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 TNFRSF4 7293 broad.mit.edu 37 1 1148430 1148430 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:1148430G>A uc001ade.2 - 3 317 c.312C>T c.(310-312)GAC>GAT p.D104D TNFRSF4_uc001adf.2_Silent_p.D108D NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 104 TNFR-Cys 2.|Extracellular (Potential). immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GGCAGACTGTGTCCTGTGTGG 0.692 NA 5 28 0 0 0.004482 0 0 FAM132A 388581 broad.mit.edu 37 1 1178014 1178014 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:1178014C>A uc001adl.1 - 8 855 c.823G>T c.(823-825)GCT>TCT p.A275S NM_001014980 NP_001014980 Q5T7M4 F132A_HUMAN family with sequence similarity 132, member A 275 extracellular region 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AACACAGAAGCGTACTGTCCA 0.672 NA 3 8 6.4e-05 7.32707e-05 0.004672 1 0 ACAP3 116983 broad.mit.edu 37 1 1237394 1237394 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:1237394C>A uc001aeb.2 - 5 386 c.312G>T c.(310-312)CGG>CGT p.R104R ACAP3_uc001aea.2_Silent_p.R62R|ACAP3_uc001aec.1_Silent_p.R62R NM_030649 NP_085152 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH 104 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding 0 GGAGCTGCTGCCGCACGGACC 0.652 NA 4 90 5.9392e-07 7.45051e-07 0.001168 1 0 ACTRT2 140625 broad.mit.edu 37 1 2938683 2938683 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:2938683G>A uc001ajz.2 + 1 638 c.433G>A c.(433-435)GCT>ACT p.A145T NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN actin-related protein M2 145 cytoplasm|cytoskeleton 0 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GGCGGTGCTGGCTCTCTACGC 0.632 NA 8 52 0 0 0.00308 0 0 TAS1R1 80835 broad.mit.edu 37 1 6631143 6631143 + Silent SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:6631143A>T uc001ant.2 + 2 366 c.366A>T c.(364-366)CCA>CCT p.P122P TAS1R1_uc001anu.2_Silent_p.P122P|TAS1R1_uc001anv.2_Silent_p.P122P|TAS1R1_uc001anw.2_Silent_p.P122P NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 122 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|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;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) TCTCCCTGCCAGGGCAACACC 0.587 NA 14 179 0 0 0.003163 0 0 SPEN 23013 broad.mit.edu 37 1 16265829 16265829 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:16265829C>T uc001axk.1 + 15 11106 c.10902C>T c.(10900-10902)TTC>TTT p.F3634F SPEN_uc010obp.1_Silent_p.F3593F NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 3634 SPOC. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CCTGTGAGTTCTCTGAGAGTC 0.582 NA 74 135 0 0 0.00361 0 0 TAS1R2 80834 broad.mit.edu 37 1 19186147 19186147 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:19186147G>T uc001bba.1 - 1 9 c.8C>A c.(7-9)CCC>CAC p.P3H NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 3 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CTTTGCCCTGGGCCCCATGGC 0.562 NA 9 66 1.58986e-06 1.92151e-06 0.008291 1 0 RHD 6007 broad.mit.edu 37 1 25627475 25627475 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:25627475C>A uc001bjz.2 + 4 583 c.525C>A c.(523-525)TTC>TTA p.F175L RHD_uc010oep.1_Missense_Mutation_p.F175L|RHD_uc001bkc.2_Missense_Mutation_p.F175L|RHD_uc009vrm.2_Missense_Mutation_p.F7L|RHD_uc001bka.2_Missense_Mutation_p.F175L|RHD_uc001bkb.2_Missense_Mutation_p.F175L|RHD_uc009vrn.2_Missense_Mutation_p.F175L|RHD_uc009vro.2_Missense_Mutation_p.F175L|RHD_uc009vrp.2_Missense_Mutation_p.F175L NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 175 Helical; (Potential). integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCTACGTGTTCGCAGCCTATT 0.532 NA 25 152 9.86323e-18 1.53976e-17 0.003954 1 0 CSMD2 114784 broad.mit.edu 37 1 34258067 34258067 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:34258067C>T uc001bxn.1 - 11 1416 c.1387G>A c.(1387-1389)GGT>AGT p.G463S CSMD2_uc001bxm.1_Missense_Mutation_p.G503S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 463 CUB 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCACCATCACCGACCGTCAGG 0.572 NA 30 65 0 0 0.002096 0 0 POMGNT1 55624 broad.mit.edu 37 1 46658031 46658031 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:46658031C>T uc001cpe.2 - 16 1526 c.1362G>A c.(1360-1362)AGG>AGA p.R454R POMGNT1_uc010olx.1_Silent_p.R432R|POMGNT1_uc010oly.1_RNA|POMGNT1_uc010olz.1_Silent_p.R311R|POMGNT1_uc001cpg.2_Silent_p.R454R|POMGNT1_uc001cpf.2_Silent_p.R121R|POMGNT1_uc001cph.1_Silent_p.R32R|POMGNT1_uc001cpi.1_Silent_p.R121R NM_017739 NP_060209 Q8WZA1 PMGT1_HUMAN O-linked mannose 454 Lumenal (Potential). protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity ovary(1) 1 Acute lymphoblastic leukemia(166;0.155) ACAAGGACCTCCTGAGCACCC 0.602 NA 9 68 0 0 0.004482 0 0 LRRC42 115353 broad.mit.edu 37 1 54417792 54417792 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:54417792G>T uc001cwj.1 + 2 320 c.120G>T c.(118-120)AAG>AAT p.K40N LRRC42_uc001cwl.1_Missense_Mutation_p.K40N|LRRC42_uc001cwk.1_Missense_Mutation_p.K40N|LRRC42_uc009vzm.1_Missense_Mutation_p.K40N NM_052940 NP_443172 Q9Y546 LRC42_HUMAN leucine rich repeat containing 42 40 0 GCCTGCAGAAGCCAAGGCCTT 0.517 NA 30 72 2.85442e-18 4.46847e-18 0.002096 1 0 FAM151A 338094 broad.mit.edu 37 1 55080475 55080475 + Missense_Mutation SNP C C T rs150113940 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:55080475C>T uc001cxn.2 - 4 605 c.473G>A c.(472-474)CGG>CAG p.R158Q ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 158 integral to membrane 0 TGTCAGCTGCCGCAGGAGGTC 0.557 NA 5 59 0 0 0.001168 0 0 C1orf168 199920 broad.mit.edu 37 1 57257990 57257990 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:57257990C>A uc001cym.3 - 2 902 c.496G>T c.(496-498)GCC>TCC p.A166S C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Missense_Mutation_p.A166S NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 166 ovary(3)|skin(2) 5 AGATGGATGGCCTTACTTCCA 0.483 NA 6 121 0.00116845 0.00125798 0.001168 1 0 PDE4B 5142 broad.mit.edu 37 1 66713283 66713283 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:66713283A>T uc001dcn.2 + 4 613 c.422A>T c.(421-423)GAC>GTC p.D141V PDE4B_uc009war.2_Missense_Mutation_p.D49V|PDE4B_uc001dco.2_Missense_Mutation_p.D141V|PDE4B_uc001dcp.2_Missense_Mutation_p.D126V NM_001037341 NP_001032418 Q07343 PDE4B_HUMAN phosphodiesterase 4B isoform 1 141 signal transduction cytosol|insoluble fraction|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding ovary(2)|central_nervous_system(1) 3 Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277) TCAGACAGCGACTATGACTTG 0.527 NA 25 132 0 0 0.003954 0 0 ZZZ3 26009 broad.mit.edu 37 1 78098198 78098198 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:78098198T>C uc001dhq.2 - 5 1318 c.842A>G c.(841-843)AAA>AGA p.K281R ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.K281R|ZZZ3_uc001dhp.2_Missense_Mutation_p.K281R NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 AGTTACTATTTTGTGGTCCTC 0.443 NA 55 91 0 0 0.00361 0 0 GBP6 163351 broad.mit.edu 37 1 89846073 89846073 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:89846073G>A uc001dnf.2 + 6 1028 c.754G>A c.(754-756)GTG>ATG p.V252M GBP6_uc010ost.1_Missense_Mutation_p.V122M NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 252 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TATTGAGAAGGTGTCAGAAAA 0.438 NA 7 48 0 0 0.001984 0 0 EVI5 7813 broad.mit.edu 37 1 93131509 93131509 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:93131509T>A uc001dox.2 - 11 1341 c.1331A>T c.(1330-1332)GAG>GTG p.E444V EVI5_uc010otf.1_Missense_Mutation_p.E444V|EVI5_uc001doy.1_RNA NM_005665 NP_005656 O60447 EVI5_HUMAN ecotropic viral integration site 5 444 Dimerization.|Targeting to the centrosomes.|Potential.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity ovary(1)|breast(1) 2 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) TTCTAATGTCTCGATGCGCTG 0.313 NA 9 65 0 0 0.008291 0 0 DPYD 1806 broad.mit.edu 37 1 97981448 97981448 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:97981448T>C uc001drv.2 - 13 1711 c.1574A>G c.(1573-1575)TAC>TGC p.Y525C NM_000110 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase isoform 1 525 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity ovary(3)|skin(3)|breast(2) 8 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) AATAGGAGTGTAAAAGAGGGG 0.413 NA 23 42 0 0 0.002299 0 0 AP4B1 10717 broad.mit.edu 37 1 114437980 114437980 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:114437980G>C uc001eeb.2 - 10 2070 c.1927C>G c.(1927-1929)CAG>GAG p.Q643E uc001edv.1_Intron|AP4B1_uc001eec.2_Missense_Mutation_p.Q475E|AP4B1_uc001eed.2_Missense_Mutation_p.Q643E|AP4B1_uc010owp.1_Missense_Mutation_p.Q544E|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_3'UTR NM_006594 NP_006585 Q9Y6B7 AP4B1_HUMAN adaptor-related protein complex 4, beta 1 643 intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|soluble fraction|trans-Golgi network protein binding|protein transporter activity ovary(3)|central_nervous_system(1) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AACACTTGCTGATGAGCAACT 0.498 NA 5 133 0 0 0.001984 0 0 SYCP1 6847 broad.mit.edu 37 1 115487071 115487071 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:115487071G>T uc001efr.2 + 24 2247 c.2038G>T c.(2038-2040)GAA>TAA p.E680* SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Nonsense_Mutation_p.E680*|SYCP1_uc009wgw.2_Nonsense_Mutation_p.E680* NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 680 Nuclear localization signal (Potential).|Potential. cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATCTTTTGGAAGAGGTGGG 0.269 NA 12 42 1.61879e-10 2.23528e-10 0.001368 1 0 FLG2 388698 broad.mit.edu 37 1 152325739 152325739 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:152325739T>C uc001ezw.3 - 3 4596 c.4523A>G c.(4522-4524)GAA>GGA p.E1508G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 1508 Filaggrin 5. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGAGTGCACTTCACTGTCACT 0.502 NA 13 814 0 0 0.001855 0 0 FLG2 388698 broad.mit.edu 37 1 152329152 152329152 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:152329152C>A uc001ezw.3 - 3 1183 c.1110G>T c.(1108-1110)TGG>TGT p.W370C uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 370 Ser-rich. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCTGTTCTCCATTGTCCTC 0.483 NA 55 124 1.63038e-21 2.62542e-21 0.00361 1 0 SCAMP3 10067 broad.mit.edu 37 1 155226464 155226464 + Splice_Site SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:155226464C>G uc001fjs.2 - 8 1150 c.897_splice c.e8+1 p.R299_splice RAG1AP1_uc010pey.1_Intron|FAM189B_uc001fjm.2_5'Flank|FAM189B_uc001fjn.2_5'Flank|FAM189B_uc001fjo.2_5'Flank|FAM189B_uc001fjp.2_5'Flank|FAM189B_uc001fjq.1_5'Flank|SCAMP3_uc001fjr.2_Splice_Site_p.R146_splice|SCAMP3_uc001fju.2_Splice_Site_p.R285_splice|SCAMP3_uc001fjv.2_Splice_Site|SCAMP3_uc001fjt.2_Splice_Site_p.R273_splice NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) ACAGCCCTCACCCGTTTCAGC 0.607 NA 10 75 0 0 0.006214 0 0 UBQLN4 56893 broad.mit.edu 37 1 156020953 156020953 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:156020953C>A uc001fna.2 - 3 450 c.426G>T c.(424-426)GGG>GGT p.G142G UBQLN4_uc010pgx.1_Intron NM_020131 NP_064516 Q9NRR5 UBQL4_HUMAN ataxin-1 ubiquitin-like interacting protein 142 cytosol|endoplasmic reticulum membrane|nucleus identical protein binding pancreas(1)|skin(1) 2 Hepatocellular(266;0.133)|all_neural(408;0.195) CCGGAGAGGGCCCCCCACCAC 0.647 NA 15 28 1.5739e-10 2.19486e-10 0.004007 1 0 FCRL2 79368 broad.mit.edu 37 1 157738381 157738381 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:157738381T>A uc001fre.2 - 5 765 c.706A>T c.(706-708)ACA>TCA p.T236S FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T236S|FCRL2_uc009wsp.2_Intron NM_030764 NP_110391 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 precursor 236 Ig-like C2-type 3.|Extracellular (Potential). cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity ovary(1)|pancreas(1) 2 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGGAGAATGTGACATTTCCT 0.542 NA 92 211 0 0 0.00361 0 0 CD1B 910 broad.mit.edu 37 1 158300661 158300661 + Missense_Mutation SNP C C G rs149817745 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:158300661C>G uc001frx.2 - 2 361 c.253G>C c.(253-255)GAG>CAG p.E85Q CD1B_uc001frw.2_5'UTR|CD1B_uc010pic.1_Missense_Mutation_p.E85Q NM_001764 NP_001755 P29016 CD1B_HUMAN CD1B antigen precursor 85 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding ovary(2) 2 all_hematologic(112;0.0378) AATATCTCCTCTAACTCAGCA 0.458 NA 67 624 0 0 0.00361 0 0 SPTA1 6708 broad.mit.edu 37 1 158647525 158647525 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:158647525G>T uc001fst.1 - 7 1111 c.912C>A c.(910-912)CAC>CAA p.H304Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 304 Spectrin 4. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CCTTGTGACTGTGAAACAGTC 0.478 NA 7 109 8.12818e-05 9.24704e-05 0.001984 1 0 OR6N1 128372 broad.mit.edu 37 1 158735770 158735770 + Silent SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:158735770T>G uc010piq.1 - 1 703 c.703A>C c.(703-705)AGG>CGG p.R235R NM_001005185 NP_001005185 Q8NGY5 OR6N1_HUMAN olfactory receptor, family 6, subfamily N, 235 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ATGGCCTTCCTCTTGCCGGCA 0.507 NA 12 184 0 0 0.000978 0 0 IFI16 3428 broad.mit.edu 37 1 159002405 159002405 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:159002405G>A uc001ftg.2 + 7 1543 c.1253G>A c.(1252-1254)AGC>AAC p.S418N IFI16_uc010pis.1_Missense_Mutation_p.S362N|IFI16_uc001fth.2_Missense_Mutation_p.S17N|IFI16_uc010pit.1_Missense_Mutation_p.S17N NM_005531 NP_005522 Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 418 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) TCAGAGGCCAGCACAACCTTC 0.493 NA 21 70 0 0 0.003271 0 0 CADM3 57863 broad.mit.edu 37 1 159163316 159163316 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:159163316G>T uc001ftl.2 + 4 628 c.486G>T c.(484-486)CGG>CGT p.R162R CADM3_uc009wsx.1_Silent_p.R196R|CADM3_uc009wsy.1_Silent_p.R162R|CADM3_uc001ftk.2_Silent_p.R196R NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 162 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) CTGCAGCCCGGCTCACCTGGA 0.517 NA 33 70 2.46105e-21 3.94049e-21 0.002096 1 0 PPOX 5498 broad.mit.edu 37 1 161138874 161138875 + Missense_Mutation DNP GC GC AT TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:161138874_161138875GC>AT uc001fyj.2 + 7 998_999 c.708_709GC>AT c.(706-711)TTGCCT>TTATCT p.P237S PPOX_uc001fyn.2_Intron|PPOX_uc001fyg.2_Missense_Mutation_p.P237S|PPOX_uc001fyl.2_Missense_Mutation_p.P203S|PPOX_uc001fym.2_RNA|PPOX_uc001fyk.2_Missense_Mutation_p.P75S|PPOX_uc001fyh.2_Missense_Mutation_p.P75S|PPOX_uc010pkg.1_Missense_Mutation_p.P75S|PPOX_uc009wuc.1_Missense_Mutation_p.P75S|PPOX_uc010pkh.1_Intron|PPOX_uc001fyi.2_Missense_Mutation_p.P75S NM_001122764 NP_001116236 P50336 PPOX_HUMAN protoporphyrinogen oxidase 237 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity ovary(1) 1 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TAGAGATGTTGCCTCAGGCCCT 0.629 NA Porphyria_Variegata 53 90 0 0 0.004672 0 0 TNR 7143 broad.mit.edu 37 1 175334328 175334328 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:175334328T>A uc001gkp.1 - 10 2486 c.2405A>T c.(2404-2406)GAC>GTC p.D802V TNR_uc009wwu.1_Missense_Mutation_p.D802V NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 802 Fibronectin type-III 6. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) AATGAGTCTGTCTGCTGGGGG 0.532 NA 20 65 0 0 0.008871 0 0 CEP350 9857 broad.mit.edu 37 1 180047644 180047644 + Silent SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:180047644A>G uc001gnt.2 + 29 6197 c.5814A>G c.(5812-5814)CTA>CTG p.L1938L CEP350_uc009wxl.2_Silent_p.L1937L|CEP350_uc001gnv.2_Silent_p.L73L NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1938 centrosome|nucleus|spindle ovary(4) 4 ACTCTCATCTAAACAGTGAAA 0.433 NA 11 50 0 0 0.000978 0 0 CACNA1E 777 broad.mit.edu 37 1 181701955 181701955 + Silent SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:181701955G>C uc001gow.2 + 20 2898 c.2733G>C c.(2731-2733)CGG>CGC p.R911R CACNA1E_uc009wxs.2_Silent_p.R799R|CACNA1E_uc001gox.1_Silent_p.R137R|CACNA1E_uc009wxt.2_Silent_p.R137R NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 911 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TTGAGGACCGGGCCAGGCACA 0.672 NA 10 159 0 0 0.008291 0 0 CACNA1E 777 broad.mit.edu 37 1 181745260 181745260 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:181745260C>A uc001gow.2 + 38 5328 c.5163C>A c.(5161-5163)GTC>GTA p.V1721V CACNA1E_uc009wxs.2_Silent_p.V1609V|CACNA1E_uc001gox.1_Silent_p.V947V|CACNA1E_uc009wxt.2_Silent_p.V947V NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1721 IV.|Helical; Name=S6 of repeat IV. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TTGTGGCCGTCATCATGGACA 0.552 NA 25 443 3.73148e-12 5.41884e-12 0.007291 1 0 CACNA1E 777 broad.mit.edu 37 1 181745334 181745334 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:181745334G>A uc001gow.2 + 38 5402 c.5237G>A c.(5236-5238)CGC>CAC p.R1746H CACNA1E_uc009wxs.2_Missense_Mutation_p.R1634H|CACNA1E_uc001gox.1_Missense_Mutation_p.R972H|CACNA1E_uc009wxt.2_Missense_Mutation_p.R972H NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1746 EF-hand.|Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GAGTTTGTCCGCGTCTGGGCA 0.607 NA 23 281 0 0 0.002299 0 0 C1orf26 54823 broad.mit.edu 37 1 185159774 185159774 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:185159774C>T uc001grg.3 + 10 1637 c.1523C>T c.(1522-1524)ACG>ATG p.T508M C1orf26_uc001grh.3_Missense_Mutation_p.T508M NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 508 PINc. 0 ATTCTGTGCACGTGAGTTTCA 0.308 NA 31 59 0 0 0.008361 0 0 F13B 2165 broad.mit.edu 37 1 197032176 197032176 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:197032176C>G uc001gtt.1 - 2 120 c.76G>C c.(76-78)GGT>CGT p.G26R NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 26 Sushi 1. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TGAGGAAAACCACAGGGTTTC 0.294 NA 80 249 0 0 0.00361 0 0 CNTN2 6900 broad.mit.edu 37 1 205039560 205039560 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:205039560G>T uc001hbr.2 + 19 2707 c.2438G>T c.(2437-2439)AGG>ATG p.R813M CNTN2_uc001hbq.1_Missense_Mutation_p.R704M|CNTN2_uc001hbs.2_Missense_Mutation_p.R601M NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 813 Fibronectin type-III 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CCAGAGCCCAGGGTGGCCCCT 0.582 Melanoma(183;2548 2817 37099 41192) NA 16 29 4.14922e-12 5.97913e-12 0.004007 1 0 DSTYK 25778 broad.mit.edu 37 1 205133027 205133027 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:205133027T>A uc001hbw.2 - 4 1445 c.1381A>T c.(1381-1383)ATC>TTC p.I461F DSTYK_uc001hbx.2_Missense_Mutation_p.I461F|DSTYK_uc001hby.1_Intron NM_015375 NP_056190 Q6XUX3 DUSTY_HUMAN receptor interacting protein kinase 5 isoform 1 461 cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(1) 1 ATCTGTCGGATGCAGCATTTG 0.483 NA 16 248 0 0 0.006122 0 0 CR1 1378 broad.mit.edu 37 1 207679324 207679324 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:207679324G>T uc001hfy.2 + 2 337 c.197G>T c.(196-198)GGG>GTG p.G66V CR1_uc009xcl.1_Missense_Mutation_p.G66V|CR1_uc001hfx.2_Missense_Mutation_p.G66V|CR1_uc010psg.1_Missense_Mutation_p.G66V|CR1_uc009xcj.1_Missense_Mutation_p.G66V|CR1_uc009xck.1_Missense_Mutation_p.G66V NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 66 Sushi 1.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 TTTCCCATTGGGACATATCTG 0.468 NA 68 155 4.83677e-39 8.33824e-39 0.00361 1 0 CR1 1378 broad.mit.edu 37 1 207751547 207751547 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:207751547G>T uc001hfy.2 + 21 3725 c.3585G>T c.(3583-3585)AGG>AGT p.R1195S CR1_uc009xcl.1_Missense_Mutation_p.R745S|CR1_uc001hfx.2_Missense_Mutation_p.R1645S NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 1195 Extracellular (Potential).|Sushi 19.|Sushi 18. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GCTGCTCCAGGGGTGAGTCTG 0.537 NA 15 194 1.3612e-06 1.65584e-06 0.003163 1 0 CENPF 1063 broad.mit.edu 37 1 214820636 214820636 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:214820636A>G uc001hkm.2 + 13 7897 c.7723A>G c.(7723-7725)AAA>GAA p.K2575E NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2671 Potential.|Sufficient for self-association.|Sufficient for centromere localization. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) GCTACAATCCAAAAATGCCTC 0.418 Colon(80;575 1284 11000 14801 43496) NA 4 67 0 0 0.009096 0 0 URB2 9816 broad.mit.edu 37 1 229779310 229779310 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:229779310A>T uc001hts.1 + 5 3801 c.3665A>T c.(3664-3666)GAT>GTT p.D1222V URB2_uc009xfd.1_Missense_Mutation_p.D1222V NM_014777 NP_055592 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog 1222 nucleolus central_nervous_system(2)|ovary(1) 3 GTCACTCAGGATATTGAGCCT 0.453 NA 8 182 0 0 0.004482 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232581492 232581492 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:232581492T>C uc001hvg.2 - 9 3294 c.3136A>G c.(3136-3138)AAA>GAA p.K1046E SIPA1L2_uc001hvf.2_Missense_Mutation_p.K120E NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1046 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CTGTCGAGTTTATATTCCACC 0.582 NA 64 175 0 0 0.00361 0 0 RYR2 6262 broad.mit.edu 37 1 237656311 237656311 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:237656311C>A uc001hyl.1 + 19 2005 c.1885C>A c.(1885-1887)CAG>AAG p.Q629K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 629 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) CCGTTCTAACCAGCATCTCAT 0.418 NA 12 32 4.36969e-10 5.98967e-10 0.001855 1 0 RYR2 6262 broad.mit.edu 37 1 237951363 237951363 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:237951363C>A uc001hyl.1 + 92 13524 c.13404C>A c.(13402-13404)CAC>CAA p.H4468Q NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4468 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) TTCACACACACAGATACGGAG 0.378 NA 12 25 4.3838e-07 5.52398e-07 0.001855 1 0 PLD5 200150 broad.mit.edu 37 1 242511434 242511434 + Silent SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:242511434T>A uc001hzn.1 - 2 427 c.300A>T c.(298-300)TCA>TCT p.S100S PLD5_uc001hzl.3_Silent_p.S38S|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_Missense_Mutation_p.Q6L Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 100 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) AATTTTTTTCTGAGAGTCCAT 0.453 NA 17 206 0 0 0.007413 0 0 C1orf101 257044 broad.mit.edu 37 1 244643077 244643077 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:244643077A>G uc001iam.2 + 5 376 c.317A>G c.(316-318)TAT>TGT p.Y106C C1orf101_uc001iak.1_5'UTR|C1orf101_uc001ial.2_Missense_Mutation_p.Y106C|C1orf101_uc010pym.1_5'UTR|C1orf101_uc010pyn.1_Missense_Mutation_p.Y109C NM_001130957 NP_001124429 Q5SY80 CA101_HUMAN hypothetical protein LOC257044 isoform 1 106 Extracellular (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121) all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154) CTGTGGTACTATAGAGTTAGG 0.284 NA 13 125 0 0 0.001368 0 0 OR2G3 81469 broad.mit.edu 37 1 247769209 247769209 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:247769209G>T uc010pyz.1 + 1 322 c.322G>T c.(322-324)GGC>TGC p.G108C NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTGGCACTGGGCTCCACTGA 0.488 NA 138 306 7.47599e-62 1.31297e-61 0.00361 1 0 OR6F1 343169 broad.mit.edu 37 1 247875457 247875457 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:247875457C>G uc001idj.1 - 1 601 c.601G>C c.(601-603)GTG>CTG p.V201L NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 201 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) ACAGCAATCACAAAGGCCACA 0.542 NA 28 166 0 0 0.00632 0 0 OR2T33 391195 broad.mit.edu 37 1 248436320 248436320 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:248436320G>T uc010pzi.1 - 1 797 c.797C>A c.(796-798)ACT>AAT p.T266N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|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;0.0245) GTCATGGTTAGTGGACCTATG 0.478 NA 105 245 1.70018e-41 2.95822e-41 0.00361 1 0 PRKCQ 5588 broad.mit.edu 37 10 6498720 6498720 + Silent SNP C C A rs55867019 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:6498720C>A uc001ijj.1 - 15 1638 c.1563G>T c.(1561-1563)GCG>GCT p.A521A PRKCQ_uc009xim.1_Silent_p.A521A|PRKCQ_uc001iji.1_Silent_p.A554A|PRKCQ_uc009xin.1_Silent_p.A485A|PRKCQ_uc010qax.1_Silent_p.A396A NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 521 Protein kinase. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 TTCCAAAATCCGCGATCTTGA 0.418 Ovarian(50;572 1126 10530 25349 30594) NA 25 50 9.22233e-05 0.000104706 0.004656 1 0 OPTN 10133 broad.mit.edu 37 10 13152401 13152401 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:13152401G>A uc001ilu.1 + 5 732 c.294G>A c.(292-294)ATG>ATA p.M98I OPTN_uc001ilv.1_Missense_Mutation_p.M98I|OPTN_uc001ilw.1_Missense_Mutation_p.M98I|OPTN_uc001ilx.1_Missense_Mutation_p.M98I|OPTN_uc001ily.1_Missense_Mutation_p.M98I|OPTN_uc010qbr.1_Missense_Mutation_p.M41I|OPTN_uc001ilz.1_Missense_Mutation_p.M98I NM_001008213 NP_001008214 Q96CV9 OPTN_HUMAN optineurin 98 Interaction with Rab8.|Potential. cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction perinuclear region of cytoplasm|trans-Golgi network protein C-terminus binding ovary(2) 2 AGCGTCTAATGGCCTTGAGTC 0.438 NA 4 43 0 0 0.009096 0 0 HSPA14 51182 broad.mit.edu 37 10 14894416 14894416 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:14894416T>G uc001inf.2 + 8 761 c.620T>G c.(619-621)GTC>GGC p.V207G NM_016299 NP_057383 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 isoform 1 207 'de novo' cotranslational protein folding cytosol ATP binding|protein binding ovary(2)|breast(2)|lung(1) 5 TCTCTCAGCGTCATGGAAGTT 0.348 NA 51 180 0 0 0.00361 0 0 FAM171A1 221061 broad.mit.edu 37 10 15255798 15255798 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:15255798C>T uc001iob.2 - 8 1796 c.1789G>A c.(1789-1791)GTC>ATC p.V597I NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 597 Cytoplasmic (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 GGCTGGCTGACATAGGAGTGG 0.562 NA 52 120 0 0 0.00361 0 0 ZNF485 220992 broad.mit.edu 37 10 44112635 44112635 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:44112635T>C uc010qfc.1 + 5 1338 c.1144T>C c.(1144-1146)TAT>CAT p.Y382H ZNF485_uc010qfd.1_Missense_Mutation_p.Y291H NM_145312 NP_660355 Q8NCK3 ZN485_HUMAN zinc finger protein 485 382 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGAAAAACCCTATCACTGTAA 0.433 NA 4 83 0 0 0.009096 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285350 44285350 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:44285350C>A uc010qfe.1 - 1 516 c.486G>T c.(484-486)CAG>CAT p.Q162H NR_002726 SubName: Full=cDNA FLJ52659, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=cDNA, FLJ79333, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=Heterogeneous nuclear ribonucleoprotein A3, isoform CRA_a; 0 TTTTTCCACTCTGCCTGTCTT 0.333 NA 22 51 4.35082e-09 5.8357e-09 0.010504 1 0 ALOX5 240 broad.mit.edu 37 10 45941036 45941036 + Silent SNP C C A rs28395861 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:45941036C>A uc001jce.2 + 14 2025 c.1926C>A c.(1924-1926)CTC>CTA p.L642L ALOX5_uc009xmt.2_Silent_p.L610L|ALOX5_uc010qfg.1_Silent_p.L585L NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 642 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) GCAAGAACCTCGAGGCCATTG 0.542 NA 25 71 1.04121e-07 1.34211e-07 0.005443 1 0 A1CF 29974 broad.mit.edu 37 10 52595854 52595854 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:52595854G>A uc001jjj.2 - 6 772 c.584C>T c.(583-585)GCG>GTG p.A195V A1CF_uc010qhn.1_Missense_Mutation_p.A203V|A1CF_uc001jji.2_Missense_Mutation_p.A195V|A1CF_uc001jjh.2_Missense_Mutation_p.A203V|A1CF_uc010qho.1_Missense_Mutation_p.A203V|A1CF_uc009xov.2_Missense_Mutation_p.A195V NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 195 RRM 2. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TTTCCTCCTCGCCATGGCAGC 0.488 NA 7 120 0 0 0.00308 0 0 UNC5B 219699 broad.mit.edu 37 10 73053217 73053217 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:73053217A>T uc001jro.2 + 12 2273 c.1828A>T c.