p.A31P NM_004686 NP_004677 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 252 Myotubularin phosphatase.|Substrate binding (By similarity). protein tyrosine phosphatase activity skin(1) 1 Colorectal(111;0.112) TTCCCTGCAGCACGATTTGCC 0.383 NA 12 39 0 0 0.001368 0 0 LZTS1 11178 broad.mit.edu 37 8 20110354 20110354 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:20110354A>T uc003wzr.2 - 2 1199 c.1088T>A c.(1087-1089)CTC>CAC p.L363H LZTS1_uc010ltg.1_Missense_Mutation_p.L363H NM_021020 NP_066300 Q9Y250 LZTS1_HUMAN leucine zipper, putative tumor suppressor 1 363 Potential. cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207) GTAGGACCTGAGCTTGGTCTC 0.642 NA 8 28 0 0 0.008291 0 0 DOK2 9046 broad.mit.edu 37 8 21766921 21766921 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:21766921G>T uc003wzy.1 - 5 1233 c.1140C>A c.(1138-1140)GGC>GGA p.G380G DOK2_uc003wzx.1_Silent_p.G380G|DOK2_uc003wzz.1_Silent_p.G226G|DOK2_uc010lth.1_Silent_p.G226G NM_003974 NP_003965 O60496 DOK2_HUMAN docking protein 2 380 blood coagulation|leukocyte migration cytosol identical protein binding|insulin receptor binding 0 Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608) CATGCTGGAGGCCAGCAGGGT 0.617 NA 15 52 2.32078e-09 2.89932e-09 0.003163 1 0 LGI3 203190 broad.mit.edu 37 8 22005941 22005941 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:22005941T>A uc003xav.2 - 8 1668 c.1379A>T c.(1378-1380)CAG>CTG p.Q460L LGI3_uc010ltu.2_Missense_Mutation_p.Q436L NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 460 EAR 6. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) GGGCAGGGCCTGCACCTCCGA 0.652 NA 4 21 0 0 0.009096 0 0 NEFL 4747 broad.mit.edu 37 8 24813237 24813237 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:24813237A>T uc003xee.2 - 1 895 c.793T>A c.(793-795)TAC>AAC p.Y265N NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 265 Rod.|Coil 2A. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) AGCTTCTCGTACTGCGCGCGG 0.632 NA 4 30 0 0 0.009096 0 0 DOCK5 80005 broad.mit.edu 37 8 25101272 25101273 + Missense_Mutation DNP GG GG AT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:25101272_25101273GG>AT uc003xeg.2 + 2 263_264 c.126_127GG>AT c.(124-129)GAGGGT>GAATGT p.G43C DOCK5_uc010luf.1_RNA|DOCK5_uc003xef.2_Missense_Mutation_p.G43C NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 43 SH3. cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) AGATGTACGAGGGTAAGTCTGG 0.431 Pancreas(145;34 1887 3271 10937 30165) NA 5 17 0 0 0.004672 0 0 DOCK5 80005 broad.mit.edu 37 8 25209284 25209284 + Missense_Mutation SNP G G T rs139516143 by1000genomes TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:25209284G>T uc003xeg.2 + 27 2929 c.2792G>T c.(2791-2793)CGG>CTG p.R931L DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.R645L|DOCK5_uc003xei.2_Missense_Mutation_p.R501L|DOCK5_uc003xej.2_RNA NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 931 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) ATAATGGAACGGCTGCTGAGA 0.512 Pancreas(145;34 1887 3271 10937 30165) NA 6 26 3.59834e-05 4.02792e-05 0.001168 1 0 C8orf80 389643 broad.mit.edu 37 8 27898609 27898609 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:27898609C>T uc003xgm.3 - 13 1713 c.1570G>A c.(1570-1572)GCC>ACC p.A524T NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 524 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GAAGTCCTGGCGGTCCTGACC 0.587 NA 5 15 0 0 0.000602 0 0 ZNF395 55893 broad.mit.edu 37 8 28304710 28304710 + Translation_Start_Site SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:28304710C>A uc003xgt.2 - 7 940 c.-80G>T c.(-82--78)TAGGC>TATGC FBXO16_uc003xgu.2_Missense_Mutation_p.R274M|FBXO16_uc003xgv.2_Missense_Mutation_p.R261M|FBXO16_uc003xgw.2_Missense_Mutation_p.R261M NM_018660 NP_061130 Q9H8N7 ZN395_HUMAN zinc finger protein 395 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TTTTCTTAGCCTAGTTCTGTC 0.343 NA 21 100 7.45023e-12 9.75465e-12 0.010504 1 0 DDHD2 23259 broad.mit.edu 37 8 38095615 38095615 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:38095615G>C uc003xlb.2 + 5 887 c.510G>C c.(508-510)GTG>GTC p.V170V DDHD2_uc003xla.2_Silent_p.V170V|DDHD2_uc003xlc.2_Silent_p.V170V|DDHD2_uc011lbl.1_Intron NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 170 lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) AGCTTATGGTGCATTACCAGC 0.413 NA 18 70 0 0 0.007413 0 0 ANK1 286 broad.mit.edu 37 8 41563755 41563755 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:41563755C>A uc003xok.2 - 18 2087 c.2003G>T c.(2002-2004)GGA>GTA p.G668V NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_5'UTR|ANK1_uc003xoi.2_Missense_Mutation_p.G668V|ANK1_uc003xoj.2_Missense_Mutation_p.G668V|ANK1_uc003xol.2_Missense_Mutation_p.G668V|ANK1_uc003xom.2_Missense_Mutation_p.G701V NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 668 ANK 20.|89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGGAGTGAGTCCGCTCTGCAA 0.448 NA 14 19 0.000151284 0.000166776 0.001855 1 0 PRKDC 5591 broad.mit.edu 37 8 48772259 48772259 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:48772259C>G uc003xqi.2 - 47 6177 c.6120G>C c.(6118-6120)ATG>ATC p.M2040I PRKDC_uc003xqj.2_Missense_Mutation_p.M2040I|PRKDC_uc011ldh.1_Intron NM_006904 NP_008835 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic 2040 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3) 34 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CAAATTGACTCATTTCCTCAC 0.423 Esophageal Squamous(79;1091 1253 12329 31680 40677) NA NHEJ 6 96 0 0 0.001168 0 0 RP1 6101 broad.mit.edu 37 8 55533900 55533900 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:55533900G>T uc003xsd.1 + 2 522 c.374G>T c.(373-375)CGG>CTG p.R125L RP1_uc011ldy.1_Missense_Mutation_p.R125L NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 125 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CGGCGCCCGCGGCCCTGGCTC 0.706 Colon(91;1014 1389 7634 14542 40420) NA 16 75 3.99206e-14 5.4138e-14 0.007413 1 0 PENK 5179 broad.mit.edu 37 8 57353894 57353894 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:57353894G>T uc003xsz.2 - 2 822 c.741C>A c.