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 SLC25A33 84275 broad.mit.edu 37 1 9640262 9640262 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:9640262G>A uc001apw.2 + 6 956 c.733G>A c.(733-735)GGC>AGC p.G245S SLC25A33_uc001apx.2_Missense_Mutation_p.G178S NM_032315 NP_115691 Q9BSK2 S2533_HUMAN mitochondrial carrier protein MGC4399 245 Solcar 3.|Helical; Name=5; (Potential). transport integral to membrane|mitochondrial inner membrane 0 all_lung(157;0.246) all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419) TCTTTCTAAGGGCTGTGCCTC 0.428 NA 32 11 0 0 0.004289 0 0 PAX7 5081 broad.mit.edu 37 1 19062154 19062154 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:19062154C>T uc001bay.2 + 8 1782 c.1184C>T c.(1183-1185)GCG>GTG p.A395V PAX7_uc001baz.2_Missense_Mutation_p.A393V|PAX7_uc010oct.1_Missense_Mutation_p.A395V NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 395 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) AACCCCAGTGCGGTGCCCCCG 0.652 NA T FOXO1A alveolar rhabdomyosarcoma 18 43 0 0 0.00499 0 0 HSPG2 3339 broad.mit.edu 37 1 22211527 22211527 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:22211527C>A uc001bfj.2 - 11 1374 c.1334G>T c.(1333-1335)GGC>GTC p.G445V HSPG2_uc009vqd.2_Missense_Mutation_p.G445V NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 445 Ig-like C2-type 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) GGGGATGTGGCCCCAGTTGAG 0.652 NA 13 17 0.00010058 0.000115886 0.001368 1 0 C1QB 713 broad.mit.edu 37 1 22986050 22986051 + Missense_Mutation DNP CC CC AA TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:22986050_22986051CC>AA uc001bgd.2 + 2 233_234 c.101_102CC>AA c.(100-102)CCC>CAA p.P34Q NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 34 complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) TGCACCGGGCCCCCAGCCATCC 0.594 NA 6 12 0 0 0.004672 0 0 CSMD2 114784 broad.mit.edu 37 1 34006140 34006140 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:34006140G>T uc001bxn.1 - 59 9213 c.9184C>A c.(9184-9186)CTG>ATG p.L3062M CSMD2_uc001bxm.1_Missense_Mutation_p.L3206M NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3062 Sushi 23.|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) CACTGAGGCAGCTCTCCGGTC 0.587 NA 43 49 2.43468e-25 3.91024e-25 0.00361 1 0 TRIT1 54802 broad.mit.edu 37 1 40312906 40312906 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:40312906T>G uc010oiz.1 - 8 1006 c.992A>C c.(991-993)AAC>ACC p.N331T TRIT1_uc001cec.3_RNA|TRIT1_uc001ced.3_Missense_Mutation_p.N27T|TRIT1_uc001cee.3_RNA|TRIT1_uc001cef.3_RNA|TRIT1_uc001ceg.3_Missense_Mutation_p.N85T|TRIT1_uc001ceh.3_Missense_Mutation_p.N85T|TRIT1_uc009vvv.2_Intron|TRIT1_uc001cei.3_Missense_Mutation_p.N85T|TRIT1_uc001ceq.2_Missense_Mutation_p.N27T|TRIT1_uc001cek.2_Missense_Mutation_p.N27T|TRIT1_uc009vvx.2_Intron|TRIT1_uc001cel.2_Intron|TRIT1_uc001cem.2_Missense_Mutation_p.N249T|TRIT1_uc001cen.2_Missense_Mutation_p.N85T|TRIT1_uc001ceo.2_Missense_Mutation_p.N85T|TRIT1_uc001cep.2_Missense_Mutation_p.N85T NM_017646 NP_060116 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 precursor 331 Interaction with substrate tRNA (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity ovary(1) 1 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CAAAAAACGGTTTTTAACCCA 0.358 NA 22 52 0 0 0.003954 0 0 RLF 6018 broad.mit.edu 37 1 40701680 40701680 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:40701680C>T uc001cfc.3 + 8 1337 c.1306C>T c.(1306-1308)CCA>TCA p.P436S RLF_uc001cfd.3_Missense_Mutation_p.P127S NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 436 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATATTTGCAACCAGATCAAAA 0.373 NA 89 82 0 0 0.00361 0 0 DOCK7 85440 broad.mit.edu 37 1 62995065 62995065 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:62995065T>A uc001daq.2 - 30 3698 c.3664A>T c.(3664-3666)AGT>TGT p.S1222C DOCK7_uc001dan.2_Missense_Mutation_p.S1083C|DOCK7_uc001dao.2_Missense_Mutation_p.S1083C|DOCK7_uc001dap.2_Missense_Mutation_p.S1191C|DOCK7_uc001dam.2_Missense_Mutation_p.S402C|DOCK7_uc010oov.1_Missense_Mutation_p.S50C NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1222 activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GAGTCGTGACTGGAGAGTAAA 0.413 NA 27 26 0 0 0.005443 0 0 WDR78 79819 broad.mit.edu 37 1 67327898 67327898 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:67327898G>A uc001dcx.2 - 7 1084 c.1028C>T c.(1027-1029)TCA>TTA p.S343L WDR78_uc001dcy.2_Missense_Mutation_p.S343L|WDR78_uc009waw.2_Missense_Mutation_p.S89L|WDR78_uc009wax.2_RNA NM_024763 NP_079039 Q5VTH9 WDR78_HUMAN WD repeat domain 78 isoform 1 343 ovary(2) 2 TTTACTACTTGACTCAACCAC 0.338 NA 7 72 0 0 0.00308 0 0 LRRC7 57554 broad.mit.edu 37 1 70397207 70397207 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:70397207C>A uc001dep.2 + 6 581 c.551C>A c.(550-552)GCC>GAC p.A184D LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 184 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CACAAACTGGCCCAGTTGGAA 0.403 NA 13 16 6.72482e-11 9.23357e-11 0.003163 1 0 LRRC7 57554 broad.mit.edu 37 1 70504740 70504740 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:70504740T>A uc001dep.2 + 19 3149 c.3119T>A c.(3118-3120)GTG>GAG p.V1040E LRRC7_uc009wbg.2_Missense_Mutation_p.V324E|LRRC7_uc001deq.2_Missense_Mutation_p.V281E NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1040 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 CAAGGATCAGTGGAAGTGAAA 0.443 NA 30 31 0 0 0.002096 0 0 LRRC7 57554 broad.mit.edu 37 1 70541966 70541966 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:70541966T>C uc001dep.2 + 22 4353 c.4323T>C c.(4321-4323)GAT>GAC p.D1441D LRRC7_uc009wbg.2_Silent_p.D725D|LRRC7_uc001deq.2_Silent_p.D635D NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1441 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GGAGTATGGATGGATATCCAG 0.458 NA 12 70 0 0 0.000978 0 0 LRRC8D 55144 broad.mit.edu 37 1 90398902 90398902 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:90398902G>C uc001dnm.2 + 3 700 c.275G>C c.(274-276)GGG>GCG p.G92A LRRC8D_uc001dnn.2_Missense_Mutation_p.G92A NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 92 integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GACCAAGATGGGCGGACAACA 0.498 NA 4 39 0 0 0.000248 0 0 EPS8L3 79574 broad.mit.edu 37 1 110300959 110300959 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:110300959G>T uc001dyr.1 - 8 841 c.696C>A c.(694-696)CCC>CCA p.P232P EPS8L3_uc001dys.1_Silent_p.P232P|EPS8L3_uc001dyq.1_Silent_p.P233P|EPS8L3_uc009wfm.1_Silent_p.P199P|EPS8L3_uc009wfn.1_Silent_p.P207P|EPS8L3_uc009wfo.1_Silent_p.P179P NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN epidermal growth factor receptor pathway 232 Pro-rich. cytoplasm protein binding ovary(2)|skin(1) 3 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) CTGGGTCCTCGGGGGAAGAGG 0.607 NA 42 91 1.48646e-12 2.10648e-12 0.002522 1 0 KPRP 448834 broad.mit.edu 37 1 152733006 152733006 + Silent SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:152733006T>A uc001fal.1 + 2 1000 c.942T>A c.