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 AGRN 375790 broad.mit.edu 37 1 979091 979091 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:979091G>T uc001ack.1 + 9 1827 c.1777G>T c.(1777-1779)GTG>TTG p.V593L NM_198576 NP_940978 O00468 AGRIN_HUMAN agrin precursor 593 Kazal-like 6. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton central_nervous_system(2)|breast(1) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CAGCCTGCACGTGGCCTCAGC 0.706 NA 5 57 8.12818e-05 8.7378e-05 0.001984 1 0 MST1P9 11223 broad.mit.edu 37 1 17085795 17085795 + Silent SNP G G T rs1057379 by1000genomes TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:17085795G>T uc010ock.1 - 8 1026 c.1026C>A c.(1024-1026)ATC>ATA p.I342I CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TACAACGCCGGATCTGGTAGC 0.687 NA 5 20 1.5842e-08 1.90992e-08 0.016723 1 0 NBPF3 84224 broad.mit.edu 37 1 21804741 21804741 + Missense_Mutation SNP A A T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:21804741A>T uc001ber.2 + 9 1447 c.1097A>T c.(1096-1098)GAC>GTC p.D366V NBPF3_uc001bes.2_Missense_Mutation_p.D310V|NBPF3_uc009vqb.2_Intron|NBPF3_uc010odm.1_Missense_Mutation_p.D296V NM_032264 NP_115640 Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 366 NBPF 2. cytoplasm upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TACCAGTCTGACAGGAGCACC 0.512 NA 34 226 0 0 0.012213 0 0 YTHDF2 51441 broad.mit.edu 37 1 29069392 29069392 + Missense_Mutation SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:29069392C>G uc001brc.2 + 4 1107 c.610C>G c.(610-612)CCA>GCA p.P204A YTHDF2_uc001brd.2_Missense_Mutation_p.P201A|YTHDF2_uc010ofx.1_Missense_Mutation_p.P154A|YTHDF2_uc001bre.2_Missense_Mutation_p.P154A NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 204 humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) AAGCAATGTTCCAAAAGTTGT 0.478 NA 11 64 0 0 0.010729 0 0 KCNA10 3744 broad.mit.edu 37 1 111061194 111061194 + Missense_Mutation SNP G G C rs140376600 byFrequency TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:111061194G>C uc001dzt.1 - 1 604 c.216C>G c.(214-216)GAC>GAG p.D72E NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 72 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GCCCTGGGGGGTCAGCATAGT 0.577 NA 4 86 0 0 0.009096 0 0 SEMA6C 10500 broad.mit.edu 37 1 151107690 151107690 + Missense_Mutation SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:151107690C>G uc001ewu.2 - 15 1829 c.1529G>C c.(1528-1530)TGT>TCT p.C510S SEMA6C_uc001ewv.2_Missense_Mutation_p.C510S|SEMA6C_uc001eww.2_Missense_Mutation_p.C470S|SEMA6C_uc010pcq.1_Missense_Mutation_p.C510S NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 510 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) GTAGACAATACAGCCAGAAAA 0.627 NA 7 92 0 0 0.004482 0 0 LY9 4063 broad.mit.edu 37 1 160793521 160793521 + Missense_Mutation SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:160793521T>C uc001fwu.2 + 8 1815 c.1765T>C c.(1765-1767)TAT>CAT p.Y589H LY9_uc001fwv.2_Missense_Mutation_p.Y575H|LY9_uc001fww.2_Missense_Mutation_p.Y499H|LY9_uc001fwx.2_Missense_Mutation_p.Y499H|LY9_uc001fwy.1_Missense_Mutation_p.Y387H|LY9_uc001fwz.2_Missense_Mutation_p.Y227H NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 589 Cytoplasmic (Potential). cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CGTCACTCCATATGTCACGGA 0.512 NA 12 220 0 0 0.003163 0 0 LRRC52 440699 broad.mit.edu 37 1 165513896 165513896 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:165513896C>T uc001gde.2 + 1 419 c.363C>T c.(361-363)TTC>TTT p.F121F LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 121 LRR 3.|Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CATTCACTTTCTCGGTGCTCA 0.498 NA 9 273 0 0 0.004482 0 0 BLZF1 8548 broad.mit.edu 37 1 169356302 169356302 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:169356302C>T uc001gfx.1 + 7 1522 c.1085C>T c.(1084-1086)TCA>TTA p.S362L BLZF1_uc001gfy.2_Missense_Mutation_p.S362L|BLZF1_uc009wvp.1_3'UTR NM_003666 NP_003657 Q9H2G9 GO45_HUMAN basic leucine zipper nuclear factor 1 362 cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter Golgi lumen|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding skin(1) 1 all_hematologic(923;0.208) TTTGAGTCTTCACCAACCACC 0.348 NA 5 94 0 0 0.014758 0 0 TNN 63923 broad.mit.edu 37 1 175086232 175086232 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:175086232G>C uc001gkl.1 + 10 2390 c.2277G>C c.(2275-2277)CAG>CAC p.Q759H NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 759 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) GGAAGGAGCAGAGTAGCACTG 0.647 NA 6 140 0 0 0.001984 0 0 TEDDM1 127670 broad.mit.edu 37 1 182369568 182369568 + Missense_Mutation SNP T T G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:182369568T>G uc001gpe.2 - 1 184 c.53A>C c.(52-54)CAA>CCA p.Q18P NM_172000 NP_741997 Q5T9Z0 TEDM1_HUMAN putative membrane protein HE9 18 integral to membrane ovary(2) 2 GGCACATCTTTGCTTATTCCT 0.448 NA 30 113 0 0 0.012213 0 0 CFHR5 81494 broad.mit.edu 37 1 196973882 196973882 + Silent SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:196973882G>A uc001gts.3 + 9 1550 c.1422G>A c.(1420-1422)GTG>GTA p.V474V NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 474 Sushi 8. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 GGTCAACAGTGACGTACCGTT 0.458 NA 8 144 0 0 0.00308 0 0 PTPRC 5788 broad.mit.edu 37 1 198666011 198666011 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:198666011G>C uc001gur.1 + 4 445 c.265G>C c.(265-267)GAT>CAT p.D89H PTPRC_uc001gus.1_Missense_Mutation_p.D89H|PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.D132H|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 89 Extracellular (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GGACTCTTTGGATAATGCTAG 0.398 NA 24 192 0 0 0.007291 0 0 SPATA17 128153 broad.mit.edu 37 1 217947767 217947767 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:217947767C>A uc001hlh.1 + 7 637 c.611C>A c.(610-612)CCT>CAT p.P204H SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Missense_Mutation_p.P204H NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 204 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) CACCGAAGACCTAAAGTTAAG 0.438 NA 9 91 3.86212e-05 4.29494e-05 0.008291 1 0 GPR137B 7107 broad.mit.edu 37 1 236306205 236306205 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:236306205C>A uc001hxq.2 + 1 374 c.283C>A c.(283-285)CTC>ATC p.L95I NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 95 Helical; (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GCGGACCGTCCTCTTCTCCTT 0.587 NA 22 142 9.86323e-18 1.25976e-17 0.021523 1 0 AKT3 10000 broad.mit.edu 37 1 243727072 243727072 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:243727072C>T uc001iab.1 - 9 979 c.898G>A c.