(1828-1830)ACA>TCA p.T610S UNC5B_uc001jrp.2_Missense_Mutation_p.T599S NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 610 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 CTGTGGACCCACAGGCCTCCT 0.627 NA 35 99 0 0 0.003755 0 0 POLR3A 11128 broad.mit.edu 37 10 79773421 79773421 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:79773421A>T uc001jzn.2 - 11 1653 c.1559T>A c.(1558-1560)CTT>CAT p.L520H NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 520 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) CATCAGAACAAGGGCCTCTGC 0.438 NA 7 161 0 0 0.001984 0 0 AGAP11 119385 broad.mit.edu 37 10 88769657 88769657 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:88769657G>T uc001kee.2 + 12 2852 c.1648G>T c.(1648-1650)GTG>TTG p.V550L AGAP11_uc001kef.2_Intron NM_133447 NP_597704 Q8TF27 AGA11_HUMAN ankyrin repeat and GTPase domain Arf GTPase 550 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CGACGAGTGCGTGTAGTATCT 0.498 NA 28 140 4.92203e-23 8.08824e-23 0.00623 1 0 PI4K2A 55361 broad.mit.edu 37 10 99361691 99361691 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:99361691G>A uc010qoy.1 + 2 648 c.289G>A c.(289-291)GGG>AGG p.G97R DHDPSL_uc001kny.2_Missense_Mutation_p.G260R|DHDPSL_uc001knz.2_Missense_Mutation_p.G97R NM_018425 NP_060895 Q9BTU6 P4K2A_HUMAN phosphatidylinositol 4-kinase type 2 alpha Error:Variant_position_missing_in_Q9BTU6_after_alignment phosphatidylinositol biosynthetic process cytoplasm|integral to plasma membrane|membrane raft 1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding lung(1)|skin(1) 2 Colorectal(252;0.162) Epithelial(162;1.24e-10)|all cancers(201;1.2e-08) GTGCTGCACGGGGCAATGGGA 0.677 NA 9 50 0 0 0.006214 0 0 CHUK 1147 broad.mit.edu 37 10 101964958 101964958 + Splice_Site SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:101964958T>A uc001kqp.2 - 12 1287 c.1232_splice c.e12-1 p.V411_splice NM_001278 NP_001269 O15111 IKKA_HUMAN conserved helix-loop-helix ubiquitous kinase I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus ATP binding|identical protein binding|IkappaB kinase activity ovary(2)|central_nervous_system(2)|large_intestine(1)|lung(1)|breast(1) 7 Colorectal(252;0.117) Epithelial(162;2.05e-10)|all cancers(201;1.91e-08) TGTCCTGTACTATATACAAGA 0.398 Ovarian(159;52 1904 10536 35305 37148) NA 5 106 0 0 0.001168 0 0 CCDC147 159686 broad.mit.edu 37 10 106214201 106214201 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:106214201G>T uc001kyh.2 + 18 2666 c.2532G>T c.(2530-2532)ATG>ATT p.M844I NM_001008723 NP_001008723 Q5T655 CC147_HUMAN coiled-coil domain containing 147 844 ovary(2)|central_nervous_system(2)|skin(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CAGCACCCATGGATAACACCT 0.433 NA 38 183 1.67305e-13 2.46139e-13 0.00623 1 0 SORCS1 114815 broad.mit.edu 37 10 108380225 108380225 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:108380225G>A uc001kym.2 - 20 2765 c.2757C>T c.(2755-2757)GGC>GGT p.G919G SORCS1_uc001kyl.2_Silent_p.G919G|SORCS1_uc009xxs.2_Silent_p.G919G|SORCS1_uc001kyn.1_Silent_p.G919G|SORCS1_uc001kyo.2_Silent_p.G919G NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 919 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) AAGTGAGGGTGCCCACTTGGC 0.468 NA 11 125 0 0 0.008291 0 0 DOCK1 1793 broad.mit.edu 37 10 128821561 128821561 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:128821561G>T uc001ljt.2 + 14 1426 c.1362G>T c.(1360-1362)GTG>GTT p.V454V DOCK1_uc010qun.1_Silent_p.V475V NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 454 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) CGGTGTCTGTGTACGATGAGG 0.433 NA 15 340 1.37285e-15 2.08525e-15 0.004007 1 0 MKI67 4288 broad.mit.edu 37 10 129903152 129903152 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:129903152C>A uc001lke.2 - 13 7147 c.6952G>T c.(6952-6954)GGC>TGC p.G2318C MKI67_uc001lkf.2_Missense_Mutation_p.G1958C|MKI67_uc009yav.1_Missense_Mutation_p.G1893C|MKI67_uc009yaw.1_Missense_Mutation_p.G1468C NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 2318 16 X 122 AA approximate repeats.|11. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCTTTGAAGCCAGCCAGGTCT 0.502 NA 143 425 8.19216e-75 1.44326e-74 0.00361 1 0 LOC653544 653544 broad.mit.edu 37 10 135491123 135491123 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr10:135491123G>A uc010qvi.1 + 1 845 c.734G>A c.(733-735)GGC>GAC p.G245D NM_001127389 NP_001120861 F5GZ66 F5GZ66_HUMAN double homeobox, 4-like 245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCCCACACCGGCGCGTGGGGA 0.786 NA 4 30 0 0 0.008291 0 0 EIF4G2 1982 broad.mit.edu 37 11 10822111 10822111 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:10822111G>A uc001mjc.2 - 17 2145 c.1728C>T c.(1726-1728)CAC>CAT p.H576H EIF4G2_uc001mjb.2_Silent_p.H370H|EIF4G2_uc009ygf.2_Silent_p.H370H|EIF4G2_uc001mjd.2_Silent_p.H538H NM_001418 NP_001409 P78344 IF4G2_HUMAN eukaryotic translation initiation factor 4 576 MI. cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity ovary(1)|central_nervous_system(1) 2 all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) CAGGAAGAAAGTGTTTAGGAG 0.373 NA 70 77 0 0 0.00361 0 0 EHF 26298 broad.mit.edu 37 11 34680205 34680205 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:34680205G>T uc001mvr.1 + 8 844 c.733G>T c.(733-735)GTG>TTG p.V245L EHF_uc009yke.1_Missense_Mutation_p.V222L|EHF_uc009ykf.1_Missense_Mutation_p.V248L NM_012153 NP_036285 Q9NZC4 EHF_HUMAN ets homologous factor 245 ETS. cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_hematologic(20;0.117) Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235) ATCAGAGGCAGTGGCTCAGCT 0.458 NA 46 70 3.39706e-21 5.42371e-21 0.00361 1 0 PRDM11 56981 broad.mit.edu 37 11 45226314 45226314 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:45226314A>C uc001myo.2 + 6 890 c.641A>C c.(640-642)AAA>ACA p.K214T NM_020229 NP_064614 Q9NQV5 PRD11_HUMAN PR domain containing 11 214 SET. K -> E (in Ref. 1; AAF87244). upper_aerodigestive_tract(1) 1 GACGAGACCAAAGCCAACTGG 0.542 NSCLC(118;1511 1736 6472 36603 43224) NA 19 102 0 0 0.008871 0 0 OR5T2 219464 broad.mit.edu 37 11 56000616 56000616 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:56000616G>C uc010rjc.1 - 1 46 c.46C>G c.(46-48)CAT>GAT p.H16D NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) ACAACACCATGACTCAAGGGG 0.348 NA 18 102 0 0 0.010504 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605840 58605840 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:58605840A>T uc001nnd.3 - 3 211 c.80T>A c.(79-81)GTA>GAA p.V27E GLYATL2_uc009ymq.2_Missense_Mutation_p.V27E NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 27 mitochondrion glycine N-acyltransferase activity ovary(1)|skin(1) 2 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) GGCGCCATATACCTACGATGC 0.418 NA 3 55 0 0 0.004672 0 0 C11orf66 220004 broad.mit.edu 37 11 61250221 61250221 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:61250221C>T uc001nru.1 + 4 447 c.322C>T c.(322-324)CGC>TGC p.R108C C11orf66_uc009ynq.1_Missense_Mutation_p.R108C NM_145017 NP_659454 Q7Z5V6 CK066_HUMAN IIIG9 protein 108 ovary(1) 1 CTGGAGCATGCGCCAGACCAG 0.672 NA OREG0021002 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 21 0 0 0.010504 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65714870 65714870 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:65714870T>A uc001ogk.1 + 5 606 c.574T>A c.(574-576)TCA>ACA p.S192T TSGA10IP_uc009yqw.1_RNA|TSGA10IP_uc009yqx.1_Intron NM_152762 NP_689975 Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein 192 0 GGAGCTAGGATCAGAGCCCCC 0.642 NA 16 10 0 0 0.003163 0 0 SDHD 6392 broad.mit.edu 37 11 111959712 111959712 + Silent SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:111959712A>T uc001pmz.2 + 3 352 c.291A>T c.(289-291)GCA>GCT p.A97A TIMM8B_uc001pmx.2_5'Flank|TIMM8B_uc001pmy.2_5'Flank NM_003002 NP_002993 O14521 DHSD_HUMAN succinate dehydrogenase complex, subunit D 97 Helical; (By similarity). respiratory electron transport chain|transport|tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain complex II electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding 0 all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515) Succinic acid(DB00139) CCCTGGCTGCAGCCCTCACTC 0.468 NA Mis|N|F|S paraganglioma|pheochromocytoma Familial_Paragangliomas|Carney-Stratakis_syndrome|Cowden_syndrome 63 56 0 0 0.00361 0 0 APOA4 337 broad.mit.edu 37 11 116691784 116691784 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:116691784G>A uc001pps.1 - 3 1094 c.990C>T c.(988-990)GGC>GGT p.G330G NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) CCGCATGGGGGCCCAGTTTCT 0.592 NA 70 73 0 0 0.00361 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789980 133789980 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr11:133789980C>A uc001qgx.3 - 18 3871 c.3640G>T c.(3640-3642)GGC>TGC p.G1214C NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1214 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) TCAGGGGAGCCGGTGCGGGAG 0.701 NA 36 49 5.43694e-19 8.58303e-19 0.005524 1 0 EFCAB4B 84766 broad.mit.edu 37 12 3763466 3763466 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:3763466C>A uc001qmj.2 - 10 1530 c.958G>T c.(958-960)GAG>TAG p.E320* EFCAB4B_uc010sen.1_Nonsense_Mutation_p.E320*|EFCAB4B_uc010seo.1_Nonsense_Mutation_p.E320*|EFCAB4B_uc001qmi.1_RNA NM_032680 NP_116069 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B isoform c 320 Potential. activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) GAAGTCCGCTCCAGCTCCCGG 0.572 NA 19 30 4.63292e-17 7.13343e-17 0.008871 1 0 TPI1 7167 broad.mit.edu 37 12 6979285 6979285 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:6979285C>T uc001qrk.2 + 6 654 c.616C>T c.(616-618)CGT>TGT p.R206C TPI1_uc010sfo.1_Missense_Mutation_p.R124C NM_000365 NP_000356 P60174 TPIS_HUMAN triosephosphate isomerase 1 isoform 1 206 fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt cytosol triose-phosphate isomerase activity 0 TCAGAGCACCCGTATCATTTA 0.572 NA OREG0021638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 106 0 0 0.001984 0 0 ATN1 1822 broad.mit.edu 37 12 7048172 7048172 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:7048172T>A uc001qrw.1 + 7 3283 c.3046T>A c.(3046-3048)TCC>ACC p.S1016T ATN1_uc001qrx.1_Missense_Mutation_p.S1016T NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 1016 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 GCCTGACATGTCCTATGCTGA 0.667 NA 5 82 0 0 0.000602 0 0 A2M 2 broad.mit.edu 37 12 9243913 9243913 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:9243913A>G uc001qvk.1 - 19 2466 c.2353T>C c.(2353-2355)TCT>CCT p.S785P A2M_uc009zgk.1_Missense_Mutation_p.S635P NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 785 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) GCTCGGAGAGAGGCAGTGGAA 0.552 NA 16 89 0 0 0.004007 0 0 PZP 5858 broad.mit.edu 37 12 9317851 9317851 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:9317851A>G uc001qvl.2 - 19 2400 c.2371T>C c.(2371-2373)TCT>CCT p.S791P PZP_uc009zgl.2_Missense_Mutation_p.S660P|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.S123P NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GCTCGGAGAGAGGCAGTGGAA 0.552 Melanoma(125;1402 1695 4685 34487 38571) NA 23 73 0 0 0.002299 0 0 CLEC1A 51267 broad.mit.edu 37 12 10233927 10233927 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:10233927C>A uc001qxb.2 - 3 384 c.300G>T c.(298-300)TTG>TTT p.L100F CLEC1A_uc009zhf.2_Missense_Mutation_p.L12F|CLEC1A_uc001qxc.2_Missense_Mutation_p.L12F|CLEC1A_uc001qxd.2_Missense_Mutation_p.L57F|CLEC1A_uc010sgx.1_Intron NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 100 Extracellular (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 GAAGAGATTGCAACTCTTGGG 0.423 NA 27 52 2.79863e-10 3.84555e-10 0.004656 1 0 RPL13AP20 387841 broad.mit.edu 37 12 13028751 13028751 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:13028751G>C uc010sho.1 + 1 341 c.319G>C c.(319-321)GGC>CGC p.G107R NR_003932 SubName: Full=Ribosomal protein L13a variant; Flags: Fragment; 0 GGTGTTTGACGGCATCCCACC 0.612 NA 3 13 0 0 0.004672 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21331534 21331534 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:21331534A>G uc001req.3 + 6 610 c.506A>G c.(505-507)TAC>TGC p.Y169C NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 169 Helical; Name=4; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TCTGGGTCATACATGTGGATA 0.333 NA 27 63 0 0 0.005443 0 0 CNTN1 1272 broad.mit.edu 37 12 41323638 41323638 + Silent SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:41323638A>G uc001rmm.1 + 7 650 c.537A>G c.(535-537)GTA>GTG p.V179V CNTN1_uc009zjy.1_Silent_p.V179V|CNTN1_uc001rmn.1_Silent_p.V168V|CNTN1_uc001rmo.2_Silent_p.V179V NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 179 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) AATTTCCTGTATTTATCACAA 0.363 NA 13 67 0 0 0.001368 0 0 DDN 23109 broad.mit.edu 37 12 49391858 49391858 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:49391858C>T uc001rsv.1 - 2 819 c.801G>A c.(799-801)GGG>GGA p.G267G uc001rsw.2_5'Flank NM_015086 NP_055901 O94850 DEND_HUMAN dendrin 267 dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon large_intestine(1) 1 TCTTTGTGCGCCCTCCGTCTG 0.647 NA 14 83 0 0 0.004007 0 0 KRT74 121391 broad.mit.edu 37 12 52967091 52967091 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:52967091C>A uc001sap.1 - 1 519 c.471G>T c.(469-471)AAG>AAT p.K157N NM_175053 NP_778223 Q7RTS7 K2C74_HUMAN keratin 6 irs4 157 Coil 1A.|Rod. keratin filament structural molecule activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(357;0.191) TGAGACCCACCTTGTCAATGA 0.592 NA 11 98 5.50884e-06 6.55925e-06 0.001368 1 0 TMTC3 160418 broad.mit.edu 37 12 88566501 88566501 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:88566501G>T uc001tau.2 + 8 1398 c.1178G>T c.(1177-1179)TGG>TTG p.W393L TMTC3_uc009zsm.2_RNA NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN transmembrane and tetratricopeptide repeat 393 Helical; (Potential). integral to membrane binding skin(1) 1 GCCCATGGATGGCAGAAAATA 0.343 NA 14 89 1.05317e-09 1.43661e-09 0.00245 1 0 KERA 11081 broad.mit.edu 37 12 91449623 91449623 + Nonsense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:91449623G>A uc001tbl.2 - 2 1055 c.436C>T c.(436-438)CAA>TAA p.Q146* NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 146 LRR 4. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 AATTGTAATTGTTCTAAACTT 0.408 NA 14 148 0 0 0.001855 0 0 KERA 11081 broad.mit.edu 37 12 91449625 91449625 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:91449625T>C uc001tbl.2 - 2 1053 c.434A>G c.(433-435)GAA>GGA p.E145G NM_007035 NP_008966 O60938 KERA_HUMAN keratocan precursor 145 LRR 4. response to stimulus|visual perception proteinaceous extracellular matrix skin(1) 1 TTGTAATTGTTCTAAACTTCT 0.403 NA 14 148 0 0 0.00245 0 0 CCDC41 51134 broad.mit.edu 37 12 94794689 94794689 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:94794689A>C uc001tdd.2 - 6 1072 c.486T>G c.(484-486)TTT>TTG p.F162L CCDC41_uc001tde.2_Missense_Mutation_p.F162L|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.F162L NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 154 Potential. 0 TCTGGTGTTCAAATTCTGACT 0.308 NA 14 116 0 0 0.00245 0 0 GAS2L3 283431 broad.mit.edu 37 12 101017690 101017690 + Silent SNP C C A rs149531123 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:101017690C>A uc001thu.2 + 10 1333 c.1107C>A c.(1105-1107)GTC>GTA p.V369V GAS2L3_uc009zty.2_Silent_p.V369V|GAS2L3_uc001thv.2_Silent_p.V265V NM_174942 NP_777602 Q86XJ1 GA2L3_HUMAN growth arrest-specific 2 like 3 369 cell cycle arrest skin(1) 1 CTATGTCAGTCCGTTCTAAAT 0.453 NA 40 115 9.85913e-13 1.44292e-12 0.009718 1 0 CCDC53 51019 broad.mit.edu 37 12 102433651 102433651 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:102433651G>C uc010svw.1 - 5 589 c.430C>G c.(430-432)CAA>GAA p.Q144E CCDC53_uc010svx.1_RNA|CCDC53_uc010svy.1_RNA|CCDC53_uc010svz.1_Missense_Mutation_p.Q143E NM_016053 NP_057137 Q9Y3C0 CCD53_HUMAN coiled-coil domain containing 53 144 WASH complex protein binding 0 CTTACCACTTGAACCATTTTG 0.383 NA 21 169 0 0 0.00333 0 0 FZD10 11211 broad.mit.edu 37 12 130647951 130647951 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:130647951C>G uc001uii.2 + 1 920 c.464C>G c.(463-465)TCG>TGG p.S155W uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 155 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) AACAACGGCTCGGACGAGCCC 0.632 NA 4 67 0 0 0.009096 0 0 ULK1 8408 broad.mit.edu 37 12 132401562 132401562 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:132401562G>T uc001uje.2 + 21 2405 c.2137G>T c.(2137-2139)GAC>TAC p.D713Y NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 713 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) ACAAGCCCCGGACCCGGGCAG 0.527 NA 29 68 5.45727e-16 8.3342e-16 0.008361 1 0 NBEA 26960 broad.mit.edu 37 13 35630253 35630253 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr13:35630253T>G uc001uvb.2 + 8 1285 c.1079T>G c.(1078-1080)GTT>GGT p.V360G NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 360 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GCTTGGCATGTTAACACAAAT 0.313 NA 17 50 0 0 0.00499 0 0 SETDB2 83852 broad.mit.edu 37 13 50038170 50038170 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr13:50038170A>C uc001vcz.2 + 5 1128 c.222A>C c.(220-222)AAA>AAC p.K74N SETDB2_uc010adg.2_Intron|SETDB2_uc001vcy.3_Intron|SETDB2_uc010adh.2_Intron|SETDB2_uc001vda.2_Intron NM_031915 NP_114121 Q96T68 SETB2_HUMAN SET domain, bifurcated 2 isoform a 74 cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent chromosome|nucleus DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.1e-09) catcacagaaagaagtgaatg 0.119 NA 7 12 0 0 0.00308 0 0 KLHL1 57626 broad.mit.edu 37 13 70681538 70681538 + Silent SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr13:70681538T>A uc001vip.2 - 1 1088 c.294A>T c.(292-294)CCA>CCT p.P98P KLHL1_uc010thm.1_Silent_p.P98P|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 98 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) TCGTGGCAACTGGAAGCAGGG 0.448 NA 15 40 0 0 0.00245 0 0 FOXG1 2290 broad.mit.edu 37 14 29237715 29237715 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr14:29237715C>T uc001wqe.2 + 1 1429 c.1230C>T c.(1228-1230)CTC>CTT p.L410L NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 410 axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) TCAACCTGCTCGCGGGCCAGA 0.682 NA 5 45 0 0 0.000602 0 0 KCNH5 27133 broad.mit.edu 37 14 63175029 63175029 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr14:63175029G>T uc001xfx.2 - 11 2215 c.2164C>A c.(2164-2166)CAG>AAG p.Q722K KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 722 Cytoplasmic (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) GTTGAGCCCTGATTCCGCAGC 0.577 NA 14 116 9.05144e-12 1.28783e-11 0.001855 1 0 DLK1 8788 broad.mit.edu 37 14 101201115 101201115 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr14:101201115A>C uc001yhs.3 + 5 1187 c.1034A>C c.(1033-1035)AAG>ACG p.K345T DLK1_uc001yhu.3_Missense_Mutation_p.K272T NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 345 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) ATGCTGCGGAAGAAGAAGAAC 0.577 NA 7 86 0 0 0.001984 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102452390 102452390 + Nonsense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr14:102452390C>T uc001yks.2 + 8 1992 c.1828C>T c.(1828-1830)CAG>TAG p.Q610* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 610 Interaction with DYNC1I2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCAGCTGATCCAGCGCGTGAA 0.507 NA 4 41 0 0 0.009096 0 0 OR4N3P 390539 broad.mit.edu 37 15 22414180 22414180 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:22414180G>T uc001yuf.2 + 1 479 c.479G>T c.(478-480)TGC>TTC p.C160F NM_001080841 NP_001074310 RecName: Full=Olfactory receptor 4N2; AltName: Full=Olfactory receptor OR14-8; AltName: Full=Olfactory receptor OR14-13; 0 ATGTCCACATGCACCACCCAT 0.488 NA 29 186 9.78306e-22 1.58446e-21 0.009535 1 0 TJP1 7082 broad.mit.edu 37 15 30024944 30024944 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:30024944G>A uc001zcr.2 - 14 2287 c.1812C>T c.(1810-1812)TTC>TTT p.F604F TJP1_uc010azl.2_Silent_p.F592F|TJP1_uc001zcq.2_Silent_p.F608F|TJP1_uc001zcs.2_Silent_p.F604F NM_003257 NP_003248 Q07157 ZO1_HUMAN tight junction protein 1 isoform a 604 Guanylate kinase-like. cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction ovary(4)|central_nervous_system(1)|pancreas(1) 6 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) GAAGACCTCTGAATCTCCAGA 0.453 Melanoma(77;681 1843 6309 6570) NA 23 40 0 0 0.001882 0 0 CHRNA7 1139 broad.mit.edu 37 15 32450697 32450697 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:32450697G>T uc001zft.2 + 7 755 c.683G>T c.(682-684)CGC>CTC p.R228L uc001zfv.1_Intron|CHRNA7_uc010bae.1_RNA|CHRNA7_uc010baf.2_Missense_Mutation_p.R47L|CHRNA7_uc010baj.1_Missense_Mutation_p.R88L|CHRNA7_uc010bak.2_Missense_Mutation_p.R143L NM_000746 NP_000737 P36544 ACHA7_HUMAN cholinergic receptor, nicotinic, alpha 7 228 Extracellular (Potential). activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding ovary(1) 1 all_lung(180;6.35e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) Nicotine(DB00184)|Varenicline(DB01273) ACCATGCGCCGCAGGACGCTC 0.592 Esophageal Squamous(193;529 2900 40232 43193) NA 36 113 1.08114e-33 1.84681e-33 0.00361 1 0 MEIS2 4212 broad.mit.edu 37 15 37184485 37184485 + Missense_Mutation SNP G G T rs139991974 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:37184485G>T uc001zjr.2 - 12 2360 c.1323C>A c.(1321-1323)CAC>CAA p.H441Q MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.H421Q|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Missense_Mutation_p.H434Q|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.H434Q|MEIS2_uc001zjj.2_Missense_Mutation_p.H137Q|MEIS2_uc001zjk.2_Missense_Mutation_p.H130Q NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 441 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) GGGGTCCTCCGTGCATCATCA 0.522 NA 135 279 1.00589e-60 1.7611e-60 0.00361 1 0 MEIS2 4212 broad.mit.edu 37 15 37184493 37184493 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:37184493T>G uc001zjr.2 - 12 2352 c.1315A>C c.(1315-1317)ATG>CTG p.M439L MEIS2_uc001zjl.2_3'UTR|MEIS2_uc010ucj.1_Missense_Mutation_p.M419L|MEIS2_uc001zjm.2_3'UTR|MEIS2_uc001zjn.2_3'UTR|MEIS2_uc001zjo.2_3'UTR|MEIS2_uc001zjp.2_3'UTR|MEIS2_uc001zjs.2_Missense_Mutation_p.M432L|MEIS2_uc001zju.2_3'UTR|MEIS2_uc001zjt.2_Missense_Mutation_p.M432L|MEIS2_uc001zjj.2_Missense_Mutation_p.M135L|MEIS2_uc001zjk.2_Missense_Mutation_p.M128L NM_170675 NP_733775 O14770 MEIS2_HUMAN Meis homeobox 2 isoform c 439 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(2) 2 all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155) all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288) CCGTGCATCATCATGGCTGGG 0.512 NA 130 271 0 0 0.00361 0 0 MAP1A 4130 broad.mit.edu 37 15 43821703 43821703 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:43821703C>G uc001zrt.2 + 4 8499 c.8032C>G c.(8032-8034)CCA>GCA p.P2678A NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 2678 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) CAAGGCAGGACCAAGTAAGTA 0.552 NA 5 41 0 0 0.001168 0 0 SEMA6D 80031 broad.mit.edu 37 15 48053382 48053382 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:48053382G>A uc010bek.2 + 5 670 c.310G>A c.(310-312)GAT>AAT p.D104N SEMA6D_uc001zvw.2_Missense_Mutation_p.D104N|SEMA6D_uc001zvx.1_Missense_Mutation_p.D104N|SEMA6D_uc001zvy.2_Missense_Mutation_p.D104N|SEMA6D_uc001zvz.2_Missense_Mutation_p.D104N|SEMA6D_uc001zwa.2_Missense_Mutation_p.D104N|SEMA6D_uc001zwb.2_Missense_Mutation_p.D104N|SEMA6D_uc001zwc.2_Missense_Mutation_p.D104N NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 104 Sema.|Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) AAGACAACAGGATCGAGAAAA 0.403 NA 6 27 0 0 0.001984 0 0 SNUPN 10073 broad.mit.edu 37 15 75902273 75902273 + Silent SNP G G A rs139633458 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:75902273G>A uc002ban.2 - 4 456 c.366C>T c.(364-366)GTC>GTT p.V122V SNUPN_uc002bao.2_Silent_p.V122V|SNUPN_uc002bap.2_Silent_p.V164V|SNUPN_uc002baq.2_Silent_p.V122V|SNUPN_uc002bar.2_Silent_p.V122V|SNUPN_uc002bas.2_Silent_p.V122V NM_005701 NP_005692 O95149 SPN1_HUMAN snurportin 1 122 Necessary for interaction with XPO1. ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly cytosol|nuclear pore protein transporter activity|RNA cap binding pancreas(1) 1 CAGGGCACACGACCACAATCC 0.502 NA 6 60 0 0 0.001984 0 0 SGK269 79834 broad.mit.edu 37 15 77471865 77471865 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:77471865C>A uc002bcm.2 - 3 2712 c.2404G>T c.(2404-2406)GAT>TAT p.D802Y SGK269_uc002bcn.2_Missense_Mutation_p.D802Y NM_024776 NP_079052 Q9H792 PEAK1_HUMAN NKF3 kinase family member 802 Pro-rich. 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) ACATCAGCATCTGGAGGAATG 0.512 NA 21 127 1.10923e-09 1.50941e-09 0.00278 1 0 ADAMTS7 11173 broad.mit.edu 37 15 79051780 79051780 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:79051780G>C uc002bej.3 - 24 5255 c.5044C>G c.(5044-5046)CGG>GGG p.R1682G NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 1682 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 CGGGCAACCCGCTGATGGCCT 0.731 NA 4 14 0 0 0.009096 0 0 RHCG 51458 broad.mit.edu 37 15 90019991 90019991 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:90019991A>G uc002bnz.2 - 9 1330 c.1306T>C c.(1306-1308)TGG>CGG p.W436R RHCG_uc002bny.2_Missense_Mutation_p.W207R|RHCG_uc002boa.2_RNA NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 436 Cytoplasmic (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) CTCACCTCCCAGTAGACCGCA 0.567 NA 14 67 0 0 0.004007 0 0 ANPEP 290 broad.mit.edu 37 15 90348375 90348375 + Silent SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:90348375C>G uc002bop.3 - 4 1123 c.831G>C c.(829-831)ACG>ACC p.T277T NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 277 Extracellular.|Interaction with HCoV-229E.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CCAGCAAGTACGTGGACATCT 0.567 NSCLC(30;827 977 2459 19669 26125) NA 28 171 0 0 0.005443 0 0 PKD1 5310 broad.mit.edu 37 16 2159381 2159382 + Missense_Mutation DNP CT CT AA TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:2159381_2159382CT>AA uc002cos.1 - 15 5995_5996 c.5786_5787AG>TT c.(5785-5787)GAG>GTT p.E1929V PKD1_uc002cot.1_Missense_Mutation_p.E1929V NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1929 Extracellular (Potential).|PKD 15. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CGGGGAGCACCTCGGGGTTGGC 0.698 NA 8 29 0 0 0.004672 0 0 PKD1 5310 broad.mit.edu 37 16 2164306 2164306 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:2164306C>A uc002cos.1 - 11 2927 c.2718G>T c.(2716-2718)GAG>GAT p.E906D PKD1_uc002cot.1_Missense_Mutation_p.E906D NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 906 Extracellular (Potential).|PKD 3. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 CCACCACGTGCTCCCCCTCAC 0.687 NA 9 35 0.000673444 0.000734904 0.008291 1 0 TRAF7 84231 broad.mit.edu 37 16 2225515 2225515 + Silent SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:2225515G>C uc002cow.2 + 17 1617 c.1518G>C c.(1516-1518)GTG>GTC p.V506V NM_032271 NP_115647 Q6Q0C0 TRAF7_HUMAN TNF receptor-associated factor 7 506 WD 3. activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex identical protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|lung(1)|breast(1) 3 GGGACATCGTGGGCACTGAGC 0.627 NA 15 128 0 0 0.004007 0 0 RRN3 54700 broad.mit.edu 37 16 15155638 15155638 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:15155638G>A uc002dde.2 - 18 1987 c.1919C>T c.(1918-1920)TCC>TTC p.S640F PDXDC1_uc002ddc.2_Intron|RRN3_uc010uzp.1_Missense_Mutation_p.S508F|RRN3_uc010uzq.1_Missense_Mutation_p.S610F NM_018427 NP_060897 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor 640 Interaction with EIF3L.|Interaction with TWISTNB. regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm ovary(1) 1 CACGGGTGGGGAGCCCACACT 0.517 NA 17 86 0 0 0.004007 0 0 KIAA0430 9665 broad.mit.edu 37 16 15696062 15696062 + Splice_Site SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:15696062T>C uc002ddr.2 - 23 4607 c.4414_splice c.e23-1 p.V1472_splice KIAA0430_uc002ddq.2_Splice_Site_p.V1306_splice|KIAA0430_uc010uzv.1_Splice_Site_p.V1468_splice|KIAA0430_uc010uzw.1_Splice_Site_p.V1471_splice NM_014647 NP_055462 Q9Y4F3 LKAP_HUMAN limkain b1 peroxisome nucleotide binding|RNA binding 0 AGTGAAAACCTGGTTAAAAAG 0.418 NA 6 152 0 0 0.001168 0 0 UBFD1 56061 broad.mit.edu 37 16 23573999 23573999 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:23573999A>T uc002dlv.2 + 5 886 c.684A>T c.