(940-942)ATT>ATA p.I314I NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 314 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GCCGCCCCATTTCAAGCTGCT 0.587 NA 70 44 0 0 0.00361 0 0 SPRR2G 6706 broad.mit.edu 37 1 153122499 153122499 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:153122499G>T uc009wod.1 - 2 209 c.88C>A c.(88-90)CCG>ACG p.P30T NM_001014291 NP_001014313 Q9BYE4 SPR2G_HUMAN small proline-rich protein 2G 30 3 X 9 AA approximate tandem repeats.|2. keratinization cornified envelope|cytoplasm 0 all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GGGCACTTCGGGGGTGGACAT 0.607 NA 77 86 5.04879e-28 8.20815e-28 0.00361 1 0 TDRD10 126668 broad.mit.edu 37 1 154516441 154516441 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:154516441G>T uc009wow.2 + 9 1344 c.506G>T c.(505-507)GGG>GTG p.G169V TDRD10_uc001ffd.2_Missense_Mutation_p.G169V|TDRD10_uc001ffe.2_Missense_Mutation_p.G90V NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a 169 nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TCCCGCAGAGGGTCCTTCCTG 0.617 NA 106 194 1.06508e-68 1.82094e-68 0.00361 1 0 VHLL 391104 broad.mit.edu 37 1 156268904 156268904 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:156268904C>T uc001fok.2 - 1 525 c.77G>A c.(76-78)TGC>TAC p.C26Y NM_001004319 NP_001004319 Q6RSH7 VHLL_HUMAN von Hippel-Lindau tumor suppressor-like 26 protein ubiquitination nucleus ovary(1) 1 Hepatocellular(266;0.158) CTCTTCCTGGCAGTACTCTTC 0.632 NA 47 87 0 0 0.00361 0 0 USH2A 7399 broad.mit.edu 37 1 215822056 215822056 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:215822056G>T uc001hku.1 - 66 14783 c.14396C>A c.(14395-14397)ACT>AAT p.T4799N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4799 Fibronectin type-III 33.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AGAGTAGTTAGTGAAGGCTTG 0.527 NA HNSCC(13;0.011) 12 40 0.00136819 0.0015561 0.001368 1 0 RYR2 6262 broad.mit.edu 37 1 237774190 237774190 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:237774190G>T uc001hyl.1 + 36 4932 c.4812G>T c.(4810-4812)TTG>TTT p.L1604F NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1604 Cytoplasmic (By similarity).|4 X approximate repeats. 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) ACCAGTTTTTGAAGGTAGATG 0.537 NA 6 20 3.59834e-05 4.31475e-05 0.001168 1 0 ZP4 57829 broad.mit.edu 37 1 238053218 238053218 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:238053218G>T uc001hym.2 - 3 349 c.349C>A c.(349-351)CAC>AAC p.H117N LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 117 Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACCACCTTGTGTTCAGCCGCG 0.582 NSCLC(166;160 2029 11600 18754 19936) NA 169 100 7.29064e-110 1.25456e-109 0.00361 1 0 OR2AK2 391191 broad.mit.edu 37 1 248128815 248128815 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:248128815T>G uc010pzd.1 + 1 182 c.182T>G c.(181-183)ATC>AGC p.I61S OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 61 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) ATCATGCTGATCCACCTCATT 0.468 Melanoma(45;390 1181 23848 28461 41504) NA 78 127 0 0 0.00361 0 0 OR2L2 26246 broad.mit.edu 37 1 248201900 248201900 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:248201900G>A uc001idw.2 + 1 427 c.331G>A c.(331-333)GGG>AGG p.G111R OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) AGTTGCAGAAGGGCTGCTCCT 0.313 NA 73 45 0 0 0.00361 0 0 OR2T33 391195 broad.mit.edu 37 1 248436905 248436905 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr1:248436905A>T uc010pzi.1 - 1 212 c.212T>A c.(211-213)CTG>CAG p.L71Q NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 71 Helical; Name=2; (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) GGTGGAAACCAGCATCATGTC 0.552 NA 7 115 0 0 0.008291 0 0 FAM171A1 221061 broad.mit.edu 37 10 15326031 15326031 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:15326031G>A uc001iob.2 - 2 178 c.171C>T c.(169-171)TTC>TTT p.F57F NM_001010924 NP_001010924 Q5VUB5 F1711_HUMAN hypothetical protein LOC221061 precursor 57 Extracellular (Potential). integral to membrane ovary(2)|breast(1)|skin(1) 4 CCTGGTTGGTGAAGATCTCGA 0.552 NA 28 50 0 0 0.00632 0 0 ITGA8 8516 broad.mit.edu 37 10 15655727 15655727 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:15655727C>T uc001ioc.1 - 15 1485 c.1485G>A c.(1483-1485)CTG>CTA p.L495L ITGA8_uc010qcb.1_Silent_p.L480L NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 495 Extracellular (Potential).|FG-GAP 7. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 TCATTGGGTGCAGCAGAAGCT 0.413 NA 58 67 0 0 0.00361 0 0 SLC39A12 221074 broad.mit.edu 37 10 18292274 18292274 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:18292274C>T uc001ipo.2 + 12 2207 c.1934C>T c.(1933-1935)TCC>TTC p.S645F SLC39A12_uc001ipn.2_Missense_Mutation_p.S608F|SLC39A12_uc001ipp.2_Missense_Mutation_p.S644F|SLC39A12_uc010qck.1_Missense_Mutation_p.S511F|uc001ipq.1_RNA NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 645 Helical; (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TTATATTTATCCTTGGTTGAA 0.368 NA 30 64 0 0 0.008361 0 0 KIF5B 3799 broad.mit.edu 37 10 32328341 32328341 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:32328341C>G uc001iwe.3 - 4 777 c.307G>C c.(307-309)GAA>CAA p.E103Q NM_004521 NP_004512 P33176 KINH_HUMAN kinesin family member 5B 103 Kinesin-motor. stress granule disassembly|vesicle transport along microtubule kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle ATP binding|microtubule binding|microtubule motor activity KIF5B/ALK(4) lung(4)|ovary(1) 5 Prostate(175;0.0137) CCCATGCCTTCTGGATCATGA 0.259 NA 2 7 0 0 0.004672 0 0 GDF10 2662 broad.mit.edu 37 10 48438671 48438671 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:48438671G>T uc001jfb.2 - 1 496 c.40C>A c.(40-42)CCC>ACC p.P14T GDF10_uc009xnp.2_Missense_Mutation_p.P14T|GDF10_uc009xnq.1_Missense_Mutation_p.P14T NM_004962 NP_004953 P55107 BMP3B_HUMAN growth differentiation factor 10 precursor 14 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity lung(1)|central_nervous_system(1) 2 agcagcTGGGGCCCGGGTCCC 0.617 NA 9 9 1.58986e-06 2.01586e-06 0.008291 1 0 FAM13C 220965 broad.mit.edu 37 10 61112030 61112030 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:61112030C>A uc001jkn.2 - 4 458 c.324G>T c.(322-324)CAG>CAT p.Q108H FAM13C_uc001jko.2_Missense_Mutation_p.Q108H|FAM13C_uc010qid.1_Missense_Mutation_p.Q25H|FAM13C_uc010qie.1_Missense_Mutation_p.Q25H|FAM13C_uc010qif.1_Missense_Mutation_p.Q130H|FAM13C_uc001jkp.2_Missense_Mutation_p.Q25H NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 108 ovary(2) 2 GAGCTGCTACCTGACTTTCTC 0.562 NA 48 24 8.00217e-19 1.2401e-18 0.00361 1 0 CDH23 64072 broad.mit.edu 37 10 73468898 73468898 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:73468898C>A uc001jrx.3 + 26 3527 c.3150C>A c.(3148-3150)GCC>GCA p.A1050A CDH23_uc001jrz.2_Silent_p.A666A NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1050 Cadherin 10.