(898-900)GCA>ACA p.A300T AKT3_uc001hzz.1_Missense_Mutation_p.A300T NM_005465 NP_005456 Q9Y243 AKT3_HUMAN AKT3 kinase isoform 1 300 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) ATGGTGGCTGCATCTGTGATC 0.398 NA 5 88 0 0 0.014758 0 0 ZNF695 57116 broad.mit.edu 37 1 247162681 247162681 + Silent SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:247162681G>A uc009xgu.2 - 3 373 c.228C>T c.(226-228)AAC>AAT p.N76N ZNF695_uc001ica.2_RNA|ZNF695_uc001icb.1_RNA|ZNF695_uc009xgt.1_RNA|ZNF695_uc001ibx.2_Silent_p.N76N|ZNF695_uc001iby.2_RNA|ZNF695_uc001icc.2_Silent_p.N64N NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 76 KRAB. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-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) CTGTGTTCACGTTCCAGGGCT 0.468 NA 9 84 0 0 0.006214 0 0 OR2M5 127059 broad.mit.edu 37 1 248308622 248308622 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:248308622C>A uc010pze.1 + 1 173 c.173C>A c.(172-174)CCC>CAC p.P58H NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 58 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 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;0.0388) CTCCACACCCCCATGTACTTC 0.522 NA 110 371 2.96211e-45 3.85972e-45 0.01441 1 0 ZEB1 6935 broad.mit.edu 37 10 31815884 31815884 + Missense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr10:31815884G>A uc001ivs.3 + 9 3130 c.3067G>A c.(3067-3069)GAC>AAC p.D1023N ZEB1_uc001ivr.3_Missense_Mutation_p.D805N|ZEB1_uc010qee.1_Missense_Mutation_p.D805N|ZEB1_uc010qef.1_Missense_Mutation_p.D805N|ZEB1_uc001ivt.3_Missense_Mutation_p.D805N|ZEB1_uc001ivu.3_Missense_Mutation_p.D1024N|ZEB1_uc001ivv.3_Missense_Mutation_p.D1003N|ZEB1_uc010qeh.1_Missense_Mutation_p.D956N|ZEB1_uc009xlp.2_Missense_Mutation_p.D1007N NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 1023 Glu-rich (acidic). cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GGGCGACTCGGACGAGAGAGA 0.408 Ovarian(40;423 959 14296 36701 49589) NA 3 29 0 0 0.004672 0 0 TACR2 6865 broad.mit.edu 37 10 71168743 71168743 + Missense_Mutation SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr10:71168743T>C uc001jpn.2 - 3 1271 c.676A>G c.(676-678)AGG>GGG p.R226G TACR2_uc001jpm.2_Missense_Mutation_p.R14G NM_001057 NP_001048 P21452 NK2R_HUMAN tachykinin receptor 2 226 Cytoplasmic (Potential). excretion|muscle contraction integral to plasma membrane tachykinin receptor activity prostate(1) 1 Clonidine(DB00575)|Octreotide(DB00104) ACTGCGCGCCTCCAGAGCGTG 0.522 NA 3 30 0 0 0.004672 0 0 OR52K2 119774 broad.mit.edu 37 11 4470976 4470976 + Missense_Mutation SNP A A C rs147450058 TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr11:4470976A>C uc001lyz.1 + 1 407 c.407A>C c.(406-408)AAG>ACG p.K136T NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 136 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTACACCAAGGTCCTGACT 0.552 NA 9 73 0 0 0.006214 0 0 SYT9 143425 broad.mit.edu 37 11 7335023 7335023 + Missense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr11:7335023G>A uc001mfe.2 + 3 1132 c.895G>A c.(895-897)GAA>AAA p.E299K SYT9_uc001mfd.2_RNA|SYT9_uc009yfi.2_Intron NM_175733 NP_783860 Q86SS6 SYT9_HUMAN synaptotagmin IX 299 Cytoplasmic (Potential).|C2 1. 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) CAATGACCTTGAAGCACGGAA 0.453 NA 11 268 0 0 0.010729 0 0 SCUBE2 57758 broad.mit.edu 37 11 9042630 9042630 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr11:9042630G>C uc001mhh.1 - 22 3042 c.2962C>G c.(2962-2964)CGT>GGT p.R988G SCUBE2_uc001mhi.1_Missense_Mutation_p.R960G|SCUBE2_uc001mhj.1_Missense_Mutation_p.R796G NM_020974 NP_066025 Q9NQ36 SCUB2_HUMAN CEGP1 protein precursor 988 extracellular region calcium ion binding ovary(1)|skin(1) 2 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) ACTTTGGAACGTAGCAATCGG 0.488 NA 10 53 0 0 0.008291 0 0 TMEM41B 440026 broad.mit.edu 37 11 9321238 9321238 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr11:9321238C>A uc001mhm.2 - 2 440 c.132G>T c.(130-132)TGG>TGT p.W44C TMEM41B_uc001mhn.1_Missense_Mutation_p.W44C NM_015012 NP_055827 Q5BJD5 TM41B_HUMAN transmembrane protein 41B isoform 1 44 integral to membrane 0 all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972) CAGCTTCTACCCAGGATTTTT 0.323 NA 5 49 0.00116845 0.00121556 0.001168 1 0 KRT81 3887 broad.mit.edu 37 12 52681054 52681054 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr12:52681054G>T uc001sab.2 - 7 1129 c.1079C>A c.(1078-1080)GCC>GAC p.A360D KRT86_uc010snq.1_Intron|KRT86_uc009zmg.2_Intron|KRT81_uc001sac.2_5'UTR NM_002281 NP_002272 Q14533 KRT81_HUMAN keratin, hair, basic, 1 360 Rod.|Coil 2. keratin filament protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.189) ATCACTGAGGGCCGCCTCACC 0.617 NA 6 61 0.00116845 0.00121556 0.001168 1 0 NCKAP1L 3071 broad.mit.edu 37 12 54902264 54902264 + Missense_Mutation SNP G G A rs149360088 byFrequency TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr12:54902264G>A uc001sgc.3 + 5 534 c.455G>A c.(454-456)CGG>CAG p.R152Q NCKAP1L_uc010sox.1_5'UTR|NCKAP1L_uc010soy.1_Missense_Mutation_p.R102Q NM_005337 NP_005328 P55160 NCKPL_HUMAN NCK-associated protein 1-like 152 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity ovary(3)|central_nervous_system(1) 4 GAAGATCGGCGGATACTCATT 0.428 NA 25 238 0 0 0.004656 0 0 PTPRB 5787 broad.mit.edu 37 12 70964879 70964879 + Silent SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr12:70964879G>T uc001swb.3 - 11 2673 c.2643C>A c.(2641-2643)GGC>GGA p.G881G PTPRB_uc010sto.1_Silent_p.G881G|PTPRB_uc010stp.1_Silent_p.G791G|PTPRB_uc001swc.3_Silent_p.G1099G|PTPRB_uc001swa.3_Silent_p.G1011G|PTPRB_uc001swd.3_Silent_p.G1098G|PTPRB_uc009zrr.1_Silent_p.G978G NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 881 Fibronectin type-III 10.|Extracellular (Potential). angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGTATTGGCGGCCTGGTGTTA 0.428 NA 6 36 5.9392e-07 6.84069e-07 0.001168 1 0 TMEM132D 121256 broad.mit.edu 37 12 130015687 130015687 + Missense_Mutation SNP A A T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr12:130015687A>T uc009zyl.1 - 3 1360 c.1032T>A c.(1030-1032)GAT>GAA p.D344E NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 344 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCTCCTTGACATCCCAAATGG 0.537 NA 4 56 0 0 0.014758 0 0 C15orf29 79768 broad.mit.edu 37 15 34455835 34455835 + Missense_Mutation SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr15:34455835T>C uc001zhp.2 - 2 203 c.43A>G c.