(739-741)GGC>GGA p.G247G PENK_uc003xta.3_Silent_p.G247G NM_006211 NP_006202 P01210 PENK_HUMAN proenkephalin 247 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) AGTAACTTTCGCCTTCTTCGT 0.498 NA 24 121 1.10923e-09 1.39173e-09 0.00278 1 0 CHD7 55636 broad.mit.edu 37 8 61653994 61653994 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:61653994G>T uc003xue.2 + 2 480 c.3G>T c.(1-3)ATG>ATT p.M1I NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAAGAAGATGGCAGATCCAG 0.478 NA 3 15 0.00909568 0.00956747 0.009096 1 0 CLVS1 157807 broad.mit.edu 37 8 62212449 62212449 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:62212449C>A uc003xuh.2 + 2 387 c.63C>A c.(61-63)GCC>GCA p.A21A CLVS1_uc003xug.2_Silent_p.A21A|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.A21A NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 21 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GAGATTTGGCCAAGATGACCC 0.453 NA 14 58 4.3838e-07 5.15185e-07 0.001855 1 0 CSPP1 79848 broad.mit.edu 37 8 68018196 68018196 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:68018196C>G uc003xxi.2 + 10 1242 c.1211C>G c.(1210-1212)GCA>GGA p.A404G CSPP1_uc003xxg.1_Missense_Mutation_p.A396G|CSPP1_uc003xxh.1_RNA|CSPP1_uc003xxj.2_Missense_Mutation_p.A369G|CSPP1_uc003xxk.2_Missense_Mutation_p.A75G NM_001077204 NP_001070672 Q1MSJ5 CSPP1_HUMAN centrosome spindle pole associated protein 1 404 centrosome|microtubule|spindle ovary(3)|breast(2) 5 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153) AGTCCTTTTGCAGGGATGCTC 0.348 NA 11 33 0 0 0.001368 0 0 XKR9 389668 broad.mit.edu 37 8 71646054 71646054 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:71646054T>A uc003xyq.2 + 5 1051 c.517T>A c.(517-519)TGT>AGT p.C173S XKR9_uc010lze.2_Missense_Mutation_p.C173S|XKR9_uc010lzd.2_Missense_Mutation_p.C41S NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 173 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) GGTCTCTTGCTGTGCTATTTC 0.308 NA 11 47 0 0 0.008291 0 0 MSC 9242 broad.mit.edu 37 8 72756411 72756411 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:72756411C>T uc003xyx.1 - 1 321 c.3G>A c.(1-3)ATG>ATA p.M1I uc011lff.1_Intron|uc003xyy.2_RNA NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 1 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) AGCCCGTGGACATCCCGTTGT 0.706 NA 6 28 0 0 0.004482 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766681 77766681 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:77766681G>T uc003yav.2 + 10 7776 c.7389G>T c.(7387-7389)TGG>TGT p.W2463C ZFHX4_uc003yau.1_Missense_Mutation_p.W2508C|ZFHX4_uc003yaw.1_Missense_Mutation_p.W2463C NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2463 C2H2-type 16. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGGAACTCTGGCAGGAACACC 0.473 NA HNSCC(33;0.089) 28 152 9.39395e-14 1.26218e-13 0.00632 1 0 RALYL 138046 broad.mit.edu 37 8 85799963 85799963 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:85799963G>T uc003ycq.3 + 9 1226 c.810G>T c.(808-810)ATG>ATT p.M270I RALYL_uc003ycr.3_Missense_Mutation_p.M270I|RALYL_uc003ycs.3_Missense_Mutation_p.M270I|RALYL_uc010lzy.2_Missense_Mutation_p.M259I|RALYL_uc003yct.3_Missense_Mutation_p.M283I|RALYL_uc003ycu.3_Missense_Mutation_p.M197I|RALYL_uc003ycv.3_Intron NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 270 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 GAGAAGAGATGACAGATGGGA 0.488 NA 13 128 3.27435e-08 3.94915e-08 0.00245 1 0 OSGIN2 734 broad.mit.edu 37 8 90926858 90926858 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:90926858C>A uc003yeg.2 + 4 626 c.280C>A c.(280-282)CAT>AAT p.H94N OSGIN2_uc003yeh.2_Missense_Mutation_p.H138N NM_004337 NP_004328 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family 94 germ cell development|meiosis 0 BRCA - Breast invasive adenocarcinoma(11;0.0344) TACACTTCTTCATCCAGATGC 0.433 NA 5 133 0.00116845 0.00125944 0.001168 1 0 PABPC1 26986 broad.mit.edu 37 8 101721762 101721762 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:101721762T>A uc003yjs.1 - 8 1674 c.1170A>T c.(1168-1170)CGA>CGT p.R390R PABPC1_uc011lhc.1_Silent_p.R358R|PABPC1_uc011lhd.1_Silent_p.R345R|PABPC1_uc003yjt.1_Silent_p.R387R|PABPC1_uc003yju.2_RNA NM_002568 NP_002559 P11940 PABP1_HUMAN poly(A) binding protein, cytoplasmic 1 390 mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation catalytic step 2 spliceosome|cytosol nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity 0 all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206) TGGGAACAGCTCGTACACTTG 0.502 NA 25 157 0 0 0.00333 0 0 NACAP1 83955 broad.mit.edu 37 8 102381147 102381147 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:102381147G>A uc003ykc.1 + 1 27 c.10G>A c.(10-12)GAA>AAA p.E4K NACAP1_uc010mbs.1_RNA NR_002182 SubName: Full=NACAP1 protein; 0 AATGCCTGGCGAAGCCACAGA 0.567 NA 14 28 0 0 0.001855 0 0 LRP12 29967 broad.mit.edu 37 8 105503299 105503299 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:105503299T>C uc003yma.2 - 7 2277 c.2182A>G c.(2182-2184)AGT>GGT p.S728G LRP12_uc003ymb.2_Missense_Mutation_p.S709G|LRP12_uc003ylz.2_Missense_Mutation_p.S134G NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 728 Cytoplasmic (Potential). endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTGAGTGCACTTGTAAGCTGG 0.498 NA 5 77 0 0 0.001984 0 0 ANGPT1 284 broad.mit.edu 37 8 108334269 108334269 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:108334269G>C uc003ymn.2 - 4 1131 c.663C>G c.(661-663)GGC>GGG p.G221G ANGPT1_uc011lhv.1_Silent_p.G21G|ANGPT1_uc003ymo.2_Silent_p.G221G|ANGPT1_uc003ymp.3_Silent_p.G21G NM_001146 NP_001137 Q15389 ANGP1_HUMAN angiopoietin 1 precursor 221 Potential. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway extracellular space|membrane raft|microvillus|plasma membrane receptor tyrosine kinase binding ovary(3)|skin(3)|upper_aerodigestive_tract(1) 7 Breast(1;5.06e-08) OV - Ovarian serous cystadenocarcinoma(57;5.53e-09) GAGTAACCAAGCCTTGAAGGT 0.398 NA 6 89 0 0 0.001168 0 0 NUDCD1 84955 broad.mit.edu 37 8 110255340 110255340 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:110255340T>C uc003ynb.3 - 10 1761 c.1650A>G c.(1648-1650)CTA>CTG p.L550L NUDCD1_uc003yna.2_Silent_p.L521L|NUDCD1_uc010mcl.2_Silent_p.L463L NM_032869 NP_116258 Q96RS6 NUDC1_HUMAN NudC domain containing 1 isoform 1 550 ovary(1)|breast(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;1.56e-12) CATTGGTTTCTAGGCTTGCTA 0.378 NA 79 271 0 0 0.00361 0 0 MTBP 27085 broad.mit.edu 37 8 121483118 121483118 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:121483118A>C uc003ypc.1 + 11 1151 c.1106A>C c.(1105-1107)AAC>ACC p.N369T MTBP_uc011lie.1_RNA NM_022045 NP_071328 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 369 cell cycle arrest skin(2)|ovary(1) 3 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) CCACCTCCCAACCAACTCAGT 0.343 NA 6 76 0 0 0.001168 0 0 KLHL38 340359 broad.mit.edu 37 8 124664095 124664095 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:124664095G>C uc003yqs.1 - 1 1096 c.1072C>G c.(1072-1074)CTG>GTG p.L358V NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 358 Kelch 2. 0 TTGAGTTTCAGGGAGAAGATG 0.577 NA 30 56 0 0 0.004878 0 0 OC90 729330 broad.mit.edu 37 8 133036911 133036912 + Missense_Mutation DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:133036911_133036912CC>AA uc003ytg.2 - 13 1250_1251 c.1250_1251GG>TT c.(1249-1251)GGG>GTT p.G417V OC90_uc011lix.1_Missense_Mutation_p.G417V NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 433 Phospholipase A2-like 3. lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) GCCCAGGGCACCCGAGTCTGCT 0.634 NA 15 15 0 0 0.004672 0 0 FAM135B 51059 broad.mit.edu 37 8 139209824 139209824 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:139209824C>T uc003yuy.2 - 8 929 c.758G>A c.(757-759)CGG>CAG p.R253Q FAM135B_uc003yux.2_Missense_Mutation_p.R154Q|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 253 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) ACGGAGACCCCGGTAAGCGTG 0.607 NA HNSCC(54;0.14) 15 58 0 0 0.004007 0 0 TRAPPC9 83696 broad.mit.edu 37 8 141370270 141370270 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:141370270C>A uc003yvj.2 - 9 1508 c.1374G>T c.(1372-1374)GCG>GCT p.A458A TRAPPC9_uc003yvh.2_Silent_p.A556A|TRAPPC9_uc003yvi.1_Silent_p.A449A NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 458 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 GCATCTGGACCGCAGCCCAGC 0.512 NA 16 42 1.15088e-07 1.36725e-07 0.004007 1 0 CPSF1 29894 broad.mit.edu 37 8 145619449 145619449 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr8:145619449C>G uc003zcj.2 - 33 3886 c.3811G>C c.(3811-3813)GTG>CTG p.V1271L MIR939_hsa-mir-939|MI0005761_5'Flank NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 1271 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) GCCCACATACCCAGAAAACCC 0.672 NSCLC(133;1088 1848 27708 34777 35269) NA 6 27 0 0 0.001984 0 0 FREM1 158326 broad.mit.edu 37 9 14776091 14776091 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:14776091G>T uc003zlm.2 - 25 5143 c.4553C>A c.(4552-4554)GCC>GAC p.A1518D FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_5'Flank|FREM1_uc003zll.2_Missense_Mutation_p.A54D NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1518 CSPG 11. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) GGCCCCTTGGGCCAGTCTCAA 0.607 NA 14 91 1.5842e-08 1.9402e-08 0.001855 1 0 PLAA 9373 broad.mit.edu 37 9 26928119 26928119 + Missense_Mutation SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:26928119T>C uc003zqd.2 - 4 969 c.544A>G c.(544-546)AGA>GGA p.R182G PLAA_uc003zqe.2_Missense_Mutation_p.R182G NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 182 WD 4. phospholipid metabolic process|signal transduction phospholipase A2 activator activity 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) CTCTCACATCTTCCAGCCTTC 0.403 Melanoma(175;2670 2735 14091 35526) NA 9 58 0 0 0.006214 0 0 UNC13B 10497 broad.mit.edu 37 9 35310542 35310542 + Silent SNP T T C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:35310542T>C uc003zwq.2 + 9 1132 c.840T>C c.(838-840)TAT>TAC p.Y280Y UNC13B_uc010mkl.1_Silent_p.Y280Y|UNC13B_uc003zwr.2_Silent_p.Y280Y NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 280 excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) TAGACCAGTATCACGAACAAG 0.507 NA 19 195 0 0 0.006122 0 0 CNTNAP3 79937 broad.mit.edu 37 9 39086814 39086814 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:39086814G>A uc004abi.2 - 20 3492 c.3253C>T c.(3253-3255)CAT>TAT p.H1085Y CNTNAP3_uc004abj.2_Missense_Mutation_p.H1004Y|CNTNAP3_uc011lqr.1_RNA|CNTNAP3_uc004abk.1_Missense_Mutation_p.H1085Y NM_033655 NP_387504 Q9BZ76 CNTP3_HUMAN cell recognition molecule CASPR3 precursor 1085 Laminin G-like 4.|Extracellular (Potential). cell adhesion|cell recognition|signal transduction extracellular region|integral to membrane|plasma membrane receptor binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) GGATTTTGATGTCTATCTAGC 0.323 NA 16 33 0 0 0.006122 0 0 ZNF658 26149 broad.mit.edu 37 9 40774115 40774115 + Missense_Mutation SNP C C G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:40774115C>G uc004abs.2 - 5 1312 c.1160G>C c.(1159-1161)GGG>GCG p.G387A ZNF658_uc010mmm.1_Missense_Mutation_p.G387A|ZNF658_uc010mmn.1_Missense_Mutation_p.G387A NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 387 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCTGCATTTCCCATGTTCATC 0.403 NA 105 169 0 0 0.00361 0 0 PRUNE2 158471 broad.mit.edu 37 9 79328486 79328486 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:79328486C>A uc010mpk.2 - 7 1032 c.908G>T c.(907-909)TGC>TTC p.C303F NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 303 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CACCTGACTGCACAGCTCCAT 0.522 NA 3 14 6.4e-05 7.10182e-05 0.004672 1 0 TLE4 7091 broad.mit.edu 37 9 82340023 82340023 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:82340023G>T uc004ald.2 + 21 3210 c.2361G>T c.