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 MMEL1 79258 broad.mit.edu 37 1 2524404 2524404 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:2524404G>T uc001ajy.2 - 20 2083 c.1869C>A c.(1867-1869)GGC>GGA p.G623G MMEL1_uc009vlg.1_RNA NM_033467 NP_258428 Q495T6 MMEL1_HUMAN membrane metallo-endopeptidase-like 1 623 Lumenal (Potential). proteolysis extracellular region|integral to membrane|intracellular membrane-bounded organelle metal ion binding|metalloendopeptidase activity 0 all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131) CGAAGTTCCGGCCTGGGCAGG 0.632 NA 9 66 0.00185496 0.00224548 0.001855 1 0 PHF13 148479 broad.mit.edu 37 1 6680330 6680331 + Nonsense_Mutation DNP GG GG TT TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:6680330_6680331GG>TT uc001aob.3 + 3 980_981 c.609_610GG>TT c.(607-612)CAGGGA>CATTGA p.203_204QG>H* NM_153812 NP_722519 Q86YI8 PHF13_HUMAN PHD finger protein 13 203_204 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) TCGTCCGGCAGGGAAAGCAGGT 0.525 NA 4 43 0 0 0.004672 0 0 PRAMEF6 440561 broad.mit.edu 37 1 13001343 13001343 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:13001343T>C uc001auq.2 - 3 426 c.340A>G c.(340-342)ATG>GTG p.M114V PRAMEF5_uc001aur.2_Intron NM_001010889 NP_001010889 Q5VXH4 PRAM6_HUMAN PRAME family member 6 114 0 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GACCAAACCATCCAGAAGTTC 0.483 NA 27 385 0 0 0.00361 0 0 HSPB7 27129 broad.mit.edu 37 1 16342123 16342123 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:16342123C>A uc001axo.2 - 3 1292 c.465G>T c.(463-465)CCG>CCT p.P155P HSPB7_uc001axp.2_Silent_p.P238P|HSPB7_uc001axq.2_Silent_p.P247P|HSPB7_uc001axr.2_Silent_p.P248P|HSPB7_uc001axs.2_Silent_p.P230P NM_014424 NP_055239 Q9UBY9 HSPB7_HUMAN cardiovascular heat shock protein 155 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding 0 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) GTTCTGTATGCGGGTGACGCC 0.652 NA 19 32 8.34094e-07 1.17797e-06 0.008871 1 0 EPHA8 2046 broad.mit.edu 37 1 22920043 22920043 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:22920043C>A uc001bfx.1 + 7 1592 c.1467C>A c.(1465-1467)ACC>ACA p.T489T NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 489 Extracellular (Potential).|Fibronectin type-III 2. integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCTACTCCACCCTCAAGGCCG 0.697 NA 7 23 2.7689e-08 4.25916e-08 0.001984 1 0 RCAN3 11123 broad.mit.edu 37 1 24840900 24840900 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:24840900A>T uc001bjj.2 + 2 351 c.38A>T c.(37-39)CAG>CTG p.Q13L RCAN3_uc009vrd.2_Missense_Mutation_p.Q13L|RCAN3_uc009vre.2_Missense_Mutation_p.Q13L|RCAN3_uc009vrf.2_Missense_Mutation_p.Q13L|RCAN3_uc009vrg.2_Missense_Mutation_p.Q13L NM_013441 NP_038469 Q9UKA8 RCAN3_HUMAN Down syndrome critical region gene 1-like 2 13 anatomical structure morphogenesis|calcium-mediated signaling nucleotide binding|RNA binding|troponin I binding 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14) AATGATAGCCAGTCAGATCTG 0.428 NA 12 76 0 0 0.00245 0 0 LAPTM5 7805 broad.mit.edu 37 1 31230519 31230519 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:31230519G>T uc001bsc.2 - 1 165 c.74C>A c.(73-75)GCC>GAC p.A25D NM_006762 NP_006753 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 25 Helical; (Potential). transport integral to plasma membrane|lysosomal membrane 0 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) ATGGTAGATGGCCAGGGCGGT 0.632 NA 11 59 0.00829132 0.00981546 0.008291 1 0 PODN 127435 broad.mit.edu 37 1 53542969 53542969 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:53542969G>T uc001cuv.2 + 6 840 c.833G>T c.(832-834)CGC>CTC p.R278L PODN_uc001cuw.2_Missense_Mutation_p.R259L|PODN_uc010onr.1_Missense_Mutation_p.R259L|PODN_uc010ons.1_Intron NM_153703 NP_714914 Q7Z5L7 PODN_HUMAN podocan 230 LRR 6. negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding p.R278H(1) ovary(1)|pancreas(1) 2 AACTTCCTGCGCCACGTGCCC 0.637 NA 27 147 8.24728e-16 1.60623e-15 0.004656 1 0 C1orf87 127795 broad.mit.edu 37 1 60505798 60505798 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:60505798G>A uc001czs.1 - 5 630 c.538C>T c.(538-540)CTG>TTG p.L180L NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 180 calcium ion binding ovary(1)|breast(1) 2 CTTCTGACCAGGGCAAGAAGA 0.433 NSCLC(75;811 1386 4923 13371 51772) NA 36 123 0 0 0.005524 0 0 INADL 10207 broad.mit.edu 37 1 62626589 62626589 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:62626589G>T uc001dab.2 + 43 5502 c.5388G>T c.(5386-5388)CTG>CTT p.L1796L INADL_uc001dac.2_RNA|INADL_uc009wag.2_Intron NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1796 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 GGGAGCAGCTGCAGATGACGG 0.408 NA 16 66 1.67942e-08 2.59986e-08 0.006122 1 0 LPHN2 23266 broad.mit.edu 37 1 82432281 82432281 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:82432281G>T uc001dit.3 + 12 2467 c.2286G>T c.(2284-2286)CTG>CTT p.L762L LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.L762L|LPHN2_uc001div.2_Silent_p.L762L|LPHN2_uc009wcd.2_Silent_p.L762L|LPHN2_uc001diw.2_Silent_p.L346L NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 775 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) TTTTTACCCTGCCACACATTG 0.418 NA 24 141 2.32416e-17 4.73657e-17 0.002299 1 0 BTBD8 284697 broad.mit.edu 37 1 92554451 92554451 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:92554451C>T uc001doo.2 + 2 613 c.346C>T c.(346-348)CAG>TAG p.Q116* BTBD8_uc010otc.1_RNA NM_183242 NP_899065 Q5XKL5 BTBD8_HUMAN BTB (POZ) domain containing 8 116 BTB 1. nucleus ovary(1) 1 all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222) all cancers(265;0.0153)|Epithelial(280;0.0982) AACGTTTTTACAGTAAGTGCT 0.274 NA 7 49 0 0 0.001984 0 0 CHI3L2 1117 broad.mit.edu 37 1 111773424 111773424 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:111773424G>A uc001eam.2 + 3 202 c.131G>A c.(130-132)GGA>GAA p.G44E CHI3L2_uc001ean.2_Missense_Mutation_p.G34E|CHI3L2_uc001eao.2_5'UTR|CHI3L2_uc009wga.2_5'UTR NM_004000 NP_003991 Q15782 CH3L2_HUMAN chitinase 3-like 2 isoform a 44 chitin catabolic process extracellular space cation binding|chitinase activity central_nervous_system(1) 1 all_cancers(81;1.89e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359) Lung(183;0.0171)|Colorectal(144;0.0387)|all cancers(265;0.0464)|LUSC - Lung squamous cell carcinoma(189;0.0872)|Epithelial(280;0.0994)|COAD - Colon adenocarcinoma(174;0.141) CAGGAACCAGGAAAATTCACC 0.478 NA 13 52 0 0 0.001855 0 0 ANKRD34A 284615 broad.mit.edu 37 1 145473875 145473875 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:145473875T>A uc001enq.1 + 4 1840 c.547T>A c.(547-549)TCG>ACG p.S183T NBPF10_uc001emp.3_Intron NM_001039888 NP_001034977 Q69YU3 AN34A_HUMAN ankyrin repeat domain 34 183 0 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GTTCTGCACGTCGCCTTCGGA 0.612 NA 21 99 0 0 0.001882 0 0 FLG 2312 broad.mit.edu 37 1 152283761 152283761 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:152283761G>T uc001ezu.1 - 3 3637 c.3601C>A c.(3601-3603)CAG>AAG p.Q1201K uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1201 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACCTTCCCTGGGATGTGGTG 0.567 NA Ichthyosis 146 550 1.25085e-53 2.90463e-53 0.00361 1 0 LCE2C 353140 broad.mit.edu 37 1 152648743 152648743 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:152648743C>A uc001fah.2 + 2 307 c.252C>A c.(250-252)CGC>CGA p.R84R NM_178429 NP_848516 Q5TA81 LCE2C_HUMAN late cornified envelope 2C 84 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) TCCACCGGCGCCGGCACCAGA 0.682 NA 28 95 7.41945e-09 1.15228e-08 0.005443 1 0 IL6R 3570 broad.mit.edu 37 1 154422457 154422457 + Splice_Site SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:154422457G>A uc001fez.1 + 8 1503 c.1066_splice c.e8+1 p.V356_splice IL6R_uc001ffa.1_Splice_Site_p.G356_splice NM_000565 NP_000556 P08887 IL6RA_HUMAN interleukin 6 receptor isoform 1 precursor acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity ovary(3)|breast(1) 4 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) AGCCTCCCAGGTAAGGACTGG 0.433 NA 4 83 0 0 0.000248 0 0 RXRG 6258 broad.mit.edu 37 1 165370562 165370562 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:165370562C>A uc001gda.2 - 10 1630 c.1330G>T c.(1330-1332)GGG>TGG p.G444W NM_006917 NP_008848 P48443 RXRG_HUMAN retinoid X receptor, gamma isoform a 444 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding 0 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755) GGGGTGTCCCCGATGAGCTTG 0.602 NA 41 114 4.01765e-15 7.63987e-15 0.002222 1 0 F5 2153 broad.mit.edu 37 1 169510755 169510755 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:169510755G>T uc001ggg.1 - 13 3718 c.3573C>A c.(3571-3573)AGC>AGA p.S1191R NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1191 2-1.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) GGGTCACCTGGCTGAGGTCTG 0.512 NA 102 313 8.27256e-43 1.91179e-42 0.00361 1 0 TNN 63923 broad.mit.edu 37 1 175096160 175096160 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:175096160C>A uc001gkl.1 + 13 3097 c.2984C>A c.(2983-2985)CCC>CAC p.P995H NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 995 Fibronectin type-III 9. 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) ACCTGGACGCCCCCCTCTGCT 0.502 NA 13 124 7.03913e-09 1.09674e-08 0.001368 1 0 ASTN1 460 broad.mit.edu 37 1 176915238 176915238 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:176915238C>A uc001glc.2 - 13 2285 c.2073G>T c.(2071-2073)AAG>AAT p.K691N ASTN1_uc001glb.1_Missense_Mutation_p.K691N|ASTN1_uc001gld.1_Missense_Mutation_p.K691N|ASTN1_uc009wwx.1_Missense_Mutation_p.K691N NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 699 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CCACACCAAGCTTGTAGTCCT 0.517 NA 20 97 0.00121646 0.00148372 0.008871 1 0 FAM5C 339479 broad.mit.edu 37 1 190068080 190068080 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:190068080G>C uc001gse.1 - 8 1601 c.1369C>G c.(1369-1371)CGC>GGC p.R457G FAM5C_uc010pot.1_Missense_Mutation_p.R355G NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 457 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) CAGCGGGTGCGGTTGTCTGGT 0.622 NA 24 113 0 0 0.002299 0 0 CR1 1378 broad.mit.edu 37 1 207739213 207739213 + Silent SNP T T C rs56229517 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:207739213T>C uc001hfy.2 + 16 2687 c.2547T>C c.(2545-2547)TAT>TAC p.Y849Y CR1_uc009xcl.1_Intron|CR1_uc001hfx.2_Silent_p.Y1299Y|CR1_uc009xck.1_Intron NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 849 Extracellular (Potential).|Sushi 13. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 CTGCTAGTTATTGTGTCTTGG 0.423 NA 13 166 0 0 0.001855 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220406195 220406195 + Silent SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:220406195T>C uc010puk.1 - 2 290 c.126A>G c.(124-126)ACA>ACG p.T42T RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Silent_p.T42T NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 42 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) CTTCCCAGTCTGTTGATTTAC 0.338 NA 13 94 0 0 0.001855 0 0 TAF1A 9015 broad.mit.edu 37 1 222736579 222736579 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:222736579C>A uc009xdz.1 - 9 1210 c.1021G>T c.(1021-1023)GGA>TGA p.G341* TAF1A_uc009xdy.1_Nonsense_Mutation_p.G32*|TAF1A_uc001hni.1_Nonsense_Mutation_p.G227*|TAF1A_uc001hnj.2_Nonsense_Mutation_p.G341*|TAF1A_uc001hnk.2_Nonsense_Mutation_p.G227* NM_139352 NP_647603 Q15573 TAF1A_HUMAN TBP-associated factor 1A isoform 2 341 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter RNA polymerase I transcription factor complex DNA binding 0 GBM - Glioblastoma multiforme(131;0.0186) TTAGTGCATCCGGCAAAATCT 0.333 NA 12 58 1.08611e-07 1.62412e-07 0.000978 1 0 RYR2 6262 broad.mit.edu 37 1 237656342 237656342 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:237656342G>T uc001hyl.1 + 19 2036 c.1916G>T c.(1915-1917)GGA>GTA p.G639V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 639 Cytoplasmic (By similarity).|B30.2/SPRY 1. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTCCTACCAGGAAGAGACTTG 0.438 NA 8 31 0.00307968 0.00370021 0.00308 1 0 OR2M7 391196 broad.mit.edu 37 1 248486947 248486947 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:248486947G>T uc010pzk.1 - 1 924 c.924C>A c.(922-924)GGC>GGA p.G308G NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCAGACTTGCCCTTTCCTA 0.378 NA 14 53 4.7546e-09 7.50482e-09 0.004007 1 0 OR2M7 391196 broad.mit.edu 37 1 248487446 248487446 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:248487446C>A uc010pzk.1 - 1 425 c.425G>T c.(424-426)GGA>GTA p.G142V NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGTCATAAGTCCACAAATTTT 0.478 NA 74 297 1.8615e-32 4.24106e-32 0.00361 1 0 ARMC3 219681 broad.mit.edu 37 10 23244787 23244787 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:23244787C>A uc001irm.3 + 4 301 c.218C>A c.(217-219)ACT>AAT p.T73N ARMC3_uc010qcv.1_Missense_Mutation_p.T73N|ARMC3_uc010qcw.1_5'UTR|ARMC3_uc001irn.1_5'UTR NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 73 ARM 2. binding 0 GAACCTTTAACTAAGCTACTC 0.348 NA 8 49 1.12685e-05 1.52456e-05 0.004482 1 0 ARMC3 219681 broad.mit.edu 37 10 23287230 23287230 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:23287230C>A uc001irm.3 + 11 1412 c.1329C>A c.(1327-1329)GCC>GCA p.A443A ARMC3_uc010qcv.1_Silent_p.A443A|ARMC3_uc010qcw.1_Silent_p.A180A NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 443 ARM 11. binding 0 TCATGCATGCCATCATCAGCC 0.542 NA 5 16 0.000602214 0.000749664 0.000602 1 0 Unknown 0 broad.mit.edu 37 10 49218470 49218470 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:49218470C>T uc001jgd.2 - 8 1828 c.1669G>A c.(1669-1671)GCT>ACT p.A557T uc001jge.1_5'Flank RecName: Full=Arf-GAP, GTPase, ANK repeat and PH domain-containing protein 11; AltName: Full=Centaurin-gamma-like protein KIAA1975; NA TCCTCATCAGCGGTGGCCCGC 0.617 NA 8 91 0 0 0.00308 0 0 HKDC1 80201 broad.mit.edu 37 10 71010090 71010090 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:71010090C>T uc001jpf.3 + 11 1748 c.1615C>T c.(1615-1617)CGG>TGG p.R539W HKDC1_uc010qje.1_Missense_Mutation_p.R402W NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 539 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 AACCAACTTCCGGGTCCTCCT 0.542 NA 22 208 0 0 0.001882 0 0 MYOF 26509 broad.mit.edu 37 10 95066741 95066741 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:95066741C>A uc001kin.2 - 54 6288 c.6165G>T c.(6163-6165)AAG>AAT p.K2055N MYOF_uc001kio.2_Missense_Mutation_p.K2042N|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 2055 Extracellular (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GCTTTACAATCTTCATTGACA 0.308 NA 25 135 1.42536e-11 2.46755e-11 0.004656 1 0 MYOF 26509 broad.mit.edu 37 10 95126285 95126285 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:95126285T>C uc001kin.2 - 26 2740 c.2617A>G c.(2617-2619)AAA>GAA p.K873E MYOF_uc001kio.2_Missense_Mutation_p.K860E|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 873 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GTACCCCATTTTCCAAACATG 0.348 NA 18 61 0 0 0.006122 0 0 TMEM20 159371 broad.mit.edu 37 10 95661109 95661109 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:95661109G>T uc001kjg.1 + 3 1021 c.960G>T c.(958-960)ATG>ATT p.M320I TMEM20_uc001kji.2_Intron|TMEM20_uc001kjf.1_Missense_Mutation_p.M319I|TMEM20_uc001kjh.2_Intron|TMEM20_uc010qnw.1_Missense_Mutation_p.M303I|TMEM20_uc001kjj.2_Intron NM_001134658 NP_001128130 Q2M3R5 TMM20_HUMAN transmembrane protein 20 isoform 1 320 Helical; (Potential).|DUF6 2. integral to membrane upper_aerodigestive_tract(1) 1 Colorectal(252;3.46e-05)|Renal(717;0.018)|Ovarian(717;0.0228)|all_hematologic(284;0.189) STAD - Stomach adenocarcinoma(243;0.00345) TGAAGACAATGGATGTGGTCT 0.403 NA 8 76 1.12685e-05 1.52456e-05 0.004482 1 0 HELLS 3070 broad.mit.edu 37 10 96333850 96333850 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:96333850A>G uc001kjt.2 + 8 716 c.611A>G c.(610-612)AAG>AGG p.K204R HELLS_uc001kjs.2_Missense_Mutation_p.K188R|HELLS_uc009xul.2_Missense_Mutation_p.K204R|HELLS_uc009xum.2_Missense_Mutation_p.K204R|HELLS_uc009xun.2_Missense_Mutation_p.K80R|HELLS_uc009xuo.2_Missense_Mutation_p.K204R|HELLS_uc001kju.2_5'UTR|HELLS_uc009xup.2_RNA|HELLS_uc009xuq.2_Missense_Mutation_p.K66R|HELLS_uc009xur.2_RNA NM_018063 NP_060533 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 204 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity ovary(1)|kidney(1) 2 Colorectal(252;0.0429) all cancers(201;2.13e-05) CCAGTCCGGAAGTGTAATGGT 0.393 NA 32 170 0 0 0.002836 0 0 FAM45A 404636 broad.mit.edu 37 10 120877099 120877099 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:120877099T>A uc001ldw.2 + 4 445 c.401T>A c.(400-402)ATA>AAA p.I134K FAM45A_uc010qsv.1_Missense_Mutation_p.I126K|FAM45A_uc010qsw.1_Intron|FAM45A_uc010qsx.1_RNA|FAM45A_uc010qsy.1_Missense_Mutation_p.I61K|FAM45A_uc010qsz.1_Missense_Mutation_p.I23K NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 134 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) ACAAAGGGGATATGCCAGAGT 0.423 NA 26 137 0 0 0.004656 0 0 PAOX 196743 broad.mit.edu 37 10 135203244 135203244 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr10:135203244G>T uc001lmv.2 + 6 1465 c.1385G>T c.(1384-1386)GGC>GTC p.G462V PAOX_uc001lmw.2_Intron|PAOX_uc001lmx.2_Intron|PAOX_uc001lmy.2_Intron|PAOX_uc001lmz.2_RNA|PAOX_uc001lna.2_RNA|PAOX_uc001lnb.2_RNA|PAOX_uc001lnc.2_RNA NM_152911 NP_690875 Q6QHF9 PAOX_HUMAN polyamine oxidase isoform 1 600 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) GACGGCGCCGGCGCCCAGGTA 0.736 NA 4 30 0.000602214 0.000749664 0.000602 1 0 OR51E2 81285 broad.mit.edu 37 11 4703764 4703764 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:4703764G>A uc001lzk.2 - 2 422 c.178C>T c.(178-180)CTC>TTC p.L60F NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) CAGAGAAAGAGGTACATCGGA 0.507 NA 18 73 0 0 0.00499 0 0 CNGA4 1262 broad.mit.edu 37 11 6260974 6260974 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:6260974G>T uc001mco.2 + 3 332 c.225G>T c.(223-225)ACG>ACT p.T75T CNGA4_uc010raa.1_Silent_p.T35T|CNGA4_uc001mcn.2_Silent_p.T35T NM_001037329 NP_001032406 Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 75 Helical; Name=H2; (Potential). response to stimulus|sensory perception of smell cAMP binding skin(1) 1 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGACTACACGAGTGACCTGC 0.537 NA 6 20 2.0095e-06 2.79708e-06 0.001984 1 0 NLRP10 338322 broad.mit.edu 37 11 7981773 7981773 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:7981773G>T uc001mfv.1 - 2 1403 c.1386C>A c.(1384-1386)TAC>TAA p.Y462* NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 462 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCGGAAGCTGTAGAACTTCT 0.507 NA 24 146 3.7963e-18 7.86959e-18 0.00333 1 0 IPO7 10527 broad.mit.edu 37 11 9438673 9438673 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:9438673T>C uc001mho.2 + 6 846 c.704T>C c.(703-705)GTT>GCT p.V235A NM_006391 NP_006382 O95373 IPO7_HUMAN importin 7 235 interspecies interaction between organisms|signal transduction Golgi apparatus|nuclear pore|soluble fraction protein transporter activity|Ran GTPase binding|small GTPase regulator activity lung(1)|breast(1) 2 all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217) TTAAAGACTGTTGTGAACAGG 0.294 NA 18 87 0 0 0.001523 0 0 IGSF22 283284 broad.mit.edu 37 11 18745745 18745745 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:18745745G>T uc009yht.2 - 2 229 c.39C>A c.(37-39)CAC>CAA p.H13Q IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 13 ovary(4)|large_intestine(2)|kidney(1) 7 CCATGGACACGTGCTCCTGCA 0.597 NA 27 120 1.17739e-12 2.12194e-12 0.005443 1 0 NAV2 89797 broad.mit.edu 37 11 19735466 19735466 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:19735466G>T uc010rdm.1 + 1 586 c.225G>T c.(223-225)CCG>CCT p.P75P NAV2_uc001mpp.2_Intron|NAV2_uc001mpr.3_Silent_p.P75P|LOC100126784_uc010rdl.1_3'UTR NM_145117 NP_660093 Q8IVL1 NAV2_HUMAN neuron navigator 2 isoform 2 75 nucleus ATP binding|helicase activity skin(4)|ovary(1)|pancreas(1) 6 AGGGGCTCCCGCTGCGGAAGA 0.602 NA 10 48 2.74318e-10 4.60054e-10 0.006214 1 0 ANO3 63982 broad.mit.edu 37 11 26664731 26664731 + Silent SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:26664731T>C uc001mqt.3 + 23 2423 c.2278T>C c.(2278-2280)TTG>CTG p.L760L ANO3_uc010rdr.1_Silent_p.L744L|ANO3_uc010rds.1_Silent_p.L599L|ANO3_uc010rdt.1_Silent_p.L614L NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 760 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTTTGCAGTTTTGCAATTTGG 0.284 NA 24 86 0 0 0.003954 0 0 SYT13 57586 broad.mit.edu 37 11 45275883 45275883 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:45275883T>C uc001myq.2 - 3 608 c.482A>G c.(481-483)AAA>AGA p.K161R SYT13_uc009yku.1_Missense_Mutation_p.K17R NM_020826 NP_065877 Q7L8C5 SYT13_HUMAN synaptotagmin XIII 161 Cytoplasmic (Potential). transport vesicle ovary(1) 1 GTAGTGGAGTTTGGGGGCCTG 0.517 NA 15 42 0 0 0.003163 0 0 MAPK8IP1 9479 broad.mit.edu 37 11 45924235 45924235 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:45924235G>T uc001nbr.2 + 5 1087 c.917G>T c.