(43-45)AAT>GAT p.N15D C15orf29_uc010ubz.1_Intron|C15orf29_uc010uca.1_Missense_Mutation_p.N15D NM_024713 NP_078989 Q9H079 CO029_HUMAN hypothetical protein LOC79768 15 nucleolus ovary(1) 1 all_lung(180;1.86e-06) all cancers(64;5.49e-18)|GBM - Glioblastoma multiforme(113;8.91e-07)|BRCA - Breast invasive adenocarcinoma(123;0.026)|Lung(196;0.229) TCAATCTTATTACAAAAGTTC 0.294 NA 7 45 0 0 0.00308 0 0 MAN2A2 4122 broad.mit.edu 37 15 91456505 91456505 + Missense_Mutation SNP G G A rs148275760 TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr15:91456505G>A uc010bnz.2 + 18 2702 c.2587G>A c.(2587-2589)GTG>ATG p.V863M MAN2A2_uc002bqc.2_Missense_Mutation_p.V863M|MAN2A2_uc010uql.1_Missense_Mutation_p.V525M|MAN2A2_uc010uqm.1_Missense_Mutation_p.V442M|MAN2A2_uc010uqn.1_RNA NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 863 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) GTACCCAGGGGTGGAGGGGCT 0.607 NA 7 67 0 0 0.001984 0 0 CHD2 1106 broad.mit.edu 37 15 93567613 93567613 + Missense_Mutation SNP A A T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr15:93567613A>T uc002bsp.2 + 39 5740 c.5165A>T c.(5164-5166)GAC>GTC p.D1722V NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1722 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CACCATCATGACTCCAAGCGG 0.493 NA 7 52 0 0 0.00308 0 0 A2BP1 54715 broad.mit.edu 37 16 7637294 7637294 + Missense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr16:7637294G>A uc002cys.2 + 7 1448 c.460G>A c.(460-462)GGC>AGC p.G154S A2BP1_uc010buf.1_Missense_Mutation_p.G154S|A2BP1_uc002cyr.1_Missense_Mutation_p.G153S|A2BP1_uc002cyt.2_Missense_Mutation_p.G154S|A2BP1_uc010uxz.1_Missense_Mutation_p.G197S|A2BP1_uc010uya.1_Missense_Mutation_p.G142S|A2BP1_uc002cyv.1_Missense_Mutation_p.G154S|A2BP1_uc010uyb.1_Missense_Mutation_p.G154S|A2BP1_uc002cyw.2_Missense_Mutation_p.G174S|A2BP1_uc002cyy.2_Missense_Mutation_p.G174S|A2BP1_uc002cyx.2_Missense_Mutation_p.G174S|A2BP1_uc010uyc.1_Missense_Mutation_p.G174S NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 154 RRM. mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TAATGAGCGAGGCTCAAAGGT 0.299 NA 9 82 0 0 0.006214 0 0 VWA3A 146177 broad.mit.edu 37 16 22155616 22155616 + Missense_Mutation SNP T T A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr16:22155616T>A uc010vbq.1 + 26 2737 c.2641T>A c.(2641-2643)TGC>AGC p.C881S VWA3A_uc010bxd.2_RNA|VWA3A_uc002dkg.3_5'UTR|VWA3A_uc010bxe.1_5'Flank NM_173615 NP_775886 A6NCI4 VWA3A_HUMAN von Willebrand factor A domain containing 3A 881 extracellular region skin(1) 1 GBM - Glioblastoma multiforme(48;0.0439) GATTTCCAGATGCATGGGTCC 0.438 NA 4 28 0 0 0.009096 0 0 CCDC135 84229 broad.mit.edu 37 16 57734101 57734101 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr16:57734101C>T uc002emi.2 + 4 512 c.423C>T c.(421-423)CCC>CCT p.P141P CCDC135_uc002emj.2_Silent_p.P141P|CCDC135_uc002emk.2_Silent_p.P141P NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 141 cytoplasm central_nervous_system(1) 1 TGCCCTACCCCGAGCTCTACA 0.577 NA 12 162 0 0 0.010729 0 0 ALDOC 230 broad.mit.edu 37 17 26902474 26902474 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr17:26902474G>T uc002hbp.2 - 2 222 c.77C>A c.(76-78)CCG>CAG p.P26Q ALDOC_uc010cro.2_Missense_Mutation_p.P26Q NM_005165 NP_005156 P09972 ALDOC_HUMAN fructose-bisphosphate aldolase C 26 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity ovary(1) 1 Lung NSC(42;0.00431) GCCTTTGCCCGGGGCTACAAT 0.572 NA OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 69 2.7689e-08 3.30729e-08 0.001984 1 0 GPR179 440435 broad.mit.edu 37 17 36499178 36499178 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr17:36499178C>T uc002hpz.2 - 1 516 c.495G>A c.(493-495)CAG>CAA p.Q165Q NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 165 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCCGGGTGGCCTGCAGGGCCA 0.647 NA 8 65 0 0 0.004482 0 0 C17orf71 55181 broad.mit.edu 37 17 57290862 57290862 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr17:57290862C>T uc002ixi.2 + 3 2720 c.2678C>T c.(2677-2679)TCA>TTA p.S893L NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 893 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) TATATTCTGTCATCCTCTCAA 0.423 NA 9 157 0 0 0.004482 0 0 GRB2 2885 broad.mit.edu 37 17 73316622 73316622 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr17:73316622C>A uc002jnx.3 - 6 838 c.481G>T c.(481-483)GTC>TTC p.V161F GRB2_uc002jny.3_Missense_Mutation_p.V120F NM_002086 NP_002077 P62993 GRB2_HUMAN growth factor receptor-bound protein 2 isoform 161 SH3 2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity ovary(3) 3 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) AGGGCCTGGACGTATGTCGGC 0.562 NA 7 50 7.48243e-07 8.54189e-07 0.006214 1 0 TMX3 54495 broad.mit.edu 37 18 66344295 66344295 + Missense_Mutation SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr18:66344295T>C uc002lkf.2 - 16 1375 c.1240A>G c.(1240-1242)AAA>GAA p.K414E TMX3_uc010xez.1_Missense_Mutation_p.K273E NM_019022 NP_061895 Q96JJ7 TMX3_HUMAN thioredoxin domain containing 10 precursor 414 Cytoplasmic (Potential). cell redox homeostasis|glycerol ether metabolic process endoplasmic reticulum membrane|integral to membrane electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity skin(1) 1 TTTTCACTTTTAGACACTTCA 0.463 NA 16 141 0 0 0.006122 0 0 ZNF236 7776 broad.mit.edu 37 18 74671705 74671705 + Silent SNP A A G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr18:74671705A>G uc002lmi.2 + 29 5367 c.5169A>G c.(5167-5169)AAA>AAG p.K1723K ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1723 C2H2-type 28. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) GAGTGTTTAAATGTGACACTT 0.512 NA 7 49 0 0 0.00308 0 0 KHSRP 8570 broad.mit.edu 37 19 6415180 6415180 + Missense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:6415180G>A uc002mer.3 - 19 2209 c.2099C>T c.(2098-2100)CCG>CTG p.P700L NM_003685 NP_003676 Q92945 FUBP2_HUMAN KH-type splicing regulatory protein 700 mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent cytosol|nucleus DNA binding|protein binding|RNA binding skin(1) 1 CGTGGGCGGCGGCTGGGGGCC 0.662 Colon(55;593 1006 2067 9135 22980) NA 7 26 0 0 0.001984 0 0 ZNF844 284391 broad.mit.edu 37 19 12187210 12187210 + Silent SNP A A G rs6511764 by1000genomes TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:12187210A>G uc002mtb.2 + 4 1418 c.1275A>G c.(1273-1275)GTA>GTG p.V425V ZNF844_uc010dym.1_Silent_p.V268V NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN zinc finger protein 844 425 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TAAGCAGTGTAGTAAAGCCTT 0.428 NA 3 50 0 0 0.004672 0 0 ZNF44 51710 broad.mit.edu 37 19 12384105 12384105 + Missense_Mutation SNP C C T rs144293271 by1000genomes TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:12384105C>T uc010xmj.1 - 5 1314 c.1109G>A c.