(2359-2361)GGG>GGT p.G787G TLE4_uc004alc.2_Silent_p.G762G|TLE4_uc010mpr.2_Silent_p.G641G|TLE4_uc004ale.2_Silent_p.G399G|TLE4_uc011lsq.1_Silent_p.G730G|TLE4_uc010mps.2_Silent_p.G686G|TLE4_uc004alf.2_Silent_p.G701G NM_007005 NP_008936 O60756 BCE1_HUMAN transducin-like enhancer protein 4 Error:Variant_position_missing_in_O60756_after_alignment lung(2)|ovary(1)|breast(1)|skin(1) 5 CTGGCTCTGGGGATAAGAAGG 0.408 NA 14 52 0.00316338 0.00338462 0.003163 1 0 NTRK2 4915 broad.mit.edu 37 9 87285692 87285692 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:87285692C>A uc004aoa.1 + 4 967 c.29C>A c.(28-30)CCC>CAC p.P10H NTRK2_uc004anv.1_Missense_Mutation_p.P10H|NTRK2_uc004any.1_Missense_Mutation_p.P10H|NTRK2_uc004anz.1_Missense_Mutation_p.P10H|NTRK2_uc011lsz.1_Missense_Mutation_p.P10H|NTRK2_uc011lta.1_Missense_Mutation_p.P10H|NTRK2_uc004aob.1_Missense_Mutation_p.P10H|NTRK2_uc011ltb.1_5'Flank NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 10 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TGGCATGGACCCGCCATGGCG 0.682 NA TSP Lung(25;0.17) 50 59 3.19069e-20 4.66043e-20 0.00361 1 0 CENPP 401541 broad.mit.edu 37 9 95142109 95142109 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:95142109G>C uc004arz.2 + 5 1072 c.532G>C c.(532-534)GAA>CAA p.E178Q CENPP_uc010mqx.2_Missense_Mutation_p.E66Q|CENPP_uc004ary.1_Missense_Mutation_p.E178Q NM_001012267 NP_001012267 Q6IPU0 CENPP_HUMAN centromere protein P 178 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase chromosome, centromeric region|cytosol|nucleoplasm ovary(2) 2 GGAGTGGTTTGAATATCGTAA 0.323 NA 23 34 0 0 0.002299 0 0 GRIN3A 116443 broad.mit.edu 37 9 104335671 104335671 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:104335671C>T uc004bbp.1 - 9 3734 c.3133G>A c.(3133-3135)GAC>AAC p.D1045N GRIN3A_uc004bbo.1_Missense_Mutation_p.D120N NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 1045 Cytoplasmic (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGGGGGATGTCCTGGTGGATC 0.512 NA 5 90 0 0 0.001168 0 0 GRIN3A 116443 broad.mit.edu 37 9 104499662 104499662 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:104499662G>T uc004bbp.1 - 1 1201 c.600C>A c.(598-600)CCC>CCA p.P200P GRIN3A_uc004bbq.1_Silent_p.P200P NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 200 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) CCTGGCTCTGGGGGAAGGCGA 0.597 NA 15 20 6.31663e-08 7.59738e-08 0.003163 1 0 SVEP1 79987 broad.mit.edu 37 9 113265405 113265405 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:113265405A>T uc010mtz.2 - 6 1733 c.1396T>A c.(1396-1398)TGT>AGT p.C466S SVEP1_uc010mua.1_Missense_Mutation_p.C466S|SVEP1_uc004beu.2_Missense_Mutation_p.C466S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 466 Sushi 2. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 CCTTCATCACAGGCAACCAAA 0.463 NA 43 60 0 0 0.00874 0 0 PAPPA 5069 broad.mit.edu 37 9 118950340 118950340 + Silent SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:118950340C>A uc004bjn.2 + 2 1704 c.1323C>A c.(1321-1323)CGC>CGA p.R441R PAPPA_uc011lxp.1_Silent_p.R234R|PAPPA_uc011lxq.1_Silent_p.R234R NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 441 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GGGATTGCCGCCACCTGCGCC 0.587 NA 12 16 2.27111e-07 2.68348e-07 0.001368 1 0 ASTN2 23245 broad.mit.edu 37 9 119858333 119858333 + Silent SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:119858333G>T uc004bjs.1 - 5 1367 c.1266C>A c.(1264-1266)CGC>CGA p.R422R ASTN2_uc004bjr.1_Silent_p.R422R|ASTN2_uc004bjt.1_Silent_p.R371R NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 422 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTTTGCTGCGGCGGCGACTGC 0.502 NA 20 34 6.33239e-15 8.66851e-15 0.010504 1 0 ASTN2 23245 broad.mit.edu 37 9 120053691 120053691 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:120053691G>T uc004bjs.1 - 2 645 c.544C>A c.(544-546)CAG>AAG p.Q182K ASTN2_uc004bjr.1_Missense_Mutation_p.Q182K|ASTN2_uc004bjt.1_Missense_Mutation_p.Q182K NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 182 Extracellular (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGGGCCAGCTGCCCGGAGCTG 0.602 NA 43 33 1.8453e-21 2.72729e-21 0.002522 1 0 TLR4 7099 broad.mit.edu 37 9 120475277 120475277 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:120475277G>C uc004bjz.2 + 3 1162 c.871G>C c.(871-873)GCA>CCA p.A291P TLR4_uc004bka.2_Missense_Mutation_p.A251P|TLR4_uc004bkb.2_Missense_Mutation_p.A91P NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 291 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|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 platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 ATTCCGATTAGCATACTTAGA 0.353 NA 39 60 0 0 0.00623 0 0 C9orf119 375757 broad.mit.edu 37 9 131038432 131038432 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:131038432G>T uc004bup.2 + 1 8 c.8G>T c.(7-9)CGG>CTG p.R3L GOLGA2_uc011maw.1_5'Flank|GOLGA2_uc010mxw.2_5'Flank|GOLGA2_uc004bul.1_5'Flank|C9orf119_uc010mxx.1_Missense_Mutation_p.R3L NM_001040011 NP_001035100 Q1ZZU3 SWI5_HUMAN hypothetical protein LOC375757 3 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 GCTATGCAGCGGCGTGGCCAG 0.637 NA 27 57 2.12542e-12 2.79964e-12 0.00632 1 0 C9orf98 158067 broad.mit.edu 37 9 135690074 135690074 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:135690074C>A uc004cbu.1 - 10 1486 c.930G>T c.(928-930)AGG>AGT p.R310S C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.R106S NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 310 Adenylate kinase. cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) CAAACGTGGTCCTATCTGCCA 0.498 NA 28 39 2.23313e-29 3.46492e-29 0.002445 1 0 C9orf98 158067 broad.mit.edu 37 9 135704074 135704075 + Missense_Mutation DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:135704074_135704075CC>AA uc004cbu.1 - 6 997_998 c.441_442GG>TT c.