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 ACCGCGATGCCGTTGTGAGAA 0.627 NA 41 25 1.30916e-28 2.14153e-28 0.00361 1 0 DPYSL4 10570 broad.mit.edu 37 10 134017425 134017425 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr10:134017425C>T uc009ybb.2 + 13 1775 c.1621C>T c.(1621-1623)CTA>TTA p.L541L NM_006426 NP_006417 O14531 DPYL4_HUMAN dihydropyrimidinase-like 4 541 axon guidance|pyrimidine base catabolic process cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides central_nervous_system(2) 2 all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206) GGGGTTCAGCCTATCTGGTGA 0.692 NA 71 37 0 0 0.00361 0 0 TPP1 1200 broad.mit.edu 37 11 6640117 6640117 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:6640117C>G uc001mel.1 - 3 180 c.119G>C c.(118-120)CGT>CCT p.R40P TPP1_uc001mek.1_5'UTR|TPP1_uc010rar.1_Missense_Mutation_p.R40P NM_000391 NP_000382 O14773 TPP1_HUMAN tripeptidyl-peptidase I preproprotein 40 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AGGGTCCGCACGGCCCAGGGA 0.587 NA 32 31 0 0 0.002836 0 0 PPFIBP2 8495 broad.mit.edu 37 11 7631629 7631629 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:7631629G>T uc001mfj.3 + 6 982 c.594G>T c.(592-594)CAG>CAT p.Q198H PPFIBP2_uc010rbb.1_Missense_Mutation_p.Q121H|PPFIBP2_uc001mfk.1_RNA|PPFIBP2_uc010rbc.1_Missense_Mutation_p.Q121H|PPFIBP2_uc010rbd.1_Missense_Mutation_p.Q40H|PPFIBP2_uc010rbe.1_Missense_Mutation_p.Q86H|PPFIBP2_uc001mfl.3_Missense_Mutation_p.Q55H NM_003621 NP_003612 Q8ND30 LIPB2_HUMAN PTPRF interacting protein, binding protein 2 198 Potential. cell communication|DNA integration intracellular DNA binding|integrase activity|protein binding ovary(2)|breast(2) 4 Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236) AGAGAGAGCAGGAGGAGAAGC 0.502 NA 43 38 4.42602e-33 7.37671e-33 0.00874 1 0 ABCC8 6833 broad.mit.edu 37 11 17464360 17464360 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:17464360C>A uc001mnc.2 - 10 1663 c.1537G>T c.(1537-1539)GCC>TCC p.A513S ABCC8_uc010rcy.1_Missense_Mutation_p.A512S NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 513 Cytoplasmic (By similarity).|ABC transmembrane type-1 1. carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) TTCTCCCAGGCGTACAGCTTC 0.597 NA 25 32 7.33532e-06 9.16915e-06 0.003954 1 0 SERGEF 26297 broad.mit.edu 37 11 17981157 17981157 + Nonsense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:17981157G>A uc001mnm.2 - 9 951 c.871C>T c.(871-873)CGA>TGA p.R291* SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Intron|SERGEF_uc010rcz.1_Intron|SERGEF_uc001mno.1_Nonsense_Mutation_p.R177* NM_012139 NP_036271 Q9UGK8 SRGEF_HUMAN deafness locus associated putative guanine 291 RCC1 6. negative regulation of protein secretion|signal transduction cytoplasm|nucleus protein binding|Ran guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 TAGTCTGCTCGGCCCCAGGTA 0.428 NA 5 30 0 0 0.001168 0 0 HPS5 11234 broad.mit.edu 37 11 18306904 18306904 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:18306904G>A uc001mod.1 - 20 3218 c.2940C>T c.(2938-2940)TGC>TGT p.C980C HPS5_uc001moe.1_Silent_p.C866C|HPS5_uc001mof.1_Silent_p.C866C NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 980 cytosol ovary(1)|pancreas(1)|skin(1) 3 CACAAGACCTGCAGATGTCTG 0.348 NA Hermansky-Pudlak_syndrome 21 9 0 0 0.001882 0 0 NELL1 4745 broad.mit.edu 37 11 21555938 21555938 + Missense_Mutation SNP A A C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:21555938A>C uc001mqe.2 + 16 1817 c.1664A>C c.(1663-1665)GAG>GCG p.E555A NELL1_uc001mqf.2_Intron|NELL1_uc009yid.2_Missense_Mutation_p.E583A|NELL1_uc010rdo.1_Missense_Mutation_p.E498A|NELL1_uc010rdp.1_Intron|NELL1_uc001mqh.2_Silent_p.R165R NM_006157 NP_006148 Q92832 NELL1_HUMAN nel-like 1 isoform 1 precursor 555 EGF-like 5; calcium-binding (Potential). cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity ovary(2)|large_intestine(1) 3 GAATGTTCAGAGGGAATCATT 0.458 NA 12 45 0 0 0.00245 0 0 NAT10 55226 broad.mit.edu 37 11 34139802 34139802 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:34139802C>T uc001mvk.2 + 7 877 c.633C>T c.(631-633)TCC>TCT p.S211S NAT10_uc010ren.1_Silent_p.S139S NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN N-acetyltransferase 10 isoform a 211 nucleolus ATP binding|N-acetyltransferase activity|protein binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) CCATCTCCTCCCACGTTGCCA 0.542 NA 32 34 0 0 0.00623 0 0 SPRYD5 84767 broad.mit.edu 37 11 55655715 55655715 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:55655715A>G uc010rip.1 + 4 807 c.715A>G c.(715-717)AAA>GAA p.K239E SPRYD5_uc010riq.1_Missense_Mutation_p.K96E NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 239 intracellular zinc ion binding 0 all_epithelial(135;0.226) AATGTGCCATAAAGCAGATGT 0.443 NA 13 14 0 0 0.003163 0 0 OR8K1 390157 broad.mit.edu 37 11 56113597 56113597 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:56113597G>A uc010rjg.1 + 1 83 c.83G>A c.(82-84)GGG>GAG p.G28E NM_001002907 NP_001002907 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, 28 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1) 2 Esophageal squamous(21;0.00448) GACAACCCTGGGCTGCAGGCT 0.458 NA HNSCC(65;0.19) 5 26 0 0 0.001168 0 0 OR5M10 390167 broad.mit.edu 37 11 56345063 56345063 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:56345063C>A uc001niz.1 - 1 135 c.135G>T c.(133-135)ATG>ATT p.M45I NM_001004741 NP_001004741 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCAGCAGGATCATGCACAGGT 0.473 NA 44 17 1.03325e-14 1.52117e-14 0.002852 1 0 GIF 2694 broad.mit.edu 37 11 59603316 59603316 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:59603316G>T uc001noi.2 - 7 1086 c.1038C>A c.(1036-1038)GTC>GTA p.V346V NM_005142 NP_005133 P27352 IF_HUMAN gastric intrinsic factor (vitamin B synthesis) 346 cobalamin metabolic process|cobalamin transport|cobalt ion transport apical plasma membrane|endosome|extracellular space|microvillus cobalamin binding ovary(1)|liver(1) 2 CTTCCTCTAGGACAACAAGTA 0.413 NSCLC(53;1139 1245 16872 38474 42853) NA 41 54 3.05275e-18 4.67617e-18 0.003214 1 0 USP35 57558 broad.mit.edu 37 11 77911202 77911202 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:77911202C>T uc009yva.1 + 5 1206 c.960C>T c.(958-960)CCC>CCT p.P320P USP35_uc001oze.2_Silent_p.P76P|USP35_uc001ozc.2_Intron|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_5'UTR|USP35_uc001ozf.2_Silent_p.P51P NM_020798 NP_065849 Q9P2H5 UBP35_HUMAN ubiquitin specific protease 35 320 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|ovary(1) 3 all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152) OV - Ovarian serous cystadenocarcinoma(8;1.04e-25) TGCTGTACCCCATCGTCCGGG 0.582 NA 15 118 0 0 0.004007 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533394 94533394 + Silent SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:94533394C>G uc001pfb.2 + 3 1208 c.1038C>G c.