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 CTRC 11330 broad.mit.edu 37 1 15772225 15772225 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:15772225A>G uc001awi.1 + 7 796 c.773A>G c.(772-774)TAC>TGC p.Y258C CTRC_uc001awj.1_Silent_p.L209L NM_007272 NP_009203 Q99895 CTRC_HUMAN chymotrypsin C preproprotein 258 Peptidase S1. proteolysis serine-type endopeptidase activity 0 Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTGTCCGCCTACATCGACTGG 0.537 NA 18 49 0 0 0.012319 0 0 PLA2G2F 64600 broad.mit.edu 37 1 20474875 20474875 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:20474875C>A uc009vpp.1 + 5 715 c.617C>A c.(616-618)GCG>GAG p.A206E NM_022819 NP_073730 Q9BZM2 PA2GF_HUMAN phospholipase A2, group IIF 163 lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity ovary(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) CAATCCCCAGCGCCCCCCGCC 0.647 NA 14 19 7.93312e-07 9.33987e-07 0.00245 1 0 LDLRAD2 401944 broad.mit.edu 37 1 22141121 22141121 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:22141121C>G uc001bfg.1 + 2 503 c.316C>G c.(316-318)CCG>GCG p.P106A NM_001013693 NP_001013715 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain 106 Extracellular (Potential). integral to membrane receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) CCCGGCCGACCCGTGCGCCCC 0.622 NA 6 10 0 0 0.001168 0 0 C1orf94 84970 broad.mit.edu 37 1 34666517 34666517 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:34666517A>T uc001bxs.3 + 3 983 c.584A>T c.(583-585)AAA>ATA p.K195I C1orf94_uc001bxt.2_Missense_Mutation_p.K385I NM_032884 NP_116273 Q6P1W5 CA094_HUMAN hypothetical protein LOC84970 isoform b 195 protein binding 0 Myeloproliferative disorder(586;0.0393) CCGCCCAAGAAACCTACATGT 0.582 NA 8 26 0 0 0.004482 0 0 ZMYM4 9202 broad.mit.edu 37 1 35863113 35863113 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:35863113G>T uc001byt.2 + 20 3246 c.3166G>T c.(3166-3168)GAA>TAA p.E1056* ZMYM4_uc009vuu.2_Nonsense_Mutation_p.E1024*|ZMYM4_uc001byu.2_Nonsense_Mutation_p.E732*|ZMYM4_uc009vuv.2_Nonsense_Mutation_p.E795* NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 1056 multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AATGATTGCAGAAGATGAAGA 0.363 NA 15 15 1.05317e-09 1.33292e-09 0.00245 1 0 PLK3 1263 broad.mit.edu 37 1 45268721 45268721 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:45268721A>T uc001cmn.2 + 7 944 c.844A>T c.(844-846)AGC>TGC p.S282C PLK3_uc001cmo.2_RNA NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 282 Protein kinase. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) GCTGCCTGCCAGCCTCTCACT 0.622 NA 16 90 0 0 0.004007 0 0 NRD1 4898 broad.mit.edu 37 1 52303236 52303236 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:52303236C>A uc001ctc.3 - 3 1009 c.687G>T c.(685-687)AAG>AAT p.K229N NRD1_uc009vzb.2_Intron|NRD1_uc001ctd.3_Intron|NRD1_uc001cte.2_Missense_Mutation_p.K97N|NRD1_uc001ctf.2_Intron|NRD1_uc010ong.1_Intron|NRD1_uc009vzc.1_Intron|MIR761_hsa-mir-761|MI0003941_5'Flank|NRD1_uc001ctg.1_RNA NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 AATAAGTTGACTTAAACCACA 0.373 NA 29 78 3.73148e-12 5.22923e-12 0.007291 1 0 NEGR1 257194 broad.mit.edu 37 1 72076749 72076749 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:72076749C>A uc001dfw.2 - 5 848 c.748G>T c.(748-750)GTG>TTG p.V250L NEGR1_uc001dfv.2_Missense_Mutation_p.V122L|NEGR1_uc010oqs.1_Missense_Mutation_p.V206L NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 250 Ig-like C2-type 3. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) GGAGGCGGCACACCTGCACCT 0.458 NA 14 69 1.49906e-05 1.69114e-05 0.00245 1 0 FPGT 8790 broad.mit.edu 37 1 74670891 74670891 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:74670891G>T uc001dgb.1 + 4 1197 c.1160G>T c.(1159-1161)AGT>ATT p.S387I TNNI3K_uc001dgc.1_Intron|TNNI3K_uc001dgd.2_Intron|TNNI3K_uc001dge.1_Intron|FPGT_uc010oqt.1_Splice_Site_p.C12_splice|FPGT_uc010oqu.1_Intron|FPGT_uc010oqv.1_Intron NM_003838 NP_003829 O14772 FPGT_HUMAN fucose-1-phosphate guanyltransferase 387 fucose metabolic process cytoplasm fucose-1-phosphate guanylyltransferase activity|GTP binding skin(1) 1 ATAACTTTTAGTATCTTTCCA 0.383 NA 10 28 3.86212e-05 4.26201e-05 0.008291 1 0 ASB17 127247 broad.mit.edu 37 1 76397599 76397599 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:76397599A>T uc001dhe.1 - 1 518 c.378T>A c.(376-378)AGT>AGA p.S126R ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 126 intracellular signal transduction ovary(1) 1 CCAGGTTACAACTTCTGTCTT 0.338 NA 14 23 0 0 0.00245 0 0 PRKACB 5567 broad.mit.edu 37 1 84700881 84700881 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:84700881C>A uc001djj.2 + 10 1213 c.949C>A c.(949-951)CCA>ACA p.P317T PRKACB_uc001djl.2_Missense_Mutation_p.P364T|PRKACB_uc010ort.1_Missense_Mutation_p.P324T|PRKACB_uc001djn.2_Missense_Mutation_p.P321T|PRKACB_uc010oru.1_Missense_Mutation_p.P305T|PRKACB_uc001djp.2_Missense_Mutation_p.P323T|PRKACB_uc001djq.2_Missense_Mutation_p.P287T|PRKACB_uc010orv.1_Missense_Mutation_p.P304T NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 317 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TCCATTCATACCAAAGTTTAG 0.343 NA 31 56 2.1956e-27 3.93459e-27 0.004289 1 0 NTNG1 22854 broad.mit.edu 37 1 107867366 107867366 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:107867366C>A uc001dvh.3 + 3 1427 c.709C>A c.(709-711)CTA>ATA p.L237I NTNG1_uc001dvf.3_Missense_Mutation_p.L237I|NTNG1_uc010out.1_Missense_Mutation_p.L237I|NTNG1_uc001dvc.3_Missense_Mutation_p.L237I|NTNG1_uc001dvd.1_Missense_Mutation_p.L237I NM_001113226 NP_001106697 Q9Y2I2 NTNG1_HUMAN netrin G1 isoform 1 237 Laminin N-terminal. axonogenesis anchored to plasma membrane protein binding large_intestine(2)|ovary(2)|skin(2) 6 all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243) Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245) TGGACCTCGCCTACGCAATAT 0.428 NA 15 32 0.000219431 0.000235729 0.00245 1 0 TBX15 6913 broad.mit.edu 37 1 119427378 119427378 + Nonsense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:119427378G>A uc001ehl.1 - 8 1783 c.1468C>T c.(1468-1470)CAG>TAG p.Q490* TBX15_uc009whj.1_Nonsense_Mutation_p.Q314* NM_152380 NP_689593 Q96SF7 TBX15_HUMAN T-box 15 596 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) ACGGACATCTGGGAGGAGGAG 0.552 NA 22 63 0 0 0.012319 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108068 151108068 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:151108068G>A uc001ewu.2 - 14 1732 c.1432C>T c.(1432-1434)CGG>TGG p.R478W SEMA6C_uc001ewv.2_Missense_Mutation_p.R478W|SEMA6C_uc001eww.2_Missense_Mutation_p.R438W|SEMA6C_uc010pcq.1_Missense_Mutation_p.R478W NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 478 Extracellular (Potential).|Sema. 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) AGGCCTCACCGGGCAGGGCTG 0.597 NA 16 206 0 0 0.00499 0 0 TCHHL1 126637 broad.mit.edu 37 1 152058462 152058462 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:152058462C>A uc001ezo.1 - 3 1761 c.1696G>T c.(1696-1698)GAA>TAA p.E566* NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 566 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) ACAGGCAGTTCACCTGTCTCT 0.542 NA 54 182 4.6707e-30 8.55943e-30 0.01441 1 0 CD5L 922 broad.mit.edu 37 1 157805682 157805682 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:157805682C>A uc001frk.3 - 3 462 c.319G>T c.(319-321)GAG>TAG p.E107* NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 107 SRCR 1. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TCTTCTTGCTCACACTGAGCC 0.483 NA 61 368 1.19403e-26 2.12098e-26 0.01441 1 0 SPTA1 6708 broad.mit.edu 37 1 158612763 158612763 + Nonsense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:158612763C>T uc001fst.1 - 32 4645 c.4446G>A c.(4444-4446)TGG>TGA p.W1482* NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1482 Spectrin 14. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TGAGAGCCTTCCACCTAGAGG 0.483 NA 31 38 0 0 0.010818 0 0 SPTA1 6708 broad.mit.edu 37 1 158648304 158648304 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:158648304G>T uc001fst.1 - 6 898 c.699C>A c.(697-699)CCC>CCA p.P233P NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 233 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) ACTGAATTAAGGGTAGGTCAG 0.398 NA 17 62 3.41278e-10 4.4159e-10 0.00499 1 0 ATP1A4 480 broad.mit.edu 37 1 160144384 160144384 + Missense_Mutation SNP G G T rs150078418 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:160144384G>T uc001fve.3 + 15 2637 c.2158G>T c.(2158-2160)GTG>TTG p.V720L ATP1A4_uc001fvf.3_RNA|ATP1A4_uc001fvg.2_Missense_Mutation_p.V223L|ATP1A4_uc001fvh.2_5'Flank NM_144699 NP_653300 Q13733 AT1A4_HUMAN Na+/K+ -ATPase alpha 4 subunit isoform 1 720 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 p.V720M(1) ovary(2)|skin(2) 4 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGTTGTGGCCGTGACAGGTGA 0.542 NA 29 35 8.16721e-17 1.2435e-16 0.010818 1 0 FCGR3B 2215 broad.mit.edu 37 1 161594354 161594354 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:161594354A>G uc009wul.2 - 5 927 c.653T>C c.(652-654)CTT>CCT p.L218P NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 218 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CACTGCAAAAAGGAGTACCAT 0.433 NA 31 133 0 0 0.010818 0 0 FASLG 356 broad.mit.edu 37 1 172635120 172635120 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:172635120G>A uc001gis.2 + 4 967 c.810G>A c.(808-810)GAG>GAA p.E270E FASLG_uc001git.2_3'UTR NM_000639 NP_000630 P48023 TNFL6_HUMAN fas ligand 270 Extracellular (Potential). activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction extracellular space|integral to plasma membrane cytokine activity lung(2)|breast(1) 3 TCAATTTTGAGGAATCTCAGA 0.433 Ovarian(28;486 876 30334 44033) NA 41 45 0 0 0.009718 0 0 SLC9A11 284525 broad.mit.edu 37 1 173505044 173505044 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:173505044C>T uc001giz.2 - 15 2123 c.1700G>A c.(1699-1701)AGT>AAT p.S567N SLC9A11_uc009wwe.2_Missense_Mutation_p.S125N|SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 567 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 TATAAGCCAACTTCTAGTTCT 0.264 NA 4 36 0 0 0.009096 0 0 TNN 63923 broad.mit.edu 37 1 175086339 175086339 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:175086339C>A uc001gkl.1 + 10 2497 c.2384C>A c.(2383-2385)ACA>AAA p.T795K NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 795 Fibronectin type-III 6. 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) AAGGCCCAGACAGGTAAGGAG 0.527 NA 25 74 4.7796e-09 5.93785e-09 0.004656 1 0 FAM129A 116496 broad.mit.edu 37 1 184764303 184764303 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:184764303C>A uc001gra.2 - 14 2789 c.2595G>T c.(2593-2595)ATG>ATT p.M865I FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 865 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 TTTGCCCTCCCATCTCTTCTT 0.582 NA 59 67 4.45325e-31 8.23547e-31 0.01441 1 0 FAM5C 339479 broad.mit.edu 37 1 190203595 190203595 + Silent SNP G G T rs145486539 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:190203595G>T uc001gse.1 - 5 863 c.631C>A c.(631-633)CGG>AGG p.R211R FAM5C_uc010pot.1_Silent_p.R109R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 211 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GGACCAGTCCGTGTTTCTGTT 0.378 NA 24 38 4.72057e-08 5.74124e-08 0.003954 1 0 MYOG 4656 broad.mit.edu 37 1 203054889 203054889 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:203054889C>T uc001gzd.2 - 1 489 c.201G>A c.(199-201)CCG>CCA p.P67P NM_002479 NP_002470 P15173 MYOG_HUMAN myogenin 67 muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter transcription factor complex E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity skin(2) 2 TACACGCCCACGGCAGGCACT 0.682 NA 9 112 0 0 0.008291 0 0 BTG2 7832 broad.mit.edu 37 1 203276294 203276294 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:203276294C>G uc001gzq.2 + 2 276 c.205C>G c.(205-207)CGC>GGC p.R69G FMOD_uc010pqi.1_Intron|uc009xao.1_5'Flank|uc001gzp.1_5'Flank|BTG2_uc009xap.1_RNA NM_006763 NP_006754 P78543 BTG2_HUMAN B-cell translocation gene 2 69 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding ovary(1)|kidney(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.203) CCGCTGCATTCGCATCAACCA 0.612 NA 13 35 0 0 0.013537 0 0 USH2A 7399 broad.mit.edu 37 1 215844561 215844561 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:215844561T>G uc001hku.1 - 64 14273 c.13886A>C c.(13885-13887)GAG>GCG p.E4629A NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4629 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGGTGCAATCTCAGGGGTCTG 0.493 NA HNSCC(13;0.011) 15 112 0 0 0.003163 0 0 USH2A 7399 broad.mit.edu 37 1 216373371 216373371 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:216373371C>A uc001hku.1 - 17 3796 c.3409G>T c.(3409-3411)GTA>TTA p.V1137L USH2A_uc001hkv.2_Missense_Mutation_p.V1137L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1137 Extracellular (Potential).|Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGACAGCTACACTCCTTGTT 0.408 NA HNSCC(13;0.011) 26 100 1.42536e-11 1.95684e-11 0.004656 1 0 HHIPL2 79802 broad.mit.edu 37 1 222696185 222696185 + Nonsense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:222696185T>A uc001hnh.1 - 9 1991 c.1933A>T c.(1933-1935)AGA>TGA p.R645* NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 645 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) GAAGATTTTCTAGCAGCTTTC 0.428 NA 40 183 0 0 0.00623 0 0 HHIPL2 79802 broad.mit.edu 37 1 222712016 222712016 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:222712016C>A uc001hnh.1 - 5 1609 c.1551G>T c.(1549-1551)CTG>CTT p.L517L NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 517 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) CAAAGATATACAGGCCATTGA 0.368 NA 8 58 2.17888e-05 2.44445e-05 0.006214 1 0 ABCB10 23456 broad.mit.edu 37 1 229675222 229675222 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:229675222C>A uc001htp.3 - 6 1363 c.1320G>T c.(1318-1320)TGG>TGT p.W440C NM_012089 NP_036221 Q9NRK6 ABCBA_HUMAN ATP-binding cassette, sub-family B, member 10 440 Mitochondrial intermembrane (Potential).|ABC transmembrane type-1.|Helical; (Potential). 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) TTATTCCAACCCAGAAAGCAT 0.423 NA 55 71 4.17463e-26 7.35098e-26 0.01441 1 0 GNPAT 8443 broad.mit.edu 37 1 231410987 231410987 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:231410987G>C uc001hup.3 + 13 1970 c.1764G>C c.(1762-1764)TTG>TTC p.L588F GNPAT_uc009xfp.2_Missense_Mutation_p.L527F NM_014236 NP_055051 O15228 GNPAT_HUMAN glyceronephosphate O-acyltransferase 588 ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis peroxisomal matrix|peroxisomal membrane glycerone-phosphate O-acyltransferase activity ovary(3)|breast(1) 4 Breast(184;0.0871) all_cancers(173;0.2)|Prostate(94;0.183) AGTACCTTTTGAGTGAAGAAG 0.408 NA 5 54 0 0 0.000602 0 0 PCNXL2 80003 broad.mit.edu 37 1 233122108 233122108 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:233122108C>T uc001hvl.2 - 33 6205 c.5970G>A c.(5968-5970)TCG>TCA p.S1990S PCNXL2_uc001hvk.1_Silent_p.S642S|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 1990 Ser-rich. integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) GGGACGTGGCCGAGGCGTGCA 0.687 NA 13 9 0 0 0.001855 0 0 RYR2 6262 broad.mit.edu 37 1 237865347 237865347 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:237865347T>A uc001hyl.1 + 66 9557 c.9437T>A c.(9436-9438)ATT>AAT p.I3146N RYR2_uc010pxz.1_Missense_Mutation_p.I101N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3146 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCAAGAGTATTTACGTGGAG 0.323 NA 10 19 0 0 0.006214 0 0 FMN2 56776 broad.mit.edu 37 1 240371044 240371044 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:240371044C>A uc010pyd.1 + 5 3157 c.2932C>A c.(2932-2934)CCA>ACA p.P978T FMN2_uc010pye.1_Missense_Mutation_p.P982T NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 978 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AATACCTCCTCCACCCCCTCT 0.716 NA 5 21 3.86212e-05 4.26201e-05 0.008291 1 0 RGS7 6000 broad.mit.edu 37 1 241094038 241094038 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:241094038C>A uc001hyv.2 - 6 694 c.364G>T c.(364-366)GAG>TAG p.E122* RGS7_uc010pyh.1_Nonsense_Mutation_p.E96*|RGS7_uc010pyj.1_Nonsense_Mutation_p.E38*|RGS7_uc001hyu.2_Nonsense_Mutation_p.E122*|RGS7_uc009xgn.1_Intron|RGS7_uc001hyw.2_Nonsense_Mutation_p.E122* NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 122 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TTTTCCGGCTCCCAACAATTT 0.388 NA 39 193 6.68952e-21 1.11035e-20 0.013114 1 0 AHCTF1 25909 broad.mit.edu 37 1 247025359 247025359 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:247025359C>G uc001ibu.1 - 27 3644 c.3637G>C c.(3637-3639)GCA>CCA p.A1213P AHCTF1_uc001ibv.1_Missense_Mutation_p.A1222P|AHCTF1_uc009xgs.1_Missense_Mutation_p.A74P|AHCTF1_uc001ibw.1_RNA NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 1213 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GAGGGAGATGCTAAAGGTGTT 0.433 Colon(145;197 1800 4745 15099 26333) NA 44 58 0 0 0.00874 0 0 VN1R5 317705 broad.mit.edu 37 1 247420349 247420349 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:247420349C>A uc010pyu.1 + 2 976 c.976C>A c.(976-978)CAA>AAA p.Q326K NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 326 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) TGCTGATAACCAAATATTCAA 0.239 GBM(98;63 1399 4825 21305 33017) NA 23 98 2.89027e-11 3.90186e-11 0.014323 1 0 OR2G3 81469 broad.mit.edu 37 1 247769612 247769612 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:247769612C>A uc010pyz.1 + 1 725 c.725C>A c.(724-726)TCC>TAC p.S242Y NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 242 Helical; Name=6; (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) AGCACCTGCTCCTCCCACCTT 0.483 NA 15 47 1.52009e-12 2.13763e-12 0.003163 1 0 OR1C1 26188 broad.mit.edu 37 1 247921471 247921471 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:247921471G>T uc010pza.1 - 1 238 c.238C>A c.(238-240)CAA>AAA p.Q80K NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACTACCATTTGGGGGACTGTA 0.463 NA 12 43 9.31168e-06 1.06532e-05 0.001855 1 0 TRIM58 25893 broad.mit.edu 37 1 248039358 248039358 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:248039358C>T uc001ido.2 + 6 1076 c.1028C>T c.(1027-1029)TCA>TTA p.S343L OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 343 B30.2/SPRY. intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) AGCTTCTCATCAGGGAGGCAT 0.562 NA 8 80 0 0 0.00308 0 0 OR2T8 343172 broad.mit.edu 37 1 248084593 248084593 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:248084593C>A uc010pzc.1 + 1 274 c.274C>A c.(274-276)CGC>AGC p.R92S NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GGCCATCTCCCGCGCTGGCTG 0.582 NA 16 17 5.60225e-13 7.96109e-13 0.009535 1 0 OR2L8 391190 broad.mit.edu 37 1 248112520 248112520 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:248112520C>T uc001idt.1 + 1 361 c.361C>T c.(361-363)CGT>TGT p.R121C OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GGCCTATGATCGTTACATTGC 0.443 NA 33 322 0 0 0.010818 0 0 OR2L8 391190 broad.mit.edu 37 1 248112648 248112648 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:248112648C>T uc001idt.1 + 1 489 c.489C>T c.(487-489)CTC>CTT p.L163L OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TATATGTACTCCATATTCCTT 0.478 NA 19 154 0 0 0.008871 0 0 OR2AK2 391191 broad.mit.edu 37 1 248129213 248129213 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:248129213T>A uc010pzd.1 + 1 580 c.580T>A c.(580-582)TGT>AGT p.C194S OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 194 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CCACTTTTTCTGTGAAGTTCC 0.433 Melanoma(45;390 1181 23848 28461 41504) NA 48 44 0 0 0.01441 0 0 OR2L13 284521 broad.mit.edu 37 1 248263110 248263111 + Missense_Mutation DNP GG GG TT TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:248263110_248263111GG>TT uc001ids.2 + 3 770_771 c.433_434GG>TT c.(433-435)GGA>TTA p.G145L NM_175911 NP_787107 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 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;0.0132) GAAGATGATTGGAGGCTCTTGG 0.485 NA 82 275 0 0 0.004672 0 0 TUBB8 347688 broad.mit.edu 37 10 93393 93393 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:93393C>A uc001ifi.2 - 4 939 c.939G>T c.