(682-684)AAA>AAT p.K228N NM_019116 NP_061989 O14562 UBFD1_HUMAN ubiquitin-binding protein homolog 228 0 GBM - Glioblastoma multiforme(48;0.0331) CTGGAGGAAAAGTGAGACTCA 0.517 Melanoma(22;290 1069 22358 48158) NA 26 58 0 0 0.00632 0 0 PRKCB 5579 broad.mit.edu 37 16 24202456 24202456 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:24202456G>T uc002dmd.2 + 16 1965 c.1768G>T c.(1768-1770)GGC>TGC p.G590C PRKCB_uc002dme.2_Missense_Mutation_p.G590C NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 590 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TGGACCTGAAGGCGAACGTGA 0.433 NA 11 92 0.000978159 0.0010633 0.000978 1 0 TUFM 7284 broad.mit.edu 37 16 28856776 28856776 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:28856776C>T uc002drh.2 - 3 412 c.273G>A c.(271-273)AAG>AAA p.K91K uc010vct.1_Intron|SH2B1_uc002dri.2_5'Flank NM_003321 NP_003312 P49411 EFTU_HUMAN Tu translation elongation factor, mitochondrial 88 mitochondrial nucleoid GTP binding|GTPase activity|protein binding|translation elongation factor activity ovary(1) 1 ACTTCTTGAACTTAGCCCCAC 0.547 NA 12 95 0 0 0.001855 0 0 RNF40 9810 broad.mit.edu 37 16 30776581 30776581 + Nonsense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:30776581G>A uc002dzq.2 + 7 974 c.851G>A c.(850-852)TGG>TAG p.W284* RNF40_uc010caa.2_Nonsense_Mutation_p.W284*|RNF40_uc010cab.2_Nonsense_Mutation_p.W284*|RNF40_uc010vfa.1_Intron|RNF40_uc002dzr.2_Nonsense_Mutation_p.W284*|RNF40_uc010vfb.1_Intron|RNF40_uc010vfc.1_5'Flank NM_014771 NP_055586 O75150 BRE1B_HUMAN ring finger protein 40 284 Potential. histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process nucleus|synaptosome|ubiquitin ligase complex protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1) 1 Colorectal(24;0.198) GACTTGCAGTGGGACATCGAG 0.577 NA 4 72 0 0 0.009096 0 0 CYLD 1540 broad.mit.edu 37 16 50816329 50816329 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:50816329G>A uc002egp.1 + 11 2193 c.1778G>A c.(1777-1779)GGC>GAC p.G593D CYLD_uc002ego.2_Missense_Mutation_p.G590D|CYLD_uc010cbs.1_Missense_Mutation_p.G590D|CYLD_uc002egq.1_Missense_Mutation_p.G590D|CYLD_uc002egr.1_Missense_Mutation_p.G590D|CYLD_uc002egs.1_Missense_Mutation_p.G590D NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 593 Interaction with TRIP. cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3) 28 all_cancers(37;0.0156) AAGAAGAAAGGCATCCAGGGT 0.373 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 20 59 0 0 0.008871 0 0 SALL1 6299 broad.mit.edu 37 16 51174774 51174774 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:51174774G>A uc010vgs.1 - 2 1390 c.1359C>T c.(1357-1359)TTC>TTT p.F453F SALL1_uc010vgr.1_Silent_p.F356F|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 453 C2H2-type 1. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CCTTCGCGCAGAACCTGCACT 0.512 GBM(103;1352 1446 1855 4775 8890) NA 23 161 0 0 0.002299 0 0 CES1 1066 broad.mit.edu 37 16 55862795 55862795 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:55862795C>A uc002eim.2 - 2 249 c.141G>T c.(139-141)GTG>GTT p.V47V CES1_uc002eil.2_Silent_p.V48V|CES1_uc002ein.2_Silent_p.V47V NM_001025194 NP_001020365 P23141 EST1_HUMAN carboxylesterase 1 isoform b precursor 47 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) GGAAAATGGCCACAGGCTGTG 0.567 NSCLC(162;1801 2756 42904 52896) NA 21 79 4.63292e-17 7.13343e-17 0.008871 1 0 HYDIN 54768 broad.mit.edu 37 16 70867931 70867931 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:70867931C>T uc002ezr.2 - 79 13663 c.13535G>A c.(13534-13536)CGC>CAC p.R4512H HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 4513 ovary(1)|skin(1) 2 Ovarian(137;0.0654) GAAGAGGGGGCGCAGGAGCCC 0.557 NA 13 28 0 0 0.00499 0 0 CALB2 794 broad.mit.edu 37 16 71418734 71418734 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr16:71418734G>T uc002faa.3 + 9 692 c.622G>T c.(622-624)GAC>TAC p.D208Y CALB2_uc010vme.1_RNA|CALB2_uc002fac.3_Intron NM_001740 NP_001731 P22676 CALB2_HUMAN calbindin 2 isoform 1 208 5 (Probable).|EF-hand 5. calcium ion binding 0 Ovarian(137;0.125) CACATTTTACGACAAGGTAAG 0.493 NA 7 155 0.00307968 0.00329046 0.00308 1 0 ITGAE 3682 broad.mit.edu 37 17 3663536 3663536 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:3663536G>T uc002fwo.3 - 7 743 c.644C>A c.(643-645)CCC>CAC p.P215H NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 215 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) AAAGTCTGGGGGATCAATGCT 0.488 NSCLC(182;635 2928 8995 38788) NA 9 38 7.48243e-07 9.30337e-07 0.006214 1 0 CAMTA2 23125 broad.mit.edu 37 17 4884585 4884585 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:4884585A>G uc002gah.1 - 8 743 c.635T>C c.(634-636)ATT>ACT p.I212T CAMTA2_uc010cku.1_Missense_Mutation_p.I235T|CAMTA2_uc002gag.1_Missense_Mutation_p.I211T|CAMTA2_uc002gai.1_Missense_Mutation_p.I214T|CAMTA2_uc010ckv.1_5'Flank|CAMTA2_uc010vsu.1_Missense_Mutation_p.I25T NM_015099 NP_055914 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 212 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding ovary(1) 1 GGTGTCCAAAATCTGCTGCAC 0.547 NA OREG0024111 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 106 0 0 0.003163 0 0 TP53 7157 broad.mit.edu 37 17 7577108 7577108 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:7577108C>A uc002gim.2 - 8 1024 c.830G>T c.(829-831)TGT>TTT p.C277F TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.C277F|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C145F|TP53_uc010cng.1_Missense_Mutation_p.C145F|TP53_uc002gii.1_Missense_Mutation_p.C145F|TP53_uc010cnh.1_Missense_Mutation_p.C277F|TP53_uc010cni.1_Missense_Mutation_p.C277F|TP53_uc002gij.2_Missense_Mutation_p.C277F NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 277 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> W (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (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.C277F(20)|p.C277Y(15)|p.0?(7)|p.C277*(6)|p.C277G(4)|p.C277C(4)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.L265_K305del41(1)|p.C275_R283delCACPGRDRR(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.C277R(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275fs*20(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) TCTCCCAGGACAGGCACAAAC 0.547 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 13 37 5.50884e-06 6.55925e-06 0.001368 1 0 TP53 7157 broad.mit.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T rs28934578 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:7578406C>T uc002gim.2 - 5 718 c.524G>A c.(523-525)CGC>CAC p.R175H TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.2_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.1_Missense_Mutation_p.R136H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 175 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (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.R175H(729)|p.R175L(19)|p.R175C(12)|p.R175G(11)|p.0?(7)|p.R175P(5)|p.R175S(5)|p.R43H(5)|p.R82H(5)|p.R175R(4)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.R175fs*5(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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) GTGGGGGCAGCGCCTCACAAC 0.652 Pancreas(47;798 1329 9957 10801) R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(HCC1395_BREAST)|R175H(KLE_ENDOMETRIUM)|R175H(NCIH196_LUNG)|R175H(AU565_BREAST)|R175H(TYKNU_OVARY)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(SKUT1_SOFT_TISSUE)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(LS123_LARGE_INTESTINE)|R175H(SKBR3_BREAST)|R175H(RKN_OVARY)|R175H(HUCCT1_BILIARY_TRACT) 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) 12 62 0 0 0.000978 0 0 WDR16 146845 broad.mit.edu 37 17 9538752 9538752 + Nonsense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:9538752C>T uc002gly.2 + 11 1420 c.1351C>T c.(1351-1353)CAG>TAG p.Q451* WDR16_uc002glz.2_Nonsense_Mutation_p.Q383*|WDR16_uc010coc.2_Nonsense_Mutation_p.Q461* NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 451 WD 7. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CTGTCAGACCCAGAAGCTGGA 0.532 NA 7 90 0 0 0.00308 0 0 MYH4 4622 broad.mit.edu 37 17 10358324 10358324 + Missense_Mutation SNP G G A rs143572602 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:10358324G>A uc002gmn.2 - 21 2480 c.2369C>T c.(2368-2370)ACG>ATG p.T790M uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 790 IQ. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 TTGAGTGCGCGTGATGAGTTG 0.458 NA 6 77 0 0 0.001168 0 0 MYH3 4621 broad.mit.edu 37 17 10533474 10533474 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:10533474T>G uc002gmq.1 - 37 5574 c.5497A>C c.(5497-5499)AAG>CAG p.K1833Q NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1833 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCTGTGTTCTTCTTCTGCTCT 0.547 NA 23 376 0 0 0.004656 0 0 DRG2 1819 broad.mit.edu 37 17 18002385 18002385 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:18002385G>A uc002gsh.1 + 4 425 c.370G>A c.(370-372)GCC>ACC p.A124T DRG2_uc010vxg.1_Missense_Mutation_p.A124T|DRG2_uc002gsi.1_RNA|DRG2_uc002gsj.1_Missense_Mutation_p.A124T NM_001388 NP_001379 P55039 DRG2_HUMAN developmentally regulated GTP binding protein 2 124 G. signal transduction GTP binding ovary(1) 1 all_neural(463;0.228) TGAAGGCGCAGCCCAAGGTGG 0.547 NA 5 83 0 0 0.001168 0 0 ZNF286B 729288 broad.mit.edu 37 17 18566444 18566444 + Silent SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:18566444T>G uc010vyd.1 - 5 626 c.375A>C c.(373-375)TCA>TCC p.S125S NM_001145045 NP_001138517 P0CG31 Z286B_HUMAN zinc finger protein 286B 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AATCTTGCACTGAAGTTGAAT 0.413 NA 4 67 0 0 0.009096 0 0 MAPK7 5598 broad.mit.edu 37 17 19283155 19283155 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:19283155G>A uc002gvn.2 + 3 679 c.293G>A c.(292-294)CGG>CAG p.R98Q B9D1_uc010cqm.1_5'Flank|B9D1_uc002gvl.3_5'Flank|MAPK7_uc002gvo.2_Intron|MAPK7_uc002gvq.2_Missense_Mutation_p.R98Q|MAPK7_uc002gvp.2_Missense_Mutation_p.R98Q NM_139033 NP_620602 Q13164 MK07_HUMAN mitogen-activated protein kinase 7 isoform 1 98 Required for binding to MAP2K5 (By similarity).|Protein kinase. cell cycle|cell differentiation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding central_nervous_system(4)|lung(3)|stomach(1)|skin(1) 9 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) AATGCCAAGCGGACCCTCAGG 0.527 NA 9 140 0 0 0.008291 0 0 SARM1 23098 broad.mit.edu 37 17 26715397 26715397 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:26715397G>T uc010crl.1 + 10 1829 c.1762G>T c.(1762-1764)GGC>TGC p.G588C SARM1_uc010waj.1_RNA|SARM1_uc002hbe.1_Missense_Mutation_p.G132C NM_015077 NP_055892 Q6SZW1 SARM1_HUMAN sterile alpha and TIR motif containing 1 588 TIR. innate immune response cytoplasm|intrinsic to membrane binding|transmembrane receptor activity 0 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) GCAGCTGCATGGCTTCAGTGT 0.582 NA 14 53 9.05144e-12 1.28783e-11 0.001855 1 0 SUPT6H 6830 broad.mit.edu 37 17 27009765 27009766 + Missense_Mutation DNP GG GG TC TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:27009765_27009766GG>TC uc002hby.2 + 14 1708_1709 c.1618_1619GG>TC c.(1618-1620)GGG>TCG p.G540S SUPT6H_uc010crt.2_Missense_Mutation_p.G540S NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 540 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) CAAAAAGTTTGGGCTTACTCCC 0.53 NA 30 85 0 0 0.004672 0 0 SGCA 6442 broad.mit.edu 37 17 48245884 48245884 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:48245884T>A uc002iqi.2 + 5 571 c.535T>A c.(535-537)TTG>ATG p.L179M SGCA_uc010wmh.1_Missense_Mutation_p.L77M|SGCA_uc002iqj.2_Missense_Mutation_p.L179M|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 179 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 CACCTCTGCCTTGGACCGTGG 0.622 NA 6 9 0 0 0.001168 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917075 48917076 + Missense_Mutation DNP CA CA AG TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:48917075_48917076CA>AG uc002isv.3 + 2 1120_1121 c.426_427CA>AG c.(424-429)CCCAGC>CCAGGC p.S143G WFIKKN2_uc010dbu.2_Missense_Mutation_p.S50G NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN WFIKKN2 protein 143 Kazal-like. extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) AGAAGGAGCCCAGCTTTACCTG 0.584 NA 10 42 0 0 0.004672 0 0 SEPT4 5414 broad.mit.edu 37 17 56598633 56598633 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:56598633G>A uc002iwm.1 - 9 1224 c.1096C>T c.(1096-1098)CCC>TCC p.P366S SEPT4_uc002iwk.1_Missense_Mutation_p.P219S|SEPT4_uc010wnw.1_Missense_Mutation_p.P219S|SEPT4_uc002iwl.1_Missense_Mutation_p.P219S|SEPT4_uc002iwn.1_Missense_Mutation_p.P267S|SEPT4_uc002iwo.1_Missense_Mutation_p.P347S|SEPT4_uc002iwp.1_3'UTR|SEPT4_uc010wnx.1_Missense_Mutation_p.P381S|SEPT4_uc010wny.1_Missense_Mutation_p.P358S|SEPT4_uc010dcy.1_3'UTR NM_004574 NP_004565 O43236 SEPT4_HUMAN septin 4 isoform 1 366 apoptosis|cell cycle|cytokinesis|regulation of apoptosis cytoskeleton|mitochondrion|nucleus GTP binding|GTPase activity|protein binding|structural molecule activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) ATGCCCCAGGGGTAGAGTCGA 0.587 NA OREG0024614 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 73 0 0 0.00333 0 0 C17orf47 284083 broad.mit.edu 37 17 56620571 56620571 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:56620571C>A uc002iwq.1 - 1 1113 c.977G>T c.(976-978)CGA>CTA p.R326L SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 326 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTGTTTCCTCGGATTGGGGT 0.542 NA 19 55 1.33834e-09 1.8124e-09 0.007413 1 0 TEX14 56155 broad.mit.edu 37 17 56688569 56688569 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:56688569G>T uc010dcz.1 - 10 1273 c.1155C>A c.(1153-1155)ATC>ATA p.I385I TEX14_uc002iwr.1_Silent_p.I379I|TEX14_uc002iws.1_Silent_p.I379I|TEX14_uc010dda.1_Silent_p.I159I NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 385 Protein kinase. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) CACCTGGGGAGATGATATGGA 0.527 NA 43 157 3.54561e-26 6.0019e-26 0.009718 1 0 RAD51C 5889 broad.mit.edu 37 17 56774181 56774181 + Nonsense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:56774181C>T uc002iwu.2 + 3 574 c.532C>T c.(532-534)CAG>TAG p.Q178* RAD51C_uc010woa.1_Nonsense_Mutation_p.Q178*|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_Intron|RAD51C_uc002iww.2_Intron|RAD51C_uc010wob.1_RNA NM_058216 NP_478123 O43502 RA51C_HUMAN RAD51 homolog C isoform 1 178 blood coagulation|DNA repair mitochondrion|nucleoplasm|perinuclear region of cytoplasm ATP binding|DNA binding|DNA-dependent ATPase activity 0 Medulloblastoma(34;0.127)|all_neural(34;0.237) TGCCTGCATTCAGCACCTTCA 0.388 NA Homologous_recombination Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2 13 112 0 0 0.003163 0 0 PRKCA 5578 broad.mit.edu 37 17 64728940 64728940 + Silent SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:64728940A>G uc002jfp.1 + 9 1097 c.1053A>G c.(1051-1053)GGA>GGG p.G351G PRKCA_uc002jfo.1_Silent_p.G222G NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 351 ATP (By similarity).|Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGAGTTTTGGAAAGGTAAGAG 0.453 NA 40 141 0 0 0.006999 0 0 SDK2 54549 broad.mit.edu 37 17 71394502 71394502 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:71394502G>T uc010dfm.2 - 23 3160 c.3160C>A c.(3160-3162)CGC>AGC p.R1054S SDK2_uc002jjt.3_Missense_Mutation_p.R213S|SDK2_uc010dfn.2_Missense_Mutation_p.R733S NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 1054 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion integral to membrane ovary(2) 2 TCCATGGAGCGGGCATCGGGC 0.642 NA 27 92 1.12875e-08 1.49613e-08 0.00632 1 0 FDXR 2232 broad.mit.edu 37 17 72859251 72859251 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:72859251G>A uc002jly.2 - 11 1379 c.1292C>T c.(1291-1293)CCC>CTC p.P431L GRIN2C_uc002jlu.1_5'Flank|GRIN2C_uc002jlv.1_5'Flank|FDXR_uc010wri.1_Missense_Mutation_p.P379L|FDXR_uc010wrj.1_Missense_Mutation_p.P429L|FDXR_uc002jlw.2_Missense_Mutation_p.P188L|FDXR_uc002jlx.2_Missense_Mutation_p.P437L|FDXR_uc002jmc.2_Missense_Mutation_p.P403L|FDXR_uc010wrk.1_Missense_Mutation_p.P462L|FDXR_uc010wrl.1_Missense_Mutation_p.P474L|FDXR_uc002jma.2_Missense_Mutation_p.P432L|FDXR_uc010wrm.1_Missense_Mutation_p.P391L|FDXR_uc002jlz.2_Missense_Mutation_p.P423L|FDXR_uc002jmb.2_RNA NM_024417 NP_077728 P22570 ADRO_HUMAN ferredoxin reductase isoform 1 precursor 431 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding 0 all_lung(278;0.172)|Lung NSC(278;0.207) GGGGCCAGAGGGGAGCAACCC 0.647 NA 7 25 0 0 0.001984 0 0 FBF1 85302 broad.mit.edu 37 17 73910944 73910944 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:73910944C>A uc002jqc.2 - 24 2927 c.2653G>T c.(2653-2655)GAG>TAG p.E885* FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Nonsense_Mutation_p.E876*|FBF1_uc002jqb.2_RNA|FBF1_uc010dgr.1_Nonsense_Mutation_p.E196* NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 885 0 TCCGCCCACTCGGCAGCCAGG 0.687 NA 4 24 0.00024832 0.000275802 0.009096 1 0 SEC14L1 6397 broad.mit.edu 37 17 75208256 75208256 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:75208256G>T uc002jto.2 + 15 2103 c.1836G>T c.(1834-1836)CTG>CTT p.L612L SEC14L1_uc010dhc.2_Silent_p.L612L|SEC14L1_uc010wth.1_Silent_p.L612L|SEC14L1_uc002jtm.2_Silent_p.L612L|SEC14L1_uc010wti.1_Silent_p.L578L|SEC14L1_uc010wtj.1_Missense_Mutation_p.D101Y|SEC14L1_uc002jtr.2_Silent_p.L6L NM_003003 NP_002994 Q92503 S14L1_HUMAN SEC14 (S. cerevisiae)-like 1 isoform a 612 GOLD. transport Golgi apparatus|integral to membrane binding ovary(2) 2 AGTCGCCTCTGATCTGCAAAG 0.552 NA 64 192 4.83677e-39 8.33824e-39 0.00361 1 0 NARF 26502 broad.mit.edu 37 17 80445829 80445829 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr17:80445829C>A uc002kfg.3 + 11 1307 c.1167C>A c.(1165-1167)GAC>GAA p.D389E NARF_uc002kff.3_Missense_Mutation_p.D330E|NARF_uc010dit.2_Missense_Mutation_p.D435E|NARF_uc002kfj.3_Missense_Mutation_p.D341E|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Missense_Mutation_p.D435E|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 389 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) AGACTCCAGACGGACATGCGG 0.453 NA 5 93 0.00116845 0.00125798 0.001168 1 0 ZNF271 10778 broad.mit.edu 37 18 32887072 32887072 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr18:32887072G>C uc002kyq.3 + 3 1476 c.484G>C c.(484-486)GAG>CAG p.E162Q ZNF271_uc002kyp.3_Missense_Mutation_p.E162Q|ZNF271_uc002kyr.3_Missense_Mutation_p.E162Q NR_024565 SubName: Full=cDNA FLJ13394 fis, clone PLACE1001304, highly similar to Homo sapiens zinc finger protein 271 (ZNF271), mRNA; 0 ATCCACACTGGAGAGAAACCT 0.398 NA 16 104 0 0 0.00499 0 0 FHOD3 80206 broad.mit.edu 37 18 34298456 34298456 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr18:34298456G>T uc002kzt.1 + 15 2716 c.2619G>T c.(2617-2619)CAG>CAT p.Q873H FHOD3_uc002kzs.1_Missense_Mutation_p.Q890H|FHOD3_uc010dmz.1_Missense_Mutation_p.Q605H|FHOD3_uc010dna.1_Missense_Mutation_p.Q193H NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 873 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) ACGCTCCTCAGGGCTTAGGGT 0.567 NA 15 60 2.61681e-11 3.67662e-11 0.00245 1 0 FHOD3 80206 broad.mit.edu 37 18 34324019 34324019 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr18:34324019C>A uc002kzt.1 + 19 3425 c.3328C>A c.(3328-3330)CTC>ATC p.L1110I FHOD3_uc002kzs.1_Missense_Mutation_p.L1127I|FHOD3_uc010dmz.1_Missense_Mutation_p.L842I|FHOD3_uc010dnb.1_Missense_Mutation_p.L106I NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1110 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) GTTAAGCTACCTCGAGAAGGT 0.453 NA 54 115 3.76997e-23 6.21326e-23 0.00361 1 0 RNF152 220441 broad.mit.edu 37 18 59483224 59483224 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr18:59483224C>T uc002lih.1 - 2 885 c.473G>A c.(472-474)CGG>CAG p.R158Q NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 158 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) CACCACGCCCCGCCTGTCCTG 0.622 NA 26 47 0 0 0.00632 0 0 SGTA 6449 broad.mit.edu 37 19 2762622 2762622 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:2762622T>C uc002lwi.1 - 7 665 c.518A>G c.(517-519)AAC>AGC p.N173S NM_003021 NP_003012 O43765 SGTA_HUMAN small glutamine-rich tetratricopeptide 173 TPR 3. interspecies interaction between organisms cytoplasm protein binding ovary(1) 1 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) CACGTGCTTGTTGAGGCTGGA 0.627 NA 24 181 0 0 0.00333 0 0 ZNF556 80032 broad.mit.edu 37 19 2877918 2877918 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:2877918G>A uc002lwp.1 + 4 1049 c.962G>A c.(961-963)GGG>GAG p.G321E ZNF556_uc002lwq.2_Missense_Mutation_p.G320E NM_024967 NP_079243 Q9HAH1 ZN556_HUMAN zinc finger protein 556 321 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(3) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAAAATGCGGGAAAGCATTC 0.522 NA 16 55 0 0 0.003163 0 0 ZNF77 58492 broad.mit.edu 37 19 2934603 2934603 + Silent SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:2934603G>C uc002lws.3 - 4 653 c.522C>G c.(520-522)CTC>CTG p.L174L NM_021217 NP_067040 Q15935 ZNF77_HUMAN zinc finger protein 77 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus 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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) TTTGGCAGGAGAGGCAGCTGC 0.517 NA 6 208 0 0 0.001984 0 0 RANBP3 8498 broad.mit.edu 37 19 5918634 5918634 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:5918634C>T uc002mdw.2 - 15 1573 c.1346G>A c.(1345-1347)GGG>GAG p.G449E RANBP3_uc002mdv.2_Missense_Mutation_p.G168E|RANBP3_uc002mdx.2_Missense_Mutation_p.G444E|RANBP3_uc002mdy.2_Missense_Mutation_p.G381E|RANBP3_uc002mdz.2_Missense_Mutation_p.G376E|RANBP3_uc010duq.2_Missense_Mutation_p.G354E|RANBP3_uc002mea.2_Missense_Mutation_p.G316E|RANBP3_uc010xix.1_Missense_Mutation_p.G321E NM_007322 NP_015561 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 isoform RANBP3-d 449 RanBD1. intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1) 1 TCGCAGGCTCCCCTGGGTCCG 0.607 NA 13 102 0 0 0.001368 0 0 VAV1 7409 broad.mit.edu 37 19 6825072 6825072 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:6825072G>C uc002mfu.1 + 7 760 c.663G>C c.(661-663)TTG>TTC p.L221F VAV1_uc010xjh.1_Missense_Mutation_p.L189F|VAV1_uc010dva.1_Missense_Mutation_p.L221F|VAV1_uc002mfv.1_Missense_Mutation_p.L166F NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor 221 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 AGCATTTCTTGAAGCCCCTGC 0.433 NA 50 160 0 0 0.00361 0 0 LASS4 79603 broad.mit.edu 37 19 8320764 8320764 + Splice_Site SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:8320764G>A uc002mjg.2 + 6 788 c.468_splice c.e6+1 p.H156_splice LASS4_uc002mjh.2_Splice_Site_p.H105_splice|LASS4_uc002mji.2_Splice_Site|LASS4_uc010dvz.2_Splice_Site_p.H156_splice NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 CCTGTACCACGTGAGTATACC 0.587 NA 4 72 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9047244 9047244 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:9047244G>T uc002mkp.2 - 5 34591 c.34387C>A c.(34387-34389)CTG>ATG p.L11463M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11465 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 CTGATGACCAGTGAGGTCAGC 0.493 NA 59 162 1.16596e-39 2.02243e-39 0.00361 1 0 MUC16 94025 broad.mit.edu 37 19 9091786 9091786 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:9091786G>T uc002mkp.2 - 1 233 c.29C>A c.(28-30)TCA>TAA p.S10* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 10 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 GGGAGAAGATGACCCAGGAAG 0.547 NA 4 41 1.23904e-05 1.45374e-05 0.000602 1 0 FARSA 2193 broad.mit.edu 37 19 13041475 13041475 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:13041475C>A uc002mvs.2 - 2 284 c.236G>T c.(235-237)CGT>CTT p.R79L FARSA_uc002mvt.2_RNA|FARSA_uc010xmv.1_Missense_Mutation_p.R79L|FARSA_uc010dyy.1_Intron NM_004461 NP_004452 Q9Y285 SYFA_HUMAN phenylalanyl-tRNA synthetase, alpha subunit 79 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding ovary(1) 1 L-Phenylalanine(DB00120) TCGAAACACACGGGCCTCATG 0.612 NA 26 44 4.47668e-21 7.12718e-21 0.003954 1 0 CPAMD8 27151 broad.mit.edu 37 19 17057956 17057956 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:17057956C>A uc002nfb.2 - 21 2763 c.2731G>T c.(2731-2733)GTG>TTG p.V911L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 864 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CCGGGGGCCACACACATCTTC 0.587 NA 41 153 1.15505e-17 1.7932e-17 0.009718 1 0 CILP2 148113 broad.mit.edu 37 19 19654969 19654969 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:19654969C>T uc002nmv.3 + 8 1700 c.1615C>T c.(1615-1617)CCT>TCT p.P539S CILP2_uc002nmw.3_Missense_Mutation_p.P545S NM_153221 NP_694953 Q8IUL8 CILP2_HUMAN cartilage intermediate layer protein 2 539 proteinaceous extracellular matrix carbohydrate binding|carboxypeptidase activity ovary(1) 1 CCGGGTCTTGCCTTTTGATCC 0.602 NA 18 62 0 0 0.006122 0 0 LOC284441 284441 broad.mit.edu 37 19 20369153 20369153 + Translation_Start_Site SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:20369153G>T uc002nov.2 + 1 697 c.-54G>T c.(-56--52)TAGGG>TATGG NR_003128 SubName: Full=cDNA FLJ51655, highly similar to Actin-like protein 2; 0 taactcgctagggtacaacaA 0.169 NA 6 63 0.00116845 0.00125798 0.001168 1 0 ZNF208 7757 broad.mit.edu 37 19 22154156 22154156 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:22154156C>A uc002nqp.2 - 6 3445 c.3296G>T c.(3295-3297)TGT>TTT p.C1099F ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTCTTCACATTTGTAGGG 0.388 NA 5 88 1.23904e-05 1.45374e-05 0.000602 1 0 ZNF208 7757 broad.mit.edu 37 19 22155846 22155846 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:22155846G>T uc002nqp.2 - 5 1839 c.1690C>A c.(1690-1692)CCC>ACC p.P564T ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) CATTTGTAGGGCTTCTCTCCA 0.383 NA 11 112 0.000219431 0.000245658 0.00245 1 0 RYR1 6261 broad.mit.edu 37 19 38948237 38948237 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:38948237T>A uc002oit.2 + 17 2022 c.1892T>A c.(1891-1893)CTG>CAG p.L631Q RYR1_uc002oiu.2_Missense_Mutation_p.L631Q NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 631 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CGTGAGCTTCTGCTGCAGACA 0.522 NA 54 116 0 0 0.00361 0 0 RYR1 6261 broad.mit.edu 37 19 38991553 38991553 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:38991553G>C uc002oit.2 + 47 7667 c.7537G>C c.(7537-7539)GAG>CAG p.E2513Q RYR1_uc002oiu.2_Missense_Mutation_p.E2513Q|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2513 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GTATGGCATCGAGAACCAGGA 0.632 NA 14 33 0 0 0.001855 0 0 ZNF180 7733 broad.mit.edu 37 19 44981270 44981270 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:44981270C>G uc002ozf.3 - 5 1710 c.1428G>C c.(1426-1428)CAG>CAC p.Q476H ZNF180_uc002ozh.3_Missense_Mutation_p.Q133H|ZNF180_uc002ozi.3_Missense_Mutation_p.Q449H|ZNF180_uc002ozg.3_Missense_Mutation_p.Q475H|ZNF180_uc010ejm.2_Missense_Mutation_p.Q451H NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN zinc finger protein 180 476 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) GTTTATAGCTCTGGATAAATG 0.363 Esophageal Squamous(180;1353 2003 32862 46574 49854) NA 9 110 0 0 0.004482 0 0 STRN4 29888 broad.mit.edu 37 19 47223906 47223906 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:47223906G>T uc002pfl.2 - 17 2248 c.2215C>A c.(2215-2217)CTC>ATC p.L739I STRN4_uc002pfm.2_Missense_Mutation_p.L746I|STRN4_uc010xyf.1_RNA NM_013403 NP_037535 Q9NRL3 STRN4_HUMAN zinedin isoform 1 739 WD 7. cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding 0 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CTGGCAATGAGGGCCTTGCTG 0.667 NA 4 46 0.00116845 0.00125798 0.001168 1 0 SULT2B1 6820 broad.mit.edu 37 19 49100065 49100065 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:49100065T>G uc002pjl.2 + 6 796 c.715T>G c.(715-717)TCC>GCC p.S239A SULT2B1_uc002pjm.2_Missense_Mutation_p.S224A NM_177973 NP_814444 O00204 ST2B1_HUMAN sulfotransferase family, cytosolic, 2B, member 1 239 PAPS. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity skin(1) 1 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178) GGCACTGGGCTCCGTCGTGGC 0.667 NA 5 29 0 0 0.000602 0 0 FTL 2512 broad.mit.edu 37 19 49469978 49469978 + Missense_Mutation SNP C C G rs1803580 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:49469978C>G uc002plo.2 + 4 713 c.514C>G c.(514-516)CTC>GTC p.L172V FTL_uc002pln.1_3'UTR NM_000146 NP_000137 P02792 FRIL_HUMAN ferritin, light polypeptide 172 cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity 0 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) AAGGCTCACTCTCAAGCACGA 0.567 NA 4 107 0 0 0.009096 0 0 GPR32 2854 broad.mit.edu 37 19 51274893 51274893 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:51274893T>C uc010ycf.1 + 1 1036 c.1036T>C c.(1036-1038)TCA>CCA p.S346P NM_001506 NP_001497 O75388 GPR32_HUMAN G protein-coupled receptor 32 346 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) GGAGTTTCTGTCATCCTGTCC 0.537 Esophageal Squamous(113;152 1581 5732 15840 44398) NA 13 113 0 0 0.001855 0 0 ZNF578 147660 broad.mit.edu 37 19 53014138 53014138 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:53014138C>G uc002pzp.3 + 6 748 c.504C>G c.(502-504)CAC>CAG p.H168Q NM_001099694 NP_001093164 Q96N58 ZN578_HUMAN zinc finger protein 578 84 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) CTGAACTCCACATATTTCAGC 0.413 NA 10 227 0 0 0.006214 0 0 ZNF347 84671 broad.mit.edu 37 19 53643854 53643854 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:53643854C>G uc002qbb.1 - 5 2296 c.2227G>C c.(2227-2229)GGG>CGG p.G743R ZNF347_uc010eql.1_Missense_Mutation_p.G744R|ZNF347_uc002qbc.1_Missense_Mutation_p.G744R NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 743 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AAGACCTTCCCACACTCATTG 0.433 Melanoma(64;205 1597 17324 45721) NA 40 158 0 0 0.007835 0 0 ZNF665 79788 broad.mit.edu 37 19 53668345 53668345 + Silent SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:53668345G>C uc010eqm.1 - 4 1498 c.1398C>G c.(1396-1398)GTC>GTG p.V466V NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 401 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) TTTGTGTGAAGACCTTACCGC 0.428 NA 5 100 0 0 0.000602 0 0 LILRB4 11006 broad.mit.edu 37 19 55177363 55177363 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:55177363G>T uc002qgp.2 + 7 1217 c.855G>T c.(853-855)CAG>CAT p.Q285H LILRB4_uc002qgq.2_Missense_Mutation_p.Q285H|LILRB4_uc002qgr.2_Missense_Mutation_p.Q326H|LILRB4_uc010ert.2_Missense_Mutation_p.Q326H|LILRB4_uc010eru.2_Missense_Mutation_p.Q314H NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 285 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) ACTGGCGTCAGGGAAAACACA 0.473 NA 5 64 4.096e-09 5.50706e-09 0.001168 1 0 LILRB4 11006 broad.mit.edu 37 19 55179179 55179179 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:55179179C>T uc002qgp.2 + 11 1497 c.1135C>T c.(1135-1137)CTG>TTG p.L379L LILRB4_uc002qgq.2_Silent_p.L378L|LILRB4_uc002qgr.2_Silent_p.L421L|LILRB4_uc010ert.2_Silent_p.L420L|LILRB4_uc010eru.2_Silent_p.L409L NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN leukocyte immunoglobulin-like receptor, 379 Cytoplasmic (Potential). integral to membrane|plasma membrane antigen binding|receptor activity ovary(3) 3 GBM - Glioblastoma multiforme(193;0.035) TCCCTCCCCACTGTCTGGGGA 0.582 NA 25 41 0 0 0.003954 0 0 FCAR 2204 broad.mit.edu 37 19 55401199 55401199 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:55401199C>T uc002qhr.1 + 5 1031 c.834C>T c.(832-834)ACC>ACT p.T278T FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.T229T|FCAR_uc010esi.1_Silent_p.T155T|FCAR_uc002qhu.1_Silent_p.T182T|FCAR_uc002qhv.1_Silent_p.T256T|FCAR_uc002qhw.1_Silent_p.T266T|FCAR_uc002qhx.1_Silent_p.T170T|FCAR_uc002qhy.1_Silent_p.T244T|FCAR_uc002qhz.1_3'UTR|FCAR_uc002qia.1_Silent_p.T169T NM_002000 NP_001991 P24071 FCAR_HUMAN Fc alpha receptor isoform a precursor 278 Cytoplasmic (Potential). immune response extracellular region|integral to plasma membrane IgA binding|receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(193;0.0443) CAGGATTGACCTTTGCACGAA 0.527 NA 13 125 0 0 0.001368 0 0 NLRP5 126206 broad.mit.edu 37 19 56538820 56538820 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:56538820C>A uc002qmj.2 + 7 1221 c.1221C>A c.(1219-1221)GTC>GTA p.V407V NLRP5_uc002qmi.2_Silent_p.V388V NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 407 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCCTGATCGTCACCGTCAGAG 0.547 NA 9 24 5.4927e-09 7.3323e-09 0.004482 1 0 USP29 57663 broad.mit.edu 37 19 57641161 57641161 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:57641161C>A uc002qny.2 + 4 1474 c.1118C>A c.(1117-1119)GCT>GAT p.A373D NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 373 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) CAGAATGATGCTCATGAGTTT 0.353 NA 12 77 7.93312e-07 9.77722e-07 0.00245 1 0 USP29 57663 broad.mit.edu 37 19 57641213 57641213 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:57641213A>C uc002qny.2 + 4 1526 c.1170A>C c.(1168-1170)AAA>AAC p.K390N NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 390 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) ACATGGAAAAATTAAATGCCA 0.398 NA 17 76 0 0 0.007413 0 0 ZNF17 7565 broad.mit.edu 37 19 57931586 57931586 + Silent SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:57931586A>T uc002qoo.1 + 3 957 c.726A>T c.(724-726)GGA>GGT p.G242G ZNF547_uc002qpm.3_Intron|ZNF17_uc002qop.1_Silent_p.G244G NM_006959 NP_008890 P17021 ZNF17_HUMAN zinc finger protein 17 242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) ATCATACTGGAGAAAGGCCTT 0.403 Melanoma(149;1637 1853 29914 42869 44988) NA 22 44 0 0 0.010504 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58564911 58564911 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:58564911G>T uc002qrc.1 + 6 966 c.719G>T c.(718-720)GGT>GTT p.G240V NM_182572 NP_872378 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 240 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) AGCCCCAAGGGTCCAAGTGCT 0.602 NA 20 37 2.54575e-18 3.9964e-18 0.010504 1 0 TPO 7173 broad.mit.edu 37 2 1499813 1499813 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:1499813G>T uc002qww.2 + 12 2150 c.2059G>T c.(2059-2061)GAG>TAG p.E687* TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Nonsense_Mutation_p.E630*|TPO_uc002qwr.2_Nonsense_Mutation_p.E687*|TPO_uc002qwx.2_Nonsense_Mutation_p.E630*|TPO_uc010yio.1_Nonsense_Mutation_p.E514*|TPO_uc010yip.1_Nonsense_Mutation_p.E687*|TPO_uc002qwy.1_Nonsense_Mutation_p.E27*|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 687 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCGTGAGCTGGAGAAGCACTC 0.562 NA 11 22 2.68362e-12 3.90724e-12 0.001368 1 0 NBAS 51594 broad.mit.edu 37 2 15417165 15417165 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:15417165C>A uc002rcc.1 - 43 5225 c.5199G>T c.(5197-5199)AAG>AAT p.K1733N NBAS_uc010exl.1_Missense_Mutation_p.K805N|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1733 ovary(2)|liver(1)|skin(1) 4 CTGGATCAGTCTTCAAAGTCT 0.393 NA 5 72 0.000602214 0.000658452 0.000602 1 0 NBAS 51594 broad.mit.edu 37 2 15567913 15567913 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:15567913T>C uc002rcc.1 - 22 2371 c.2345A>G c.(2344-2346)AAC>AGC p.N782S NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 782 ovary(2)|liver(1)|skin(1) 4 GGAGTCACCGTTAAAACTCAA 0.393 NA 5 43 0 0 0.000602 0 0 NCOA1 8648 broad.mit.edu 37 2 24933898 24933898 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:24933898G>A uc002rfk.2 + 12 2775 c.2517G>A c.(2515-2517)GCG>GCA p.A839A NCOA1_uc010eye.2_Silent_p.A839A|NCOA1_uc002rfi.2_Silent_p.A688A|NCOA1_uc002rfj.2_Silent_p.A839A|NCOA1_uc002rfl.2_Silent_p.A839A NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 839 Interaction with CREBBP. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGGATGGTGCGGTCACCAGTG 0.522 NA T PAX3 alveolar rhadomyosarcoma 22 38 0 0 0.001882 0 0 C2orf70 339778 broad.mit.edu 37 2 26798827 26798827 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:26798827C>A uc010eyn.2 + 2 132 c.132C>A c.(130-132)ACC>ACA p.T44T NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN hypothetical protein LOC339778 44 skin(1) 1 ACGGCACCACCACCCTCAAGT 0.617 NA 13 89 4.3838e-07 5.52398e-07 0.001855 1 0 ZNF513 130557 broad.mit.edu 37 2 27600625 27600625 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:27600625G>A uc002rkk.2 - 4 1613 c.1413C>T c.(1411-1413)CCC>CCT p.P471P ZNF513_uc002rkj.2_Silent_p.P409P NM_144631 NP_653232 Q8N8E2 ZN513_HUMAN zinc finger protein 513 471 regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception nucleus transcription regulatory region DNA binding|zinc ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACAGCGGAAGGGCTTCTCGC 0.592 NA 69 147 0 0 0.00361 0 0 C2orf16 84226 broad.mit.edu 37 2 27801985 27801985 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:27801985G>A uc002rkz.3 + 1 2597 c.2546G>A c.(2545-2547)CGA>CAA p.R849Q NM_032266 NP_115642 Q68DN1 CB016_HUMAN hypothetical protein LOC84226 849 large_intestine(1) 1 Acute lymphoblastic leukemia(172;0.155) TGGAGATCACGATCTAGGACA 0.478 NA 5 123 0 0 0.000602 0 0 TRMT61B 55006 broad.mit.edu 37 2 29092772 29092772 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:29092772C>A uc002rmm.2 - 1 404 c.372G>T c.(370-372)ATG>ATT p.M124I TRMT61B_uc002rmn.2_Missense_Mutation_p.M124I|TRMT61B_uc010ezk.2_RNA NM_017910 NP_060380 Q9BVS5 TR61B_HUMAN tRNA methyltransferase 61 homolog B 124 tRNA (adenine-N1-)-methyltransferase activity 0 CCTGCGAGAGCATCGAAGGAT 0.617 NA 24 47 1.64293e-13 2.42343e-13 0.00333 1 0 LTBP1 4052 broad.mit.edu 37 2 33525618 33525618 + Silent SNP G G A rs139837372 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:33525618G>A uc002ros.2 + 21 3339 c.3339G>A c.(3337-3339)TCG>TCA p.S1113S LTBP1_uc002rot.2_Silent_p.S787S|LTBP1_uc002rou.2_Silent_p.S786S|LTBP1_uc002rov.2_Silent_p.S733S|LTBP1_uc010ymz.1_Silent_p.S786S|LTBP1_uc010yna.1_Silent_p.S733S|LTBP1_uc010ynb.1_Silent_p.S52S NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1112 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) ACCAGCTGTCGGCAGCTAAAG 0.468 NA 9 61 0 0 0.006214 0 0 TTC7A 57217 broad.mit.edu 37 2 47251456 47251456 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:47251456G>T uc002rvo.2 + 14 1967 c.1599G>T c.(1597-1599)CAG>CAT p.Q533H TTC7A_uc002rvm.2_Missense_Mutation_p.Q499H|TTC7A_uc002rvn.1_Missense_Mutation_p.Q414H|TTC7A_uc010fbb.2_Missense_Mutation_p.Q533H|TTC7A_uc010fbc.2_Missense_Mutation_p.Q179H|TTC7A_uc002rvp.2_Missense_Mutation_p.Q414H|TTC7A_uc002rvq.2_Missense_Mutation_p.Q273H|TTC7A_uc002rvr.2_Translation_Start_Site NM_020458 NP_065191 Q9ULT0 TTC7A_HUMAN tetratricopeptide repeat domain 7A 533 TPR 5. binding breast(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114) GTGACCCCCAGGTCATCCTCT 0.642 NA 13 26 7.93312e-07 9.77722e-07 0.00245 1 0 STARD7 56910 broad.mit.edu 37 2 96860740 96860740 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:96860740C>G uc002svm.3 - 3 906 c.505G>C c.(505-507)GGA>CGA p.G169R STARD7_uc002svl.2_5'UTR NM_020151 NP_064536 Q9NQZ5 STAR7_HUMAN START domain containing 7 precursor 169 START. mitochondrion 0 GTGTAGGTTCCAAAAACTAGA 0.423 NA 7 14 0 0 0.00308 0 0 AFF3 3899 broad.mit.edu 37 2 100623335 100623335 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:100623335T>G uc002tag.2 - 6 868 c.632A>C c.(631-633)CAC>CCC p.H211P AFF3_uc002taf.2_Missense_Mutation_p.H236P|AFF3_uc010fiq.1_Missense_Mutation_p.H211P|AFF3_uc010yvr.1_Missense_Mutation_p.H365P|AFF3_uc002tah.1_Missense_Mutation_p.H236P|AFF3_uc010fir.1_Missense_Mutation_p.H288P|AFF3_uc002tai.2_Missense_Mutation_p.H133P NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 211 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CTGAACACAGTGTCCGCTGCT 0.597 NA 5 132 0 0 0.001168 0 0 NPAS2 4862 broad.mit.edu 37 2 101604708 101604708 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:101604708G>T uc002tap.1 + 17 2083 c.1797G>T c.(1795-1797)CTG>CTT p.L599L NPAS2_uc010yvt.1_Silent_p.L664L|NPAS2_uc010fit.1_Intron NM_002518 NP_002509 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 599 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(3)|upper_aerodigestive_tract(1) 4 GCCAGCACCTGCTCAGAGAAT 0.567 NA 4 108 0.00024832 0.000275802 0.009096 1 0 GPR45 11250 broad.mit.edu 37 2 105859317 105859317 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:105859317C>A uc002tco.1 + 1 1118 c.1002C>A c.(1000-1002)GCC>GCA p.A334A NM_007227 NP_009158 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 334 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 TCCGCGAGGCCTGCATAGAGT 0.542 NA 13 115 0.00010058 0.000113506 0.001368 1 0 ST6GAL2 84620 broad.mit.edu 37 2 107460416 107460416 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:107460416C>A uc002tdq.2 - 2 137 c.18G>T c.(16-18)AAG>AAT p.K6N ST6GAL2_uc002tdr.2_Missense_Mutation_p.K6N|ST6GAL2_uc002tds.3_Missense_Mutation_p.K6N NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 6 Cytoplasmic (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 GTCTCCATTGCTTCAAGTGTG 0.493 NA 30 52 5.77227e-19 9.08688e-19 0.008361 1 0 RGPD4 285190 broad.mit.edu 37 2 108489238 108489238 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:108489238C>G uc010ywk.1 + 20 4860 c.4778C>G c.(4777-4779)TCT>TGT p.S1593C RGPD4_uc002tdu.2_Missense_Mutation_p.S780C|RGPD4_uc010ywl.1_RNA NM_182588 NP_872394 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1593 intracellular transport binding skin(2) 2 CAGAGTGGATCTGAAAGCAAA 0.383 NA 16 492 0 0 0.006122 0 0 IL1F7 27178 broad.mit.edu 37 2 113671403 113671403 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:113671403C>A uc002tij.2 + 2 159 c.117C>A c.(115-117)AGC>AGA p.S39R IL1F7_uc002tik.2_Intron|IL1F7_uc002til.2_Missense_Mutation_p.S39R|IL1F7_uc002tim.2_Intron|IL1F7_uc002tin.2_5'Flank NM_014439 NP_055254 Q9NZH6 IL37_HUMAN interleukin 1 family, member 7 isoform 1 39 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding 0 CAGGCCCAAGCCTCCCCACCA 0.567 NA 5 47 0.000602214 0.000658452 0.000602 1 0 CNTNAP5 129684 broad.mit.edu 37 2 125521656 125521656 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:125521656C>A uc002tno.2 + 16 2826 c.2462C>A c.(2461-2463)ACC>AAC p.T821N CNTNAP5_uc010flu.2_Missense_Mutation_p.T822N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 821 Laminin G-like 3.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TTTTTTAAAACCACAGCATTA 0.398 NA 6 179 5.9392e-07 7.45051e-07 0.001168 1 0 TUBA3D 113457 broad.mit.edu 37 2 132235910 132235910 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:132235910C>A uc002tsu.3 + 2 284 c.177C>A c.(175-177)GGC>GGA p.G59G NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 59 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) CTGGAGCTGGCAAGCACGTGC 0.562 Ovarian(137;2059 2432 35543 39401) NA 33 35 9.73076e-26 1.63733e-25 0.006999 1 0 NXPH2 11249 broad.mit.edu 37 2 139429037 139429037 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:139429037G>T uc002tvi.2 - 2 250 c.250C>A c.(250-252)CTG>ATG p.L84M NM_007226 NP_009157 O95156 NXPH2_HUMAN neurexophilin 2 precursor 84 II. neuropeptide signaling pathway extracellular region ovary(3)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(221;0.101) ATGTTGGCCAGCCAATCCCAA 0.493 NA 73 76 3.76054e-38 6.44336e-38 0.00361 1 0 LRP1B 53353 broad.mit.edu 37 2 141274503 141274503 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:141274503C>T uc002tvj.1 - 50 9076 c.8104G>A c.(8104-8106)GAT>AAT p.D2702N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2702 Extracellular (Potential).|LDL-receptor class A 15. 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) TTCTGACCATCGCATATCCAG 0.328 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 6 74 0 0 0.001168 0 0 LRP1B 53353 broad.mit.edu 37 2 141707905 141707905 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:141707905C>G uc002tvj.1 - 20 4007 c.3035G>C c.(3034-3036)AGA>ACA p.R1012T LRP1B_uc010fnl.1_Missense_Mutation_p.R194T NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1012 Extracellular (Potential).|LDL-receptor class A 7. 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) ACTGGAACATCTGAACTGATT 0.488 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 13 61 0 0 0.003163 0 0 TTC21B 79809 broad.mit.edu 37 2 166773863 166773863 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:166773863G>A uc002udk.2 - 14 1936 c.1803C>T c.(1801-1803)TCC>TCT p.S601S NM_024753 NP_079029 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 601 cilium axoneme|cytoplasm|cytoskeleton binding ovary(2)|pancreas(2)|breast(1) 5 TTGATTTTGTGGAAGCTCCAA 0.373 NA 5 127 0 0 0.001168 0 0 SCN9A 6335 broad.mit.edu 37 2 167142874 167142874 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:167142874T>G uc010fpl.2 - 11 1915 c.1574A>C c.(1573-1575)CAT>CCT p.H525P uc002udp.2_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.H396P|SCN9A_uc002uds.1_Missense_Mutation_p.H396P|SCN9A_uc002udt.1_Missense_Mutation_p.H396P NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 525 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) CCTCTTTTCATGTGCTCGCCT 0.438 NA 17 400 0 0 0.006122 0 0 XIRP2 129446 broad.mit.edu 37 2 167760365 167760365 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:167760365A>G uc002udx.2 + 1 391 c.373A>G c.(373-375)AAG>GAG p.K125E XIRP2_uc010fpn.2_Missense_Mutation_p.K125E|XIRP2_uc010fpo.2_Missense_Mutation_p.K125E|XIRP2_uc010fpp.2_Missense_Mutation_p.K125E NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 Error:Variant_position_missing_in_A4UGR9_after_alignment actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 TGAGGCTCCTAAGAGTGGAAA 0.483 NA 10 125 0 0 0.000978 0 0 XIRP2 129446 broad.mit.edu 37 2 168107427 168107427 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:168107427C>A uc002udx.2 + 8 9543 c.9525C>A c.(9523-9525)CCC>CCA p.P3175P XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.P3000P|XIRP2_uc010fpq.2_Silent_p.P2953P|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3000 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTTCTCCACCCAGGAGTCGCT 0.498 NA 14 99 6.31663e-08 8.19849e-08 0.003163 1 0 DLX1 1745 broad.mit.edu 37 2 172952820 172952820 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:172952820C>T uc002uhl.2 + 3 801 c.603C>T c.(601-603)AAC>AAT p.N201N DLX1_uc002uhm.2_3'UTR NM_178120 NP_835221 P56177 DLX1_HUMAN distal-less homeobox 1 isoform 1 201 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) CGTTGGCCAACGGTCGGGCCC 0.612 NA 29 147 0 0 0.00632 0 0 TTN 7273 broad.mit.edu 37 2 179441915 179441915 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:179441915G>A uc010zfg.1 - 273 61667 c.61443C>T c.(61441-61443)ATC>ATT p.I20481I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I14176I|TTN_uc010zfi.1_Silent_p.I14109I|TTN_uc010zfj.1_Silent_p.I13984I|uc002umv.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21408 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AAACATTACTGATTTCAACAG 0.443 NA 8 46 0 0 0.00308 0 0 TTN 7273 broad.mit.edu 37 2 179567252 179567252 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:179567252T>C uc010zfg.1 - 104 26854 c.26630A>G c.(26629-26631)CAG>CGG p.Q8877R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.Q5538R|TTN_uc010fre.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 9804 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTTGTATTTCTGGCTCTCTGT 0.453 NA 13 360 0 0 0.001368 0 0 COL5A2 1290 broad.mit.edu 37 2 189910587 189910587 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:189910587C>A uc002uqk.2 - 46 3523 c.3248G>T c.(3247-3249)GGT>GTT p.G1083V COL5A2_uc010frx.2_Missense_Mutation_p.G659V NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1083 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) TCCAGGGGCACCCTGAGAGCC 0.483 NA 36 71 6.57855e-14 9.83283e-14 0.009718 1 0 NRP2 8828 broad.mit.edu 37 2 206614460 206614460 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:206614460A>G uc002vaw.2 + 11 2589 c.1798A>G c.(1798-1800)ACG>GCG p.T600A NRP2_uc002vau.2_Missense_Mutation_p.T600A|NRP2_uc002vav.2_Missense_Mutation_p.T600A|NRP2_uc002vax.2_Missense_Mutation_p.T600A|NRP2_uc002vay.2_Missense_Mutation_p.T600A NM_201266 NP_957718 O60462 NRP2_HUMAN neuropilin 2 isoform 1 precursor 600 Extracellular (Potential). angiogenesis|axon guidance|cell adhesion integral to membrane|membrane fraction|plasma membrane heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 CTCCAAGCCCACGGTAGAGAC 0.547 NA 12 80 0 0 0.001855 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171353 207171353 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:207171353T>G uc002vbp.2 + 5 2351 c.2101T>G c.(2101-2103)TCT>GCT p.S701A NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 701 nucleic acid binding|zinc ion binding ovary(3) 3 GAGTGTTCAGTCTAGCCGTTC 0.423 NA 5 68 0 0 0.000602 0 0 CPS1 1373 broad.mit.edu 37 2 211456608 211456608 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:211456608C>A uc002vee.3 + 10 1133 c.1001C>A c.(1000-1002)GCT>GAT p.A334D CPS1_uc010fur.2_Missense_Mutation_p.A340D|CPS1_uc010fus.2_5'Flank NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 334 Glutamine amidotransferase type-1. 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) TTCATTACTGCTCAGAATCAT 0.413 NA 10 91 2.17888e-05 2.53002e-05 0.006214 1 0 ACCN4 55515 broad.mit.edu 37 2 220397160 220397160 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:220397160G>A uc002vma.2 + 4 1374 c.1360G>A c.(1360-1362)GTG>ATG p.V454M ACCN4_uc010fwi.1_Missense_Mutation_p.V454M|ACCN4_uc010fwj.1_Missense_Mutation_p.V454M|ACCN4_uc002vly.1_3'UTR|ACCN4_uc002vlz.2_Missense_Mutation_p.V454M|ACCN4_uc002vmb.2_Missense_Mutation_p.V108M NM_182847 NP_878267 Q96FT7 ACCN4_HUMAN amiloride-sensitive cation channel 4 isoform 2 454 Extracellular (Potential). integral to plasma membrane sodium channel activity|sodium ion transmembrane transporter activity ovary(2) 2 Renal(207;0.0183) Epithelial(149;5.47e-10)|all cancers(144;9e-08)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.0086)|READ - Rectum adenocarcinoma(5;0.156) AAAGGAGGCCGTGCTTCAGCG 0.677 NA 6 50 0 0 0.001984 0 0 DIS3L2 129563 broad.mit.edu 37 2 233103338 233103338 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:233103338G>T uc010fxz.2 + 11 1576 c.1300G>T c.(1300-1302)GTC>TTC p.V434F DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 434 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) GGCTACAAGCGTCTACTTGGT 0.423 NA 20 34 1.87028e-06 2.25075e-06 0.001882 1 0 ALPI 248 broad.mit.edu 37 2 233323382 233323382 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:233323382G>T uc002vst.3 + 10 1301 c.1224G>T c.(1222-1224)ACG>ACT p.T408T ALPI_uc002vsu.3_Silent_p.T319T NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 408 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) AAGCCTACACGTCCATCCTGT 0.572 NA 19 25 1.87028e-06 2.25075e-06 0.001882 1 0 UGT1A8 54576 broad.mit.edu 37 2 234526902 234526902 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:234526902C>T uc002vup.2 + 1 612 c.549C>T c.(547-549)TGC>TGT p.C183C UGT1A8_uc010zmv.1_Silent_p.C183C NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 183 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) GTGCACAGTGCCCTGCTCCTC 0.493 NA 37 353 0 0 0.006999 0 0 UGT1A9 54600 broad.mit.edu 37 2 234581299 234581299 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:234581299C>G uc002vus.2 + 1 756 c.719C>G c.(718-720)ACG>AGG p.T240R UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Missense_Mutation_p.T240R NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 240 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) ACACCTGTTACGGAGTATGAT 0.428 NA 248 309 0 0 0.00361 0 0 DNAJB3 414061 broad.mit.edu 37 2 234652434 234652434 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:234652434C>A uc002vuz.2 - 1 228 c.129G>T c.(127-129)GAG>GAT p.E43D UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Intron|UGT1A3_uc002vuy.2_Intron NM_001001394 NP_001001394 Q8WWF6 DNJB3_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 3 43 J. protein folding heat shock protein binding|unfolded protein binding 0 TGAATCTCCTCTCCGCTTCCT 0.627 NA 24 270 4.06085e-26 6.85345e-26 0.007291 1 0 COL6A3 1293 broad.mit.edu 37 2 238285946 238285946 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr2:238285946T>C uc002vwl.2 - 7 2824 c.2539A>G c.(2539-2541)AAT>GAT p.N847D COL6A3_uc002vwo.2_Missense_Mutation_p.N641D|COL6A3_uc010znj.1_Missense_Mutation_p.N240D|COL6A3_uc002vwq.2_Missense_Mutation_p.N641D|COL6A3_uc002vwr.2_Missense_Mutation_p.N440D|COL6A3_uc010znk.1_Missense_Mutation_p.N647D NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 847 Nonhelical region.|VWFA 5. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCCACAAGATTGGCTGAGCCG 0.498 NA 53 57 0 0 0.00361 0 0 SIRPA 140885 broad.mit.edu 37 20 1903223 1903223 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:1903223C>T uc002wfq.2 + 5 1379 c.1019C>T c.(1018-1020)GCG>GTG p.A340V SIRPA_uc010zps.1_Missense_Mutation_p.A320V|SIRPA_uc002wfr.2_Missense_Mutation_p.A340V|SIRPA_uc002wfs.2_Missense_Mutation_p.A340V|SIRPA_uc002wft.2_Missense_Mutation_p.A340V NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 340 Ig-like C1-type 2.|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) GGGCAGCCAGCGGTCAGCAAA 0.572 GBM(155;1668 1920 5945 42733 48121) NA 15 41 0 0 0.004007 0 0 SLC4A11 83959 broad.mit.edu 37 20 3215504 3215504 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:3215504G>T uc002wig.2 - 2 221 c.173C>A c.(172-174)GCC>GAC p.A58D SLC4A11_uc010zqe.1_Missense_Mutation_p.A85D|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.A42D NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 58 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CTCCTCTCGGGCTTCGAAGGT 0.542 NSCLC(190;922 2139 10266 10292 38692) NA 21 46 7.87624e-14 1.17412e-13 0.00278 1 0 RASSF2 9770 broad.mit.edu 37 20 4776594 4776594 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:4776594C>A uc002wld.2 - 4 208 c.154G>T c.(154-156)GTG>TTG p.V52L RASSF2_uc002wlc.2_5'Flank|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.V52L NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 52 cell cycle|signal transduction nucleus protein binding ovary(3)|lung(2)|large_intestine(1) 6 AGCCCCTCCACAATGAACTCG 0.562 Melanoma(158;1891 3343 50738) NA 17 59 9.7654e-05 0.000110648 0.007413 1 0 PLCB1 23236 broad.mit.edu 37 20 8719992 8719992 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:8719992C>A uc002wnb.2 + 21 2296 c.2293C>A c.(2293-2295)CAA>AAA p.Q765K PLCB1_uc010zrb.1_Missense_Mutation_p.Q664K|PLCB1_uc002wna.2_Missense_Mutation_p.Q765K|PLCB1_uc002wnc.1_Missense_Mutation_p.Q664K|PLCB1_uc002wnd.1_Missense_Mutation_p.Q342K NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 765 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 CTTGCCAGTGCAAGCCATTCG 0.393 NA 5 70 0.00116845 0.00125798 0.001168 1 0 PAK7 57144 broad.mit.edu 37 20 9546642 9546642 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:9546642G>T uc002wnl.2 - 6 1925 c.1380C>A c.(1378-1380)ACC>ACA p.T460T PAK7_uc002wnk.2_Silent_p.T460T|PAK7_uc002wnj.2_Silent_p.T460T|PAK7_uc010gby.1_Silent_p.T460T NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 460 Protein kinase.|ATP (By similarity). ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) ATACGATGCCGGTTGAGCCTT 0.532 NA 8 194 7.48243e-07 9.30337e-07 0.006214 1 0 RALGAPA2 57186 broad.mit.edu 37 20 20563737 20563737 + Silent SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:20563737A>C uc002wrz.2 - 20 2807 c.2664T>G c.(2662-2664)CGT>CGG p.R888R RALGAPA2_uc010gcx.2_Silent_p.R592R|RALGAPA2_uc010zsg.1_Silent_p.R336R NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 888 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GTAACCAATGACGGGCATCAG 0.478 NA 6 65 0 0 0.001168 0 0 SEMG1 6406 broad.mit.edu 37 20 43836993 43836993 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:43836993G>A uc002xni.2 + 2 1112 c.1055G>A c.(1054-1056)AGT>AAT p.S352N SEMG1_uc002xnj.2_Missense_Mutation_p.S292N|SEMG2_uc010ggz.2_Intron|SEMG1_uc002xnh.2_Intron NM_003007 NP_002998 P04279 SEMG1_HUMAN semenogelin I preproprotein 352 58 AA repeat 2. insemination|sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(2) 2 Myeloproliferative disorder(115;0.0122) CAATCTTCAAGTACGGAAGAA 0.408 NA 6 35 0 0 0.001168 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44506100 44506100 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:44506100C>T uc002xqd.2 + 2 1106 c.903C>T c.