(1036-1038)GTC>GTG p.V346V AMOTL1_uc001pfc.2_Silent_p.V296V NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 346 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) ACGAGATGGTCAAGCCCTACC 0.567 NA 27 190 0 0 0.007291 0 0 AMOTL1 154810 broad.mit.edu 37 11 94533413 94533413 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:94533413C>G uc001pfb.2 + 3 1227 c.1057C>G c.(1057-1059)CAG>GAG p.Q353E AMOTL1_uc001pfc.2_Missense_Mutation_p.Q303E NM_130847 NP_570899 Q8IY63 AMOL1_HUMAN angiomotin like 1 353 cytoplasm|tight junction identical protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824) CCCTGCTCCTCAGCCTGTGAG 0.567 NA 24 176 0 0 0.00333 0 0 EXPH5 23086 broad.mit.edu 37 11 108384059 108384059 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:108384059T>A uc001pkk.2 - 6 2286 c.2175A>T c.(2173-2175)GAA>GAT p.E725D EXPH5_uc010rvy.1_Missense_Mutation_p.E537D|EXPH5_uc010rvz.1_Missense_Mutation_p.E569D|EXPH5_uc010rwa.1_Missense_Mutation_p.E649D NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 725 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTTGGGGTATTTCACCTGCCT 0.403 NA 7 62 0 0 0.001984 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123485517 123485517 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr11:123485517C>A uc001pyx.2 + 16 2192 c.1863C>A c.(1861-1863)TCC>TCA p.S621S GRAMD1B_uc001pyw.2_Silent_p.S628S|GRAMD1B_uc010rzw.1_Silent_p.S581S|GRAMD1B_uc010rzx.1_Silent_p.S581S|GRAMD1B_uc001pyy.2_Silent_p.S312S NM_020716 NP_065767 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 621 integral to membrane ovary(1) 1 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) AGAGCGTGTCCAAGCTGCTGC 0.567 NA 10 3 1.76689e-08 2.3529e-08 0.006214 1 0 ITFG2 55846 broad.mit.edu 37 12 2930756 2930756 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:2930756C>G uc001qlb.1 + 8 905 c.841C>G c.(841-843)CTG>GTG p.L281V ITFG2_uc010seb.1_Missense_Mutation_p.L104V|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 281 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) CCTGTGCACCCTGGATGGTGA 0.612 NA 33 65 0 0 0.003755 0 0 ITFG2 55846 broad.mit.edu 37 12 2930955 2930955 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:2930955C>T uc001qlb.1 + 9 1009 c.945C>T c.(943-945)GTC>GTT p.V315V ITFG2_uc010seb.1_Silent_p.V138V|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 315 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) AACTGGATGTCACCGTGAGTG 0.502 NA 48 78 0 0 0.00361 0 0 TEAD4 7004 broad.mit.edu 37 12 3129844 3129844 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:3129844C>T uc010sej.1 + 9 902 c.625C>T c.(625-627)CCG>TCG p.P209S TEAD4_uc010sek.1_Missense_Mutation_p.P166S|TEAD4_uc001qln.2_Missense_Mutation_p.P81S NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 210 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CTCTGCGCCCCCGGCACCCCC 0.672 NA 39 24 0 0 0.00623 0 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|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.G12N(6)|p.G12G(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) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 5 7 8.12818e-05 9.44723e-05 0.001984 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43846406 43846406 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:43846406C>A uc010skx.1 - 13 1853 c.1853G>T c.(1852-1854)CGA>CTA p.R618L NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 618 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCTTCTCTCGAAAGTCTTG 0.423 NA 15 22 1.49906e-05 1.82225e-05 0.00245 1 0 COL2A1 1280 broad.mit.edu 37 12 48369227 48369227 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:48369227G>A uc001rqu.2 - 51 3940 c.3759C>T c.(3757-3759)GCC>GCT p.A1253A COL2A1_uc001rqt.2_Silent_p.A34A|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Silent_p.A1184A NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1253 Fibrillar collagen NC1. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CATCCACCTCGGCGTCATGCT 0.647 NA 17 74 0 0 0.001523 0 0 KRT79 338785 broad.mit.edu 37 12 53216924 53216924 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:53216924G>T uc001sbb.2 - 7 1276 c.1243C>A c.(1243-1245)CTG>ATG p.L415M KRT79_uc001sba.2_Missense_Mutation_p.L186M NM_175834 NP_787028 Q5XKE5 K2C79_HUMAN keratin 6L 415 Rod.|Coil 2. keratin filament structural molecule activity ovary(2)|skin(2) 4 GCCTGGTGCAGGGCCACATCC 0.612 NA 30 36 1.7881e-09 2.42998e-09 0.008361 1 0 KIF5A 3798 broad.mit.edu 37 12 57969439 57969439 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:57969439G>T uc001sor.1 + 17 2130 c.1922G>T c.(1921-1923)CGC>CTC p.R641L KIF5A_uc010srr.1_Missense_Mutation_p.R552L NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 641 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 GCCAAGATCCGCTCGCTTACG 0.557 NA 25 141 1.36565e-18 2.10405e-18 0.00278 1 0 BEST3 144453 broad.mit.edu 37 12 70087509 70087509 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:70087509C>T uc001svg.2 - 4 653 c.426G>A c.(424-426)TCG>TCA p.S142S BEST3_uc001svd.1_Silent_p.S142S|BEST3_uc001sve.1_RNA|BEST3_uc010stm.1_Silent_p.S36S|BEST3_uc001svh.2_5'UTR|BEST3_uc001svi.1_RNA NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 142 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CAGTGCTCACCGAGCGAAAGA 0.527 NA 5 48 0 0 0.001984 0 0 ZMYM5 9205 broad.mit.edu 37 13 20426052 20426052 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:20426052T>C uc010tcn.1 - 3 534 c.269A>G c.(268-270)GAA>GGA p.E90G ZMYM5_uc001umm.1_5'UTR|ZMYM5_uc001umn.2_Missense_Mutation_p.E90G|ZMYM5_uc001umo.2_Missense_Mutation_p.E90G NM_001142684 NP_001136156 Q9UJ78 ZMYM5_HUMAN zinc finger protein 237 isoform 3 90 nucleus zinc ion binding 0 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTGAGGCTTTTCATTTTTTGA 0.313 NA 10 19 0 0 0.006214 0 0 PCDH8 5100 broad.mit.edu 37 13 53421573 53421573 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:53421573G>T uc001vhi.2 - 1 1202 c.999C>A c.(997-999)CCC>CCA p.P333P PCDH8_uc001vhj.2_Silent_p.P333P NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 333 Extracellular (Potential).|Cadherin 3. cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) TGGCAGCGCGGGGCCCGGGTC 0.721 GBM(36;25 841 9273 49207) NA 13 10 3.41278e-10 4.66179e-10 0.00499 1 0 DOCK9 23348 broad.mit.edu 37 13 99489762 99489762 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:99489762T>G uc001vnt.2 - 39 4289 c.4234A>C c.(4234-4236)ACA>CCA p.T1412P DOCK9_uc001vnw.2_Missense_Mutation_p.T1411P|DOCK9_uc001vnv.1_RNA|DOCK9_uc010tir.1_Missense_Mutation_p.T1412P|DOCK9_uc001vnq.2_5'UTR|DOCK9_uc001vnr.2_Missense_Mutation_p.T55P|DOCK9_uc010tin.1_Missense_Mutation_p.T55P|DOCK9_uc001vns.2_5'UTR|DOCK9_uc010tio.1_Missense_Mutation_p.T104P|DOCK9_uc010tip.1_Missense_Mutation_p.T122P|DOCK9_uc001vnu.1_5'UTR|DOCK9_uc010tiq.1_Missense_Mutation_p.T390P NM_015296 NP_056111 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 isoform a 1412 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity central_nervous_system(1) 1 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) AACGCCAATGTAAATAGAGAA 0.433 NA 8 13 0 0 0.004482 0 0 TMTC4 84899 broad.mit.edu 37 13 101277801 101277801 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr13:101277801G>C uc001vou.2 - 14 1927 c.1767C>G c.