(937-939)GCG>GCT p.A313A TUBB8_uc009xhe.2_Silent_p.A276A|TUBB8_uc010pzs.1_Silent_p.A241A NM_177987 NP_817124 Q3ZCM7 TBB8_HUMAN tubulin, beta 8 isoform 1 313 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity ovary(1) 1 all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235) Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132) AAATGGCAGCCGCCGTTAGGT 0.537 Pancreas(192;2041 3010 9013 18103) NA 54 33 2.14255e-21 3.58567e-21 0.01441 1 0 CUBN 8029 broad.mit.edu 37 10 17146427 17146427 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:17146427G>A uc001ioo.2 - 12 1460 c.1408C>T c.(1408-1410)CCT>TCT p.P470S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 470 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) CCTTGCTGAGGAACCTGACAG 0.488 NA 11 25 0 0 0.013537 0 0 NSUN6 221078 broad.mit.edu 37 10 18931430 18931430 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:18931430A>T uc010qcp.1 - 3 704 c.286T>A c.(286-288)TTA>ATA p.L96I NM_182543 NP_872349 Q8TEA1 NSUN6_HUMAN NOL1/NOP2/Sun domain family, member 6 96 methyltransferase activity|RNA binding ovary(2) 2 GGAATAAGTAACACATCTTGA 0.308 NA 34 67 0 0 0.003755 0 0 PARD3 56288 broad.mit.edu 37 10 34400396 34400396 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:34400396T>A uc010qej.1 - 25 3772 c.3772A>T c.(3772-3774)AGG>TGG p.R1258W PARD3_uc010qek.1_Missense_Mutation_p.R1255W|PARD3_uc010qel.1_Missense_Mutation_p.R1221W|PARD3_uc010qem.1_Missense_Mutation_p.R1242W|PARD3_uc010qen.1_Missense_Mutation_p.R1212W|PARD3_uc010qeo.1_Missense_Mutation_p.R1175W|PARD3_uc010qep.1_Missense_Mutation_p.R1168W|PARD3_uc010qeq.1_Missense_Mutation_p.R1146W|uc001ixe.1_5'Flank NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1258 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CTGGAGTACCTGGGGTTCTCT 0.572 NA 60 28 0 0 0.01441 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37433954 37433954 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:37433954G>A uc001iza.1 + 8 1356 c.1257G>A c.(1255-1257)GAG>GAA p.E419E NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 475 nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 CCAAACAAGAGGAAGATGAAG 0.259 NA 61 33 0 0 0.01441 0 0 Unknown 0 broad.mit.edu 37 10 49218553 49218553 + Missense_Mutation SNP T T C rs77581903 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:49218553T>C uc001jgd.2 - 8 1745 c.1586A>G c.(1585-1587)CAT>CGT p.H529R uc001jge.1_5'Flank RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975; NA ATATTTGGAATGGATCCAGCG 0.567 NA 6 12 0 0 0.001984 0 0 PNLIPRP3 119548 broad.mit.edu 37 10 118202626 118202626 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:118202626C>A uc001lcl.3 + 3 365 c.264C>A c.(262-264)ATC>ATA p.I88I NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 88 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) CAGACAAGATCACCCGTATCA 0.383 NA 31 16 2.81731e-10 3.66885e-10 0.010818 1 0 MRGPRE 116534 broad.mit.edu 37 11 3249776 3249776 + Missense_Mutation SNP A A C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:3249776A>C uc001lxq.3 - 2 561 c.251T>G c.(250-252)CTG>CGG p.L84R NM_001039165 NP_001034254 Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 84 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(1)|ovary(1) 2 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) CCGGCCTTGCAGCAAGTCGGG 0.627 NA 25 32 0 0 0.005443 0 0 OR51D1 390038 broad.mit.edu 37 11 4661295 4661295 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:4661295C>A uc010qyk.1 + 1 275 c.275C>A c.(274-276)CCC>CAC p.P92H NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ATCACCATGCCCAAGATGGCC 0.527 NA 27 38 2.79863e-10 3.66885e-10 0.004656 1 0 CCKBR 887 broad.mit.edu 37 11 6291448 6291448 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:6291448G>T uc001mcp.2 + 3 727 c.534G>T c.(532-534)ACG>ACT p.T178T CCKBR_uc001mcq.2_Silent_p.T106T|CCKBR_uc001mcr.2_Silent_p.T178T|CCKBR_uc001mcs.2_Silent_p.T178T NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 178 Helical; Name=4; (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) TTGTAGCCACGTGGCTGCTGT 0.657 NA 24 21 2.41591e-17 3.76998e-17 0.004656 1 0 INSC 387755 broad.mit.edu 37 11 15243094 15243094 + Silent SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:15243094T>A uc001mly.2 + 8 1078 c.1032T>A c.(1030-1032)GCT>GCA p.A344A INSC_uc001mlz.2_Silent_p.A297A|INSC_uc001mma.2_Silent_p.A297A|INSC_uc010rcs.1_Silent_p.A332A|INSC_uc001mmb.2_Silent_p.A297A|INSC_uc001mmc.2_Silent_p.A255A NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 344 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 GGGCTGAGGCTGCGGCTGTGG 0.637 NA 35 31 0 0 0.003755 0 0 IGSF22 283284 broad.mit.edu 37 11 18731092 18731092 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:18731092C>A uc009yht.2 - 18 3030 c.2840G>T c.(2839-2841)TGG>TTG p.W947L IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 846 Fibronectin type-III 2. ovary(4)|large_intestine(2)|kidney(1) 7 GCACTTGGACCACTCCTTTGT 0.562 NA 36 37 1.414e-09 1.78402e-09 0.003755 1 0 SLC17A6 57084 broad.mit.edu 37 11 22387098 22387098 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:22387098T>C uc001mqk.2 + 7 1167 c.754T>C c.(754-756)TTT>CTT p.F252L NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 252 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 TGCAGGAAGCTTTGGAATGGT 0.383 NA 6 95 0 0 0.001168 0 0 BBOX1 8424 broad.mit.edu 37 11 27078781 27078781 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:27078781G>A uc001mre.1 + 4 621 c.253G>A c.(253-255)GAA>AAA p.E85K BBOX1_uc009yih.1_Missense_Mutation_p.E85K|BBOX1_uc001mrg.1_Missense_Mutation_p.E85K NM_003986 NP_003977 O75936 BODG_HUMAN gamma-butyrobetaine dioxygenase 85 carnitine biosynthetic process actin cytoskeleton|cytosol|intracellular membrane-bounded organelle gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Succinic acid(DB00139)|Vitamin C(DB00126) GCATTACAGTGAATTCCAGGC 0.403 NA 19 95 0 0 0.00278 0 0 DCDC1 341019 broad.mit.edu 37 11 31287134 31287134 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:31287134C>A uc001msv.2 - 8 1176 c.974G>T c.(973-975)TGT>TTT p.C325F DCDC1_uc001msu.1_5'UTR NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 325 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) TCTTATTGTACAAGTATCTAA 0.234 NA 12 15 1.08611e-07 1.30915e-07 0.010729 1 0 CCDC73 493860 broad.mit.edu 37 11 32663549 32663549 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:32663549T>C uc001mtv.2 - 13 1063 c.1019A>G c.(1018-1020)CAT>CGT p.H340R CCDC73_uc001mtw.1_Missense_Mutation_p.H330R NM_001008391 NP_001008392 Q6ZRK6 CCD73_HUMAN sarcoma antigen NY-SAR-79 340 Potential. ovary(1)|central_nervous_system(1) 2 Breast(20;0.112) TGCTTTTTCATGCTCATTTTG 0.244 NA 7 26 0 0 0.00308 0 0 RAG1 5896 broad.mit.edu 37 11 36594888 36594888 + Missense_Mutation SNP A A C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:36594888A>C uc001mwu.3 + 2 158 c.34A>C c.(34-36)AGT>CGT p.S12R RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 12 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) CTTGGGACTCAGTTCTGCCCC 0.433 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 6 69 0 0 0.001168 0 0 OR4C15 81309 broad.mit.edu 37 11 55322373 55322373 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:55322373G>A uc010rig.1 + 1 591 c.591G>A c.(589-591)CTG>CTA p.L197L NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTGGCATTCTGATGGGGGTAG 0.473 NA HNSCC(20;0.049) 37 40 0 0 0.005524 0 0 OR8I2 120586 broad.mit.edu 37 11 55861237 55861237 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:55861237G>T uc010rix.1 + 1 454 c.454G>T c.(454-456)GGC>TGC p.G152C NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 152 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) ATATGTGATAGGCTTCACAAG 0.443 NA 16 101 1.15088e-07 1.37494e-07 0.004007 1 0 OR5T1 390155 broad.mit.edu 37 11 56043390 56043390 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:56043390A>T uc001nio.1 + 1 276 c.276A>T c.(274-276)AAA>AAT p.K92N NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TCACTCCAAAAATGTTGGTCA 0.373 NA 19 92 0 0 0.006122 0 0 CTNND1 1500 broad.mit.edu 37 11 57575995 57575995 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:57575995G>T uc001nmc.3 + 14 2796 c.2225G>T c.(2224-2226)CGC>CTC p.R742L CTNND1_uc001nlh.1_Missense_Mutation_p.R742L|CTNND1_uc001nlu.3_Missense_Mutation_p.R635L|CTNND1_uc001nlt.3_Missense_Mutation_p.R635L|CTNND1_uc001nls.3_Missense_Mutation_p.R635L|CTNND1_uc001nlw.3_Missense_Mutation_p.R635L|CTNND1_uc001nmf.3_Missense_Mutation_p.R742L|CTNND1_uc001nmd.3_Missense_Mutation_p.R688L|CTNND1_uc001nlk.3_Missense_Mutation_p.R688L|CTNND1_uc001nme.3_Missense_Mutation_p.R736L|CTNND1_uc001nll.3_Missense_Mutation_p.R682L|CTNND1_uc001nmg.3_Missense_Mutation_p.R682L|CTNND1_uc001nlj.3_Missense_Mutation_p.R682L|CTNND1_uc001nlr.3_Missense_Mutation_p.R682L|CTNND1_uc001nlp.3_Missense_Mutation_p.R682L|CTNND1_uc001nlx.3_Missense_Mutation_p.R419L|CTNND1_uc001nlz.3_Missense_Mutation_p.R419L|CTNND1_uc009ymn.2_Missense_Mutation_p.R413L|CTNND1_uc001nlm.3_Missense_Mutation_p.R736L|CTNND1_uc001nly.3_Missense_Mutation_p.R413L|CTNND1_uc001nmb.3_Missense_Mutation_p.R413L|CTNND1_uc001nma.3_Missense_Mutation_p.R413L|CTNND1_uc001nmi.3_Missense_Mutation_p.R641L|CTNND1_uc001nmh.3_Missense_Mutation_p.R736L|CTNND1_uc001nlq.3_Missense_Mutation_p.R641L|CTNND1_uc001nln.3_Missense_Mutation_p.R736L|CTNND1_uc001nli.3_Missense_Mutation_p.R736L|CTNND1_uc001nlo.3_Missense_Mutation_p.R635L|CTNND1_uc001nlv.3_Missense_Mutation_p.R635L NM_001085458 NP_001078927 O60716 CTND1_HUMAN catenin, delta 1 isoform 1ABC 742 ARM 9. adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytosol|midbody|nucleus cadherin binding|protein binding|receptor binding breast(4)|ovary(1)|kidney(1) 6 all_epithelial(135;0.155) GTGGATGCTCGCAACAAAGAA 0.428 NA 38 25 4.14481e-20 6.76874e-20 0.00623 1 0 ZFP91 80829 broad.mit.edu 37 11 58385171 58385171 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:58385171G>T uc001nmx.3 + 11 1873 c.1705G>T c.(1705-1707)GGA>TGA p.G569* ZFP91_uc001nmy.3_Nonsense_Mutation_p.G568*|ZFP91-CNTF_uc010rkm.1_Intron NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 569 activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) AGACTCTGCCGGACCTTAGTG 0.308 NA 66 51 1.31311e-47 2.6069e-47 0.01441 1 0 RCE1 9986 broad.mit.edu 37 11 66613459 66613459 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:66613459T>C uc001ojk.1 + 8 927 c.883T>C c.(883-885)TTC>CTC p.F295L RCE1_uc001ojl.1_Missense_Mutation_p.F191L NM_005133 NP_005124 Q9Y256 FACE2_HUMAN prenyl protein peptidase RCE1 isoform 1 295 Helical; (Potential). proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity ovary(1)|breast(1) 2 TGTGGGACTCTTCCTGCTTCT 0.627 NA 31 66 0 0 0.009535 0 0 P2RY6 5031 broad.mit.edu 37 11 73008427 73008427 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:73008427G>A uc001otm.2 + 4 1269 c.864G>A c.(862-864)CCG>CCA p.P288P P2RY6_uc001otn.2_Silent_p.P288P|P2RY6_uc001oto.2_Silent_p.P288P|P2RY6_uc001otp.2_Silent_p.P288P|P2RY6_uc001otq.2_Silent_p.P288P|P2RY6_uc001otr.2_Silent_p.P288P|P2RY6_uc001ots.2_Silent_p.P288P NM_176796 NP_789766 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y6 288 Helical; Name=7; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 GCACGCGGCCGTTTGCCAGTG 0.602 NA 5 50 0 0 0.000602 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74904298 74904298 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:74904298C>T uc001owb.2 + 9 1498 c.1111C>T c.(1111-1113)CCC>TCC p.P371S SLCO2B1_uc010rrq.1_Missense_Mutation_p.P116S|SLCO2B1_uc010rrr.1_Missense_Mutation_p.P227S|SLCO2B1_uc010rrs.1_Missense_Mutation_p.P255S|SLCO2B1_uc001owc.2_Missense_Mutation_p.P144S|SLCO2B1_uc001owd.2_Missense_Mutation_p.P349S NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 371 Helical; Name=7; (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) CCTACGCCACCCCATCTTCCT 0.627 NA 40 20 0 0 0.005524 0 0 GDPD4 220032 broad.mit.edu 37 11 76944186 76944186 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:76944186C>T uc001oyf.2 - 13 1524 c.1273G>A c.(1273-1275)GTA>ATA p.V425I NM_182833 NP_878253 Q6W3E5 GDPD4_HUMAN glycerophosphodiester phosphodiesterase domain 425 GDPD.|Extracellular (Potential). glycerol metabolic process|lipid metabolic process integral to membrane glycerophosphodiester phosphodiesterase activity|metal ion binding skin(1) 1 ACGGTGTATACGTTGATATGG 0.438 NA 30 25 0 0 0.010818 0 0 CASP5 838 broad.mit.edu 37 11 104871047 104871047 + Missense_Mutation SNP C C T rs45464699 byFrequency TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:104871047C>T uc010rva.1 - 6 925 c.893G>A c.(892-894)CGC>CAC p.R298H CASP5_uc010ruz.1_Missense_Mutation_p.R311H|CASP5_uc010rvb.1_Missense_Mutation_p.R240H|CASP5_uc010rvc.1_Missense_Mutation_p.R156H|CASP5_uc009yxh.2_Missense_Mutation_p.R80H|CASP5_uc010rvd.1_Missense_Mutation_p.R80H NM_004347 NP_004338 P51878 CASP5_HUMAN caspase 5 isoform a precursor 298 R -> H. apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis intracellular cysteine-type endopeptidase activity|protein binding ovary(2)|lung(1) 3 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042) GAGGCAGTTGCGGTTGTTGAA 0.468 NA 31 100 0 0 0.003271 0 0 FXYD2 486 broad.mit.edu 37 11 117693433 117693433 + Splice_Site SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:117693433C>T uc001prj.2 - 2 92 c.26_splice c.e2-1 p.G9_splice FXYD2_uc001prl.2_Intron|FXYD2_uc001prk.1_Splice_Site_p.G7_splice NM_001680 NP_001671 P54710 ATNG_HUMAN FXYD domain-containing ion transport regulator 2 sodium:potassium-exchanging ATPase complex ion channel activity|sodium:potassium-exchanging ATPase activity 0 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|Breast(348;0.111)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;2.83e-05)|Epithelial(105;0.00114) Cyclothiazide(DB00606) GGGCTGCCGCCTAGGAGAGAG 0.637 NA 8 9 0 0 0.00308 0 0 CLEC12B 387837 broad.mit.edu 37 12 10168005 10168005 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:10168005G>T uc001qwz.2 + 4 692 c.564G>T c.(562-564)AAG>AAT p.K188N CLEC12B_uc001qwx.1_Missense_Mutation_p.K188N|CLEC12B_uc001qwy.1_Missense_Mutation_p.K85N|CLEC12B_uc009zhe.2_RNA NM_001129998 NP_001123470 Q2HXU8 CL12B_HUMAN C-type lectin domain family 12, member B isoform 188 Extracellular (Potential).|C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding 0 TGGAAGAAAAGGTAGGATTGA 0.358 NA 5 35 3.59834e-05 3.99267e-05 0.001168 1 0 LRP6 4040 broad.mit.edu 37 12 12340001 12340001 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:12340001C>T uc001rah.3 - 4 842 c.700G>A c.(700-702)GAG>AAG p.E234K BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.E234K NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 234 Extracellular (Potential).|Beta-propeller 1.|LDL-receptor class B 4. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) AATATGTCCTCAAATAACGTC 0.393 NA 29 39 0 0 0.00632 0 0 CMAS 55907 broad.mit.edu 37 12 22214339 22214339 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:22214339G>T uc001rfm.2 + 6 992 c.913G>T c.(913-915)GTA>TTA p.V305L CMAS_uc001rfn.2_Intron NM_018686 NP_061156 Q8NFW8 NEUA_HUMAN cytidine monophospho-N-acetylneuraminic acid 305 lipopolysaccharide biosynthetic process nucleus N-acylneuraminate cytidylyltransferase activity ovary(1)|pancreas(1)|skin(1) 3 ATCTTATGATGTAAAAGATGC 0.313 NA 21 67 1.15919e-05 1.31137e-05 0.008871 1 0 FGD4 121512 broad.mit.edu 37 12 32735020 32735020 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:32735020G>A uc001rkz.2 + 4 696 c.219G>A c.(217-219)CAG>CAA p.Q73Q FGD4_uc001rlc.2_Silent_p.Q158Q|FGD4_uc001rky.2_5'UTR|FGD4_uc001rla.2_5'UTR|FGD4_uc010ske.1_Silent_p.Q185Q|FGD4_uc001rlb.1_RNA|FGD4_uc001rkx.3_Silent_p.Q73Q NM_139241 NP_640334 Q96M96 FGD4_HUMAN FYVE, RhoGEF and PH domain containing 4 73 Actin filament-binding (By similarity). actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) ACTTGCCACAGAGGCAGGGAA 0.493 NA 32 68 0 0 0.003755 0 0 NAV3 89795 broad.mit.edu 37 12 78443851 78443851 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:78443851C>A uc001syp.2 + 10 2275 c.2102C>A c.(2101-2103)TCC>TAC p.S701Y NAV3_uc001syo.2_Missense_Mutation_p.S701Y|NAV3_uc010sub.1_Missense_Mutation_p.S201Y NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 701 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GAGACTATGTCCAGTCTTCGT 0.328 NA HNSCC(70;0.22) 25 19 4.22769e-11 5.66959e-11 0.00632 1 0 NAV3 89795 broad.mit.edu 37 12 78515872 78515872 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:78515872C>A uc001syp.2 + 16 4075 c.3902C>A c.(3901-3903)GCT>GAT p.A1301D NAV3_uc001syo.2_Missense_Mutation_p.A1301D|NAV3_uc010sub.1_Missense_Mutation_p.A801D|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1301 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ATGGGCAGTGCTGGTGGGCTA 0.552 NA HNSCC(70;0.22) 16 19 8.60227e-14 1.24426e-13 0.004007 1 0 C12orf50 160419 broad.mit.edu 37 12 88381709 88381709 + Silent SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:88381709T>A uc001tam.1 - 9 903 c.735A>T c.(733-735)CTA>CTT p.L245L C12orf50_uc001tan.2_Intron NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 245 skin(2)|ovary(1) 3 GTCGGGTAGTTAGGGAATGCT 0.343 NA 24 19 0 0 0.00632 0 0 GALNT4 8693 broad.mit.edu 37 12 89918307 89918307 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:89918307C>G uc001tbd.2 - 1 229 c.20G>C c.(19-21)TGG>TCG p.W7S POC1B_uc001tba.2_Intron|POC1B_uc001tbb.2_Intron|POC1B_uc001tbc.2_Intron|POC1B_uc010sun.1_Intron|GALNT4_uc001tbe.2_Intron|GALNT4_uc010suo.1_Intron NM_003774 NP_003765 Q8N4A0 GALT4_HUMAN polypeptide N-acetylgalactosaminyltransferase 4 7 Cytoplasmic (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 CTTGCCTGCCCAAGTCCACCT 0.627 NA OREG0022018 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 17 0 0 0.00499 0 0 AMDHD1 144193 broad.mit.edu 37 12 96361533 96361533 + Splice_Site SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:96361533G>C uc001tel.1 + 9 1300 c.1194_splice c.e9-1 p.R398_splice AMDHD1_uc009zth.1_Splice_Site_p.R289_splice NM_152435 NP_689648 Q96NU7 HUTI_HUMAN amidohydrolase domain containing 1 histidine catabolic process to glutamate and formamide cytosol imidazolonepropionase activity|metal ion binding central_nervous_system(1) 1 TTTTTTTCTAGATGGGAGCAT 0.264 NA 5 6 0 0 0.001984 0 0 UBE3B 89910 broad.mit.edu 37 12 109921467 109921467 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:109921467G>T uc001top.2 + 3 714 c.111G>T c.(109-111)CAG>CAT p.Q37H UBE3B_uc001toq.2_Missense_Mutation_p.Q37H|UBE3B_uc001tol.1_Missense_Mutation_p.Q37H|UBE3B_uc001tom.2_Missense_Mutation_p.Q37H|UBE3B_uc001ton.2_Missense_Mutation_p.Q37H|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.Q37H|UBE3B_uc001tor.2_Missense_Mutation_p.Q37H NM_130466 NP_569733 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 37 IQ. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity ovary(2)|lung(2) 4 TTGTGATCCAGGCCCATGTCC 0.532 NA 66 50 1.1794e-34 2.25311e-34 0.01441 1 0 TRPV4 59341 broad.mit.edu 37 12 110236693 110236693 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:110236693G>T uc001tpj.1 - 5 973 c.878C>A c.(877-879)GCC>GAC p.A293D TRPV4_uc001tpg.1_Missense_Mutation_p.A259D|TRPV4_uc001tph.1_Missense_Mutation_p.A246D|TRPV4_uc001tpi.1_Missense_Mutation_p.A246D|TRPV4_uc001tpk.1_Missense_Mutation_p.A293D|TRPV4_uc001tpl.1_Missense_Mutation_p.A293D NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN transient receptor potential cation channel, 293 Cytoplasmic (Potential).|ANK 2. actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 GTTGGTGCAGGCAGCCAGCGA 0.667 NA 27 31 8.16721e-17 1.2435e-16 0.010818 1 0 RBM19 9904 broad.mit.edu 37 12 114374839 114374839 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:114374839C>T uc009zwi.2 - 16 2185 c.2041G>A c.(2041-2043)GAA>AAA p.E681K RBM19_uc001tvn.3_Missense_Mutation_p.E681K|RBM19_uc001tvm.2_Missense_Mutation_p.E681K NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 681 multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) GGGTCCTTTTCCATGGGTTCT 0.567 NA 11 118 0 0 0.013537 0 0 MAP1LC3B2 643246 broad.mit.edu 37 12 117013775 117013775 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:117013775C>G uc009zwk.1 + 2 182 c.28C>G c.(28-30)CGG>GGG p.R10G NM_001085481 NP_001078950 A6NCE7 MP3B2_HUMAN microtubule-associated protein 1 light chain 3 10 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule 0 CTTCAAGCAGCGGCGCACCTT 0.607 NA 14 62 0 0 0.00245 0 0 KSR2 283455 broad.mit.edu 37 12 117907527 117907527 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:117907527T>A uc001two.2 - 19 2754 c.2699A>T c.