(901-903)GCC>GCT p.A301A ZSWIM3_uc010zxg.1_Silent_p.A295A NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 301 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) TTCCTGCTGCCCGCATCCTCC 0.502 NA 12 77 0 0 0.000978 0 0 TFAP2C 7022 broad.mit.edu 37 20 55208437 55208437 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:55208437G>T uc002xya.2 + 4 858 c.615G>T c.(613-615)CTG>CTT p.L205L TFAP2C_uc010zzi.1_Silent_p.L36L NM_003222 NP_003213 Q92754 AP2C_HUMAN transcription factor AP-2 gamma 205 cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Colorectal(105;0.229) AGAACCCTCTGAACCTCCCCT 0.517 NA 11 70 6.40141e-05 7.32707e-05 0.000978 1 0 CDH4 1002 broad.mit.edu 37 20 60499428 60499428 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:60499428C>T uc002ybn.1 + 11 1679 c.1665C>T c.(1663-1665)CAC>CAT p.H555H CDH4_uc002ybp.1_Silent_p.H481H NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 555 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) GCTGGCTGCACATCAATGCCA 0.622 NA 6 65 0 0 0.001984 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834123 61834123 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr20:61834123C>G uc002yeh.2 - 4 1463 c.1169G>C c.(1168-1170)CGT>CCT p.R390P YTHDF1_uc011aaq.1_Missense_Mutation_p.R340P NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 390 YTH. ovary(2) 2 GATGAACACACGCCCGCTTTT 0.532 NA 51 116 0 0 0.00361 0 0 JAM2 58494 broad.mit.edu 37 21 27071084 27071084 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr21:27071084C>A uc002ylp.1 + 5 1035 c.490C>A c.(490-492)CCT>ACT p.P164T JAM2_uc011ace.1_Missense_Mutation_p.P164T|JAM2_uc002ylq.1_RNA|JAM2_uc011acf.1_Missense_Mutation_p.P128T|JAM2_uc010glh.1_RNA|JAM2_uc002ylr.1_Missense_Mutation_p.P164T|JAM2_uc010gli.1_Missense_Mutation_p.P164T NM_021219 NP_067042 P57087 JAM2_HUMAN junctional adhesion molecule 2 precursor 164 Extracellular (Potential).|Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration integral to plasma membrane|tight junction 0 GAATCCAGCTCCTGAATACAC 0.463 NA 29 45 1.04121e-07 1.34211e-07 0.005443 1 0 KRTAP6-1 337966 broad.mit.edu 37 21 31986019 31986019 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr21:31986019A>T uc002yop.2 - 1 205 c.205T>A c.(205-207)TAC>AAC p.Y69N KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 69 cytosol|intermediate filament 0 CAATAATAGTAGCCAGAGCCA 0.532 NA 24 146 0 0 0.00333 0 0 KRTAP11-1 337880 broad.mit.edu 37 21 32253732 32253732 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr21:32253732C>A uc002yov.2 - 1 143 c.112G>T c.(112-114)GGC>TGC p.G38C NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 38 keratin filament structural molecule activity pancreas(1) 1 CAGATGCCGCCCAGGCAGTCA 0.567 NA 35 60 1.45844e-13 2.16264e-13 0.002836 1 0 TIAM1 7074 broad.mit.edu 37 21 32639219 32639219 + Missense_Mutation SNP T T G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr21:32639219T>G uc002yow.1 - 5 542 c.70A>C c.(70-72)AAG>CAG p.K24Q TIAM1_uc011adk.1_Missense_Mutation_p.K24Q|TIAM1_uc011adl.1_Missense_Mutation_p.K24Q|TIAM1_uc002yox.1_Intron NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 24 KH -> ND (in Ref. 1; AAA98443). apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 GAAGTGTGCTTGCGCCCCAGG 0.582 NA 10 55 0 0 0.000978 0 0 GCFC1 94104 broad.mit.edu 37 21 34136681 34136681 + Silent SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr21:34136681A>C uc002yqn.2 - 3 817 c.627T>G c.(625-627)TCT>TCG p.S209S GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Silent_p.S209S|GCFC1_uc002yqr.2_Silent_p.S209S NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 209 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 CATTCAATGAAGATAAAGCAT 0.358 NA 14 67 0 0 0.003163 0 0 PI4KA 5297 broad.mit.edu 37 22 21174084 21174084 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr22:21174084T>C uc002zsz.3 - 6 691 c.460A>G c.(460-462)ATC>GTC p.I154V PI4KA_uc010gsq.1_Missense_Mutation_p.I212V NM_058004 NP_477352 P42356 PI4KA_HUMAN phosphatidylinositol 4-kinase type 3 alpha 154 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) TGAGGAGGGATTTTGGGAAAG 0.507 GBM(136;1332 1831 3115 23601 50806) NA 70 160 0 0 0.00361 0 0 IGLL3 91353 broad.mit.edu 37 22 25715839 25715839 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr22:25715839G>A uc003abr.2 + 2 561 c.461G>A c.(460-462)GGA>GAA p.G154E NM_001013618 NP_001013640 immunoglobulin lambda-like polypeptide 3 0 TTCTATCTGGGAATCTTGACG 0.582 NA 7 132 0 0 0.00308 0 0 DMC1 11144 broad.mit.edu 37 22 38962738 38962738 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr22:38962738C>T uc003avz.1 - 4 275 c.100G>A c.(100-102)GTG>ATG p.V34M DMC1_uc011anv.1_Missense_Mutation_p.V34M|DMC1_uc003awa.1_Missense_Mutation_p.V34M NM_007068 NP_008999 Q14565 DMC1_HUMAN DMC1 dosage suppressor of mck1 homolog 34 reciprocal meiotic recombination condensed nuclear chromosome ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding ovary(1) 1 Melanoma(58;0.0286) ATGTCAGCCACGTTCTGTAAA 0.428 NA Homologous_recombination 4 43 0 0 0.009096 0 0 TAB1 10454 broad.mit.edu 37 22 39811578 39811578 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr22:39811578C>G uc003axt.2 + 3 293 c.244C>G c.(244-246)CAG>GAG p.Q82E TAB1_uc003axr.2_Missense_Mutation_p.Q158E|TAB1_uc011aok.1_5'UTR|TAB1_uc003axu.1_Missense_Mutation_p.Q82E NM_006116 NP_006107 Q15750 TAB1_HUMAN mitogen-activated protein kinase kinase kinase 7 82 PP2C-like. activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane catalytic activity|protein binding breast(1) 1 CTTCGTGGCCCAGCGGCTGTC 0.632 NA 25 45 0 0 0.00333 0 0 TEF 7008 broad.mit.edu 37 22 41790242 41790242 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr22:41790242C>G uc003azy.2 + 3 704 c.618C>G c.(616-618)CAC>CAG p.H206Q TEF_uc003azx.2_Missense_Mutation_p.H176Q|TEF_uc011apa.1_Missense_Mutation_p.H211Q NM_003216 NP_003207 Q10587 TEF_HUMAN thyrotrophic embryonic factor isoform 1 206 Pro-rich (proline/acidic region (PAR)). rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTCGGAAGCACAAGTTTGCTG 0.542 NA 14 89 0 0 0.001855 0 0 CHL1 10752 broad.mit.edu 37 3 447225 447226 + Missense_Mutation DNP GG GG TT TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:447225_447226GG>TT uc003bou.2 + 27 3729_3730 c.3458_3459GG>TT c.(3457-3459)AGG>ATT p.R1153I CHL1_uc003bot.2_Missense_Mutation_p.R1169I|CHL1_uc011asi.1_Missense_Mutation_p.R1116I NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1153 Cytoplasmic (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) TCCCTTAATAGGGATATGCAGC 0.406 NA 10 58 0 0 0.004672 0 0 TBC1D5 9779 broad.mit.edu 37 3 17208305 17208305 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:17208305C>A uc003cbf.2 - 21 3713 c.2048G>T c.(2047-2049)GGC>GTC p.G683V TBC1D5_uc010heu.2_Missense_Mutation_p.G270V|TBC1D5_uc010hev.2_Missense_Mutation_p.G705V|TBC1D5_uc003cbe.2_Missense_Mutation_p.G683V NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 683 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 TTGGCCTCGGCCCTGGCCCTG 0.522 NA 23 58 1.9806e-07 2.52976e-07 0.002299 1 0 TBC1D5 9779 broad.mit.edu 37 3 17299997 17299997 + Splice_Site SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:17299997C>A uc003cbf.2 - 16 2996 c.1331_splice c.e16+1 p.R444_splice TBC1D5_uc010heu.2_Splice_Site_p.R31_splice|TBC1D5_uc010hev.2_Splice_Site_p.R444_splice|TBC1D5_uc003cbe.2_Splice_Site_p.R444_splice|TBC1D5_uc010hew.1_Splice_Site_p.R396_splice NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b intracellular protein binding|Rab GTPase activator activity ovary(1) 1 AGGGGACTTACCGGCTTTTAT 0.333 NA 57 187 6.60958e-23 1.07982e-22 0.00361 1 0 KCNH8 131096 broad.mit.edu 37 3 19575253 19575253 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:19575253T>A uc003cbk.1 + 16 3181 c.2986T>A c.(2986-2988)TCC>ACC p.S996T KCNH8_uc010hex.1_Missense_Mutation_p.S457T NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 996 Ser-rich.|Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 TTATTCACCTTCCCACTACCA 0.478 NSCLC(124;1625 1765 8018 24930 42026) NA 14 247 0 0 0.00245 0 0 EFHB 151651 broad.mit.edu 37 3 19938246 19938246 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:19938246T>C uc003cbl.3 - 9 1854 c.1658A>G c.(1657-1659)CAT>CGT p.H553R EFHB_uc003cbm.2_Missense_Mutation_p.H423R NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 553 signal transduction proteinaceous extracellular matrix calcium ion binding 0 CTTCAGGTGATGCCGAACTGC 0.458 NA 21 71 0 0 0.00333 0 0 TMPPE 643853 broad.mit.edu 37 3 33134917 33134917 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:33134917C>T uc003cfk.2 - 2 962 c.771G>A c.(769-771)ACG>ACA p.T257T GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Silent_p.T120T NM_001039770 NP_001034859 Q6ZT21 TMPPE_HUMAN transmembrane protein with 257 integral to membrane metal ion binding 0 GAGCGACAGCCGTCCGCAGGA 0.537 NA 6 122 0 0 0.00308 0 0 ZNF445 353274 broad.mit.edu 37 3 44496938 44496938 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:44496938T>C uc003cnf.2 - 3 452 c.104A>G c.(103-105)TAT>TGT p.Y35C ZNF445_uc011azv.1_Missense_Mutation_p.Y35C|ZNF445_uc011azw.1_Missense_Mutation_p.Y35C NM_181489 NP_852466 P59923 ZN445_HUMAN zinc finger protein 445 35 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CACTGGAGTATAGCTTTCATC 0.592 NA 33 96 0 0 0.002836 0 0 PLXNB1 5364 broad.mit.edu 37 3 48459666 48459666 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:48459666C>A uc003csw.2 - 15 3426 c.3156G>T c.(3154-3156)GTG>GTT p.V1052V PLXNB1_uc003csu.2_Silent_p.V869V|PLXNB1_uc003csx.2_Silent_p.V1052V|PLXNB1_uc010hjx.1_RNA|PLXNB1_uc003csy.1_5'Flank NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 1052 Extracellular (Potential). axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTCCCGGGTCACACAACGTG 0.622 NA 5 23 1.23904e-05 1.45374e-05 0.000602 1 0 LAMB2 3913 broad.mit.edu 37 3 49161443 49161443 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:49161443C>A uc003cwe.2 - 24 3814 c.3515G>T c.(3514-3516)CGC>CTC p.R1172L NM_002292 NP_002283 P55268 LAMB2_HUMAN laminin, beta 2 precursor 1172 Laminin EGF-like 13. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CTGGTCACAGCGCACACCAGA 0.582 NA 9 47 1.58986e-06 1.92151e-06 0.008291 1 0 VPRBP 9730 broad.mit.edu 37 3 51475837 51475837 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:51475837C>A uc003dbe.1 - 8 758 c.590G>T c.(589-591)AGT>ATT p.S197I VPRBP_uc003dbg.1_Missense_Mutation_p.S197I NM_014703 NP_055518 Q9Y4B6 VPRBP_HUMAN HIV-1 Vpr binding protein 197 interspecies interaction between organisms cytoplasm|nucleus protein binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CTTCCGTGGACTGGGACGCTT 0.498 NA 70 228 2.40041e-21 3.85438e-21 0.00361 1 0 ALAS1 211 broad.mit.edu 37 3 52236729 52236729 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:52236729G>T uc003dcy.1 + 4 743 c.406G>T c.(406-408)GAA>TAA p.E136* ALAS1_uc003dcx.1_Nonsense_Mutation_p.E136*|ALAS1_uc003dcz.1_Nonsense_Mutation_p.E136*|ALAS1_uc011bec.1_Nonsense_Mutation_p.E153* NM_000688 NP_000679 P13196 HEM1_HUMAN 5-aminolevulinate synthase 1 precursor 136 heme biosynthetic process mitochondrial matrix 5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(2)|upper_aerodigestive_tract(1) 3 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GGATGTGCAGGAAATGAATGC 0.488 NA 14 47 1.5842e-08 2.09487e-08 0.001855 1 0 ASB14 142686 broad.mit.edu 37 3 57311911 57311911 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:57311911A>T uc003diq.2 - 9 1565 c.977T>A c.(976-978)CTC>CAC p.L326H ASB14_uc003dip.1_Missense_Mutation_p.L205H NM_001142733 NP_001136205 A6NK59 ASB14_HUMAN ankyrin repeat and SOCS box-containing 14 490 intracellular signal transduction 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CTTTCCAGAGAGATGTTGCAG 0.383 NA 12 56 0 0 0.000978 0 0 LRIG1 26018 broad.mit.edu 37 3 66502041 66502041 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:66502041C>A uc003dmx.2 - 3 321 c.307G>T c.(307-309)GAG>TAG p.E103* LRIG1_uc010hnz.2_5'UTR|LRIG1_uc010hoa.2_Nonsense_Mutation_p.E103* NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 103 Extracellular (Potential).|LRR 2. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GCTGTCAACTCATTATTATTG 0.438 NA 22 93 0.00188189 0.00202222 0.001882 1 0 FOXP1 27086 broad.mit.edu 37 3 71015118 71015118 + Silent SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:71015118T>C uc003dol.2 - 16 2135 c.1812A>G c.(1810-1812)GAA>GAG p.E604E FOXP1_uc003dom.2_Silent_p.E528E|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Silent_p.E603E|FOXP1_uc003dop.2_Silent_p.E604E|FOXP1_uc003doq.1_Intron|FOXP1_uc003doi.2_Silent_p.E504E|FOXP1_uc003doj.2_Silent_p.E504E|FOXP1_uc003dok.2_Silent_p.E417E NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 604 cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) CGTTCAGCTCTTCCCGTATTG 0.517 NA T PAX5 ALL 13 182 0 0 0.001855 0 0 PDZRN3 23024 broad.mit.edu 37 3 73432636 73432636 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:73432636C>A uc003dpl.1 - 10 3177 c.3081G>T c.(3079-3081)AAG>AAT p.K1027N PDZRN3_uc011bgh.1_Missense_Mutation_p.K684N|PDZRN3_uc010hoe.1_Missense_Mutation_p.K725N|PDZRN3_uc011bgf.1_Missense_Mutation_p.K744N|PDZRN3_uc011bgg.1_Missense_Mutation_p.K747N NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 1027 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TATTCCTCTTCTTCATCATCT 0.458 NA 76 237 7.97268e-31 1.35777e-30 0.00361 1 0 ROBO2 6092 broad.mit.edu 37 3 77147283 77147283 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:77147283C>T uc003dpy.3 + 2 823 c.180C>T c.(178-180)CCC>CCT p.P60P ROBO2_uc003dpz.2_Silent_p.P60P|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Silent_p.P60P NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 60 Ig-like C2-type 1.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) GGCCAACGCCCACCATTGAGT 0.592 NA 12 36 0 0 0.000978 0 0 ROBO2 6092 broad.mit.edu 37 3 77542523 77542523 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:77542523C>G uc003dpy.3 + 5 1439 c.796C>G c.(796-798)CCA>GCA p.P266A ROBO2_uc003dpz.2_Missense_Mutation_p.P266A|ROBO2_uc011bgj.1_RNA|ROBO2_uc011bgk.1_Missense_Mutation_p.P266A NM_002942 NP_002933 Q9HCK4 ROBO2_HUMAN roundabout, axon guidance receptor, homolog 2 266 Ig-like C2-type 3.|Extracellular (Potential). apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development axolemma|cell surface|integral to membrane axon guidance receptor activity|identical protein binding lung(5)|skin(3)|ovary(1)|large_intestine(1)|liver(1) 11 Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103) TGCAGACTTGCCAAGAGGAAG 0.418 NA 8 53 0 0 0.004482 0 0 OR5K4 403278 broad.mit.edu 37 3 98072805 98072805 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:98072805G>T uc011bgv.1 + 1 108 c.108G>T c.(106-108)CTG>CTT p.L36L NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CCATCTATCTGGTCACCATGG 0.458 NA 17 285 4.14922e-12 5.97913e-12 0.004007 1 0 OR5K1 26339 broad.mit.edu 37 3 98188738 98188738 + Silent SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:98188738T>A uc003dsm.2 + 1 318 c.318T>A c.(316-318)ACT>ACA p.T106T NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 TTCTTTGCACTGTGGAAACTG 0.438 NA 22 219 0 0 0.001882 0 0 CPNE4 131034 broad.mit.edu 37 3 131388541 131388542 + Missense_Mutation DNP CC CC AA TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:131388541_131388542CC>AA uc003eok.2 - 7 1093_1094 c.658_659GG>TT c.(658-660)GGA>TTA p.G220L CPNE4_uc011blq.1_Missense_Mutation_p.G238L|CPNE4_uc003eol.2_Missense_Mutation_p.G238L|CPNE4_uc003eom.2_Missense_Mutation_p.G220L NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 220 C2 2. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 GTCTGGGTCTCCGCTGCATAGA 0.386 NA 67 137 0 0 0.004672 0 0 TRIM42 287015 broad.mit.edu 37 3 140401341 140401341 + Missense_Mutation SNP C C A rs149207203 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:140401341C>A uc003eto.1 + 2 570 c.379C>A c.(379-381)CAG>AAG p.Q127K NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 127 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CAGCGATACCCAGGTGGATGA 0.562 NA 19 52 1.2644e-06 1.54814e-06 0.010504 1 0 CCDC39 339829 broad.mit.edu 37 3 180377471 180377471 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr3:180377471G>T uc010hxe.2 - 5 718 c.603C>A c.(601-603)AGC>AGA p.S201R CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 201 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TAACCTGTGCGCTTATAGTCT 0.328 NA 7 94 1.26484e-09 1.71701e-09 0.00308 1 0 PDE6B 5158 broad.mit.edu 37 4 619514 619514 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:619514C>A uc003gap.2 + 1 152 c.99C>A c.(97-99)GCC>GCA p.A33A PDE6B_uc003gao.3_Silent_p.A33A NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 33 AAA -> GRG (in Ref. 1; CAA44569, 2; CAA46932 and 3; AAB22690). 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 AGAATGTGGCCGCGGCCTGCG 0.493 GBM(71;463 1194 9848 25922 46834) NA 14 48 1.3612e-06 1.65584e-06 0.003163 1 0 PSAPL1 768239 broad.mit.edu 37 4 7435591 7435591 + Nonsense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:7435591A>T uc011bwj.1 - 1 1110 c.1016T>A c.(1015-1017)TTG>TAG p.L339* SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 339 Saposin B-type 3. sphingolipid metabolic process extracellular region|lysosome 0 GGTGTCCACCAAGATGATGCA 0.582 NA 32 77 0 0 0.002096 0 0 BOD1L 259282 broad.mit.edu 37 4 13605874 13605874 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:13605874C>A uc003gmz.1 - 10 2767 c.2650G>T c.(2650-2652)GAT>TAT p.D884Y BOD1L_uc010idr.1_Missense_Mutation_p.D221Y NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 884 Lys-rich. DNA binding ovary(5)|breast(1) 6 AAATTACTATCCATGTTAGTG 0.373 NA 11 71 3.07112e-06 3.6801e-06 0.000978 1 0 GPR125 166647 broad.mit.edu 37 4 22390174 22390174 + Silent SNP C C G rs12700 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:22390174C>G uc003gqm.1 - 19 3385 c.3120G>C c.(3118-3120)GCG>GCC p.A1040A GPR125_uc010ieo.1_Silent_p.A896A|GPR125_uc003gql.1_Silent_p.A167A NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 1040 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) CCACGAAGAACGCACTGAAGC 0.468 NA 11 54 0 0 0.000978 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23814457 23814457 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:23814457C>G uc003gqs.2 - 10 2052 c.1932G>C c.(1930-1932)AGG>AGC p.R644S PPARGC1A_uc003gqt.2_RNA NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN peroxisome proliferator-activated receptor 644 androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding ovary(2)|lung(2)|kidney(2)|skin(2) 8 Breast(46;0.0503) CCCTCTTCAGCCTCTCGTGCT 0.448 Esophageal Squamous(29;694 744 13796 34866 44181) NA 25 144 0 0 0.003954 0 0 SEPSECS 51091 broad.mit.edu 37 4 25125605 25125605 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:25125605G>C uc003grg.2 - 11 1667 c.1454C>G c.(1453-1455)GCT>GGT p.A485G SEPSECS_uc003gri.2_Missense_Mutation_p.A484G|SEPSECS_uc003grh.2_Missense_Mutation_p.A406G NM_153825 NP_722547 Q9HD40 SPCS_HUMAN Sep (O-phosphoserine) tRNA:Sec (selenocysteine) 485 SLA/LP epitope. selenocysteine incorporation cytoplasm|nucleus pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding 0 Breast(46;0.173) Pyridoxal Phosphate(DB00114) TAGTTTTAAAGCCATTTCTTC 0.353 NA 23 88 0 0 0.001882 0 0 WDR19 57728 broad.mit.edu 37 4 39207199 39207199 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:39207199A>T uc003gtv.2 + 9 887 c.733A>T c.(733-735)ATC>TTC p.I245F WDR19_uc010ifl.1_Missense_Mutation_p.I62F|WDR19_uc003gtu.1_Missense_Mutation_p.I245F|WDR19_uc011byi.1_Missense_Mutation_p.I85F NM_025132 NP_079408 Q8NEZ3 WDR19_HUMAN WD repeat domain 19 245 cell projection organization microtubule basal body|motile cilium|photoreceptor connecting cilium binding large_intestine(1) 1 TGATGGCCGCATCATGATTGG 0.378 NA 6 30 0 0 0.001168 0 0 GABRA4 2557 broad.mit.edu 37 4 46979500 46979500 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:46979500C>T uc003gxg.2 - 4 560 c.421G>A c.(421-423)GTC>ATC p.V141I NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 141 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTATGTGAGACAGATTTCTTT 0.299 Ovarian(6;283 369 8234 12290 33402) NA 8 47 0 0 0.004482 0 0 LPHN3 23284 broad.mit.edu 37 4 62845477 62845477 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:62845477G>A uc010ihh.2 + 15 2971 c.2798G>A c.(2797-2799)CGA>CAA p.R933Q LPHN3_uc003hcq.3_Missense_Mutation_p.R933Q|LPHN3_uc003hct.2_Missense_Mutation_p.R326Q NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 920 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 GGGATCAACCGAACTGACCAA 0.443 NA 14 136 0 0 0.004007 0 0 EPHA5 2044 broad.mit.edu 37 4 66467644 66467645 + Nonsense_Mutation DNP CC CC AG TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:66467644_66467645CC>AG uc003hcy.2 - 3 817_818 c.624_625GG>CT c.(622-627)AAGGGA>AACTGA p.208_209KG>N* EPHA5_uc003hcx.2_Nonsense_Mutation_p.139_140KG>N*|EPHA5_uc003hcz.2_Nonsense_Mutation_p.208_209KG>N*|EPHA5_uc011cah.1_Nonsense_Mutation_p.208_209KG>N*|EPHA5_uc011cai.1_Nonsense_Mutation_p.208_209KG>N*|EPHA5_uc003hda.2_Nonsense_Mutation_p.208_209KG>N* NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 208_209 Extracellular (Potential). cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 AGATAAAATCCCTTTTTGCTTA 0.416 NA TSP Lung(17;0.13) 5 73 0 0 0.004672 0 0 TMPRSS11B 132724 broad.mit.edu 37 4 69107500 69107500 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:69107500A>T uc003hdw.3 - 2 167 c.31T>A c.(31-33)TCT>ACT p.S11T NM_182502 NP_872308 Q86T26 TM11B_HUMAN transmembrane protease, serine 11B 11 Cytoplasmic (Potential). proteolysis extracellular region|integral to plasma membrane serine-type endopeptidase activity ovary(1) 1 AGTGGCCAAGATCTTTGGGAA 0.403 NA 4 80 0 0 0.009096 0 0 Unknown 0 broad.mit.edu 37 4 69362415 69362415 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:69362415G>T uc003hdz.3 + 10 1229 c.1165G>T c.(1165-1167)GCT>TCT p.A389S NM_014058 NP_054777 transmembrane protease, serine 11E NA CTGGTACCTTGCTGGAATAGT 0.438 NA 76 431 3.78398e-24 6.27315e-24 0.00361 1 0 CCNG2 901 broad.mit.edu 37 4 78081897 78081897 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:78081897C>T uc003hkq.3 + 4 603 c.300C>T c.(298-300)TGC>TGT p.C100C CCNG2_uc003hkn.3_Silent_p.C100C|CCNG2_uc011ccc.1_Silent_p.C100C|CCNG2_uc003hkp.3_Silent_p.C100C NM_004354 NP_004345 Q16589 CCNG2_HUMAN cyclin G2 100 cell cycle checkpoint|cell division|mitosis cytoplasm ovary(2)|lung(1) 3 ATTTGTCTTGCATTGGAGTCT 0.363 NA 8 160 0 0 0.004482 0 0 ANXA3 306 broad.mit.edu 37 4 79512740 79512740 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:79512740C>G uc003hld.2 + 7 756 c.446C>G c.(445-447)TCT>TGT p.S149C ANXA3_uc003hle.2_Missense_Mutation_p.S110C|ANXA3_uc010ijk.2_Missense_Mutation_p.S110C NM_005139 NP_005130 P12429 ANXA3_HUMAN annexin A3 149 Annexin 2. defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity 0 TCCGAAACATCTGGTGACTTC 0.333 GBM(2;126 157 27790 28920 42492) NA 19 124 0 0 0.001882 0 0 SEC31A 22872 broad.mit.edu 37 4 83799966 83799966 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:83799966T>A uc003hnf.2 - 4 483 c.319A>T c.(319-321)ATA>TTA p.I107L SEC31A_uc011ccl.1_Missense_Mutation_p.I107L|SEC31A_uc003hnl.2_Missense_Mutation_p.I107L|SEC31A_uc003hng.2_Missense_Mutation_p.I107L|SEC31A_uc003hnh.2_Missense_Mutation_p.I107L|SEC31A_uc003hni.2_Missense_Mutation_p.I107L|SEC31A_uc003hnj.2_Missense_Mutation_p.I107L|SEC31A_uc011ccm.1_Missense_Mutation_p.I102L|SEC31A_uc011ccn.1_Missense_Mutation_p.I107L|SEC31A_uc003hnk.2_Missense_Mutation_p.I107L|SEC31A_uc003hnm.2_Missense_Mutation_p.I107L|SEC31A_uc003hnn.1_Missense_Mutation_p.I107L|SEC31A_uc003hno.2_Missense_Mutation_p.I107L NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 107 WD 1. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TCTCCAGCTATAATTTTAGAA 0.403 NA 14 65 0 0 0.001855 0 0 GRID2 2895 broad.mit.edu 37 4 94690490 94690490 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:94690490C>A uc011cdt.1 + 15 2748 c.2490C>A c.(2488-2490)AGC>AGA p.S830R GRID2_uc011cdu.1_Missense_Mutation_p.S735R NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 830 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) ACATAAAGAGCTTTGCAGGGG 0.532 NA 23 69 3.08376e-08 4.03041e-08 0.00333 1 0 ANK2 287 broad.mit.edu 37 4 114176923 114176923 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:114176923G>T uc003ibe.3 + 11 1123 c.1023G>T c.(1021-1023)CAG>CAT p.Q341H ANK2_uc003ibd.3_Missense_Mutation_p.Q320H|ANK2_uc003ibf.3_Missense_Mutation_p.Q341H|ANK2_uc003ibc.2_Missense_Mutation_p.Q317H|ANK2_uc011cgb.1_Missense_Mutation_p.Q356H NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 341 ANK 10. axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TGGCTGCCCAGGGAGACCACG 0.458 NA 28 155 6.04164e-23 9.89914e-23 0.002096 1 0 KIAA1109 84162 broad.mit.edu 37 4 123274259 123274259 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:123274259G>C uc003ieh.2 + 79 14095 c.14050G>C c.(14050-14052)GAA>CAA p.E4684Q KIAA1109_uc003iem.2_Missense_Mutation_p.E1040Q NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4684 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTTTCATTTAGAAGAACCAAA 0.368 NA 18 48 0 0 0.006122 0 0 KIAA1109 84162 broad.mit.edu 37 4 123275152 123275152 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:123275152T>C uc003ieh.2 + 80 14330 c.14285T>C c.(14284-14286)GTT>GCT p.V4762A KIAA1109_uc003iem.2_Missense_Mutation_p.V1118A NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4762 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 TTCAATTATGTTACAGCTACA 0.358 NA 4 21 0 0 0.009096 0 0 FAT4 79633 broad.mit.edu 37 4 126241342 126241342 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:126241342C>G uc003ifj.3 + 1 3776 c.3776C>G c.(3775-3777)GCT>GGT p.A1259G NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 1259 Cadherin 12.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGACAGTTTGCTATAGACAGT 0.378 NA 10 61 0 0 0.006214 0 0 KIAA0922 23240 broad.mit.edu 37 4 154523459 154523459 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:154523459G>T uc003inm.3 + 22 2471 c.2419G>T c.(2419-2421)GAC>TAC p.D807Y KIAA0922_uc010ipp.2_Missense_Mutation_p.D808Y|KIAA0922_uc010ipq.2_Missense_Mutation_p.D576Y NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 807 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) GTTTTCCCTGGACCCAAACAC 0.408 NA 26 137 8.4185e-14 1.25164e-13 0.002445 1 0 DCHS2 54798 broad.mit.edu 37 4 155219801 155219801 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:155219801G>T uc003inw.2 - 18 4300 c.4300C>A c.(4300-4302)CGT>AGT p.R1434S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1434 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) TCCAAAGCACGAGTGGTTGAG 0.393 NA 5 90 0.000602214 0.000658452 0.000602 1 0 FGG 2266 broad.mit.edu 37 4 155527940 155527940 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:155527940T>A uc003ioj.2 - 8 1187 c.1046A>T c.(1045-1047)GAA>GTA p.E349V FGG_uc003iog.2_Missense_Mutation_p.E349V|FGG_uc003ioh.2_Missense_Mutation_p.E357V|FGG_uc010ipx.2_Missense_Mutation_p.E177V|FGG_uc010ipy.2_Missense_Mutation_p.E60V|FGG_uc003ioi.2_Missense_Mutation_p.E60V|FGG_uc003iok.2_Missense_Mutation_p.E357V NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 349 |Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) ACAGTTGCCTTCAAACTTATC 0.423 NA 14 85 0 0 0.001855 0 0 GRIA2 2891 broad.mit.edu 37 4 158238855 158238855 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:158238855G>A uc003ipm.3 + 5 1171 c.712G>A c.(712-714)GCA>ACA p.A238T GRIA2_uc011cit.1_Missense_Mutation_p.A191T|GRIA2_uc003ipl.3_Missense_Mutation_p.A238T|GRIA2_uc003ipk.3_Missense_Mutation_p.A191T|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 238 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CTACATCATTGCAAATCTGGT 0.254 NA 4 16 0 0 0.001168 0 0 PALLD 23022 broad.mit.edu 37 4 169837113 169837113 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:169837113C>T uc011cjx.1 + 17 2996 c.2785C>T c.(2785-2787)CAC>TAC p.H929Y CBR4_uc011cjy.1_Intron|PALLD_uc003iru.2_Missense_Mutation_p.H912Y|PALLD_uc003irv.2_Missense_Mutation_p.H530Y|PALLD_uc003irw.2_Missense_Mutation_p.H414Y|PALLD_uc003irx.2_Missense_Mutation_p.H138Y NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 1136 Ig-like C2-type 4. cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) CTTCAGACCTCACTTCTTGCA 0.423 Esophageal Squamous(109;1482 1532 18347 40239 51172) NA Pancreatic_Cancer_Familial_Clustering_of 15 51 0 0 0.004007 0 0 SNX25 83891 broad.mit.edu 37 4 186231802 186231802 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:186231802G>T uc003ixh.2 + 7 873 c.684G>T c.