(916-918)CGG>CTG p.R306L NM_005456 NP_005447 Q9UQF2 JIP1_HUMAN mitogen-activated protein kinase 8 interacting 306 vesicle-mediated transport nucleus|perinuclear region of cytoplasm kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity ovary(2)|breast(1)|skin(1) 4 GBM - Glioblastoma multiforme(35;0.231) ACTGAGAGCCGGATGTCAGTC 0.667 NA 5 36 1.23904e-05 1.66701e-05 0.000602 1 0 OR4A47 403253 broad.mit.edu 37 11 48510784 48510785 + Missense_Mutation DNP GG GG TT TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:48510784_48510785GG>TT uc010rhx.1 + 1 440_441 c.440_441GG>TT c.(439-441)TGG>TTT p.W147F NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 147 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTAGTGTCCTGGGTTGGAGGAT 0.441 NA 22 98 0 0 0.004672 0 0 FOLH1 2346 broad.mit.edu 37 11 49175441 49175441 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:49175441C>A uc001ngy.2 - 17 2188 c.1927G>T c.(1927-1929)GCT>TCT p.A643S FOLH1_uc001ngx.2_Missense_Mutation_p.A75S|FOLH1_uc001ngz.2_Missense_Mutation_p.A643S|FOLH1_uc009yly.2_Missense_Mutation_p.A628S|FOLH1_uc009ylz.2_Missense_Mutation_p.A628S|FOLH1_uc009yma.2_Missense_Mutation_p.A335S NM_004476 NP_004467 Q04609 FOLH1_HUMAN folate hydrolase 1 isoform 1 643 Extracellular (Probable). proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity large_intestine(1)|ovary(1)|skin(1) 3 Capromab(DB00089)|L-Glutamic Acid(DB00142) AACTTGGAAGCAATTTCTGTA 0.259 NA 10 66 7.48243e-07 1.06608e-06 0.006214 1 0 OR5L1 219437 broad.mit.edu 37 11 55579627 55579627 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:55579627G>T uc001nhw.1 + 1 685 c.685G>T c.(685-687)GGC>TGC p.G229C NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) CCTGAAGATGGGCTCTGCAGA 0.512 NA 30 117 3.1745e-13 5.82997e-13 0.008361 1 0 HNRNPUL2 221092 broad.mit.edu 37 11 62490080 62490080 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:62490080C>A uc001nuw.2 - 6 1281 c.1088G>T c.(1087-1089)TGC>TTC p.C363F HNRNPUL2_uc001nuu.1_RNA NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 363 B30.2/SPRY. cell killing nucleus ATP binding|nucleic acid binding 0 TACAGCAAAGCAGCCAATAAC 0.453 NA 8 64 5.4927e-09 8.61356e-09 0.004482 1 0 PC 5091 broad.mit.edu 37 11 66631269 66631269 + Silent SNP C C A rs148281644 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:66631269C>A uc001ojn.1 - 10 1393 c.1344G>T c.(1342-1344)GCG>GCT p.A448A PC_uc001ojo.1_Silent_p.A448A|PC_uc001ojp.1_Silent_p.A448A NM_022172 NP_071504 P11498 PYC_HUMAN pyruvate carboxylase precursor 448 Biotin carboxylation. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity ovary(2)|lung(1)|kidney(1) 4 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGCGGAACTCCGCAAGGGCCC 0.662 NA 31 177 1.88708e-17 3.86213e-17 0.008361 1 0 LRRC32 2615 broad.mit.edu 37 11 76372209 76372209 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:76372209C>A uc001oxq.3 - 3 671 c.428G>T c.(427-429)CGG>CTG p.R143L LRRC32_uc001oxr.3_Missense_Mutation_p.R143L|LRRC32_uc010rsf.1_Missense_Mutation_p.R143L NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 143 Extracellular (Potential).|LRR 4. integral to plasma membrane 0 CCCCAGCAGCCGCTCCAGCAG 0.687 NA 14 55 0.000219431 0.000278909 0.00245 1 0 ODZ4 26011 broad.mit.edu 37 11 78387379 78387379 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:78387379G>A uc001ozl.3 - 30 5777 c.5314C>T c.(5314-5316)CTG>TTG p.L1772L ODZ4_uc001ozk.3_5'UTR|ODZ4_uc009yvb.1_Silent_p.L356L NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1772 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CCGTTGGCCAGCAGCAGCCGC 0.622 NA 3 61 0 0 0.004672 0 0 BIRC2 329 broad.mit.edu 37 11 102239138 102239138 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:102239138G>T uc001pgy.2 + 6 2624 c.1225G>T c.(1225-1227)GTG>TTG p.V409L BIRC2_uc010ruq.1_Missense_Mutation_p.V360L|BIRC2_uc010rur.1_Missense_Mutation_p.V409L NM_001166 NP_001157 Q13490 BIRC2_HUMAN baculoviral IAP repeat-containing protein 2 409 cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination CD40 receptor complex|cytosol|internal side of plasma membrane protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093) Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0144) TAGAGACCTGGTGAAACAAAC 0.363 NA 17 103 4.14922e-12 7.34092e-12 0.004007 1 0 GRIA4 2893 broad.mit.edu 37 11 105795225 105795225 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:105795225T>C uc001pix.2 + 12 2023 c.1577T>C c.(1576-1578)ATC>ACC p.I526T GRIA4_uc001piw.2_Missense_Mutation_p.I526T NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 526 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TCTATCATGATCAAAAAGCCT 0.438 NA 4 229 0 0 0.000248 0 0 CHEK1 1111 broad.mit.edu 37 11 125497573 125497573 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:125497573T>C uc009zbo.2 + 3 1029 c.137T>C c.(136-138)GTA>GCA p.V46A CHEK1_uc010sbh.1_Intron|CHEK1_uc010sbi.1_Missense_Mutation_p.V46A|CHEK1_uc001qcf.3_Missense_Mutation_p.V46A|CHEK1_uc009zbp.2_Missense_Mutation_p.V46A|CHEK1_uc001qcg.3_Missense_Mutation_p.V46A|CHEK1_uc009zbq.2_Missense_Mutation_p.V46A|CHEK1_uc001qci.1_RNA NM_001114122 NP_001107594 O14757 CHK1_HUMAN checkpoint kinase 1 46 Protein kinase. cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|lung(2)|skin(1) 6 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) AAGCGTGCCGTAGACTGTCCA 0.343 NA Other_conserved_DNA_damage_response_genes 3 89 0 0 0.004672 0 0 NCAPD3 23310 broad.mit.edu 37 11 134051057 134051057 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:134051057C>A uc001qhd.1 - 20 3080 c.2474G>T c.(2473-2475)GGG>GTG p.G825V NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 825 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) GAGTACATCCCCACACACCTG 0.522 NA 16 37 2.32078e-09 3.72405e-09 0.003163 1 0 CACNA1C 775 broad.mit.edu 37 12 2714893 2714893 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:2714893G>T uc009zdu.1 + 25 3470 c.3157G>T c.(3157-3159)GTG>TTG p.V1053L CACNA1C_uc009zdv.1_Missense_Mutation_p.V1030L|CACNA1C_uc001qkb.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkc.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qke.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkf.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qjz.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkd.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkg.2_Missense_Mutation_p.V1033L|CACNA1C_uc009zdw.1_Missense_Mutation_p.V1033L|CACNA1C_uc001qkh.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkl.2_Missense_Mutation_p.V1053L|CACNA1C_uc001qkn.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qko.2_Missense_Mutation_p.V1053L|CACNA1C_uc001qkp.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkr.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qku.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkq.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qks.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qkt.2_Missense_Mutation_p.V1033L|CACNA1C_uc001qka.1_Missense_Mutation_p.V568L|CACNA1C_uc001qki.1_Missense_Mutation_p.V769L|CACNA1C_uc001qkj.1_Missense_Mutation_p.V769L|CACNA1C_uc001qkk.1_Missense_Mutation_p.V769L|CACNA1C_uc001qkm.1_Missense_Mutation_p.V769L NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1053 III.|Helical; Name=S5 of repeat III; (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGGGAACATCGTGATTGTCAC 0.587 NA 9 52 6.40141e-05 8.33391e-05 0.000978 1 0 NTF3 4908 broad.mit.edu 37 12 5603979 5603979 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:5603979C>A uc001qnl.3 + 1 682 c.599C>A c.(598-600)CCG>CAG p.P200Q NTF3_uc001qnk.3_Missense_Mutation_p.P213Q NM_002527 NP_002518 P20783 NTF3_HUMAN neurotrophin 3 isoform 2 preproprotein 200 signal transduction extracellular region growth factor activity|neurotrophin receptor binding pancreas(1) 1 GAAGCCAGGCCGGTCAAAAAC 0.483 GBM(194;1104 2182 8339 9578 18493) NA 14 63 1.5739e-10 2.69572e-10 0.004007 1 0 CLEC1A 51267 broad.mit.edu 37 12 10241744 10241744 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:10241744G>C uc001qxb.2 - 2 277 c.193C>G c.(193-195)CTG>GTG p.L65V CLEC1A_uc009zhf.2_5'UTR|CLEC1A_uc001qxc.2_5'UTR|CLEC1A_uc001qxd.2_Intron|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 65 Helical; Signal-anchor for type II membrane protein; (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 AGGGCTGCCAGCCCTATCAGC 0.552 NA 5 52 0 0 0.001168 0 0 LRP6 4040 broad.mit.edu 37 12 12311984 12311984 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:12311984C>A uc001rah.3 - 12 2712 c.2570G>T c.(2569-2571)CGT>CTT p.R857L BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R857L NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 857 Extracellular (Potential).|Beta-propeller 3.|LDL-receptor class B 15. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) TTTGTTGGCACGCTCAATGCT 0.488 NA 14 72 1.3612e-06 1.91122e-06 0.003163 1 0 TMTC1 83857 broad.mit.edu 37 12 29669312 29669312 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:29669312G>T uc001rjb.2 - 15 2427 c.1953C>A c.(1951-1953)GCC>GCA p.A651A TMTC1_uc001riz.2_Silent_p.A408A|TMTC1_uc001rja.2_Silent_p.A495A|TMTC1_uc001riy.2_Silent_p.A104A NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 759 TPR 8. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) TGCTATAGATGGCTGACAAGA 0.448 NA 27 119 2.44723e-14 4.58144e-14 0.004656 1 0 DENND5B 160518 broad.mit.edu 37 12 31633191 31633191 + Splice_Site SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:31633191T>A uc001rki.1 - 3 424 c.238_splice c.e3-1 p.L80_splice DENND5B_uc001rkh.1_Splice_Site_p.L115_splice|DENND5B_uc009zjq.1_Splice_Site|DENND5B_uc001rkj.2_Splice_Site_p.L102_splice|DENND5B_uc001rkk.1_Splice_Site_p.L2_splice NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B integral to membrane ovary(1)|central_nervous_system(1) 2 CATGCACAACTGTGAAAGAAA 0.363 NA 3 5 0 0 0.004672 0 0 CSRNP2 81566 broad.mit.edu 37 12 51458343 51458343 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:51458343A>C uc001rxu.1 - 5 1116 c.818T>G c.(817-819)ATT>AGT p.I273S NM_030809 NP_110436 Q9H175 CSRN2_HUMAN TGF-beta induced apoptosis protein 12 273 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGCTTCATAATGGTGTGGAG 0.592 NA 25 88 0 0 0.00632 0 0 TFCP2 7024 broad.mit.edu 37 12 51495784 51495784 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:51495784C>G uc001rxw.2 - 11 1544 c.1085G>C c.(1084-1086)AGA>ACA p.R362T TFCP2_uc001rxv.1_Missense_Mutation_p.R362T|TFCP2_uc009zlx.1_Missense_Mutation_p.R311T|TFCP2_uc001rxx.2_Intron|TFCP2_uc009zly.1_Missense_Mutation_p.R264T NM_005653 NP_005644 Q12800 TFCP2_HUMAN transcription factor CP2 362 DNA-binding. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CACATCATCTCTAGTTAATTT 0.323 NA 3 85 0 0 0.004672 0 0 PTPRB 5787 broad.mit.edu 37 12 70948941 70948941 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:70948941A>T uc001swb.3 - 18 4518 c.4488T>A c.(4486-4488)GAT>GAA p.D1496E PTPRB_uc010sto.1_Missense_Mutation_p.D1406E|PTPRB_uc010stp.1_Missense_Mutation_p.D1406E|PTPRB_uc001swc.3_Missense_Mutation_p.D1714E|PTPRB_uc001swa.3_Missense_Mutation_p.D1626E NM_002837 NP_002828 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1496 Fibronectin type-III 17.|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) ATAACTTACCATCAGCCTCTC 0.423 NA 4 77 0 0 0.000248 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72056983 72056983 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:72056983C>A uc001swo.2 - 1 767 c.408G>T c.(406-408)CGG>CGT p.R136R ZFC3H1_uc010sts.1_Silent_p.R136R|ZFC3H1_uc001swp.2_Silent_p.R136R|THAP2_uc001swq.2_5'Flank NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 136 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 CGAGGTGGCTCCGCTCCCAGA 0.647 NA 12 86 0.00010058 0.000129202 0.001368 1 0 NAV3 89795 broad.mit.edu 37 12 78444565 78444565 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:78444565C>A uc001syp.2 + 11 2327 c.2154C>A c.(2152-2154)GAC>GAA p.D718E NAV3_uc001syo.2_Missense_Mutation_p.D718E|NAV3_uc010sub.1_Missense_Mutation_p.D218E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 718 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CAACATTTGACAGCACTGTGA 0.473 NA HNSCC(70;0.22) 16 82 2.4624e-09 3.92521e-09 0.008871 1 0 ATP2B1 490 broad.mit.edu 37 12 90028574 90028574 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:90028574C>A uc001tbh.2 - 4 949 c.768G>T c.(766-768)AAG>AAT p.K256N ATP2B1_uc001tbg.2_Missense_Mutation_p.K256N NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 256 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 GTAAGGGATCCTTATCTAAAG 0.348 NA 8 38 7.48243e-07 1.06608e-06 0.006214 1 0 DNAH10 196385 broad.mit.edu 37 12 124362333 124362333 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:124362333G>T uc001uft.3 + 47 7921 c.7896G>T c.(7894-7896)ACG>ACT p.T2632T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2632 AAA 3 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CATTCTGCACGCTAGCACTTT 0.413 NA 18 111 6.49762e-13 1.17983e-12 0.006122 1 0 RIMBP2 23504 broad.mit.edu 37 12 130921572 130921572 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:130921572C>A uc001uil.2 - 10 2034 c.1870G>T c.(1870-1872)GCC>TCC p.A624S RIMBP2_uc001uim.2_Missense_Mutation_p.A532S|RIMBP2_uc001uin.1_Missense_Mutation_p.A283S NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 624 Pro-rich. cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TGCTCCCAGGCCTCATCCATC 0.672 NA 5 30 0.000602214 0.000749664 0.000602 1 0 STX2 2054 broad.mit.edu 37 12 131293251 131293251 + Splice_Site SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr12:131293251T>A uc001uio.2 - 5 448 c.281_splice c.e5-1 p.A94_splice STX2_uc001uip.2_Splice_Site_p.A94_splice|STX2_uc010tbj.1_Splice_Site_p.A94_splice NM_194356 NP_919337 P32856 STX2_HUMAN syntaxin 2 isoform 2 acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) GTTCAATAGCTAGGAACAAAT 0.353 NA 51 226 0 0 0.00361 0 0 LATS2 26524 broad.mit.edu 37 13 21557438 21557438 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:21557438C>A uc009zzs.2 - 5 2772 c.2407G>T c.(2407-2409)GGT>TGT p.G803C LATS2_uc001unr.3_Missense_Mutation_p.G803C NM_014572 NP_055387 Q9NRM7 LATS2_HUMAN LATS, large tumor suppressor, homolog 2 803 Protein kinase. cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|central_nervous_system(3)|ovary(2)|breast(1)|pancreas(1) 10 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TTAATGTGACCATCCAGATCT 0.458 NA 13 58 1.61879e-10 2.74343e-10 0.001368 1 0 SGCG 6445 broad.mit.edu 37 13 23853548 23853548 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:23853548G>T uc001uom.2 + 5 591 c.436G>T c.(436-438)GAC>TAC p.D146Y SGCG_uc009zzv.2_Missense_Mutation_p.D146Y|SGCG_uc009zzw.2_Missense_Mutation_p.D146Y NM_000231 NP_000222 Q13326 SGCG_HUMAN gamma sarcoglycan 146 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188) all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205) CAACTCCAACGACGGCAAGCC 0.383 NA 10 39 0.000978159 0.00120216 0.000978 1 0 SIAH3 283514 broad.mit.edu 37 13 46425646 46425646 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:46425646G>T uc001vap.2 - 1 201 c.119C>A c.(118-120)CCC>CAC p.P40H NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 40 multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 GTTGTGTGTGGGGTTGACGAC 0.537 NA 11 76 0.00010058 0.000129202 0.001368 1 0 HTR2A 3356 broad.mit.edu 37 13 47466725 47466725 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:47466725C>A uc001vbq.2 - 2 547 c.413G>T c.(412-414)GGG>GTG p.G138V HTR2A_uc001vbr.2_Missense_Mutation_p.W38L|HTR2A_uc010acr.2_Missense_Mutation_p.G138V NM_000621 NP_000612 P28223 5HT2A_HUMAN 5-hydroxytryptamine receptor 2A isoform 1 138 Extracellular (By similarity). ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission integral to plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333) GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224) Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CCACCGGTACCCTATGAGGCA 0.567 NA 16 58 6.94344e-10 1.14071e-09 0.006122 1 0 LECT1 11061 broad.mit.edu 37 13 53286963 53286963 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:53286963A>T uc001vhf.2 - 5 621 c.510T>A c.(508-510)CTT>CTA p.L170L LECT1_uc001vhg.2_Silent_p.L170L|LECT1_uc001vhh.2_Silent_p.L159L NM_007015 NP_008946 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 isoform 1 170 BRICHOS. cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane ovary(2) 2 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) CCACCCAGATAAGAGAATTTT 0.398 NA 30 94 0 0 0.008361 0 0 GPR18 2841 broad.mit.edu 37 13 99908075 99908075 + Missense_Mutation SNP G G T rs138394107 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:99908075G>T uc001voe.3 - 3 553 c.52C>A c.(52-54)CCA>ACA p.P18T UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron|GPR18_uc010afv.2_Missense_Mutation_p.P18T NM_005292 NP_005283 Q14330 GPR18_HUMAN G protein-coupled receptor 18 18 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) TATTCATCTGGATGTGAGCTG 0.358 NA 30 112 8.88839e-20 1.90804e-19 0.002096 1 0 NALCN 259232 broad.mit.edu 37 13 102047695 102047695 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:102047695T>A uc001vox.1 - 3 319 c.130A>T c.(130-132)ATC>TTC p.I44F NALCN_uc001voy.2_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.I44F|NALCN_uc001vpa.2_Missense_Mutation_p.I44F NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 44 Helical; Name=S1 of repeat I; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ATGGCACAGATGCGCAGCAAA 0.433 NA 9 54 0 0 0.004482 0 0 OR4M1 441670 broad.mit.edu 37 14 20248962 20248962 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:20248962G>T uc010tku.1 + 1 481 c.481G>T c.(481-483)GCT>TCT p.A161S NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 161 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AATACAGGTGGCTCTCATTGT 0.512 NA 31 244 8.16721e-17 1.63007e-16 0.002096 1 0 DHRS4 10901 broad.mit.edu 37 14 24435560 24435560 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:24435560G>C uc001wla.2 + 6 633 c.600G>C c.(598-600)CTG>CTC p.L200L DHRS4_uc010aky.2_Intron|DHRS4_uc001wlb.2_Silent_p.L166L|DHRS4_uc010akz.2_Intron|DHRS4_uc001wlc.3_Silent_p.L200L|DHRS4L2_uc001wld.3_Intron|DHRS4L2_uc001wle.3_Intron NM_021004 NP_066284 Q9BTZ2 DHRS4_HUMAN peroxisomal short-chain alcohol dehydrogenase 200 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) CCATAGAGCTGGCCCCAAGGA 0.507 NA 14 180 0 0 0.003163 0 0 LRFN5 145581 broad.mit.edu 37 14 42355863 42355863 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:42355863G>A uc001wvm.2 + 3 1233 c.35G>A c.(34-36)GGC>GAC p.G12D LRFN5_uc010ana.2_Missense_Mutation_p.G12D NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 12 integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) TTTCTCATTGGCATAGCAGTG 0.373 NA HNSCC(30;0.082) 11 52 0 0 0.000978 0 0 FSCB 84075 broad.mit.edu 37 14 44975985 44975985 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:44975985G>T uc001wvn.2 - 1 515 c.206C>A c.(205-207)ACT>AAT p.T69N NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 69 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) AGACTTACTAGTCATTTCCTG 0.423 NA 27 129 7.92952e-12 1.38767e-11 0.003954 1 0 RPL10L 140801 broad.mit.edu 37 14 47120853 47120853 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:47120853G>T uc001wwg.2 - 1 176 c.87C>A c.(85-87)GCC>GCA p.A29A NM_080746 NP_542784 Q96L21 RL10L_HUMAN ribosomal protein L10-like protein 29 spermatogenesis|translation cytosolic large ribosomal subunit|nucleus structural constituent of ribosome ovary(1) 1 TGCGGATCTTGGCATCAGGAA 0.527 NA 18 148 4.75885e-15 9.01382e-15 0.00499 1 0 KCNH5 27133 broad.mit.edu 37 14 63447817 63447817 + Nonsense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:63447817T>A uc001xfx.2 - 6 766 c.715A>T c.(715-717)AAA>TAA p.K239* KCNH5_uc001xfy.2_Nonsense_Mutation_p.K239*|KCNH5_uc001xfz.1_Nonsense_Mutation_p.K181*|KCNH5_uc001xga.2_Nonsense_Mutation_p.K181* NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 239 Extracellular (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGCTTTGTTTTGAAGGAAACA 0.368 NA 7 48 0 0 0.001984 0 0 GPHB5 122876 broad.mit.edu 37 14 63784422 63784422 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:63784422G>T uc010apu.2 - 1 142 c.142C>A c.(142-144)CCA>ACA p.P48T GPHB5_uc001xgc.2_Missense_Mutation_p.P38T NM_145171 NP_660154 Q86YW7 GPHB5_HUMAN glycoprotein beta 5 48 extracellular region hormone activity breast(1) 1 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) CTGCAGCCTGGCTTCTTGGCC 0.597 NA 8 40 5.18039e-06 7.14894e-06 0.00308 1 0 SYNE2 23224 broad.mit.edu 37 14 64516346 64516346 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:64516346G>C uc001xgm.2 + 47 7625 c.7395G>C c.(7393-7395)TTG>TTC p.L2465F SYNE2_uc001xgl.2_Missense_Mutation_p.L2465F NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 2465 Potential.|Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) ATACCCAGTTGGAAGCAAAGA 0.358 NA 7 43 0 0 0.001984 0 0 Unknown 0 broad.mit.edu 37 14 66480164 66480164 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:66480164C>T uc001xit.2 - 1 469 c.344G>A c.(343-345)GGT>GAT p.G115D SubName: Full=Nuclease sensitive element binding protein-1; NA TGCCTTCGCACCCTTTTCTCC 0.483 NA 32 147 0 0 0.003271 0 0 SERPINA6 866 broad.mit.edu 37 14 94770786 94770786 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:94770786A>G uc001ycv.2 - 5 1291 c.1187T>C c.