(1765-1767)AAC>AAG p.N589K TMTC4_uc001vot.2_Missense_Mutation_p.N608K|TMTC4_uc010tja.1_Missense_Mutation_p.N478K|TMTC4_uc001vov.1_Missense_Mutation_p.N334K|TMTC4_uc001vow.1_Missense_Mutation_p.N372K NM_001079669 NP_001073137 Q5T4D3 TMTC4_HUMAN transmembrane and tetratricopeptide repeat 589 TPR 5. integral to membrane binding ovary(2)|breast(1) 3 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) GACGCCCGAGGTTGTAGTAAC 0.458 NA 22 26 0 0 0.003954 0 0 POTEG 404785 broad.mit.edu 37 14 19553788 19553788 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:19553788C>T uc001vuz.1 + 1 424 c.372C>T c.(370-372)GAC>GAT p.D124D POTEG_uc001vva.1_RNA|POTEG_uc010ahc.1_RNA NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN POTE ankyrin domain family, member G 124 ovary(1) 1 GAGACTACGACGACAGCGCTT 0.592 NA 64 575 0 0 0.00361 0 0 OR4N2 390429 broad.mit.edu 37 14 20295901 20295901 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:20295901C>A uc010tkv.1 + 1 294 c.294C>A c.(292-294)ATC>ATA p.I98I NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGGCTGCATCACTCAGCTCT 0.532 NA 111 61 4.58075e-42 7.73183e-42 0.00361 1 0 FRMD6 122786 broad.mit.edu 37 14 52169297 52169297 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:52169297G>C uc001wzd.2 + 5 647 c.362G>C c.(361-363)AGA>ACA p.R121T FRMD6_uc001wzb.2_Missense_Mutation_p.R113T|FRMD6_uc001wzc.2_Missense_Mutation_p.R113T|FRMD6_uc001wze.2_Missense_Mutation_p.R44T NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 121 FERM. cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GAAAATGGCAGATTGATCAGG 0.299 NA 49 178 0 0 0.00361 0 0 KIAA0586 9786 broad.mit.edu 37 14 58965518 58965518 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:58965518G>T uc001xdv.3 + 26 4053 c.3780G>T c.(3778-3780)GTG>GTT p.V1260V KIAA0586_uc010trr.1_Silent_p.V1377V|KIAA0586_uc001xdt.3_Silent_p.V1292V|KIAA0586_uc001xdu.3_Silent_p.V1321V|KIAA0586_uc010trs.1_Silent_p.V1251V|KIAA0586_uc010trt.1_Silent_p.V1196V NM_014749 NP_055564 E9PGW8 E9PGW8_HUMAN talpid3 protein 1260 ovary(1) 1 AAAACAGTGTGGGTGAACTTA 0.378 NA 9 18 3.86212e-05 4.58951e-05 0.008291 1 0 SLC8A3 6547 broad.mit.edu 37 14 70634240 70634240 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:70634240G>C uc001xly.2 - 2 1654 c.900C>G c.(898-900)AAC>AAG p.N300K SLC8A3_uc001xlw.2_Missense_Mutation_p.N300K|SLC8A3_uc001xlx.2_Missense_Mutation_p.N300K|SLC8A3_uc001xlz.2_Missense_Mutation_p.N300K|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 300 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) GGGGCACCAGGTTCCCATCTA 0.483 NA 24 52 0 0 0.005443 0 0 HHIPL1 84439 broad.mit.edu 37 14 100129272 100129272 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:100129272G>A uc010avs.2 + 6 1627 c.1562G>A c.(1561-1563)TGC>TAC p.C521Y HHIPL1_uc001ygl.1_Missense_Mutation_p.C521Y NM_001127258 NP_001120730 Q96JK4 HIPL1_HUMAN HHIP-like protein 1 isoform a 521 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity skin(2) 2 Melanoma(154;0.128) AGTGAGATCTGCATGGGCCAC 0.592 NA 6 56 0 0 0.001168 0 0 CINP 51550 broad.mit.edu 37 14 102822165 102822165 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:102822165C>A uc001ylv.1 - 3 311 c.246G>T c.(244-246)CTG>CTT p.L82L CINP_uc001ylu.1_RNA NM_032630 NP_116019 Q9BW66 CINP_HUMAN cyclin-dependent kinase 2-interacting protein 82 Potential. cell cycle|cell division|DNA repair|DNA replication nucleus protein binding large_intestine(1) 1 CGTTATATTCCAGACACACCT 0.438 NA 58 39 1.87854e-15 2.79671e-15 0.00361 1 0 KLC1 3831 broad.mit.edu 37 14 104129247 104129247 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:104129247C>T uc001yno.2 + 5 1088 c.780C>T c.(778-780)ATC>ATT p.I260I KLC1_uc010tyd.1_Silent_p.I419I|KLC1_uc010tye.1_Silent_p.I256I|KLC1_uc001ynm.1_Silent_p.I260I|KLC1_uc001ynn.1_Silent_p.I256I|KLC1_uc010tyf.1_Silent_p.I260I NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 260 TPR 2. blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) TGCTCAACATCCTGGCCTTGG 0.493 NA 5 30 0 0 0.000602 0 0 PPP1R13B 23368 broad.mit.edu 37 14 104206652 104206652 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr14:104206652C>T uc001yof.1 - 12 2384 c.2101G>A c.(2101-2103)GCG>ACG p.A701T PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Missense_Mutation_p.A568T NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 701 Pro-rich. apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GGCCGGGGCGCGTTGGCCAGC 0.667 NA 7 133 0 0 0.001984 0 0 C15orf2 23742 broad.mit.edu 37 15 24921213 24921213 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:24921213G>T uc001ywo.2 + 1 673 c.199G>T c.(199-201)GCC>TCC p.A67S NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 67 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CATCTTCGTCGCCCCTAAGAG 0.716 NA 16 36 5.01169e-05 5.90266e-05 0.00499 1 0 PLCB2 5330 broad.mit.edu 37 15 40586571 40586571 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:40586571C>A uc001zld.2 - 19 2258 c.1957G>T c.(1957-1959)GGC>TGC p.G653C PLCB2_uc010bbo.2_Missense_Mutation_p.G649C|PLCB2_uc010ucm.1_Missense_Mutation_p.G653C NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 653 PI-PLC Y-box. activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) AGGAGGTAGCCGCTCTGCCCG 0.597 NA 7 33 0.00198382 0.00222759 0.001984 1 0 ADAL 161823 broad.mit.edu 37 15 43632517 43632517 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:43632517C>A uc010udo.1 + 7 884 c.310C>A c.(310-312)CTA>ATA p.L104I ADAL_uc001zrh.2_Missense_Mutation_p.L104I|ADAL_uc001zri.1_5'UTR NM_001159280 NP_001152752 Q6DHV7 ADAL_HUMAN adenosine deaminase-like isoform 1 104 adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process adenosine deaminase activity|metal ion binding 0 all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;9.31e-07) GTACCTGGAACTAAGGAGCAC 0.373 NA 16 30 7.07596e-05 8.29703e-05 0.006122 1 0 HDC 3067 broad.mit.edu 37 15 50545802 50545802 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:50545802G>T uc001zxz.2 - 7 888 c.782C>A c.(781-783)CCC>CAC p.P261H HDC_uc001zxy.2_5'Flank|HDC_uc010uff.1_Missense_Mutation_p.P261H|HDC_uc010bet.1_Missense_Mutation_p.P182H NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 261 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) CTTACAGATGGGGCCCAGCTC 0.478 GBM(95;1627 1936 6910 9570) NA 24 40 2.50493e-22 3.97489e-22 0.004656 1 0 CYP1A2 1544 broad.mit.edu 37 15 75045584 75045584 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:75045584T>C uc002ayr.1 + 6 1290 c.1226T>C c.(1225-1227)GTA>GCA p.V409A NM_000761 NP_000752 P05177 CP1A2_HUMAN cytochrome P450, family 1, subfamily A, 409 alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding ovary(3)|breast(1) 4 Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315) TGTGTCTTCGTAAACCAGTGG 0.522 NA 3 29 0 0 0.004672 0 0 MMP25 64386 broad.mit.edu 37 16 3107375 3107375 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr16:3107375C>T uc002cth.2 + 6 1140 c.903C>T c.