(682-684)GCG>GCT p.A228A SNX25_uc010ish.2_5'UTR NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 228 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) AAGAAACTGCGGCAATGAAAG 0.478 NA 12 56 1.61879e-10 2.23528e-10 0.001368 1 0 FAT1 2195 broad.mit.edu 37 4 187524791 187524791 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:187524791T>C uc003izf.2 - 19 11077 c.10889A>G c.(10888-10890)CAT>CGT p.H3630R NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3630 Extracellular (Potential).|Cadherin 33. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTGTCTGATATGCACTGTGAT 0.502 Colon(197;1040 2055 4143 4984 49344) NA HNSCC(5;0.00058) 13 39 0 0 0.00245 0 0 NKD2 85409 broad.mit.edu 37 5 1037955 1037955 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:1037955G>T uc003jbt.1 + 10 828 c.823G>T c.(823-825)GGC>TGC p.G275C NKD2_uc010itf.1_3'UTR NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 275 exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GGAGCCCCAGGGCAGGGCCTC 0.652 NA 22 53 7.41877e-09 9.85662e-09 0.001882 1 0 DNAH5 1767 broad.mit.edu 37 5 13820510 13820510 + Silent SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:13820510C>G uc003jfd.2 - 41 6828 c.6786G>C c.(6784-6786)GGG>GGC p.G2262G NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2262 AAA 2 (By similarity).|ATP (Potential). 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) CCCCACTGGGCCCCAGAGTCA 0.532 NA Kartagener_syndrome 20 46 0 0 0.010504 0 0 PRDM9 56979 broad.mit.edu 37 5 23510114 23510114 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:23510114A>T uc003jgo.2 + 4 461 c.279A>T c.(277-279)GAA>GAT p.E93D NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 93 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 ATTCTGATGAAGAATGGACCC 0.363 NA HNSCC(3;0.000094) 22 99 0 0 0.001882 0 0 CDH10 1008 broad.mit.edu 37 5 24487878 24487878 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:24487878C>A uc003jgr.1 - 12 2593 c.2261G>T c.(2260-2262)GGT>GTT p.G754V CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 754 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) TTCAGTAGTACCTGATTCTAA 0.468 NA HNSCC(23;0.051) 48 165 1.00776e-21 1.62747e-21 0.00361 1 0 CDH6 1004 broad.mit.edu 37 5 31299613 31299613 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:31299613G>A uc003jhe.1 + 5 1012 c.686G>A c.(685-687)AGG>AAG p.R229K CDH6_uc003jhd.1_Missense_Mutation_p.R229K NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 229 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 CGAGAAAACAGGGAGCAGTAC 0.448 NA 25 120 0 0 0.005443 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33658393 33658393 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:33658393G>T uc003jia.1 - 7 1249 c.1086C>A c.(1084-1086)GGC>GGA p.G362G ADAMTS12_uc010iuq.1_Silent_p.G362G NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 362 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GGTGAGACAGGCCCAGGGTCT 0.507 NA HNSCC(64;0.19) 38 185 1.59361e-14 2.40109e-14 0.006999 1 0 RXFP3 51289 broad.mit.edu 37 5 33937505 33937505 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:33937505G>C uc003jic.1 + 1 1017 c.660G>C c.(658-660)TGG>TGC p.W220C NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 220 Helical; Name=4; (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 TGTGTGTGTGGATCTGGGCTT 0.677 NA 8 41 0 0 0.00308 0 0 SLC45A2 51151 broad.mit.edu 37 5 33964062 33964062 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:33964062C>A uc003jid.2 - 3 714 c.622G>T c.(622-624)GGA>TGA p.G208* SLC45A2_uc003jie.2_Nonsense_Mutation_p.G208*|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 208 Extracellular (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AACAGTCTTCCCAGCTCCAGA 0.458 Ovarian(31;380 859 8490 22203 49048) NA 18 69 8.00594e-06 9.51234e-06 0.007413 1 0 RANBP3L 202151 broad.mit.edu 37 5 36251594 36251594 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:36251594G>T uc003jkh.2 - 13 1668 c.1175C>A c.(1174-1176)GCC>GAC p.A392D RANBP3L_uc011cow.1_Missense_Mutation_p.A417D NM_145000 NP_659437 Q86VV4 RNB3L_HUMAN RAN binding protein 3-like isoform 2 392 RanBD1. intracellular transport ovary(1) 1 all_lung(31;4.52e-05) Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202) TGTATCTTGGGCACTGGCCTG 0.348 NA 13 48 9.05144e-12 1.28783e-11 0.001855 1 0 MAP1B 4131 broad.mit.edu 37 5 71491553 71491553 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:71491553G>T uc003kbw.3 + 5 2612 c.2371G>T c.(2371-2373)GCC>TCC p.A791S MAP1B_uc010iyw.1_Missense_Mutation_p.A808S|MAP1B_uc010iyx.1_Missense_Mutation_p.A665S|MAP1B_uc010iyy.1_Missense_Mutation_p.A665S NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 791 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) GGAAGGCAAGGCCGCAGAGGC 0.527 Melanoma(17;367 822 11631 31730 47712) NA 10 97 2.17888e-05 2.53002e-05 0.006214 1 0 SV2C 22987 broad.mit.edu 37 5 75597285 75597285 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:75597285A>T uc003kei.1 + 12 2049 c.1915A>T c.(1915-1917)ATG>TTG p.M639L NM_014979 NP_055794 Q496J9 SV2C_HUMAN synaptic vesicle glycoprotein 2C 639 Helical; (Potential). neurotransmitter transport cell junction|integral to membrane|synaptic vesicle membrane transmembrane transporter activity skin(1) 1 all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40) GATGATAGGCATGCTGTGTCT 0.507 NA 9 164 0 0 0.006214 0 0 RGMB 285704 broad.mit.edu 37 5 98128880 98128880 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:98128880G>A uc003knc.2 + 5 1262 c.860G>A c.(859-861)GGC>GAC p.G287D NM_001012761 NP_001012779 Q6NW40 RGMB_HUMAN RGM domain family, member B 246 axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft identical protein binding 0 all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0587) TTTGTGGATGGCACCACCAGT 0.542 NA 3 42 0 0 0.004672 0 0 FBN2 2201 broad.mit.edu 37 5 127681130 127681130 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:127681130T>C uc003kuu.2 - 24 3575 c.3136A>G c.(3136-3138)AAG>GAG p.K1046E FBN2_uc003kuv.2_Missense_Mutation_p.K1013E NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1046 TB 5. 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) TCGTATTCCTTGGTGCCAGGT 0.622 NA 11 118 0 0 0.001855 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531776 140531776 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:140531776C>A uc003lir.2 + 1 1938 c.1938C>A c.(1936-1938)GGC>GGA p.G646G PCDHB6_uc011dah.1_Silent_p.G510G NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 646 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGGACAATGGCGAGCCTCCGC 0.706 NA 17 59 1.55795e-14 2.35367e-14 0.001882 1 0 PCDHB16 57717 broad.mit.edu 37 5 140562573 140562573 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:140562573C>A uc003liv.2 + 1 1594 c.439C>A c.(439-441)CCT>ACT p.P147T PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 147 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGAAAACAGTCCTCTAGGAAC 0.388 NA 15 32 2.32078e-09 3.13529e-09 0.003163 1 0 PCDHB12 56124 broad.mit.edu 37 5 140589769 140589769 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:140589769G>T uc003liz.2 + 1 1479 c.1290G>T c.(1288-1290)AGG>AGT p.R430S PCDHB12_uc011dak.1_Missense_Mutation_p.R93S NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 430 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACCCCCAGGCTAAAAACCG 0.537 NA 14 121 2.61681e-11 3.67662e-11 0.00245 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140711266 140711266 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:140711266G>A uc003lji.1 + 1 1015 c.1015G>A c.(1015-1017)GAT>AAT p.D339N PCDHGA1_uc011dan.1_Missense_Mutation_p.D339N NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 339 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAAGTTTTGGATGTAAATGA 0.433 NA 7 42 0 0 0.00308 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730903 140730903 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:140730903G>T uc003ljo.1 + 1 1076 c.1076G>T c.(1075-1077)GGA>GTA p.G359V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.G359V NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 359 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGACCTTGGAACTGTAATA 0.418 NA 14 15 1.3612e-06 1.65584e-06 0.003163 1 0 SPINK5 11005 broad.mit.edu 37 5 147493975 147493975 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:147493975C>A uc003lox.2 + 21 2011 c.1938C>A c.(1936-1938)TGC>TGA p.C646* SPINK5_uc010jgs.1_Nonsense_Mutation_p.C618*|SPINK5_uc010jgr.2_Nonsense_Mutation_p.C627*|SPINK5_uc003low.2_Nonsense_Mutation_p.C646*|SPINK5_uc003loy.2_Nonsense_Mutation_p.C646* NM_006846 NP_006837 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 isoform 646 Kazal-like 10. anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity skin(2)|ovary(1)|breast(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTTTTCTGCACAAGAGAAA 0.428 NA 7 59 0.00198382 0.00212768 0.001984 1 0 SPARC 6678 broad.mit.edu 37 5 151051154 151051154 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:151051154G>T uc003luh.2 - 4 334 c.310C>A c.(310-312)CCC>ACC p.P104T GM2A_uc011dcs.1_Intron|SPARC_uc003lug.2_Intron|SPARC_uc003lui.2_Missense_Mutation_p.P104T NM_003118 NP_003109 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich 104 Kazal-like. ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(1) 1 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) TCGCCAATGGGGGCTGGGCAG 0.597 NA 8 198 7.48243e-07 9.30337e-07 0.006214 1 0 DOCK2 1794 broad.mit.edu 37 5 169141163 169141163 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:169141163G>T uc003maf.2 + 18 1871 c.1791G>T c.(1789-1791)CGG>CGT p.R597R DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.R89R|DOCK2_uc010jjl.1_Silent_p.R115R NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 597 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCAGCTCCCGGGATGTGTTCT 0.507 NA 15 47 7.93312e-07 9.77722e-07 0.00245 1 0 DOCK2 1794 broad.mit.edu 37 5 169509853 169509853 + Silent SNP G G A rs140198889 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr5:169509853G>A uc003maf.2 + 52 5564 c.5484G>A c.(5482-5484)ACG>ACA p.T1828T DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Silent_p.T1320T|DOCK2_uc003mah.2_Silent_p.T384T NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1828 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGCTGTCCACGGACCTGTGAG 0.522 NA 12 40 0 0 0.001368 0 0 KIF13A 63971 broad.mit.edu 37 6 17837141 17837141 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:17837141C>T uc003ncg.3 - 11 1228 c.1123G>A c.(1123-1125)GAG>AAG p.E375K KIF13A_uc003ncf.2_Missense_Mutation_p.E375K|KIF13A_uc003nch.3_Missense_Mutation_p.E375K|KIF13A_uc003nci.3_Missense_Mutation_p.E375K|KIF13A_uc003ncj.2_Missense_Mutation_p.E51K NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 375 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CTCAGTTTCTCGACTTCCTCC 0.517 NA 30 353 0 0 0.008361 0 0 ZNF187 7741 broad.mit.edu 37 6 28240024 28240024 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:28240024C>T uc011dld.1 + 3 598 c.328C>T c.(328-330)CGG>TGG p.R110W ZNF187_uc011dlc.1_Missense_Mutation_p.R110W|ZNF187_uc003nku.3_Intron|ZNF187_uc003nkw.3_5'UTR|ZNF187_uc011dle.1_5'UTR|ZNF187_uc011dlf.1_Intron|ZNF187_uc011dlg.1_5'UTR NM_001111039 NP_001104509 Q16670 ZN187_HUMAN zinc finger protein 187 isoform b 110 SCAN box. viral reproduction nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GCTCCAGGCCCGGGTGCAGGA 0.567 NA 4 27 0 0 0.009096 0 0 HLA-DRA 3122 broad.mit.edu 37 6 32411567 32411567 + Silent SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:32411567A>T uc003obh.2 + 4 726 c.645A>T c.(643-645)ACA>ACT p.T215T HLA-DRA_uc003obi.2_Silent_p.T190T NM_019111 NP_061984 P01903 DRA_HUMAN major histocompatibility complex, class II, DR 215 Connecting peptide.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity ovary(1)|skin(1) 2 CAGAGACTACAGAGAACGTGG 0.502 NA T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|KaposSarcoma_Familial_Clustering_of 7 235 0 0 0.00308 0 0 ZNF76 7629 broad.mit.edu 37 6 35260373 35260373 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:35260373G>A uc003oki.1 + 10 1179 c.974G>A c.(973-975)CGC>CAC p.R325H ZNF76_uc011dsz.1_Missense_Mutation_p.R325H|ZNF76_uc003okj.1_Missense_Mutation_p.R325H NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 325 C2H2-type 6. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCGGGAAACGCTTCACCGAG 0.488 Esophageal Squamous(52;92 1039 20612 23956 34676) NA 10 49 0 0 0.000978 0 0 LRFN2 57497 broad.mit.edu 37 6 40399507 40399507 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:40399507A>C uc003oph.1 - 2 1811 c.1346T>G c.(1345-1347)GTG>GGG p.V449G NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN leucine rich repeat and fibronectin type III 449 Fibronectin type-III.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane ovary(2)|skin(1) 3 Ovarian(28;0.0418)|Colorectal(47;0.196) GTACATCTTCACCCGGGGTGC 0.597 NA 20 41 0 0 0.008871 0 0 MEP1A 4224 broad.mit.edu 37 6 46794188 46794188 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:46794188G>A uc010jzh.1 + 9 918 c.876G>A c.(874-876)CAG>CAA p.Q292Q MEP1A_uc011dwg.1_Silent_p.Q14Q|MEP1A_uc011dwh.1_Silent_p.Q320Q|MEP1A_uc011dwi.1_Silent_p.Q192Q NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 292 Extracellular (Potential).|MAM. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GGGCCCATCAGGACAGTGCTC 0.493 NA 20 83 0 0 0.008871 0 0 TFAP2D 83741 broad.mit.edu 37 6 50718973 50718973 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:50718973C>A uc003paf.2 + 7 1587 c.1075C>A c.(1075-1077)CTG>ATG p.L359M TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 359 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) TAGATCACCACTGGGATCCTC 0.348 NA 29 36 2.80507e-11 3.9313e-11 0.002445 1 0 COL12A1 1303 broad.mit.edu 37 6 75898142 75898142 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:75898142C>A uc003phs.2 - 8 1099 c.933G>T c.(931-933)GAG>GAT p.E311D COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_5'UTR NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 311 VWFA 1. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGGAGATGATCTCATTCTGAA 0.433 NA 28 69 2.65835e-16 4.08194e-16 0.007291 1 0 UBE2CBP 90025 broad.mit.edu 37 6 83748197 83748197 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:83748197T>A uc003pjp.2 - 5 713 c.605A>T c.(604-606)AAG>ATG p.K202M UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjr.2_Missense_Mutation_p.K170M NM_198920 NP_944602 Q7Z6J8 UB2CB_HUMAN ubiquitin-conjugating enzyme E2C binding 202 cytoplasm ligase activity ovary(1) 1 all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548) BRCA - Breast invasive adenocarcinoma(397;0.0944) GGTATTTGCCTTTGGTTCCTG 0.338 NA 18 55 0 0 0.007413 0 0 UBE2J1 51465 broad.mit.edu 37 6 90039587 90039587 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:90039587C>A uc010kcb.2 - 9 941 c.768G>T c.(766-768)CGG>CGT p.R256R UBE2J1_uc003pnc.2_Silent_p.R256R NM_016021 NP_057105 Q9Y385 UB2J1_HUMAN ubiquitin-conjugating enzyme E2, J1 256 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane ATP binding|ubiquitin-protein ligase activity 0 all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0139) GCTGCTGGGCCCGGCGCTGTC 0.522 NA 30 42 2.47511e-08 3.25763e-08 0.008361 1 0 ZUFSP 221302 broad.mit.edu 37 6 116988239 116988239 + Silent SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:116988239C>G uc003pxf.1 - 2 363 c.117G>C c.(115-117)GTG>GTC p.V39V ZUFSP_uc010kef.1_Intron NM_145062 NP_659499 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 39 intracellular zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) CATCATAATTCACACCTGACA 0.343 NA 26 50 0 0 0.00333 0 0 DCBLD1 285761 broad.mit.edu 37 6 117861841 117861841 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:117861841G>T uc003pxs.2 + 10 1237 c.1112G>T c.(1111-1113)GGT>GTT p.G371V GOPC_uc003pxq.1_Intron|DCBLD1_uc003pxr.1_Missense_Mutation_p.G371V|DCBLD1_uc003pxt.1_Missense_Mutation_p.G26V NM_173674 NP_775945 Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 371 F5/8 type C.|Extracellular (Potential). cell adhesion integral to membrane ovary(1) 1 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) GTGTTTCAGGGTAACTCTAAC 0.428 NA 12 100 2.27111e-07 2.8877e-07 0.001368 1 0 ENPP1 5167 broad.mit.edu 37 6 132211593 132211593 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:132211593C>T uc011ecf.1 + 25 2740 c.2720C>T c.(2719-2721)CCA>CTA p.P907L NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 907 Nuclease.|Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AGAAAAGAGCCAGTTTCAGAC 0.383 Colon(104;336 1535 5856 11019 33782) NA 23 49 0 0 0.00333 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599628 136599628 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:136599628G>A uc003qgx.1 - 4 644 c.391C>T c.(391-393)CGG>TGG p.R131W BCLAF1_uc003qgw.1_Missense_Mutation_p.R131W|BCLAF1_uc003qgy.1_Missense_Mutation_p.R129W|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R129W NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 131 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTATATGACCGGCGAGATCTG 0.453 Colon(142;1534 1789 5427 7063 28491) NA 50 356 0 0 0.00361 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138199923 138199923 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:138199923G>T uc003qhr.2 + 7 1407 c.1341G>T c.(1339-1341)GCG>GCT p.A447A TNFAIP3_uc003qhs.2_Silent_p.A447A NM_006290 NP_006281 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 447 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(22) haematopoietic_and_lymphoid_tissue(133)|lung(3)|ovary(1) 137 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) AGCCCTTGGCGTGGAACCCTG 0.627 GBM(130;153 1739 22295 28918 47987) NA D|N|F marginal zone B-cell lymphomas|Hodgkin's lymphoma|primary mediastinal B cell lymphoma 17 34 4.14922e-12 5.97913e-12 0.004007 1 0 ECT2L 345930 broad.mit.edu 37 6 139167715 139167715 + Silent SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:139167715A>G uc003qif.1 + 6 907 c.804A>G c.(802-804)TCA>TCG p.S268S ECT2L_uc011edq.1_Silent_p.S199S NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 268 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 CTTTATTATCAAAGAAAAATT 0.368 NA 10 148 0 0 0.006214 0 0 IGF2R 3482 broad.mit.edu 37 6 160494947 160494947 + Silent SNP C C T rs140485195 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:160494947C>T uc003qta.2 + 35 5254 c.5106C>T c.(5104-5106)CAC>CAT p.H1702H NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1702 Lumenal (Potential).|12. receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATCCCATGCACGGAGTGCCCT 0.478 NA 7 39 0 0 0.001984 0 0 PDE10A 10846 broad.mit.edu 37 6 165827065 165827065 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr6:165827065C>G uc003qun.2 - 14 1413 c.1172G>C c.(1171-1173)AGT>ACT p.S391T PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Missense_Mutation_p.S321T|PDE10A_uc003quo.2_Missense_Mutation_p.S401T NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 391 GAF 2. platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) AGAGAAGGCACTGCCACTGAT 0.443 Esophageal Squamous(22;308 615 5753 12038 40624) NA 18 43 0 0 0.006122 0 0 DGKB 1607 broad.mit.edu 37 7 14188795 14188795 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:14188795G>T uc003ssz.2 - 25 2563 c.2376C>A c.(2374-2376)TGC>TGA p.C792* DGKB_uc011jxt.1_Nonsense_Mutation_p.C773* NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 792 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) TGACGAGGGAGCAGAATAAAC 0.363 NA 62 140 2.26907e-38 3.89974e-38 0.00361 1 0 FKBP9 11328 broad.mit.edu 37 7 33014277 33014277 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:33014277G>A uc003tdh.2 + 2 451 c.270G>A c.(268-270)CTG>CTA p.L90L AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_Intron|FKBP9_uc011kal.1_Silent_p.L143L|FKBP9_uc003tdg.2_Silent_p.L90L|FKBP9_uc010kwm.2_5'UTR NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 90 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) AAGGACAGCTGATCACAGGGA 0.463 NA 21 406 0 0 0.002445 0 0 TBX20 57057 broad.mit.edu 37 7 35271187 35271187 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:35271187C>T uc011kas.1 - 6 830 c.819G>A c.(817-819)ACG>ACA p.T273T NM_001077653 NP_001071121 Q9UMR3 TBX20_HUMAN T-box transcription factor TBX20 273 T-box. nucleus DNA binding central_nervous_system(1) 1 TTTTCAGCTTCGTTATCTGGA 0.373 NA 14 41 0 0 0.003163 0 0 HECW1 23072 broad.mit.edu 37 7 43590144 43590144 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:43590144G>A uc003tid.1 + 27 4954 c.4349G>A c.(4348-4350)CGC>CAC p.R1450H HECW1_uc011kbi.1_Missense_Mutation_p.R1416H NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1450 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CGGGTGGAGCGCGGCGTGGTA 0.627 NA 9 20 0 0 0.004482 0 0 HECW1 23072 broad.mit.edu 37 7 43594285 43594285 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:43594285G>A uc003tid.1 + 29 5210 c.4605G>A c.(4603-4605)ACG>ACA p.T1535T HECW1_uc011kbi.1_Silent_p.T1501T NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1535 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGTTTGTCACGGGAACATCCA 0.557 NA 22 41 0 0 0.00278 0 0 TBRG4 9238 broad.mit.edu 37 7 45145176 45145176 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:45145176G>T uc003tmv.2 - 3 725 c.599C>A c.(598-600)TCG>TAG p.S200* TBRG4_uc003tmu.2_Nonsense_Mutation_p.S25*|TBRG4_uc003tmw.2_Nonsense_Mutation_p.S200*|TBRG4_uc003tmx.2_Nonsense_Mutation_p.S200*|TBRG4_uc011kcd.1_Nonsense_Mutation_p.S211*|SNORA5A_uc003tmy.2_5'Flank|SNORA5C_uc003tmz.1_5'Flank NM_004749 NP_004740 Q969Z0 TBRG4_HUMAN cell cycle progression 2 protein isoform 1 200 apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation mitochondrion ATP binding|protein binding|protein kinase activity 0 CAGCTCCTGCGAGTGCTGCTC 0.582 NA 13 254 7.03913e-09 9.37438e-09 0.001368 1 0 LOC643955 643955 broad.mit.edu 37 7 62753165 62753165 + Missense_Mutation SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:62753165T>C uc011kdj.1 - 3 271 c.203A>G c.(202-204)GAG>GGG p.E68G NR_003952 Homo sapiens cDNA clone IMAGE:30377995, containing frame-shift errors. 0 GATGCCCTGCTCTGGCTGAAG 0.368 NA 7 284 0 0 0.000978 0 0 AUTS2 26053 broad.mit.edu 37 7 70231185 70231185 + Silent SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:70231185C>G uc003tvw.3 + 9 2297 c.1554C>G c.(1552-1554)CCC>CCG p.P518P AUTS2_uc003tvx.3_Silent_p.P518P|AUTS2_uc011keg.1_5'Flank NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 518 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) GCCCTCCGCCCTACCTGCGGA 0.453 NA 19 65 0 0 0.001882 0 0 POM121C 100101267 broad.mit.edu 37 7 75052311 75052311 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:75052311G>A uc003udk.3 - 13 2109 c.1224C>T c.(1222-1224)GCC>GCT p.A408A NM_001099415 NP_001092885 A8CG34 P121C_HUMAN POM121 membrane glycoprotein (rat)-like 650 Pore side (Potential). mRNA transport|protein transport|transmembrane transport endoplasmic reticulum membrane|nuclear membrane|nuclear pore protein binding 0 TGGTGTCAGTGGCTGGTACCA 0.627 NA 20 53 0 0 0.005443 0 0 CROT 54677 broad.mit.edu 37 7 87011309 87011309 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:87011309G>T uc003uit.2 + 11 1307 c.1062G>T c.(1060-1062)AAG>AAT p.K354N CROT_uc003uiu.2_Missense_Mutation_p.K382N NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 354 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) GAAGATGGAAGGTATGTTTGA 0.313 NA 12 40 2.80697e-09 3.78302e-09 0.000978 1 0 COL1A2 1278 broad.mit.edu 37 7 94054501 94054501 + Nonsense_Mutation SNP G G T rs72659308 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:94054501G>T uc003ung.1 + 42 3217 c.2746G>T c.(2746-2748)GGA>TGA p.G916* COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 916 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) GGGTAGTCCTGGAGTCAACGG 0.507 NA HNSCC(75;0.22) 22 67 2.21704e-12 3.2363e-12 0.00278 1 0 COL1A2 1278 broad.mit.edu 37 7 94057055 94057055 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:94057055C>A uc003ung.1 + 49 3855 c.3384C>A c.(3382-3384)CTC>CTA p.L1128L COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1128 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CACCTTCTCTCAGACCCAAGG 0.522 NA HNSCC(75;0.22) 27 100 7.07758e-08 9.16498e-08 0.004656 1 0 ASNS 440 broad.mit.edu 37 7 97481664 97481664 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:97481664G>A uc003uot.3 - 13 2099 c.1593C>T c.(1591-1593)GAC>GAT p.D531D ASNS_uc011kin.1_Silent_p.D448D|ASNS_uc003uou.3_Silent_p.D531D|ASNS_uc003uov.3_Silent_p.D531D|ASNS_uc011kio.1_Silent_p.D510D|ASNS_uc003uow.3_Silent_p.D510D|ASNS_uc003uox.3_Silent_p.D448D NM_133436 NP_597680 P08243 ASNS_HUMAN asparagine synthetase 531 Asparagine synthetase. cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle cytosol|soluble fraction asparagine synthase (glutamine-hydrolyzing) activity|ATP binding ovary(1) 1 all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369) Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGCTCAGCCAGTCAGCCCGGC 0.507 Melanoma(70;6 1280 3108 3799 51123)|GBM(6;275 291 425 9929 27738) NA 22 72 0 0 0.001882 0 0 TRRAP 8295 broad.mit.edu 37 7 98602013 98602013 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:98602013A>T uc003upp.2 + 67 10677 c.10468A>T c.(10468-10470)ACG>TCG p.T3490S TRRAP_uc011kis.1_Missense_Mutation_p.T3461S|TRRAP_uc003upr.2_Missense_Mutation_p.T3196S NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3490 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCCAAAGCCAACGCATTATTA 0.532 NA 26 93 0 0 0.005443 0 0 PILRB 29990 broad.mit.edu 37 7 99956683 99956683 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:99956683C>T uc003uuk.2 + 16 2931 c.435C>T c.(433-435)ACC>ACT p.T145T PILRB_uc003uul.2_Nonsense_Mutation_p.Q76*|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.T145T NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 145 Extracellular (Potential). activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCAAGGGGACCAAACTCACCA 0.567 NA 20 48 0 0 0.007413 0 0 ZAN 7455 broad.mit.edu 37 7 100364781 100364781 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:100364781C>T uc003uwj.2 + 25 4926 c.4761C>T c.(4759-4761)AAC>AAT p.N1587N ZAN_uc003uwk.2_Silent_p.N1587N|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Silent_p.N164N NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1587 Extracellular (Potential).|VWFD 2. binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) GCGCCACCAACGAGAACCGCG 0.577 NA 5 79 0 0 0.000602 0 0 CDHR3 222256 broad.mit.edu 37 7 105662683 105662683 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:105662683G>T uc003vdl.3 + 14 1973 c.1865G>T c.(1864-1866)GGT>GTT p.G622V CDHR3_uc003vdk.2_Intron|CDHR3_uc003vdm.3_Missense_Mutation_p.G609V|CDHR3_uc011klt.1_Missense_Mutation_p.G534V|CDHR3_uc003vdn.2_Intron NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 622 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 CCCAATGCTGGTTCCAATGTC 0.428 NA 43 141 1.15505e-17 1.7932e-17 0.009718 1 0 LAMB4 22798 broad.mit.edu 37 7 107752392 107752392 + Splice_Site SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:107752392C>A uc010ljo.1 - 4 277 c.193_splice c.e4-1 p.G65_splice LAMB4_uc003vey.2_Splice_Site_p.G65_splice NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TTTGTTCCCCCTGGAAAACAC 0.338 NA 18 71 0.00074312 0.000809367 0.006122 1 0 LAMB4 22798 broad.mit.edu 37 7 107756565 107756565 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:107756565C>A uc010ljo.1 - 3 160 c.76G>T c.(76-78)GGT>TGT p.G26C LAMB4_uc003vey.2_Missense_Mutation_p.G26C NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 26 Laminin N-terminal. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 TGACAGGCACCCCTGTTGCAG 0.532 NA 25 109 2.44723e-14 3.67739e-14 0.004656 1 0 C7orf58 79974 broad.mit.edu 37 7 120704291 120704291 + Splice_Site SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:120704291G>T uc003vjq.3 + 5 988 c.541_splice c.e5-1 p.A181_splice C7orf58_uc003vjr.1_Splice_Site_p.A181_splice|C7orf58_uc003vjs.3_Splice_Site_p.A181_splice|C7orf58_uc003vjt.3_Splice_Site NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) ATTCCTTTCAGGCAAACAGAT 0.393 NA 30 94 5.8336e-16 8.88478e-16 0.003271 1 0 ZYX 7791 broad.mit.edu 37 7 143080351 143080351 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:143080351G>T uc003wcw.2 + 5 1114 c.959G>T c.