(1186-1188)CTT>CCT p.L396P SERPINA6_uc010auv.2_RNA NM_001756 NP_001747 P08185 CBG_HUMAN corticosteroid binding globulin precursor 396 regulation of proteolysis|transport extracellular space serine-type endopeptidase inhibitor activity|steroid binding skin(3)|ovary(1)|central_nervous_system(1) 5 all_cancers(154;0.0482)|all_epithelial(191;0.166) COAD - Colon adenocarcinoma(157;0.211) Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620) CGCCAGGAAAAGGCTGCTCCA 0.527 NA 3 107 0 0 0.000248 0 0 EVL 51466 broad.mit.edu 37 14 100604129 100604129 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:100604129C>G uc001ygt.2 + 11 1317 c.1078C>G c.(1078-1080)CCT>GCT p.P360A EVL_uc001ygv.2_Missense_Mutation_p.P366A|EVL_uc001ygu.2_Missense_Mutation_p.P362A|EVL_uc010avu.2_Missense_Mutation_p.P219A NM_016337 NP_057421 Q9UI08 EVL_HUMAN Enah/Vasp-like 360 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding large_intestine(2)|ovary(1) 3 Melanoma(154;0.152) TCAGTCGCAGCCTCACTCTAG 0.607 NA 16 91 0 0 0.004007 0 0 DLK1 8788 broad.mit.edu 37 14 101200835 101200835 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:101200835C>T uc001yhs.3 + 5 907 c.754C>T c.(754-756)CCC>TCC p.P252S DLK1_uc001yhu.3_Intron NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 252 Extracellular (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) CGCGCTGAGCCCCCAGCAGGT 0.677 NA 12 58 0 0 0.001855 0 0 AHNAK2 113146 broad.mit.edu 37 14 105419467 105419467 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:105419467T>C uc010axc.1 - 7 2441 c.2321A>G c.(2320-2322)AAG>AGG p.K774R AHNAK2_uc001ypx.2_Missense_Mutation_p.K674R NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 774 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTTGGGGCCCTTGAGGTCCAC 0.632 NA 46 275 0 0 0.00361 0 0 PLCB2 5330 broad.mit.edu 37 15 40586546 40586546 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:40586546A>G uc001zld.2 - 19 2283 c.1982T>C c.(1981-1983)ATG>ACG p.M661T PLCB2_uc010bbo.2_Missense_Mutation_p.M657T|PLCB2_uc010ucm.1_Missense_Mutation_p.M661T NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 661 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) CGGCCGGCGCATGAACTCATG 0.582 NA 15 56 0 0 0.00245 0 0 TRIM69 140691 broad.mit.edu 37 15 45059693 45059693 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:45059693C>T uc001zuf.2 + 8 2121 c.1226C>T c.(1225-1227)CCT>CTT p.P409L TRIM69_uc001zui.1_Missense_Mutation_p.P205L|TRIM69_uc010bdy.1_Missense_Mutation_p.P188L|TRIM69_uc001zug.1_Missense_Mutation_p.P409L|TRIM69_uc001zuh.1_Missense_Mutation_p.P250L NM_182985 NP_892030 Q86WT6 TRI69_HUMAN tripartite motif-containing 69 isoform a 409 B30.2/SPRY. apoptosis nuclear speck zinc ion binding 0 all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141) CCTCTAACTCCTGAGCAAGGA 0.448 Pancreas(84;519 1450 1802 20427 34706) NA 5 84 0 0 0.000602 0 0 SCG3 29106 broad.mit.edu 37 15 51991556 51991556 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:51991556G>C uc002abh.2 + 9 1434 c.1026G>C c.(1024-1026)AAG>AAC p.K342N SCG3_uc010ufz.1_Missense_Mutation_p.K110N NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 342 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) CCAAAAACAAGCTAGAAAAAA 0.313 NA 12 128 0 0 0.00245 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65847232 65847232 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:65847232A>T uc002apc.2 + 3 286 c.138A>T c.(136-138)GGA>GGT p.G46G PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Silent_p.G46G NM_016395 NP_057479 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain 46 CS.|Cytoplasmic (Potential). activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding 0 TAGCTCAAGGACATGGTGCCA 0.438 NA 27 198 0 0 0.005443 0 0 CCDC33 80125 broad.mit.edu 37 15 74573106 74573106 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:74573106C>T uc002axo.2 + 9 1381 c.987C>T c.(985-987)GGC>GGT p.G329G CCDC33_uc002axp.2_Silent_p.G151G NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 532 protein binding ovary(3)|skin(2) 5 CAGGGAAAGGCTTGGACGGGC 0.532 NA 10 56 0 0 0.001855 0 0 SGK269 79834 broad.mit.edu 37 15 77471208 77471208 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:77471208C>A uc002bcm.2 - 3 3369 c.3061G>T c.(3061-3063)GAG>TAG p.E1021* SGK269_uc002bcn.2_Nonsense_Mutation_p.E1021* NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 1021 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding 0 STAD - Stomach adenocarcinoma(199;0.124) AATGCATTCTCTGCTCTACCC 0.468 NA 9 63 0.00448238 0.00534565 0.004482 1 0 SLC28A1 9154 broad.mit.edu 37 15 85448795 85448795 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:85448795G>T uc002blg.2 + 8 831 c.629G>T c.(628-630)GGA>GTA p.G210V SLC28A1_uc010upd.1_Missense_Mutation_p.G132V|SLC28A1_uc010bnb.2_Missense_Mutation_p.G210V|SLC28A1_uc010upe.1_Missense_Mutation_p.G210V|SLC28A1_uc010upf.1_Missense_Mutation_p.G210V|SLC28A1_uc010upg.1_Missense_Mutation_p.G210V NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 210 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) GTGTCTTGGGGACTTGGACTG 0.582 NA 15 54 1.02788e-11 1.78586e-11 0.00499 1 0 SLC28A1 9154 broad.mit.edu 37 15 85487830 85487830 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:85487830C>T uc002blg.2 + 17 1899 c.1697C>T c.(1696-1698)TCC>TTC p.S566F SLC28A1_uc010bnb.2_Missense_Mutation_p.S566F|SLC28A1_uc010upe.1_Missense_Mutation_p.S400F|SLC28A1_uc010upf.1_Missense_Mutation_p.S566F|SLC28A1_uc010upg.1_Intron NM_004213 NP_004204 O00337 S28A1_HUMAN solute carrier family 28, member 1 isoform 1 566 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding skin(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGCGACTTCTCCCAGATAGTG 0.637 NA 3 35 0 0 0.004672 0 0 LINS1 55180 broad.mit.edu 37 15 101114229 101114229 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr15:101114229C>A uc002bwe.2 - 6 1140 c.849G>T c.(847-849)ATG>ATT p.M283I LINS1_uc002bwd.2_5'Flank|LINS1_uc002bwf.2_Missense_Mutation_p.M283I|LINS1_uc002bwg.2_Missense_Mutation_p.M283I|LINS1_uc002bwh.2_Missense_Mutation_p.M283I|LINS1_uc010usa.1_Missense_Mutation_p.M164I|LINS1_uc002bwi.2_Missense_Mutation_p.M283I NM_001040614 NP_001035704 Q8NG48 LINES_HUMAN lines homolog 1 283 0 Lung NSC(78;0.0018)|all_lung(78;0.00223)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00095)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) TAACTTCTAGCATGCAAGATG 0.413 NA 8 50 1.26484e-09 2.04321e-09 0.00308 1 0 OR1F1 4992 broad.mit.edu 37 16 3255074 3255074 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:3255074G>T uc010uwu.1 + 1 828 c.828G>T c.(826-828)GTG>GTT p.V276V NM_012360 NP_036492 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGGCTACTGTGTTGTATACAG 0.478 NA 27 167 1.75199e-13 3.24218e-13 0.007291 1 0 UBN1 29855 broad.mit.edu 37 16 4910738 4910738 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:4910738C>T uc002cyb.2 + 7 1084 c.745C>T c.(745-747)CTA>TTA p.L249L UBN1_uc010uxw.1_Silent_p.L249L|UBN1_uc002cyc.2_Silent_p.L249L NM_001079514 NP_001072982 Q9NPG3 UBN1_HUMAN ubinuclein 1 249 Lys-rich. chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 TAAAGAGATGCTAAAGAAATT 0.478 NA 38 171 0 0 0.003755 0 0 PPL 5493 broad.mit.edu 37 16 4940293 4940293 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:4940293G>C uc002cyd.1 - 18 2295 c.2205C>G c.(2203-2205)TTC>TTG p.F735L NM_002705 NP_002696 O60437 PEPL_HUMAN periplakin 735 Spectrin 4.|Potential. keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton ovary(4)|central_nervous_system(1)|skin(1) 6 GGCCGCGGTGGAAGTGCTCGT 0.607 NA 6 50 0 0 0.001984 0 0 USP7 7874 broad.mit.edu 37 16 8995984 8995984 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:8995984C>A uc002czl.2 - 18 2201 c.2002G>T c.(2002-2004)GAG>TAG p.E668* USP7_uc010uyk.1_Nonsense_Mutation_p.E569*|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Nonsense_Mutation_p.E569*|USP7_uc002czk.2_Nonsense_Mutation_p.E652*|USP7_uc010uyl.1_RNA NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 668 Interaction with ICP0/VMW110. interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 GCAGCCAGCTCGGGATCAACT 0.463 NA 8 84 0.000442599 0.000556707 0.006214 1 0 GRIN2A 2903 broad.mit.edu 37 16 10031860 10031860 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:10031860G>A uc002czo.3 - 3 1511 c.963C>T c.(961-963)TAC>TAT p.Y321Y GRIN2A_uc010uym.1_Silent_p.Y321Y|GRIN2A_uc010uyn.1_Silent_p.Y164Y|GRIN2A_uc002czr.3_Silent_p.Y321Y NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 321 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCATCTGCCCGTAGCAGCTGG 0.562 NA 8 50 0 0 0.00308 0 0 ABCC6P1 653190 broad.mit.edu 37 16 18602624 18602625 + Missense_Mutation DNP GC GC AT TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:18602624_18602625GC>AT uc002dfg.2 + 8 1022_1023 c.822_823GC>AT c.(820-825)CTGCTC>CTATTC p.L275F ABCC6P1_uc010vam.1_Missense_Mutation_p.L218F NR_003569 SubName: Full=cDNA FLJ51267, highly similar to Multidrug resistance-associated protein 6; 0 TCCCCAAGCTGCTCAGGTGAGT 0.584 NA 13 85 0 0 0.004672 0 0 ARMC5 79798 broad.mit.edu 37 16 31476036 31476036 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:31476036A>T uc002ecc.2 + 4 2221 c.1692A>T c.(1690-1692)CCA>CCT p.P564P ARMC5_uc010vfn.1_Silent_p.P659P|ARMC5_uc010vfo.1_Silent_p.P596P|ARMC5_uc002eca.3_Silent_p.P564P|ARMC5_uc010vfp.1_Silent_p.P372P|ARMC5_uc002ecb.2_Silent_p.P564P NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 564 binding pancreas(1) 1 CGCCCAGCCCACGTGCACTGC 0.706 NA 3 14 0 0 0.004672 0 0 BBS2 583 broad.mit.edu 37 16 56519510 56519510 + Missense_Mutation SNP C C T rs138913160 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:56519510C>T uc002ejd.2 - 16 2285 c.2051G>A c.(2050-2052)CGT>CAT p.R684H NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 684 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 ACCCCGCAGACGACCTGCTCT 0.388 NA Bardet-Biedl_syndrome 5 184 0 0 0.000602 0 0 SMPD3 55512 broad.mit.edu 37 16 68405827 68405827 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:68405827G>T uc002ewa.2 - 3 680 c.258C>A c.(256-258)TCC>TCA p.S86S SMPD3_uc010cfe.2_Silent_p.S86S|SMPD3_uc010vlh.1_Silent_p.S86S NM_018667 NP_061137 Q9NY59 NSMA2_HUMAN neutral sphingomyelin phosphodiesterase 3 86 Lumenal (Potential). cell cycle|multicellular organismal development|sphingomyelin catabolic process Golgi membrane|integral to membrane|plasma membrane metal ion binding|sphingomyelin phosphodiesterase activity skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785) Phosphatidylserine(DB00144) ACTGCAGTGGGGACCAGAAGA 0.657 NA 5 63 0.000602214 0.000749664 0.000602 1 0 PDPR 55066 broad.mit.edu 37 16 70190519 70190519 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:70190519G>T uc002eyf.1 + 19 3334 c.2377G>T c.(2377-2379)GGG>TGG p.G793W CLEC18C_uc002exy.2_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.G693W|PDPR_uc002eyg.1_Missense_Mutation_p.G460W|PDPR_uc002eyh.2_Missense_Mutation_p.G138W|PDPR_uc010vls.1_Missense_Mutation_p.G138W NM_017990 NP_060460 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory 793 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.124) TTACCGGAATGGGCAGTATGT 0.542 NA 51 267 7.91745e-34 1.81238e-33 0.00361 1 0 SF3B3 23450 broad.mit.edu 37 16 70599102 70599102 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:70599102C>T uc002ezf.2 + 19 2809 c.2598C>T c.(2596-2598)ATC>ATT p.I866I NM_012426 NP_036558 Q15393 SF3B3_HUMAN splicing factor 3b, subunit 3 866 protein complex assembly catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(1) 1 Ovarian(137;0.0694) CCTCTGTGATCCGAGTGATGA 0.542 NA 26 71 0 0 0.00333 0 0 CHST4 10164 broad.mit.edu 37 16 71570875 71570875 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr16:71570875C>A uc002fan.2 + 2 476 c.295C>A c.(295-297)CGG>AGG p.R99R CHST4_uc002fao.2_Silent_p.R99R NM_005769 NP_005760 Q8NCG5 CHST4_HUMAN carbohydrate (N-acetylglucosamine 6-O) 99 Lumenal (Potential). cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity 0 GGATCTGATACGGGCCGTCTT 0.592 NA 28 69 4.59853e-10 7.60647e-10 0.005443 1 0 OR1A1 8383 broad.mit.edu 37 17 3119679 3119679 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:3119679G>T uc010vrc.1 + 1 765 c.765G>T c.(763-765)ATG>ATT p.M255I NM_014565 NP_055380 Q9P1Q5 OR1A1_HUMAN olfactory receptor, family 1, subfamily A, 255 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GTACAGTCATGGGCACGTATT 0.488 NA 29 156 3.1745e-13 5.82997e-13 0.008361 1 0 TEKT1 83659 broad.mit.edu 37 17 6703489 6703489 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:6703489G>A uc002gdt.2 - 8 1224 c.1114C>T c.(1114-1116)CTG>TTG p.L372L TEKT1_uc010vth.1_Silent_p.L226L NM_053285 NP_444515 Q969V4 TEKT1_HUMAN tektin 1 372 Potential. microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(1)|skin(1) 2 Myeloproliferative disorder(207;0.0255) TCCTCCTGCAGGGCAAGCTGT 0.483 NA 13 105 0 0 0.001855 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C A rs28934575 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:7577548C>A uc002gim.2 - 7 927 c.733G>T c.(733-735)GGC>TGC p.G245C TP53_uc002gig.1_Missense_Mutation_p.G245C|TP53_uc002gih.2_Missense_Mutation_p.G245C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113C|TP53_uc010cng.1_Missense_Mutation_p.G113C|TP53_uc002gii.1_Missense_Mutation_p.G113C|TP53_uc010cnh.1_Missense_Mutation_p.G245C|TP53_uc010cni.1_Missense_Mutation_p.G245C|TP53_uc002gij.2_Missense_Mutation_p.G245C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152C|TP53_uc002gio.2_Missense_Mutation_p.G113C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577 Pancreas(47;798 1329 9957 10801) G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 63 2.75727e-19 5.84106e-19 0.004878 1 0 ARHGEF15 22899 broad.mit.edu 37 17 8221720 8221720 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:8221720A>T uc002glc.2 + 10 1841 c.1720A>T c.(1720-1722)ACA>TCA p.T574S ARHGEF15_uc002gld.2_Missense_Mutation_p.T574S|ARHGEF15_uc010vuw.1_Missense_Mutation_p.T463S NM_173728 NP_776089 O94989 ARHGF_HUMAN Rho guanine exchange factor 15 574 DH. negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 CCTGCGCCAGACAGAAGAGGG 0.632 NA 15 141 0 0 0.00499 0 0 MYH8 4626 broad.mit.edu 37 17 10296216 10296216 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:10296216G>A uc002gmm.2 - 37 5490 c.5395C>T c.(5395-5397)CGT>TGT p.R1799C uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1799 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 TCATCTAGACGATGCTGCAGG 0.572 NA Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling 54 175 0 0 0.00361 0 0 MYH2 4620 broad.mit.edu 37 17 10443964 10443964 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:10443964C>A uc010coi.2 - 11 1083 c.955G>T c.(955-957)GGG>TGG p.G319W uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.G319W|MYH2_uc010coj.2_Missense_Mutation_p.G319W NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 319 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CTGATCTCCCCTTGACTGACA 0.383 NA 13 54 0.00400662 0.00480198 0.004007 1 0 DNAH9 1770 broad.mit.edu 37 17 11592912 11592912 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:11592912T>A uc002gne.2 + 20 3841 c.3773T>A c.(3772-3774)CTG>CAG p.L1258Q DNAH9_uc010coo.2_Missense_Mutation_p.L552Q NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1258 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CATCAAATGCTGGATGCCAGG 0.483 NA 42 83 0 0 0.002522 0 0 FAM83G 644815 broad.mit.edu 37 17 18907267 18907267 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:18907267C>T uc002guw.2 - 2 255 c.88G>A c.(88-90)GAG>AAG p.E30K SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 30 ovary(1)|central_nervous_system(1) 2 AGCCGCTGCTCCTCGCTGTAG 0.652 NA 18 46 0 0 0.00499 0 0 WSB1 26118 broad.mit.edu 37 17 25630509 25630509 + Missense_Mutation SNP T T C rs142114425 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:25630509T>C uc002gzd.1 + 3 642 c.326T>C c.(325-327)ATA>ACA p.I109T WSB1_uc010vzy.1_Missense_Mutation_p.I109T|WSB1_uc010vzz.1_Missense_Mutation_p.I78T|WSB1_uc010crf.1_Intron|WSB1_uc002gze.1_Intron|WSB1_uc002gzf.1_RNA NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box-containing 1 isoform 1 109 intracellular signal transduction intracellular protein binding 0 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGTGGAGATATAGTCTGGAGT 0.383 NA 32 123 0 0 0.002445 0 0 WSB1 26118 broad.mit.edu 37 17 25631888 25631888 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:25631888G>T uc002gzd.1 + 4 877 c.561G>T c.(559-561)GTG>GTT p.V187V WSB1_uc010vzy.1_Silent_p.V187V|WSB1_uc010vzz.1_Silent_p.V156V|WSB1_uc010crf.1_Silent_p.V41V|WSB1_uc002gze.1_Silent_p.V41V|WSB1_uc002gzf.1_RNA NM_015626 NP_056441 Q9Y6I7 WSB1_HUMAN WD repeat and SOCS box-containing 1 isoform 1 187 WD 3. intracellular signal transduction intracellular protein binding 0 all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152) BRCA - Breast invasive adenocarcinoma(3;0.0152) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TGATCCTGGTGTCAGCTTCAA 0.378 NA 28 117 6.38683e-12 1.12176e-11 0.008361 1 0 OMG 4974 broad.mit.edu 37 17 29622582 29622582 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:29622582G>T uc002hgj.2 - 2 981 c.768C>A c.(766-768)ACC>ACA p.T256T NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron NM_002544 NP_002535 P23515 OMGP_HUMAN oligodendrocyte myelin glycoprotein precursor 256 Ser/Thr-rich. cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) ATGATATTTGGGTAGAACATG 0.398 NA 15 112 3.27435e-08 5.00479e-08 0.00245 1 0 AMAC1 146861 broad.mit.edu 37 17 33520803 33520803 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:33520803G>T uc002hjd.2 - 1 610 c.524C>A c.(523-525)CCT>CAT p.P175H NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 175 Helical; (Potential). integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CCAGAGTCCAGGTCCCACAAT 0.607 NA 51 218 2.81731e-22 6.15728e-22 0.00361 1 0 CCL4 6351 broad.mit.edu 37 17 34432678 34432678 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:34432678G>T uc002hkw.1 + 3 331 c.252G>T c.(250-252)GAG>GAT p.E84D CCL4_uc002hkx.1_RNA NM_002984 NP_002975 P13236 CCL4_HUMAN chemokine C-C motif ligand 4 isoform 1 84 cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication extracellular space chemokine activity|receptor signaling protein tyrosine kinase activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GGGTCCAGGAGTACGTGTATG 0.502 Colon(139;824 1752 21188 21615 24765) NA 17 122 1.56452e-12 2.78843e-12 0.007413 1 0 MEOX1 4222 broad.mit.edu 37 17 41738726 41738726 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:41738726G>T uc002idz.2 - 1 206 c.177C>A c.(175-177)TAC>TAA p.Y59* MEOX1_uc002iea.2_Nonsense_Mutation_p.Y59*|MEOX1_uc002ieb.2_5'UTR NM_004527 NP_004518 P50221 MEOX1_HUMAN mesenchyme homeobox 1 isoform 1 59 nucleus sequence-specific DNA binding 0 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0753) AGAAGTCAGGGTACGCTGCCG 0.647 NA 11 72 3.86212e-05 5.08284e-05 0.008291 1 0 LRRC37A 9884 broad.mit.edu 37 17 44408380 44408380 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:44408380C>A uc002ikg.2 + 9 3740 c.3737C>A c.(3736-3738)TCT>TAT p.S1246Y ARL17A_uc002iki.3_Intron|ARL17A_uc002ikh.3_Intron|ARL17B_uc002ikf.2_Intron|LRRC37A_uc002ikj.2_Missense_Mutation_p.S207Y|LRRC37A_uc010daw.1_Missense_Mutation_p.S176Y NM_014834 NP_055649 A6NMS7 L37A1_HUMAN leucine rich repeat containing 37A precursor 1246 Extracellular (Potential). integral to membrane 0 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) GCAGCAGTCTCTGTGCTGAAA 0.557 NA 11 18 0.00074312 0.000920326 0.006122 1 0 KIF2B 84643 broad.mit.edu 37 17 51901012 51901012 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:51901012G>T uc002iua.2 + 1 774 c.618G>T c.(616-618)CTG>CTT p.L206L uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 206 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TCTCAGTCCTGGAGCCCCCGC 0.552 NA 10 64 1.58986e-06 2.21938e-06 0.008291 1 0 C17orf71 55181 broad.mit.edu 37 17 57288024 57288024 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:57288024C>G uc002ixi.2 + 1 654 c.612C>G c.(610-612)TTC>TTG p.F204L NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 204 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) TTTACCTATTCTCTGTCTGTC 0.498 NA 13 64 0 0 0.001855 0 0 SCN4A 6329 broad.mit.edu 37 17 62018615 62018615 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:62018615C>A uc002jds.1 - 24 5104 c.5027G>T c.(5026-5028)TGC>TTC p.C1676F NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1676 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GATGTCCAGGCAGTGGATCTT 0.567 NA 23 89 1.85244e-09 2.98243e-09 0.00333 1 0 GPR142 350383 broad.mit.edu 37 17 72368403 72368403 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:72368403G>T uc010wqy.1 + 4 1053 c.1053G>T c.(1051-1053)CGG>CGT p.R351R GPR142_uc010wqx.1_Silent_p.R263R NM_181790 NP_861455 Q7Z601 GP142_HUMAN G protein-coupled receptor 142 351 Cytoplasmic (Potential). cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 TGCAGCCCCGGGTGGGCAAGA 0.632 NA 14 43 2.61681e-11 4.51401e-11 0.00245 1 0 CD300LB 124599 broad.mit.edu 37 17 72527477 72527477 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:72527477G>T uc002jkx.2 - 1 137 c.124C>A c.(124-126)CCT>ACT p.P42T CD300LB_uc010wqz.1_Missense_Mutation_p.P42T NM_174892 NP_777552 A8K4G0 CLM7_HUMAN CD300 molecule-like family member b 5 integral to membrane|plasma membrane receptor activity ovary(1) 1 AGCAGAGCAGGGGGCAGCCAC 0.627 NA 13 47 9.04627e-18 1.8593e-17 0.001855 1 0 CCDC40 55036 broad.mit.edu 37 17 78023992 78023992 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr17:78023992A>T uc010dht.2 + 7 1096 c.1069A>T c.