(1108-1110)GGA>GAA p.G370E ZNF44_uc002mtl.2_Intron|ZNF44_uc010dyr.1_Intron|ZNF44_uc010xmi.1_RNA|ZNF44_uc002mtn.3_RNA|ZNF44_uc010dys.2_Missense_Mutation_p.G322E NM_001164276 NP_001157748 P15621 ZNF44_HUMAN zinc finger protein 44 isoform 1 370 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleus DNA binding|protein binding|zinc ion binding ovary(1) 1 Renal(1328;0.157) GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179) TTGAAAGCTTCCAAGATGACA 0.418 NA 5 175 0 0 0.001168 0 0 TSHZ3 57616 broad.mit.edu 37 19 31768243 31768243 + Missense_Mutation SNP G G A rs150738892 byFrequency TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:31768243G>A uc002nsy.3 - 2 2521 c.2456C>T c.(2455-2457)TCA>TTA p.S819L NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 819 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) CACCGTGGATGAGGAGGTTGC 0.527 NA 6 72 0 0 0.001984 0 0 TSHZ3 57616 broad.mit.edu 37 19 31769932 31769932 + Missense_Mutation SNP T T G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:31769932T>G uc002nsy.3 - 2 832 c.767A>C c.(766-768)AAG>ACG p.K256T NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 256 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TTTGCGAGGCTTGGACCAGCG 0.562 NA 34 221 0 0 0.021022 0 0 ZFP14 57677 broad.mit.edu 37 19 36832176 36832177 + Missense_Mutation DNP GC GC AA TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:36832176_36832177GC>AA uc002odx.1 - 4 644_645 c.551_552GC>TT c.(550-552)CGC>CTT p.R184L ZFP14_uc010xtd.1_Missense_Mutation_p.R185L|ZFP14_uc010eex.1_Missense_Mutation_p.R184L NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 184 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) TAAGTGTTGAGCGACGAATAAA 0.411 NA 21 135 0 0 0.004672 0 0 IZUMO1 284359 broad.mit.edu 37 19 49246723 49246723 + Nonsense_Mutation SNP G G A rs146399718 TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr19:49246723G>A uc002pkj.2 - 6 1026 c.478C>T c.(478-480)CGA>TGA p.R160* RASIP1_uc002pki.2_5'Flank|IZUMO1_uc010eme.2_RNA|IZUMO1_uc010emf.2_RNA NM_182575 NP_872381 Q8IYV9 IZUM1_HUMAN izumo sperm-egg fusion 1 precursor 160 Extracellular (Potential). fusion of sperm to egg plasma membrane integral to membrane ovary(1) 1 all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022) TAGGACTTTCGACAAGCGTGA 0.557 NA 4 36 0 0 0.014758 0 0 ATAD2B 54454 broad.mit.edu 37 2 24056803 24056803 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:24056803G>C uc002rek.3 - 14 2008 c.1714C>G c.(1714-1716)CTG>GTG p.L572V ATAD2B_uc010yki.1_RNA|ATAD2B_uc002rej.3_5'Flank NM_017552 NP_060022 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 572 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATCAGGCAGGTTGAAGAGG 0.353 NA 5 36 0 0 0.001168 0 0 CRIM1 51232 broad.mit.edu 37 2 36771546 36771546 + Missense_Mutation SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:36771546T>C uc002rpd.2 + 15 2690 c.2651T>C c.(2650-2652)ATA>ACA p.I884T NM_016441 NP_057525 Q9NZV1 CRIM1_HUMAN cysteine-rich motor neuron 1 precursor 884 Extracellular (Potential). nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CCAACCAATATACCCATTGAG 0.438 NA 10 98 0 0 0.006214 0 0 MAP4K3 8491 broad.mit.edu 37 2 39481642 39481642 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:39481642C>T uc002rro.2 - 32 2581 c.2490G>A c.(2488-2490)GTG>GTA p.V830V MAP4K3_uc002rrp.2_Silent_p.V809V|MAP4K3_uc010yns.1_Silent_p.V383V NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 830 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) AGAAAGCTAGCACACTGTCTT 0.358 NA 11 93 0 0 0.016723 0 0 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A A G rs115341812 by1000genomes TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 NA 3 43 0 0 0.009096 0 0 PCDP1 200373 broad.mit.edu 37 2 120395937 120395937 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:120395937G>C uc002tmb.2 + 21 2311 c.1219G>C c.(1219-1221)GAG>CAG p.E407Q NM_001029996 NP_001025167 Q4G0U5 PCDP1_HUMAN primary ciliary dyskinesia protein 1 693 cilium calmodulin binding 0 Colorectal(110;0.196) ATTCACCAAAGAGTCCCGCCA 0.502 NA 7 160 0 0 0.004482 0 0 UBXN4 23190 broad.mit.edu 37 2 136537772 136537773 + Missense_Mutation DNP CC CC TT TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:136537772_136537773CC>TT uc002tur.2 + 12 1516_1517 c.1205_1206CC>TT c.(1204-1206)TCC>TTT p.S402F UBXN4_uc002tus.2_Missense_Mutation_p.S168F|UBXN4_uc002tut.2_Missense_Mutation_p.S38F NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 402 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 CCAACTGCATCCATTGTACACT 0.396 NA 8 118 0 0 0.004672 0 0 SSFA2 6744 broad.mit.edu 37 2 182774637 182774637 + Silent SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:182774637G>A uc002uoi.2 + 9 1747 c.1425G>A c.(1423-1425)ACG>ACA p.T475T SSFA2_uc002uoh.2_Silent_p.T475T|SSFA2_uc002uoj.2_Silent_p.T475T|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Silent_p.T322T|SSFA2_uc002uol.2_Silent_p.T322T NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 475 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) TTCAAAGTACGGAGGGAGAAG 0.373 NA 4 53 0 0 0.014758 0 0 DNAH7 56171 broad.mit.edu 37 2 196729689 196729689 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:196729689G>C uc002utj.3 - 41 6791 c.6690C>G c.(6688-6690)ATC>ATG p.I2230M NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2230 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 GAATGTAGTTGATGAGCCAGC 0.363 NA 4 112 0 0 0.014758 0 0 UGT1A5 54579 broad.mit.edu 37 2 234622444 234622444 + Silent SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr2:234622444C>A uc002vuw.2 + 1 807 c.807C>A c.(805-807)ATC>ATA p.I269I 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_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Silent_p.I269I NM_019078 NP_061951 P35504 UD15_HUMAN UDP glycosyltransferase 1 family, polypeptide A5 269 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(1) 1 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;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) CCAGGCCGATCATGCCCAACA 0.512 NA 41 182 3.76604e-16 4.76293e-16 0.010771 1 0 CBLN4 140689 broad.mit.edu 37 20 54579155 54579155 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr20:54579155C>T uc002xxa.2 - 1 858 c.73G>A c.(73-75)GTC>ATC p.V25I NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 25 cell junction|extracellular region|synapse ovary(3)|pancreas(1) 4 Colorectal(105;0.202) TGTGCCCAGACGGGCAGCCCC 0.721 NA 3 24 0 0 0.004672 0 0 KRTAP21-1 337977 broad.mit.edu 37 21 32127654 32127654 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr21:32127654C>A uc011adi.1 - 1 43 c.43G>T c.