(958-960)AGG>ATG p.R320M ZYX_uc011ktd.1_Missense_Mutation_p.R163M|ZYX_uc003wcx.2_Missense_Mutation_p.R320M|ZYX_uc011kte.1_Missense_Mutation_p.R289M|ZYX_uc011ktf.1_Missense_Mutation_p.R163M NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 320 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) GCCCAGCAGAGGGAGAAGCCC 0.592 NA 29 73 1.32181e-22 2.14698e-22 0.007291 1 0 ZYX 7791 broad.mit.edu 37 7 143080397 143080397 + Silent SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:143080397G>C uc003wcw.2 + 5 1160 c.1005G>C c.(1003-1005)CCG>CCC p.P335P ZYX_uc011ktd.1_Silent_p.P178P|ZYX_uc003wcx.2_Silent_p.P335P|ZYX_uc011kte.1_Silent_p.P304P|ZYX_uc011ktf.1_Silent_p.P178P NM_001010972 NP_001010972 Q15942 ZYX_HUMAN zyxin 335 cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber protein binding|zinc ion binding 0 Melanoma(164;0.205) TGCCCCCACCGGCTCAGAACC 0.617 NA 15 48 0 0 0.00245 0 0 OR2A12 346525 broad.mit.edu 37 7 143792543 143792543 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:143792543G>T uc011kty.1 + 1 343 c.343G>T c.(343-345)GTG>TTG p.V115L NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TCTGATTTTGGTGATGATGTG 0.433 NA 49 116 1.61004e-24 2.68499e-24 0.00361 1 0 OR2A14 135941 broad.mit.edu 37 7 143826593 143826593 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:143826593C>T uc011kua.1 + 1 388 c.388C>T c.(388-390)CGT>TGT p.R130C NM_001001659 NP_001001659 Q96R47 O2A14_HUMAN olfactory receptor, family 2, subfamily A, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Melanoma(164;0.0783) CCACCCCTTACGTTACAATAG 0.498 NA 12 268 0 0 0.000978 0 0 ARHGEF5 7984 broad.mit.edu 37 7 144077006 144077006 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:144077006G>T uc003wel.2 + 15 4769 c.4651G>T c.(4651-4653)GTG>TTG p.V1551L ARHGEF5_uc003wem.2_Missense_Mutation_p.V352L NM_005435 NP_005426 Q12774 ARHG5_HUMAN rho guanine nucleotide exchange factor 5 1551 SH3. intracellular signal transduction|regulation of Rho protein signal transduction intracellular GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity skin(2) 2 Melanoma(164;0.14) GCTGGAGGGCGTGAGGCTCTC 0.567 NA 7 241 1.12685e-05 1.33324e-05 0.004482 1 0 GIMAP8 155038 broad.mit.edu 37 7 150163825 150163825 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:150163825C>A uc003whj.2 + 2 369 c.39C>A c.(37-39)CTC>CTA p.L13L NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 13 Poly-Leu. endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AACTGCGGCTCCTCCTCCTGG 0.498 NA 32 70 1.74807e-11 2.4746e-11 0.002096 1 0 NCAPG2 54892 broad.mit.edu 37 7 158468339 158468339 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:158468339C>A uc003wnv.1 - 12 1301 c.1156G>T c.(1156-1158)GAA>TAA p.E386* NCAPG2_uc010lqu.1_Nonsense_Mutation_p.E178*|NCAPG2_uc003wnw.1_Intron|NCAPG2_uc003wnx.1_Nonsense_Mutation_p.E386*|NCAPG2_uc011kwe.1_Nonsense_Mutation_p.E386* NM_017760 NP_060230 Q86XI2 CNDG2_HUMAN leucine zipper protein 5 386 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding ovary(1)|breast(1)|kidney(1) 3 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) TAAGGATCTTCTAAAAGGCTC 0.443 NA 14 47 3.27435e-08 4.26957e-08 0.00245 1 0 ZNF596 169270 broad.mit.edu 37 8 195623 195623 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:195623C>A uc003wot.2 + 6 1064 c.776C>A c.(775-777)GCC>GAC p.A259D ZNF596_uc003wou.2_Missense_Mutation_p.A158D|ZNF596_uc003wov.2_Missense_Mutation_p.A259D|ZNF596_uc003wow.2_Missense_Mutation_p.A259D NM_173539 NP_775810 Q8TC21 ZN596_HUMAN zinc finger protein 596 259 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242) Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702) TGTGGGAAAGCCTTCAGTAAA 0.418 NA 10 75 0.000442599 0.000487727 0.006214 1 0 DLGAP2 9228 broad.mit.edu 37 8 1497404 1497404 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:1497404G>C uc003wpl.2 + 2 642 c.545G>C c.(544-546)CGG>CCG p.R182P DLGAP2_uc003wpm.2_Missense_Mutation_p.R182P NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 261 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCGGACGGCCGGGCGGACGAC 0.667 NA 3 20 0 0 0.004672 0 0 DLGAP2 9228 broad.mit.edu 37 8 1616686 1616686 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:1616686G>T uc003wpl.2 + 6 1859 c.1762G>T c.(1762-1764)GAC>TAC p.D588Y DLGAP2_uc003wpm.2_Missense_Mutation_p.D588Y NM_004745 NP_004736 Q9P1A6 DLGP2_HUMAN discs large-associated protein 2 667 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding 0 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GGACAGCCTGGACAGCAACAA 0.667 NA 7 5 2.7689e-08 3.62732e-08 0.001984 1 0 MYOM2 9172 broad.mit.edu 37 8 2026987 2026987 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:2026987G>C uc003wpx.3 + 12 1573 c.1435G>C c.(1435-1437)GAC>CAC p.D479H MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 479 muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) GGCTGCACTTGACCCCTTGGA 0.527 NA 8 210 0 0 0.00308 0 0 GATA4 2626 broad.mit.edu 37 8 11606502 11606502 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:11606502G>T uc003wuc.2 + 3 1245 c.691G>T c.(691-693)GAT>TAT p.D231Y GATA4_uc003wub.1_Missense_Mutation_p.D25Y|GATA4_uc011kxc.1_Missense_Mutation_p.D232Y NM_002052 NP_002043 P43694 GATA4_HUMAN GATA binding protein 4 231 GATA-type 1. atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development nucleoplasm activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1) 1 all_epithelial(15;0.0839) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.199) CTGGAGGCGAGATGGGACGGG 0.577 NA 12 143 0.00010058 0.000113506 0.001368 1 0 C8orf80 389643 broad.mit.edu 37 8 27922222 27922222 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:27922222G>A uc003xgm.3 - 7 881 c.738C>T c.(736-738)GAC>GAT p.D246D NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 246 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GGATGTAGGGGTCCAGCTTGA 0.562 NA 27 30 0 0 0.005443 0 0 PPP2CB 5516 broad.mit.edu 37 8 30669865 30669865 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:30669865C>G uc003xik.2 - 2 308 c.73G>C c.(73-75)GAG>CAG p.E25Q NM_004156 NP_004147 P62714 PP2AB_HUMAN protein phosphatase 2, catalytic subunit, beta 25 protein dephosphorylation chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole metal ion binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114) Vitamin E(DB00163) ACTTGGTTCTCGTTCAGCTGC 0.642 NA 3 16 0 0 0.009096 0 0 TEX15 56154 broad.mit.edu 37 8 30706087 30706087 + Nonsense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:30706087A>T uc003xil.2 - 1 447 c.447T>A c.(445-447)TGT>TGA p.C149* NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 149 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) CTTGGTCCTTACATTGCCCTG 0.433 NA 35 63 0 0 0.002836 0 0 DUSP26 78986 broad.mit.edu 37 8 33451145 33451145 + Silent SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:33451145C>G uc003xjp.2 - 3 675 c.342G>C c.(340-342)CTG>CTC p.L114L DUSP26_uc003xjq.2_Silent_p.L114L NM_024025 NP_076930 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 114 Tyrosine-protein phosphatase. Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CCTCAACACCCAGGTAGCGGA 0.662 NA 21 39 0 0 0.008871 0 0 UNC5D 137970 broad.mit.edu 37 8 35631950 35631950 + Missense_Mutation SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:35631950A>G uc003xjr.1 + 16 2940 c.2612A>G c.(2611-2613)AAA>AGA p.K871R UNC5D_uc003xjs.1_Missense_Mutation_p.K866R|UNC5D_uc003xju.1_Missense_Mutation_p.K447R NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 871 Death.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CCCAATGCCAAAGGCAAGGAC 0.468 NA 9 63 0 0 0.004482 0 0 PRDM14 63978 broad.mit.edu 37 8 70971045 70971045 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:70971045C>A uc003xym.2 - 6 1418 c.1216G>T c.(1216-1218)GGG>TGG p.G406W NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 406 C2H2-type 1; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) AATACCTTCCCACATCTTTCA 0.438 NSCLC(129;99 1813 5906 40656 46114) NA 13 71 0.00244969 0.00262234 0.00245 1 0 ZFHX4 79776 broad.mit.edu 37 8 77765759 77765759 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:77765759C>T uc003yav.2 + 10 6854 c.6467C>T c.(6466-6468)ACG>ATG p.T2156M ZFHX4_uc003yau.1_Missense_Mutation_p.T2201M|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2156M NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2156 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CCTCCTATAACGGTTTTAGAA 0.358 NA HNSCC(33;0.089) 10 229 0 0 0.001368 0 0 ZFHX4 79776 broad.mit.edu 37 8 77776250 77776250 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:77776250G>T uc003yav.2 + 11 10552 c.10165G>T c.(10165-10167)GAC>TAC p.D3389Y NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3385 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTTTGATTGACCCACAAGA 0.448 NA HNSCC(33;0.089) 10 35 3.07112e-06 3.6801e-06 0.000978 1 0 SLC10A5 347051 broad.mit.edu 37 8 82606414 82606415 + Missense_Mutation DNP CC CC AA TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:82606414_82606415CC>AA uc011lfs.1 - 1 793_794 c.793_794GG>TT c.(793-795)GGT>TTT p.G265F NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 265 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity 0 ATGGAATGTACCTGACAACCCT 0.351 NA 18 85 0 0 0.004672 0 0 REXO1L1 254958 broad.mit.edu 37 8 86573790 86573790 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:86573790C>A uc011lfw.1 - 1 1479 c.1433G>T c.(1432-1434)TGC>TTC p.C478F NM_172239 NP_758439 Q8IX06 GOR_HUMAN exonuclease GOR 646 cytoplasm|nucleus exonuclease activity|nucleic acid binding 0 CAGCTGCAGGCAGGCGCTTGC 0.682 NA 7 134 8.12818e-05 9.24704e-05 0.001984 1 0 SPAG1 6674 broad.mit.edu 37 8 101196189 101196189 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:101196189A>T uc003yjh.1 + 6 580 c.494A>T c.(493-495)GAC>GTC p.D165V SPAG1_uc003yjg.1_Missense_Mutation_p.D165V|SPAG1_uc003yji.1_Missense_Mutation_p.D165V NM_172218 NP_757367 Q07617 SPAG1_HUMAN sperm associated antigen 1 165 single fertilization cytoplasm GTP binding|hydrolase activity ovary(2)|central_nervous_system(1) 3 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) TTAAGATTTGACGTGGAGAAG 0.279 NA 20 51 0 0 0.010504 0 0 SNX31 169166 broad.mit.edu 37 8 101612589 101612589 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:101612589G>T uc003yjr.2 - 9 913 c.762C>A c.(760-762)GAC>GAA p.D254E SNX31_uc011lha.1_Missense_Mutation_p.D49E|SNX31_uc011lhb.1_Missense_Mutation_p.D155E NM_152628 NP_689841 Q8N9S9 SNX31_HUMAN sorting nexin 31 254 cell communication|protein transport phosphatidylinositol binding 0 all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125) Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206) TTGTTTGACTGTCTTCTTTCT 0.368 NA 6 132 3.59834e-05 4.16104e-05 0.001168 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110431379 110431379 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:110431379G>T uc003yne.2 + 22 2518 c.2414G>T c.(2413-2415)GGG>GTG p.G805V NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 805 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AAATACACTGGGACAAATGTT 0.378 NA HNSCC(38;0.096) 10 60 1.61879e-10 2.23528e-10 0.001368 1 0 CSMD3 114788 broad.mit.edu 37 8 113668560 113668560 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:113668560C>A uc003ynu.2 - 18 2986 c.2827G>T c.(2827-2829)GAA>TAA p.E943* CSMD3_uc003yns.2_Nonsense_Mutation_p.E215*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.E903*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.E839* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 943 Extracellular (Potential).|CUB 5. 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 TAATTCAGTTCAGTCTGAAAT 0.338 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 10 67 7.48243e-07 9.30337e-07 0.006214 1 0 FER1L6 654463 broad.mit.edu 37 8 125076699 125076699 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:125076699C>A uc003yqw.2 + 26 3646 c.3440C>A c.(3439-3441)CCC>CAC p.P1147H uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1147 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ACAGTGGTGCCCGACTCTGCC 0.607 NA 46 71 4.75955e-12 6.84109e-12 0.00361 1 0 FAM49B 51571 broad.mit.edu 37 8 130891660 130891660 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:130891660C>A uc003yss.2 - 6 597 c.48G>T c.(46-48)GGG>GGT p.G16G FAM49B_uc003yst.2_Silent_p.G16G|FAM49B_uc003ysu.2_Silent_p.G16G|FAM49B_uc003ysv.2_Intron|FAM49B_uc003ysw.2_Silent_p.G16G|FAM49B_uc003ysx.2_Silent_p.G16G|FAM49B_uc003ysy.1_Silent_p.G16G NM_016623 NP_057707 Q9NUQ9 FA49B_HUMAN hypothetical protein LOC51571 16 0 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) AAAAATTTGGCCCCTGCTCAA 0.358 NA 9 66 2.17888e-05 2.53002e-05 0.006214 1 0 LRRC6 23639 broad.mit.edu 37 8 133650267 133650267 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:133650267G>A uc003ytk.2 - 4 417 c.343C>T c.(343-345)CTG>TTG p.L115L LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 115 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) AGCTCCTTCAGATGGATATTG 0.423 NA 27 64 0 0 0.004656 0 0 FAM83H 286077 broad.mit.edu 37 8 144811484 144811484 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:144811484C>T uc003yzk.2 - 3 526 c.457G>A c.(457-459)GTG>ATG p.V153M FAM83H_uc010mfk.1_5'Flank NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 153 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCCATCACCACGGCCACCACC 0.647 NA 5 61 0 0 0.000602 0 0 AQP7 364 broad.mit.edu 37 9 33386153 33386153 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:33386153G>A uc003zst.2 - 6 619 c.447C>T c.(445-447)ACC>ACT p.T149T SUGT1P1_uc010mjq.1_Intron|AQP7_uc003zsu.1_Silent_p.T92T|AQP7_uc010mjs.2_Silent_p.T57T|AQP7_uc010mjt.2_Silent_p.T57T|AQP7_uc011lnx.1_Silent_p.T149T|AQP7_uc011lny.1_Silent_p.T148T|AQP7_uc003zss.3_Silent_p.T57T|AQP7_uc011lnz.1_Silent_p.T57T|AQP7_uc011loa.1_Intron NM_001170 NP_001161 O14520 AQP7_HUMAN aquaporin 7 149 Extracellular (Potential). excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity 0 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CGACGGGACCGGTCACCATCA 0.577 NA 12 87 0 0 0.00245 0 0 ARID3C 138715 broad.mit.edu 37 9 34627776 34627776 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:34627776C>A uc011lon.1 - 1 236 c.236G>T c.(235-237)GGG>GTG p.G79V NM_001017363 NP_001017363 A6NKF2 ARI3C_HUMAN AT rich interactive domain 3C (BRIGHT- like) 79 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(1) 1 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.175) GCCCTGGGCCCCTGGACGGCT 0.398 NA 17 29 1.67942e-08 2.21557e-08 0.006122 1 0 FAM75A6 389730 broad.mit.edu 37 9 43627706 43627706 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:43627706G>A uc011lrb.1 - 4 1010 c.981C>T c.(979-981)GTC>GTT p.V327V NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 327 integral to membrane 0 GTATCCCCACGACATTCTGGC 0.458 NA 24 342 0 0 0.002299 0 0 TRPM6 140803 broad.mit.edu 37 9 77377953 77377953 + Nonsense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:77377953G>A uc004ajl.1 - 26 3872 c.3634C>T c.(3634-3636)CAG>TAG p.Q1212* TRPM6_uc004ajk.1_Nonsense_Mutation_p.Q1207*|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Nonsense_Mutation_p.Q168* NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1212 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GAGAGATCCTGCAGGTGTCCC 0.468 NA 24 114 0 0 0.004656 0 0 FLJ46321 389763 broad.mit.edu 37 9 84605870 84605870 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:84605870C>T uc004amn.2 + 4 532 c.485C>T c.(484-486)TCG>TTG p.S162L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 162 integral to membrane 0 TTGGCTTCTTCGGCTTCTGCG 0.562 NA 17 69 0 0 0.006122 0 0 FLJ46321 389763 broad.mit.edu 37 9 84609108 84609108 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:84609108C>A uc004amn.2 + 4 3770 c.3723C>A c.(3721-3723)TCC>TCA p.S1241S NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN hypothetical protein LOC389763 1241 integral to membrane 0 TGACTAATTCCCAGGGCATCT 0.522 NA 55 258 1.78197e-24 2.96291e-24 0.00361 1 0 KIAA1529 57653 broad.mit.edu 37 9 100056343 100056343 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:100056343C>T uc011lut.1 + 11 974 c.201C>T c.(199-201)GCC>GCT p.A67A KIAA1529_uc011lur.1_RNA|KIAA1529_uc004axe.1_Silent_p.A67A|KIAA1529_uc011lus.1_Intron|KIAA1529_uc010msm.1_RNA NM_020893 NP_065944 hypothetical protein LOC57653 ovary(4)|large_intestine(2)|skin(1) 7 Acute lymphoblastic leukemia(62;0.154) GGCTGATTGCCCGCATCGACA 0.572 NA 6 119 0 0 0.001168 0 0 GABBR2 9568 broad.mit.edu 37 9 101148007 101148007 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:101148007C>T uc004ays.2 - 11 1733 c.1577G>A c.(1576-1578)GGA>GAA p.G526E NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 526 Helical; Name=2; (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) GAGCATCCCTCCAAGGATGAT 0.393 NA 6 71 0 0 0.001168 0 0 COL15A1 1306 broad.mit.edu 37 9 101797356 101797356 + Missense_Mutation SNP C C T rs142089094 byFrequency TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:101797356C>T uc004azb.1 + 18 2346 c.2140C>T c.(2140-2142)CCT>TCT p.P714S NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 714 Triple-helical region 2 (COL2). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) AGCTGGCCCTCCTGGGGTCAT 0.612 NA 12 102 0 0 0.001855 0 0 TGFBR1 7046 broad.mit.edu 37 9 101907147 101907147 + Silent SNP A A G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:101907147A>G uc004azc.2 + 6 1183 c.1107A>G c.(1105-1107)CCA>CCG p.P369P TGFBR1_uc004azd.2_Silent_p.P292P|TGFBR1_uc011lvc.1_Silent_p.P300P NM_004612 NP_004603 P36897 TGFR1_HUMAN transforming growth factor, beta receptor I 369 Protein kinase.|Cytoplasmic (Potential). activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(62;0.0559) ATATTGCTCCAAACCACAGAG 0.343 NA 7 79 0 0 0.001984 0 0 ALDOB 229 broad.mit.edu 37 9 104189909 104189909 + Nonsense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:104189909G>C uc004bbk.2 - 5 477 c.395C>G c.(394-396)TCA>TGA p.S132* NM_000035 NP_000026 P05062 ALDOB_HUMAN aldolase B, fructose-bisphosphate 132 fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly centriolar satellite|cytosol ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) ACAGCGCTCTGAGAGGCCATC 0.512 NA 13 52 0 0 0.001855 0 0 ABCA1 19 broad.mit.edu 37 9 107589339 107589339 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:107589339C>T uc004bcl.2 - 16 2540 c.2227G>A c.(2227-2229)GCC>ACC p.A743T NM_005502 NP_005493 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A member 1 743 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GCCAGGTTGGCTCTGGAGAAG 0.562 NA 15 65 0 0 0.004007 0 0 OR1N2 138882 broad.mit.edu 37 9 125315473 125315473 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:125315473T>A uc011lyx.1 + 1 25 c.25T>A c.(25-27)TCA>ACA p.S9T NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 TCTGCGCAGATCACACGAACT 0.333 NA 34 92 0 0 0.002445 0 0 FIBCD1 84929 broad.mit.edu 37 9 133799190 133799190 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:133799190G>T uc004bzz.2 - 4 1035 c.790C>A c.(790-792)CAC>AAC p.H264N FIBCD1_uc011mcc.1_Missense_Mutation_p.H264N NM_032843 NP_116232 Q8N539 FBCD1_HUMAN fibrinogen C domain containing 1 264 Fibrinogen C-terminal.|Extracellular (Potential). signal transduction extracellular space|integral to membrane chitin binding|metal ion binding|receptor binding 0 all_hematologic(7;0.0028) OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019) GCCGGGTAGTGGGTGGGAAAG 0.687 NA 15 57 2.31682e-05 2.68465e-05 0.003163 1 0 LAMC3 10319 broad.mit.edu 37 9 133962991 133962991 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:133962991G>C uc004caa.1 + 26 4457 c.4359G>C c.(4357-4359)GAG>GAC p.E1453D LAMC3_uc010mze.1_Missense_Mutation_p.E141D NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1453 Domain II and I.|Potential. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GCAGACAGGAGCTGGAGGAAG 0.662 NA 17 55 0 0 0.00499 0 0 C9orf171 389799 broad.mit.edu 37 9 135357700 135357700 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:135357700G>T uc004cbn.2 + 2 247 c.199G>T c.(199-201)GCC>TCC p.A67S C9orf171_uc004cbo.2_Intron NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 67 ovary(4)|large_intestine(1) 5 TTCGTAGGCTGCCGGCCCGGC 0.512 NA 21 68 1.2644e-06 1.54814e-06 0.010504 1 0 C9orf171 389799 broad.mit.edu 37 9 135374112 135374112 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:135374112T>A uc004cbn.2 + 3 382 c.334T>A c.(334-336)TAC>AAC p.Y112N C9orf171_uc004cbo.2_Missense_Mutation_p.Y76N NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 112 ovary(4)|large_intestine(1) 5 GGAAAGAAGCTACAGTCTGCC 0.547 NA 7 20 0 0 0.001984 0 0 SARDH 1757 broad.mit.edu 37 9 136582532 136582532 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:136582532C>A uc004cep.3 - 8 1200 c.1066G>T c.(1066-1068)GTG>TTG p.V356L SARDH_uc004ceo.2_Missense_Mutation_p.V356L|SARDH_uc011mdn.1_Missense_Mutation_p.V356L|SARDH_uc011mdo.1_Missense_Mutation_p.V188L NM_001134707 NP_001128179 Q9UL12 SARDH_HUMAN sarcosine dehydrogenase precursor 356 glycine catabolic process mitochondrial matrix aminomethyltransferase activity|sarcosine dehydrogenase activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05) TGGGTGAACACCTCCCAGTCC 0.597 NA 11 57 6.40141e-05 7.32707e-05 0.000978 1 0 EHMT1 79813 broad.mit.edu 37 9 140638453 140638453 + Missense_Mutation SNP G G T rs143891279 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr9:140638453G>T uc011mfc.1 + 6 1118 c.1081G>T c.(1081-1083)GGC>TGC p.G361C EHMT1_uc004coa.2_Missense_Mutation_p.G361C|EHMT1_uc004cob.1_Missense_Mutation_p.G330C NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 361 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) GGAGGACGACGGCCATGGTGC 0.642 NA 15 57 0.000308642 0.00034145 0.003163 1 0 MXRA5 25878 broad.mit.edu 37 X 3235264 3235264 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:3235264G>T uc004crg.3 - 6 6615 c.6458C>A c.(6457-6459)CCG>CAG p.P2153Q NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 2153 Ig-like C2-type 6. extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) CGTCCTCCGCGGGGAGGTGCC 0.697 NA 3 22 0.00024832 0.000275802 0.009096 1 0 AMELX 265 broad.mit.edu 37 X 11316980 11316980 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:11316980C>G uc004cut.2 + 5 525 c.457C>G c.(457-459)CCG>GCG p.P153A ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cus.2_Missense_Mutation_p.P167A|AMELX_uc004cuu.2_Missense_Mutation_p.P137A NM_001142 NP_001133 Q99217 AMELX_HUMAN amelogenin (X chromosome) isoform 1 precursor 153 cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction proteinaceous extracellular matrix cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel 0 GCAGCCCCTGCCGCCACAGCC 0.657 NA 8 23 0 0 0.00308 0 0 MBTPS2 51360 broad.mit.edu 37 X 21887655 21887655 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:21887655G>A uc004dae.2 + 7 1026 c.829G>A c.(829-831)GAC>AAC p.D277N MBTPS2_uc010nfr.2_5'UTR|MBTPS2_uc004dab.2_Missense_Mutation_p.D277N NM_015884 NP_056968 O43462 MBTP2_HUMAN membrane-bound transcription factor peptidase, 277 Lumenal (Probable). cholesterol metabolic process|proteolysis Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity ovary(1) 1 TTTTGTGGGAGACCTTGTCAC 0.428 NA 8 147 0 0 0.004482 0 0 DMD 1756 broad.mit.edu 37 X 32834589 32834589 + Missense_Mutation SNP G G T rs141028860 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:32834589G>T uc004dda.1 - 6 770 c.526C>A c.(526-528)CAT>AAT p.H176N DMD_uc004dcz.2_Missense_Mutation_p.H53N|DMD_uc004dcy.1_Missense_Mutation_p.H172N|DMD_uc004ddb.1_Missense_Mutation_p.H168N|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.H168N|DMD_uc010ngp.1_Missense_Mutation_p.H53N|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 176 CH 2.|Actin-binding. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTACCTATGACTATGGATG 0.403 NA 13 74 1.61879e-10 2.23528e-10 0.001368 1 0 FAM47A 158724 broad.mit.edu 37 X 34149137 34149137 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:34149137T>A uc004ddg.2 - 1 1292 c.1259A>T c.(1258-1260)CAG>CTG p.Q420L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 420 ovary(4)|central_nervous_system(1) 5 ATTGGACACCTGACTAGTGTC 0.552 NA 4 60 0 0 0.009096 0 0 FAM47C 442444 broad.mit.edu 37 X 37028233 37028233 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:37028233C>A uc004ddl.1 + 1 1764 c.1750C>A c.(1750-1752)CCA>ACA p.P584T NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 584 ovary(3) 3 CCATCTCTGCCCAGAGCCTCC 0.642 NA 12 88 6.94344e-10 9.49444e-10 0.006122 1 0 FAM47C 442444 broad.mit.edu 37 X 37028467 37028467 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:37028467C>A uc004ddl.1 + 1 1998 c.1984C>A c.(1984-1986)CGG>AGG p.R662R NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 662 ovary(3) 3 TCCCAAGACTCGGGTGTCCAG 0.652 NA 17 70 8.34094e-07 1.02573e-06 0.008871 1 0 USP11 8237 broad.mit.edu 37 X 47107228 47107228 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:47107228G>A uc004dhp.2 + 21 2791 c.2791G>A c.(2791-2793)GAC>AAC p.D931N USP11_uc004dhq.2_Missense_Mutation_p.D657N NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 931 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CCAACGCCAGGACGTGGCGCG 0.622 NA 7 46 0 0 0.00308 0 0 HDAC6 10013 broad.mit.edu 37 X 48682427 48682427 + Nonsense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:48682427T>A uc011mmi.1 + 27 3494 c.3399T>A c.(3397-3399)TGT>TGA p.C1133* HDAC6_uc004dks.1_Nonsense_Mutation_p.C1133*|HDAC6_uc010nig.1_Nonsense_Mutation_p.C981*|HDAC6_uc004dkt.1_Nonsense_Mutation_p.C1133*|HDAC6_uc011mmk.1_Nonsense_Mutation_p.C1114*|HDAC6_uc004dkv.1_Nonsense_Mutation_p.C781*|HDAC6_uc004dkw.1_Nonsense_Mutation_p.C781*|HDAC6_uc004dkx.1_Nonsense_Mutation_p.C496* NM_006044 NP_006035 Q9UBN7 HDAC6_HUMAN histone deacetylase 6 1133 UBP-type. Zinc 3. aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Vorinostat(DB02546) CCCAACCTTGTGGGGACTGTG 0.562 Pancreas(112;205 1675 2305 8976 15959) NA 7 41 0 0 0.00308 0 0 PQBP1 10084 broad.mit.edu 37 X 48759733 48759733 + Missense_Mutation SNP G G C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:48759733G>C uc004dle.2 + 5 705 c.516G>C c.(514-516)GAG>GAC p.E172D PQBP1_uc004dlf.2_Missense_Mutation_p.E172D|PQBP1_uc004dlg.2_Missense_Mutation_p.E172D|PQBP1_uc004dld.2_Intron|PQBP1_uc004dlh.2_Missense_Mutation_p.E172D|PQBP1_uc004dli.2_Missense_Mutation_p.E172D|PQBP1_uc004dlj.1_Missense_Mutation_p.E172D|PQBP1_uc004dln.2_Missense_Mutation_p.E172D|PQBP1_uc010nih.2_RNA|PQBP1_uc010nii.2_Missense_Mutation_p.E130D|PQBP1_uc004dlk.2_Intron|PQBP1_uc004dll.2_Intron|PQBP1_uc004dlm.2_Missense_Mutation_p.E130D|PQBP1_uc010nij.2_Missense_Mutation_p.E72D NM_001032382 NP_001027554 O60828 PQBP1_HUMAN polyglutamine binding protein 1 172 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|transcription coactivator activity large_intestine(1) 1 ACCGGGAAGAGGGCAAAGAAC 0.607 NA 12 24 0 0 0.001368 0 0 CCNB3 85417 broad.mit.edu 37 X 50053795 50053795 + Missense_Mutation SNP C C G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:50053795C>G uc004dox.3 + 6 2924 c.2626C>G c.(2626-2628)CGA>GGA p.R876G CCNB3_uc004doy.2_Missense_Mutation_p.R876G|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 876 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CCTCTTTAAGCGACACTCAGC 0.517 NA 7 51 0 0 0.001984 0 0 TSPYL2 64061 broad.mit.edu 37 X 53115108 53115108 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:53115108G>A uc004drw.2 + 6 1666 c.1534G>A c.(1534-1536)GAT>AAT p.D512N TSPYL2_uc004drv.2_3'UTR|TSPYL2_uc004drx.1_Missense_Mutation_p.D117N NM_022117 NP_071400 Q9H2G4 TSYL2_HUMAN TSPY-like 2 512 Asn-rich. cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus protein binding|rDNA binding 0 tgagagtgcagatgacaacaa 0.095 NA 9 48 0 0 0.004482 0 0 PHF8 23133 broad.mit.edu 37 X 54012298 54012298 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:54012298G>T uc004dsu.2 - 17 2261 c.2188C>A c.