(1069-1071)AGC>TGC p.S357C CCDC40_uc010wub.1_Missense_Mutation_p.S357C|CCDC40_uc002jxm.3_Missense_Mutation_p.S140C NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 357 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AATGGCCTCGAGCGAGCGCAG 0.632 NA 8 22 0 0 0.00308 0 0 ASXL3 80816 broad.mit.edu 37 18 31323602 31323602 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:31323602C>G uc010dmg.1 + 12 3845 c.3790C>G c.(3790-3792)CTA>GTA p.L1264V ASXL3_uc002kxq.2_Missense_Mutation_p.L971V NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1264 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 ATCCTCTGTCCTAATGTCTGT 0.378 NA 19 76 0 0 0.007413 0 0 ZNF397 84307 broad.mit.edu 37 18 32822650 32822650 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:32822650G>C uc010dmp.2 + 2 372 c.216G>C c.(214-216)CAG>CAC p.Q72H ZNF397_uc002kyi.2_Missense_Mutation_p.Q72H|ZNF397_uc010dmq.2_Missense_Mutation_p.Q72H|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Missense_Mutation_p.Q72H|ZNF397_uc002kyk.1_Missense_Mutation_p.Q72H NM_001135178 NP_001128650 Q8NF99 ZN397_HUMAN zinc finger protein 397 isoform 1 72 SCAN box. viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCCGACTCCAGGAACTTTGCT 0.512 NA 13 71 0 0 0.001855 0 0 SYT4 6860 broad.mit.edu 37 18 40853633 40853633 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:40853633A>T uc002law.2 - 2 1130 c.761T>A c.(760-762)ATT>AAT p.I254N SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.I236N|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 254 Phospholipid binding (Probable).|C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 AACTTCCCCAATGATATCATC 0.353 NSCLC(85;81 1419 2855 22820 35912) NA 8 53 0 0 0.00308 0 0 SERPINB5 5268 broad.mit.edu 37 18 61166417 61166417 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:61166417G>A uc002liz.3 + 6 774 c.632G>A c.(631-633)AGT>AAT p.S211N NM_002639 NP_002630 P36952 SPB5_HUMAN serine (or cysteine) proteinase inhibitor, clade 211 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity ovary(1) 1 AACATTGACAGTATCAATTGT 0.423 NA 9 60 0 0 0.006214 0 0 SERPINB13 5275 broad.mit.edu 37 18 61259614 61259614 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:61259614C>A uc002ljc.2 + 4 426 c.258C>A c.(256-258)TTC>TTA p.F86L SERPINB13_uc002ljd.2_5'UTR|SERPINB13_uc010xep.1_Missense_Mutation_p.F95L|SERPINB13_uc010xeq.1_Intron|SERPINB13_uc010xer.1_Intron NM_012397 NP_036529 Q9UIV8 SPB13_HUMAN serine (or cysteine) proteinase inhibitor, clade 86 regulation of proteolysis|response to UV cytoplasm|extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 ATCAACAATTCCAAAAGTTTT 0.353 NA 12 62 0.000151284 0.000193821 0.001855 1 0 SOCS6 9306 broad.mit.edu 37 18 67992886 67992886 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr18:67992886G>T uc002lkr.1 + 2 1298 c.982G>T c.(982-984)GGA>TGA p.G328* SOCS6_uc010dqq.2_Nonsense_Mutation_p.G328* NM_004232 NP_004223 O14544 SOCS6_HUMAN suppressor of cytokine signaling 6 328 defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth cytoplasm large_intestine(1)|lung(1) 2 Esophageal squamous(42;0.129)|Colorectal(73;0.152) GAACTTCAGTGGACTCACTGG 0.493 Melanoma(84;1024 1361 24382 36583 42651) NA 12 53 6.40141e-05 8.33391e-05 0.000978 1 0 ZNF555 148254 broad.mit.edu 37 19 2852695 2852695 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:2852695G>T uc002lwo.2 + 4 721 c.632G>T c.(631-633)CGT>CTT p.R211L ZNF555_uc002lwn.3_Missense_Mutation_p.R210L NM_152791 NP_690004 Q8NEP9 ZN555_HUMAN zinc finger protein 555 211 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCTTTCCTCGTACTTCCTCC 0.448 NA 24 75 2.27525e-19 4.8626e-19 0.003954 1 0 MUC16 94025 broad.mit.edu 37 19 9061138 9061138 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:9061138T>C uc002mkp.2 - 3 26512 c.26308A>G c.(26308-26310)ATC>GTC p.I8770V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8772 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATTCTAGTGATGGTTTCCGTG 0.493 NA 26 96 0 0 0.00632 0 0 MUC16 94025 broad.mit.edu 37 19 9074617 9074617 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:9074617T>A uc002mkp.2 - 3 13033 c.12829A>T c.(12829-12831)ACC>TCC p.T4277S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4279 Thr-rich.|Extracellular (Potential).|Ser-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 ATGTGGGAGGTAACCAATGGA 0.493 NA 17 66 0 0 0.00499 0 0 RAVER1 125950 broad.mit.edu 37 19 10444193 10444193 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:10444193C>T uc002moa.2 - 1 122 c.42G>A c.(40-42)GGG>GGA p.G14G NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 Error:Variant_position_missing_in_Q8IY67_after_alignment cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) TCTTGGGAAACCCGGCGCCTT 0.716 NA 3 22 0 0 0.004672 0 0 ZNF260 339324 broad.mit.edu 37 19 37005408 37005408 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:37005408C>A uc002oee.1 - 4 1577 c.733G>T c.(733-735)GAG>TAG p.E245* ZNF260_uc002oed.1_Nonsense_Mutation_p.E242*|ZNF260_uc010eey.1_Nonsense_Mutation_p.E242*|ZNF260_uc002oef.1_Nonsense_Mutation_p.E242* NM_001012756 NP_001012774 Q3ZCT1 ZN260_HUMAN zinc finger protein 260 245 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) TAAGGTTTCTCTCCTGTGTGA 0.418 NA 30 129 5.90632e-09 9.23221e-09 0.002445 1 0 ZFP36 7538 broad.mit.edu 37 19 39898874 39898874 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:39898874G>A uc002olh.1 + 2 574 c.516G>A c.(514-516)CTG>CTA p.L172L ZFP36_uc010egn.1_Nonsense_Mutation_p.W45* NM_003407 NP_003398 P26651 TTP_HUMAN zinc finger protein 36, C3H type, homolog 172 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding pancreas(1) 1 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) GCGAAGACCTGGCGGCCCCGG 0.662 NSCLC(67;1164 1324 12056 21056 30097) NA 27 122 0 0 0.004656 0 0 ZNF546 339327 broad.mit.edu 37 19 40520110 40520110 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:40520110T>A uc002oms.2 + 7 1189 c.933T>A c.(931-933)AGT>AGA p.S311R ZNF546_uc002omt.2_Missense_Mutation_p.S285R NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 311 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGCCTTTAGTCGTGTTAGAG 0.408 NA 18 109 0 0 0.006122 0 0 APOC4 346 broad.mit.edu 37 19 45448463 45448463 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:45448463G>A uc002pag.1 + 3 325 c.285G>A c.(283-285)CCG>CCA p.P95P APOC2_uc002pah.2_5'Flank NM_001646 NP_001637 P55056 APOC4_HUMAN apolipoprotein C-IV precursor 95 lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis high-density lipoprotein particle|very-low-density lipoprotein particle lipid transporter activity breast(1) 1 Lung NSC(12;0.00858)|all_lung(12;0.0197) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178) ACCTGGGTCCGCTCACCAAGG 0.592 NA 6 298 0 0 0.001984 0 0 FUZ 80199 broad.mit.edu 37 19 50314895 50314895 + Missense_Mutation SNP T T G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:50314895T>G uc002ppq.1 - 4 485 c.380A>C c.(379-381)GAC>GCC p.D127A FUZ_uc002ppr.1_Missense_Mutation_p.D27A|FUZ_uc002pps.1_RNA|FUZ_uc002ppt.1_RNA|FUZ_uc002ppu.1_Missense_Mutation_p.D91A|FUZ_uc002ppv.1_Missense_Mutation_p.D77A|FUZ_uc010ybd.1_Missense_Mutation_p.D127A NM_025129 NP_079405 Q9BT04 FUZZY_HUMAN fuzzy homolog 127 cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway cytoplasm|cytoskeleton 0 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116) CACCCTCAAGTCCTTCTTCAG 0.547 NA 13 495 0 0 0.004007 0 0 BIRC8 112401 broad.mit.edu 37 19 53793473 53793473 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:53793473T>A uc002qbk.2 - 1 1403 c.155A>T c.(154-156)AAG>ATG p.K52M NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 52 BIR. apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) AGGATCTTCCTTGGGCTTCCA 0.428 NA 19 80 0 0 0.006122 0 0 NLRP12 91662 broad.mit.edu 37 19 54310879 54310879 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:54310879G>C uc002qch.3 - 4 2333 c.2113C>G c.(2113-2115)CTG>GTG p.L705V NLRP12_uc010eqw.2_Translation_Start_Site|NLRP12_uc002qci.3_Missense_Mutation_p.L705V|NLRP12_uc002qcj.3_Missense_Mutation_p.L706V|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.L706V NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 705 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GCCGCTGCCAGATGTTCACTG 0.562 NA 11 35 0 0 0.001855 0 0 CNOT3 4849 broad.mit.edu 37 19 54647235 54647235 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:54647235G>A uc002qdj.1 + 4 462 c.151G>A c.(151-153)GAG>AAG p.E51K CNOT3_uc010yel.1_Missense_Mutation_p.E51K|CNOT3_uc002qdi.2_5'UTR|CNOT3_uc002qdk.1_Missense_Mutation_p.E51K|CNOT3_uc010ere.1_5'Flank NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 51 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCTAAAGAAGGAGATTAAGAA 0.393 NA 18 77 0 0 0.007413 0 0 ZSCAN5B 342933 broad.mit.edu 37 19 56704299 56704299 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:56704299C>A uc010ygh.1 - 1 123 c.123G>T c.(121-123)GAG>GAT p.E41D NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 41 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TGTGCCAAGTCTCAGGGTTCC 0.577 NA 9 16 3.09899e-07 4.54957e-07 0.004482 1 0 USP29 57663 broad.mit.edu 37 19 57641649 57641649 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:57641649A>G uc002qny.2 + 4 1962 c.1606A>G c.(1606-1608)AGT>GGT p.S536G NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 536 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(6)|ovary(2)|breast(2)|pancreas(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CAAATCTTTAAGTTTATCTTC 0.423 NA 3 247 0 0 0.004672 0 0 GREB1 9687 broad.mit.edu 37 2 11732998 11732998 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:11732998C>T uc002rbk.1 + 11 1742 c.1442C>T c.(1441-1443)GCG>GTG p.A481V GREB1_uc002rbo.1_Missense_Mutation_p.A115V NM_014668 NP_055483 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 481 integral to membrane ovary(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TACCAGCAGGCGCCGCCGCAG 0.731 Ovarian(39;850 945 2785 23371 33093) NA 4 14 0 0 0.000602 0 0 ACTG2 72 broad.mit.edu 37 2 74146648 74146648 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:74146648C>A uc002sjw.2 + 9 1199 c.1077C>A c.(1075-1077)AGC>AGA p.S359R ACTG2_uc010fey.2_Missense_Mutation_p.S359R|ACTG2_uc010yrn.1_Missense_Mutation_p.S316R NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 359 muscle contraction cytoskeleton|cytosol ATP binding 0 TGTGGATCAGCAAGCCTGAGT 0.532 NA 27 80 8.24728e-16 1.60623e-15 0.004656 1 0 C2orf89 129293 broad.mit.edu 37 2 85051250 85051250 + Silent SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:85051250C>T uc010ysl.1 - 6 1250 c.1161G>A c.(1159-1161)CCG>CCA p.P387P C2orf89_uc002sou.3_Silent_p.P338P NM_001080824 NP_001074293 Q86V40 CB089_HUMAN hypothetical protein LOC129293 precursor 387 Extracellular (Potential). integral to membrane ovary(1) 1 CTTCTGGTGCCGGTACTTCCA 0.587 NA 7 27 0 0 0.004482 0 0 GPAT2 150763 broad.mit.edu 37 2 96687911 96687911 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:96687911C>A uc002svf.2 - 22 2607 c.2384G>T c.(2383-2385)AGC>ATC p.S795I LOC729234_uc010fht.2_Intron|GPAT2_uc002svd.2_Missense_Mutation_p.S614I|GPAT2_uc002sve.2_Missense_Mutation_p.S597I|GPAT2_uc002svg.2_Missense_Mutation_p.S674I|GPAT2_uc010yuh.1_Missense_Mutation_p.S724I|GPAT2_uc002svh.2_3'UTR NM_207328 NP_997211 Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, 795 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity 0 ACAGTTCTAGCTACAAATGAA 0.552 NA 9 38 0.00829132 0.00981546 0.008291 1 0 SLC5A7 60482 broad.mit.edu 37 2 108604753 108604753 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:108604753G>T uc002tdv.2 + 2 418 c.142G>T c.(142-144)GAT>TAT p.D48Y SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.D48Y|SLC5A7_uc010ywn.1_Intron NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 48 Extracellular (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) TGGTGGCCGAGATATTGGTTT 0.527 NA 11 60 1.58986e-06 2.21938e-06 0.008291 1 0 RANBP2 5903 broad.mit.edu 37 2 109383771 109383771 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:109383771G>T uc002tem.3 + 20 6902 c.6776G>T c.(6775-6777)CGT>CTT p.R2259L NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2259 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AATCTTTTCCGTTTTGGTGAG 0.408 NA 80 507 4.21487e-37 9.69421e-37 0.00361 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125232346 125232346 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:125232346A>T uc002tno.2 + 7 1313 c.949A>T c.(949-951)AAA>TAA p.K317* CNTNAP5_uc010flu.2_Nonsense_Mutation_p.K317* NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 317 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AGTACCAGGAAAACCTGGGAC 0.368 NA 7 22 0 0 0.001984 0 0 YSK4 80122 broad.mit.edu 37 2 135779380 135779380 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:135779380G>T uc002tue.1 - 2 74 c.43C>A c.(43-45)CTT>ATT p.L15I YSK4_uc010fne.1_5'UTR|YSK4_uc002tuf.1_Missense_Mutation_p.L15I|YSK4_uc010fnc.1_Missense_Mutation_p.L15I|YSK4_uc010fnd.1_Missense_Mutation_p.L15I|YSK4_uc010zbg.1_Missense_Mutation_p.L15I|YSK4_uc002tui.3_Missense_Mutation_p.L32I NM_025052 NP_079328 Q56UN5 YSK4_HUMAN Yeast Sps1/Ste20-related kinase 4 isoform 1 15 ATP binding|protein serine/threonine kinase activity stomach(2)|urinary_tract(1)|ovary(1)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(221;0.112) CAAATGTCAAGCAATGACTCA 0.338 NA 10 63 1.08611e-07 1.62412e-07 0.000978 1 0 LRP1B 53353 broad.mit.edu 37 2 141093256 141093256 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:141093256C>T uc002tvj.1 - 78 13016 c.12044G>A c.(12043-12045)GGC>GAC p.G4015D NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4015 Extracellular (Potential).|LDL-receptor class B 34. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GCAGTTGGGGCCATTCAGCTG 0.418 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 51 149 0 0 0.00361 0 0 KIF5C 3800 broad.mit.edu 37 2 149840154 149840154 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:149840154G>T uc010zbu.1 + 15 1958 c.1590G>T c.(1588-1590)CAG>CAT p.Q530H KIF5C_uc002tws.1_RNA|KIF5C_uc002twt.2_Missense_Mutation_p.Q82H NM_004522 NP_004513 O60282 KIF5C_HUMAN kinesin family member 5C 530 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.108) CAACCACACAGAGAGAGCTGA 0.413 NA 9 50 7.48243e-07 1.06608e-06 0.006214 1 0 C2orf77 129881 broad.mit.edu 37 2 170502572 170502572 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:170502572C>T uc002ufe.2 - 9 1532 c.1438G>A c.(1438-1440)GAA>AAA p.E480K NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 480 Potential. 0 GATTCAAGTTCAATTACCTCT 0.413 NA 9 397 0 0 0.004482 0 0 ATP5G3 518 broad.mit.edu 37 2 176043042 176043042 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:176043042C>G uc002ujz.3 - 4 673 c.403G>C c.(403-405)GCT>CCT p.A135P ATP5G3_uc002uka.3_Missense_Mutation_p.A135P|ATP5G3_uc002ukb.1_3'UTR NM_001002258 NP_001002258 P48201 AT5G3_HUMAN ATP synthase, H+ transporting, mitochondrial F0 135 Helical; (Potential). ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding|protein binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.147) ATCAAGAAAGCAACCATCAAA 0.398 GBM(30;387 605 18606 28805 47989) NA 15 110 0 0 0.003163 0 0 ZNF804A 91752 broad.mit.edu 37 2 185801850 185801850 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:185801850A>C uc002uph.2 + 4 2321 c.1727A>C c.(1726-1728)AAA>ACA p.K576T NM_194250 NP_919226 Q7Z570 Z804A_HUMAN zinc finger protein 804A 576 intracellular zinc ion binding ovary(6)|skin(3)|large_intestine(1)|pancreas(1) 11 CTAGATGAAAAATACAACAAA 0.303 NA 3 80 0 0 0.004672 0 0 COL3A1 1281 broad.mit.edu 37 2 189859522 189859522 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:189859522G>T uc002uqj.1 + 20 1537 c.1420G>T c.(1420-1422)GGT>TGT p.G474C NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 474 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) TGGAGAACCTGGTGCAAATGG 0.448 NA 12 93 7.93312e-07 1.12697e-06 0.00245 1 0 COL3A1 1281 broad.mit.edu 37 2 189873907 189873907 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:189873907C>G uc002uqj.1 + 48 3900 c.3783C>G c.(3781-3783)AAC>AAG p.N1261K NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1261 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CCGCTAGAAACTGCAGAGACC 0.403 NA 4 136 0 0 0.000248 0 0 SF3B1 23451 broad.mit.edu 37 2 198265462 198265462 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:198265462C>A uc002uue.2 - 18 2743 c.2695G>T c.(2695-2697)GCT>TCT p.A899S NM_012433 NP_036565 O75533 SF3B1_HUMAN splicing factor 3b, subunit 1 isoform 1 899 nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex protein binding pancreas(3)|ovary(1)|breast(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.246) TCTTGGAAAGCATAAAGAATA 0.313 NA 11 78 4.36969e-10 7.25279e-10 0.001855 1 0 ADAM23 8745 broad.mit.edu 37 2 207460798 207460798 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:207460798C>A uc002vbq.2 + 24 2494 c.2271C>A c.(2269-2271)TGC>TGA p.C757* ADAM23_uc010ziv.1_Intron NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 757 EGF-like.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AAGCCACCTGCATTTGTGATT 0.433 Melanoma(194;1127 2130 19620 24042 27855) NA 8 49 3.09899e-07 4.54957e-07 0.004482 1 0 PIKFYVE 200576 broad.mit.edu 37 2 209142361 209142361 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:209142361G>T uc002vcz.2 + 5 700 c.542G>T c.(541-543)CGA>CTA p.R181L PIKFYVE_uc010fun.1_Intron|PIKFYVE_uc002vcy.1_Missense_Mutation_p.R181L|PIKFYVE_uc002vcv.2_Intron|PIKFYVE_uc002vcw.2_Missense_Mutation_p.R181L|PIKFYVE_uc002vcx.2_Intron NM_015040 NP_055855 Q9Y2I7 FYV1_HUMAN phosphatidylinositol-3-phosphate 5-kinase type 181 FYVE-type. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1) 10 CACCATTGCCGACTATGTGGG 0.403 NA 34 121 2.42023e-17 4.8911e-17 0.003271 1 0 CPS1 1373 broad.mit.edu 37 2 211513216 211513216 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:211513216C>T uc002vee.3 + 27 3488 c.3356C>T c.(3355-3357)GCA>GTA p.A1119V CPS1_uc010fur.2_Missense_Mutation_p.A1125V|CPS1_uc010fus.2_Missense_Mutation_p.A668V NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1119 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CTGGAATTTGCAAAGTCTGTG 0.323 NA 24 140 0 0 0.004656 0 0 OBSL1 23363 broad.mit.edu 37 2 220422763 220422763 + Missense_Mutation SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:220422763A>G uc010fwk.2 - 11 3629 c.3572T>C c.(3571-3573)GTG>GCG p.V1191A OBSL1_uc002vmh.1_Missense_Mutation_p.V182A|OBSL1_uc010zli.1_Missense_Mutation_p.V90A|OBSL1_uc010fwl.1_Missense_Mutation_p.V666A NM_015311 NP_056126 O75147 OBSL1_HUMAN obscurin-like 1 1191 Ig-like 10. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity 0 Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GCTCAGCACCACTGGCTCCCC 0.647 NA 5 36 0 0 0.000602 0 0 SCG2 7857 broad.mit.edu 37 2 224462975 224462975 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:224462975A>T uc002vnm.2 - 2 1159 c.1026T>A c.(1024-1026)CCT>CCA p.P342P NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 342 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GAGAATCAAGAGGTTTCTCAA 0.418 NA 19 152 0 0 0.007413 0 0 MFF 56947 broad.mit.edu 37 2 228205013 228205013 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:228205013A>T uc002vos.2 + 6 853 c.435A>T c.(433-435)CGA>CGT p.R145R MFF_uc002vot.2_Silent_p.R119R|MFF_uc002vou.2_Silent_p.R145R|MFF_uc002vov.2_Silent_p.R119R|MFF_uc002vow.2_Silent_p.R119R|MFF_uc002vox.2_Silent_p.R119R|MFF_uc002voy.2_Silent_p.R145R|MFF_uc002voz.2_Silent_p.R119R NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 145 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 AACAGATCCGAGCAGTTGGCA 0.428 NA 14 55 0 0 0.00245 0 0 ATG16L1 55054 broad.mit.edu 37 2 234200895 234200895 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:234200895C>T uc002vty.2 + 15 1809 c.1552C>T c.(1552-1554)CGA>TGA p.R518* ATG16L1_uc002vtx.1_Nonsense_Mutation_p.R355*|ATG16L1_uc002vua.2_Nonsense_Mutation_p.R499*|ATG16L1_uc002vub.2_Nonsense_Mutation_p.R376*|ATG16L1_uc002vtz.2_Nonsense_Mutation_p.R339*|ATG16L1_uc002vud.3_Nonsense_Mutation_p.R434* NM_030803 NP_110430 Q676U5 A16L1_HUMAN APG16 autophagy 16-like isoform 1 518 WD 5. autophagic vacuole assembly|protein homooligomerization|protein transport autophagic vacuole|pre-autophagosomal structure membrane protein binding 0 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539) Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11) TATTGATCTCCGAACAAATGC 0.502 NA 16 56 0 0 0.003163 0 0 AGAP1 116987 broad.mit.edu 37 2 236706518 236706518 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:236706518G>T uc002vvs.2 + 7 1384 c.789G>T c.(787-789)GTG>GTT p.V263V AGAP1_uc002vvt.2_Silent_p.V263V NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 263 Small GTPase-like. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 TGTCTGCCGTGCACATCAGCC 0.493 NA 42 205 1.62957e-23 3.61047e-23 0.00874 1 0 SIRPA 140885 broad.mit.edu 37 20 1895886 1895886 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:1895886C>A uc002wfq.2 + 3 581 c.221C>A c.(220-222)CCA>CAA p.P74Q SIRPA_uc010zps.1_Missense_Mutation_p.P54Q|SIRPA_uc002wfr.2_Missense_Mutation_p.P74Q|SIRPA_uc002wfs.2_Missense_Mutation_p.P74Q|SIRPA_uc002wft.2_Missense_Mutation_p.P74Q NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 74 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGAGCTGGACCAGGCCGGGAA 0.537 GBM(155;1668 1920 5945 42733 48121) NA 20 100 1.55795e-14 2.92797e-14 0.001882 1 0 MCM8 84515 broad.mit.edu 37 20 5958578 5958578 + Silent SNP C C T rs113442872 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:5958578C>T uc002wmi.2 + 13 1829 c.1452C>T c.