(901-903)CCC>CCT p.P301P uc002ctj.1_Intron NM_022468 NP_071913 Q9NPA2 MMP25_HUMAN matrix metalloproteinase 25 preproprotein 301 inflammatory response|proteolysis anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding 0 CGCCCCAGCCCCCGGCCTCGC 0.652 NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336) NA 4 89 0 0 0.000602 0 0 CYLD 1540 broad.mit.edu 37 16 50830353 50830353 + Silent SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr16:50830353A>G uc002egp.1 + 19 3220 c.2805A>G c.(2803-2805)GCA>GCG p.A935A CYLD_uc002egq.1_Silent_p.A932A|CYLD_uc002egr.1_Silent_p.A932A NM_015247 NP_056062 Q9NQC7 CYLD_HUMAN ubiquitin carboxyl-terminal hydrolase CYLD 935 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) AAGGCTGTGCACGAAGACTGC 0.468 NA Mis|N|F|S cylindroma cylindroma Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial 20 32 0 0 0.007413 0 0 PHLPP2 23035 broad.mit.edu 37 16 71748668 71748668 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr16:71748668T>G uc002fax.2 - 1 37 c.31A>C c.(31-33)AAT>CAT p.N11H PHLPP2_uc010cgf.2_Missense_Mutation_p.N11H|PHLPP2_uc002fay.1_Missense_Mutation_p.N11H NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 11 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 CTTCTCCTATTCAAACAATTT 0.388 NA 22 21 0 0 0.00333 0 0 C17orf68 80169 broad.mit.edu 37 17 8132685 8132685 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:8132685T>G uc002gkq.3 - 19 3150 c.3091A>C c.(3091-3093)ATC>CTC p.I1031L C17orf68_uc010cnv.2_RNA NM_025099 NP_079375 Q2NKJ3 CTC1_HUMAN alpha accessory factor 132 1031 positive regulation of DNA replication|telomere maintenance Stn1-Ten1 complex protein binding|single-stranded DNA binding 0 ACAGAGACGATATGGCAAGAG 0.532 NA 4 94 0 0 0.000248 0 0 Unknown 0 broad.mit.edu 37 17 21731186 21731186 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:21731186A>G uc002gyy.3 + 2 613 c.488A>G c.(487-489)AAG>AGG p.K163R SubName: Full=cDNA FLJ51326, highly similar to Homo sapiens ubiquitin B (UBB), mRNA; NA CTGACCGGCAAGACCATCACC 0.532 NA 10 83 0 0 0.000978 0 0 ACACA 31 broad.mit.edu 37 17 35640264 35640264 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:35640264G>T uc002hnm.2 - 5 594 c.403C>A c.(403-405)CGG>AGG p.R135R ACACA_uc002hnk.2_Silent_p.R57R|ACACA_uc002hnl.2_Silent_p.R77R|ACACA_uc002hnn.2_Silent_p.R135R|ACACA_uc002hno.2_Silent_p.R172R|ACACA_uc010cuz.2_Silent_p.R135R|ACACA_uc002hnq.2_Silent_p.R57R NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 135 Biotin carboxylation. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CGGATAGACCGCATGCATTTC 0.448 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 13 44 6.31663e-08 8.24584e-08 0.003163 1 0 SAMD14 201191 broad.mit.edu 37 17 48195572 48195572 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:48195572C>T uc002iqg.2 - 3 462 c.163G>A c.(163-165)GCC>ACC p.A55T SAMD14_uc002iqd.2_5'Flank|SAMD14_uc002iqe.2_5'UTR|SAMD14_uc002iqf.2_Missense_Mutation_p.A55T NM_174920 NP_777580 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 55 0 GCGGAGCTGGCACTGTCCCGA 0.637 NA 34 47 0 0 0.005524 0 0 SCPEP1 59342 broad.mit.edu 37 17 55083594 55083594 + Nonstop_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:55083594T>C uc002iuv.3 + 13 1410 c.1357T>C c.(1357-1359)TAG>CAG p.*453Q SCPEP1_uc010dcl.2_RNA|SCPEP1_uc010wnk.1_Nonstop_Mutation_p.*403Q NM_021626 NP_067639 Q9HB40 RISC_HUMAN serine carboxypeptidase 1 precursor 453 proteolysis extracellular region serine-type carboxypeptidase activity skin(1) 1 Breast(9;2.86e-08) TCAGCAAGAATAGGATGGATG 0.512 NA 22 85 0 0 0.002299 0 0 LPIN2 9663 broad.mit.edu 37 18 2922113 2922113 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:2922113G>A uc002klo.2 - 17 2498 c.2259C>T c.(2257-2259)GAC>GAT p.D753D NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 753 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) TTGTGCCCTTGTCATTGACCC 0.607 NA 7 51 0 0 0.001984 0 0 DSC3 1825 broad.mit.edu 37 18 28588372 28588372 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:28588372A>T uc002kwj.3 - 10 1538 c.1383T>A c.(1381-1383)CAT>CAA p.H461Q DSC3_uc002kwi.3_Missense_Mutation_p.H461Q NM_001941 NP_001932 Q14574 DSC3_HUMAN desmocollin 3 isoform Dsc3a preproprotein 461 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding ovary(2)|skin(2) 4 OV - Ovarian serous cystadenocarcinoma(10;0.125) GATCCCTCACATGAACTGTAA 0.473 NA 26 24 0 0 0.00333 0 0 DSG3 1830 broad.mit.edu 37 18 29046694 29046694 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:29046694T>G uc002kws.2 + 11 1722 c.1613T>G c.(1612-1614)GTA>GGA p.V538G NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 538 Extracellular (Potential). cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTGCCTGCCGTATGGAGTATC 0.408 NA 12 50 0 0 0.001368 0 0 KLHL14 57565 broad.mit.edu 37 18 30349741 30349741 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:30349741G>T uc002kxm.1 - 2 1202 c.814C>A c.(814-816)CCG>ACG p.P272T NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 272 BACK. cytosol|endoplasmic reticulum membrane ovary(1) 1 ACCAGCTCCGGGGCCGGGATG 0.637 NA 16 40 2.31682e-05 2.79072e-05 0.003163 1 0 ASXL3 80816 broad.mit.edu 37 18 31326095 31326095 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:31326095G>A uc010dmg.1 + 12 6338 c.6283G>A c.(6283-6285)GAA>AAA p.E2095K ASXL3_uc002kxq.2_Missense_Mutation_p.E1802K NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2095 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CAGCAGCTGTGAACTGGGCAT 0.408 NA 46 40 0 0 0.00361 0 0 ASXL3 80816 broad.mit.edu 37 18 31326451 31326451 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:31326451C>T uc010dmg.1 + 12 6694 c.6639C>T c.(6637-6639)TGC>TGT p.C2213C ASXL3_uc002kxq.2_Silent_p.C1920C NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2213 PHD-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 AACTGAAATGCTCTTGCCGGC 0.522 NA 34 28 0 0 0.002445 0 0 ASXL3 80816 broad.mit.edu 37 18 31326453 31326453 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr18:31326453C>T uc010dmg.1 + 12 6696 c.6641C>T c.(6640-6642)TCT>TTT p.S2214F ASXL3_uc002kxq.2_Missense_Mutation_p.S1921F NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 2214 PHD-type; atypical. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CTGAAATGCTCTTGCCGGCTG 0.517 NA 36 31 0 0 0.003271 0 0 STK11 6794 broad.mit.edu 37 19 1220370 1220370 + Splice_Site SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:1220370A>T uc002lrl.1 + 4 1580 c.465_splice c.e4-2 p.G155_splice NM_000455 NP_000446 Q15831 STK11_HUMAN serine/threonine protein kinase 11 anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(19)|p.?