(439-444)CAGGCT>CATTCT p.147_148QA>HS C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_5'UTR NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 147_148 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) ATCCTCAGAGCCTGCTCACGCG 0.545 NA 6 8 0 0 0.004672 0 0 FAM166A 401565 broad.mit.edu 37 9 140139769 140139769 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:140139769C>T uc004cmi.1 - 3 567 c.512G>A c.(511-513)AGG>AAG p.R171K NM_001001710 NP_001001710 Q6J272 F166A_HUMAN hypothetical protein LOC401565 171 ovary(1) 1 CTGGTGCTGCCTGGGGGCCTC 0.667 NA 24 29 0 0 0.00278 0 0 CLCN4 1183 broad.mit.edu 37 X 10181855 10181855 + Missense_Mutation SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:10181855A>G uc004csy.3 + 11 2141 c.1711A>G c.(1711-1713)ATC>GTC p.I571V CLCN4_uc011mid.1_Missense_Mutation_p.I477V NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 571 Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GAAAGAAGGCATCTACGAGGC 0.567 Melanoma(74;1050 1296 1576 30544 38374) NA 34 22 0 0 0.002836 0 0 CNKSR2 22866 broad.mit.edu 37 X 21609267 21609267 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:21609267G>T uc004czx.1 + 15 1821 c.1785G>T c.(1783-1785)TGG>TGT p.W595C CNKSR2_uc004czw.2_Missense_Mutation_p.W595C|CNKSR2_uc011mjn.1_Missense_Mutation_p.W546C|CNKSR2_uc011mjo.1_Missense_Mutation_p.W565C|CNKSR2_uc004czy.2_Missense_Mutation_p.W187C NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 595 PH. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 AAAAATATTGGTTTGTCCTAA 0.363 NA 46 51 2.43468e-25 3.68584e-25 0.00361 1 0 DCAF8L1 139425 broad.mit.edu 37 X 27999166 27999166 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:27999166C>A uc004dbx.1 - 1 401 c.286G>T c.(286-288)GAG>TAG p.E96* NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 96 Glu-rich. ovary(3)|skin(1) 4 TCTGTCTCCTCTCCCACTAAC 0.373 NA 51 44 4.86159e-25 7.34716e-25 0.00361 1 0 DMD 1756 broad.mit.edu 37 X 32632526 32632526 + Missense_Mutation SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:32632526T>A uc004dda.1 - 12 1620 c.1376A>T c.(1375-1377)GAG>GTG p.E459V DMD_uc004dcz.2_Missense_Mutation_p.E336V|DMD_uc004dcy.1_Missense_Mutation_p.E455V|DMD_uc004ddb.1_Missense_Mutation_p.E451V|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E451V|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 459 Spectrin 2. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTCATTCAACTCTTTCAGTTT 0.363 NA 6 20 0 0 0.001168 0 0 LANCL3 347404 broad.mit.edu 37 X 37526534 37526535 + Splice_Site DNP GG GG TT TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:37526534_37526535GG>TT uc011mkd.1 + 4 1198 c.896_splice c.e4-1 p.G299_splice LANCL3_uc004ddp.1_Splice_Site_p.G299_splice NM_198511 NP_940913 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 catalytic activity 0 TGTTTTCACAGGAATTGCCTAT 0.386 NA 19 14 0 0 0.004672 0 0 ZNF630 57232 broad.mit.edu 37 X 47918444 47918444 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:47918444C>A uc004div.3 - 5 1639 c.1387G>T c.(1387-1389)GAC>TAC p.D463Y ZNF630_uc010nhz.1_Intron|ZNF630_uc004diw.2_Missense_Mutation_p.D339Y NM_001037735 NP_001032824 Q2M218 ZN630_HUMAN zinc finger protein 630 463 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|lung(1) 2 TTCCCACAGTCAGTACACACA 0.433 NA 16 16 3.52763e-06 4.06353e-06 0.00499 1 0 FTSJ1 24140 broad.mit.edu 37 X 48339578 48339578 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:48339578A>C uc004djo.1 + 6 724 c.401A>C c.(400-402)CAG>CCG p.Q134P FTSJ1_uc004djl.2_Missense_Mutation_p.Q134P|FTSJ1_uc004djm.2_Missense_Mutation_p.Q134P|FTSJ1_uc004djn.1_Missense_Mutation_p.Q134P|FTSJ1_uc004djp.1_Missense_Mutation_p.Q134P|FTSJ1_uc011mlw.1_Intron NM_012280 NP_036412 Q9UET6 RRMJ1_HUMAN FtsJ homolog 1 isoform a 134 RNA methylation|rRNA processing methyltransferase activity|nucleic acid binding 0 ATGCAGGCCCAGCTCCTCCTA 0.592 NA 15 14 0 0 0.004007 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873528 91873528 + Silent SNP A A G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:91873528A>G uc004efk.1 + 7 4478 c.3633A>G c.(3631-3633)CCA>CCG p.P1211P PCDH11X_uc004efl.1_Silent_p.P1201P|PCDH11X_uc004efo.1_Silent_p.P1174P|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Silent_p.P1203P|PCDH11X_uc004efn.1_Silent_p.P1193P NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1211 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 GCCACAGCCCACCACCGATAC 0.597 NSCLC(38;925 1092 2571 38200 45895) NA 10 60 0 0 0.008291 0 0 NAP1L3 4675 broad.mit.edu 37 X 92926929 92926929 + Missense_Mutation SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:92926929C>T uc004efq.2 - 1 1680 c.1375G>A c.(1375-1377)GAT>AAT p.D459N FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 459 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 AGGATAGCATCTTCTCGTGGT 0.393 NA 8 14 0 0 0.00308 0 0 DIAPH2 1730 broad.mit.edu 37 X 96200587 96200587 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:96200587G>C uc004efu.3 + 14 1902 c.1506G>C c.(1504-1506)AAG>AAC p.K502N DIAPH2_uc004eft.3_Missense_Mutation_p.K502N NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 502 Potential. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 AGTTTTCAAAGAAGGTAAGCT 0.303 NA 22 21 0 0 0.010504 0 0 NXF3 56000 broad.mit.edu 37 X 102334690 102334690 + Splice_Site SNP C C T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:102334690C>T uc004eju.2 - 13 1231 c.1160_splice c.e13+1 p.P387_splice NXF3_uc010noi.1_Splice_Site_p.P237_splice NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 GTGATACTCACGGGGCTGAGT 0.577 NA 23 35 0 0 0.003954 0 0 GLRA4 441509 broad.mit.edu 37 X 102962361 102962361 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:102962361G>T uc011mse.1 - 9 1586 c.1165C>A c.