(1450-1452)ACC>ACT p.T484T MCM8_uc002wmj.2_Silent_p.T468T|MCM8_uc002wmk.2_Silent_p.T524T|MCM8_uc002wml.2_Silent_p.T484T|MCM8_uc010gbp.2_Silent_p.T437T|MCM8_uc002wmm.2_Silent_p.T22T NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 484 Thr-rich.|MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 CCACGACCACCTCTGGTCTGA 0.473 NA 15 59 0 0 0.003163 0 0 PLCB4 5332 broad.mit.edu 37 20 9374320 9374320 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:9374320A>T uc002wnf.2 + 17 1545 c.1409A>T c.(1408-1410)GAA>GTA p.E470V PLCB4_uc010gbw.1_Missense_Mutation_p.E470V|PLCB4_uc010gbx.2_Missense_Mutation_p.E470V|PLCB4_uc002wne.2_Missense_Mutation_p.E470V|PLCB4_uc002wnh.2_Missense_Mutation_p.E317V NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 470 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 CCTGAAGTTGAAAAAAGTAAG 0.363 NA OREG0025771 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 0 0 0.00278 0 0 PLCB4 5332 broad.mit.edu 37 20 9438112 9438112 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:9438112G>C uc002wnf.2 + 32 3148 c.3012G>C c.(3010-3012)ACG>ACC p.T1004T PLCB4_uc010gbw.1_Silent_p.T1004T|PLCB4_uc010gbx.2_Silent_p.T1016T|PLCB4_uc002wne.2_Silent_p.T1004T|PLCB4_uc002wnh.2_Silent_p.T851T NM_182797 NP_877949 Q15147 PLCB4_HUMAN phospholipase C beta 4 isoform b 1004 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity skin(11)|ovary(3)|pancreas(1) 15 AAATTCAGACGCTGACATCAG 0.348 NA 15 73 0 0 0.006122 0 0 KIF16B 55614 broad.mit.edu 37 20 16352333 16352333 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:16352333T>A uc002wpg.1 - 21 3582 c.3424A>T c.(3424-3426)AGT>TGT p.S1142C KIF16B_uc002wpe.1_Missense_Mutation_p.S524C|KIF16B_uc002wpf.1_Missense_Mutation_p.S524C|KIF16B_uc010gch.1_Missense_Mutation_p.S1091C|KIF16B_uc010gci.1_Missense_Mutation_p.S1142C NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 1142 cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 GCAGATGTACTGCAGCCTTCA 0.368 NA 26 61 0 0 0.00632 0 0 ZNF133 7692 broad.mit.edu 37 20 18297153 18297153 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:18297153G>T uc010gcq.2 + 5 1963 c.1658G>T c.(1657-1659)AGG>ATG p.R553M ZNF133_uc010zrv.1_Missense_Mutation_p.R556M|ZNF133_uc010zrw.1_Missense_Mutation_p.R490M|ZNF133_uc010gcr.2_Missense_Mutation_p.R553M|ZNF133_uc010zrx.1_Missense_Mutation_p.R458M|ZNF133_uc002wql.3_Missense_Mutation_p.R552M|ZNF133_uc010gcs.2_Missense_Mutation_p.R552M|ZNF133_uc010zry.1_Missense_Mutation_p.R458M|ZNF133_uc002wqm.2_Missense_Mutation_p.R553M NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 553 C2H2-type 13. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 TACATGTGCAGGCAGTGTGGA 0.582 NA 11 73 0.00010058 0.000129202 0.001368 1 0 PTPRT 11122 broad.mit.edu 37 20 41306576 41306576 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:41306576G>C uc002xkg.2 - 7 1267 c.1083C>G c.(1081-1083)CTC>CTG p.L361L PTPRT_uc010ggj.2_Silent_p.L361L NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 361 Extracellular (Potential).|Fibronectin type-III 1. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GTCGTGTGAGGAGCACTCGGA 0.572 NA 8 138 0 0 0.004482 0 0 JPH2 57158 broad.mit.edu 37 20 42815287 42815288 + Missense_Mutation DNP CC CC AA TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:42815287_42815288CC>AA uc002xli.1 - 1 931_932 c.58_59GG>TT c.(58-60)GGG>TTG p.G20L JPH2_uc002xlj.2_Missense_Mutation_p.G20L NM_020433 NP_065166 Q9BR39 JPH2_HUMAN junctophilin 2 isoform 1 20 MORN 1.|Gly-rich.|Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane 0 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GGCCTTTCCCCCCTCCCAGCCC 0.629 NA 13 32 0 0 0.004672 0 0 EYA2 2139 broad.mit.edu 37 20 45633640 45633640 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:45633640C>A uc002xsm.2 + 4 589 c.215C>A c.(214-216)ACG>AAG p.T72K EYA2_uc010ghp.2_Missense_Mutation_p.T72K|EYA2_uc002xsn.2_Missense_Mutation_p.T77K|EYA2_uc002xso.2_Missense_Mutation_p.T72K|EYA2_uc002xsp.2_Missense_Mutation_p.T72K|EYA2_uc002xsq.2_Missense_Mutation_p.T72K NM_005244 NP_005235 O00167 EYA2_HUMAN eyes absent 2 isoform a 72 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity ovary(1) 1 Myeloproliferative disorder(115;0.0241) TACGGCCAGACGCAGTACAGT 0.562 Pancreas(120;56 1725 18501 25218 43520) NA 31 137 3.57733e-08 5.43349e-08 0.001786 1 0 SNAI1 6615 broad.mit.edu 37 20 48600678 48600678 + Nonsense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:48600678C>T uc002xuz.2 + 2 470 c.400C>T c.(400-402)CAA>TAA p.Q134* NM_005985 NP_005976 O95863 SNAI1_HUMAN snail 1 homolog 134 Required for FBXL14-triggered degradation. epithelial to mesenchymal transition|mesoderm formation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent cytoplasm|nucleus kinase binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;4.03e-06) AGGCTTGGGCCAAGTGCCCAA 0.607 NA 23 74 0 0 0.001882 0 0 TSHZ2 128553 broad.mit.edu 37 20 51871779 51871780 + Missense_Mutation DNP GG GG AT TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:51871779_51871780GG>AT uc002xwo.2 + 2 2738_2739 c.1782_1783GG>AT c.(1780-1785)CTGGCC>CTATCC p.A595S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 595 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CCACACACCTGGCCCCTTACAC 0.515 NA 29 150 0 0 0.004672 0 0 DIDO1 11083 broad.mit.edu 37 20 61528277 61528277 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:61528277C>A uc002ydr.1 - 7 1924 c.1660G>T c.(1660-1662)GGC>TGC p.G554C DIDO1_uc002yds.1_Missense_Mutation_p.G554C|DIDO1_uc002ydt.1_Missense_Mutation_p.G554C|DIDO1_uc002ydu.1_Missense_Mutation_p.G554C NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 554 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) ACCGCGGAGCCTGGAGGGGCT 0.552 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 8 57 2.17888e-05 2.89917e-05 0.006214 1 0 RTEL1 51750 broad.mit.edu 37 20 62292695 62292695 + Silent SNP G G C rs114124243 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr20:62292695G>C uc002yfu.1 + 3 490 c.147G>C c.(145-147)ACG>ACC p.T49T RTEL1_uc011abc.1_RNA|RTEL1_uc002yft.1_Silent_p.T49T|RTEL1_uc011abd.1_Silent_p.T49T|RTEL1_uc002yfv.2_Silent_p.T49T|RTEL1_uc011abe.1_5'UTR|RTEL1_uc002yfw.2_RNA NM_016434 NP_057518 Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 49 Helicase ATP-binding.|ATP (Probable). DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding 0 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) CAGGGAAGACGCTGTGCCTGC 0.627 NA 13 52 0 0 0.003163 0 0 LIPI 149998 broad.mit.edu 37 21 15561488 15561488 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:15561488A>T uc002yjm.2 - 2 372 c.362T>A c.(361-363)TTG>TAG p.L121* LIPI_uc010gkw.1_Nonsense_Mutation_p.L54* NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 100 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TTCATTCAGCAAAATCCTTAC 0.373 NA 8 61 0 0 0.00308 0 0 SAMSN1 64092 broad.mit.edu 37 21 15872992 15872992 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:15872992T>C uc002yju.1 - 6 708 c.626A>G c.(625-627)AAT>AGT p.N209S SAMSN1_uc010gky.1_Missense_Mutation_p.N41S|SAMSN1_uc002yjv.1_Missense_Mutation_p.N277S NM_022136 NP_071419 Q9NSI8 SAMN1_HUMAN SAM domain, SH3 domain and nuclear localization 209 SH3. negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation cytoplasm|nucleus|ruffle phosphotyrosine binding ovary(3)|pancreas(1) 4 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164) TCCCACTTTATTGTTCAACAT 0.383 NA 23 130 0 0 0.002299 0 0 USP16 10600 broad.mit.edu 37 21 30403014 30403014 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:30403014G>T uc002ymy.2 + 3 362 c.160G>T c.(160-162)GAC>TAC p.D54Y USP16_uc002ymx.2_Missense_Mutation_p.D54Y|USP16_uc002ymw.2_Missense_Mutation_p.D54Y|USP16_uc011acm.1_Missense_Mutation_p.D40Y|USP16_uc011acn.1_Intron NM_006447 NP_006438 Q9Y5T5 UBP16_HUMAN ubiquitin specific protease 16 isoform a 54 cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(2)|breast(1)|pancreas(1) 4 CTGTAAGACTGACAATAAAGT 0.373 Melanoma(92;625 1444 27493 34101 44971) NA 11 66 0.00136819 0.00166458 0.001368 1 0 KRTAP15-1 254950 broad.mit.edu 37 21 31812741 31812741 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:31812741C>G uc002yod.2 + 1 96 c.96C>G c.(94-96)AGC>AGG p.S32R NM_181623 NP_853654 Q3LI76 KR151_HUMAN keratin associated protein 15-1 32 intermediate filament 0 TCTACCCCAGCAATGCCATCT 0.478 NA 18 96 0 0 0.00499 0 0 PCNT 5116 broad.mit.edu 37 21 47783460 47783460 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr21:47783460G>A uc002zji.3 + 14 2327 c.2220G>A c.(2218-2220)CTG>CTA p.L740L PCNT_uc002zjj.2_Silent_p.L622L NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 740 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) AGACTGAGCTGATGAAACAGG 0.388 NA 39 137 0 0 0.004289 0 0 MED15 51586 broad.mit.edu 37 22 20922826 20922826 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:20922826G>T uc002zsp.2 + 8 1140 c.1060G>T c.(1060-1062)GTG>TTG p.V354L MED15_uc002zsq.2_Missense_Mutation_p.V354L|MED15_uc010gso.2_Missense_Mutation_p.V354L|MED15_uc002zsr.2_Missense_Mutation_p.V328L|MED15_uc011ahs.1_Missense_Mutation_p.V328L|MED15_uc002zss.2_Missense_Mutation_p.V273L|MED15_uc011ahu.1_Missense_Mutation_p.V80L NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 354 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) TCCGATGGTGGTGCAGCAGCC 0.597 NA 4 27 1.23904e-05 1.66701e-05 0.000602 1 0 PI4KA 5297 broad.mit.edu 37 22 21178643 21178643 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:21178643C>A uc002zsz.3 - 4 484 c.253G>T c.(253-255)GCC>TCC p.A85S PI4KA_uc010gsq.1_Missense_Mutation_p.A143S NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 85 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission Golgi-associated vesicle 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding lung(2)|upper_aerodigestive_tract(1)|salivary_gland(1) 4 all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) TCCCTATAGGCCACATCAGAC 0.433 GBM(136;1332 1831 3115 23601 50806) NA 6 59 0.00307968 0.00370021 0.00308 1 0 LZTR1 8216 broad.mit.edu 37 22 21343151 21343151 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:21343151G>T uc002zto.2 + 6 686 c.583G>T c.(583-585)GGC>TGC p.G195C LZTR1_uc002ztn.2_Missense_Mutation_p.G154C|LZTR1_uc011ahy.1_Missense_Mutation_p.G176C|LZTR1_uc010gsr.1_Missense_Mutation_p.G66C NM_006767 NP_006758 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 195 Kelch 3. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity ovary(2)|lung(2) 4 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGGCTATGACGGCAACGCCAG 0.637 NA 29 86 1.39806e-14 2.63774e-14 0.008361 1 0 TPST2 8459 broad.mit.edu 37 22 26937214 26937214 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:26937214A>C uc003acv.2 - 2 551 c.383T>G c.(382-384)GTG>GGG p.V128G TPST2_uc003acw.2_Missense_Mutation_p.V128G|TPST2_uc003acx.2_Missense_Mutation_p.V128G|TPST2_uc011akf.1_Missense_Mutation_p.V128G NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 128 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 CTCATCCGTCACCCCCGCCTC 0.672 NA 7 17 0 0 0.00499 0 0 EWSR1 2130 broad.mit.edu 37 22 29664333 29664333 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:29664333C>T uc003aet.2 + 1 336 c.8C>T c.(7-9)TCC>TTC p.S3F RHBDD3_uc003aeq.1_5'Flank|RHBDD3_uc003aer.1_5'Flank|EWSR1_uc003aes.3_Missense_Mutation_p.S3F|EWSR1_uc003aev.2_Missense_Mutation_p.S3F|EWSR1_uc003aew.2_Missense_Mutation_p.S3F|EWSR1_uc003aex.2_Missense_Mutation_p.S3F NM_005243 NP_005234 Q01844 EWS_HUMAN Ewing sarcoma breakpoint region 1 isoform 2 3 EAD (Gln/Pro/Thr-rich). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane calmodulin binding|nucleotide binding|RNA binding|zinc ion binding EWSR1/FLI1(2266)|EWSR1/ATF1(323)|EWSR1/WT1(231)|EWSR1/ERG(162)|EWSR1/NR4A3(140)|EWSR1/DDIT3(43)|EWSR1/CREB1(42)|EWSR1/FEV(10)|EWSR1/POU5F1(10)|EWSR1/ETV1(7)|EWSR1/ETV4(6)|EWSR1/ZNF384(4)|EWSR1/PBX1(3)|EWSR1/SP3(3)|EWSR1/PATZ1(2) bone(2526)|soft_tissue(702)|skin(8)|autonomic_ganglia(4)|haematopoietic_and_lymphoid_tissue(4)|salivary_gland(2)|central_nervous_system(2)|NS(2)|pancreas(2)|lung(1)|ovary(1) 3254 AAAATGGCGTCCACGGGTGAG 0.483 NA T FLI1|ERG|ZNF278|NR4A3|FEV|ATF1|ETV1|ETV4|WT1|ZNF384|CREB1|POU5F1| PBX1 Ewing sarcoma| desmoplastic small round cell tumor |ALL|clear cell sarcoma|sarcoma|myoepithelioma 5 214 0 0 0.001168 0 0 AP1B1 162 broad.mit.edu 37 22 29737726 29737726 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:29737726C>A uc003afj.2 - 13 1744 c.1560G>T c.(1558-1560)CGG>CGT p.R520R AP1B1_uc003afi.2_Silent_p.R520R|AP1B1_uc003afk.2_Silent_p.R520R|AP1B1_uc003afl.2_Silent_p.R520R|AP1B1_uc011ako.1_Silent_p.R73R NM_001127 NP_001118 Q10567 AP1B1_HUMAN adaptor-related protein complex 1 beta 1 subunit 520 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding|protein transporter activity ovary(1)|skin(1) 2 AGCCACGGTCCCGCAGGTCTG 0.597 NA 8 47 0.000157383 0.00020057 0.00308 1 0 OSBP2 23762 broad.mit.edu 37 22 31285535 31285535 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:31285535G>A uc003aiy.1 + 7 1639 c.1535G>A c.(1534-1536)CGC>CAC p.R512H OSBP2_uc011ala.1_Missense_Mutation_p.R346H|OSBP2_uc010gwc.1_Missense_Mutation_p.R339H|OSBP2_uc011alb.1_Intron|OSBP2_uc003aiz.1_Missense_Mutation_p.R511H|OSBP2_uc003aja.1_Missense_Mutation_p.R145H|OSBP2_uc011alc.1_Missense_Mutation_p.R254H|OSBP2_uc003ajb.2_Missense_Mutation_p.R57H|OSBP2_uc011ald.1_Missense_Mutation_p.R56H|OSBP2_uc010gwd.1_Missense_Mutation_p.R57H NM_030758 NP_110385 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 isoform a 512 lipid transport membrane lipid binding breast(1)|skin(1) 2 AGGCGAGTCCGCATTCCCAAC 0.597 NA 5 199 0 0 0.000602 0 0 SYN3 8224 broad.mit.edu 37 22 33260992 33260992 + Splice_Site SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:33260992C>A uc003amx.2 - 5 781 c.622_splice c.e5-1 p.F208_splice SYN3_uc003amy.2_Splice_Site_p.F208_splice|SYN3_uc003amz.2_Splice_Site_p.F207_splice NM_003490 NP_003481 O14994 SYN3_HUMAN synapsin III isoform IIIa neurotransmitter secretion cell junction|synaptic vesicle membrane ATP binding|ligase activity skin(1) 1 GCTGAGAGAACTAGGATAGAA 0.473 NA 25 150 6.12954e-19 1.28163e-18 0.004656 1 0 APOL4 80832 broad.mit.edu 37 22 36587606 36587606 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:36587606G>C uc003aox.2 - 6 798 c.573C>G c.(571-573)ATC>ATG p.I191M APOL4_uc003aow.2_Missense_Mutation_p.I188M|APOL4_uc010gww.2_Missense_Mutation_p.I33M NM_145660 NP_663693 Q9BPW4 APOL4_HUMAN apolipoprotein L4 isoform 2 precursor 191 lipid metabolic process|lipid transport|lipoprotein metabolic process extracellular region lipid binding 0 TGTTCTCCACGATGCTGGAGG 0.547 NA 10 23 0 0 0.006214 0 0 CBX6 23466 broad.mit.edu 37 22 39262426 39262426 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:39262426C>A uc003awl.2 - 5 1090 c.1027G>T c.(1027-1029)GCC>TCC p.A343S NM_014292 NP_055107 O95503 CBX6_HUMAN chromobox homolog 6 343 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex 0 Melanoma(58;0.04) GGCTCAGGGGCCGTGGGAGGT 0.716 NA 7 29 8.12818e-05 0.000105252 0.001984 1 0 MPPED1 758 broad.mit.edu 37 22 43821177 43821177 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr22:43821177C>A uc011apv.1 + 2 409 c.186C>A c.(184-186)AAC>AAA p.N62K MPPED1_uc011apw.1_Intron|MPPED1_uc011apx.1_Intron|MPPED1_uc011apy.1_Missense_Mutation_p.N62K|MPPED1_uc011apz.1_Missense_Mutation_p.N95K NM_001044370 NP_001037835 O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 62 hydrolase activity 0 all_neural(38;0.0244)|Ovarian(80;0.0694) CCTTCTACAACATCAACCAGG 0.662 NA 7 34 1.76689e-08 2.72655e-08 0.006214 1 0 NUP210 23225 broad.mit.edu 37 3 13417095 13417095 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:13417095T>A uc003bxv.1 - 11 1423 c.1340A>T c.(1339-1341)GAG>GTG p.E447V NUP210_uc003bxx.2_Missense_Mutation_p.E119V NM_024923 NP_079199 Q8TEM1 PO210_HUMAN nucleoporin 210 precursor 447 Lumenal (Probable). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore ovary(3)|large_intestine(3)|skin(3)|pancreas(1)|liver(1) 11 all_neural(104;0.187) AATTTCCACCTCCTGCTGGTT 0.527 NA 27 121 0 0 0.002096 0 0 GALNTL2 117248 broad.mit.edu 37 3 16268973 16268973 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:16268973G>A uc003car.3 + 10 2361 c.1886G>A c.(1885-1887)CGT>CAT p.R629H GALNTL2_uc003caq.3_Missense_Mutation_p.R362H|GALNTL2_uc003cas.3_Missense_Mutation_p.R159H NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 629 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CAGCAGTGGCGTTTTGACCAG 0.443 NA 9 77 0 0 0.001368 0 0 ZNF385D 79750 broad.mit.edu 37 3 21606170 21606170 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:21606170G>T uc003cce.2 - 3 580 c.172C>A c.(172-174)CCG>ACG p.P58T ZNF385D_uc010hfb.1_RNA NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 58 nucleus nucleic acid binding|zinc ion binding large_intestine(2)|skin(2)|ovary(1) 5 TTCTGAATCGGGTCCATCTGT 0.358 NA 13 57 4.3838e-07 6.33945e-07 0.001855 1 0 CYP8B1 1582 broad.mit.edu 37 3 42916116 42916116 + Missense_Mutation SNP G G T rs141302264 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:42916116G>T uc003cmh.2 - 1 1518 c.1193C>A c.(1192-1194)CCT>CAT p.P398H CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.P398H NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 398 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GGTGGGCTCAGGGTGGATGTC 0.547 NA 34 142 1.67305e-13 3.10801e-13 0.00623 1 0 KIF15 56992 broad.mit.edu 37 3 44867888 44867888 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:44867888G>T uc003cnx.3 + 22 2871 c.2722G>T c.(2722-2724)GCA>TCA p.A908S KIF15_uc010hiq.2_Missense_Mutation_p.A811S|KIF15_uc010hir.2_5'UTR NM_020242 NP_064627 Q9NS87 KIF15_HUMAN kinesin family member 15 908 Potential. blood coagulation|cell proliferation|microtubule-based movement|mitosis centrosome|cytosol|microtubule|plus-end kinesin complex|spindle ATP binding|DNA binding|microtubule motor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707) GCTTCTTGAGGCAGAAAAAGA 0.254 NA 8 46 7.48243e-07 1.06608e-06 0.006214 1 0 FBXW12 285231 broad.mit.edu 37 3 48416855 48416855 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:48416855G>T uc003csr.2 + 5 484 c.298G>T c.(298-300)GAG>TAG p.E100* FBXW12_uc010hjv.2_Nonsense_Mutation_p.E81*|FBXW12_uc003css.2_Nonsense_Mutation_p.E100*|FBXW12_uc010hjw.2_Nonsense_Mutation_p.E21* NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 isoform 100 WD 1. 0 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) ATTTGAGACGGAGTTGGCTTA 0.393 NA 9 69 9.70103e-10 1.58297e-09 0.008291 1 0 BSN 8927 broad.mit.edu 37 3 49694474 49694474 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:49694474G>A uc003cxe.3 + 5 7599 c.7485G>A c.(7483-7485)TTG>TTA p.L2495L NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 2495 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CTGCTGAGTTGGCCCAGAATG 0.527 NA 8 32 0 0 0.00308 0 0 CACNA1D 776 broad.mit.edu 37 3 53752403 53752403 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:53752403G>T uc003dgv.3 + 10 1629 c.1466G>T c.(1465-1467)TGT>TTT p.C489F CACNA1D_uc003dgu.3_Missense_Mutation_p.C489F|CACNA1D_uc003dgy.3_Missense_Mutation_p.C489F|CACNA1D_uc003dgw.3_Missense_Mutation_p.C136F NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 489 Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CGAGGCTGCTGTGGAAGTCTC 0.597 NA 4 50 0.00024832 0.000313975 0.000248 1 0 WNT5A 7474 broad.mit.edu 37 3 55504432 55504433 + Missense_Mutation DNP CC CC AA TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:55504432_55504433CC>AA uc003dhn.2 - 5 1148_1149 c.830_831GG>TT c.(829-831)CGG>CTT p.R277L WNT5A_uc003dhm.2_Missense_Mutation_p.R262L|WNT5A_uc010hmw.2_Missense_Mutation_p.R262L|WNT5A_uc010hmx.2_Missense_Mutation_p.R188L NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 277 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) GGCTGTTGAGCCGCATGGCCGC 0.614 NA 3 18 0 0 0.004672 0 0 FAM55C 91775 broad.mit.edu 37 3 101520396 101520396 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:101520396G>T uc003dvn.2 + 5 1048 c.411G>T c.(409-411)AAG>AAT p.K137N FAM55C_uc010hpn.2_Missense_Mutation_p.K137N NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 137 extracellular region ovary(1)|pancreas(1)|skin(1) 3 GAAAGCCCAAGAAGTATGGTG 0.512 NA 11 65 3.86212e-05 5.08284e-05 0.008291 1 0 C3orf27 23434 broad.mit.edu 37 3 128292497 128292497 + Missense_Mutation SNP C C T rs141693917 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:128292497C>T uc003ekq.2 - 3 1043 c.76G>A c.(76-78)GTC>ATC p.V26I NM_007354 NP_031380 O15544 GR6_HUMAN putative GR6 protein 26 0 GBM - Glioblastoma multiforme(114;0.176) AGGCGGGAGACGCTGAGTCTA 0.592 NA 10 28 0 0 0.000978 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567310 142567310 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:142567310G>T uc003evd.2 - 3 393 c.197C>A c.(196-198)CCC>CAC p.P66H NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 66 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 TTTTCCTTCGGGAACCTGCCA 0.413 NA 21 63 8.04996e-18 1.66159e-17 0.001882 1 0 TM4SF1 4071 broad.mit.edu 37 3 149093324 149093324 + Missense_Mutation SNP A A T rs140811683 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:149093324A>T uc003exb.1 - 3 553 c.319T>A c.