(43-45)GGC>TGC p.G15C NM_181619 NP_853650 Q3LI58 KR211_HUMAN keratin associated protein 21-1 15 G -> S (in a breast cancer sample; somatic mutation). intermediate filament p.G15S(1) breast(1) 1 cagccacagccggagccatag 0.189 NA 37 157 3.33393e-15 4.17551e-15 0.021022 1 0 SLC25A18 83733 broad.mit.edu 37 22 18070012 18070012 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr22:18070012C>T uc002zmp.1 + 8 1014 c.520C>T c.(520-522)CTC>TTC p.L174F SLC25A18_uc010gqx.2_Missense_Mutation_p.L174F|SLC25A18_uc002zmq.1_Missense_Mutation_p.L174F NM_031481 NP_113669 Q9H1K4 GHC2_HUMAN solute carrier 174 Solcar 2. integral to membrane|mitochondrial inner membrane binding|symporter activity 0 Lung(27;0.124) L-Glutamic Acid(DB00142) CTGGGAGCTGCTCCGCACTCA 0.662 Colon(118;1560 1625 18964 29606 50093) NA 10 126 0 0 0.008291 0 0 CRYBB1 1414 broad.mit.edu 37 22 27012230 27012230 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr22:27012230C>T uc003acy.1 - 2 124 c.54G>A c.(52-54)GGG>GGA p.G18G NM_001887 NP_001878 P53674 CRBB1_HUMAN crystallin, beta B1 18 N-terminal arm. visual perception structural constituent of eye lens ovary(1) 1 TGGTGTCAGGCCCTGGGTTCA 0.627 NA 13 76 0 0 0.016723 0 0 POLR3H 171568 broad.mit.edu 37 22 41926706 41926706 + Silent SNP A A C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr22:41926706A>C uc003baf.2 - 6 606 c.546T>G c.(544-546)GCT>GCG p.A182A POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Silent_p.A182A|POLR3H_uc003bai.2_Silent_p.A153A NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 182 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 GCGTGTACGGAGCCTCCTTCT 0.627 NA 4 28 0 0 0.009096 0 0 SUSD5 26032 broad.mit.edu 37 3 33195270 33195270 + Missense_Mutation SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:33195270C>G uc003cfo.1 - 5 1272 c.854G>C c.(853-855)GGA>GCA p.G285A NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 285 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 CAGCCGTGATCCTGGTGAATC 0.527 NA 5 64 0 0 0.014758 0 0 ULK4 54986 broad.mit.edu 37 3 41939949 41939949 + Missense_Mutation SNP T T A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:41939949T>A uc003ckv.3 - 14 1524 c.1323A>T c.(1321-1323)AAA>AAT p.K441N ULK4_uc003ckw.2_Missense_Mutation_p.K441N|ULK4_uc003ckx.1_Missense_Mutation_p.K441N NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 441 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) GATGCAATATTTTTGCATCAA 0.289 NA 16 113 0 0 0.007413 0 0 KLHL18 23276 broad.mit.edu 37 3 47385291 47385291 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:47385291G>T uc003crd.2 + 10 1711 c.1585G>T c.(1585-1587)GTT>TTT p.V529F KLHL18_uc011bav.1_Missense_Mutation_p.V417F NM_025010 NP_079286 O94889 KLH18_HUMAN kelch-like 18 529 Kelch 6. 0 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) CCTCTACGCTGTTGGGGGCTA 0.612 NA 17 86 1.15088e-07 1.33751e-07 0.004007 1 0 DAG1 1605 broad.mit.edu 37 3 49568391 49568391 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:49568391C>T uc003cxc.3 + 3 865 c.447C>T c.(445-447)TCC>TCT p.S149S NM_004393 NP_004384 Q14118 DAG1_HUMAN dystroglycan 1 preproprotein 149 Required for laminin recognition. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CCCAGACCTCCAGTGTGTTCT 0.602 NA 8 35 0 0 0.00308 0 0 OR5K2 402135 broad.mit.edu 37 3 98217213 98217213 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:98217213C>A uc011bgx.1 + 1 689 c.689C>A c.(688-690)TCC>TAC p.S230Y NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 230 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 AGAATGAAATCCAAGGAGGGA 0.343 NA 9 100 0.000442599 0.000467994 0.006214 1 0 KPNA1 3836 broad.mit.edu 37 3 122168504 122168504 + Silent SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:122168504G>A uc003efd.1 - 9 870 c.834C>T c.(832-834)CTC>CTT p.L278L KPNA1_uc003efb.1_Silent_p.L77L|KPNA1_uc003efc.1_Silent_p.L77L|KPNA1_uc011bjr.1_Silent_p.L77L|KPNA1_uc010hrh.2_Silent_p.L77L|KPNA1_uc003efe.2_Silent_p.L278L NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 278 Binding to RAG1.|ARM 5. DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) ATAGATATGAGAGGGCCCAGC 0.438 Melanoma(12;340 801 11196 19797) NA 4 60 0 0 0.009096 0 0 KALRN 8997 broad.mit.edu 37 3 124281895 124281895 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:124281895G>C uc003ehg.2 + 34 5262 c.5135G>C c.(5134-5136)CGA>CCA p.R1712P KALRN_uc003ehi.2_Missense_Mutation_p.R85P NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1712 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TCACACTCCCGAAGCAGCGTG 0.647 NA 10 65 0 0 0.008291 0 0 RUVBL1 8607 broad.mit.edu 37 3 127816180 127816180 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:127816180C>T uc003ekh.2 - 8 1083 c.979G>A c.(979-981)GTC>ATC p.V327I RUVBL1_uc003eke.2_Missense_Mutation_p.V68I|RUVBL1_uc003ekf.2_Missense_Mutation_p.V267I|RUVBL1_uc010hss.2_Missense_Mutation_p.V327I NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 327 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) GCAAAGATGACGATGGGAGCG 0.542 NA 8 26 0 0 0.00308 0 0 MCCC1 56922 broad.mit.edu 37 3 182743552 182743552 + Silent SNP A A G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr3:182743552A>G uc003fle.2 - 15 1859 c.1722T>C c.(1720-1722)TAT>TAC p.Y574Y MCCC1_uc010hxi.2_RNA|MCCC1_uc011bqo.1_Intron|MCCC1_uc003flf.2_Silent_p.Y457Y|MCCC1_uc003flg.2_Silent_p.Y465Y|MCCC1_uc011bqp.1_Silent_p.Y527Y NM_020166 NP_064551 Q96RQ3 MCCA_HUMAN methylcrotonoyl-Coenzyme A carboxylase 1 (alpha) 574 biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CCTGCATGCTATAAGACCCAT 0.368 NA 6 69 0 0 0.001984 0 0 ADD1 118 broad.mit.edu 37 4 2886264 2886264 + Silent SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr4:2886264G>C uc003gfr.2 + 4 569 c.381G>C c.(379-381)GTG>GTC p.V127V ADD1_uc003gfn.2_Intron|ADD1_uc010ico.1_Silent_p.V127V|ADD1_uc003gfo.2_Silent_p.V127V|ADD1_uc003gfp.2_Silent_p.V127V|ADD1_uc003gfq.2_Silent_p.V127V|ADD1_uc003gfs.2_Silent_p.V127V|ADD1_uc003gft.3_Silent_p.V127V|ADD1_uc003gfu.2_5'Flank NM_001119 NP_001110 P35611 ADDA_HUMAN adducin 1 (alpha) isoform a 127 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TGACTCCTGTGAACGATCTTA 0.284 Esophageal Squamous(71;505 1201 20414 34538 37449) NA 9 197 0 0 0.006214 0 0 EPHA5 2044 broad.mit.edu 37 4 66270177 66270177 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr4:66270177G>T uc003hcy.2 - 8 1898 c.1705C>A c.(1705-1707)CAA>AAA p.Q569K EPHA5_uc003hcx.2_Missense_Mutation_p.Q501K|EPHA5_uc003hcz.2_Missense_Mutation_p.Q569K|EPHA5_uc011cah.1_Missense_Mutation_p.Q570K|EPHA5_uc011cai.1_Missense_Mutation_p.Q570K|EPHA5_uc003hda.2_Missense_Mutation_p.Q570K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 569 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 ATCTGGCTTTGATCGCTGGAT 0.438 NA TSP Lung(17;0.13) 10 48 6.40141e-05 6.99815e-05 0.010729 1 0 FRAS1 80144 broad.mit.edu 37 4 79460483 79460483 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr4:79460483C>T uc003hlb.2 + 73 11774 c.11334C>T c.