(2698-2700)GAG>GTG p.E900V NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 929 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGGCAGTTTCTCCAGCATGTC 0.483 NA 15 11 0 0 0.004007 0 0 RIMBP2 23504 broad.mit.edu 37 12 130926753 130926753 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:130926753G>T uc001uil.2 - 8 1257 c.1093C>A c.(1093-1095)CGC>AGC p.R365S RIMBP2_uc001uim.2_Missense_Mutation_p.R273S|RIMBP2_uc001uin.1_Missense_Mutation_p.R24S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 365 Fibronectin type-III 1. 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) ACGGAGATGCGGTAGGTGCAG 0.627 NA 40 26 2.2871e-25 4.00984e-25 0.007835 1 0 EP400 57634 broad.mit.edu 37 12 132529882 132529882 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr12:132529882A>G uc001ujn.2 + 37 6838 c.6803A>G c.(6802-6804)AAG>AGG p.K2268R EP400_uc001ujl.2_Missense_Mutation_p.K2267R|EP400_uc001ujm.2_Missense_Mutation_p.K2187R NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2304 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGGAAGAAGAAGCAGCGTCAC 0.557 NA 6 24 0 0 0.001168 0 0 IFT88 8100 broad.mit.edu 37 13 21166539 21166539 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:21166539G>C uc001unh.2 + 9 817 c.421G>C c.(421-423)GAT>CAT p.D141H IFT88_uc001uni.2_Missense_Mutation_p.D132H|IFT88_uc001unj.2_Missense_Mutation_p.D131H|IFT88_uc010tcq.1_Missense_Mutation_p.D112H NM_175605 NP_783195 Q13099 IFT88_HUMAN intraflagellar transport 88 homolog isoform 1 141 cilium morphogenesis centriole|intraflagellar transport particle B|microtubule basal body|microtubule-based flagellum protein binding ovary(1) 1 all_cancers(29;5.79e-25)|all_epithelial(30;2.57e-20)|all_lung(29;3.13e-16)|Lung SC(185;0.0262)|Ovarian(182;0.0825)|Hepatocellular(188;0.244) all cancers(112;0.000667)|Epithelial(112;0.00119)|OV - Ovarian serous cystadenocarcinoma(117;0.0141)|Lung(94;0.0183)|LUSC - Lung squamous cell carcinoma(192;0.0528) CAAGAAAAAAGATAGGTATGT 0.323 NA 3 37 0 0 0.009096 0 0 C13orf23 80209 broad.mit.edu 37 13 39586310 39586310 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:39586310C>A uc001uwy.2 - 12 3495 c.2622G>T c.(2620-2622)CCG>CCT p.P874P C13orf23_uc001uwz.2_Silent_p.P852P NM_025138 NP_079414 Q86XN7 CM023_HUMAN hypothetical protein LOC80209 isoform 1 874 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) CAGGGATACCCGGGAGGGACA 0.453 NA 19 148 4.96729e-08 6.02321e-08 0.008871 1 0 DIAPH3 81624 broad.mit.edu 37 13 60485886 60485886 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:60485886C>T uc001vht.2 - 20 2569 c.2350G>A c.(2350-2352)GAG>AAG p.E784K DIAPH3_uc001vhu.2_Missense_Mutation_p.E521K|DIAPH3_uc001vhv.2_Missense_Mutation_p.E362K NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 784 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ACAAACTGCTCAGGTTCACAT 0.343 NA 19 25 0 0 0.007413 0 0 GPC5 2262 broad.mit.edu 37 13 92797141 92797141 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:92797141G>T uc010tif.1 + 7 1826 c.1460G>T c.(1459-1461)GGT>GTT p.G487V NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 487 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CTGGGCAGTGGTGGAGGCATG 0.463 NA 25 55 8.24728e-16 1.24169e-15 0.004656 1 0 NALCN 259232 broad.mit.edu 37 13 101748033 101748033 + Splice_Site SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:101748033T>C uc001vox.1 - 28 3352 c.3163_splice c.e28-1 p.E1055_splice NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) GCAATCTTCCTAAAGTAGAAA 0.378 NA 11 62 0 0 0.010729 0 0 DAOA 267012 broad.mit.edu 37 13 106119472 106119472 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:106119472A>T uc001vqb.2 + 2 389 c.115A>T c.(115-117)AAC>TAC p.N39Y DAOA_uc010tjf.1_5'UTR|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_5'UTR|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 39 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) CAAATCTGAAAACTCTCTAAA 0.284 NA 8 62 0 0 0.004482 0 0 MYO16 23026 broad.mit.edu 37 13 109707460 109707460 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr13:109707460G>A uc001vqt.1 + 26 3175 c.3049G>A c.(3049-3051)GCA>ACA p.A1017T MYO16_uc010agk.1_Missense_Mutation_p.A1039T|MYO16_uc001vqu.1_Missense_Mutation_p.A817T|MYO16_uc010tjh.1_Missense_Mutation_p.A529T NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1017 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) AGTCACCATAGCATCACAACT 0.328 NA 7 26 0 0 0.006214 0 0 OR4M1 441670 broad.mit.edu 37 14 20248996 20248996 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:20248996A>G uc010tku.1 + 1 515 c.515A>G c.(514-516)AAT>AGT p.N172S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 172 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGTGGGCCCAATGAGTTAGAC 0.498 NA 107 250 0 0 0.01441 0 0 NGDN 25983 broad.mit.edu 37 14 23944436 23944436 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:23944436G>A uc001wjy.2 + 4 228 c.201G>A c.(199-201)TTG>TTA p.L67L NGDN_uc001wjz.2_Silent_p.L67L|NGDN_uc001wka.2_5'Flank NM_001042635 NP_001036100 Q8NEJ9 NGDN_HUMAN neuroguidin isoform 1 67 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus 0 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TTATGGATTTGACCCACCTCA 0.458 NA 9 163 0 0 0.006214 0 0 FBXO34 55030 broad.mit.edu 37 14 55817595 55817595 + Nonsense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:55817595C>T uc001xbu.2 + 2 732 c.487C>T c.(487-489)CAG>TAG p.Q163* FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Nonsense_Mutation_p.Q163* NM_017943 NP_060413 Q9NWN3 FBX34_HUMAN F-box only protein 34 163 ovary(2)|lung(2)|skin(1) 5 AGCCAAGGTACAGGTGGAAAG 0.438 NA 7 54 0 0 0.00308 0 0 PRKCH 5583 broad.mit.edu 37 14 61917613 61917613 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:61917613C>T uc001xfn.2 + 6 1061 c.756C>T c.(754-756)AAC>AAT p.N252N PRKCH_uc010tsa.1_Silent_p.N91N NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 252 Phorbol-ester/DAG-type 2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) GCATCCACAACTACAAAGTGC 0.448 Melanoma(135;863 1779 8064 14443 26348) NA 20 54 0 0 0.008871 0 0 RPS6KL1 83694 broad.mit.edu 37 14 75388074 75388074 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:75388074G>T uc010tux.1 - 2 699 c.171C>A c.(169-171)ATC>ATA p.I57I RPS6KL1_uc001xqw.2_Silent_p.I57I|RPS6KL1_uc010asd.1_RNA|RPS6KL1_uc001xqy.1_Silent_p.I57I NM_031464 NP_113652 Q9Y6S9 RPKL1_HUMAN ribosomal protein S6 kinase-like 1 57 ribosome ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.00658) GGGCCAGCCGGATCTGCGTGG 0.592 NA 19 81 7.45023e-12 1.02981e-11 0.010504 1 0 MLH3 27030 broad.mit.edu 37 14 75515141 75515141 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:75515141C>T uc001xrd.1 - 2 1434 c.1218G>A c.(1216-1218)TTG>TTA p.L406L MLH3_uc001xre.1_Silent_p.L406L|MLH3_uc010tuy.1_RNA NM_001040108 NP_001035197 Q9UHC1 MLH3_HUMAN mutL homolog 3 isoform 1 406 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00688) CTTTTGACTGCAAATTAAACA 0.353 NA MMR 13 41 0 0 0.013537 0 0 TSHR 7253 broad.mit.edu 37 14 81534648 81534648 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:81534648A>G uc001xvd.1 + 3 449 c.293A>G c.(292-294)TAC>TGC p.Y98C TSHR_uc001xvb.1_Missense_Mutation_p.Y98C|TSHR_uc001xvc.2_Missense_Mutation_p.Y98C|TSHR_uc010tvs.1_Missense_Mutation_p.Y98C NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 98 Extracellular (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) CACTCCTTCTACAATTTGAGT 0.403 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 14 47 0 0 0.004007 0 0 BTBD7 55727 broad.mit.edu 37 14 93709365 93709365 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:93709365C>A uc001ybo.2 - 11 2979 c.2653G>T c.(2653-2655)GAC>TAC p.D885Y BTBD7_uc010aur.2_Missense_Mutation_p.D410Y|BTBD7_uc010two.1_Missense_Mutation_p.D705Y|BTBD7_uc001ybp.2_Missense_Mutation_p.D534Y NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 885 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) AGCCTCCTGTCCTTGAGTGAC 0.532 NA 19 163 6.94344e-10 8.89903e-10 0.006122 1 0 KIAA1409 57578 broad.mit.edu 37 14 94139777 94139777 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:94139777T>A uc001ybv.1 + 40 6452 c.6369T>A c.(6367-6369)GAT>GAA p.D2123E KIAA1409_uc001ybs.1_Missense_Mutation_p.D2101E NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2278 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CTTTACCAGATACAAACCTTC 0.378 NA 24 146 0 0 0.007291 0 0 TCL1B 9623 broad.mit.edu 37 14 96157078 96157078 + Missense_Mutation SNP A A C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:96157078A>C uc001yez.2 + 2 210 c.168A>C c.(166-168)GAA>GAC p.E56D TCL1B_uc001yew.2_RNA|TCL1B_uc001yex.2_RNA|TCL1B_uc010avj.2_RNA|TCL1B_uc001yfa.2_Missense_Mutation_p.E56D NM_004918 NP_004909 O95988 TCL1B_HUMAN T-cell leukemia/lymphoma 1B 56 ovary(1) 1 all_cancers(154;0.103) COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248) TTCAGTATGAACCCAGCATCA 0.602 NA 5 145 0 0 0.001168 0 0 BEGAIN 57596 broad.mit.edu 37 14 101004814 101004814 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:101004814T>C uc010txa.1 - 6 1420 c.1274A>G c.(1273-1275)GAC>GGC p.D425G BEGAIN_uc001yhp.2_Missense_Mutation_p.D361G|BEGAIN_uc001yhq.2_Missense_Mutation_p.D425G NM_001159531 NP_001153003 Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 425 cytoplasm|membrane protein binding 0 Melanoma(154;0.212) GGCGCCGATGTCCTCCACGCT 0.731 NSCLC(159;1889 2010 9965 27479 40101) NA 5 15 0 0 0.001168 0 0 ADAM6 8755 broad.mit.edu 37 14 106805666 106805666 + Splice_Site SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr14:106805666G>T uc010tyt.1 - 359 c.13625_splice c.e359-1 uc001ysw.1_5'Flank Parts of antibodies, mostly variable regions. 0 GGAGGTCCAGGACTCTCAGAA 0.498 NA 10 14 4.14922e-12 5.7946e-12 0.004007 1 0 OR4N4 283694 broad.mit.edu 37 15 22382661 22382661 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr15:22382661G>T uc001yuc.1 + 7 1170 c.189G>T c.(187-189)CTG>CTT p.L63L LOC727924_uc001yub.1_RNA|OR4N4_uc010tzv.1_Silent_p.L63L NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN olfactory receptor, family 4, subfamily N, 63 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 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) ATTTATTTCTGGGCAACTTGG 0.458 NA 13 232 6.97489e-18 1.12096e-17 0.004878 1 0 C15orf2 23742 broad.mit.edu 37 15 24923271 24923271 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr15:24923271G>T uc001ywo.2 + 1 2731 c.2257G>T c.(2257-2259)GTC>TTC p.V753F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 753 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TGCACAGTCAGTCAGGGCACC 0.567 NA 78 65 1.75807e-36 3.37449e-36 0.01441 1 0 MYEF2 50804 broad.mit.edu 37 15 48435217 48435217 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr15:48435217C>A uc001zwi.3 - 17 1815 c.1691G>T c.(1690-1692)TGT>TTT p.C564F MYEF2_uc001zwg.3_Missense_Mutation_p.C102F|MYEF2_uc001zwh.3_Missense_Mutation_p.C152F|MYEF2_uc001zwj.3_Missense_Mutation_p.C540F NM_016132 NP_057216 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 564 RRM 3. transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding lung(2)|ovary(1) 3 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) GACTGTTCCACAGCCTTTTGA 0.348 NA 21 17 7.45023e-12 1.02981e-11 0.010504 1 0 C15orf39 56905 broad.mit.edu 37 15 75499431 75499431 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr15:75499431G>T uc002azp.3 + 2 1362 c.1042G>T c.(1042-1044)GCC>TCC p.A348S C15orf39_uc002azq.3_Missense_Mutation_p.A348S|C15orf39_uc002azr.3_5'Flank NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN hypothetical protein LOC56905 348 0 CTACCCCTCTGCCCCTCTCCC 0.647 NA 51 37 1.89013e-27 3.40223e-27 0.01441 1 0 MEX3B 84206 broad.mit.edu 37 15 82336286 82336286 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr15:82336286C>A uc002bgq.1 - 2 1240 c.925G>T c.(925-927)GCA>TCA p.A309S NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 309 protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 GTAGCCGCTGCGCTGCTGCTG 0.617 NA 27 23 1.42536e-11 1.95684e-11 0.004656 1 0 OR4F15 390649 broad.mit.edu 37 15 102358587 102358587 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr15:102358587C>A uc010uts.1 + 1 198 c.198C>A c.(196-198)CTC>CTA p.L66L NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 66 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TGGCTAACCTCTCAATCATTG 0.428 NA 52 85 1.63038e-21 2.73985e-21 0.01441 1 0 PTX4 390667 broad.mit.edu 37 16 1537678 1537678 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:1537678G>T uc010uvf.1 - 2 420 c.420C>A c.(418-420)GCC>GCA p.A140A NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN neuronal pentraxin II-like 145 extracellular region metal ion binding 0 CGTCCCTCTGGGCCTTGTGTG 0.726 NA 16 15 1.37522e-17 2.17565e-17 0.007413 1 0 GPR139 124274 broad.mit.edu 37 16 20043958 20043958 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:20043958A>T uc002dgu.1 - 2 323 c.161T>A c.(160-162)CTG>CAG p.L54Q GPR139_uc010vaw.1_5'UTR NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 54 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2) 2 TCTTGCCACCAGCTGGGAGAG 0.483 NA 20 13 0 0 0.014323 0 0 ACSM5 54988 broad.mit.edu 37 16 20429402 20429402 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:20429402C>A uc002dhe.2 + 3 373 c.226C>A c.(226-228)CCT>ACT p.P76T ACSM5_uc002dhd.1_Missense_Mutation_p.P76T NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 76 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 CCCCCCAAATCCTGCCTTCTG 0.493 NA 10 9 0.000673444 0.000708428 0.008291 1 0 KIAA0556 23247 broad.mit.edu 37 16 27585278 27585278 + Splice_Site SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:27585278G>T uc002dow.2 + 2 87 c.63_splice c.e2+1 p.E21_splice NM_015202 NP_056017 O60303 K0556_HUMAN hypothetical protein LOC23247 ovary(4)|large_intestine(2)|upper_aerodigestive_tract(1)|skin(1) 8 GAAAAAGGAGGTAAATGTGTC 0.493 NA 8 55 1.12685e-05 1.28195e-05 0.004482 1 0 ZNF423 23090 broad.mit.edu 37 16 49669627 49669627 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:49669627G>T uc002efs.2 - 5 3734 c.3436C>A c.(3436-3438)CTC>ATC p.L1146I ZNF423_uc010vgn.1_Missense_Mutation_p.L1029I NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1146 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TCCGGCGTGAGGTCACGGTGG 0.662 NA 38 60 3.38236e-24 5.8792e-24 0.006999 1 0 NLRC5 84166 broad.mit.edu 37 16 57111855 57111855 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:57111855G>T uc002ekk.1 + 43 5229 c.5004G>T c.(5002-5004)ATG>ATT p.M1668I NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Missense_Mutation_p.M210I|NLRC5_uc002ekr.1_Missense_Mutation_p.M555I NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 1668 LRR 22. defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CCTCTTCCAGGCTTGGCTGCA 0.677 NA 8 21 6.40141e-05 6.96928e-05 0.010729 1 0 DPEP3 64180 broad.mit.edu 37 16 68012481 68012481 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:68012481G>T uc002evc.3 - 3 632 c.538C>A c.(538-540)CGC>AGC p.R180S DPEP3_uc010cex.2_Missense_Mutation_p.R180S NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 155 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) AGGGCGAGGCGCACGGCAGTC 0.607 NA 56 59 2.78941e-39 5.4313e-39 0.01441 1 0 TAT 6898 broad.mit.edu 37 16 71604626 71604626 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:71604626C>A uc002fap.2 - 8 967 c.868G>T c.(868-870)GGC>TGC p.G290C NM_000353 NP_000344 P17735 ATTY_HUMAN tyrosine aminotransferase 290 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(2) 2 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) AGGATCCAGCCCAACCTCCAG 0.488 Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594) NA 17 12 1.50039e-11 2.0529e-11 0.012319 1 0 CA5A 763 broad.mit.edu 37 16 87936058 87936058 + Silent SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr16:87936058A>T uc002fkn.1 - 4 584 c.528T>A c.(526-528)GGT>GGA p.G176G NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 176 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) TCACAGCCAAACCATTCTCTC 0.368 NA 10 59 0 0 0.010729 0 0 TP53 7157 broad.mit.edu 37 17 7579312 7579312 + Silent SNP C C A rs55863639 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:7579312C>A uc002gim.2 - 4 569 c.375G>T c.(373-375)ACG>ACT p.T125T TP53_uc002gig.1_Silent_p.T125T|TP53_uc002gih.2_Silent_p.T125T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Silent_p.T125T|TP53_uc010cni.1_Silent_p.T125T|TP53_uc002gij.2_Silent_p.T125T|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Silent_p.T86T|TP53_uc010cnk.1_Silent_p.T140T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 125 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). T -> A (in a sporadic cancer; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> R (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation). 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.T125T(15)|p.0?(7)|p.T125M(7)|p.T125K(3)|p.T125R(3)|p.?(2)|p.V73fs*9(1)|p.T125P(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.T125fs*45(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.T125_Y126insX(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) GGCAACTGACCGTGCAAGTCA 0.537 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) 38 29 1.465e-08 1.80892e-08 0.00874 1 0 MYH2 4620 broad.mit.edu 37 17 10439865 10439865 + Silent SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:10439865T>G uc010coi.2 - 17 2084 c.1956A>C c.(1954-1956)ACA>ACC p.T652T uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.T652T|MYH2_uc010coj.2_Silent_p.T652T NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 652 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 GGGCAGACACTGTCTGGAAAG 0.343 NA 13 12 0 0 0.001855 0 0 DNAH9 1770 broad.mit.edu 37 17 11787015 11787015 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:11787015T>C uc002gne.2 + 56 10987 c.10919T>C c.(10918-10920)CTG>CCG p.L3640P DNAH9_uc010coo.2_Missense_Mutation_p.L2934P|DNAH9_uc002gnf.2_5'UTR|DNAH9_uc010vvh.1_5'Flank NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3640 Potential.|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) GAAACAGTGCTGGTGGAAAAC 0.512 NA 42 27 0 0 0.01441 0 0 NF1 4763 broad.mit.edu 37 17 29553702 29553702 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:29553702G>T uc002hgg.2 + 18 2584 c.2251G>T c.(2251-2253)GGA>TGA p.G751* NF1_uc002hgh.2_Nonsense_Mutation_p.G751*|NF1_uc010csn.1_Nonsense_Mutation_p.G611*|NF1_uc002hgi.1_Translation_Start_Site NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 751 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) GATGTCAACAGGTAAATGTGA 0.403 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) 64 44 1.46168e-27 2.64277e-27 0.01441 1 0 SPACA3 124912 broad.mit.edu 37 17 31318959 31318959 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:31318959G>T uc002hhs.1 + 1 78 c.3G>T c.(1-3)ATG>ATT p.M1I SPACA3_uc010cte.1_5'Flank NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN sperm acrosome associated 3 1 Cytoplasmic (Potential). cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.193) TTGTCACCATGGTCTCAGCTC 0.607 NA 14 6 3.41278e-10 4.4159e-10 0.00499 1 0 DDX52 11056 broad.mit.edu 37 17 35979858 35979858 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:35979858C>A uc002hoi.1 - 13 1642 c.1604G>T c.(1603-1605)GGG>GTG p.G535V DDX52_uc002hoh.1_Missense_Mutation_p.G427V NM_007010 NP_008941 Q9Y2R4 DDX52_HUMAN ATP-dependent RNA helicase ROK1 isoform a 535 Helicase C-terminal. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|skin(1) 2 Breast(25;0.00637)|Ovarian(249;0.15) TACAGGACACCCAGCCTGCTG 0.333 NA 25 20 1.55811e-20 2.57565e-20 0.008361 1 0 KRTAP4-3 85290 broad.mit.edu 37 17 39324029 39324029 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:39324029G>T uc010cxl.2 - 1 396 c.396C>A c.(394-396)CCC>CCA p.P132P NM_033187 NP_149443 Q9BYR4 KRA43_HUMAN keratin associated protein 4-3 132 29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].|20. Missing (in allele KAP3-v2). keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) TACAGCAGCTGGGGCGGCAGC 0.622 NA 8 3 0.000442599 0.000472962 0.006214 1 0 KRT33A 3883 broad.mit.edu 37 17 39506806 39506806 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:39506806C>A uc002hwk.1 - 1 251 c.214G>T c.(214-216)GAG>TAG p.E72* NM_004138 NP_004129 O76009 KT33A_HUMAN keratin 33A 72 Coil 1A.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) CGCACCTTCTCCAGGTAGCTG 0.607 NA 34 30 9.88483e-10 1.26289e-09 0.007835 1 0 KIF2B 84643 broad.mit.edu 37 17 51901793 51901793 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:51901793G>T uc002iua.2 + 1 1555 c.1399G>T c.