(319-321)TGT>AGT p.C107S TM4SF1_uc003exc.1_Missense_Mutation_p.C18S NM_014220 NP_055035 P30408 T4S1_HUMAN transmembrane 4 superfamily member 1 107 Helical; (Probable). integral to plasma membrane 0 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) ACAATGACACAGTAGCCAGAT 0.512 NA 8 56 0 0 0.00308 0 0 FAM194A 131831 broad.mit.edu 37 3 150421307 150421307 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:150421307G>C uc003eyg.2 - 1 436 c.379C>G c.(379-381)CCC>GCC p.P127A FAM194A_uc003eyh.2_Intron NM_152394 NP_689607 Q7L0X2 F194A_HUMAN hypothetical protein LOC131831 127 skin(2)|ovary(1) 3 GTGCTGGAGGGTGGGCTTGCG 0.667 NA 7 55 0 0 0.001984 0 0 IGSF10 285313 broad.mit.edu 37 3 151176498 151176499 + Splice_Site DNP CC CC AT TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:151176498_151176499CC>AT uc011bod.1 - 1 1 c.1_splice c.e1-1 p.M1_splice NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TTACCTTCATCCTGAAAAAACA 0.535 NA 9 37 0 0 0.004672 0 0 SKIL 6498 broad.mit.edu 37 3 170078605 170078605 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:170078605A>C uc003fgu.2 + 2 1198 c.486A>C c.(484-486)GAA>GAC p.E162D SKIL_uc011bps.1_Missense_Mutation_p.E142D|SKIL_uc003fgv.2_Missense_Mutation_p.E162D|SKIL_uc003fgw.2_Missense_Mutation_p.E162D NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 162 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTGGAGGAGAAAAGAGACTCT 0.408 NA 3 134 0 0 0.000248 0 0 TNIK 23043 broad.mit.edu 37 3 170858245 170858245 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:170858245C>A uc003fhh.2 - 13 1620 c.1275G>T c.(1273-1275)CGG>CGT p.R425R TNIK_uc003fhi.2_Silent_p.R425R|TNIK_uc003fhj.2_Silent_p.R425R|TNIK_uc003fhk.2_Silent_p.R425R|TNIK_uc003fhl.2_Silent_p.R425R|TNIK_uc003fhm.2_Silent_p.R425R|TNIK_uc003fhn.2_Silent_p.R425R|TNIK_uc003fho.2_Silent_p.R425R NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 425 Mediates interaction with NEDD4. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CCTCATAGTGCCGGCGCTGCT 0.652 NA 40 181 5.44703e-19 1.14887e-18 0.002222 1 0 DVL3 1857 broad.mit.edu 37 3 183885372 183885372 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr3:183885372A>T uc003fms.2 + 12 1343 c.1203A>T c.(1201-1203)CTA>CTT p.L401L DVL3_uc011bqw.1_Silent_p.L384L|DVL3_uc003fmt.2_Silent_p.L72L|DVL3_uc003fmu.2_Silent_p.L233L NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 401 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CCCCAGGCCTAGACGACTTCC 0.328 NA 7 32 0 0 0.00308 0 0 PDE6B 5158 broad.mit.edu 37 4 647771 647771 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:647771C>A uc003gap.2 + 4 895 c.842C>A c.(841-843)ACC>AAC p.T281N PDE6B_uc003gao.3_Missense_Mutation_p.T281N|PDE6B_uc011buy.1_Missense_Mutation_p.T2N|PDE6B_uc010ibg.2_Missense_Mutation_p.T2N|uc003gaq.1_Intron NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 281 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 CTGGACATGACCAAGGAGAAG 0.652 GBM(71;463 1194 9848 25922 46834) NA 8 61 1.06961e-07 1.61445e-07 0.00308 1 0 KIAA1530 57654 broad.mit.edu 37 4 1343559 1343559 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:1343559G>T uc003gde.3 + 3 793 c.346G>T c.(346-348)GCC>TCC p.A116S NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 116 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) GACCACCCGGGCCGTGGAAGG 0.632 NA 9 46 9.70103e-10 1.58297e-09 0.008291 1 0 HAUS3 79441 broad.mit.edu 37 4 2238091 2238091 + Missense_Mutation SNP T T C rs150101454 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:2238091T>C uc003ges.1 - 4 1672 c.1442A>G c.(1441-1443)AAT>AGT p.N481S POLN_uc011bvi.1_Intron|HAUS3_uc011bvj.1_Intron|HAUS3_uc003get.1_Missense_Mutation_p.N481S NM_024511 NP_078787 Q68CZ6 HAUS3_HUMAN HAUS augmin-like complex, subunit 3 481 Potential. cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle large_intestine(2)|breast(2) 4 TAAAGAAATATTCTGTTTCAA 0.368 NA 22 66 0 0 0.00333 0 0 FAM193A 8603 broad.mit.edu 37 4 2661632 2661632 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:2661632A>T uc010icl.2 + 8 1074 c.723A>T c.(721-723)CCA>CCT p.P241P FAM193A_uc010ick.2_Silent_p.P441P|FAM193A_uc003gfd.2_Silent_p.P241P|FAM193A_uc011bvm.1_Silent_p.P265P|FAM193A_uc011bvn.1_Silent_p.P241P|FAM193A_uc011bvo.1_RNA|FAM193A_uc010icm.2_RNA|FAM193A_uc003gfe.2_Silent_p.P95P NM_003704 NP_003695 P78312 F193A_HUMAN hypothetical protein LOC8603 241 ovary(3) 3 ACCAGCTCCCACTTCAAGTGG 0.557 NA 21 87 0 0 0.008871 0 0 LRRC66 339977 broad.mit.edu 37 4 52860731 52860731 + Silent SNP C C A rs137931708 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:52860731C>A uc003gzi.2 - 4 2470 c.2457G>T c.(2455-2457)CCG>CCT p.P819P NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 819 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGAACATGCCCGGAAACTCAT 0.468 NA 13 71 1.61879e-10 2.74343e-10 0.001368 1 0 YTHDC1 91746 broad.mit.edu 37 4 69195782 69195782 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:69195782C>A uc003hdx.2 - 9 1640 c.1287G>T c.(1285-1287)GTG>GTT p.V429V YTHDC1_uc003hdy.2_Silent_p.V411V NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN splicing factor YT521-B isoform 1 429 YTH. upper_aerodigestive_tract(1)|ovary(1) 2 CTGCTGGAAGCACCCAGTGTA 0.353 NA 19 97 1.56452e-12 2.78843e-12 0.007413 1 0 FAT4 79633 broad.mit.edu 37 4 126370833 126370833 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:126370833G>C uc003ifj.3 + 9 8662 c.8662G>C c.(8662-8664)GGC>CGC p.G2888R FAT4_uc011cgp.1_Missense_Mutation_p.G1186R|FAT4_uc003ifi.1_Missense_Mutation_p.G366R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2888 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 TACTGAGATTGGCTCCAAAGT 0.353 NA 17 124 0 0 0.006122 0 0 PCDH18 54510 broad.mit.edu 37 4 138453002 138453002 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:138453002C>A uc003ihe.3 - 1 628 c.241G>T c.(241-243)GAG>TAG p.E81* PCDH18_uc003ihf.3_Nonsense_Mutation_p.E74*|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Intron|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 81 Extracellular (Potential).|Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) CCATTATCCTCGTTTACTACA 0.428 NA 25 153 4.26978e-12 7.52665e-12 0.00333 1 0 FGB 2244 broad.mit.edu 37 4 155490895 155490895 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:155490895C>A uc003ioa.3 + 7 1227 c.1188C>A c.(1186-1188)ACC>ACA p.T396T FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Silent_p.T334T|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Silent_p.T177T NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 396 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) AAAACAGGACCATGACCATTC 0.458 NSCLC(106;1133 1613 21870 46110 52656) NA 25 91 4.7796e-09 7.5197e-09 0.004656 1 0 LRAT 9227 broad.mit.edu 37 4 155670176 155670176 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:155670176G>T uc003iom.1 + 2 908 c.581G>T c.(580-582)AGT>ATT p.S194I LRAT_uc003ion.1_Missense_Mutation_p.S194I NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 194 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) GATCAGAGAAGTGTTCTTGCT 0.383 NA 15 121 3.27435e-08 5.00479e-08 0.00245 1 0 FSTL5 56884 broad.mit.edu 37 4 162380417 162380417 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:162380417G>A uc003iqh.2 - 14 2099 c.1663C>T c.(1663-1665)CAG>TAG p.Q555* FSTL5_uc003iqi.2_Nonsense_Mutation_p.Q554*|FSTL5_uc010iqv.2_Nonsense_Mutation_p.Q545* NM_020116 NP_064501 Q8N475 FSTL5_HUMAN follistatin-like 5 isoform a 555 extracellular region calcium ion binding ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1) 8 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) ACCCAGACCTGATCATGTGAT 0.358 NA 13 70 0 0 0.00245 0 0 KIAA1712 80817 broad.mit.edu 37 4 175237375 175237375 + Silent SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:175237375A>C uc003itr.2 + 10 1434 c.1020A>C c.(1018-1020)ACA>ACC p.T340T KIAA1712_uc010iro.2_Silent_p.T340T|KIAA1712_uc003its.2_RNA NM_001040157 NP_001035247 Q9C0F1 CEP44_HUMAN HBV PreS1-transactivated protein 3 isoform a 340 centrosome|midbody|spindle pole 0 Prostate(90;0.00276)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196) all cancers(43;4.06e-18)|Epithelial(43;1.18e-15)|OV - Ovarian serous cystadenocarcinoma(60;4.65e-09)|GBM - Glioblastoma multiforme(59;0.00098)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0949) GCTATAGTACAGCATCATCAG 0.373 NA 29 150 0 0 0.002096 0 0 ASB5 140458 broad.mit.edu 37 4 177142368 177142368 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:177142368G>A uc003iuq.1 - 5 624 c.608C>T c.(607-609)ACT>ATT p.T203I ASB5_uc003iup.1_Missense_Mutation_p.T150I NM_080874 NP_543150 Q8WWX0 ASB5_HUMAN ankyrin repeat and SOCS box-containing protein 203 ANK 5. intracellular signal transduction skin(2) 2 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393) ATAGAGAGGAGTTCCCAAATG 0.408 NA 20 65 0 0 0.008871 0 0 TRIML2 205860 broad.mit.edu 37 4 189012705 189012705 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr4:189012705C>G uc003izl.2 - 7 1022 c.986G>C c.(985-987)GGG>GCG p.G329A TRIML2_uc003izj.1_Missense_Mutation_p.G157A|TRIML2_uc003izk.1_Missense_Mutation_p.G137A|TRIML2_uc011cle.1_Missense_Mutation_p.G404A NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 329 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TGATATCTGCCCGTGTTCGCA 0.507 NA 38 176 0 0 0.006999 0 0 DNAH5 1767 broad.mit.edu 37 5 13864666 13864666 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:13864666C>A uc003jfd.2 - 28 4478 c.4436G>T c.(4435-4437)TGT>TTT p.C1479F NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1479 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CAGCGGGCAACACTCGCTGAA 0.527 NA Kartagener_syndrome 28 60 1.77063e-15 3.3803e-15 0.005443 1 0 MYO10 4651 broad.mit.edu 37 5 16672820 16672820 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:16672820C>A uc003jft.3 - 37 5755 c.5287G>T c.(5287-5289)GAT>TAT p.D1763Y MYO10_uc011cnb.1_Missense_Mutation_p.D392Y|MYO10_uc011cnc.1_Missense_Mutation_p.D642Y|MYO10_uc011cnd.1_Missense_Mutation_p.D1120Y|MYO10_uc011cne.1_Missense_Mutation_p.D1120Y|MYO10_uc010itx.2_Missense_Mutation_p.D1385Y NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1763 FERM. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GCTAAGACATCAGCTACGACG 0.478 NA 21 63 1.2644e-06 1.78049e-06 0.001523 1 0 MYO10 4651 broad.mit.edu 37 5 16701144 16701144 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:16701144G>C uc003jft.3 - 25 3828 c.3360C>G c.(3358-3360)GAC>GAG p.D1120E MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Missense_Mutation_p.D477E|MYO10_uc011cne.1_Missense_Mutation_p.D477E|MYO10_uc010itx.2_Missense_Mutation_p.D743E NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1120 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 AGCAGCGGTAGTCGGGGGACC 0.627 NA 4 6 0 0 0.000248 0 0 CDH18 1016 broad.mit.edu 37 5 19520859 19520859 + Silent SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:19520859T>A uc003jgc.2 - 9 1796 c.1419A>T c.(1417-1419)ACA>ACT p.T473T CDH18_uc003jgd.2_Silent_p.T473T|CDH18_uc011cnm.1_Silent_p.T473T NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 473 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TAATACCCACTGTGACATGGC 0.388 NA 48 93 0 0 0.00361 0 0 SLC1A3 6507 broad.mit.edu 37 5 36608599 36608599 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:36608599G>A uc003jkj.3 + 2 550 c.74G>A c.(73-75)CGC>CAC p.R25H SLC1A3_uc011cox.1_5'UTR|SLC1A3_uc010iuy.2_Missense_Mutation_p.R25H NM_004172 NP_004163 P43003 EAA1_HUMAN solute carrier family 1 (glial high affinity 25 Cytoplasmic (Potential). D-aspartate import|L-glutamate import|neurotransmitter uptake integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity 0 all_lung(31;0.000245) Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) L-Glutamic Acid(DB00142) GTCCGTAAACGCACACTTTTG 0.463 NA 11 939 0 0 0.001855 0 0 WDR70 55100 broad.mit.edu 37 5 37703125 37703125 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:37703125G>A uc003jkv.2 + 13 1410 c.1352G>A c.(1351-1353)GGC>GAC p.G451D NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 451 WD 6. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGTGGCAGCGGCAAACTTGTT 0.413 NA 8 806 0 0 0.00308 0 0 PARP8 79668 broad.mit.edu 37 5 50124151 50124151 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:50124151C>T uc003jon.3 + 22 2278 c.2096C>T c.(2095-2097)TCA>TTA p.S699L PARP8_uc011cpz.1_Missense_Mutation_p.S591L|PARP8_uc003joo.2_Missense_Mutation_p.S699L|PARP8_uc003jop.2_Missense_Mutation_p.S657L NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 699 PARP catalytic. intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TTTAGTGGCTCACACATTGAA 0.378 NA 10 107 0 0 0.006214 0 0 CCDC112 153733 broad.mit.edu 37 5 114607173 114607173 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:114607173C>A uc003kqy.2 - 7 1333 c.820G>T c.(820-822)GCA>TCA p.A274S CCDC112_uc003kqz.2_Missense_Mutation_p.A357S|CCDC112_uc003kra.2_Missense_Mutation_p.A357S NM_152549 NP_689762 Q8NEF3 CC112_HUMAN coiled-coil domain containing 112 isoform 2 274 Potential. 0 all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06) GCTTCAACTGCCAAtttctgt 0.259 NA 15 87 1.49906e-05 2.01124e-05 0.00245 1 0 FBN2 2201 broad.mit.edu 37 5 127666379 127666379 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:127666379C>G uc003kuu.2 - 33 4670 c.4231G>C c.(4231-4233)GAA>CAA p.E1411Q FBN2_uc003kuv.2_Missense_Mutation_p.E1378Q NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1411 EGF-like 23; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTAGAACATTCGTCCAGATCT 0.428 NA 7 30 0 0 0.001984 0 0 C5orf24 134553 broad.mit.edu 37 5 134190862 134190862 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:134190862G>T uc003kzx.2 + 2 333 c.272G>T c.(271-273)GGC>GTC p.G91V C5orf24_uc003kzy.3_Missense_Mutation_p.G91V|C5orf24_uc003kzz.2_Missense_Mutation_p.G91V NM_152409 NP_689622 Q7Z6I8 CE024_HUMAN hypothetical protein LOC134553 91 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTAAGCGTGGCCGGCCTTCG 0.478 NA 17 80 8.28177e-16 1.60646e-15 0.007413 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553068 140553068 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:140553068G>T uc003lit.2 + 1 826 c.652G>T c.(652-654)GGC>TGC p.G218C NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 218 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTAGACGGCGGCTCTCCTCC 0.537 NA 11 58 2.27111e-07 3.35458e-07 0.001368 1 0 PCDHGA5 56110 broad.mit.edu 37 5 140744069 140744069 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:140744069G>T uc003lju.1 + 1 172 c.172G>T c.(172-174)GAG>TAG p.E58* 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_uc011das.1_Nonsense_Mutation_p.E58* NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 58 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAGCCCCAGGAGCTGGCGGA 0.647 NA 9 99 0.000978159 0.00120216 0.000978 1 0 IL17B 27190 broad.mit.edu 37 5 148753957 148753957 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:148753957G>T uc003lqo.2 - 3 568 c.518C>A c.(517-519)GCT>GAT p.A173D NM_014443 NP_055258 Q9UHF5 IL17B_HUMAN interleukin 17B precursor 173 cell-cell signaling|immune response|inflammatory response extracellular space cytokine activity|signal transducer activity central_nervous_system(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGCCCACAGCGATGGTCTC 0.657 NA 11 36 1.36491e-13 2.54537e-13 0.001855 1 0 ARSI 340075 broad.mit.edu 37 5 149676935 149676935 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:149676935C>A uc003lrv.2 - 2 2141 c.1552G>T c.(1552-1554)GGT>TGT p.G518C NM_001012301 NP_001012301 Q5FYB1 ARSI_HUMAN arylsulfatase family, member I precursor 518 endoplasmic reticulum|extracellular region arylsulfatase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCAAGCACCCCCATTAAAG 0.607 NA 17 120 3.32936e-07 4.87297e-07 0.006122 1 0 C5orf25 375484 broad.mit.edu 37 5 175716950 175716950 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:175716950A>G uc003mds.3 + 4 773 c.366A>G c.(364-366)GTA>GTG p.V122V C5orf25_uc003mdt.3_Intron|C5orf25_uc003mdr.3_Intron|C5orf25_uc011dfk.1_Silent_p.V141V|uc003mdu.1_Silent_p.V33V Q8NDZ2 CE025_HUMAN RecName: Full=Uncharacterized protein C5orf25; 122 0 all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Kidney(146;0.119) ACACCTTTGTAGGTCCCCCAC 0.493 NA 3 106 0 0 0.004672 0 0 ELOVL2 54898 broad.mit.edu 37 6 10995243 10995243 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:10995243G>T uc003mzp.3 - 5 663 c.502C>A c.(502-504)CAA>AAA p.Q168K NM_017770 NP_060240 Q9NXB9 ELOV2_HUMAN elongation of very long chain fatty acids-like 168 fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding 0 Breast(50;0.0418)|Ovarian(93;0.0919) all_hematologic(90;0.117) Epithelial(50;0.176) AACTTACTTTGTCCACAAGGT 0.383 NA 25 151 6.32553e-13 1.15728e-12 0.004656 1 0 MBOAT1 154141 broad.mit.edu 37 6 20152873 20152873 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:20152873A>T uc003ncx.1 - 2 432 c.227T>A c.(226-228)GTC>GAC p.V76D MBOAT1_uc011dji.1_Intron NM_001080480 NP_001073949 Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain 76 Helical; (Potential). phospholipid biosynthetic process integral to membrane acyltransferase activity 0 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) ACAAAAGATGACAAAATAGAT 0.438 NA 5 8 0 0 0.001168 0 0 SLC17A4 10050 broad.mit.edu 37 6 25773866 25773866 + Silent SNP G G C rs146741384 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:25773866G>C uc003nfe.2 + 8 1070 c.951G>C c.(949-951)ACG>ACC p.T317T SLC17A4_uc011djx.1_Intron|SLC17A4_uc003nff.1_Silent_p.T78T|SLC17A4_uc003nfg.2_Silent_p.T254T|SLC17A4_uc010jqa.2_Silent_p.T30T NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 317 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 ACACACCAACGTACATCAGCT 0.388 NA 46 64 0 0 0.00361 0 0 OR2B2 81697 broad.mit.edu 37 6 27879562 27879562 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:27879562C>G uc011dkw.1 - 1 536 c.536G>C c.(535-537)TGT>TCT p.C179S NM_033057 NP_149046 Q9GZK3 OR2B2_HUMAN olfactory receptor, family 2, subfamily B, 179 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AGGGACTTCACAGAAGAAGTG 0.453 NA 25 128 0 0 0.00632 0 0 TNXB 7148 broad.mit.edu 37 6 32035686 32035686 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:32035686C>A uc003nzl.2 - 18 6498 c.6296G>T c.(6295-6297)GGG>GTG p.G2099V NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2171 Fibronectin type-III 14. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGTTAGCTCCCCCAGGAGCGG 0.647 NA 45 87 6.21074e-16 1.21943e-15 0.002852 1 0 IP6K3 117283 broad.mit.edu 37 6 33690860 33690860 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:33690860A>G uc010jvf.2 - 7 1406 c.870T>C c.(868-870)AAT>AAC p.N290N IP6K3_uc003ofb.2_Silent_p.N290N NM_001142883 NP_001136355 Q96PC2 IP6K3_HUMAN inositol hexakisphosphate kinase 3 290 inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation cytoplasm ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity 0 GGTGGCTTCCATTATGTAGGA 0.502 NA 22 54 0 0 0.002299 0 0 BRPF3 27154 broad.mit.edu 37 6 36196766 36196766 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:36196766G>T uc003olv.3 + 12 3591 c.3367G>T c.(3367-3369)GAG>TAG p.E1123* BRPF3_uc010jwb.2_Nonsense_Mutation_p.E853*|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_Intron|BRPF3_uc011dtk.1_Nonsense_Mutation_p.E789*|BRPF3_uc010jwd.2_Nonsense_Mutation_p.E25* NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 1123 PWWP. histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 GAAGCTGGGAGAGCAGAAACA 0.602 NA 27 63 2.79863e-10 4.6773e-10 0.004656 1 0 PI16 221476 broad.mit.edu 37 6 36930861 36930861 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:36930861T>A uc003ona.2 + 5 1071 c.743T>A c.(742-744)GTC>GAC p.V248D PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.V19D NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 248 Extracellular (Potential). extracellular region|integral to membrane peptidase inhibitor activity 0 GTAACAGAGGTCTCAGGCTCC 0.577 NA 22 131 0 0 0.002299 0 0 DNAH8 1769 broad.mit.edu 37 6 38905924 38905924 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:38905924C>T uc003ooe.1 + 76 11687 c.11087C>T c.(11086-11088)ACA>ATA p.T3696I DNAH8_uc003oog.1_Missense_Mutation_p.T145I|uc003oof.1_Intron NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TTCCTCATCACAGAGATGAGC 0.522 NA 37 69 0 0 0.004878 0 0 GLP1R 2740 broad.mit.edu 37 6 39047364 39047364 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:39047364C>A uc003ooj.3 + 11 1128 c.1068C>A c.(1066-1068)CTC>CTA p.L356L GLP1R_uc003ooh.2_RNA|GLP1R_uc003ooi.2_RNA NM_002062 NP_002053 P43220 GLP1R_HUMAN glucagon-like peptide 1 receptor precursor 356 Helical; Name=6; (Potential). activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion integral to membrane|plasma membrane glucagon receptor activity|peptide receptor activity, G-protein coupled lung(3)|breast(1)|pancreas(1) 5 Exenatide(DB01276)|Glucagon recombinant(DB00040) CGCTGACACTCATCCCCCTGC 0.577 NA 9 71 0.000978159 0.00120216 0.000978 1 0 TFAP2D 83741 broad.mit.edu 37 6 50696930 50696931 + Missense_Mutation DNP GC GC CA TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:50696930_50696931GC>CA uc003paf.2 + 5 1300_1301 c.788_789GC>CA c.