(11332-11334)TTC>TTT p.F3778F NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3773 Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 ATAAGTACTTCCATGATGTGC 0.423 NA 4 105 0 0 0.009096 0 0 MMRN1 22915 broad.mit.edu 37 4 90856622 90856622 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr4:90856622C>T uc003hst.2 + 6 1862 c.1791C>T c.(1789-1791)TCC>TCT p.S597S MMRN1_uc010iku.2_Intron|MMRN1_uc011cds.1_Silent_p.S339S NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 597 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) ACATGTTATCCAAATGCAGAA 0.348 NA 7 76 0 0 0.001984 0 0 TACR3 6870 broad.mit.edu 37 4 104512727 104512727 + Silent SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr4:104512727G>A uc003hxe.1 - 4 1145 c.1002C>T c.(1000-1002)ATC>ATT p.I334I NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 334 Extracellular (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) AGACCTGCTGGATGTATTTCC 0.393 NA 17 75 0 0 0.00499 0 0 PDE5A 8654 broad.mit.edu 37 4 120446753 120446753 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr4:120446753C>T uc003idh.2 - 12 1885 c.1730G>A c.(1729-1731)CGG>CAG p.R577Q uc003ide.3_Intron|PDE5A_uc003idf.2_Missense_Mutation_p.R535Q|PDE5A_uc003idg.2_Missense_Mutation_p.R525Q|uc003idi.3_Intron NM_001083 NP_001074 O76074 PDE5A_HUMAN phosphodiesterase 5A isoform 1 577 platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding 0 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) AGTAAACATCCGAATTGTACA 0.443 NA 17 73 0 0 0.007413 0 0 BDP1 55814 broad.mit.edu 37 5 70818760 70818760 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr5:70818760C>T uc003kbp.1 + 24 5634 c.5371C>T c.(5371-5373)CTC>TTC p.L1791F BDP1_uc003kbo.2_Missense_Mutation_p.L1791F|BDP1_uc003kbq.1_RNA NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1791 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGAGCAATATCTCAATAAACT 0.303 NA 3 47 0 0 0.004672 0 0 CAST 831 broad.mit.edu 37 5 96011290 96011290 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr5:96011290G>C uc003klu.2 + 2 309 c.123G>C c.(121-123)AAG>AAC p.K41N CAST_uc003klt.2_5'UTR|CAST_uc003klv.2_Missense_Mutation_p.K41N|CAST_uc003klw.2_Missense_Mutation_p.K41N|CAST_uc003klx.2_Missense_Mutation_p.K41N|CAST_uc003kly.2_Missense_Mutation_p.K41N|CAST_uc011cuo.1_Missense_Mutation_p.K26N NM_001750 NP_001741 P20810 ICAL_HUMAN calpastatin isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding central_nervous_system(3)|ovary(1)|kidney(1) 5 all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;6.85e-15) CAGGAGAAAAGAAAGGATCAG 0.338 NA 5 74 0 0 0.001168 0 0 RAPGEF6 51735 broad.mit.edu 37 5 130840380 130840380 + Missense_Mutation SNP A A G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr5:130840380A>G uc003kvn.1 - 11 1399 c.1193T>C c.(1192-1194)ATG>ACG p.M398T RAPGEF6_uc003kvp.1_Missense_Mutation_p.M448T|RAPGEF6_uc003kvo.1_Missense_Mutation_p.M398T|RAPGEF6_uc010jdi.1_Missense_Mutation_p.M398T|RAPGEF6_uc010jdj.1_Missense_Mutation_p.M398T|RAPGEF6_uc003kvq.2_Missense_Mutation_p.M115T|RAPGEF6_uc003kvr.2_Missense_Mutation_p.M398T|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.M398T NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 398 cNMP. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) CTCATGTACCATAACAATTTC 0.393 Melanoma(168;435 1955 13113 13877 23213) NA 12 121 0 0 0.020292 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140720584 140720584 + Silent SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr5:140720584C>A uc003ljk.1 + 1 2231 c.2046C>A c.(2044-2046)GCC>GCA p.A682A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.A682A NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 682 Extracellular (Potential).|Cadherin 6. 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) AGCCCTCCGCCATACCCAACG 0.682 NA 8 190 0.00621372 0.00631157 0.006214 1 0 PCDHGB5 56101 broad.mit.edu 37 5 140778463 140778463 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr5:140778463C>A uc003lkf.1 + 1 769 c.769C>A c.(769-771)CCA>ACA p.P257T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Missense_Mutation_p.P257T NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 257 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAACGTGCCACCAGGCACCAC 0.522 NA 16 99 1.3612e-06 1.54031e-06 0.003163 1 0 ADRA1B 147 broad.mit.edu 37 5 159344154 159344154 + Missense_Mutation SNP A A G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr5:159344154A>G uc003lxt.1 + 1 415 c.242A>G c.(241-243)AAC>AGC p.N81S NM_000679 NP_000670 P35368 ADA1B_HUMAN alpha-1B-adrenergic receptor 81 Cytoplasmic (By similarity). cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity lung(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) ACGCCCACCAACTACTTCATT 0.622 NA 8 137 0 0 0.004482 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7988181 7988181 + Missense_Mutation SNP A A C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:7988181A>C uc003mxx.3 + 1 1847 c.1412A>C c.(1411-1413)TAC>TCC p.Y471S TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 TGCATTACTTACCAGCCATTG 0.473 NA 9 39 0 0 0.016723 0 0 GPX6 257202 broad.mit.edu 37 6 28473575 28473575 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:28473575C>A uc011dlj.1 - 5 414 c.364G>T c.(364-366)GTG>TTG p.V122L GPX6_uc010jrg.1_Intron NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 122 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) CCTGGACACACATACCTGCAG 0.433 NA 7 93 8.12818e-05 8.7378e-05 0.001984 1 0 C6orf47 57827 broad.mit.edu 37 6 31626938 31626938 + Missense_Mutation SNP G G A rs114079572 byFrequency TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:31626938G>A uc003nvm.1 - 1 1612 c.787C>T c.(787-789)CGG>TGG p.R263W NM_021184 NP_067007 O95873 CF047_HUMAN G4 protein 263 ovary(1) 1 TTGGGCTCCCGGAGGCTGACA 0.632 NA 8 156 0 0 0.004482 0 0 COL11A2 1302 broad.mit.edu 37 6 33144245 33144245 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:33144245C>T uc003ocx.1 - 27 2362 c.2134G>A c.(2134-2136)GGA>AGA p.G712R COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G626R|COL11A2_uc003ocz.1_Missense_Mutation_p.G605R NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 712 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CCTAGAGGTCCCTGAGGTCCA 0.557 Melanoma(1;90 116 3946 5341 17093) NA 4 38 0 0 0.009096 0 0 KIAA0240 23506 broad.mit.edu 37 6 42832802 42832802 + Missense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:42832802G>A uc003osn.1 + 13 3009 c.2858G>A c.