(1399-1401)GAA>TAA p.E467* uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 467 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 AAGGCAGCTGGAAGGGGCAGA 0.493 NA 13 12 1.61879e-10 2.14954e-10 0.013537 1 0 RECQL5 9400 broad.mit.edu 37 17 73627305 73627305 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr17:73627305G>A uc010dgl.2 - 10 1629 c.1473C>T c.(1471-1473)AGC>AGT p.S491S RECQL5_uc010dgk.2_Silent_p.S464S|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 491 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CTTCATCCCCGCTGCCTCCAG 0.617 NA Other_identified_genes_with_known_or_suspected_DNA_repair_function 15 50 0 0 0.003163 0 0 LAMA1 284217 broad.mit.edu 37 18 7080334 7080334 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr18:7080334G>T uc002knm.2 - 2 278 c.184C>A c.(184-186)CGA>AGA p.R62R LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 62 Laminin N-terminal. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TGTGGGTTTCGGACGGGCCGA 0.552 NA 24 32 3.01185e-09 3.76481e-09 0.003954 1 0 MC2R 4158 broad.mit.edu 37 18 13884841 13884841 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr18:13884841C>A uc002ksp.1 - 2 854 c.677G>T c.(676-678)GGG>GTG p.G226V NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 226 Helical; Name=6; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) GATGAAGACCCCGAGCAGGAT 0.552 Colon(141;1584 1782 35999 48227 48692) NA 25 11 7.87624e-14 1.14744e-13 0.00278 1 0 ASXL3 80816 broad.mit.edu 37 18 31323882 31323882 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr18:31323882C>A uc010dmg.1 + 12 4125 c.4070C>A c.(4069-4071)TCT>TAT p.S1357Y ASXL3_uc002kxq.2_Missense_Mutation_p.S1064Y NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1357 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TCCACTAGCTCTGTCTTGATT 0.468 NA OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 75 64 6.06247e-24 1.04927e-23 0.01441 1 0 TNFRSF11A 8792 broad.mit.edu 37 18 60036389 60036389 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr18:60036389G>T uc002lin.2 + 9 1277 c.1239G>T c.(1237-1239)TGG>TGT p.W413C TNFRSF11A_uc010dpv.2_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 413 Cytoplasmic (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) GGACTGATTGGACTCCCATGT 0.567 NA Paget_Disease_of_Bone 24 18 1.64293e-13 2.35953e-13 0.00333 1 0 MUC16 94025 broad.mit.edu 37 19 9063963 9063963 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:9063963G>T uc002mkp.2 - 3 23687 c.23483C>A c.(23482-23484)TCC>TAC p.S7828Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 7830 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 AGGGGTCAGGGAGGAAGCTAG 0.542 NA 32 60 3.99451e-17 6.19837e-17 0.009535 1 0 MUC16 94025 broad.mit.edu 37 19 9067932 9067932 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:9067932A>T uc002mkp.2 - 3 19718 c.19514T>A c.(19513-19515)GTG>GAG p.V6505E NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6507 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 GGTTTTTTCCACAGAGGGTGG 0.473 NA 6 26 0 0 0.001168 0 0 MUC16 94025 broad.mit.edu 37 19 9088957 9088957 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:9088957C>A uc002mkp.2 - 1 3062 c.2858G>T c.(2857-2859)AGA>ATA p.R953I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 953 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 AAACGTGTCTCTATTGGTCTG 0.473 NA 92 63 1.38319e-45 2.71937e-45 0.01441 1 0 PPAN-P2RY11 692312 broad.mit.edu 37 19 10225118 10225118 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:10225118C>A uc002mna.2 + 13 2089 c.2089C>A c.(2089-2091)CGC>AGC p.R697S PPAN-P2RY11_uc010xla.1_3'UTR|P2RY11_uc002mnc.2_Missense_Mutation_p.R277S NM_001040664 NP_001035754 Q9NQ55 SSF1_HUMAN PPAN-P2RY11 protein Error:Variant_position_missing_in_Q9NQ55_after_alignment RNA splicing nucleolus protein binding ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05) TGCTCGGCGGCGCTGGAGCAC 0.667 NA 35 16 6.70999e-13 9.5019e-13 0.004289 1 0 KEAP1 9817 broad.mit.edu 37 19 10602727 10602727 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:10602727T>A uc002moq.1 - 3 1007 c.851A>T c.(850-852)CAG>CTG p.Q284L KEAP1_uc002mop.1_Missense_Mutation_p.Q2L|KEAP1_uc002mor.1_Missense_Mutation_p.Q284L NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 284 BACK. Q -> L (in a lung adenocarcinoma patient). regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CTTCTGCAGCTGCATCTGCAG 0.612 NA 21 17 0 0 0.012319 0 0 DNM2 1785 broad.mit.edu 37 19 10886572 10886572 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:10886572C>T uc002mps.1 + 4 743 c.579C>T c.(577-579)GTC>GTT p.V193V DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Silent_p.V193V|DNM2_uc002mpv.1_Silent_p.V193V|DNM2_uc002mpu.1_Silent_p.V193V|DNM2_uc010dxl.1_Silent_p.V193V NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 193 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) CCAAGGAAGTCGATCCCCAAG 0.607 NA 4 26 0 0 0.009096 0 0 SLC1A6 6511 broad.mit.edu 37 19 15064949 15064949 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:15064949G>A uc002naa.1 - 7 1370 c.1362C>T c.(1360-1362)ATC>ATT p.I454I SLC1A6_uc010dzu.1_Silent_p.I376I|SLC1A6_uc010xod.1_Silent_p.I390I NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 454 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) CCCCTCACCTGATGGTTGTGA 0.592 NA 29 20 0 0 0.007291 0 0 NOTCH3 4854 broad.mit.edu 37 19 15291560 15291560 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:15291560G>T uc002nan.2 - 19 3150 c.3074C>A c.(3073-3075)CCC>CAC p.P1025H NOTCH3_uc002nao.1_Missense_Mutation_p.P973H NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Notch homolog 3 precursor 1025 Extracellular (Potential).|EGF-like 26. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1) 21 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCATCCAGGGGGACAAAGGCA 0.657 NA 5 8 0.000602214 0.000636806 0.000602 1 0 UNC13A 23025 broad.mit.edu 37 19 17758168 17758168 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:17758168C>A uc002nhd.2 - 17 2214 c.2214G>T c.(2212-2214)GCG>GCT p.A738A NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN unc-13 homolog A 650 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(3) 3 TCTTGGTCACCGCGAAGATCT 0.597 NA 7 12 0.00198382 0.00206541 0.001984 1 0 CRLF1 9244 broad.mit.edu 37 19 18710443 18710443 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:18710443G>T uc010ebt.1 - 2 523 c.329C>A c.(328-330)TCG>TAG p.S110* NM_004750 NP_004741 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 precursor 110 Ig-like C2-type. negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(1) 1 GTTGTCCCCCGACCGCTGCCT 0.672 NA 10 24 1.58986e-06 1.86097e-06 0.008291 1 0 KLHL26 55295 broad.mit.edu 37 19 18778916 18778916 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:18778916G>T uc002njz.1 + 3 736 c.709G>T c.(709-711)GAC>TAC p.D237Y NM_018316 NP_060786 Q53HC5 KLH26_HUMAN kelch-like 26 237 BACK. ovary(1) 1 GCTGCAGCATGAcccggcccg 0.577 NA 9 27 2.74318e-10 3.61885e-10 0.006214 1 0 ZNF429 353088 broad.mit.edu 37 19 21720876 21720876 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:21720876G>T uc002nqd.1 + 4 2158 c.2021G>T c.(2020-2022)GGC>GTC p.G674V ZNF429_uc010ecu.1_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN zinc finger protein 429 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 gaccgtcctggctaacatggt 0.015 NA 14 10 9.31168e-06 1.06532e-05 0.001855 1 0 RYR1 6261 broad.mit.edu 37 19 38949803 38949803 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:38949803G>T uc002oit.2 + 19 2315 c.2185G>T c.(2185-2187)GTG>TTG p.V729L RYR1_uc002oiu.2_Missense_Mutation_p.V729L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 729 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GGCACGCCCAGTGACTTCCCC 0.587 NA 10 14 6.40141e-05 6.96928e-05 0.010729 1 0 TMEM145 284339 broad.mit.edu 37 19 42821933 42821933 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:42821933G>T uc002otk.1 + 12 1025 c.973G>T c.(973-975)GCG>TCG p.A325S NM_173633 NP_775904 Q8NBT3 TM145_HUMAN transmembrane protein 145 325 Helical; (Potential). integral to membrane 0 Prostate(69;0.00682) ACTGCAGGTGGCGGCCTACGT 0.562 NA 28 13 4.22769e-11 5.66959e-11 0.00632 1 0 ZNF285 26974 broad.mit.edu 37 19 44891284 44891284 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:44891284C>A uc002ozd.3 - 4 1210 c.1123G>T c.(1123-1125)GAA>TAA p.E375* ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.E382* NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 375 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 CCACACTCTTCACATTTATAG 0.468 NA 14 15 0.000151284 0.000163387 0.001855 1 0 PLA2G4C 8605 broad.mit.edu 37 19 48558213 48558213 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:48558213C>A uc002phx.2 - 15 1749 c.1351G>T c.(1351-1353)GCC>TCC p.A451S PLA2G4C_uc002phv.2_RNA|PLA2G4C_uc002phw.2_Missense_Mutation_p.A386S|PLA2G4C_uc010elr.2_Missense_Mutation_p.A451S|PLA2G4C_uc010xzd.1_Missense_Mutation_p.A461S NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 451 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) TAGCAGCTGGCGGGGGCCTTG 0.567 NA 24 24 1.85244e-09 2.32993e-09 0.00333 1 0 AP2A1 160 broad.mit.edu 37 19 50296349 50296349 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:50296349G>T uc002ppn.2 + 6 916 c.705G>T c.(703-705)CGG>CGT p.R235R AP2A1_uc010enj.1_RNA|AP2A1_uc002ppo.2_Silent_p.R235R NM_014203 NP_055018 O95782 AP2A1_HUMAN adaptor-related protein complex 2, alpha 1 235 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol protein binding|protein transporter activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157) GCCTGAGCCGGGTGGGTGTGG 0.597 NA 7 3 0.00307968 0.00318995 0.00308 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51628941 51628941 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:51628941G>T uc002pvu.2 + 2 576 c.509G>T c.(508-510)TGT>TTT p.C170F SIGLEC9_uc010yct.1_Missense_Mutation_p.C170F NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 170 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCCTGGGCCTGTGAGCAGGGG 0.652 NA 51 83 5.13769e-22 8.70612e-22 0.01441 1 0 ZNF71 58491 broad.mit.edu 37 19 57133832 57133832 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:57133832G>T uc002qnm.3 + 3 1415 c.1177G>T c.(1177-1179)GGG>TGG p.G393W NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 393 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GCACTTCACGGGGCGCTCGTC 0.632 NA 20 10 2.39187e-15 3.56143e-15 0.008871 1 0 ZSCAN4 201516 broad.mit.edu 37 19 58189585 58189585 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr19:58189585T>A uc002qpu.2 + 5 1311 c.614T>A c.(613-615)GTA>GAA p.V205E NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 205 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) ACTACTCGAGTAAATGAAAAT 0.398 NA 13 10 0 0 0.001855 0 0 APOB 338 broad.mit.edu 37 2 21228767 21228767 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:21228767T>G uc002red.2 - 26 11101 c.10973A>C c.(10972-10974)CAC>CCC p.H3658P NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3658 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGTCAAGGTGTGCCTTTTC 0.433 NA 36 15 0 0 0.003271 0 0 GALNT14 79623 broad.mit.edu 37 2 31189075 31189075 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:31189075G>T uc002rnr.2 - 3 1012 c.393C>A c.(391-393)ATC>ATA p.I131I GALNT14_uc002rnq.2_Silent_p.I111I|GALNT14_uc002rns.2_Silent_p.I136I|GALNT14_uc010ymr.1_Silent_p.I96I|GALNT14_uc010ezo.1_Intron|GALNT14_uc010ezp.1_Silent_p.I102I NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 131 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) CTCACCTGCGGATGGTCCTGA 0.602 NA 19 10 7.45023e-12 1.02981e-11 0.010504 1 0 LTBP1 4052 broad.mit.edu 37 2 33442709 33442709 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:33442709C>A uc002ros.2 + 8 1792 c.1792C>A c.(1792-1794)CCC>ACC p.P598T LTBP1_uc002rot.2_Missense_Mutation_p.P272T|LTBP1_uc002rou.2_Missense_Mutation_p.P272T|LTBP1_uc002rov.2_Missense_Mutation_p.P272T|LTBP1_uc010ymz.1_Missense_Mutation_p.P272T|LTBP1_uc010yna.1_Missense_Mutation_p.P272T NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 598 TB 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CCAGAAATGCCCCAAGAAACC 0.433 NA 25 9 1.26454e-06 1.48446e-06 0.005443 1 0 EIF2AK2 5610 broad.mit.edu 37 2 37349652 37349652 + Nonsense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:37349652G>C uc010ynh.1 - 12 1621 c.1064C>G c.(1063-1065)TCA>TGA p.S355* EIF2AK2_uc010fab.1_Nonsense_Mutation_p.S314*|EIF2AK2_uc010yng.1_Nonsense_Mutation_p.S355*|EIF2AK2_uc010fac.2_Nonsense_Mutation_p.S355*|EIF2AK2_uc010fad.2_Intron NM_002759 NP_002750 P19525 E2AK2_HUMAN eukaryotic translation initiation factor 2-alpha 355 2.|2 X 13 AA approximate repeats.|Protein kinase. evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle cytosol ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity ovary(2)|lung(2)|pancreas(1) 5 all_hematologic(82;0.248) TAGTTACCTTGAACTATTTTT 0.363 NA 10 72 0 0 0.008291 0 0 NRXN1 9378 broad.mit.edu 37 2 50723056 50723056 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:50723056G>T uc010fbq.2 - 15 4654 c.3177C>A c.(3175-3177)AAC>AAA p.N1059K NRXN1_uc002rxb.3_Missense_Mutation_p.N691K|NRXN1_uc002rxe.3_Missense_Mutation_p.N1019K|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_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) TGAGGTCTAAGTTCCTGGCTC 0.478 NA 6 39 8.12818e-05 8.82551e-05 0.001984 1 0 CLEC4F 165530 broad.mit.edu 37 2 71043709 71043709 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:71043709C>G uc002shf.2 - 4 881 c.804G>C c.(802-804)AGG>AGC p.R268S CLEC4F_uc010yqv.1_Missense_Mutation_p.R268S NM_173535 NP_775806 Q8N1N0 CLC4F_HUMAN C-type lectin, superfamily member 13 268 Extracellular (Potential). endocytosis integral to membrane receptor activity|sugar binding ovary(5) 5 GGTTCTGGGTCCTCAAGTCAT 0.423 Colon(107;10 2157 6841 26035) NA 97 41 0 0 0.01441 0 0 ALMS1 7840 broad.mit.edu 37 2 73678721 73678721 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:73678721G>T uc002sje.1 + 10 5181 c.5070G>T c.(5068-5070)CTG>CTT p.L1690L ALMS1_uc002sjf.1_Silent_p.L1646L|ALMS1_uc002sjg.2_Silent_p.L1076L|ALMS1_uc002sjh.1_Silent_p.L1076L NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1688 25.|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 AAGAAGCTCTGAAAGTTCCAC 0.443 NA 78 35 4.75426e-39 9.16892e-39 0.01441 1 0 C2orf78 388960 broad.mit.edu 37 2 74040979 74040979 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:74040979C>A uc002sjr.1 + 2 594 c.473C>A c.(472-474)TCC>TAC p.S158Y NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 158 ovary(2) 2 GCTGTCTCTTCCATGTCTATG 0.448 NA 31 8 8.16721e-17 1.2435e-16 0.010818 1 0 PROM2 150696 broad.mit.edu 37 2 95941743 95941743 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:95941743G>T uc002suh.1 + 3 493 c.360G>T c.(358-360)GTG>GTT p.V120V PROM2_uc002sui.2_Silent_p.V120V|PROM2_uc002suj.2_5'UTR|PROM2_uc002suk.2_Silent_p.V120V|PROM2_uc002sul.2_5'UTR NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 120 Helical; (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 TGCTGCTGGTGCCCACTGCCG 0.701 NA 6 33 0.00116845 0.00122596 0.001168 1 0 ZAP70 7535 broad.mit.edu 37 2 98341688 98341688 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:98341688C>T uc002syd.1 + 4 743 c.536C>T c.(535-537)TCT>TTT p.S179F ZAP70_uc010yvf.1_Missense_Mutation_p.S179F|ZAP70_uc002sye.1_Missense_Mutation_p.S69F NM_001079 NP_001070 P43403 ZAP70_HUMAN zeta-chain associated protein kinase 70kDa 179 SH2 2. immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway cytosol|T cell receptor complex ATP binding|non-membrane spanning protein tyrosine kinase activity lung(4)|upper_aerodigestive_tract(1)|ovary(1) 6 AAACTTTACTCTGGGGCGCAG 0.652 NA 6 109 0 0 0.001168 0 0 CNTNAP5 129684 broad.mit.edu 37 2 124783245 124783245 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:124783245G>T uc002tno.2 + 1 382 c.18G>T c.(16-18)CGG>CGT p.R6R CNTNAP5_uc010flu.2_Silent_p.R6R NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 6 cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTTTACCACGGCTGACCAGCG 0.552 NA 14 53 1.05317e-09 1.33292e-09 0.00245 1 0 NCKAP5 344148 broad.mit.edu 37 2 133483297 133483297 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:133483297G>T uc002ttp.2 - 19 5990 c.5616C>A c.(5614-5616)AGC>AGA p.S1872R NCKAP5_uc002ttq.2_Missense_Mutation_p.S553R NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1872 protein binding 0 TACTGCCACCGCTGGCAGAGT 0.458 NA 6 19 3.59834e-05 3.99267e-05 0.001168 1 0 LCT 3938 broad.mit.edu 37 2 136570190 136570190 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:136570190C>A uc002tuu.1 - 7 2055 c.2044G>T c.(2044-2046)GGT>TGT p.G682C NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 682 Extracellular (Potential).|4 X approximate repeats.|2. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) TGCGACAGACCCAGAAAATCA 0.537 NA 11 53 0.000673444 0.000708428 0.008291 1 0 LCT 3938 broad.mit.edu 37 2 136594342 136594342 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:136594342T>C uc002tuu.1 - 1 409 c.398A>G c.(397-399)CAC>CGC p.H133R NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 133 Extracellular (Potential).|4 X approximate repeats.|1. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GAGGGTCTGGTGGTGCAGGAT 0.597 NA 10 26 0 0 0.010729 0 0 LRP1B 53353 broad.mit.edu 37 2 141272306 141272306 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:141272306C>T uc002tvj.1 - 51 9157 c.8185G>A c.(8185-8187)GCA>ACA p.A2729T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2729 Extracellular (Potential).|LDL-receptor class A 16. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATTTTTGTGCGGAACAAGCA 0.338 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 9 26 0 0 0.004482 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555721 155555721 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:155555721G>C uc002tyv.1 + 1 629 c.434G>C c.(433-435)GGC>GCC p.G145A KCNJ3_uc010zce.1_Missense_Mutation_p.G145A NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 145 Selectivity filter (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) GCCACCATCGGCTATGGCTAC 0.562 NA 17 28 0 0 0.007413 0 0 XIRP2 129446 broad.mit.edu 37 2 168108351 168108351 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:168108351G>T uc002udx.2 + 8 10467 c.10449G>T c.(10447-10449)ACG>ACT p.T3483T XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.T3308T|XIRP2_uc010fpq.2_Silent_p.T3261T|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3308 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TTCAAAAGACGTGGCAAGAGA 0.413 NA 18 35 5.35267e-07 6.3202e-07 0.007413 1 0 ZAK 51776 broad.mit.edu 37 2 174131278 174131278 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:174131278A>G uc002uhz.2 + 20 2403 c.2203A>G c.(2203-2205)AGG>GGG p.R735G uc002uib.2_Intron NM_016653 NP_057737 Q9NYL2 MLTK_HUMAN MLK-related kinase isoform 1 735 activation of JUN kinase activity|activation of MAPKK activity|cell cycle arrest|cell death|cell differentiation|cell proliferation|DNA damage checkpoint|positive regulation of apoptosis|response to radiation cytoplasm|nucleus ATP binding|identical protein binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding lung(3)|stomach(1)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.176) GAGAAGCCCCAGGGACCTCCA 0.542 NA 17 35 0 0 0.008871 0 0 TTN 7273 broad.mit.edu 37 2 179435936 179435936 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:179435936C>G uc010zfg.1 - 275 67443 c.67219G>C c.(67219-67221)GAA>CAA p.E22407Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E16102Q|TTN_uc010zfi.1_Missense_Mutation_p.E16035Q|TTN_uc010zfj.1_Missense_Mutation_p.E15910Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 23334 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) TCAACACCTTCTTCAAGGCCA 0.418 NA 6 102 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179588619 179588619 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:179588619C>A uc010zfg.1 - 70 17859 c.17635G>T c.(17635-17637)GGG>TGG p.G5879W TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G2540W NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6806 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) TCATCAGACCCAGCGACATTA 0.423 NA 16 48 1.15088e-07 1.37494e-07 0.004007 1 0 PARD3B 117583 broad.mit.edu 37 2 205829880 205829880 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:205829880T>G uc002var.1 + 3 435 c.228T>G c.