(1165-1167)CCA>ACA p.P389T NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN glycine receptor, alpha 4 precursor 389 Extracellular (Potential). cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity 0 CCTTCCATTGGACCTCCATCT 0.498 NA 9 31 0.000442599 0.000483037 0.006214 1 0 TEX13B 56156 broad.mit.edu 37 X 107225239 107225239 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:107225239G>A uc004enn.1 - 2 212 c.119C>T c.(118-120)TCC>TTC p.S40F NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 40 ovary(1) 1 CCAGGATAAGGATATATTCTC 0.597 NA 28 43 0 0 0.00632 0 0 COL4A6 1288 broad.mit.edu 37 X 107430488 107430488 + Missense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:107430488G>T uc004enw.3 - 23 1895 c.1792C>A c.(1792-1794)CCA>ACA p.P598T COL4A6_uc004env.3_Missense_Mutation_p.P597T|COL4A6_uc011msn.1_Missense_Mutation_p.P597T|COL4A6_uc010npk.2_Missense_Mutation_p.P597T NM_001847 NP_001838 Q14031 CO4A6_HUMAN type IV alpha 6 collagen isoform A precursor 598 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding ovary(6)|urinary_tract(1)|large_intestine(1) 8 TTTTCACCTGGGAAGCCCTGT 0.498 Melanoma(87;1895 1945 2589 7165) NA Alport_syndrome_with_Diffuse_Leiomyomatosis 38 37 2.52449e-32 3.94508e-32 0.006999 1 0 ZCCHC12 170261 broad.mit.edu 37 X 117959580 117959580 + Nonsense_Mutation SNP G G T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:117959580G>T uc004equ.2 + 4 846 c.373G>T c.(373-375)GAA>TAA p.E125* NM_173798 NP_776159 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding ovary(1) 1 tggggagtctgaaagcagtgt 0 NA 73 60 6.01781e-45 9.61085e-45 0.00361 1 0 NKRF 55922 broad.mit.edu 37 X 118723347 118723347 + Missense_Mutation SNP G G T rs144536074 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:118723347G>T uc004erq.2 - 2 2694 c.2041C>A c.(2041-2043)CAT>AAT p.H681N NKRF_uc004err.2_Missense_Mutation_p.H681N NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 681 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 AGCTCGTAATGGCCCACTTGG 0.403 NA 4 48 1.23904e-05 1.405e-05 0.000602 1 0 STAG2 10735 broad.mit.edu 37 X 123195708 123195708 + Missense_Mutation SNP G G A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:123195708G>A uc004etz.3 + 16 1961 c.1622G>A c.(1621-1623)AGA>AAA p.R541K STAG2_uc004eua.2_Missense_Mutation_p.R541K|STAG2_uc004eub.2_Missense_Mutation_p.R541K|STAG2_uc004euc.2_Missense_Mutation_p.R541K|STAG2_uc004eud.2_Missense_Mutation_p.R541K|STAG2_uc004eue.2_Missense_Mutation_p.R541K NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 541 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CCCGTGGGAAGAGGGACAGGA 0.363 NA 20 30 0 0 0.010504 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130219647 130219647 + Silent SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:130219647G>C uc004evz.2 + 8 1386 c.1041G>C c.(1039-1041)CTG>CTC p.L347L ARHGAP36_uc004ewa.2_Silent_p.L335L|ARHGAP36_uc004ewb.2_Silent_p.L316L|ARHGAP36_uc004ewc.2_Silent_p.L211L NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 347 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TGGAGCGTCTGCTGAAGGCCC 0.478 NA 85 77 0 0 0.00361 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290686 141290686 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:141290686C>A uc004fbu.1 - 3 1436 c.1088G>T c.(1087-1089)AGT>ATT p.S363I NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 363 cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGACATGACACTGAGGCTTTC 0.493 NA HNSCC(46;0.14) 31 47 1.17478e-05 1.33561e-05 0.003271 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904933 144904934 + Nonsense_Mutation DNP CC CC AA TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:144904933_144904934CC>AA uc004fcd.2 + 5 1980_1981 c.990_991CC>AA c.(988-993)TACCAG>TAAAAG p.330_331YQ>*K SLITRK2_uc010nsp.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc010nso.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mwq.1_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mwr.1_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mws.1_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc004fcg.2_Nonsense_Mutation_p.330_331YQ>*K|SLITRK2_uc011mwt.1_Nonsense_Mutation_p.330_331YQ>*K NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 330_331 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCATGGTGTACCAGACCAAGTC 0.53 NA 4 31 0 0 0.004672 0 0 AFF2 2334 broad.mit.edu 37 X 147919203 147919203 + Silent SNP T T A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:147919203T>A uc004fcp.2 + 5 1598 c.1119T>A c.(1117-1119)ACT>ACA p.T373T AFF2_uc004fco.2_Intron|AFF2_uc004fcq.2_Silent_p.T369T|AFF2_uc004fcr.2_Intron|AFF2_uc011mxb.1_Intron|AFF2_uc004fcs.2_Intron|AFF2_uc011mxc.1_Intron NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 373 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CTCCTCTCACTTCCATGCATA 0.403 NA 32 73 0 0 0.005524 0 0 CD99L2 83692 broad.mit.edu 37 X 149963906 149963906 + Missense_Mutation SNP G G C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:149963906G>C uc004fel.2 - 5 449 c.331C>G c.(331-333)CCA>GCA p.P111A CD99L2_uc004fek.2_RNA|CD99L2_uc004fem.2_Missense_Mutation_p.P62A|CD99L2_uc004fen.2_Intron|CD99L2_uc004feo.2_RNA|CD99L2_uc011myb.1_Intron NM_031462 NP_113650 Q8TCZ2 C99L2_HUMAN CD99 antigen-like 2 isoform E3'-E4'-E3-E4 111 Extracellular (Potential). cell adhesion cell junction|integral to membrane large_intestine(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTATTTGCTGGAGCTCTGGTG 0.512 NA 50 91 0 0 0.00361 0 0 GPR50 9248 broad.mit.edu 37 X 150345292 150345292 + Nonsense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:150345292C>A uc010ntg.1 + 1 234 c.99C>A c.(97-99)TGC>TGA p.C33* uc004fes.1_RNA|GPR50_uc011myc.1_Nonsense_Mutation_p.C33* NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 33 Helical; Name=1; (Potential). cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TTATGTTCTGCGCGATGGTTA 0.527 NA 41 90 1.07121e-22 1.5913e-22 0.006999 1 0 GPR50 9248 broad.mit.edu 37 X 150349269 150349269 + Missense_Mutation SNP A A T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:150349269A>T uc010ntg.1 + 2 1349 c.1214A>T c.