(2857-2859)AGC>AAC p.S953N KIAA0240_uc011duw.1_Missense_Mutation_p.S953N|KIAA0240_uc003osp.1_Missense_Mutation_p.S953N NM_015349 NP_056164 Q6AI39 K0240_HUMAN hypothetical protein LOC23506 953 ovary(1) 1 Colorectal(47;0.196) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00524)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.104) GGTACTGAGAGCAAACTGTCA 0.512 NA 5 69 0 0 0.001984 0 0 CUL9 23113 broad.mit.edu 37 6 43191089 43191089 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:43191089G>T uc003ouk.2 + 39 7313 c.7238G>T c.(7237-7239)CGG>CTG p.R2413L CUL9_uc003oul.2_Missense_Mutation_p.R2385L|CUL9_uc010jyk.2_Missense_Mutation_p.R1565L|CUL9_uc003oun.2_Missense_Mutation_p.R208L NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 2413 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 GAGCTGCTCCGGCGGATCCAG 0.677 NA 3 6 0.004672 0.00478324 0.004672 1 0 EFHC1 114327 broad.mit.edu 37 6 52288786 52288786 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:52288786G>T uc003pap.3 + 2 321 c.106G>T c.(106-108)GGC>TGC p.G36C EFHC1_uc011dwv.1_5'UTR|EFHC1_uc011dww.1_Missense_Mutation_p.G17C NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 36 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) CTACAGGAACGGCTATGCAAT 0.463 NA 37 93 6.19805e-25 7.99549e-25 0.005524 1 0 AHI1 54806 broad.mit.edu 37 6 135784313 135784313 + Missense_Mutation SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr6:135784313T>C uc003qgi.2 - 8 1265 c.881A>G c.(880-882)CAA>CGA p.Q294R AHI1_uc003qgh.2_Missense_Mutation_p.Q294R|AHI1_uc003qgj.2_Missense_Mutation_p.Q294R|AHI1_uc003qgk.3_RNA|AHI1_uc003qgl.3_Missense_Mutation_p.Q294R NM_001134831 NP_001128303 Q8N157 AHI1_HUMAN Abelson helper integration site 1 isoform a 294 adherens junction|cilium|microtubule basal body ovary(1)|kidney(1)|central_nervous_system(1) 3 Breast(56;0.239)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991) TGTATCATCTTGCATGCTGTC 0.313 NA 3 45 0 0 0.014758 0 0 BMPER 168667 broad.mit.edu 37 7 34085929 34085929 + Silent SNP A A T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:34085929A>T uc011kap.1 + 7 702 c.588A>T c.(586-588)ACA>ACT p.T196T NM_133468 NP_597725 Q8N8U9 BMPER_HUMAN BMP-binding endothelial regulator precursor 196 VWFC 3. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space ovary(2)|central_nervous_system(1) 3 GAGGCAGGACACAATGTGTGA 0.438 NA 17 128 0 0 0.00499 0 0 ZNF735 730291 broad.mit.edu 37 7 63680605 63680605 + Nonsense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:63680605G>A uc011kdn.1 + 4 1176 c.1176G>A c.(1174-1176)TGG>TGA p.W392* NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 392 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTTAAGTGGCATTCAAGTC 0.373 NA 3 17 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82585054 82585054 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:82585054C>T uc003uhx.2 - 5 5504 c.5215G>A c.(5215-5217)GAG>AAG p.E1739K PCLO_uc003uhv.2_Missense_Mutation_p.E1739K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1670 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TCACTGTCCTCATCAAGTGAT 0.498 NA 12 157 0 0 0.010729 0 0 STEAP1 26872 broad.mit.edu 37 7 89790341 89790341 + Missense_Mutation SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:89790341C>G uc003ujx.2 + 3 507 c.307C>G c.(307-309)CAA>GAA p.Q103E STEAP1_uc010lem.2_Missense_Mutation_p.Q103E NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the 103 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 all_hematologic(106;0.112) AACTTCCCATCAACAATATTT 0.393 NA 8 85 0 0 0.00308 0 0 STAG3 10734 broad.mit.edu 37 7 99798718 99798718 + Silent SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:99798718C>A uc003utx.1 + 20 2222 c.2067C>A c.(2065-2067)TCC>TCA p.S689S STAG3_uc010lgs.1_Silent_p.S477S|STAG3_uc011kjk.1_Silent_p.S631S|GATS_uc003uty.3_RNA|GATS_uc003utz.3_RNA|GATS_uc003uua.3_3'UTR|GATS_uc010lgt.2_RNA|STAG3_uc003uub.1_5'UTR NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 689 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CTCAGTCGTCCTTCCTAGATG 0.517 NA 10 48 6.40141e-05 6.99815e-05 0.010729 1 0 CUX1 1523 broad.mit.edu 37 7 101833099 101833099 + Nonsense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:101833099G>T uc003uyx.3 + 12 1062 c.1024G>T c.(1024-1026)GAA>TAA p.E342* CUX1_uc003uys.3_Nonsense_Mutation_p.E353*|CUX1_uc003uyt.2_Nonsense_Mutation_p.E353*|CUX1_uc011kkn.1_Nonsense_Mutation_p.E314*|CUX1_uc003uyw.2_Nonsense_Mutation_p.E307*|CUX1_uc003uyv.2_Nonsense_Mutation_p.E337*|CUX1_uc003uyu.2_Nonsense_Mutation_p.E351* NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 342 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 TCAGCAACTGGAAGAAAAACT 0.537 NA 10 35 3.07112e-06 3.44499e-06 0.010729 1 0 TRPV5 56302 broad.mit.edu 37 7 142625896 142625896 + Missense_Mutation SNP G G T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:142625896G>T uc003wby.1 - 6 916 c.652C>A c.(652-654)CTG>ATG p.L218M TRPV5_uc003wbz.2_Missense_Mutation_p.L218M NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 218 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) GACAGCAGCAGGTTGTACATC 0.582 NA 13 74 4.36969e-10 5.36848e-10 0.016723 1 0 MLL3 58508 broad.mit.edu 37 7 151944996 151944996 + Silent SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:151944996C>G uc003wla.2 - 14 2742 c.2523G>C c.(2521-2523)CGG>CGC p.R841R NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 841 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CCTGTTTGGACCGAGGTCTAC 0.378 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 7 290 0 0 0.001984 0 0 CSMD1 64478 broad.mit.edu 37 8 2944663 2944663 + Missense_Mutation SNP G G C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr8:2944663G>C uc011kwk.1 - 49 7823 c.7433C>G c.(7432-7434)CCA>CGA p.P2478R CSMD1_uc011kwj.1_Missense_Mutation_p.P1807R|CSMD1_uc010lrg.2_Missense_Mutation_p.P546R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2478 Sushi 14.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATGCCAAGTGGGTTTCGTCT 0.498 NA 7 60 0 0 0.001984 0 0 CSMD3 114788 broad.mit.edu 37 8 113314076 113314076 + Missense_Mutation SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr8:113314076C>G uc003ynu.2 - 53 8545 c.8386G>C c.(8386-8388)GTA>CTA p.V2796L CSMD3_uc003yns.2_Missense_Mutation_p.V1998L|CSMD3_uc003ynt.2_Missense_Mutation_p.V2756L|CSMD3_uc011lhx.1_Missense_Mutation_p.V2627L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 2796 Extracellular (Potential).|Sushi 17. 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 CATTCCCTTACAGCAGAGCCC 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 79 0 0 0.016723 0 0 EFR3A 23167 broad.mit.edu 37 8 132998476 132998476 + Silent SNP T T C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr8:132998476T>C uc003yte.2 + 17 2106 c.1905T>C c.