(3) lung(174)|cervix(35)|skin(15)|large_intestine(12)|pancreas(6)|gastrointestinal_tract_(site_indeterminate)(5)|stomach(4)|ovary(4)|breast(2)|upper_aerodigestive_tract(1)|testis(1)|liver(1)|biliary_tract(1)|small_intestine(1)|urinary_tract(1)|oesophagus(1)|prostate(1)|kidney(1) 266 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TGCTGCCCGCAGGTACTTCTG 0.652 14 D|Mis|N|F|S NSCLC|pancreatic jejunal harmartoma|ovarian|testicular|pancreatic Peutz-Jeghers_syndrome TSP Lung(3;<1E-08) 15 1 0 0 0.004007 0 0 MUC16 94025 broad.mit.edu 37 19 9061703 9061703 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:9061703C>A uc002mkp.2 - 3 25947 c.25743G>T c.(25741-25743)GAG>GAT p.E8581D NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8583 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGAGATGCTCTCTGGTAATG 0.522 NA 15 30 3.27435e-08 4.31693e-08 0.00245 1 0 MUC16 94025 broad.mit.edu 37 19 9082974 9082974 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:9082974G>T uc002mkp.2 - 1 9045 c.8841C>A c.(8839-8841)GCC>GCA p.A2947A NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 2948 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGCACTTATGGCCTTTGTGG 0.493 NA 18 65 1.99824e-07 2.57055e-07 0.00499 1 0 PKN1 5585 broad.mit.edu 37 19 14569148 14569149 + Nonsense_Mutation DNP GC GC CT TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:14569148_14569149GC>CT uc002myp.2 + 9 1548_1549 c.1380_1381GC>CT c.(1378-1383)GTGCAG>GTCTAG p.Q461* PKN1_uc002myq.2_Nonsense_Mutation_p.Q467* NM_002741 NP_002732 Q16512 PKN1_HUMAN protein kinase N1 isoform 2 461 C2. activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent endosome|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding ovary(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 GGCATGAGGTGCAGCTGGACAT 0.569 NSCLC(185;2539 2965 10733 52867) NA 11 19 0 0 0.004672 0 0 ZNF676 163223 broad.mit.edu 37 19 22363718 22363718 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:22363718G>T uc002nqs.1 - 3 1119 c.801C>A c.(799-801)ACC>ACA p.T267T NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 267 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) GTGTATTAAGGGTTGAGACGC 0.388 NA 30 10 5.60225e-13 7.9817e-13 0.001786 1 0 ZNF676 163223 broad.mit.edu 37 19 22379435 22379435 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:22379435T>A uc002nqs.1 - 1 319 c.1A>T c.(1-3)ATG>TTG p.M1L NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 1 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTCTCTAACATCACATTCCTA 0.368 NA 60 21 0 0 0.00361 0 0 LGALS4 3960 broad.mit.edu 37 19 39292738 39292738 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:39292738C>T uc002ojg.2 - 9 933 c.719G>A c.(718-720)CGC>CAC p.R240H NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 240 Galectin 2. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GTTGCCCATGCGGGGATTAAT 0.562 NA 22 20 0 0 0.001523 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39911746 39911746 + Silent SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:39911746A>T uc010xuz.1 + 15 1804 c.1479A>T c.(1477-1479)CCA>CCT p.P493P PLEKHG2_uc010xuy.1_Silent_p.P434P|PLEKHG2_uc002olj.2_Silent_p.P493P|PLEKHG2_uc010xva.1_Intron NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 493 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCATGTTCCCACAGAACGGTC 0.637 NA 11 9 0 0 0.000978 0 0 PSG7 5676 broad.mit.edu 37 19 43439788 43439788 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:43439788G>T uc002ovl.3 - 2 300 c.198C>A c.(196-198)ATC>ATA p.I66I PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 66 Ig-like V-type. female pregnancy extracellular region 0 Prostate(69;0.00682) CTTTGTACCAGATGTGGCCAG 0.438 NA 116 83 1.39691e-52 2.37295e-52 0.00361 1 0 ZNF234 10780 broad.mit.edu 37 19 44661481 44661481 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:44661481C>T uc002oym.2 + 6 1619 c.1312C>T c.(1312-1314)CGT>TGT p.R438C ZNF234_uc002oyl.3_Missense_Mutation_p.R438C NM_006630 NP_006621 Q14588 ZN234_HUMAN zinc finger protein 234 438 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0435) TAAAGCCTTCCGTCAGAGTTC 0.418 NA 6 33 0 0 0.001168 0 0 ZNF432 9668 broad.mit.edu 37 19 52537513 52537513 + Silent SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:52537513A>G uc002pyk.2 - 5 1737 c.1419T>C c.(1417-1419)ATT>ATC p.I473I NM_014650 NP_055465 O94892 ZN432_HUMAN zinc finger protein 432 473 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|pancreas(1) 3 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCTGATGTACAATCAGCCGAC 0.463 NA 8 28 0 0 0.00308 0 0 ZNF480 147657 broad.mit.edu 37 19 52826033 52826033 + Silent SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:52826033T>G uc010ydl.1 + 5 1600 c.1530T>G c.(1528-1530)CCT>CCG p.P510P ZNF480_uc002pyv.2_Silent_p.P433P|ZNF480_uc010ydm.1_Silent_p.P467P|ZNF480_uc010epn.2_Silent_p.P341P|uc002pyw.1_Intron NM_144684 NP_653285 Q8WV37 ZN480_HUMAN zinc finger protein 480 510 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) GAGAGAAACCTTACAAATGTA 0.393 NA 6 18 0 0 0.001984 0 0 VN1R2 317701 broad.mit.edu 37 19 53761983 53761983 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:53761983T>A uc002qbi.2 + 1 439 c.355T>A c.(355-357)TAC>AAC p.Y119N NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 119 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) CTTTAGGGGATACAAGCCAAG 0.353 NA 11 6 0 0 0.001368 0 0 ZNF835 90485 broad.mit.edu 37 19 57175427 57175427 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr19:57175427G>A uc010ygo.1 - 2 1206 c.1206C>T c.(1204-1206)CAC>CAT p.H402H ZNF835_uc010ygn.1_Silent_p.H380H NM_001005850 NP_001005850 zinc finger protein 835 pancreas(3)|skin(1) 4 GCACGAGGCGGTGCTGGAGGA 0.672 NA 3 24 0 0 0.004672 0 0 VSNL1 7447 broad.mit.edu 37 2 17836533 17836533 + Missense_Mutation SNP C C G rs146113368 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:17836533C>G uc002rcm.2 + 4 832 c.448C>G c.(448-450)CGA>GGA p.R150G NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 150 EF-hand 4. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) GCCTGAGCAGCGAGTAGACAA 0.413 NA 14 32 0 0 0.001855 0 0 SFXN5 94097 broad.mit.edu 37 2 73268002 73268002 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:73268002G>A uc002siq.2 - 3 361 c.230C>T c.(229-231)CCG>CTG p.P77L SFXN5_uc002sio.2_5'UTR|SFXN5_uc010yrc.1_5'UTR|SFXN5_uc002sip.2_RNA|SFXN5_uc010fet.2_Missense_Mutation_p.P77L NM_144579 NP_653180 Q8TD22 SFXN5_HUMAN sideroflexin 5 77 iron ion homeostasis integral to membrane cation transmembrane transporter activity ovary(1) 1 GGTGACCCCCGGGCGCAGGGT 0.557 NA 4 31 0 0 0.000602 0 0 ALMS1 7840 broad.mit.edu 37 2 73681086 73681086 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:73681086T>G uc002sje.1 + 10 7546 c.7435T>G c.(7435-7437)TCA>GCA p.S2479A ALMS1_uc002sjf.1_Missense_Mutation_p.S2435A|ALMS1_uc002sjg.2_Missense_Mutation_p.S1865A|ALMS1_uc002sjh.1_Missense_Mutation_p.S1865A NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2477 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 CAGTGTAGATTCACTGGCTGC 0.448 NA 6 24 0 0 0.001168 0 0 MTHFD2 10797 broad.mit.edu 37 2 74441254 74441254 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:74441254G>A uc002skk.2 + 8 1017 c.938G>A c.