(1213-1215)AAG>ATG p.K405M uc004fes.1_5'Flank NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 405 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) ACCCACCACAAGTCTGTCTTT 0.602 NA 66 119 0 0 0.00361 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900674 151900674 + Missense_Mutation SNP A A C TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:151900674A>C uc010ntp.2 - 3 481 c.127T>G c.(127-129)TCT>GCT p.S43A MAGEA12_uc004fgb.2_Intron|MAGEA12_uc004fgc.2_Missense_Mutation_p.S43A|CSAG1_uc004fge.2_5'Flank|CSAG1_uc004fgf.2_5'Flank|CSAG1_uc004fgd.2_5'Flank NM_005367 NP_005358 P43365 MAGAC_HUMAN melanoma antigen family A, 12 43 Poly-Ser. skin(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) ACTAGAGTAGAGGAGGAGGAG 0.637 NA 14 70 0 0 0.003163 0 0 AVPR2 554 broad.mit.edu 37 X 153171805 153171805 + Missense_Mutation SNP T T G TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:153171805T>G uc004fjh.3 + 2 916 c.845T>G c.(844-846)CTG>CGG p.L282R AVPR2_uc004fjg.3_Missense_Mutation_p.L71R|AVPR2_uc004fji.2_Missense_Mutation_p.L282R NM_000054 NP_000045 P30518 V2R_HUMAN arginine vasopressin receptor 2 isoform 1 282 Helical; Name=6; (Potential). L -> P (in XNDI). activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane vasopressin receptor activity breast(1) 1 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) GTCTATGTGCTGTGCTGGGCA 0.662 NA 29 46 0 0 0.008361 0 0 DOCK7 85440 broad.mit.edu 37 1 63128718 63128719 + Frame_Shift_Ins INS - - A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:63128718_63128719insA uc001daq.2 - 2 155_156 c.121_122insT c.(121-123)GGCfs p.G41fs DOCK7_uc001dap.2_Frame_Shift_Ins_p.G41fs|DOCK7_uc009wah.1_Frame_Shift_Ins_p.G41fs NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 41 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GGATATATTGCCAACAATATTA 0.391 NA 26 159 --- --- --- --- NA NA NA NA NA GOLPH3L 55204 broad.mit.edu 37 1 150636173 150636173 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr1:150636173delC uc001evj.2 - 3 467 c.250delG c.(250-252)GCCfs p.A84fs GOLPH3L_uc010pci.1_Intron NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Golgi phosphoprotein 3-like 84 Golgi cisterna membrane ovary(1) 1 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) CCCCGCATGGCCAGCTCTATC 0.498 NA 75 58 --- --- --- --- NA NA NA NA NA OR4C6 219432 broad.mit.edu 37 11 55433228 55433228 + Frame_Shift_Del DEL T T - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:55433228delT uc001nht.3 + 3 851 c.586delT c.(586-588)TTAfs p.L196fs OR4C6_uc010rik.1_Frame_Shift_Del_p.L196fs NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 196 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 CCTGGGCCTCTTAGTTACCCT 0.443 NA 34 104 --- --- --- --- NA NA NA NA NA OR8D2 283160 broad.mit.edu 37 11 124189574 124189574 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr11:124189574delC uc010sah.1 - 1 520 c.520delG c.(520-522)GTCfs p.V174fs NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 174 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) TAATGACTGACCGTATGAGAC 0.438 NA 21 86 --- --- --- --- NA NA NA NA NA RB1 5925 broad.mit.edu 37 13 48934152 48934152 + Splice_Site DEL G G - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr13:48934152delG uc001vcb.2 + 7 774 c.608_splice c.e7-1 p.G203_splice RB1_uc010acs.1_Splice_Site|RB1_uc010act.1_5'Flank NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(3) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TTTTTTTTCAGGGGAAGTATT 0.318 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 23 25 --- --- --- --- NA NA NA NA NA PRDM7 11105 broad.mit.edu 37 16 90127890 90127890 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr16:90127890delC uc010cje.2 - 8 940 c.920delG c.(919-921)GGAfs p.G307fs PRDM7_uc002fqo.2_Frame_Shift_Del_p.G101fs|PRDM7_uc010cjf.2_Frame_Shift_Del_p.G190fs|PRDM7_uc010cjg.1_Frame_Shift_Del_p.G101fs|PRDM7_uc010cjh.1_RNA NM_001098173 NP_001091643 Q9NQW5 PRDM7_HUMAN PR domain containing 7 isoform 1 307 SET. chromosome|nucleus nucleic acid binding ovary(1) 1 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) TTTATCTTTTCCATCCACATA 0.408 NA 54 125 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579471 7579471 + Frame_Shift_Del DEL G G - rs56275308 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:7579471delG uc002gim.2 - 4 410 c.216delC c.(214-216)CCCfs p.P72fs TP53_uc002gig.1_Frame_Shift_Del_p.P72fs|TP53_uc002gih.2_Frame_Shift_Del_p.P72fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.P72fs|TP53_uc010cni.1_Frame_Shift_Del_p.P72fs|TP53_uc002gij.2_Frame_Shift_Del_p.P72fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.P33fs|TP53_uc010cnk.1_Frame_Shift_Del_p.P87fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 72 Interaction with WWOX.|Interaction with HRMT1L2. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.V73fs*76(2)|p.R72H(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.V73fs*50(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGGGGCCACGGGGGGAGCAG 0.602 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 82 112 --- --- --- --- NA NA NA NA NA GGNBP2 79893 broad.mit.edu 37 17 34901617 34901618 + Frame_Shift_Ins INS - - C rs140693226 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr17:34901617_34901618insC uc002hnb.2 + 2 293_294 c.44_45insC c.(43-45)TTCfs p.F15fs GGNBP2_uc002hna.2_Frame_Shift_Ins_p.F15fs NM_024835 NP_079111 Q9H3C7 GGNB2_HUMAN zinc finger protein 403 15 cell differentiation|multicellular organismal development|spermatogenesis cytoplasmic membrane-bounded vesicle ovary(2) 2 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) GAGGAGGAGTTCCCCTTCGAGA 0.342 NA 3 3 --- --- --- --- NA NA NA NA NA BIRC6 57448 broad.mit.edu 37 2 32640490 32640490 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:32640490delC uc010ezu.2 + 10 2265 c.2131delC c.