(2188-2190)CTG>ATG p.L730M PHF8_uc004dst.2_Missense_Mutation_p.L694M|PHF8_uc004dsv.2_Missense_Mutation_p.L560M|PHF8_uc004dsw.2_Missense_Mutation_p.L593M|PHF8_uc004dsx.2_Missense_Mutation_p.L458M|PHF8_uc004dsy.2_Intron NM_015107 NP_055922 Q9UPP1 PHF8_HUMAN PHD finger protein 8 730 brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent nucleolus chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(3) 3 GCCTTGAGCAGATCAAGAATG 0.552 NA 15 94 4.93089e-13 7.23541e-13 0.00245 1 0 OPHN1 4983 broad.mit.edu 37 X 67417059 67417059 + Missense_Mutation SNP A A C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:67417059A>C uc004dww.3 - 12 1367 c.1073T>G c.(1072-1074)CTA>CGA p.L358R OPHN1_uc011mpg.1_Missense_Mutation_p.L358R NM_002547 NP_002538 O60890 OPHN1_HUMAN oligophrenin 1 358 PH. axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(2) 2 TTCCATCCATAGCCTTCTGTT 0.473 NA 16 86 0 0 0.004007 0 0 KIAA2022 340533 broad.mit.edu 37 X 73962484 73962484 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:73962484G>T uc004eby.2 - 3 2525 c.1908C>A c.(1906-1908)CAC>CAA p.H636Q NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 636 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TTTGAATCCTGTGCCTGTTGC 0.403 NA 4 29 0.00024832 0.000275802 0.009096 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77912693 77912693 + Nonsense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:77912693C>A uc004edc.1 - 2 1521 c.1225G>T c.(1225-1227)GGA>TGA p.G409* NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 409 nucleic acid binding|zinc ion binding ovary(1) 1 GGTCCATCTCCCTCTGCAGAG 0.527 NA 14 98 7.93312e-07 9.77722e-07 0.00245 1 0 ZCCHC5 203430 broad.mit.edu 37 X 77913149 77913149 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:77913149G>T uc004edc.1 - 2 1065 c.769C>A c.(769-771)CAG>AAG p.Q257K NM_152694 NP_689907 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 257 nucleic acid binding|zinc ion binding ovary(1) 1 CTATACAGCTGAACCAGGAAC 0.507 NA 9 16 2.17888e-05 2.53002e-05 0.006214 1 0 GPR174 84636 broad.mit.edu 37 X 78426624 78426624 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:78426624C>A uc004edg.1 + 1 156 c.120C>A c.(118-120)GCC>GCA p.A40A NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 40 Helical; Name=1; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 ATATATTAGCCCTGTGGGTAT 0.383 NA HNSCC(63;0.18) 7 26 2.7689e-08 3.62732e-08 0.001984 1 0 GPR174 84636 broad.mit.edu 37 X 78426925 78426925 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:78426925G>T uc004edg.1 + 1 457 c.421G>T c.(421-423)GGC>TGC p.G141C NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 141 Helical; Name=4; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 CAGCATTGCTGGCTGGCTGAT 0.473 NA HNSCC(63;0.18) 17 193 1.45105e-14 2.19809e-14 0.006122 1 0 KLHL4 56062 broad.mit.edu 37 X 86888896 86888896 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:86888896T>A uc004efb.2 + 8 1879 c.1697T>A c.(1696-1698)GTT>GAT p.V566D KLHL4_uc004efa.2_Missense_Mutation_p.V566D NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 566 Kelch 3. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GTTGGTGTTGTTGCATTAAAC 0.423 NA 36 63 0 0 0.009718 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873455 91873455 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:91873455C>A uc004efk.1 + 7 4405 c.3560C>A c.(3559-3561)CCA>CAA p.P1187Q PCDH11X_uc004efl.1_Missense_Mutation_p.P1177Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1150Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1179Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1169Q NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1187 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CACCACAGCCCACGAGTGACA 0.587 NSCLC(38;925 1092 2571 38200 45895) NA 55 111 6.4308e-24 1.06297e-23 0.00361 1 0 CENPI 2491 broad.mit.edu 37 X 100403107 100403107 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:100403107A>T uc004egx.2 + 19 2321 c.2051A>T c.(2050-2052)CAT>CTT p.H684L CENPI_uc011mrg.1_Missense_Mutation_p.H684L NM_006733 NP_006724 Q92674 CENPI_HUMAN centromere protein I 684 CenH3-containing nucleosome assembly at centromere|mitotic prometaphase cytosol|kinetochore|nucleoplasm protein binding skin(1) 1 AATGTAGTCCATCATCCTTCT 0.353 NA 6 204 0 0 0.00308 0 0 ZMAT1 84460 broad.mit.edu 37 X 101152922 101152922 + Missense_Mutation SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:101152922C>T uc011mrl.1 - 5 735 c.424G>A c.(424-426)GGA>AGA p.G142R ZMAT1_uc004ein.2_5'UTR|ZMAT1_uc011mrm.1_5'UTR NM_001011657 NP_001011657 Q5H9K5 ZMAT1_HUMAN zinc finger, matrin type 1 isoform 1 Error:Variant_position_missing_in_A7MD47_after_alignment nucleus zinc ion binding ovary(1) 1 TGGACCTTTCCCACATAGTGA 0.413 NA 21 97 0 0 0.001882 0 0 GPRASP1 9737 broad.mit.edu 37 X 101912716 101912716 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:101912716C>A uc004ejj.3 + 5 4676 c.3875C>A c.(3874-3876)ACA>AAA p.T1292K GPRASP1_uc004eji.3_Missense_Mutation_p.T1292K|GPRASP1_uc010nod.2_Missense_Mutation_p.T1292K NM_014710 NP_055525 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting 1292 OPRD1-binding. cytoplasm protein binding ovary(1)|lung(1) 2 AATGCCAAAACAAGGTTTCAT 0.378 NA 7 107 1.6384e-10 2.25682e-10 0.001984 1 0 CLDN2 9075 broad.mit.edu 37 X 106171887 106171887 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:106171887C>A uc004emq.1 + 2 948 c.429C>A c.(427-429)ATC>ATA p.I143I MORC4_uc004emp.3_Intron|CLDN2_uc004emt.1_Silent_p.I143I NM_020384 NP_065117 P57739 CLD2_HUMAN claudin 2 143 Extracellular (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 TTCATGGGATCCTACGGGACT 0.498 NA 34 234 1.22384e-17 1.89475e-17 0.002836 1 0 IRS4 8471 broad.mit.edu 37 X 107976663 107976663 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:107976663G>A uc004eoc.2 - 1 2945 c.2912C>T c.(2911-2913)CCA>CTA p.P971L NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 971 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity p.P971L(1) ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 GTCGTTTGCTGGATTTGGAAA 0.483 NA 28 268 0 0 0.00632 0 0 ALG13 79868 broad.mit.edu 37 X 110987964 110987964 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:110987964C>A uc011msy.1 + 24 2798 c.2764C>A c.(2764-2766)CCA>ACA p.P922T ALG13_uc011msx.1_Intron|ALG13_uc011msz.1_Missense_Mutation_p.P844T|ALG13_uc011mta.1_Intron|ALG13_uc011mtb.1_Intron Q9NP73 ALG13_HUMAN SubName: Full=Asparagine-linked glycosylation 13 homolog (S. cerevisiae); 922 Pro-rich. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity lung(1) 1 accaccaccaccaccaccacc 0.234 NA 3 7 0.004672 0.00497285 0.004672 1 0 TRPC5 7224 broad.mit.edu 37 X 111195495 111195495 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:111195495G>A uc004epl.1 - 2 1073 c.154C>T c.(154-156)CTT>TTT p.L52F TRPC5_uc004epm.1_Missense_Mutation_p.L52F NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 52 Cytoplasmic (Potential).|ANK 1. axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GCCTCCTGAAGGGCCTGCTTC 0.542 NA 9 130 0 0 0.006214 0 0 LRCH2 57631 broad.mit.edu 37 X 114422812 114422812 + Silent SNP C C T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:114422812C>T uc010nqe.2 - 2 502 c.471G>A c.(469-471)CAG>CAA p.Q157Q LRCH2_uc004epz.2_Silent_p.Q157Q|RBMXL3_uc011mte.1_5'Flank NM_020871 NP_065922 Q5VUJ6 LRCH2_HUMAN leucine-rich repeats and calponin homology (CH) 157 ovary(1) 1 ATGTTAACATCTGCAGATTTT 0.289 NA 4 15 0 0 0.009096 0 0 DOCK11 139818 broad.mit.edu 37 X 117677516 117677516 + Nonsense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:117677516A>T uc004eqp.2 + 4 415 c.352A>T c.(352-354)AAG>TAG p.K118* NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 118 Interaction with activated CDC42 (By similarity). blood coagulation cytosol GTP binding ovary(3) 3 GGTAAACTACAAGTATGAGGA 0.353 NA 28 130 0 0 0.008361 0 0 DOCK11 139818 broad.mit.edu 37 X 117742200 117742200 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:117742200T>A uc004eqp.2 + 26 2821 c.2758T>A c.(2758-2760)TTC>ATC p.F920I DOCK11_uc004eqq.2_Missense_Mutation_p.F686I NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 920 blood coagulation cytosol GTP binding ovary(3) 3 GTAGTATAGCTTCCGACCTGA 0.358 NA 9 129 0 0 0.008291 0 0 ODZ1 10178 broad.mit.edu 37 X 123615651 123615651 + Missense_Mutation SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:123615651G>A uc004euj.2 - 21 3923 c.3859C>T c.(3859-3861)CTT>TTT p.L1287F ODZ1_uc011muj.1_Missense_Mutation_p.L1293F|ODZ1_uc010nqy.2_Missense_Mutation_p.L1294F NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1287 Extracellular (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TCAAAGGGAAGGCACTGATCA 0.408 NA 10 165 0 0 0.000978 0 0 ODZ1 10178 broad.mit.edu 37 X 124097540 124097540 + Silent SNP T T C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:124097540T>C uc004euj.2 - 1 127 c.63A>G c.(61-63)CTA>CTG p.L21L ODZ1_uc011muj.1_Silent_p.L21L|ODZ1_uc010nqy.2_Silent_p.L21L NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 21 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 TGGTGTAAGCTAGATCCATTT 0.443 NA 42 339 0 0 0.009718 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298847 125298847 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:125298847C>A uc004euk.1 - 1 1088 c.1061G>T c.(1060-1062)CGG>CTG p.R354L NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 354 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCTCAGCGACCGCACGCCTGT 0.637 NA 43 85 1.57945e-13 2.33593e-13 0.002852 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128901653 128901653 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:128901653G>A uc004eut.1 + 20 2059 c.1815G>A c.(1813-1815)CTG>CTA p.L605L NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 605 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 ATGTCAGCCTGCTGTCTCCCG 0.587 NA 6 173 0 0 0.001984 0 0 UTP14A 10813 broad.mit.edu 37 X 129054695 129054695 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:129054695G>A uc004euz.2 + 10 949 c.921G>A c.(919-921)AAG>AAA p.K307K UTP14A_uc011mup.1_Silent_p.K255K|UTP14A_uc011muq.1_Silent_p.K253K|UTP14A_uc004eva.1_Silent_p.K13K NM_006649 NP_006640 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 307 rRNA processing nucleolus|small-subunit processome protein binding ovary(2) 2 AATGGGCCAAGTCAAAGGCAA 0.458 NA 13 166 0 0 0.00245 0 0 ENOX2 10495 broad.mit.edu 37 X 129771317 129771317 + Nonsense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:129771317G>T uc004evw.2 - 12 1702 c.1284C>A c.(1282-1284)TAC>TAA p.Y428* ENOX2_uc004evx.2_Nonsense_Mutation_p.Y399*|ENOX2_uc004evy.2_Nonsense_Mutation_p.Y399*|ENOX2_uc004evv.2_Nonsense_Mutation_p.Y253* NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 428 Potential. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 CTTCATTCCGGTAGGCATCGA 0.443 Ovarian(101;828 1506 2951 9500 35258) NA 37 299 1.57351e-24 2.63189e-24 0.003755 1 0 USP26 83844 broad.mit.edu 37 X 132162134 132162134 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:132162134C>A uc010nrm.1 - 6 585 c.115G>T c.(115-117)GTG>TTG p.V39L USP26_uc011mvf.1_Missense_Mutation_p.V39L NM_031907 NP_114113 Q9BXU7 UBP26_HUMAN ubiquitin-specific protease 26 39 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) AAATACAGCACCAGTCTATCT 0.368 NSCLC(104;342 1621 36940 47097 52632) NA 18 132 1.99824e-07 2.5465e-07 0.00499 1 0 GPC4 2239 broad.mit.edu 37 X 132548853 132548853 + Silent SNP G G A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:132548853G>A uc004exc.1 - 1 353 c.141C>T c.(139-141)GCC>GCT p.A47A GPC4_uc011mvg.1_5'Flank NM_001448 NP_001439 O75487 GPC4_HUMAN glypican 4 precursor 47 anatomical structure morphogenesis|cell proliferation anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding 0 Acute lymphoblastic leukemia(192;0.000127) CGTGGAGGGGGGCATCGTTCT 0.637 NA 13 188 0 0 0.003163 0 0 GPR112 139378 broad.mit.edu 37 X 135430448 135430448 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:135430448T>A uc004ezu.1 + 6 4874 c.4583T>A c.(4582-4584)GTT>GAT p.V1528D GPR112_uc010nsb.1_Missense_Mutation_p.V1323D|GPR112_uc010nsc.1_Missense_Mutation_p.V1295D NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1528 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCCAAAAAAGTTTCTGACACT 0.433 NA 10 195 0 0 0.006214 0 0 GPR112 139378 broad.mit.edu 37 X 135430861 135430861 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:135430861G>T uc004ezu.1 + 6 5287 c.4996G>T c.(4996-4998)GGG>TGG p.G1666W GPR112_uc010nsb.1_Missense_Mutation_p.G1461W|GPR112_uc010nsc.1_Missense_Mutation_p.G1433W NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1666 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) CATTATGGCTGGGATAGTGAC 0.473 NA 45 345 1.32667e-27 2.25253e-27 0.00361 1 0 GPR112 139378 broad.mit.edu 37 X 135445641 135445641 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:135445641T>A uc004ezu.1 + 13 7574 c.7283T>A c.(7282-7284)ATC>AAC p.I2428N GPR112_uc010nsb.1_Missense_Mutation_p.I2223N NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2428 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TTCAGTTCAATCAGCATCAAC 0.403 NA 14 109 0 0 0.003163 0 0 HAUS7 55559 broad.mit.edu 37 X 152734677 152734677 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:152734677G>T uc004fho.1 - 2 739 c.181C>A c.(181-183)CCA>ACA p.P61T HAUS7_uc004fhl.2_RNA|HAUS7_uc004fhm.2_RNA|HAUS7_uc004fhn.1_Missense_Mutation_p.P61T|HAUS7_uc004fhp.1_RNA|HAUS7_uc011myq.1_RNA NM_017518 NP_059988 Q99871 HAUS7_HUMAN HAUS augmin-like complex subunit 7 61 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding 0 ATTGTCTTTGGCTCTGTGATA 0.473 NA 18 167 2.35188e-11 3.321e-11 0.006122 1 0 BGN 633 broad.mit.edu 37 X 152770113 152770114 + Missense_Mutation DNP GT GT TA TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 GT GT - - GT GT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:152770113_152770114GT>TA uc004fhr.1 + 2 196_197 c.24_25GT>TA c.(22-27)GTGTCT>GTTACT p.S9T BGN_uc004fhq.1_RNA NM_001711 NP_001702 P21810 PGS1_HUMAN biglycan preproprotein 9 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2) 2 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGCCTCGTGTCTCTGCTGGC 0.629 NA 24 42 0 0 0.004672 0 0 ATP2B3 492 broad.mit.edu 37 X 152806953 152806953 + Missense_Mutation SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:152806953G>T uc004fht.1 + 2 471 c.345G>T c.(343-345)GAG>GAT p.E115D ATP2B3_uc004fhs.1_Missense_Mutation_p.E115D NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 115 Helical; (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCATCCTGGAGGTGGCTGCCA 0.622 NA 20 45 2.89027e-11 4.04062e-11 0.002299 1 0 IDH3G 3421 broad.mit.edu 37 X 153051701 153051701 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153051701C>A uc004fip.2 - 12 1232 c.1046G>T c.(1045-1047)CGT>CTT p.R349L IDH3G_uc004fio.2_Missense_Mutation_p.R291L|IDH3G_uc004fiq.2_Missense_Mutation_p.R349L|IDH3G_uc010num.2_Missense_Mutation_p.R291L|IDH3G_uc004fir.2_Missense_Mutation_p.R291L|IDH3G_uc004fit.1_3'UTR|IDH3G_uc004fis.2_Missense_Mutation_p.R291L|IDH3G_uc004fiu.2_Missense_Mutation_p.R125L NM_004135 NP_004126 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma isoform 349 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) GACAGCCTTACGGATGGAGGT 0.662 NA 14 130 0.000308642 0.00034145 0.003163 1 0 L1CAM 3897 broad.mit.edu 37 X 153128312 153128312 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153128312A>T uc004fjb.2 - 28 3688 c.3580T>A c.(3580-3582)TCG>ACG p.S1194T L1CAM_uc004fjc.2_Missense_Mutation_p.S1190T|L1CAM_uc010nuo.2_Missense_Mutation_p.S1185T NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1194 Cytoplasmic (Potential). S -> L (in HSAS and MASA). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGTTGAGCGATGGCTGGCTG 0.622 NA 8 49 0 0 0.00308 0 0 L1CAM 3897 broad.mit.edu 37 X 153130448 153130448 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153130448C>A uc004fjb.2 - 22 2982 c.2874G>T c.(2872-2874)CTG>CTT p.L958L L1CAM_uc004fjc.2_Silent_p.L958L|L1CAM_uc010nuo.2_Silent_p.L953L NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 958 Extracellular (Potential).|Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCCCTCATCCACTGTGGGGA 0.682 NA 9 157 3.09899e-07 3.93144e-07 0.004482 1 0 L1CAM 3897 broad.mit.edu 37 X 153132929 153132929 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153132929G>T uc004fjb.2 - 16 2127 c.2019C>A c.(2017-2019)ACC>ACA p.T673T L1CAM_uc004fjc.2_Silent_p.T673T|L1CAM_uc010nuo.2_Silent_p.T668T NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 673 Fibronectin type-III 1.|Extracellular (Potential). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGTGGTAGAGGTCTGGTTCC 0.512 NA 24 261 3.6726e-16 5.62398e-16 0.003954 1 0 L1CAM 3897 broad.mit.edu 37 X 153136381 153136381 + Silent SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153136381C>A uc004fjb.2 - 6 666 c.558G>T c.(556-558)ACG>ACT p.T186T L1CAM_uc004fjc.2_Silent_p.T186T|L1CAM_uc010nuo.2_Silent_p.T181T|L1CAM_uc004fjd.1_5'UTR|L1CAM_uc004fje.1_Silent_p.T181T NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 186 Extracellular (Potential).|Ig-like C2-type 2. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTGGCCCATCGTCACCCGCT 0.602 NA 19 145 7.45023e-12 1.06812e-11 0.010504 1 0 OPN1LW 5956 broad.mit.edu 37 X 153420135 153420135 + Missense_Mutation SNP T T A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153420135T>A uc004fjz.3 + 4 698 c.665T>A c.(664-666)GTC>GAC p.V222D NM_020061 NP_064445 P04000 OPSR_HUMAN opsin 1 (cone pigments), long-wave-sensitive 222 Helical; Name=5; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity 0 all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TACATGATTGTCCTCATGGTC 0.602 NA 18 311 0 0 0.008871 0 0 FAM50A 9130 broad.mit.edu 37 X 153678642 153678642 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:153678642C>A uc004fll.3 + 12 1084 c.986C>A c.(985-987)CCT>CAT p.P329H NM_004699 NP_004690 Q14320 FA50A_HUMAN XAP-5 protein 329 spermatogenesis nucleus ovary(1) 1 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) CCCTACGACCCTGAAAAGAAG 0.612 NA 13 98 9.31168e-06 1.10404e-05 0.001855 1 0 MPP1 4354 broad.mit.edu 37 X 154014665 154014665 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:154014665C>A uc004fmp.1 - 6 606 c.491G>T c.(490-492)AGA>ATA p.R164I MPP1_uc010nvg.1_Intron|MPP1_uc011mzv.1_Missense_Mutation_p.R134I|MPP1_uc004fmq.1_Missense_Mutation_p.R118I|MPP1_uc011mzw.1_Missense_Mutation_p.R147I|MPP1_uc010nvh.1_Missense_Mutation_p.R38I NM_002436 NP_002427 Q00013 EM55_HUMAN palmitoylated membrane protein 1 164 SH3. regulation of neutrophil chemotaxis|signal transduction integral to plasma membrane|membrane fraction|stereocilium guanylate kinase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) AAACTGCGCTCTCATGAACAT 0.463 NA 27 543 4.87955e-14 7.31283e-14 0.005443 1 0 F8 2157 broad.mit.edu 37 X 154157322 154157322 + Missense_Mutation SNP C C A TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:154157322C>A uc004fmt.2 - 14 4914 c.4743G>T c.(4741-4743)TTG>TTT p.L1581F NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1581 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CAAGAGGATCCAATAGCTTGG 0.433 NA 161 240 4.58859e-59 8.00866e-59 0.00361 1 0 RAB39B 116442 broad.mit.edu 37 X 154493532 154493532 + Silent SNP G G T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:154493532G>T uc004fne.2 - 1 321 c.42C>A c.(40-42)ATC>ATA p.I14I NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 14 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGAATCCCCGATGACAATGA 0.667 NA 10 172 1.08611e-07 1.39678e-07 0.000978 1 0 RAB39B 116442 broad.mit.edu 37 X 154493561 154493561 + Missense_Mutation SNP A A T TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:154493561A>T uc004fne.2 - 1 292 c.13T>A c.(13-15)TGG>AGG p.W5R NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 5 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGGTACAGCCAGATGGCCTCC 0.687 NA 7 135 0 0 0.006214 0 0 SPSB1 80176 broad.mit.edu 37 1 9416498 9416499 + Frame_Shift_Ins INS - - G TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:9416498_9416499insG uc010oae.1 + 2 887_888 c.548_549insG c.(547-549)ATGfs p.M183fs SPSB1_uc001apv.2_Frame_Shift_Ins_p.M183fs NM_025106 NP_079382 Q96BD6 SPSB1_HUMAN splA/ryanodine receptor domain and SOCS box 183 B30.2/SPRY. intracellular signal transduction cytoplasm 0 all_lung(157;0.194) all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419) GCCCTGGACATGGACGACGGGA 0.515 NA 25 181 --- --- --- --- NA NA NA NA NA ESRRG 2104 broad.mit.edu 37 1 216850615 216850615 + Frame_Shift_Del DEL C C - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:216850615delC uc001hkw.1 - 2 441 c.275delG c.(274-276)GGAfs p.G92fs ESRRG_uc001hky.1_Frame_Shift_Del_p.G69fs|ESRRG_uc009xdp.1_Frame_Shift_Del_p.G69fs|ESRRG_uc001hkz.1_Frame_Shift_Del_p.G69fs|ESRRG_uc010puc.1_Frame_Shift_Del_p.G69fs|ESRRG_uc001hla.1_Frame_Shift_Del_p.G69fs|ESRRG_uc001hlb.1_Frame_Shift_Del_p.G69fs|ESRRG_uc010pud.1_Intron|ESRRG_uc001hlc.1_Frame_Shift_Del_p.G69fs|ESRRG_uc001hld.1_Frame_Shift_Del_p.G69fs|ESRRG_uc001hkx.1_Frame_Shift_Del_p.G97fs|ESRRG_uc009xdo.1_Frame_Shift_Del_p.G69fs|ESRRG_uc001hle.1_Frame_Shift_Del_p.G69fs NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 92 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) CCCACTACCTCCCAGGATAGG 0.532 NA 68 157 --- --- --- --- NA NA NA NA NA LYST 1130 broad.mit.edu 37 1 235922575 235922575 + Frame_Shift_Del DEL C C - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr1:235922575delC uc001hxj.2 - 23 6753 c.6578delG c.(6577-6579)GGAfs p.G2193fs LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 2193 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCCCAGCACTCCCTTTGGGAC 0.512 NA Chediak-Higashsyndrome 69 176 --- --- --- --- NA NA NA NA NA IQSEC3 440073 broad.mit.edu 37 12 247477 247478 + Frame_Shift_Del DEL GC GC - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:247477_247478delGC uc001qhw.1 + 1 45_46 c.39_40delGC c.(37-42)CGGCGCfs p.R13fs IQSEC3_uc001qhu.1_Frame_Shift_Del_p.R13fs|IQSEC3_uc001qht.1_Frame_Shift_Del_p.R98fs|uc001qhv.1_RNA NM_015232 NP_056047 Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 316_317 IQ. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|large_intestine(1)|skin(1) 4 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) TGGTGTCCCGGCGCGCCGCTTG 0.599 NA 8 33 --- --- --- --- NA NA NA NA NA MGA 23269 broad.mit.edu 37 15 42028569 42028569 + Frame_Shift_Del DEL G G - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:42028569delG uc010ucy.1 + 13 4288 c.4107delG c.(4105-4107)GTGfs p.V1369fs MGA_uc010ucz.1_Frame_Shift_Del_p.V1369fs|MGA_uc010uda.1_Intron NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 1 1369 MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) CACTTAAGGTGGGCAGCTTCA 0.458 NA 40 89 --- --- --- --- NA NA NA NA NA SIN3A 25942 broad.mit.edu 37 15 75715034 75715034 + Frame_Shift_Del DEL G G - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr15:75715034delG uc002bai.2 - 3 579 c.320delC c.(319-321)CCAfs p.P107fs SIN3A_uc002baj.2_Frame_Shift_Del_p.P107fs|SIN3A_uc010uml.1_Frame_Shift_Del_p.P107fs|SIN3A_uc002bak.3_Frame_Shift_Del_p.P107fs NM_015477 NP_056292 Q96ST3 SIN3A_HUMAN transcriptional co-repressor Sin3A 107 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding skin(3)|ovary(1)|lung(1) 5 TGCAACTGGTGGGGCTGGATG 0.527 NA 43 96 --- --- --- --- NA NA NA NA NA SLC7A9 11136 broad.mit.edu 37 19 33355102 33355103 + Frame_Shift_Ins INS - - C TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:33355102_33355103insC uc002ntv.3 - 4 494_495 c.377_378insG c.(376-378)GCCfs p.A126fs SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Frame_Shift_Ins_p.A126fs|SLC7A9_uc002ntw.3_5'UTR NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 126 Extracellular (Potential). A -> T (in CSNU). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) GGCAGATGATGGCGAAGGACGT 0.599 GBM(181;1335 2108 9644 44178 46689) NA 7 49 --- --- --- --- NA NA NA NA NA ZIM2 23619 broad.mit.edu 37 19 57286803 57286804 + Frame_Shift_Ins INS - - A rs149106731 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr19:57286803_57286804insA uc002qnr.2 - 11 1218_1219 c.836_837insT c.(835-837)CCGfs p.P279fs uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_Frame_Shift_Ins_p.P75fs|ZIM2_uc010ygr.1_Frame_Shift_Ins_p.P75fs|ZIM2_uc002qnq.2_Frame_Shift_Ins_p.P279fs|ZIM2_uc010etp.2_Frame_Shift_Ins_p.P279fs|ZIM2_uc010ygs.1_Frame_Shift_Ins_p.P279fs NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 279 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) AGCTTCTTTCCGGAGTGAGGGT 0.46 NA 41 125 --- --- --- --- NA NA NA NA NA NPFFR2 10886 broad.mit.edu 37 4 72897699 72897699 + Frame_Shift_Del DEL G G - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr4:72897699delG uc003hgg.2 + 1 179 c.81delG c.(79-81)GCGfs p.A27fs NPFFR2_uc010iig.1_5'UTR NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 27 Extracellular (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) ACAAGGAGGCGGGGAGGGAGC 0.672 NA 7 84 --- --- --- --- NA NA NA NA NA LMTK2 22853 broad.mit.edu 37 7 97800896 97800896 + Frame_Shift_Del DEL G G - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:97800896delG uc003upd.1 + 7 994 c.701delG c.(700-702)CGGfs p.R234fs NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 234 Protein kinase. early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity p.R234L(1) 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) GAGCACATGCGGGGGGACTCA 0.617 NA 25 104 --- --- --- --- NA NA NA NA NA SERPINE1 5054 broad.mit.edu 37 7 100773778 100773779 + Frame_Shift_Del DEL CA CA - rs149070955 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr7:100773778_100773779delCA uc003uxt.2 + 3 496_497 c.348_349delCA c.(346-351)ACCACAfs p.T116fs SERPINE1_uc011kkj.1_Frame_Shift_Del_p.T101fs|SERPINE1_uc003uxu.1_5'Flank NM_000602 NP_000593 P05121 PAI1_HUMAN plasminogen activator inhibitor-1 isoform 1 116_117 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity ovary(1)|lung(1)|central_nervous_system(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) AGATCAGCACCACAGACGCGAT 0.599 NA 110 207 --- --- --- --- NA NA NA NA NA ADCY8 114 broad.mit.edu 37 8 131848677 131848677 + Frame_Shift_Del DEL C C - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr8:131848677delC uc003ytd.3 - 12 2777 c.2521delG c.(2521-2523)GTGfs p.V841fs ADCY8_uc010mds.2_Frame_Shift_Del_p.V710fs NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 841 Helical; (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) ATGGCCAACACCCCCGTGAAG 0.532 NA HNSCC(32;0.087) 7 61 --- --- --- --- NA NA NA NA NA SLITRK2 84631 broad.mit.edu 37 X 144904509 144904509 + Frame_Shift_Del DEL G G - TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chrX:144904509delG uc004fcd.2 + 5 1556 c.566delG c.(565-567)AGGfs p.R189fs SLITRK2_uc010nsp.2_Frame_Shift_Del_p.R189fs|SLITRK2_uc010nso.2_Frame_Shift_Del_p.R189fs|SLITRK2_uc011mwq.1_Frame_Shift_Del_p.R189fs|SLITRK2_uc011mwr.1_Frame_Shift_Del_p.R189fs|SLITRK2_uc011mws.1_Frame_Shift_Del_p.R189fs|SLITRK2_uc004fcg.2_Frame_Shift_Del_p.R189fs|SLITRK2_uc011mwt.1_Frame_Shift_Del_p.R189fs NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 189 Extracellular (Potential).|LRR 6. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TTAGACCTCAGGGGGAATAGG 0.463 NA 27 210 --- --- --- --- NA NA NA NA NA KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C A rs121913530 TCGA-05-4405-01A-21D-1855-08 TCGA-05-4405-10A-01D-1855-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3ef10eb8-d713-4fda-9e03-bc594b356d77 78d03ee6-4bd7-427a-8b57-ed7d0877f545 g.chr12:25398285C>A uc001rgp.1 - 2 215 c.34G>T c.(34-36)GGT>TGT p.G12C KRAS_uc001rgq.1_Missense_Mutation_p.G12C|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12G(6)|p.G12N(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12C(CALU1_LUNG)|G12C(NCIH2030_LUNG)|G12C(LU99_LUNG)|G12C(NCIH1792_LUNG)|G12R(KP2_PANCREAS)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(NCIH2122_LUNG)|G12C(NCIH358_LUNG)|G12R(PSN1_PANCREAS)|G12C(KYSE410_OESOPHAGUS)|G12S(A549_LUNG)|G12R(HUPT3_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12C(HCC44_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(SW1463_LARGE_INTESTINE)|G12C(NCIH23_LUNG)|G12C(LU65_LUNG)|G12C(NCIH1373_LUNG)|G12C(MIAPACA2_PANCREAS)|G12R(HS274T_BREAST)|G12S(LS123_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(OV56_OVARY)|G12C(IALM_LUNG) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 12 NA NA NA NA 0.184627 0.188656 0.000602 1 1