(226-228)ATT>ATG p.I76M PARD3B_uc010fub.1_Missense_Mutation_p.I76M|PARD3B_uc002vao.1_Missense_Mutation_p.I76M|PARD3B_uc002vap.1_Missense_Mutation_p.I76M|PARD3B_uc002vaq.1_Missense_Mutation_p.I76M NM_152526 NP_689739 Q8TEW8 PAR3L_HUMAN par-3 partitioning defective 3 homolog B isoform 76 cell cycle|cell division endomembrane system|tight junction skin(2)|ovary(1)|breast(1) 4 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) TGTAGCTGATTGCTGTGTTTG 0.453 NA 5 14 0 0 0.001168 0 0 VWC2L 402117 broad.mit.edu 37 2 215279259 215279259 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:215279259C>A uc002vet.2 + 2 472 c.342C>A c.(340-342)AAC>AAA p.N114K VWC2L_uc010zjl.1_Missense_Mutation_p.N114K NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 114 VWFC 2. extracellular region 0 AAGTAAAAAACTTCTGTGAAT 0.383 NA 14 7 4.3838e-07 5.19134e-07 0.001855 1 0 XRCC5 7520 broad.mit.edu 37 2 216981433 216981433 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:216981433G>T uc002vfy.2 + 3 327 c.187G>T c.(187-189)GGC>TGC p.G63C XRCC5_uc002vfz.2_5'Flank NM_021141 NP_066964 P13010 XRCC5_HUMAN ATP-dependent DNA helicase II 63 double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding lung(1)|kidney(1) 2 Renal(323;0.0328) Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117) TGGTACAGATGGCACTGACAA 0.418 NA Direct_reversal_of_damage|NHEJ 28 71 2.41591e-17 3.76998e-17 0.004656 1 0 SLC11A1 6556 broad.mit.edu 37 2 219252294 219252294 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:219252294G>T uc002vhv.2 + 7 918 c.578G>T c.(577-579)CGG>CTG p.R193L SLC11A1_uc010fvp.1_Missense_Mutation_p.R193L|SLC11A1_uc010fvq.1_Missense_Mutation_p.R126L|SLC11A1_uc010zkc.1_Missense_Mutation_p.R126L|SLC11A1_uc002vhu.1_5'UTR|SLC11A1_uc002vhw.2_Missense_Mutation_p.R75L|SLC11A1_uc010fvr.2_5'UTR NM_000578 NP_000569 P49279 NRAM1_HUMAN natural resistance-associated macrophage protein 193 Cytoplasmic (Potential). activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity ovary(3)|central_nervous_system(1) 4 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GTAGGGCTGCGGAAGCTGGAA 0.393 NA 54 449 3.40343e-31 6.32288e-31 0.01441 1 0 SLC4A3 6508 broad.mit.edu 37 2 220498124 220498124 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:220498124C>T uc002vmp.3 + 10 1675 c.1406C>T c.(1405-1407)GCT>GTT p.A469V SLC4A3_uc002vmo.3_Missense_Mutation_p.A496V|SLC4A3_uc010fwm.2_Silent_p.L11L|SLC4A3_uc010fwn.1_5'UTR NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 469 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTACCATGGCTGATGACCTG 0.617 NA 8 52 0 0 0.00308 0 0 TM4SF20 79853 broad.mit.edu 37 2 228235652 228235652 + Silent SNP C C A rs138547735 byFrequency TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:228235652C>A uc002vpb.2 - 2 266 c.228G>T c.(226-228)GCG>GCT p.A76A NM_024795 NP_079071 Q53R12 T4S20_HUMAN transmembrane 4 L six family member 20 76 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TGTTGCAGCACGCTCTTTTTC 0.428 NA 86 318 1.2711e-46 2.5112e-46 0.01441 1 0 UGT1A6 54578 broad.mit.edu 37 2 234602162 234602162 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:234602162T>A uc002vuv.3 + 1 651 c.512T>A c.(511-513)TTC>TAC p.F171Y UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Missense_Mutation_p.F171Y NM_001072 NP_001063 P19224 UD16_HUMAN UDP glycosyltransferase 1 family, polypeptide A6 171 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity 0 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) GTGTACCTCTTCAGGGGTTTT 0.498 NA 44 128 0 0 0.01441 0 0 HDAC4 9759 broad.mit.edu 37 2 240011772 240011772 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:240011772C>A uc002vyk.3 - 18 3098 c.2306G>T c.(2305-2307)GGG>GTG p.G769V HDAC4_uc010fyz.1_Missense_Mutation_p.G764V|HDAC4_uc010fyy.2_Missense_Mutation_p.G726V NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 769 Histone deacetylase. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GCGGGCTGCCCCCGCCGAGTG 0.647 NA 9 44 2.74318e-10 3.61885e-10 0.006214 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3684006 3684006 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr20:3684006G>A uc002wja.2 - 5 1066 c.1066C>T c.(1066-1068)CTC>TTC p.L356F SIGLEC1_uc002wiz.3_Missense_Mutation_p.L356F|SIGLEC1_uc002wjc.2_Missense_Mutation_p.L267F NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 356 Extracellular (Potential).|Ig-like C2-type 3. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CTGTAGCGGAGATCACTGGGT 0.577 NA 12 40 0 0 0.010729 0 0 CENPB 1059 broad.mit.edu 37 20 3766048 3766048 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr20:3766048G>A uc002wjk.2 - 1 1290 c.1083C>T c.(1081-1083)CTC>CTT p.L361L CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 361 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 GGGCCTCCGTGAGACCCAGCT 0.662 NA 3 8 0 0 0.004672 0 0 BTBD3 22903 broad.mit.edu 37 20 11904038 11904038 + Missense_Mutation SNP G G T rs150807132 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr20:11904038G>T uc002wnz.2 + 4 1652 c.1293G>T c.(1291-1293)CAG>CAT p.Q431H BTBD3_uc002wny.2_Missense_Mutation_p.Q370H|BTBD3_uc002woa.2_Missense_Mutation_p.Q370H|BTBD3_uc010zrf.1_Missense_Mutation_p.Q280H|BTBD3_uc010zrg.1_Missense_Mutation_p.Q280H|BTBD3_uc010zrh.1_Missense_Mutation_p.Q280H NM_014962 NP_055777 Q9Y2F9 BTBD3_HUMAN BTB/POZ domain containing protein 3 isoform a 431 ovary(2)|central_nervous_system(1) 3 TTAAGCGGCAGGGCGTTGTCC 0.493 NA 31 26 3.80469e-20 6.23847e-20 0.009535 1 0 DEFB116 245930 broad.mit.edu 37 20 29891154 29891154 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr20:29891154T>A uc010ztm.1 - 2 170 c.170A>T c.(169-171)CAA>CTA p.Q57L NM_001037731 NP_001032820 Q30KQ4 DB116_HUMAN beta-defensin 116 precursor 57 defense response to bacterium extracellular region 0 all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) GGTTAAGTATTGGATTTCATA 0.443 NA 161 164 0 0 0.01441 0 0 ZNF831 128611 broad.mit.edu 37 20 57767000 57767000 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr20:57767000C>T uc002yan.2 + 1 926 c.926C>T c.(925-927)GCC>GTC p.A309V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 309 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) TCGCCGACCGCCGGGAAGCCG 0.701 NA 19 21 0 0 0.007413 0 0 TPTE 7179 broad.mit.edu 37 21 10934106 10934106 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr21:10934106C>A uc002yip.1 - 16 1239 c.871G>T c.(871-873)GAT>TAT p.D291Y TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D273Y|TPTE_uc002yir.1_Missense_Mutation_p.D253Y|TPTE_uc010gkv.1_Missense_Mutation_p.D153Y NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 291 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.V291I(1) 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) TGCTTAGGATCGTAAGCTCTT 0.308 NA 40 80 7.63091e-17 1.1751e-16 0.007835 1 0 MORC3 23515 broad.mit.edu 37 21 37711173 37711173 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr21:37711173A>G uc002yvi.2 + 5 638 c.562A>G c.(562-564)ATT>GTT p.I188V NM_015358 NP_056173 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 188 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding ovary(2) 2 ACTTGATGCTATTATAGGCAA 0.428 NA 109 200 0 0 0.01441 0 0 KCNJ6 3763 broad.mit.edu 37 21 39086924 39086924 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr21:39086924G>T uc011aej.1 - 3 589 c.536C>A c.(535-537)TCC>TAC p.S179Y KCNJ6_uc002ywo.2_Missense_Mutation_p.S179Y NM_002240 NP_002231 P48051 IRK6_HUMAN potassium inwardly-rectifying channel J6 179 Helical; Name=M2; (By similarity). synaptic transmission Golgi apparatus|voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 Halothane(DB01159) ATTGACAATGGACCCCAACAC 0.453 Pancreas(48;379 1118 2936 19024 28214) NA 42 91 1.05386e-31 1.97598e-31 0.01441 1 0 UMODL1 89766 broad.mit.edu 37 21 43557548 43557548 + Splice_Site SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr21:43557548G>T uc002zaf.1 + 22 3776 c.3776_splice c.e22-1 p.G1259_splice UMODL1_uc002zad.1_Splice_Site_p.G1187_splice|UMODL1_uc002zae.1_Splice_Site_p.G1315_splice|UMODL1_uc002zag.1_Splice_Site_p.G1387_splice|UMODL1_uc002zal.1_Splice_Site_p.G209_splice|UMODL1_uc010gpa.1_Splice_Site NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 TCCTCCCCGAGGTGAGCCTCC 0.597 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 66 123 2.10328e-26 3.71978e-26 0.01441 1 0 U2AF1 7307 broad.mit.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr21:44524456G>A uc002zda.1 - 2 185 c.101C>T c.(100-102)TCT>TTT p.S34F U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.S34F|U2AF1_uc010gpi.1_Missense_Mutation_p.S34F|U2AF1_uc002zdc.1_Missense_Mutation_p.S34F NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 34 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTGCAACCGAGAGCACCTGTC 0.358 NA 31 55 0 0 0.010818 0 0 KRTAP10-2 386679 broad.mit.edu 37 21 45970944 45970944 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr21:45970944G>C uc002zfi.1 - 1 445 c.398C>G c.(397-399)TCT>TGT p.S133C C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198693 NP_941966 P60368 KR102_HUMAN keratin associated protein 10-2 133 22 X 5 AA repeats of C-C-X(3).|11. keratin filament large_intestine(1) 1 GCAGGAGGAAGAGGCACAGCA 0.617 NA 4 113 0 0 0.009096 0 0 POTEH 23784 broad.mit.edu 37 22 16279254 16279254 + Silent SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr22:16279254T>C uc010gqp.2 - 4 1021 c.969A>G c.(967-969)CAA>CAG p.Q323Q POTEH_uc002zlg.1_RNA|POTEH_uc002zlh.1_Silent_p.Q42Q|POTEH_uc002zlj.1_Silent_p.Q158Q NM_001136213 NP_001129685 Q6S545 POTEH_HUMAN ANKRD26-like family C, member 3 323 ANK 5. skin(1) 1 ATTTCACCACTTGCTGTTTTT 0.323 NA 40 445 0 0 0.01441 0 0 C22orf28 51493 broad.mit.edu 37 22 32792123 32792123 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr22:32792123T>G uc003amm.2 - 8 1059 c.928A>C c.(928-930)ATG>CTG p.M310L C22orf28_uc011ama.1_RNA NM_014306 NP_055121 Q9Y3I0 RTCB_HUMAN hypothetical protein LOC51493 310 cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation cytoplasm|tRNA-splicing ligase complex ATP binding|metal ion binding|RNA ligase (ATP) activity|vinculin binding 0 GCAGCTGCCATTCCCTTCAGA 0.493 NA 63 288 0 0 0.01441 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43195156 43195156 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr22:43195156G>C uc003bdd.2 - 15 1642 c.1422C>G c.(1420-1422)AGC>AGG p.S474R ARFGAP3_uc010gzf.2_Missense_Mutation_p.S430R NM_014570 NP_055385 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating 474 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(1) 1 CACTGGACAGGCTGTAGTTCC 0.577 GBM(58;544 1030 21460 27159 48838) NA 11 19 0 0 0.013537 0 0 KCNH8 131096 broad.mit.edu 37 3 19554470 19554470 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:19554470C>T uc003cbk.1 + 13 2283 c.2088C>T c.(2086-2088)CCC>CCT p.P696P KCNH8_uc010hex.1_Silent_p.P157P NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 696 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AGTCAGAGCCCAAGGGAAATG 0.333 NSCLC(124;1625 1765 8018 24930 42026) NA 8 51 0 0 0.006214 0 0 ZNF385D 79750 broad.mit.edu 37 3 21706480 21706480 + Silent SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:21706480A>T uc003cce.2 - 2 471 c.63T>A c.(61-63)CGT>CGA p.R21R ZNF385D_uc010hfb.1_Intron NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 21 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 GGGCTGGTGGACGGACAAGGG 0.517 NA 17 32 0 0 0.006122 0 0 ARPP21 10777 broad.mit.edu 37 3 35778767 35778767 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:35778767G>T uc003cgb.2 + 16 1821 c.1557G>T c.(1555-1557)CAG>CAT p.Q519H ARPP21_uc003cga.2_Missense_Mutation_p.Q465H|ARPP21_uc011axy.1_Missense_Mutation_p.Q485H|ARPP21_uc003cgf.2_Missense_Mutation_p.Q320H|ARPP21_uc003cgg.2_Missense_Mutation_p.Q7H NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 519 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 AGTCCCAACAGCAGCCACCAC 0.647 NA 27 32 9.86323e-18 1.5789e-17 0.003954 1 0 SCN10A 6336 broad.mit.edu 37 3 38781172 38781172 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:38781172G>T uc003ciq.2 - 14 2114 c.2114C>A c.(2113-2115)ACC>AAC p.T705N NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 705 Helical; Name=S2 of repeat II; (Potential).|II. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) AAAAAATATGGTAAAGACCTA 0.383 NA 14 39 6.81908e-15 1.00793e-14 0.00245 1 0 TGM4 7047 broad.mit.edu 37 3 44952602 44952603 + Missense_Mutation DNP CC CC AA TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:44952602_44952603CC>AA uc003coc.3 + 12 1832_1833 c.1759_1760CC>AA c.(1759-1761)CCT>AAT p.P587N NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 587 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTTCCAGTACCCTGAGTTCTCT 0.49 NA 26 52 0 0 0.004672 0 0 UBA7 7318 broad.mit.edu 37 3 49848422 49848422 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:49848422C>A uc003cxr.2 - 10 1396 c.1225G>T c.(1225-1227)GCC>TCC p.A409S NM_003335 NP_003326 P41226 UBA7_HUMAN ubiquitin-like modifier activating enzyme 7 409 2 approximate repeats. ISG15-protein conjugation|negative regulation of type I interferon production cytosol ATP binding|ISG15 activating enzyme activity|ligase activity ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTCACCAGGGCACAGTCCTCA 0.537 NA 10 24 0.00136819 0.00143183 0.013537 1 0 ERC2 26059 broad.mit.edu 37 3 55922538 55922538 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:55922538C>A uc003dhr.1 - 14 2699 c.2443G>T c.(2443-2445)GAA>TAA p.E815* ERC2_uc003dhq.1_RNA|ERC2_uc003dht.1_Nonsense_Mutation_p.E294* NM_015576 NP_056391 O15083 ERC2_HUMAN cytomatrix protein p110 815 Potential. cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GCATCCAGTTCCTGTCTGGTC 0.512 NA 79 151 2.84431e-33 5.35788e-33 0.01441 1 0 PROK2 60675 broad.mit.edu 37 3 71830726 71830726 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:71830726G>T uc003dpa.3 - 2 268 c.114C>A c.(112-114)TCC>TCA p.S38S PROK2_uc003doz.3_Silent_p.S38S NM_001126128 NP_001119600 Q9HC23 PROK2_HUMAN prokineticin 2 isoform a precursor 38 activation of MAPK activity|angiogenesis|anti-apoptosis|cell proliferation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|neuropeptide signaling pathway|positive regulation of smooth muscle contraction|sensory perception of pain|spermatogenesis extracellular region G-protein-coupled receptor binding 0 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.89e-05)|Epithelial(33;0.000173)|LUSC - Lung squamous cell carcinoma(21;0.00168)|Lung(16;0.00306) CACCACATTGGGAGTCCTTGT 0.443 NA 17 54 3.32936e-07 3.95422e-07 0.006122 1 0 GABRR3 200959 broad.mit.edu 37 3 97731232 97731232 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:97731232G>A uc011bgr.1 - 4 486 c.486C>T c.(484-486)ATC>ATT p.I162I NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 162 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 CGCGCAGCATGATATTCTCCA 0.453 NA 9 22 0 0 0.006214 0 0 GPR15 2838 broad.mit.edu 37 3 98251936 98251936 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:98251936G>T uc011bgy.1 + 1 1059 c.1059G>T c.(1057-1059)AGG>AGT p.R353S NM_005290 NP_005281 P49685 GPR15_HUMAN G protein-coupled receptor 15 353 Cytoplasmic (Potential). integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled ovary(1) 1 Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255) Lung(72;0.246) TTGCCAGGAGGAGGAAGAGGT 0.438 NA 12 56 6.40141e-05 6.96928e-05 0.010729 1 0 MYH15 22989 broad.mit.edu 37 3 108110731 108110731 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:108110731G>A uc003dxa.1 - 38 5423 c.5366C>T c.(5365-5367)GCC>GTC p.A1789V NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1789 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TTCCAAGTGGGCAATGGTGTC 0.443 NA 16 168 0 0 0.00499 0 0 CPNE4 131034 broad.mit.edu 37 3 131254166 131254166 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:131254166G>A uc003eok.2 - 16 1982 c.1547C>T c.(1546-1548)CCA>CTA p.P516L CPNE4_uc011blq.1_Missense_Mutation_p.P534L|CPNE4_uc003eol.2_Missense_Mutation_p.P534L|CPNE4_uc003eom.2_Missense_Mutation_p.P516L|CPNE4_uc003eoj.2_Missense_Mutation_p.P67L NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 516 upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CAGGGCAGCTGGAGATGCCTG 0.453 NA 17 45 0 0 0.00499 0 0 KY 339855 broad.mit.edu 37 3 134323159 134323159 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:134323159G>C uc010hty.2 - 11 1310 c.1248C>G c.(1246-1248)ATC>ATG p.I416M KY_uc011blw.1_3'UTR|KY_uc011blx.1_Missense_Mutation_p.I395M NM_178554 NP_848649 Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 416 cytoskeleton|Z disc peptidase activity ovary(2) 2 CCTTGGCAAAGATCTGCAGCT 0.537 NA 21 48 0 0 0.00278 0 0 CP 1356 broad.mit.edu 37 3 148927062 148927062 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:148927062G>T uc003ewy.3 - 4 970 c.717C>A c.(715-717)TAC>TAA p.Y239* CP_uc011bnr.1_RNA|CP_uc003ewx.3_Nonsense_Mutation_p.Y20*|CP_uc003ewz.2_Nonsense_Mutation_p.Y239*|CP_uc010hvf.1_5'Flank NM_000096 NP_000087 P00450 CERU_HUMAN ceruloplasmin precursor 239 F5/8 type A 1.|Plastocyanin-like 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) GTTCTGAGCAGTAGGTTTTAA 0.348 NA 18 64 5.01169e-05 5.51559e-05 0.00499 1 0 SLITRK3 22865 broad.mit.edu 37 3 164907671 164907671 + Silent SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:164907671A>T uc003fej.3 - 2 1392 c.948T>A c.(946-948)TCT>TCA p.S316S SLITRK3_uc003fek.2_Silent_p.S316S NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 316 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TAAAATGAACAGAGGATAGCA 0.473 NA HNSCC(40;0.11) 50 108 0 0 0.01441 0 0 ZBBX 79740 broad.mit.edu 37 3 167016239 167016239 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:167016239T>A uc003fep.2 - 18 2056 c.1733A>T c.(1732-1734)CAA>CTA p.Q578L ZBBX_uc011bpc.1_Missense_Mutation_p.Q578L|ZBBX_uc003feq.2_Missense_Mutation_p.Q549L NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 578 intracellular zinc ion binding p.Q578fs*0(1) ovary(2) 2 GGCTATTTCTTGTAACAACTA 0.284 NA 6 76 0 0 0.001168 0 0 LRRC31 79782 broad.mit.edu 37 3 169574170 169574170 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:169574170C>T uc003fgc.1 - 5 854 c.777G>A c.(775-777)CTG>CTA p.L259L LRRC31_uc010hwp.1_Silent_p.L203L NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 259 LRR 2. ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) AATGTAACTTCAGTACTTTCA 0.323 NA 20 97 0 0 0.012319 0 0 ADIPOQ 9370 broad.mit.edu 37 3 186570891 186570891 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:186570891G>T uc003fra.2 + 2 128 c.44G>T c.(43-45)GGT>GTT p.G15V ADIPOQ_uc010hyy.2_Missense_Mutation_p.G15V NM_004797 NP_004788 Q15848 ADIPO_HUMAN adiponectin precursor 15 brown fat cell differentiation|cellular response to drug|cellular response to insulin stimulus|detection of oxidative stress|fatty acid beta-oxidation|generation of precursor metabolites and energy|glucose homeostasis|glucose metabolic process|low-density lipoprotein particle clearance|negative regulation of blood pressure|negative regulation of DNA biosynthetic process|negative regulation of ERK1 and ERK2 cascade|negative regulation of eukaryotic cell surface binding|negative regulation of fat cell differentiation|negative regulation of gluconeogenesis|negative regulation of granulocyte differentiation|negative regulation of heterotypic cell-cell adhesion|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of intracellular protein transport|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|negative regulation of macrophage differentiation|negative regulation of MAP kinase activity|negative regulation of phagocytosis|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein autophosphorylation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of synaptic transmission|negative regulation of transcription, DNA-dependent|negative regulation of tumor necrosis factor production|negative regulation of tumor necrosis factor-mediated signaling pathway|positive regulation of cAMP-dependent protein kinase activity|positive regulation of cholesterol efflux|positive regulation of fatty acid metabolic process|positive regulation of glucose import|positive regulation of glycogen (starch) synthase activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of metanephric glomerular visceral epithelial cell development|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myeloid cell apoptosis|positive regulation of protein kinase A signaling cascade|positive regulation of renal albumin absorption|protein homooligomerization|protein localization in plasma membrane|response to glucose stimulus|response to tumor necrosis factor collagen|endoplasmic reticulum|extracellular space cytokine activity|eukaryotic cell surface binding|hormone activity|protein homodimerization activity ovary(1) 1 all_cancers(143;1.2e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.47e-19) GBM - Glioblastoma multiforme(93;0.0776) GCTCTGCCCGGTCATGACCAG 0.617 NA 24 46 8.24728e-16 1.24169e-15 0.004656 1 0 ATP13A5 344905 broad.mit.edu 37 3 193039469 193039469 + Splice_Site SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:193039469C>G uc011bsq.1 - 16 1915 c.1915_splice c.e16+1 p.V639_splice NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 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) AGTGTTAGTACCTGTTTCAGA 0.303 NA 4 84 0 0 0.000602 0 0 TECRL 253017 broad.mit.edu 37 4 65170927 65170927 + Silent SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:65170927A>G uc003hcv.2 - 7 796 c.687T>C c.