(787-789)CGC>CCA p.R263P TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 263 DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) AATGGGGGCCGCTGCCTGAGAG 0.416 NA 22 149 0 0 0.004672 0 0 HCRTR2 3062 broad.mit.edu 37 6 55113436 55113436 + Splice_Site SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:55113436G>A uc003pcl.2 + 2 539 c.224_splice c.e2-1 p.V75_splice HCRTR2_uc010jzv.2_Splice_Site|HCRTR2_uc010jzw.1_Splice_Site_p.V10_splice NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) TTTCAAATTAGTTTGTGTGGC 0.393 NA 18 95 0 0 0.007413 0 0 COL9A1 1297 broad.mit.edu 37 6 70970395 70970395 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:70970395C>A uc003pfg.3 - 20 1573 c.1414G>T c.(1414-1416)GGC>TGC p.G472C COL9A1_uc003pfe.3_Missense_Mutation_p.G45C|COL9A1_uc003pff.3_Missense_Mutation_p.G229C NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 472 Triple-helical region (COL2). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 CCGGTGATGCCTCGCAAACCC 0.353 NA 5 22 0.000157383 0.00020057 0.00308 1 0 MDN1 23195 broad.mit.edu 37 6 90428642 90428642 + Nonsense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:90428642A>T uc003pnn.1 - 42 6281 c.6165T>A c.(6163-6165)TGT>TGA p.C2055* NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 2055 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TCATCTGCACACACTTCATGA 0.577 NA 22 74 0 0 0.001882 0 0 GPRC6A 222545 broad.mit.edu 37 6 117130516 117130516 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:117130516C>A uc003pxj.1 - 2 481 c.459G>T c.(457-459)ATG>ATT p.M153I GPRC6A_uc003pxk.1_Missense_Mutation_p.M153I|GPRC6A_uc003pxl.1_Missense_Mutation_p.M153I NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 153 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) TGGAGACAGCCATAGTTATTT 0.413 NA 18 122 6.44725e-10 1.06281e-09 0.002299 1 0 ALDH8A1 64577 broad.mit.edu 37 6 135239767 135239767 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:135239767T>C uc003qew.2 - 7 1303 c.1250A>G c.(1249-1251)TAT>TGT p.Y417C ALDH8A1_uc003qex.2_Missense_Mutation_p.Y363C|ALDH8A1_uc010kgh.2_Missense_Mutation_p.Y195C|ALDH8A1_uc011ecx.1_Missense_Mutation_p.Y367C NM_022568 NP_072090 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8A1 isoform 1 417 retinal metabolic process cytoplasm retinal dehydrogenase activity ovary(2)|pancreas(1)|skin(1) 4 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) CGCCAGCCCATACTTAACGTT 0.552 NA 13 70 0 0 0.001368 0 0 AKAP12 9590 broad.mit.edu 37 6 151673210 151673210 + Silent SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:151673210G>C uc011eep.1 + 4 3924 c.3684G>C c.(3682-3684)GTG>GTC p.V1228V AKAP12_uc003qoe.2_Silent_p.V1228V|AKAP12_uc003qof.2_Silent_p.V1130V|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Silent_p.V1123V NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 1228 G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) CCAGTTTTGTGTTCCAGGAAG 0.473 Melanoma(141;1616 1805 10049 24534 51979) NA 16 59 0 0 0.00499 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687533 151687533 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr6:151687533T>C uc003qoh.2 - 3 803 c.668A>G c.(667-669)GAA>GGA p.E223G NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN zinc finger and BTB domain containing 2 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) GGAAGATGCTTCCAGATTGGT 0.552 NA 16 78 0 0 0.004007 0 0 INMT 11185 broad.mit.edu 37 7 30793517 30793517 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:30793517C>A uc003tbs.1 + 2 341 c.325C>A c.(325-327)CCA>ACA p.P109T FAM188B_uc010kwe.2_5'UTR|INMT_uc010kwc.1_RNA|INMT_uc010kwd.1_Missense_Mutation_p.P108T NM_006774 NP_006765 O95050 INMT_HUMAN indolethylamine N-methyltransferase 109 cytoplasm amine N-methyltransferase activity 0 TGACTGGACCCCAGCGGTGAA 0.572 NA 37 130 1.06647e-15 2.06043e-15 0.003755 1 0 INHBA 3624 broad.mit.edu 37 7 41730102 41730103 + Missense_Mutation DNP CC CC TA TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:41730102_41730103CC>TA uc003thq.2 - 2 661_662 c.426_427GG>TA c.(424-429)AAGGAA>AATAAA p.142_143KE>NK INHBA_uc003thr.2_Missense_Mutation_p.142_143KE>NK NM_002192 NP_002183 P08476 INHBA_HUMAN inhibin beta A precursor 142_143 cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway activin A complex|inhibin A complex cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity lung(5)|ovary(1) 6 TCACTGCCTTCCTTGGAAATCT 0.5 NA TSP Lung(11;0.080) 15 47 0 0 0.004672 0 0 POM121L12 285877 broad.mit.edu 37 7 53103500 53103500 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:53103500C>A uc003tpz.2 + 1 152 c.136C>A c.(136-138)CCC>ACC p.P46T NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 46 0 CACGCCATCTCCCCAGGGTCG 0.677 NA 10 39 1.08611e-07 1.62412e-07 0.000978 1 0 DTX2 113878 broad.mit.edu 37 7 76112318 76112318 + Silent SNP G G T rs146537218 byFrequency TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:76112318G>T uc003uff.3 + 5 1318 c.762G>T c.(760-762)GGG>GGT p.G254G DTX2_uc011kgk.1_Silent_p.G163G|DTX2_uc003ufg.3_Silent_p.G254G|DTX2_uc003ufh.3_Silent_p.G254G|DTX2_uc003ufj.3_Silent_p.G254G NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 254 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CACTCTCCGGGGCCCGGTCTG 0.677 NA 24 230 4.43304e-23 9.77697e-23 0.00632 1 0 PDK4 5166 broad.mit.edu 37 7 95216781 95216781 + Silent SNP T T C rs148379762 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:95216781T>C uc003uoa.2 - 9 1250 c.930A>G c.(928-930)ACA>ACG p.T310T PDK4_uc003unz.2_Silent_p.T98T NM_002612 NP_002603 Q16654 PDK4_HUMAN pyruvate dehydrogenase kinase 4 precursor 310 Histidine kinase. glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity 0 all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0151) CAGTGGAGTATGTATAACTAA 0.393 NA 23 83 0 0 0.00333 0 0 LMTK2 22853 broad.mit.edu 37 7 97822738 97822738 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:97822738C>G uc003upd.1 + 11 3254 c.2961C>G c.(2959-2961)TTC>TTG p.F987L NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 987 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) CAGCACCCTTCCCAGCCTCTG 0.567 NA 12 177 0 0 0.001855 0 0 ORAI2 80228 broad.mit.edu 37 7 102079390 102079390 + Splice_Site SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:102079390G>T uc010lhz.1 + 3 223 c.-12_splice c.e3-1 ORAI2_uc003uzj.2_Splice_Site|ORAI2_uc003uzk.2_Splice_Site|ORAI2_uc011kks.1_Intron NM_001126340 NP_001119812 Q96SN7 ORAI2_HUMAN ORAI calcium release-activated calcium modulator integral to membrane protein binding ovary(1)|kidney(1) 2 CCCACCCTTAGCCTGGCTCCC 0.582 NA 23 106 1.5548e-18 3.23693e-18 0.005443 1 0 FBXL13 222235 broad.mit.edu 37 7 102517943 102517943 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:102517943C>A uc003vaq.2 - 16 2033 c.1606G>T c.(1606-1608)GAT>TAT p.D536Y FBXL13_uc010liq.1_Intron|FBXL13_uc010lir.1_Missense_Mutation_p.D536Y|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.D536Y NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 536 LRR 12. 0 CCAGAGAGATCTATTGATACC 0.294 NA 15 69 1.02788e-11 1.78586e-11 0.00499 1 0 C7orf58 79974 broad.mit.edu 37 7 120782149 120782149 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:120782149C>A uc003vjq.3 + 16 2456 c.2009C>A c.(2008-2010)CCA>CAA p.P670Q C7orf58_uc003vjs.3_Missense_Mutation_p.P670Q|C7orf58_uc003vjt.3_Missense_Mutation_p.P450Q NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 670 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GAAGACCGCCCAAGTCTGCCC 0.433 NA 31 156 4.15321e-07 6.06043e-07 0.001786 1 0 POT1 25913 broad.mit.edu 37 7 124475445 124475445 + Nonsense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:124475445T>A uc003vlm.2 - 15 1994 c.1393A>T c.(1393-1395)AAA>TAA p.K465* POT1_uc011koe.1_RNA|POT1_uc003vlk.2_RNA|POT1_uc003vll.2_RNA|POT1_uc003vlo.2_Nonsense_Mutation_p.K334*|POT1_uc003vln.2_RNA NM_015450 NP_056265 Q9NUX5 POTE1_HUMAN protection of telomeres 1 isoform 1 465 DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase nuclear telomere cap complex|nucleoplasm DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity central_nervous_system(1) 1 TTCGAGAGTTTGCAAATTTCA 0.363 Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642) NA 21 74 0 0 0.002299 0 0 ZNF800 168850 broad.mit.edu 37 7 127014765 127014765 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:127014765C>A uc003vlx.1 - 5 888 c.625G>T c.(625-627)GAA>TAA p.E209* ZNF800_uc003vlw.1_Nonsense_Mutation_p.E112*|ZNF800_uc003vly.1_Nonsense_Mutation_p.E209*|ZNF800_uc010lla.2_Nonsense_Mutation_p.E209* NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 209 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TGAGGTTGTTCATCAGATGTA 0.418 NA 32 109 3.57733e-08 5.43349e-08 0.001786 1 0 HIPK2 28996 broad.mit.edu 37 7 139416353 139416353 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:139416353C>A uc003vvf.3 - 2 655 c.481G>T c.(481-483)GCC>TCC p.A161S HIPK2_uc003vvd.3_Missense_Mutation_p.A161S NM_022740 NP_073577 Q9H2X6 HIPK2_HUMAN homeodomain interacting protein kinase 2 isoform 161 Transcriptional corepression (By similarity). apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction centrosome|nuclear membrane|PML body ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding ovary(3)|central_nervous_system(3)|skin(1) 7 Melanoma(164;0.205) GCGACAGTGGCCCCGCTTGCA 0.557 NA 26 113 5.61819e-17 1.13066e-16 0.005443 1 0 BRAF 673 broad.mit.edu 37 7 140453193 140453193 + Missense_Mutation SNP T T C rs121913370 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:140453193T>C uc003vwc.3 - 15 1803 c.1742A>G c.(1741-1743)AAT>AGT p.N581S NM_004333 NP_004324 P15056 BRAF_HUMAN B-Raf 581 Protein kinase. N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.N581S(7)|p.N581Y(1)|p.N581I(1) KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2) thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1) 18290 Melanoma(164;0.00956) Sorafenib(DB00398) AAGAAATATATCTGAGGTGTA 0.358 Colon(40;35 892 2973 5743 27438) 61 Mis|T|O AKAP9|KIAA1549 melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma Cardio-facio-cutaneous syndrome Cardiofaciocutaneous_syndrome 8 76 0 0 0.006214 0 0 TAS2R60 338398 broad.mit.edu 37 7 143140666 143140666 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:143140666G>T uc011ktg.1 + 1 121 c.121G>T c.(121-123)GCT>TCT p.A41S uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 41 Helical; Name=2; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) CATCACTGCTGCTCTGGGCGT 0.493 NA 42 124 1.62957e-23 3.61047e-23 0.00874 1 0 KCNH2 3757 broad.mit.edu 37 7 150644045 150644045 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:150644045G>T uc003wic.2 - 14 3263 c.3250C>A c.(3250-3252)CCG>ACG p.P1084T KCNH2_uc003wib.2_Missense_Mutation_p.P744T|KCNH2_uc011kux.1_Missense_Mutation_p.P988T NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 1084 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CCAGGCCCCGGGGTGGTCACA 0.662 GBM(137;110 1844 13671 20123 45161) NA 18 97 8.34094e-07 1.17797e-06 0.008871 1 0 PTPRN2 5799 broad.mit.edu 37 7 157959945 157959945 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr7:157959945C>A uc003wno.2 - 6 709 c.588G>T c.(586-588)GTG>GTT p.V196V PTPRN2_uc003wnp.2_Silent_p.V179V|PTPRN2_uc003wnq.2_Silent_p.V196V|PTPRN2_uc003wnr.2_Silent_p.V158V|PTPRN2_uc011kwa.1_Silent_p.V219V NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 196 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ACGTGTGGGCCACATAGGTCA 0.627 NA 10 78 0.000442599 0.000556707 0.006214 1 0 CSMD1 64478 broad.mit.edu 37 8 3076867 3076867 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:3076867C>G uc011kwk.1 - 29 4975 c.4585G>C c.(4585-4587)GAA>CAA p.E1529Q CSMD1_uc011kwj.1_Missense_Mutation_p.E921Q|CSMD1_uc003wqe.2_Missense_Mutation_p.E685Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1529 Extracellular (Potential).|CUB 9. 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) TCTATTCTTTCTGGGGCCTGA 0.498 NA 2 3 0 0 0.004672 0 0 BLK 640 broad.mit.edu 37 8 11414294 11414294 + Silent SNP C C T rs139994406 by1000genomes TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:11414294C>T uc003wty.2 + 9 1481 c.900C>T c.(898-900)TAC>TAT p.Y300Y BLK_uc003wtz.2_Silent_p.Y229Y NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 300 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TCCGACTCTACGCAGTGGTCA 0.617 NA 8 35 0 0 0.00308 0 0 NEFL 4747 broad.mit.edu 37 8 24811218 24811218 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:24811218G>A uc003xee.2 - 3 1363 c.1261C>T c.(1261-1263)CGA>TGA p.R421* NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 421 Tail.|Tail, subdomain A. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) TAGGCAGATCGGCCAAAGACC 0.572 NA 13 78 0 0 0.00245 0 0 ADAM9 8754 broad.mit.edu 37 8 38948862 38948862 + Silent SNP A A G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:38948862A>G uc003xmr.2 + 20 2373 c.2295A>G c.(2293-2295)GAA>GAG p.E765E ADAM9_uc011lcf.1_RNA|ADAM9_uc011lcg.1_RNA|ADAM9_uc010lwr.2_RNA|ADAM9_uc003xms.2_RNA NM_003816 NP_003807 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 isoform 1 765 Cytoplasmic (Potential). Missing (in Ref. 2; no nucleotide entry). activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) CTCCCAGAGAAGTTGTAAGTA 0.348 NA 19 153 0 0 0.006122 0 0 HOOK3 84376 broad.mit.edu 37 8 42823213 42823213 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:42823213G>T uc003xpr.2 + 11 1220 c.978G>T c.(976-978)AAG>AAT p.K326N HOOK3_uc010lxq.1_Missense_Mutation_p.K326N NM_032410 NP_115786 Q86VS8 HOOK3_HUMAN golgi-associated microtubule-binding protein 326 Potential. cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding ovary(1)|breast(1) 2 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) ATAAAAAGAAGCTAGAAGACC 0.338 NA T RET papillary thyroid 28 57 2.65835e-16 5.26222e-16 0.007291 1 0 OPRK1 4986 broad.mit.edu 37 8 54142028 54142028 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:54142028G>T uc003xrh.1 - 3 1347 c.972C>A c.(970-972)AGC>AGA p.S324R OPRK1_uc003xri.1_Missense_Mutation_p.S324R|OPRK1_uc010lyc.1_Missense_Mutation_p.S235R NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 324 Helical; Name=7; (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGGGATTCAGGCTACTGTTGG 0.512 NA 8 65 0.00307968 0.00370021 0.00308 1 0 EYA1 2138 broad.mit.edu 37 8 72246386 72246386 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:72246386T>A uc003xys.3 - 3 435 c.148A>T c.(148-150)AGT>TGT p.S50C EYA1_uc003xyr.3_Missense_Mutation_p.S50C|EYA1_uc003xyt.3_Missense_Mutation_p.S17C|EYA1_uc010lzf.2_5'UTR|EYA1_uc003xyu.2_Missense_Mutation_p.S50C|EYA1_uc011lfe.1_Missense_Mutation_p.S50C|EYA1_uc003xyv.2_5'UTR NM_172058 NP_742055 Q99502 EYA1_HUMAN eyes absent 1 isoform b 50 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 5 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCTGTTTCACTGCTGCTCATT 0.328 NA 32 62 0 0 0.002836 0 0 CSMD3 114788 broad.mit.edu 37 8 114186001 114186001 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:114186001G>T uc003ynu.2 - 4 818 c.659C>A c.(658-660)GCC>GAC p.A220D CSMD3_uc003ynt.2_Missense_Mutation_p.A180D|CSMD3_uc011lhx.1_Missense_Mutation_p.A220D|CSMD3_uc010mcx.1_Missense_Mutation_p.A220D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 220 Extracellular (Potential).|Sushi 1. 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 AACTGAATTGGCTATGCAGGT 0.428 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 99 1.10513e-12 1.99917e-12 0.002299 1 0 COL14A1 7373 broad.mit.edu 37 8 121381596 121381596 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr8:121381596G>T uc003yox.2 + 47 5448 c.5183G>T c.(5182-5184)AGC>ATC p.S1728I COL14A1_uc003yoz.2_Missense_Mutation_p.S693I NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 1728 Triple-helical region 2 (COL1). cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CGGCCTGGCAGCCCTGGGCCC 0.582 NA 16 95 2.23348e-06 3.09992e-06 0.004007 1 0 C9orf68 55064 broad.mit.edu 37 9 4625390 4625390 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:4625390C>A uc011llz.1 - 5 670 c.432G>T c.(430-432)CAG>CAT p.Q144H C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Missense_Mutation_p.Q202H|C9orf68_uc011lly.1_Missense_Mutation_p.Q79H NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN hypothetical protein LOC55064 144 0 Breast(48;0.0456) GBM - Glioblastoma multiforme(50;0.0222) CAAGGTTCAACTGAGCTGGCT 0.428 NA 20 68 1.96292e-10 3.30345e-10 0.001523 1 0 C9orf68 55064 broad.mit.edu 37 9 4625413 4625413 + Missense_Mutation SNP A A C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:4625413A>C uc011llz.1 - 5 647 c.409T>G c.(409-411)TTC>GTC p.F137V C9orf68_uc003zik.2_RNA|C9orf68_uc003zil.2_RNA|C9orf68_uc010mhj.2_Missense_Mutation_p.F195V|C9orf68_uc011lly.1_Missense_Mutation_p.F72V NM_001039395 NP_001034484 B4DIY4 B4DIY4_HUMAN hypothetical protein LOC55064 137 0 Breast(48;0.0456) GBM - Glioblastoma multiforme(50;0.0222) TCCTGGAAGAAATGCCTGGTA 0.433 NA 19 71 0 0 0.007413 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920027 5920027 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:5920027G>C uc003zjq.3 - 8 6185 c.5969C>G c.(5968-5970)GCT>GGT p.A1990G KIAA2026_uc010mht.2_Missense_Mutation_p.A1165G NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1990 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) AGGAACCTTAGCAGTTGTGTT 0.398 NA 35 193 0 0 0.004878 0 0 KIAA2026 158358 broad.mit.edu 37 9 5920648 5920648 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:5920648C>A uc003zjq.3 - 8 5564 c.5348G>T c.(5347-5349)CGG>CTG p.R1783L KIAA2026_uc010mht.2_Missense_Mutation_p.R958L NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 1783 ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) GAGTGAAGTCCGAGATTGTCT 0.418 NA 116 487 3.35115e-56 7.81934e-56 0.00361 1 0 KIAA1797 54914 broad.mit.edu 37 9 20946798 20946798 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:20946798G>T uc003zog.1 + 32 4017 c.3654G>T c.(3652-3654)CTG>CTT p.L1218L KIAA1797_uc003zoh.1_Silent_p.L654L NM_017794 NP_060264 Q5VW36 K1797_HUMAN hypothetical protein LOC54914 1218 integral to membrane binding ovary(8)|breast(1)|kidney(1) 10 GBM - Glioblastoma multiforme(3;2.1e-125)|Lung(42;2.76e-14)|LUSC - Lung squamous cell carcinoma(42;1.99e-11) AGCTTCGACTGTTAGTGGAGA 0.453 NA 21 90 8.10497e-08 1.22718e-07 0.001523 1 0 SHOX 6473 broad.mit.edu 37 X 591669 591669 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:591669G>T uc004cph.1 + 2 728 c.37G>T c.(37-39)GAC>TAC p.D13Y SHOX_uc004cpi.2_Missense_Mutation_p.D13Y NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 13 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CAAGTCTTTTGACCAGAAAAG 0.637 Ovarian(95;18 1419 12424 14056 28266) NA 32 262 1.61788e-16 3.21578e-16 0.002445 1 0 ARSF 416 broad.mit.edu 37 X 3002590 3002590 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:3002590C>A uc004cre.1 + 6 934 c.713C>A c.(712-714)ACG>AAG p.T238K ARSF_uc004crf.1_Missense_Mutation_p.T238K NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 238 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCCAGCCACACGTCCCCTTTA 0.547 NA 14 129 3.41278e-10 5.68405e-10 0.00499 1 0 NLGN4X 57502 broad.mit.edu 37 X 5821398 5821398 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:5821398C>A uc010ndh.2 - 5 1822 c.1321G>T c.(1321-1323)GTG>TTG p.V441L NLGN4X_uc004crp.2_Missense_Mutation_p.V461L|NLGN4X_uc004crq.2_Missense_Mutation_p.V441L|NLGN4X_uc010ndi.2_Missense_Mutation_p.V478L|NLGN4X_uc004crr.2_Missense_Mutation_p.V441L|NLGN4X_uc010ndj.2_Missense_Mutation_p.V441L NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 441 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 AAGAGAGCCACCAGGGTTTTC 0.597 NA 16 57 6.49762e-13 1.17983e-12 0.006122 1 0 ATXN3L 92552 broad.mit.edu 37 X 13337046 13337046 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:13337046G>T uc010ned.2 - 1 1473 c.1008C>A c.(1006-1008)GCC>GCA p.A336A NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 336 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 TGTCGACAGCGGCCTGTACTG 0.393 NA 63 210 2.23399e-28 5.04215e-28 0.00361 1 0 EGFL6 25975 broad.mit.edu 37 X 13624574 13624574 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:13624574C>A uc004cvi.2 + 6 837 c.597C>A c.(595-597)TAC>TAA p.Y199* EGFL6_uc004cvj.2_Nonsense_Mutation_p.Y199*|EGFL6_uc011mik.1_Nonsense_Mutation_p.Y100* NM_015507 NP_056322 Q8IUX8 EGFL6_HUMAN epidermal growth factor-like protein 6 199 EGF-like 4; calcium-binding (Potential). cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding breast(2) 2 GAAGCTACTACTGCAAATGTC 0.413 NA 41 134 2.87052e-16 5.65902e-16 0.005524 1 0 FANCB 2187 broad.mit.edu 37 X 14882911 14882911 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:14882911T>A uc004cwg.1 - 3 990 c.722A>T c.(721-723)CAT>CTT p.H241L FANCB_uc004cwh.1_Missense_Mutation_p.H241L NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 241 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) TGCACAAATATGTACATAAGT 0.338 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 20 94 0 0 0.007413 0 0 MOSPD2 158747 broad.mit.edu 37 X 14915215 14915215 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:14915215G>T uc004cwi.2 + 5 420 c.332G>T c.(331-333)AGG>ATG p.R111M MOSPD2_uc004cwj.2_Missense_Mutation_p.R48M NM_152581 NP_689794 Q8NHP6 MSPD2_HUMAN motile sperm domain containing 2 111 CRAL-TRIO. integral to membrane structural molecule activity lung(1) 1 Hepatocellular(33;0.183) GTCTGGATCAGGGTGAAGTAT 0.328 NA 15 97 1.05317e-09 1.70698e-09 0.00245 1 0 ASB11 140456 broad.mit.edu 37 X 15306059 15306059 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:15306059G>T uc004cwp.1 - 6 791 c.791C>A c.