(1903-1905)TTT>TTC p.F635F NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 635 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) CCCCTTATTTTCTACCAGAGC 0.313 NA 4 27 0 0 0.001168 0 0 KANK1 23189 broad.mit.edu 37 9 730172 730172 + Silent SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr9:730172G>A uc003zgl.1 + 8 3469 c.2820G>A c.(2818-2820)CTG>CTA p.L940L KANK1_uc003zgm.2_Silent_p.L940L|KANK1_uc003zgn.1_Silent_p.L940L|KANK1_uc003zgs.1_Silent_p.L782L|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank NM_015158 NP_055973 Q14678 KANK1_HUMAN KN motif and ankyrin repeat domains 1 isoform a 940 negative regulation of actin filament polymerization cytoplasm ovary(2)|central_nervous_system(1)|pancreas(1) 4 Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128) Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222) TCAGCAGCCTGGATGCCTTCC 0.552 NA 4 47 0 0 0.009096 0 0 PLAA 9373 broad.mit.edu 37 9 26926558 26926558 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr9:26926558C>A uc003zqd.2 - 5 991 c.566G>T c.(565-567)GGG>GTG p.G189V PLAA_uc003zqe.2_Missense_Mutation_p.G189V NM_001031689 NP_001026859 Q9Y263 PLAP_HUMAN phospholipase A2-activating protein 189 phospholipid metabolic process|signal transduction phospholipase A2 activator activity 0 all_neural(3;3.53e-10)|Glioma(3;2.71e-09) Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011) GTCTTCATGCCCTGCATTAAA 0.338 Melanoma(175;2670 2735 14091 35526) NA 8 50 1.06961e-07 1.25436e-07 0.00308 1 0 KIF27 55582 broad.mit.edu 37 9 86504081 86504081 + Missense_Mutation SNP C C G TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr9:86504081C>G uc004ana.2 - 7 2041 c.1897G>C c.(1897-1899)GAA>CAA p.E633Q KIF27_uc010mpw.2_Missense_Mutation_p.E633Q|KIF27_uc010mpx.2_Missense_Mutation_p.E633Q NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 633 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TTATCTTGTTCTTCTATGTGA 0.413 NA 10 161 0 0 0.006214 0 0 ATP6V1G1 9550 broad.mit.edu 37 9 117359867 117359867 + Silent SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr9:117359867C>T uc004bjc.2 + 3 326 c.201C>T c.(199-201)GGC>GGT p.G67G NM_004888 NP_004879 O75348 VATG1_HUMAN vacuolar H+ ATPase G1 67 cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances 0 GATCCCGTGGCAGTTGCAGCA 0.512 NA 7 65 0 0 0.001984 0 0 ZFX 7543 broad.mit.edu 37 X 24228777 24228777 + Nonsense_Mutation SNP A A T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chrX:24228777A>T uc004dbf.2 + 9 1960 c.1702A>T c.(1702-1704)AGA>TGA p.R568* ZFX_uc004dbe.2_3'UTR|ZFX_uc011mjv.1_Nonsense_Mutation_p.R607*|ZFX_uc010nfz.2_Nonsense_Mutation_p.R224* NM_003410 NP_003401 P17010 ZFX_HUMAN zinc finger protein, X-linked 568 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(2) 2 AAAGCACATGAGAATCCATAC 0.458 Esophageal Squamous(20;306 562 7346 32868 37983) NA 15 63 0 0 0.00499 0 0 ITIH5L 347365 broad.mit.edu 37 X 54785155 54785155 + Missense_Mutation SNP C C A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chrX:54785155C>A uc004dtj.2 - 8 1382 c.1352G>T c.(1351-1353)CGC>CTC p.R451L NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 451 VWFA. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 CTCATATATGCGCCGGGCTAT 0.577 NA 4 11 0.00909568 0.00916674 0.009096 1 0 MORC4 79710 broad.mit.edu 37 X 106198242 106198242 + Missense_Mutation SNP C C T TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chrX:106198242C>T uc004emu.3 - 14 1829 c.1586G>A c.(1585-1587)GGA>GAA p.G529E MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.G529E|MORC4_uc004emw.3_Missense_Mutation_p.G277E NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 529 ATP binding|zinc ion binding ovary(1) 1 GCTATGAATTCCCTCATATCC 0.393 NA 26 63 0 0 0.01892 0 0 DOCK11 139818 broad.mit.edu 37 X 117712548 117712548 + Missense_Mutation SNP G G A TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chrX:117712548G>A uc004eqp.2 + 13 1513 c.1450G>A c.(1450-1452)GTA>ATA p.V484I DOCK11_uc004eqq.2_Missense_Mutation_p.V250I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 484 blood coagulation cytosol GTP binding ovary(3) 3 AATTGAAAAGGTACTACAGGG 0.348 NA 4 53 0 0 0.009096 0 0 ARNT 405 broad.mit.edu 37 1 150789322 150789326 + Frame_Shift_Del DEL GTTGG GTTGG - TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 GTTGG GTTGG - - GTTGG GTTGG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr1:150789322_150789326delGTTGG uc001evr.1 - 18 1883_1887 c.1740_1744delCCAAC c.(1738-1746)ACCCAACAGfs p.T580fs ARNT_uc010pck.1_Frame_Shift_Del_p.T69fs|ARNT_uc001evs.1_Frame_Shift_Del_p.T565fs|ARNT_uc009wmb.1_Frame_Shift_Del_p.T566fs|ARNT_uc009wmc.1_Frame_Shift_Del_p.T580fs|ARNT_uc009wmd.1_Frame_Shift_Del_p.T565fs NM_001668 NP_001659 P27540 ARNT_HUMAN aryl hydrocarbon receptor nuclear translocator 580_582 positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity skin(4)|lung(3)|central_nervous_system(1)|kidney(1) 9 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211) GAGAATAGCTGTTGGGTGGCAGGGA 0.556 NA T ETV6 AML 18 87 --- --- --- --- NA NA NA NA NA STK31 56164 broad.mit.edu 37 7 23775275 23775275 + Frame_Shift_Del DEL A A - TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:23775275delA uc003sws.3 + 7 669 c.602delA c.(601-603)GAAfs p.E201fs STK31_uc003swt.3_Frame_Shift_Del_p.E178fs|STK31_uc011jze.1_Frame_Shift_Del_p.E201fs|STK31_uc010kuq.2_Frame_Shift_Del_p.E178fs NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 201 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 GATATAGGGGAAGAGGTGCTT 0.398 NA 23 116 --- --- --- --- NA NA NA NA NA GRB10 2887 broad.mit.edu 37 7 50737429 50737430 + Frame_Shift_Ins INS - - C TCGA-78-7162-01A-21D-2063-08 TCGA-78-7162-11A-01D-2063-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq ac2c5bb2-ead3-4bd7-b0e5-d9eae2dc0577 d600b5f9-7e31-43c9-99f6-4909c035211c g.chr7:50737429_50737430insC uc003tpi.2 - 4 524_525 c.493_494insG c.(493-495)GCCfs p.A165fs GRB10_uc003tph.3_Frame_Shift_Ins_p.A107fs|GRB10_uc003tpj.2_Frame_Shift_Ins_p.A165fs|GRB10_uc003tpk.2_Frame_Shift_Ins_p.A165fs|GRB10_uc010kzb.2_Frame_Shift_Ins_p.A107fs|GRB10_uc003tpl.2_Frame_Shift_Ins_p.A159fs|GRB10_uc003tpm.2_Frame_Shift_Ins_p.A107fs|GRB10_uc003tpn.2_Frame_Shift_Ins_p.A107fs NM_005311 NP_005302 Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 isoform 165 insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity lung(3)|ovary(2)|upper_aerodigestive_tract(1) 6 Glioma(55;0.08)|all_neural(89;0.245) CTGCTTTGCGGCGGCCTGGCTC 0.584 NA Russell-Silver_syndrome 7 30 --- --- --- --- NA NA NA NA NA