(685-687)TCT>TCC p.S229S TECRL_uc003hcw.2_Silent_p.S229S NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 229 Helical; (Potential). lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 AGGCAATCCAAGAAGTAAATC 0.299 NA 25 61 0 0 0.004656 0 0 UGT2B15 7366 broad.mit.edu 37 4 69513061 69513061 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:69513061C>A uc011cal.1 - 6 1392 c.1354G>T c.(1354-1356)GAC>TAC p.D452Y NM_001076 NP_001067 P54855 UDB15_HUMAN UDP glycosyltransferase 2B15 precursor 452 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity 0 ATTGGTTGGTCATGATGAATT 0.388 NA 31 86 3.62531e-18 5.8496e-18 0.004289 1 0 UGT2B4 7363 broad.mit.edu 37 4 70361499 70361499 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:70361499C>A uc003hek.3 - 1 128 c.81G>T c.(79-81)CTG>CTT p.L27L UGT2B4_uc011cap.1_Intron|UGT2B4_uc003hel.3_Silent_p.L27L NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 27 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 TGGGCCACACCAGCACCTTTC 0.458 NA 40 106 2.5098e-30 4.62032e-30 0.004878 1 0 G3BP2 9908 broad.mit.edu 37 4 76582913 76582913 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:76582913T>C uc003hir.2 - 4 344 c.179A>G c.(178-180)GAT>GGT p.D60G G3BP2_uc003his.2_Missense_Mutation_p.D60G|G3BP2_uc003hit.2_Missense_Mutation_p.D60G NM_012297 NP_036429 Q9UN86 G3BP2_HUMAN Ras-GTPase activating protein SH3 domain-binding 60 NTF2. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding breast(2)|central_nervous_system(1) 3 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) GTGGTGTATATCCTTTATTAG 0.373 NA 46 89 0 0 0.010771 0 0 USO1 8615 broad.mit.edu 37 4 76726398 76726398 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:76726398G>T uc003hiu.2 + 18 2406 c.2231G>T c.(2230-2232)CGT>CTT p.R744L USO1_uc003hiv.2_Missense_Mutation_p.R586L|USO1_uc003hiw.2_Missense_Mutation_p.R579L NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 744 Potential. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GAATTAAAACGTAATCAGGAA 0.363 NA 14 13 9.31168e-06 1.06532e-05 0.001855 1 0 MEPE 56955 broad.mit.edu 37 4 88767549 88767549 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:88767549G>T uc003hqy.2 + 4 1568 c.1529G>T c.(1528-1530)AGT>ATT p.S510I MEPE_uc010ikn.2_Missense_Mutation_p.S397I NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 510 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGGGATGACAGTAGTGAGTCA 0.517 NA 49 123 9.59835e-30 1.75105e-29 0.01441 1 0 UNC5C 8633 broad.mit.edu 37 4 96091427 96091427 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:96091427G>T uc003htp.1 - 15 2662 c.2508C>A c.(2506-2508)GTC>GTA p.V836V uc003hto.2_5'Flank NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 836 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TGGGCCCCGTGACCGTGGTGA 0.577 NA 58 144 2.2129e-31 4.13006e-31 0.01441 1 0 ANK2 287 broad.mit.edu 37 4 114275528 114275528 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:114275528C>A uc003ibe.3 + 38 5854 c.5754C>A c.(5752-5754)CCC>CCA p.P1918P ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_5'Flank|ANK2_uc011cgb.1_Silent_p.P1933P NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1885 Repeat-rich region.|Repeat A. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CTGTATCGCCCTCCGGGAGGA 0.507 NA 17 22 3.45872e-05 3.86956e-05 0.004007 1 0 FAT4 79633 broad.mit.edu 37 4 126372736 126372736 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:126372736G>T uc003ifj.3 + 9 10565 c.10565G>T c.(10564-10566)CGG>CTG p.R3522L FAT4_uc011cgp.1_Missense_Mutation_p.R1820L|FAT4_uc003ifi.1_Missense_Mutation_p.R1000L NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 3522 Cadherin 34.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GAAAACAAACGGCCAGGCACT 0.488 NA 37 70 2.75727e-19 4.48472e-19 0.004878 1 0 INPP4B 8821 broad.mit.edu 37 4 143045795 143045795 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:143045795G>T uc003iix.3 - 20 2434 c.1839C>A c.(1837-1839)AGC>AGA p.S613R INPP4B_uc003iiw.3_Missense_Mutation_p.S613R|INPP4B_uc011chm.1_RNA|INPP4B_uc011chn.1_Missense_Mutation_p.S428R|INPP4B_uc011cho.1_RNA|INPP4B_uc011chp.1_Missense_Mutation_p.S484R NM_003866 NP_003857 O15327 INP4B_HUMAN inositol polyphosphate-4-phosphatase, type II, 613 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity ovary(1)|lung(1) 2 all_hematologic(180;0.158) ACTGGGGCAAGCTGTACGCAA 0.498 NA 20 24 0.000132079 0.000143027 0.008871 1 0 MAB21L2 10586 broad.mit.edu 37 4 151504265 151504265 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:151504265C>A uc003ilw.2 + 1 1189 c.84C>A c.(82-84)GCC>GCA p.A28A LRBA_uc003ils.3_5'Flank|LRBA_uc003ilt.3_Intron|LRBA_uc003ilu.3_Intron|LRBA_uc010ipj.2_Intron NM_006439 NP_006430 Q9Y586 MB212_HUMAN mab-21-like protein 2 28 nervous system development nucleus ovary(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.159) CGGCCATCGCCAAAACCATCC 0.592 NA 5 18 0.000602214 0.000636806 0.000602 1 0 VEGFC 7424 broad.mit.edu 37 4 177632762 177632762 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:177632762C>A uc003ius.1 - 4 1025 c.595G>T c.(595-597)GTA>TTA p.V199L NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 199 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) CTGATTGTTACTGGTTTGGGG 0.383 NA 39 74 2.59497e-14 3.82168e-14 0.007835 1 0 SORBS2 8470 broad.mit.edu 37 4 186544384 186544384 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:186544384C>A uc003iyl.2 - 13 3045 c.2187G>T c.(2185-2187)GAG>GAT p.E729D SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.E829D|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.E633D|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.E843D|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 729 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGTCCAGAGCCTCAAACACAG 0.458 Esophageal Squamous(153;41 2433 9491 36028) NA 72 221 4.66136e-34 8.82174e-34 0.01441 1 0 F11 2160 broad.mit.edu 37 4 187197457 187197457 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:187197457C>A uc003iza.1 + 7 1001 c.668C>A c.(667-669)GCT>GAT p.A223D NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 223 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) GCTCCCGATGCTTTTGTCTGT 0.473 NA 18 50 1.15919e-05 1.31137e-05 0.008871 1 0 TRIML1 339976 broad.mit.edu 37 4 189068134 189068134 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr4:189068134G>T uc003izm.1 + 6 1130 c.1015G>T c.(1015-1017)GGG>TGG p.G339W TRIML1_uc003izn.1_Missense_Mutation_p.G63W NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 339 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) CTTCACCAGTGGGAGACACTA 0.552 Melanoma(31;213 1036 16579 23968 32372) NA 23 47 5.26018e-13 7.50131e-13 0.012319 1 0 FASTKD3 79072 broad.mit.edu 37 5 7866830 7866830 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:7866830G>A uc003jeb.2 - 2 1504 c.1367C>T c.(1366-1368)TCA>TTA p.S456L FASTKD3_uc011cmp.1_Missense_Mutation_p.S158L|FASTKD3_uc003jec.2_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jee.3_5'Flank|MTRR_uc003jed.2_5'Flank|MTRR_uc003jef.3_5'Flank|MTRR_uc003jeg.3_5'Flank|MTRR_uc010ito.2_5'Flank NM_024091 NP_076996 Q14CZ7 FAKD3_HUMAN FAST kinase domains 3 456 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity ovary(2)|breast(1)|pancreas(1) 4 TTCATTAAGTGAACATGAATG 0.368 NA 13 182 0 0 0.013537 0 0 CTNND2 1501 broad.mit.edu 37 5 11364842 11364842 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:11364842C>T uc003jfa.1 - 8 1483 c.1338G>A c.(1336-1338)CCG>CCA p.P446P CTNND2_uc010itt.2_Silent_p.P355P|CTNND2_uc011cmy.1_Silent_p.P109P|CTNND2_uc011cmz.1_Silent_p.P13P|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Silent_p.P13P NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 446 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 TGTGTGCTGGCGGCAGAGGGT 0.617 NA 4 43 0 0 0.001168 0 0 IL7R 3575 broad.mit.edu 37 5 35876392 35876392 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:35876392A>T uc003jjs.2 + 8 1273 c.1184A>T c.(1183-1185)AAG>ATG p.K395M IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 395 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) GAGAGTGGCAAGAATGGGCCT 0.542 NA 6 75 0 0 0.001984 0 0 C9 735 broad.mit.edu 37 5 39306769 39306769 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:39306769C>T uc003jlv.3 - 9 1455 c.1366G>A c.(1366-1368)GTC>ATC p.V456I NM_001737 NP_001728 P02748 CO9_HUMAN complement component 9 precursor 456 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) GCCCAGTTGACAAAGTCAGTC 0.363 NA 26 107 0 0 0.008361 0 0 PTGER4 5734 broad.mit.edu 37 5 40681206 40681206 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:40681206G>T uc003jlz.2 + 2 703 c.111G>T c.(109-111)GTG>GTT p.V37V NM_000958 NP_000949 P35408 PE2R4_HUMAN prostaglandin E receptor 4, subtype EP4 37 Helical; Name=1; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger|immune response integral to membrane|plasma membrane prostaglandin E receptor activity lung(2) 2 GCAACCTGGTGGCCATCGTGG 0.622 NA OREG0016588 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 115 2.23348e-06 2.59931e-06 0.004007 1 0 ELOVL7 79993 broad.mit.edu 37 5 60067911 60067911 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:60067911A>T uc003jsi.3 - 4 274 c.74T>A c.(73-75)GTT>GAT p.V25D ELOVL7_uc011cqo.1_Translation_Start_Site|ELOVL7_uc010iwk.2_Missense_Mutation_p.V25D|ELOVL7_uc003jsj.3_Missense_Mutation_p.V12D NM_024930 NP_079206 A1L3X0 ELOV7_HUMAN elongation of very long chain fatty acids-like 25 fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481) CCAATCTTCAACTCTTGGATC 0.438 NA 6 22 0 0 0.00308 0 0 CD180 4064 broad.mit.edu 37 5 66492422 66492422 + Silent SNP G G T rs146337741 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:66492422G>T uc003juy.2 - 1 196 c.48C>A c.(46-48)GCC>GCA p.A16A NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 16 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) CTTTACAGCCGGCAGAAAACA 0.448 NA 108 59 1.37938e-74 2.76558e-74 0.01441 1 0 CENPH 64946 broad.mit.edu 37 5 68491566 68491566 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:68491566G>C uc003jvp.2 + 4 349 c.262G>C c.(262-264)GAA>CAA p.E88Q CENPH_uc010ixc.2_Missense_Mutation_p.E88Q NM_022909 NP_075060 Q9H3R5 CENPH_HUMAN centromere protein H 88 Potential. cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding large_intestine(1) 1 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) CCTGGAAAATGAAATTGAAGA 0.274 NA 14 18 0 0 0.004007 0 0 IQGAP2 10788 broad.mit.edu 37 5 75950817 75950817 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:75950817A>G uc003kek.2 + 20 2531 c.2309A>G c.(2308-2310)TAC>TGC p.Y770C IQGAP2_uc010izv.2_Missense_Mutation_p.Y323C|IQGAP2_uc011csv.1_Missense_Mutation_p.Y266C|IQGAP2_uc003kel.2_Missense_Mutation_p.Y266C NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 770 IQ 3. small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) AGAGATGACTACAAAACATTG 0.393 NA 47 22 0 0 0.01441 0 0 TTC37 9652 broad.mit.edu 37 5 94876421 94876421 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:94876421C>G uc003klb.2 - 8 786 c.516G>C c.(514-516)GAG>GAC p.E172D TTC37_uc010jbf.1_Missense_Mutation_p.E124D NM_014639 NP_055454 Q6PGP7 TTC37_HUMAN tetratricopeptide repeat domain 37 172 binding ovary(3)|pancreas(1) 4 TATTCTGGTCCTCTGTACTTT 0.353 NA 33 37 0 0 0.013726 0 0 MCC 4163 broad.mit.edu 37 5 112720711 112720711 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:112720711C>A uc003kql.3 - 2 785 c.369G>T c.(367-369)CTG>CTT p.L123L MCC_uc003kqk.3_RNA NM_001085377 NP_001078846 P23508 CRCM_HUMAN mutated in colorectal cancers isoform 1 Error:Variant_position_missing_in_P23508_after_alignment negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198) OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766) TTCTATCCCTCAGCTTCTTTG 0.478 NA 33 28 4.74835e-14 6.94254e-14 0.010818 1 0 COMMD10 51397 broad.mit.edu 37 5 115469791 115469791 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:115469791C>A uc003krt.1 + 5 449 c.426C>A c.(424-426)AAC>AAA p.N142K NM_016144 NP_057228 Q9Y6G5 COMDA_HUMAN COMM domain containing 10 142 COMM. protein binding ovary(1) 1 all_cancers(142;0.0834)|all_epithelial(76;0.00314)|Prostate(80;0.0102)|Ovarian(225;0.232) OV - Ovarian serous cystadenocarcinoma(64;4.3e-07)|Epithelial(69;8.06e-07)|all cancers(49;4.06e-05) GGCAGCTTAACCTTCAGATGG 0.413 NA 7 18 5.18039e-06 5.99445e-06 0.00308 1 0 ADAMTS19 171019 broad.mit.edu 37 5 128994400 128994400 + Nonsense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:128994400A>T uc003kvb.1 + 15 2377 c.2377A>T c.(2377-2379)AAA>TAA p.K793* ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 793 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CAAGATCATTAAAGGGGATTT 0.343 NA 40 74 0 0 0.00623 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711144 140711144 + Missense_Mutation SNP C C G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:140711144C>G uc003lji.1 + 1 893 c.893C>G c.(892-894)ACA>AGA p.T298R PCDHGA1_uc011dan.1_Missense_Mutation_p.T298R NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 298 Cadherin 3.|Extracellular (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) GATTCTTACACAGGAGAAATA 0.423 NA 4 47 0 0 0.009096 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720142 140720142 + Missense_Mutation SNP G G T rs116787237 byFrequency TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:140720142G>T uc003ljk.1 + 1 1789 c.1604G>T c.(1603-1605)CGG>CTG p.R535L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Missense_Mutation_p.R535L NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 535 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGATAGCGCGGGACAGCGGG 0.537 NA 37 48 8.69298e-16 1.30395e-15 0.006999 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140724495 140724495 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:140724495G>A uc003ljm.1 + 1 895 c.895G>A c.(895-897)GGA>AGA p.G299R PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.G59R|PCDHGA3_uc011dap.1_Missense_Mutation_p.G299R NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 299 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) CTCAGTGAGTGGAGAAGTATC 0.388 NA 16 11 0 0 0.004007 0 0 SLC36A2 153201 broad.mit.edu 37 5 150696494 150696494 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:150696494G>T uc003lty.2 - 10 1466 c.1336C>A c.(1336-1338)CTG>ATG p.L446M GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.L248M NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 446 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGCTGATCAGGGCGTCCTTG 0.612 NA 18 9 2.35188e-11 3.19635e-11 0.006122 1 0 ITK 3702 broad.mit.edu 37 5 156668716 156668716 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:156668716C>A uc003lwo.1 + 11 1128 c.1046C>A c.(1045-1047)GCA>GAA p.A349E NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 349 cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.A349S(1) lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCAGTTACAGCAGGGCTGAGA 0.498 Esophageal Squamous(70;1378 1469 8785 19883) NA T SYK peripheral T-cell lymphoma 18 14 6.94344e-10 8.89903e-10 0.006122 1 0 STK10 6793 broad.mit.edu 37 5 171533719 171533719 + Silent SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr5:171533719G>C uc003mbo.1 - 6 993 c.693C>G c.(691-693)GCC>GCG p.A231A NM_005990 NP_005981 O94804 STK10_HUMAN serine/threonine kinase 10 231 Protein kinase. ATP binding|protein serine/threonine kinase activity ovary(3)|lung(2)|testis(1)|breast(1)|pancreas(1) 8 Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094) Medulloblastoma(196;0.00868)|all_neural(177;0.026) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCTCGATCTGGGCCATCTCAA 0.607 NA OREG0017039 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 38 0 0 0.006214 0 0 C6orf114 85411 broad.mit.edu 37 6 13470384 13470384 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:13470384G>C uc003nav.2 - 2 652 c.129C>G c.(127-129)ATC>ATG p.I43M GFOD1_uc003nas.1_Intron|GFOD1_uc003nat.1_Intron|C6orf114_uc003nau.2_RNA NM_033069 NP_149060 hypothetical protein LOC85411 0 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0504)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.147) TGTAGCCAGTGATGTCCCACT 0.448 NA 15 40 0 0 0.00499 0 0 DHX16 8449 broad.mit.edu 37 6 30633333 30633333 + Nonsense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:30633333C>A uc003nqz.2 - 5 1056 c.844G>T c.(844-846)GAG>TAG p.E282* DHX16_uc011dmo.1_Nonsense_Mutation_p.E222* NM_003587 NP_003578 O60231 DHX16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 16 282 mRNA processing|RNA splicing nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(2)|kidney(2) 4 GCCCGGTACTCCCGGGCGAGA 0.627 NA 32 41 2.46105e-21 4.10175e-21 0.010818 1 0 VARS 7407 broad.mit.edu 37 6 31749539 31749539 + Splice_Site SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:31749539C>A uc003nxe.2 - 20 2771 c.2348_splice c.e20-1 p.D783_splice VARS_uc003nxf.1_5'Flank|VARS_uc011doi.1_Intron NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) ACATCCTCATCTGAGAGAGGC 0.602 NA 39 69 1.30998e-17 2.08056e-17 0.005524 1 0 DNAH8 1769 broad.mit.edu 37 6 38891908 38891908 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:38891908T>G uc003ooe.1 + 71 10881 c.10281T>G c.(10279-10281)AAT>AAG p.N3427K 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 AAAACCTGAATCTTATTTCAA 0.343 NA 30 70 0 0 0.008361 0 0 DAAM2 23500 broad.mit.edu 37 6 39835296 39835296 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:39835296C>T uc003oow.2 + 6 595 c.439C>T c.(439-441)CGC>TGC p.R147C DAAM2_uc010jxc.2_Missense_Mutation_p.R147C|DAAM2_uc003oox.2_Missense_Mutation_p.R147C NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 147 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) GTTTGTGACCCGCTTCATTGA 0.478 NA 5 112 0 0 0.000602 0 0 TRERF1 55809 broad.mit.edu 37 6 42236542 42236542 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:42236542G>T uc003osd.2 - 5 1350 c.787C>A c.(787-789)CAG>AAG p.Q263K TRERF1_uc011duq.1_Missense_Mutation_p.Q263K|TRERF1_uc003osb.2_Missense_Mutation_p.Q102K|TRERF1_uc003osc.2_Missense_Mutation_p.Q102K|TRERF1_uc003ose.2_Missense_Mutation_p.Q263K NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 263 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TGCTGCATCTGTTGCATGTGC 0.567 NA 23 100 1.22574e-08 1.51812e-08 0.014323 1 0 CRIP3 401262 broad.mit.edu 37 6 43276112 43276112 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:43276112G>C uc010jyn.1 - 2 79 c.79C>G c.(79-81)CGC>GGC p.R27G CRIP3_uc003ouu.1_Missense_Mutation_p.R27G NM_206922 NP_996805 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 27 LIM zinc-binding 1. cytoplasm zinc ion binding skin(1) 1 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) AGGCAGAAGCGGTGCCAGTTC 0.607 NA 5 49 0 0 0.000602 0 0 MEP1A 4224 broad.mit.edu 37 6 46806780 46806780 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:46806780C>A uc010jzh.1 + 14 2190 c.2148C>A c.(2146-2148)GGC>GGA p.G716G MEP1A_uc011dwg.1_Silent_p.G438G|MEP1A_uc011dwh.1_Silent_p.G744G|MEP1A_uc011dwi.1_Silent_p.G616G NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 716 Helical; (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) AGGTGCACGGCAGTGTCCTGG 0.577 NA 27 140 1.75199e-13 2.50726e-13 0.007291 1 0 PGK2 5232 broad.mit.edu 37 6 49754615 49754615 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:49754615G>A uc003ozu.2 - 1 393 c.286C>T c.(286-288)CTG>TTG p.L96L NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 96 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) CAGTCCTTCAGGAACAGAACA 0.522 NA 45 66 0 0 0.013114 0 0 EYS 346007 broad.mit.edu 37 6 66205157 66205157 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:66205157G>T uc011dxu.1 - 4 685 c.147C>A c.