(790-792)GCG>GAG p.A264E ASB11_uc004cwo.1_Missense_Mutation_p.A243E|ASB11_uc010nes.1_RNA|ASB11_uc010net.1_Missense_Mutation_p.A247E NM_080873 NP_543149 Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box-containing protein 264 intracellular signal transduction breast(2)|skin(1) 3 Hepatocellular(33;0.183) CAGATCAAGCGCACTTTTGCC 0.542 NA 18 68 7.07596e-05 9.18733e-05 0.006122 1 0 GPR64 10149 broad.mit.edu 37 X 19027777 19027777 + Silent SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:19027777A>T uc004cyx.2 - 18 1553 c.1389T>A c.(1387-1389)ACT>ACA p.T463T GPR64_uc004cyy.2_Silent_p.T460T|GPR64_uc004cyz.2_Silent_p.T449T|GPR64_uc004czb.2_Silent_p.T463T|GPR64_uc004czc.2_Silent_p.T447T|GPR64_uc004czd.2_Silent_p.T439T|GPR64_uc004cze.2_Silent_p.T433T|GPR64_uc004czf.2_Silent_p.T425T|GPR64_uc004cza.2_Silent_p.T441T|GPR64_uc004cyw.2_Silent_p.T447T|GPR64_uc010nfj.2_Silent_p.T433T NM_001079858 NP_001073327 Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 isoform 1 463 Extracellular (Potential). neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity 0 Hepatocellular(33;0.183) CCACAAAGGTAGTTGTGTTGA 0.423 NA 16 104 0 0 0.006122 0 0 MAGEB18 286514 broad.mit.edu 37 X 26157298 26157298 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:26157298G>T uc004dbq.1 + 2 383 c.196G>T c.(196-198)GGA>TGA p.G66* NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 66 protein binding central_nervous_system(1) 1 AGCGCTTCAGGGAGCCCCATC 0.532 NA 12 46 1.61879e-10 2.74343e-10 0.001368 1 0 IL1RAPL1 11141 broad.mit.edu 37 X 29938182 29938182 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:29938182G>T uc004dby.2 + 8 1536 c.1028G>T c.(1027-1029)CGA>CTA p.R343L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 343 Extracellular (Potential).|Ig-like C2-type 3. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 AATGGACGTCGACACGCCAGC 0.438 NA 32 95 1.08312e-15 2.08425e-15 0.001786 1 0 MAGEB2 4113 broad.mit.edu 37 X 30237292 30237292 + Missense_Mutation SNP C C A rs45513291 TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:30237292C>A uc004dbz.2 + 2 698 c.595C>A c.(595-597)CCC>ACC p.P199T NM_002364 NP_002355 O15479 MAGB2_HUMAN melanoma antigen family B, 2 199 MAGE. protein binding ovary(1) 1 CTGGGACTTTCCCAGGAGAAA 0.488 NA 10 33 2.17888e-05 2.89917e-05 0.006214 1 0 FAM47A 158724 broad.mit.edu 37 X 34148514 34148514 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:34148514G>A uc004ddg.2 - 1 1915 c.1882C>T c.(1882-1884)CTG>TTG p.L628L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 628 ovary(4)|central_nervous_system(1) 5 AAGTCAAACAGATTCCTGATG 0.443 NA 21 85 0 0 0.008871 0 0 CYBB 1536 broad.mit.edu 37 X 37655268 37655268 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:37655268C>A uc004ddr.2 + 6 609 c.548C>A c.(547-549)ACG>AAG p.T183K CYBB_uc011mke.1_RNA|CYBB_uc011mkf.1_Missense_Mutation_p.T151K|CYBB_uc011mkg.1_Intron NM_000397 NP_000388 P04839 CY24B_HUMAN cytochrome b-245 beta polypeptide 183 Helical; (Potential).|Ferric oxidoreductase. electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 GTTGTCATCACGCTGTGCCTC 0.398 NA 13 71 9.31168e-06 1.27049e-05 0.001855 1 0 BCOR 54880 broad.mit.edu 37 X 39933626 39933626 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:39933626G>T uc004den.3 - 4 1265 c.973C>A c.(973-975)CTG>ATG p.L325M BCOR_uc004dep.3_Missense_Mutation_p.L325M|BCOR_uc004deo.3_Missense_Mutation_p.L325M|BCOR_uc004dem.3_Missense_Mutation_p.L325M|BCOR_uc004deq.3_Missense_Mutation_p.L325M NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 325 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TCCCCCGGCAGGCCACTGGTG 0.647 NA 5 37 0.00116845 0.00142876 0.001168 1 0 SLC35A2 7355 broad.mit.edu 37 X 48762073 48762073 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:48762073C>A uc004dlo.1 - 4 1117 c.1113G>T c.(1111-1113)CCG>CCT p.P371P SLC35A2_uc011mml.1_Silent_p.P384P|SLC35A2_uc004dlp.1_Silent_p.P371P|SLC35A2_uc011mmm.1_Silent_p.P399P|SLC35A2_uc011mmn.1_Silent_p.P310P|SLC35A2_uc004dlr.1_3'UTR|SLC35A2_uc004dlq.2_Missense_Mutation_p.A175S NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 371 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 AAGACAGCTGCGGTGGTGGTG 0.652 NA 10 35 3.07112e-06 4.25029e-06 0.000978 1 0 TSR2 90121 broad.mit.edu 37 X 54466893 54466893 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:54466893G>T uc004dte.2 + 1 41 c.39G>T c.(37-39)CGG>CGT p.R13R TSR2_uc004dtf.2_5'UTR NM_058163 NP_477511 Q969E8 TSR2_HUMAN TSR2, 20S rRNA accumulation, homolog 13 rRNA processing protein binding 0 CTCTTTTCCGGGCTGGGGTCT 0.697 NA 4 16 0.00024832 0.000313975 0.000248 1 0 FGD1 2245 broad.mit.edu 37 X 54497808 54497808 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:54497808C>A uc004dtg.2 - 2 1154 c.420G>T c.(418-420)CCG>CCT p.P140P FGD1_uc011moi.1_5'Flank NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 140 Pro-rich. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 GGGTTTCAGTCGGGGGACCTG 0.607 NA 32 79 8.88839e-20 1.90804e-19 0.002096 1 0 USP51 158880 broad.mit.edu 37 X 55513306 55513306 + Silent SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:55513306G>A uc004dun.1 - 2 2146 c.2067C>T c.(2065-2067)ACC>ACT p.T689T USP51_uc011moo.1_Silent_p.T393T NM_201286 NP_958443 Q70EK9 UBP51_HUMAN ubiquitin specific protease 51 689 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 AGTCCTCAATGGTAGCCTTGG 0.433 NA 16 81 0 0 0.003163 0 0 UBQLN2 29978 broad.mit.edu 37 X 56591074 56591074 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:56591074C>G uc004dus.2 + 1 1003 c.768C>G c.(766-768)AGC>AGG p.S256R UBQLN2_uc011moq.1_Missense_Mutation_p.S256R NM_013444 NP_038472 Q9UHD9 UBQL2_HUMAN ubiquilin 2 256 cytoplasm|nucleus|plasma membrane binding ovary(1)|skin(1) 2 TGGCTCTTAGCAATCTAGAAA 0.483 Esophageal Squamous(104;218 1492 6022 10838 28884) NA 14 71 0 0 0.00245 0 0 FAM123B 139285 broad.mit.edu 37 X 63410828 63410828 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:63410828C>A uc004dvo.2 - 2 2612 c.2339G>T c.(2338-2340)GGG>GTG p.G780V NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 780 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 AAAGAGGTTCCCATTGCTGGT 0.512 NA 11 35 2.80697e-09 4.45977e-09 0.000978 1 0 TEX11 56159 broad.mit.edu 37 X 69902602 69902602 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:69902602G>T uc004dyl.2 - 15 1285 c.1123C>A c.(1123-1125)CTG>ATG p.L375M TEX11_uc004dyk.2_Missense_Mutation_p.L50M|TEX11_uc004dym.2_Missense_Mutation_p.L360M NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN testis expressed sequence 11 isoform 1 375 protein binding ovary(3)|breast(1)|skin(1) 5 Renal(35;0.156) TGGAGTATCAGAACTTTTCCA 0.358 NA 14 45 9.31168e-06 1.27049e-05 0.001855 1 0 ACRC 93953 broad.mit.edu 37 X 70824043 70824043 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:70824043G>T uc004eae.2 + 8 1417 c.916G>T c.(916-918)GAC>TAC p.D306Y BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 306 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) GGAAGCTCCCGACGACAAGAG 0.512 NA 46 264 2.77807e-22 6.09913e-22 0.003214 1 0 FAM46D 169966 broad.mit.edu 37 X 79699123 79699123 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:79699123C>A uc004edl.1 + 5 1419 c.1085C>A c.(1084-1086)CCT>CAT p.P362H FAM46D_uc004edm.1_Missense_Mutation_p.P362H NM_152630 NP_689843 Q8NEK8 FA46D_HUMAN hypothetical protein LOC169966 362 lung(2) 2 GCAAGGTACCCTATTTATGTA 0.428 NA 8 49 0.00448238 0.00534565 0.004482 1 0 PABPC5 140886 broad.mit.edu 37 X 90690795 90690795 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:90690795G>C uc004efg.2 + 2 659 c.219G>C c.(217-219)GAG>GAC p.E73D PABPC5_uc004eff.1_Intron NM_080832 NP_543022 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 73 RRM 1. cytoplasm nucleotide binding|RNA binding ovary(1)|lung(1)|pancreas(1) 3 CGGATGCAGAGTGGGCCTTGA 0.532 NA 7 37 0 0 0.001984 0 0 XKRX 402415 broad.mit.edu 37 X 100178004 100178004 + Nonsense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:100178004C>A uc004egn.2 - 2 987 c.382G>T c.(382-384)GAG>TAG p.E128* XKRX_uc011mre.1_Intron NM_212559 NP_997724 Q6PP77 XKR2_HUMAN XK, Kell blood group complex subunit-related, 128 integral to membrane|plasma membrane breast(1) 1 TCCTCCTGCTCCTCTTTCTTC 0.512 NA 32 140 2.46105e-21 5.33044e-21 0.002096 1 0 IRS4 8471 broad.mit.edu 37 X 107977841 107977841 + Missense_Mutation SNP A A T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:107977841A>T uc004eoc.2 - 1 1767 c.1734T>A c.(1732-1734)GAT>GAA p.D578E NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 578 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AGCCATGGCCATCTCCAGGTC 0.612 NA 61 277 0 0 0.00361 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708604 108708604 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:108708604G>C uc004eod.3 - 3 1075 c.799C>G c.(799-801)CAT>GAT p.H267D GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 267 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TTCAGATCATGAGCACATTCC 0.443 NA 32 177 0 0 0.003271 0 0 TRPC5 7224 broad.mit.edu 37 X 111195529 111195529 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:111195529C>A uc004epl.1 - 2 1039 c.120G>T c.(118-120)GTG>GTT p.V40V TRPC5_uc004epm.1_Silent_p.V40V NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 40 Cytoplasmic (Potential).|ANK 1. axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 CCCCCTTCTCCACAGCATTGA 0.542 NA 19 77 2.4624e-09 3.92521e-09 0.008871 1 0 LONRF3 79836 broad.mit.edu 37 X 118108865 118108865 + Missense_Mutation SNP T T C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:118108865T>C uc004eqw.2 + 1 153 c.122T>C c.(121-123)GTG>GCG p.V41A LONRF3_uc004eqx.2_Missense_Mutation_p.V41A|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_5'Flank NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 41 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CACCCAAAGGTGGCTGCAGAG 0.662 NA 3 10 0 0 0.004672 0 0 KIAA1210 57481 broad.mit.edu 37 X 118220782 118220782 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:118220782C>T uc004era.3 - 11 4411 c.4411G>A c.(4411-4413)GAT>AAT p.D1471N NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1471 ovary(4)|skin(1) 5 TTTTCAACATCATCCTGATTG 0.438 NA 4 79 0 0 0.000248 0 0 CXorf56 63932 broad.mit.edu 37 X 118675326 118675326 + Missense_Mutation SNP G G C TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:118675326G>C uc004erk.1 - 6 617 c.571C>G c.(571-573)CGC>GGC p.R191G uc004eri.2_5'Flank|CXorf56_uc004erj.1_Missense_Mutation_p.R142G|CXorf56_uc011mtu.1_Missense_Mutation_p.R177G NM_022101 NP_071384 Q9H5V9 CX056_HUMAN hypothetical protein LOC63932 191 Potential. protein binding 0 ATGCCTTTGCGCTCCAGCTGT 0.493 NA 57 216 0 0 0.00361 0 0 ZBTB33 10009 broad.mit.edu 37 X 119387450 119387450 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:119387450C>A uc004esn.1 + 2 408 c.180C>A c.(178-180)CTC>CTA p.L60L ZBTB33_uc010nqm.1_Silent_p.L60L NM_006777 NP_006768 Q86T24 KAISO_HUMAN kaiso 60 BTB.|Self-association (By similarity).|Interaction with NCOR1. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|nucleolus|plasma membrane DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 TCCATCAGCTCTTCTCTGTTG 0.393 NA 53 303 4.88506e-25 1.09235e-24 0.00361 1 0 ODZ1 10178 broad.mit.edu 37 X 123839006 123839006 + Missense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:123839006G>A uc004euj.2 - 5 936 c.872C>T c.(871-873)CCT>CTT p.P291L ODZ1_uc011muj.1_Missense_Mutation_p.P291L|ODZ1_uc010nqy.2_Missense_Mutation_p.P291L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 291 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 AGGCCTGGGAGGGGGCGAGTA 0.527 NA 38 218 0 0 0.007835 0 0 SMARCA1 6594 broad.mit.edu 37 X 128657272 128657272 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:128657272C>A uc004eun.3 - 1 189 c.76G>T c.(76-78)GAC>TAC p.D26Y SMARCA1_uc004eup.3_Missense_Mutation_p.D26Y|SMARCA1_uc011muk.1_Missense_Mutation_p.D26Y|SMARCA1_uc011mul.1_Missense_Mutation_p.D26Y NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 26 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 GGCTGCTCGTCCTCTATGACC 0.697 NA 14 61 2.31682e-05 3.07425e-05 0.003163 1 0 AIFM1 9131 broad.mit.edu 37 X 129271088 129271088 + Missense_Mutation SNP T T A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:129271088T>A uc004evg.2 - 10 1218 c.1040A>T c.(1039-1041)TAC>TTC p.Y347F AIFM1_uc011mur.1_5'UTR|AIFM1_uc011mus.1_3'UTR|AIFM1_uc004evh.2_Missense_Mutation_p.Y343F|AIFM1_uc004evi.2_Missense_Mutation_p.Y60F|AIFM1_uc004evk.2_RNA NM_004208 NP_004199 O95831 AIFM1_HUMAN programmed cell death 8 isoform 1 347 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding ovary(4)|central_nervous_system(1) 5 GTTGCTGAGGTATTCGGGGAG 0.468 NA 32 150 0 0 0.004878 0 0 FRMD7 90167 broad.mit.edu 37 X 131212510 131212510 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:131212510C>A uc004ewn.2 - 12 1713 c.1535G>T c.(1534-1536)AGA>ATA p.R512I FRMD7_uc011muy.1_Missense_Mutation_p.R497I NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 512 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) TTCCTCTGCTCTAATTGGGGA 0.483 NA 58 239 2.14255e-21 4.66149e-21 0.00361 1 0 USP26 83844 broad.mit.edu 37 X 132160953 132160953 + Nonsense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:132160953G>T uc010nrm.1 - 6 1766 c.1296C>A c.(1294-1296)TGC>TGA p.C432* USP26_uc011mvf.1_Nonsense_Mutation_p.C432* NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 432 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity lung(3)|central_nervous_system(3)|kidney(1)|liver(1) 8 Acute lymphoblastic leukemia(192;0.000127) TAATGACAGGGCAAGAAAACC 0.378 NSCLC(104;342 1621 36940 47097 52632) NA 22 109 1.9806e-07 2.94347e-07 0.002299 1 0 SAGE1 55511 broad.mit.edu 37 X 134983834 134983834 + Nonsense_Mutation SNP G G A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:134983834G>A uc004ezh.2 + 3 371 c.204G>A c.(202-204)TGG>TGA p.W68* SAGE1_uc010nry.1_Nonsense_Mutation_p.W68*|SAGE1_uc011mvv.1_Nonsense_Mutation_p.W68* NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 68 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) TGTCCTCGTGGTTAGACAAAC 0.428 NA 65 298 0 0 0.00361 0 0 MAGEA8 4107 broad.mit.edu 37 X 149013289 149013289 + Missense_Mutation SNP C C G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:149013289C>G uc004fdw.1 + 3 458 c.243C>G c.(241-243)AGC>AGG p.S81R NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 81 0 Acute lymphoblastic leukemia(192;6.56e-05) CTCTGTGGAGCCAATCCGATG 0.597 NA 20 91 0 0 0.007413 0 0 GPR50 9248 broad.mit.edu 37 X 150349618 150349618 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:150349618C>A uc010ntg.1 + 2 1698 c.1563C>A c.(1561-1563)CCC>CCA p.P521P NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 521 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTGACTATCCCAAGCCTGCCA 0.612 NA 28 80 2.40579e-17 4.88234e-17 0.00623 1 0 MAGEA4 4103 broad.mit.edu 37 X 151092221 151092221 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:151092221C>A uc004fez.2 + 3 241 c.85C>A c.(85-87)CAG>AAG p.Q29K MAGEA4_uc004ffa.2_Missense_Mutation_p.Q29K|MAGEA4_uc004ffb.2_Missense_Mutation_p.Q29K|MAGEA4_uc004ffc.2_Missense_Mutation_p.Q29K|MAGEA4_uc004ffd.2_Missense_Mutation_p.Q29K NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 29 protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GGTGGGTGCACAGGCTCCTAC 0.612 NA 23 80 2.89027e-11 4.96797e-11 0.002299 1 0 HCFC1 3054 broad.mit.edu 37 X 153219071 153219071 + Missense_Mutation SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:153219071C>A uc004fjp.2 - 18 5012 c.4484G>T c.(4483-4485)GGC>GTC p.G1495V NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 1495 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACAGAGGGGCCCGGGACCGG 0.652 NA 13 62 0.00185496 0.00224548 0.001855 1 0 PLXNA3 55558 broad.mit.edu 37 X 153694526 153694526 + Silent SNP C C A TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chrX:153694526C>A uc004flm.2 + 15 2885 c.2712C>A c.(2710-2712)CCC>CCA p.P904P NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 904 IPT/TIG 1.|Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGCTGGTGCCCAGCCCGCCGC 0.682 NA 14 77 1.37285e-15 2.6313e-15 0.004007 1 0 JUN 3725 broad.mit.edu 37 1 59247873 59247873 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:59247873delC uc001cze.2 - 1 1913 c.870delG c.(868-870)CAGfs p.Q290fs uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 290 Leucine-zipper. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) GCTCCGAGTTCTGAGCTTTCA 0.542 NA A sarcoma OREG0013518 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 173 --- --- --- --- NA NA NA NA NA COL11A1 1301 broad.mit.edu 37 1 103355036 103355036 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr1:103355036delC uc001dul.2 - 59 4757 c.4439delG c.(4438-4440)GGAfs p.G1480fs COL11A1_uc001duk.2_Frame_Shift_Del_p.G676fs|COL11A1_uc001dum.2_Frame_Shift_Del_p.G1492fs|COL11A1_uc001dun.2_Frame_Shift_Del_p.G1441fs|COL11A1_uc009weh.2_Frame_Shift_Del_p.G1364fs NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1480 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TCCTGGAGATCCTTGAGTTCC 0.393 NA 19 98 --- --- --- --- NA NA NA NA NA SWAP70 23075 broad.mit.edu 37 11 9759806 9759806 + Frame_Shift_Del DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr11:9759806delG uc001mhw.2 + 8 1226 c.1127delG c.(1126-1128)CGCfs p.R376fs SWAP70_uc001mhv.2_Frame_Shift_Del_p.R376fs|SWAP70_uc001mhx.2_Frame_Shift_Del_p.R318fs NM_015055 NP_055870 Q9UH65 SWP70_HUMAN SWAP-70 protein 376 Potential. cytoplasm|lamellipodium|nucleus|plasma membrane calcium ion binding|DNA binding ovary(2)|central_nervous_system(1) 3 all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649) GAAAAGAAACGCCTTCAGACT 0.478 NA 16 76 --- --- --- --- NA NA NA NA NA ZIC2 7546 broad.mit.edu 37 13 100635008 100635010 + In_Frame_Del DEL CCA CCA - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 CCA CCA - - CCA CCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr13:100635008_100635010delCCA uc001von.2 + 1 690_692 c.690_692delCCA c.(688-693)GCCCAC>GCC p.H239del NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 239 Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-His. Missing.|H -> HH. brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CAGCCGCGGCccaccaccaccac 0.522 Pancreas(97;119 1522 31925 44771 48764) NA 7 82 --- --- --- --- NA NA NA NA NA FANCM 57697 broad.mit.edu 37 14 45639873 45639873 + Frame_Shift_Del DEL G G - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:45639873delG uc001wwd.3 + 12 2183 c.2084delG c.(2083-2085)AGGfs p.R695fs FANCM_uc010anf.2_Frame_Shift_Del_p.R669fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.R231fs NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 695 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TATAGATTAAGGGACAGTGAT 0.294 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 12 66 --- --- --- --- NA NA NA NA NA FRMD6 122786 broad.mit.edu 37 14 52178252 52178252 + Frame_Shift_Del DEL A A - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr14:52178252delA uc001wzd.2 + 8 1003 c.718delA c.(718-720)AAAfs p.K240fs FRMD6_uc001wzb.2_Frame_Shift_Del_p.K232fs|FRMD6_uc001wzc.2_Frame_Shift_Del_p.K232fs|FRMD6_uc001wze.2_Frame_Shift_Del_p.K163fs|FRMD6_uc001wzf.2_5'Flank NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 240 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) CCTACAGGATAAAAGGGAAAT 0.323 NA 8 53 --- --- --- --- NA NA NA NA NA ATP8B3 148229 broad.mit.edu 37 19 1796145 1796145 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr19:1796145delC uc002ltw.2 - 17 2107 c.1873delG c.(1873-1875)GAGfs p.E625fs ATP8B3_uc002ltv.2_Frame_Shift_Del_p.E578fs|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 625 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACCCGTTCCTCCCCCAGCTCC 0.677 NA OREG0025127 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 63 --- --- --- --- NA NA NA NA NA LOC401010 401010 broad.mit.edu 37 2 132200298 132200299 + Frame_Shift_Ins INS - - G TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr2:132200298_132200299insG uc002tst.2 - 1 2169_2170 c.1703_1704insC c.(1702-1704)GCGfs p.A568fs NR_002826 SubName: Full=cDNA FLJ12694 fis, clone NT2RP1000358, highly similar to Homo sapiens mRNA; cDNA DKFZp564C186 (from clone DKFZp564C186); 0 GGGCCAGCCCCGCCTCTGCGTC 0.53 NA 9 23 --- --- --- --- NA NA NA NA NA NIPBL 25836 broad.mit.edu 37 5 37049317 37049317 + Frame_Shift_Del DEL T T - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr5:37049317delT uc003jkl.3 + 40 7367 c.6868delT c.(6868-6870)TTTfs p.F2290fs NIPBL_uc003jkk.3_Frame_Shift_Del_p.F2290fs|NIPBL_uc003jkn.2_5'Flank NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2290 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) GCTTGAGGCATTTTTTCACAC 0.403 NA 7 2137 --- --- --- --- NA NA NA NA NA IFNA7 3444 broad.mit.edu 37 9 21202041 21202041 + Frame_Shift_Del DEL C C - TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq f9cc1d71-bece-4693-b953-3e73d1b6c11c 7d906a56-6db5-4619-948c-30a21f5c40c9 g.chr9:21202041delC uc003zop.1 - 1 164 c.124delG c.(124-126)GCAfs p.A42fs IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN interferon, alpha 7 precursor 42 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding 0 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CCCATTTGTGCCAGGAGTATC 0.512 NA 49 223 --- --- --- --- NA NA NA NA NA