(2131-2133)CCCfs p.P711fs NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 711 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTCTGTGTTTCCCAAGCCTGG 0.468 Pancreas(94;175 1509 16028 18060 45422) NA 21 67 --- --- --- --- NA NA NA NA NA DFNB59 494513 broad.mit.edu 37 2 179318348 179318349 + Splice_Site INS - - T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr2:179318348_179318349insT uc002umi.3 + 2 567 c.211_splice c.e2+1 p.G71_splice PRKRA_uc002umd.2_5'Flank|PRKRA_uc002ume.2_5'Flank|PRKRA_uc002umf.2_5'Flank|PRKRA_uc002umg.2_5'Flank|DFNB59_uc002umj.3_Splice_Site_p.G71_splice NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) ATTTCAGCTGGTAAGTTTAAAT 0.327 NA 8 17 --- --- --- --- NA NA NA NA NA PLCB4 5332 broad.mit.edu 37 20 9368137 9368137 + Frame_Shift_Del DEL A A - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:9368137delA uc002wnf.2 + 14 1228 c.1092delA c.(1090-1092)GGAfs p.G364fs PLCB4_uc010gbw.1_Frame_Shift_Del_p.G364fs|PLCB4_uc010gbx.2_Frame_Shift_Del_p.G364fs|PLCB4_uc002wne.2_Frame_Shift_Del_p.G364fs|PLCB4_uc002wnh.2_Frame_Shift_Del_p.G211fs NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 364 PI-PLC X-box. 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 GCTGGGATGGAAAAGGTGAAG 0.308 NA 14 139 --- --- --- --- NA NA NA NA NA CASS4 57091 broad.mit.edu 37 20 55033542 55033542 + Frame_Shift_Del DEL G G - rs143052505 TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr20:55033542delG uc002xxp.2 + 7 2325 c.2100delG c.(2098-2100)GCGfs p.A700fs CASS4_uc002xxr.2_Frame_Shift_Del_p.A700fs|CASS4_uc010zze.1_Frame_Shift_Del_p.A646fs|CASS4_uc010gio.2_Frame_Shift_Del_p.A263fs NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 700 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GCCAGCCCGCGGAGATCATCA 0.592 NA 15 119 --- --- --- --- NA NA NA NA NA GBA3 57733 broad.mit.edu 37 4 22749403 22749404 + Frame_Shift_Ins INS - - T TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:22749403_22749404insT uc003gqp.3 + 3 862_863 c.771_772insT c.(769-774)CCCATAfs p.P257fs GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Frame_Shift_Ins_p.P258fs NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 257_258 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TTGCTAAACCCATATTCATCGA 0.446 NA 20 96 --- --- --- --- NA NA NA NA NA LPHN3 23284 broad.mit.edu 37 4 62903472 62903472 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:62903472delC uc010ihh.2 + 21 3584 c.3411delC c.(3409-3411)TGCfs p.C1137fs LPHN3_uc003hcq.3_Frame_Shift_Del_p.C1137fs|LPHN3_uc003hct.2_Frame_Shift_Del_p.C521fs NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 1115 Cytoplasmic (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 ATGGGAAATGCCTGCGAACAC 0.423 NA 28 67 --- --- --- --- NA NA NA NA NA GK3P 2713 broad.mit.edu 37 4 166199558 166199558 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr4:166199558delC uc003ird.3 - 1 1618 c.1240delG c.(1240-1242)GACfs p.D414fs KLHL2_uc003irb.2_Intron|KLHL2_uc011cjm.1_Intron|KLHL2_uc003irc.2_Intron|KLHL2_uc010ira.2_Intron NM_000167 NP_000158 glycerol kinase isoform b 0 ATTCCACAGTCTCGATTCATG 0.408 NA 52 43 --- --- --- --- NA NA NA NA NA TECPR1 25851 broad.mit.edu 37 7 97854161 97854161 + Frame_Shift_Del DEL G G - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:97854161delG uc003upg.2 - 19 2847 c.2642delC c.(2641-2643)CCGfs p.P881fs NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 881 integral to membrane protein binding pancreas(1) 1 CGTGCCCCCCGGAACGCTGAA 0.637 NA 3 4 --- --- --- --- NA NA NA NA NA PUS7 54517 broad.mit.edu 37 7 105111238 105111239 + Frame_Shift_Ins INS - - A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:105111238_105111239insA uc003vcx.2 - 11 1513_1514 c.1294_1295insT c.(1294-1296)ACTfs p.T432fs PUS7_uc010lji.2_Frame_Shift_Ins_p.T438fs|PUS7_uc003vcy.2_Frame_Shift_Ins_p.T432fs|PUS7_uc003vcz.1_Frame_Shift_Ins_p.T432fs NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN pseudouridylate synthase 7 homolog 432 TRUD. pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding breast(1) 1 GAGGGCAGCAGTTGGGTCTTTG 0.455 Colon(138;2387 3051 17860) NA 39 147 --- --- --- --- NA NA NA NA NA SLC26A4 5172 broad.mit.edu 37 7 107335136 107335137 + Frame_Shift_Del DEL TG TG - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr7:107335136_107335137delTG uc003vep.2 + 12 1636_1637 c.1412_1413delTG c.(1411-1413)CTGfs p.L471fs SLC26A4_uc011kmb.1_Frame_Shift_Del_p.L58fs|SLC26A4_uc011kmc.1_Frame_Shift_Del_p.L32fs|SLC26A4_uc011kmd.1_Frame_Shift_Del_p.L40fs NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 471 Extracellular (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 ATTCCTCGTCTGTGGAGACAGA 0.421 NA Pendred_syndrome 36 60 --- --- --- --- NA NA NA NA NA ADAMTSL1 92949 broad.mit.edu 37 9 18906824 18906824 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:18906824delC uc003zne.3 + 28 5223 c.5096delC c.(5095-5097)ACCfs p.T1699fs ADAMTSL1_uc003znf.3_Frame_Shift_Del_p.T400fs|ADAMTSL1_uc003zng.1_Frame_Shift_Del_p.T90fs NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 1699 TSP type-1 9. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CATGCCCGCACCAACAAGGCA 0.612 NA 26 46 --- --- --- --- NA NA NA NA NA OR1L1 26737 broad.mit.edu 37 9 125424827 125424827 + Frame_Shift_Del DEL C C - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chr9:125424827delC uc011lza.1 + 1 983 c.983delC c.(982-984)ACCfs p.T328fs NM_001005236 NP_001005236 Q8NH94 OR1L1_HUMAN olfactory receptor, family 1, subfamily L, 328 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 ATTATCTACACCGTACTGACT 0.403 NA 36 57 --- --- --- --- NA NA NA NA NA GPR174 84636 broad.mit.edu 37 X 78426763 78426763 + Frame_Shift_Del DEL G G - TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 443f5b2d-832e-45cf-bca5-3f064ea3bc50 8dfe00f3-1e3c-4752-b2fe-79e7dc150306 g.chrX:78426763delG uc004edg.1 + 1 295 c.259delG c.(259-261)GGGfs p.G87fs NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 87 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 CTGGCCATTTGGGCCTGGTCT 0.418 NA HNSCC(63;0.18) 19 10 --- --- --- --- NA NA NA NA NA