(145-147)ATC>ATA p.I49I EYS_uc003peq.2_Silent_p.I49I|EYS_uc003per.1_Silent_p.I49I|EYS_uc010kaj.1_RNA NM_001142800 NP_001136272 Q5T1H1 EYS_HUMAN eyes shut homolog isoform 1 49 response to stimulus|visual perception extracellular region calcium ion binding lung(4)|ovary(1)|skin(1) 6 AGTCCAAGCAGATGTTTTCTG 0.403 NA 23 126 3.5997e-14 5.28217e-14 0.014323 1 0 GJA10 84694 broad.mit.edu 37 6 90605636 90605636 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:90605636G>A uc011eaa.1 + 1 1449 c.1449G>A c.(1447-1449)CAG>CAA p.Q483Q NM_032602 NP_115991 Q969M2 CXA10_HUMAN gap junction protein, alpha 10 483 Cytoplasmic (Potential). synaptic transmission connexon complex|integral to membrane gap junction channel activity 0 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) TGGTAAGACAGGCAGCCCTAC 0.478 NA 18 52 0 0 0.008871 0 0 FBXL4 26235 broad.mit.edu 37 6 99374630 99374630 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:99374630C>A uc003ppf.1 - 3 593 c.235G>T c.(235-237)GCT>TCT p.A79S FBXL4_uc003ppg.1_Missense_Mutation_p.A79S|FBXL4_uc003pph.1_5'UTR NM_012160 NP_036292 Q9UKA2 FBXL4_HUMAN F-box and leucine-rich repeat protein 4 79 ubiquitin-dependent protein catabolic process cytoplasm|nucleus|ubiquitin ligase complex skin(2) 2 all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197) BRCA - Breast invasive adenocarcinoma(108;0.0413) GGTACACCAGCCAAATTCCAC 0.438 NA 19 62 1.01871e-10 1.36165e-10 0.008871 1 0 SLC22A16 85413 broad.mit.edu 37 6 110763799 110763799 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:110763799C>A uc003puf.2 - 4 898 c.831G>T c.(829-831)GTG>GTT p.V277V SLC22A16_uc003pue.2_Silent_p.V258V NM_033125 NP_149116 Q86VW1 S22AG_HUMAN solute carrier family 22, member 16 277 Helical; (Potential). acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis integral to membrane carnitine transporter activity ovary(1) 1 all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101) OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115) AGGGGACAGTCACTGTGGAGA 0.478 NA 11 44 5.50884e-06 6.35635e-06 0.013537 1 0 ENPP3 5169 broad.mit.edu 37 6 132058512 132058512 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:132058512G>T uc003qcu.3 + 23 2454 c.2107G>T c.(2107-2109)GAT>TAT p.D703Y ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.D703Y NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 703 Extracellular (Potential).|Nuclease. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) TAGAACATCAGATAGCCAATA 0.294 NA 17 67 4.63292e-17 7.16158e-17 0.008871 1 0 TAAR9 134860 broad.mit.edu 37 6 132859760 132859760 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:132859760T>G uc011eci.1 + 2 334 c.332T>G c.(331-333)TTT>TGT p.F111C NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 111 Helical; Name=3; (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) CATACATGTTTTGACACATCC 0.418 Colon(10;433 445 15992 45047 47213) NA 11 47 0 0 0.013537 0 0 EYA4 2070 broad.mit.edu 37 6 133785997 133785997 + Splice_Site SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:133785997G>A uc003qec.3 + 10 1262 c.804_splice c.e10+1 p.Q268_splice EYA4_uc011ecq.1_Splice_Site_p.Q214_splice|EYA4_uc011ecr.1_Splice_Site_p.Q214_splice|EYA4_uc003qed.3_Splice_Site_p.Q268_splice|EYA4_uc003qee.3_Splice_Site_p.Q245_splice|EYA4_uc011ecs.1_Splice_Site_p.Q268_splice|uc003qef.1_Intron NM_004100 NP_004091 O95677 EYA4_HUMAN eyes absent 4 isoform a anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity large_intestine(2) 2 Colorectal(23;0.221) GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152) TTCACAACAGGTATAGTAGCT 0.323 Melanoma(57;398 1237 3528 4702 7415) NA 6 22 0 0 0.001168 0 0 ELMO1 9844 broad.mit.edu 37 7 36927225 36927225 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:36927225G>T uc003tfk.1 - 18 1961 c.1654C>A c.(1654-1656)CGC>AGC p.R552S ELMO1_uc003tfi.1_Missense_Mutation_p.R72S|ELMO1_uc003tfj.1_Missense_Mutation_p.R72S|ELMO1_uc011kbb.1_Intron|ELMO1_uc011kbc.1_Missense_Mutation_p.R456S|ELMO1_uc010kxg.1_Missense_Mutation_p.R552S NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 552 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 CGGTTCAGGCGTTGCTGTTTG 0.473 NA 34 66 2.40579e-17 3.76998e-17 0.00623 1 0 ELMO1 9844 broad.mit.edu 37 7 37252959 37252959 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:37252959T>G uc003tfk.1 - 12 1242 c.935A>C c.(934-936)AAA>ACA p.K312T ELMO1_uc011kbc.1_Missense_Mutation_p.K216T|ELMO1_uc010kxg.1_Missense_Mutation_p.K312T NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 312 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GGGGTCCATTTTGGTCATCAT 0.498 NA 5 146 0 0 0.000602 0 0 ABCA13 154664 broad.mit.edu 37 7 48320968 48320968 + Nonsense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:48320968C>T uc003toq.2 + 19 8780 c.8755C>T c.(8755-8757)CAG>TAG p.Q2919* ABCA13_uc010kys.1_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 2919 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AGTTTTCCAGCAGACTGTGAA 0.428 NA 3 12 0 0 0.009096 0 0 ABCA13 154664 broad.mit.edu 37 7 48520676 48520676 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:48520676A>G uc003toq.2 + 46 13044 c.13019A>G c.(13018-13020)CAC>CGC p.H4340R ABCA13_uc010kys.1_Missense_Mutation_p.H1415R|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.H70R NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4340 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CTGACCAACCACCTGGGCCAC 0.408 NA 4 13 0 0 0.000602 0 0 CDC14C 168448 broad.mit.edu 37 7 48964946 48964946 + Silent SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:48964946T>C uc010kyv.1 + 1 790 c.678T>C c.(676-678)AAT>AAC p.N226N NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 AGAATCACAATGTTACTACCA 0.403 NA 14 39 0 0 0.00333 0 0 ZPBP 11055 broad.mit.edu 37 7 50129290 50129290 + Missense_Mutation SNP C C A rs148222395 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:50129290C>A uc003tou.2 - 2 213 c.143G>T c.(142-144)CGA>CTA p.R48L ZPBP_uc010kyw.2_Missense_Mutation_p.R48L NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 48 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) TCTTGGTAATCGAACCAAGTG 0.284 NA 7 23 0.00307968 0.00318995 0.00308 1 0 SEC61G 23480 broad.mit.edu 37 7 54825215 54825215 + Missense_Mutation SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:54825215T>C uc003tqf.2 - 2 158 c.67A>G c.(67-69)AAA>GAA p.K23E SEC61G_uc003tqg.2_Missense_Mutation_p.K23E NM_001012456 NP_001012474 P60059 SC61G_HUMAN Sec61 gamma subunit 23 Cytoplasmic (Potential). protein targeting to ER endoplasmic reticulum membrane|integral to membrane P-P-bond-hydrolysis-driven protein transmembrane transporter activity lung(1) 1 Esophageal squamous(2;7.55e-08)|Breast(14;0.0654) Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164) GTGCATCTTTTAACCAGCCGA 0.358 NA 39 90 0 0 0.007835 0 0 ZNF117 51351 broad.mit.edu 37 7 64438693 64438693 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:64438693C>A uc003ttr.2 - 4 2541 c.1256G>T c.(1255-1257)TGT>TTT p.C419F NM_015852 NP_056936 Q03924 ZN117_HUMAN zinc finger protein 117 419 C2H2-type 12. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 Lung NSC(55;0.0295)|all_lung(88;0.0691) ACATTCTTCACATTTGTAGAG 0.378 NA 41 25 2.26627e-22 3.85648e-22 0.007835 1 0 PCLO 27445 broad.mit.edu 37 7 82546048 82546048 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:82546048A>T uc003uhx.2 - 7 11543 c.11254T>A c.(11254-11256)TGC>AGC p.C3752S PCLO_uc003uhv.2_Missense_Mutation_p.C3752S|PCLO_uc010lec.2_Missense_Mutation_p.C717S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3683 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTGGTTCTGCAGATCCTTCTC 0.458 NA 7 53 0 0 0.001984 0 0 ABCB4 5244 broad.mit.edu 37 7 87037453 87037453 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:87037453T>G uc003uiv.1 - 25 3255 c.3179A>C c.(3178-3180)AAG>ACG p.K1060T ABCB4_uc003uiw.1_Missense_Mutation_p.K1060T|ABCB4_uc003uix.1_Missense_Mutation_p.K1013T NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 1060 ABC transporter 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) CTGGCCTTTCTTCACCTCCAG 0.552 NA 5 89 0 0 0.000602 0 0 TECPR1 25851 broad.mit.edu 37 7 97852397 97852397 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:97852397C>A uc003upg.2 - 21 3038 c.2833G>T c.(2833-2835)GGT>TGT p.G945C NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 945 integral to membrane protein binding pancreas(1) 1 CCCTCGGCACCCGGGCTCTCC 0.672 NA 3 2 0.00024832 0.000266057 0.009096 1 0 FOXP2 93986 broad.mit.edu 37 7 114269998 114269998 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:114269998C>A uc003vhb.2 + 5 909 c.535C>A c.(535-537)CAG>AAG p.Q179K FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.Q204K|FOXP2_uc003vha.2_Missense_Mutation_p.Q87K|FOXP2_uc011kmu.1_Missense_Mutation_p.Q196K|FOXP2_uc011kmv.1_Missense_Mutation_p.Q179K|FOXP2_uc010ljz.1_Missense_Mutation_p.Q87K|FOXP2_uc003vgt.1_RNA|FOXP2_uc003vgv.1_Missense_Mutation_p.Q179K|FOXP2_uc003vgx.2_Missense_Mutation_p.Q179K|FOXP2_uc003vhd.2_Missense_Mutation_p.Q179K|FOXP2_uc003vhc.2_Missense_Mutation_p.Q204K NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 179 Gln-rich. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 gcagcaacaacagcagcagca 0.159 NA 6 47 4.096e-09 5.10425e-09 0.001168 1 0 ASZ1 136991 broad.mit.edu 37 7 117025861 117025861 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:117025861C>T uc003vjb.2 - 5 506 c.443G>A c.(442-444)AGA>AAA p.R148K ASZ1_uc011kno.1_Missense_Mutation_p.R148K|ASZ1_uc011knp.1_Intron NM_130768 NP_570124 Q8WWH4 ASZ1_HUMAN ankyrin repeat, SAM and basic leucine zipper 148 ANK 4. cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(10;0.00156)|all_lung(10;0.00175) STAD - Stomach adenocarcinoma(10;0.000512) GGTCATAAGTCTCCTAAGGAG 0.418 NA 4 42 0 0 0.009096 0 0 WDR91 29062 broad.mit.edu 37 7 134873253 134873253 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:134873253C>A uc003vsp.2 - 13 1875 c.1813G>T c.(1813-1815)GGG>TGG p.G605W WDR91_uc010lmq.2_Missense_Mutation_p.G194W|WDR91_uc010lmr.2_Intron NM_014149 NP_054868 A4D1P6 WDR91_HUMAN WD repeat domain 91 605 WD 5. breast(2)|ovary(1)|skin(1) 4 TAGACCTCCCCGTAGTGGGCC 0.512 NA 75 67 1.69331e-39 3.31301e-39 0.01441 1 0 DGKI 9162 broad.mit.edu 37 7 137170135 137170135 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:137170135C>A uc003vtt.2 - 24 2413 c.2412G>T c.(2410-2412)CAG>CAT p.Q804H DGKI_uc003vtu.2_Missense_Mutation_p.Q504H NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 804 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 AATGAACTCTCTGGGAGCCAG 0.353 NA 10 8 2.80697e-09 3.51958e-09 0.010729 1 0 FAM115A 9747 broad.mit.edu 37 7 143573464 143573464 + Missense_Mutation SNP C C T rs150435300 byFrequency TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:143573464C>T uc003wdo.1 - 2 371 c.238G>A c.(238-240)GCA>ACA p.A80T FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.A80T NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 80 0 Melanoma(164;0.0903) CACCCCACTGCGTTCAGGAGA 0.607 NA 25 17 0 0 0.00278 0 0 OR2A12 346525 broad.mit.edu 37 7 143792988 143792988 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:143792988C>T uc011kty.1 + 1 788 c.788C>T c.(787-789)TCA>TTA p.S263L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) GCCCCCAAGTCAAGCCATTCT 0.552 NA 157 127 0 0 0.01441 0 0 OR2A2 442361 broad.mit.edu 37 7 143806748 143806748 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:143806748C>A uc011ktz.1 + 1 73 c.73C>A c.(73-75)CTC>ATC p.L25I NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 25 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) ACTGGCGATTCTCCTCTGTGG 0.517 NA 12 106 0.00185496 0.00193623 0.001855 1 0 TEX15 56154 broad.mit.edu 37 8 30701125 30701125 + Nonsense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:30701125G>T uc003xil.2 - 1 5409 c.5409C>A c.(5407-5409)TGC>TGA p.C1803* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1803 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AAAAATCAAAGCAATCGGAAC 0.323 NA 9 18 0.00448238 0.00463103 0.004482 1 0 ANK1 286 broad.mit.edu 37 8 41519408 41519408 + Nonsense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:41519408G>A uc003xok.2 - 41 5614 c.5530C>T c.(5530-5532)CAG>TAG p.Q1844* NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Nonsense_Mutation_p.Q998*|ANK1_uc003xoi.2_Nonsense_Mutation_p.Q1844*|ANK1_uc003xoj.2_Nonsense_Mutation_p.Q1844*|ANK1_uc003xol.2_Nonsense_Mutation_p.Q1682*|ANK1_uc003xom.2_Nonsense_Mutation_p.Q1885*|ANK1_uc011lcl.1_Nonsense_Mutation_p.Q119*|ANK1_uc003xod.2_Nonsense_Mutation_p.Q119*|ANK1_uc003xoc.2_Nonsense_Mutation_p.Q119*|ANK1_uc003xof.2_Intron|MIR486_hsa-mir-486|MI0002470_5'Flank NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1844 55 kDa regulatory 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) TCGTGCTCCTGGGCGGCATCG 0.512 NA 30 48 0 0 0.010818 0 0 SNTG1 54212 broad.mit.edu 37 8 51571151 51571151 + Splice_Site SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:51571151G>T uc010lxy.1 + 16 1338 c.967_splice c.e16-1 p.V323_splice SNTG1_uc003xqs.1_Splice_Site_p.V323_splice|SNTG1_uc010lxz.1_Splice_Site_p.V323_splice|SNTG1_uc011ldl.1_Splice_Site NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) ATCTTTTAAAGGTGACCACCT 0.303 NA 6 71 2.7689e-08 3.38792e-08 0.001984 1 0 PCMTD1 115294 broad.mit.edu 37 8 52773652 52773652 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:52773652T>A uc003xqx.3 - 2 401 c.60A>T c.(58-60)GAA>GAT p.E20D PCMTD1_uc003xqw.3_Missense_Mutation_p.E20D|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.E20D NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 20 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TATACTGAGCTTCTTTTAAAT 0.358 NA 21 53 0 0 0.014323 0 0 CLVS1 157807 broad.mit.edu 37 8 62212596 62212596 + Silent SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:62212596T>A uc003xuh.2 + 2 534 c.210T>A c.(208-210)CGT>CGA p.R70R CLVS1_uc003xug.2_Silent_p.R70R|CLVS1_uc003xui.2_Intron|CLVS1_uc010lyp.2_Silent_p.R70R NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 70 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 GATTTTTACGTACAGATGATG 0.473 NA 22 68 0 0 0.014323 0 0 TRPA1 8989 broad.mit.edu 37 8 72969995 72969995 + Silent SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:72969995A>T uc003xza.2 - 9 1225 c.1050T>A c.(1048-1050)ACT>ACA p.T350T NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 350 Cytoplasmic (Potential).|ANK 9. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) ATGCAGAAGCAGTTGCTAATA 0.373 NA 15 52 0 0 0.00499 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776697 77776697 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:77776697C>A uc003yav.2 + 11 10999 c.10612C>A c.(10612-10614)CAG>AAG p.Q3538K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3534 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) TGAGCTGAGCCAGAAGCTAGA 0.453 NA HNSCC(33;0.089) 29 65 2.48779e-11 3.36976e-11 0.005443 1 0 OSR2 116039 broad.mit.edu 37 8 99961384 99961384 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:99961384C>A uc003yir.2 + 2 739 c.204C>A c.(202-204)ACC>ACA p.T68T OSR2_uc010mbn.2_Silent_p.T68T|OSR2_uc003yiq.2_Silent_p.T68T|OSR2_uc011lgx.1_Silent_p.T189T NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 68 bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) CCCGCTCCACCATCACGGAGA 0.652 NA 34 29 5.85407e-19 9.48359e-19 0.01441 1 0 CSMD3 114788 broad.mit.edu 37 8 113420594 113420594 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:113420594G>T uc003ynu.2 - 34 5717 c.5558C>A c.(5557-5559)ACT>AAT p.T1853N CSMD3_uc003yns.2_Intron|CSMD3_uc003ynt.2_Missense_Mutation_p.T1813N|CSMD3_uc011lhx.1_Missense_Mutation_p.T1749N NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1853 Extracellular (Potential).|CUB 10. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TCCAACTGAAGTAAATCGAAT 0.338 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 41 62 1.21353e-23 2.09141e-23 0.01441 1 0 ZNF572 137209 broad.mit.edu 37 8 125989475 125989475 + Missense_Mutation SNP A A T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:125989475A>T uc003yrr.2 + 3 1120 c.965A>T c.(964-966)CAT>CTT p.H322L NM_152412 NP_689625 Q7Z3I7 ZN572_HUMAN zinc finger protein 572 322 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CAGAGAATACATACAGGAGAA 0.403 NA HNSCC(60;0.17) 21 55 0 0 0.008871 0 0 ADCY8 114 broad.mit.edu 37 8 131792865 131792865 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:131792865G>T uc003ytd.3 - 18 3783 c.3527C>A c.(3526-3528)CCC>CAC p.P1176H ADCY8_uc010mds.2_Missense_Mutation_p.P1045H NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1176 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 integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GAATGGGTTGGGTTGGACTCT 0.517 NA HNSCC(32;0.087) 58 74 1.54043e-34 2.92899e-34 0.01441 1 0 CYP11B1 1584 broad.mit.edu 37 8 143960556 143960556 + Missense_Mutation SNP T T G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr8:143960556T>G uc003yxi.2 - 2 294 c.287A>C c.(286-288)GAC>GCC p.D96A CYP11B1_uc003yxh.2_5'Flank|CYP11B1_uc003yxj.2_Missense_Mutation_p.D96A|CYP11B1_uc010mey.2_Missense_Mutation_p.D141A NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 96 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) CTTCTCCACGTCCTCCGGCAG 0.632 NA Familial_Hyperaldosteronism_type_I 8 83 0 0 0.004482 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18574147 18574147 + Silent SNP T T C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:18574147T>C uc003zne.3 + 4 484 c.357T>C c.(355-357)TGT>TGC p.C119C ADAMTSL1_uc003znb.2_Silent_p.C119C|ADAMTSL1_uc003znc.3_Silent_p.C119C NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 119 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) ACAACCCATGTTCACTCAAGT 0.458 NA 42 94 0 0 0.01441 0 0 PRUNE2 158471 broad.mit.edu 37 9 79325691 79325691 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:79325691G>T uc010mpk.2 - 8 1623 c.1499C>A c.(1498-1500)CCC>CAC p.P500H NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 500 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 AGAAGCCATGGGTGCTGGGTC 0.567 NA 20 17 1.00905e-13 1.45432e-13 0.008871 1 0 XPA 7507 broad.mit.edu 37 9 100459595 100459595 + Translation_Start_Site SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:100459595C>A uc004axr.3 - 1 97 c.-20G>T c.(-22--18)TAGGT>TATGT XPA_uc004axs.3_RNA NM_000380 NP_000371 P23025 XPA_HUMAN xeroderma pigmentosum, complementation group A nucleotide-excision repair, DNA damage removal nucleoplasm damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity breast(1) 1 Acute lymphoblastic leukemia(62;0.158) CTCCGAGGACCTAGCTCCCAG 0.731 NA Mis|N|F|S skin basal cell|skin squamous cell|melanoma NER Xeroderma_Pigmentosum 6 26 1.12685e-05 1.28195e-05 0.004482 1 0 RNF20 56254 broad.mit.edu 37 9 104303258 104303258 + Splice_Site SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:104303258G>C uc004bbn.2 + 5 718 c.628_splice c.e5+1 p.D210_splice NM_019592 NP_062538 Q5VTR2 BRE1A_HUMAN ring finger protein 20 histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process nucleolus|ubiquitin ligase complex histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(1)|breast(1)|kidney(1)|skin(1) 8 all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311) AACAGTGGAGGTGAGGCAAGA 0.438 NA 26 28 0 0 0.00333 0 0 ABCA1 19 broad.mit.edu 37 9 107547747 107547747 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:107547747C>A uc004bcl.2 - 49 6888 c.6575G>T c.(6574-6576)AGC>ATC p.S2192I NIPSNAP3B_uc004bcj.1_Intron NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 2192 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GGAGAGGATGCTGAATATCCT 0.418 NA 34 37 8.4185e-14 1.22204e-13 0.012213 1 0 SPTAN1 6709 broad.mit.edu 37 9 131345394 131345394 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:131345394G>T uc004bvl.3 + 15 1958 c.1845G>T c.(1843-1845)CAG>CAT p.Q615H SPTAN1_uc011mbg.1_Missense_Mutation_p.Q615H|SPTAN1_uc011mbh.1_Missense_Mutation_p.Q627H|SPTAN1_uc004bvm.3_Missense_Mutation_p.Q615H|SPTAN1_uc004bvn.3_Missense_Mutation_p.Q615H NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 615 Spectrin 7. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 AGAAGCATCAGGCTTTTGAGG 0.463 NSCLC(120;833 1744 2558 35612 37579) NA 5 53 3.59834e-05 3.99267e-05 0.001168 1 0 ABCA2 20 broad.mit.edu 37 9 139910907 139910907 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr9:139910907C>A uc011mem.1 - 20 3085 c.2937G>T c.(2935-2937)ATG>ATT p.M979I ABCA2_uc011mel.1_Missense_Mutation_p.M980I|ABCA2_uc004ckl.1_Missense_Mutation_p.M910I|ABCA2_uc004ckm.1_Missense_Mutation_p.M1010I|ABCA2_uc004ckn.1_RNA NM_001606 NP_001597 Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A, member 2 979 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances 0 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCTCCTCCTCCATGCCACGGG 0.642 NA 14 120 0.000219431 0.000235729 0.00245 1 0 XG 7499 broad.mit.edu 37 X 2688630 2688630 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:2688630C>A uc011mhg.1 + 2 324 c.101C>A c.(100-102)CCT>CAT p.P34H XG_uc010ndb.2_RNA|XG_uc004cqp.2_Missense_Mutation_p.P34H NM_175569 NP_780778 P55808 XG_HUMAN XG glycoprotein isoform 1 precursor 34 Extracellular (Potential). integral to membrane|plasma membrane ovary(1) 1 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) CTTGATGACCCTGGTAAGTGC 0.488 NA 30 76 1.74807e-11 2.38373e-11 0.010818 1 0 MXRA5 25878 broad.mit.edu 37 X 3235859 3235859 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:3235859A>G uc004crg.3 - 6 6020 c.5863T>C c.(5863-5865)TCC>CCC p.S1955P NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1955 Ig-like C2-type 4. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) TGGTAGTGGGAGGCTAGGATT 0.572 NA 12 35 0 0 0.013537 0 0 MXRA5 25878 broad.mit.edu 37 X 3240143 3240143 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:3240143G>T uc004crg.3 - 5 3740 c.3583C>A c.(3583-3585)CAA>AAA p.Q1195K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 1195 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTCTCCACTTGACTTGAAATC 0.473 NA 41 59 4.92203e-23 8.41106e-23 0.00623 1 0 FANCB 2187 broad.mit.edu 37 X 14863393 14863393 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:14863393C>A uc004cwg.1 - 8 1780 c.1512G>T c.(1510-1512)GTG>GTT p.V504V FANCB_uc004cwh.1_Silent_p.V504V NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 504 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) ATGATAAAGTCACATCATTCA 0.348 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 18 57 3.32936e-07 3.95422e-07 0.006122 1 0 MAP3K15 389840 broad.mit.edu 37 X 19389565 19389565 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:19389565G>T uc004czk.1 - 24 3254 c.1617C>A c.(1615-1617)CAC>CAA p.H539Q MAP3K15_uc004czj.1_Missense_Mutation_p.H499Q|MAP3K15_uc004czi.1_5'UTR NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 1064 ATP binding|MAP kinase kinase kinase activity|metal ion binding ovary(3)|lung(2)|stomach(1)|skin(1) 7 Hepatocellular(33;0.183) CCATCACCCGGTGCTCTGGGG 0.502 NA 37 77 2.54651e-27 4.54333e-27 0.006999 1 0 ACOT9 23597 broad.mit.edu 37 X 23723693 23723693 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:23723693G>T uc004dap.2 - 12 1071 c.925C>A c.(925-927)CGG>AGG p.R309R ACOT9_uc004dan.2_Silent_p.R59R|ACOT9_uc004dao.2_Silent_p.R318R|ACOT9_uc004daq.2_Silent_p.R267R|ACOT9_uc004dar.2_Silent_p.R249R|ACOT9_uc011mjt.1_RNA|ACOT9_uc004das.2_Silent_p.R249R NM_001033583 NP_001028755 Q9Y305 ACOT9_HUMAN acyl-Coenzyme A thioesterase 2, mitochondrial 309 acyl-CoA metabolic process mitochondrion acetyl-CoA hydrolase activity|carboxylesterase activity ovary(2)|pancreas(1) 3 CCAAAGATCCGATTGAAAATG 0.398 NA 46 110 5.34276e-22 9.0159e-22 0.01441 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938179 29938179 + Missense_Mutation SNP G G C TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:29938179G>C uc004dby.2 + 8 1533 c.1025G>C c.(1024-1026)CGT>CCT p.R342P NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 342 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GGAAATGGACGTCGACACGCC 0.438 NA 28 59 0 0 0.007291 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269550 30269550 + Missense_Mutation SNP A A G TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:30269550A>G uc004dcc.2 + 4 1260 c.940A>G c.(940-942)AGA>GGA p.R314G MAGEB1_uc004dcd.2_Missense_Mutation_p.R314G|MAGEB1_uc004dce.2_Missense_Mutation_p.R314G NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 314 0 TGAGGAAGAGAGAGCCCAAGT 0.537 NA 20 56 0 0 0.012319 0 0 MAGEB16 139604 broad.mit.edu 37 X 35820780 35820780 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:35820780T>A uc010ngt.1 + 2 746 c.467T>A c.(466-468)CTG>CAG p.L156Q NM_001099921 NP_001093391 A2A368 MAGBG_HUMAN melanoma antigen family B, 16 156 MAGE. p.L323R(1) lung(3)|ovary(2)|breast(1)|skin(1) 7 GAGATCCTCCTGAGAGCTTCT 0.468 NA 16 60 0 0 0.004007 0 0 FAM47C 442444 broad.mit.edu 37 X 37026557 37026557 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:37026557C>T uc004ddl.1 + 1 88 c.74C>T c.(73-75)CCG>CTG p.P25L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 25 ovary(3) 3 TGTGACAAACCGCCTTCCAAG 0.647 NA 8 28 0 0 0.00308 0 0 RGN 9104 broad.mit.edu 37 X 46949272 46949272 + Silent SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:46949272C>T uc004dgz.1 + 5 1413 c.444C>T c.(442-444)GAC>GAT p.D148D RGN_uc004dha.1_Silent_p.D148D|RGN_uc010nho.1_Silent_p.D95D|RGN_uc010nhp.1_Intron NM_152869 NP_690608 Q15493 RGN_HUMAN regucalcin 148 cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling cytoplasm|nucleus calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding 0 AGTACTTTGACCAGGTGGACA 0.502 NA 18 61 0 0 0.00499 0 0 XAGE5 170627 broad.mit.edu 37 X 52842245 52842245 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:52842245G>T uc004drd.1 + 3 219 c.154G>T c.(154-156)GAT>TAT p.D52Y NM_130775 NP_570131 Q8WWM1 GAGD5_HUMAN X antigen family, member 5 52 ovary(1) 1 GAGAGAAGATGATCAGGGTGC 0.547 NA 10 35 1.08611e-07 1.30915e-07 0.010729 1 0 HUWE1 10075 broad.mit.edu 37 X 53578393 53578393 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:53578393G>T uc004dsp.2 - 64 9332 c.8930C>A c.(8929-8931)CCT>CAT p.P2977H HUWE1_uc004dsn.2_Missense_Mutation_p.P1801H NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2977 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 GATGTCATCAGGCAGGGCAGC 0.527 NA 3 13 0.004672 0.00481466 0.004672 1 0 WNK3 65267 broad.mit.edu 37 X 54224971 54224972 + Missense_Mutation DNP GG GG AT TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:54224971_54224972GG>AT uc004dtd.1 - 23 5456_5457 c.5017_5018CC>AT c.(5017-5019)CCA>ATA p.P1673I WNK3_uc004dtc.1_Missense_Mutation_p.P1730I|uc004dtb.1_5'Flank NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1673 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TGATGATAATGGCCCAGGAAAT 0.485 NA 25 30 0 0 0.004672 0 0 PFKFB1 5207 broad.mit.edu 37 X 54982650 54982650 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:54982650C>A uc004dty.1 - 7 645 c.574G>T c.(574-576)GAC>TAC p.D192Y PFKFB1_uc010nkd.1_Intron|PFKFB1_uc011mol.1_Missense_Mutation_p.D127Y NM_002625 NP_002616 P16118 F261_HUMAN 6-phosphofructo-2-kinase/fructose-2, 192 6-phosphofructo-2-kinase. energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(1) 1 TTTAGAAAGTCTTCCAGAACC 0.353 NA 21 44 6.44725e-10 8.31572e-10 0.014323 1 0 ZXDA 7789 broad.mit.edu 37 X 57936549 57936549 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:57936549G>T uc004dve.2 - 1 519 c.306C>A c.(304-306)ACC>ACA p.T102T NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 102 positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CGGAGCCCGCGGTCTCCACGT 0.736 NA 6 15 2.7689e-08 3.38792e-08 0.001984 1 0 FAM123B 139285 broad.mit.edu 37 X 63413106 63413106 + Missense_Mutation SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:63413106G>T uc004dvo.2 - 2 334 c.61C>A c.(61-63)CGT>AGT p.R21S NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 21 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GTTTGTTCACGGGTACTCCCA 0.552 NA 32 124 2.81731e-10 3.66885e-10 0.010818 1 0 MED12 9968 broad.mit.edu 37 X 70345265 70345265 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:70345265G>A uc004dyy.2 + 16 2490 c.2291G>A c.(2290-2292)CGA>CAA p.R764Q MED12_uc011mpq.1_Missense_Mutation_p.R764Q|MED12_uc004dyz.2_Missense_Mutation_p.R764Q|MED12_uc004dza.2_Missense_Mutation_p.R611Q NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 764 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GGAAAGCAGCGAGATGATGCC 0.537 NA 9 21 0 0 0.004482 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004593 75004593 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:75004593G>A uc004ecj.1 - 1 479 c.294C>T c.(292-294)TTC>TTT p.F98F NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 98 MAGE 1. ovary(1)|skin(1) 2 TCATTCTCATGAAATTCACCA 0.532 NA 10 148 0 0 0.008291 0 0 NXF5 55998 broad.mit.edu 37 X 101095988 101095988 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:101095988C>A uc011mrk.1 - 8 840 c.480G>T c.(478-480)GAG>GAT p.E160D NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 160 LRR 1. mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 AAGGCTTCACCTCAGGGAAAT 0.493 NA 53 114 1.93748e-29 3.51874e-29 0.01441 1 0 PLP1 5354 broad.mit.edu 37 X 103041586 103041586 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:103041586C>A uc010nov.2 + 4 664 c.384C>A c.(382-384)GGC>GGA p.G128G RAB9B_uc004eli.1_Intron|PLP1_uc004elk.2_Silent_p.G128G|PLP1_uc004elj.2_Intron|PLP1_uc011msf.1_Silent_p.G73G|PLP1_uc010now.1_Silent_p.G132G|PLP1_uc010nox.2_Silent_p.G82G NM_001128834 NP_001122306 P60201 MYPR_HUMAN proteolipid protein 1 isoform 1 128 Cytoplasmic (Probable). Missing (in HLD1). cell death|synaptic transmission integral to membrane ovary(1) 1 GTTCCAGAGGCCAACATCAAG 0.547 NA 41 128 6.48837e-15 9.6256e-15 0.010771 1 0 LHFPL1 340596 broad.mit.edu 37 X 111914366 111914366 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:111914366T>A uc004epq.2 - 2 586 c.253A>T c.(253-255)ACA>TCA p.T85S LHFPL1_uc004epp.2_Missense_Mutation_p.T108S|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Missense_Mutation_p.T85S NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 precursor 85 integral to membrane 0 GTCACCACTGTGCACATCTGC 0.597 NA 19 36 0 0 0.008871 0 0 PLS3 5358 broad.mit.edu 37 X 114863589 114863589 + Missense_Mutation SNP T T A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:114863589T>A uc004eqd.2 + 4 707 c.317T>A c.(316-318)CTG>CAG p.L106Q PLS3_uc010nqf.2_RNA|PLS3_uc010nqg.2_Intron|PLS3_uc011mtf.1_Missense_Mutation_p.L84Q|PLS3_uc004eqe.2_Missense_Mutation_p.L106Q|PLS3_uc011mtg.1_Missense_Mutation_p.L79Q|PLS3_uc011mth.1_Missense_Mutation_p.L61Q NM_005032 NP_005023 P13797 PLST_HUMAN plastin 3 106 cytoplasm actin binding|calcium ion binding lung(1)|breast(1) 2 ATTTGTGCTCTGGGTGGAACT 0.373 Colon(160;1047 1864 8490 12969 29601) NA 27 57 0 0 0.00632 0 0 CXorf56 63932 broad.mit.edu 37 X 118676546 118676546 + Silent SNP G G T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:118676546G>T uc004erk.1 - 5 481 c.435C>A c.(433-435)ACC>ACA p.T145T CXorf56_uc004erj.1_Silent_p.T96T|CXorf56_uc011mtu.1_Silent_p.T131T NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 145 protein binding 0 TGGTCCGTTTGGTCATCATCA 0.522 NA 27 78 1.77063e-15 2.64615e-15 0.005443 1 0 FAM70A 55026 broad.mit.edu 37 X 119410885 119410885 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:119410885C>A uc004eso.3 - 8 829 c.602G>T c.(601-603)GGT>GTT p.G201V FAM70A_uc004esp.3_Missense_Mutation_p.G177V|FAM70A_uc010nqo.2_Intron NM_017938 NP_060408 Q5JRV8 FA70A_HUMAN hypothetical protein LOC55026 isoform 1 201 integral to membrane lung(1)|breast(1) 2 GTAGTACCCACCAGTGATCTC 0.587 NA 20 93 2.94398e-08 3.5913e-08 0.007413 1 0 GRIA3 2892 broad.mit.edu 37 X 122528962 122528962 + Silent SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:122528962C>A uc004etq.3 + 7 1187 c.894C>A c.(892-894)GCC>GCA p.A298A GRIA3_uc004etr.3_Silent_p.A298A|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Silent_p.A282A NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 298 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TCCCTGAAGCCAAGAATGCAC 0.418 NA 30 82 2.81731e-10 3.66885e-10 0.010818 1 0 ODZ1 10178 broad.mit.edu 37 X 123657421 123657421 + Silent SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:123657421G>A uc004euj.2 - 17 2890 c.2826C>T c.(2824-2826)TCC>TCT p.S942S ODZ1_uc011muj.1_Silent_p.S941S|ODZ1_uc010nqy.2_Silent_p.S942S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 942 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 GCAGGAAAGGGGATCGGTCGA 0.443 NA 15 39 0 0 0.003163 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685987 125685987 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:125685987C>A uc004eul.2 - 1 856 c.605G>T c.(604-606)TGG>TTG p.W202L NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 202 WD 2. skin(3)|ovary(1) 4 GTCACTCAGCCAGGCGACGGC 0.652 NA 15 29 2.23348e-06 2.59931e-06 0.004007 1 0 DCAF12L1 139170 broad.mit.edu 37 X 125686176 125686176 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:125686176C>A uc004eul.2 - 1 667 c.416G>T c.(415-417)AGT>ATT p.S139I NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 139 skin(3)|ovary(1) 4 CCTGGCCTCACTGTCCCGCAA 0.632 NA 20 44 2.70639e-06 3.14066e-06 0.014323 1 0 VGLL1 51442 broad.mit.edu 37 X 135630964 135630964 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:135630964C>A uc004ezy.2 + 3 601 c.431C>A c.(430-432)CCT>CAT p.P144H MIR934_hsa-mir-934|MI0005756_5'Flank NM_016267 NP_057351 Q99990 VGLL1_HUMAN vestigial like 1 144 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity 0 Acute lymphoblastic leukemia(192;0.000127) TCCTTAGAGCCTGGCTACTCT 0.617 NA 31 105 5.45727e-16 8.27788e-16 0.008361 1 0 SPANXN2 494119 broad.mit.edu 37 X 142795227 142795227 + Missense_Mutation SNP C C A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:142795227C>A uc004fbz.2 - 2 1205 c.451G>T c.(451-453)GAC>TAC p.D151Y NM_001009615 NP_001009615 Q5MJ10 SPXN2_HUMAN SPANX-N2 protein 151 ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) AGGTCTTCGTCCTCCTGTGAA 0.512 NA 113 345 9.50027e-55 1.89537e-54 0.01441 1 0 HAUS7 55559 broad.mit.edu 37 X 152721026 152721026 + Missense_Mutation SNP G G A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:152721026G>A uc004fho.1 - 8 1492 c.934C>T c.(934-936)CAC>TAC p.H312Y HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.H312Y|HAUS7_uc004fhp.1_RNA NM_017518 NP_059988 Q99871 HAUS7_HUMAN HAUS augmin-like complex subunit 7 312 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding 0 AGATTCTGGTGCGTGGCCTGG 0.602 NA 7 43 0 0 0.001984 0 0 FLNA 2316 broad.mit.edu 37 X 153590914 153590914 + Missense_Mutation SNP C C T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chrX:153590914C>T uc004fkk.2 - 17 2686 c.2437G>A c.(2437-2439)GGA>AGA p.G813R FLNA_uc010nuu.1_Missense_Mutation_p.G813R NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 813 Filamin 6. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCTACCACTCCAGGGGCACAC 0.652 NA 23 115 0 0 0.003954 0 0 FBXO2 26232 broad.mit.edu 37 1 11710099 11710100 + Frame_Shift_Ins INS - - A TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:11710099_11710100insA uc001asj.2 - 3 765_766 c.423_424insT c.(421-426)CATGGTfs p.H141fs FBXO2_uc009vna.2_Frame_Shift_Ins_p.H141fs|FBXO2_uc009vnb.1_RNA NM_012168 NP_036300 Q9UK22 FBX2_HUMAN F-box only protein 2 141_142 FBA. glycoprotein catabolic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|endoplasmic reticulum|membrane|microsome|SCF ubiquitin ligase complex sugar binding|ubiquitin-protein ligase activity 0 Ovarian(185;0.249) Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) CCGTCCCCACCATGCTCCACGT 0.599 NA 23 147 --- --- --- --- NA NA NA NA NA UBR4 23352 broad.mit.edu 37 1 19481480 19481480 + Frame_Shift_Del DEL T T - rs149131327 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:19481480delT uc001bbi.2 - 44 6394 c.6390delA c.(6388-6390)AAAfs p.K2130fs UBR4_uc001bbl.1_Frame_Shift_Del_p.K67fs|UBR4_uc001bbm.1_Frame_Shift_Del_p.K1342fs NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 2130 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) CTGCGAATGATTTGCCTTGAC 0.512 NA 15 119 --- --- --- --- NA NA NA NA NA NLRP3 114548 broad.mit.edu 37 1 247588869 247588869 + Frame_Shift_Del DEL C C - rs149493236 TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr1:247588869delC uc001icr.2 + 5 2262 c.2124delC c.(2122-2124)CTCfs p.L708fs NLRP3_uc001ics.2_Frame_Shift_Del_p.L708fs|NLRP3_uc001icu.2_Frame_Shift_Del_p.L708fs|NLRP3_uc001icw.2_Frame_Shift_Del_p.L708fs|NLRP3_uc001icv.2_Frame_Shift_Del_p.L708fs|NLRP3_uc010pyw.1_Frame_Shift_Del_p.L706fs|NLRP3_uc001ict.1_Frame_Shift_Del_p.L706fs NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 708 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) AGTGTGTCCTCCCAAGCTCCT 0.567 NA 21 74 --- --- --- --- NA NA NA NA NA AKR1C2 1646 broad.mit.edu 37 10 5040858 5040859 + Frame_Shift_Del DEL GG GG - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr10:5040858_5040859delGG uc010qan.1 - 5 707_708 c.528_529delCC c.(526-531)ATCCTCfs p.I176fs AKR1E2_uc001ihl.1_Intron|AKR1C3_uc001ihr.2_Intron|AKR1C2_uc009xhy.2_Frame_Shift_Del_p.I150fs|AKR1C2_uc001ihs.2_Frame_Shift_Del_p.I176fs|AKR1C2_uc001iht.2_Frame_Shift_Del_p.I176fs NM_205845 NP_995317 P52895 AK1C2_HUMAN aldo-keto reductase family 1, member C2 176_177 digestion|prostaglandin metabolic process|steroid metabolic process cytoplasm androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity 0 NADH(DB00157)|Ursodeoxycholic acid(DB01586) GGCTTGTTGAGGATCATCTCCA 0.525 NA 10 57 --- --- --- --- NA NA NA NA NA SYT9 143425 broad.mit.edu 37 11 7441837 7441837 + Frame_Shift_Del DEL C C - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:7441837delC uc001mfe.2 + 6 1675 c.1438delC c.(1438-1440)CCCfs p.P480fs SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_RNA NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 480 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|large_intestine(1) 3 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCCTCGGAAGCCCATTGCACA 0.502 NA 33 47 --- --- --- --- NA NA NA NA NA CHST1 8534 broad.mit.edu 37 11 45671461 45671461 + Frame_Shift_Del DEL C C - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr11:45671461delC uc001mys.1 - 4 1684 c.1013delG c.(1012-1014)GGCfs p.G338fs NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 338 Lumenal (Potential).|Cell attachment site (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) GGTGGGGTCGCCCCGCGTGTT 0.642 NA 40 72 --- --- --- --- NA NA NA NA NA LRP1B 53353 broad.mit.edu 37 2 140997062 140997062 + Frame_Shift_Del DEL G G - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr2:140997062delG uc002tvj.1 - 88 14336 c.13364delC c.(13363-13365)ACTfs p.T4455fs NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4455 Helical; (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GGTTATCAAAGTCACCAAGAG 0.294 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 12 --- --- --- --- NA NA NA NA NA CPB1 1360 broad.mit.edu 37 3 148558565 148558565 + Frame_Shift_Del DEL G G - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr3:148558565delG uc003ewl.2 + 4 388 c.365delG c.(364-366)TGGfs p.W122fs NM_001871 NP_001862 P15086 CBPB1_HUMAN pancreatic carboxypeptidase B1 preproprotein 122 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) TACAACAAGTGGGAAACGGTA 0.423 NA 24 64 --- --- --- --- NA NA NA NA NA NEDD9 4739 broad.mit.edu 37 6 11185423 11185423 + Frame_Shift_Del DEL C C - TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr6:11185423delC uc003mzv.2 - 7 2644 c.2477delG c.(2476-2478)CGCfs p.R826fs NEDD9_uc010joz.2_Frame_Shift_Del_p.R826fs|NEDD9_uc003mzw.3_Frame_Shift_Del_p.R680fs NM_006403 NP_006394 Q14511 CASL_HUMAN neural precursor cell expressed, developmentally 826 actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus protein binding 0 Breast(50;0.0768)|Ovarian(93;0.152) all_hematologic(90;0.135) Epithelial(50;0.0647)|all cancers(50;0.179) CAGCAAAGAGCGCTTGAACAG 0.498 NA 7 78 --- --- --- --- NA NA NA NA NA LAMB1 3912 broad.mit.edu 37 7 107569639 107569640 + Frame_Shift_Ins INS - - T TCGA-49-4488-01A-01D-1753-08 TCGA-49-4488-11A-01D-1753-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3635bb9c-a332-4445-ad81-83cec426dd02 232307bb-5ab4-48c2-a008-8684ce7e1056 g.chr7:107569639_107569640insT uc003vew.2 - 31 5091_5092 c.4756_4757insA c.(4756-4758)ACAfs p.T1586fs LAMB1_uc003vev.2_Frame_Shift_Ins_p.T1610fs|LAMB1_uc003veu.2_Frame_Shift_Ins_p.T69fs NM_002291 NP_002282 P07942 LAMB1_HUMAN laminin, beta 1 precursor 1586 Potential.|Domain I. axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm extracellular matrix structural constituent ovary(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 8 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTAACATCTGTTGCACTTTTG 0.386 NA 77 72 --- --- --- --- NA NA NA NA NA