(937-939)GGC>GAC p.G313D SLC4A5_uc002skl.2_Intron|MTHFD2_uc002skj.2_Missense_Mutation_p.G211D|MTHFD2_uc010yro.1_Missense_Mutation_p.G211D|MTHFD2_uc010ffb.2_Missense_Mutation_p.G230D|MTHFD2_uc010yrp.1_Missense_Mutation_p.G149D NM_006636 NP_006627 P13995 MTDC_HUMAN methylenetetrahydrofolate dehydrogenase 2 313 folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding 0 NADH(DB00157)|Tetrahydrofolic acid(DB00116) GGAGGTGTTGGCCCCATGACA 0.463 NA 28 106 0 0 0.005443 0 0 CTNNA2 1496 broad.mit.edu 37 2 80773043 80773043 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:80773043C>A uc010ysh.1 + 10 1400 c.1395C>A c.(1393-1395)GCC>GCA p.A465A CTNNA2_uc010yse.1_Silent_p.A465A|CTNNA2_uc010ysf.1_Silent_p.A465A|CTNNA2_uc010ysg.1_Silent_p.A465A|CTNNA2_uc010ysi.1_Silent_p.A97A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 465 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCATCAATGCCGCTCTGACAC 0.498 NA 14 19 6.31663e-08 8.24584e-08 0.003163 1 0 NMS 129521 broad.mit.edu 37 2 101089998 101089998 + Silent SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:101089998T>G uc002tan.1 + 3 187 c.180T>G c.(178-180)CCT>CCG p.P60P NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN neuromedin S precursor 60 neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region ovary(1) 1 CTCGCCAACCTAAGGTAAAAA 0.274 NA 4 13 0 0 0.000602 0 0 SLC9A4 389015 broad.mit.edu 37 2 103149083 103149083 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:103149083C>A uc002tbz.3 + 12 2790 c.2333C>A c.(2332-2334)ACA>AAA p.T778K NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen 778 Cytoplasmic (Potential). regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 TCGAGGTGGACAGCTGACCAT 0.498 NA 13 6 0.00185496 0.0021007 0.001855 1 0 LRP1B 53353 broad.mit.edu 37 2 140992400 140992400 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:140992400C>T uc002tvj.1 - 90 14586 c.13614G>A c.(13612-13614)CCG>CCA p.P4538P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4538 Cytoplasmic (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ggtagatgggcggcgctgtgt 0.05 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 14 39 0 0 0.00499 0 0 MBD5 55777 broad.mit.edu 37 2 149227121 149227121 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:149227121A>T uc002twm.3 + 9 2597 c.1609A>T c.(1609-1611)AGC>TGC p.S537C MBD5_uc010zbs.1_RNA|MBD5_uc010fns.2_Missense_Mutation_p.S537C|MBD5_uc002twn.1_Translation_Start_Site NM_018328 NP_060798 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 537 chromosome|nucleus chromatin binding|DNA binding skin(3)|ovary(2) 5 BRCA - Breast invasive adenocarcinoma(221;0.0569) AAATACCCCAAGCAGTGCAGC 0.438 NA 24 40 0 0 0.002299 0 0 NEB 4703 broad.mit.edu 37 2 152548676 152548676 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:152548676C>G uc010fnx.2 - 22 2194 c.2003G>C c.(2002-2004)AGA>ACA p.R668T NEB_uc010fny.1_Missense_Mutation_p.R222T NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 668 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GTCTTTATATCTAGCCTGAAA 0.388 NA 33 48 0 0 0.002445 0 0 NEB 4703 broad.mit.edu 37 2 152582033 152582033 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:152582033T>C uc010fnx.2 - 6 527 c.336A>G c.(334-336)CCA>CCG p.P112P NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 112 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) TGCTGGCGTATGGCTGTCCTT 0.393 NA 46 86 0 0 0.00361 0 0 TTN 7273 broad.mit.edu 37 2 179474204 179474204 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:179474204G>T uc010zfg.1 - 222 44353 c.44129C>A c.(44128-44130)ACT>AAT p.T14710N uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T8405N|TTN_uc010zfi.1_Missense_Mutation_p.T8338N|TTN_uc010zfj.1_Missense_Mutation_p.T8213N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 15637 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) CCATGTAATAGTTGGGTAAGG 0.408 NA 27 36 3.01185e-09 4.03101e-09 0.003954 1 0 COL3A1 1281 broad.mit.edu 37 2 189855031 189855031 + Splice_Site SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr2:189855031A>T uc002uqj.1 + 10 862 c.745_splice c.e10-2 p.G249_splice COL3A1_uc010frw.1_5'Flank NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CATTATTTTTAGGGTATCAAA 0.328 NA 4 6 0 0 0.000248 0 0 KIAA1755 85449 broad.mit.edu 37 20 36869386 36869386 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:36869386A>T uc002xhy.1 - 3 1419 c.1147T>A c.(1147-1149)TGT>AGT p.C383S KIAA1755_uc002xhz.1_Missense_Mutation_p.C383S NM_001029864 NP_001025035 Q5JYT7 K1755_HUMAN hypothetical protein LOC85449 383 ovary(4)|pancreas(1) 5 Myeloproliferative disorder(115;0.00874) CCAGAGGCACAGTCCAGTGCG 0.557 NA 82 63 0 0 0.00361 0 0 PIGT 51604 broad.mit.edu 37 20 44050087 44050087 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:44050087G>T uc002xoh.1 + 9 1171 c.1098G>T c.(1096-1098)GGG>GGT p.G366G PIGT_uc010ghd.1_Silent_p.G273G|PIGT_uc010ghc.1_RNA|PIGT_uc010ghe.1_Silent_p.G329G|PIGT_uc010ghf.1_Silent_p.G319G|PIGT_uc002xoj.1_Intron|PIGT_uc002xok.1_Silent_p.G331G|PIGT_uc010zwu.1_Silent_p.G104G|PIGT_uc002xoi.1_RNA|PIGT_uc010zwv.1_Silent_p.G104G|PIGT_uc010zww.1_Silent_p.G310G|PIGT_uc010zwx.1_Silent_p.G201G|PIGT_uc010zwy.1_Silent_p.G264G|PIGT_uc010zwz.1_Silent_p.G104G|PIGT_uc010zxa.1_Silent_p.G204G|PIGT_uc002xol.1_Intron|PIGT_uc010zxb.1_Silent_p.G42G|PIGT_uc002xom.1_5'Flank NM_015937 NP_057021 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, 366 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding pancreas(1) 1 Myeloproliferative disorder(115;0.0122) TGCAGAAGGGGGAGCTGAGCA 0.592 NA 26 35 4.22769e-11 5.89652e-11 0.00632 1 0 TH1L 51497 broad.mit.edu 37 20 57568155 57568155 + Silent SNP G G A rs141996345 byFrequency TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:57568155G>A uc002yag.2 + 11 1386 c.1359G>A c.(1357-1359)GCG>GCA p.A453A TH1L_uc002yaf.1_RNA|TH1L_uc002yah.2_Silent_p.A453A NM_198976 NP_945327 Q8IXH7 NELFD_HUMAN TH1-like protein 453 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_lung(29;0.00711) Colorectal(105;0.109) TCCACCTGGCGTTGCTGGATG 0.502 NA 12 51 0 0 0.001368 0 0 PCNT 5116 broad.mit.edu 37 21 47808656 47808656 + Splice_Site SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr21:47808656G>T uc002zji.3 + 18 3572 c.3465_splice c.e18-1 p.R1155_splice PCNT_uc002zjj.2_Splice_Site_p.R1037_splice NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TCCTGTCTCAGAGGGGCCCTC 0.667 NA 25 39 5.45727e-16 8.21691e-16 0.008361 1 0 SLC5A4 6527 broad.mit.edu 37 22 32650132 32650133 + Missense_Mutation DNP CC CC AA rs148427710 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr22:32650132_32650133CC>AA uc003ami.2 - 2 205_206 c.203_204GG>TT c.(202-204)TGG>TTT p.W68F NM_014227 NP_055042 Q9NY91 SC5A4_HUMAN solute carrier family 5 (low affinity glucose 68 Helical; (Potential). carbohydrate transport|sodium ion transport integral to membrane symporter activity 0 CACTTACCGGCCACCAGGCCAT 0.411 NA 12 46 0 0 0.004672 0 0 GRM7 2917 broad.mit.edu 37 3 7721841 7721841 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:7721841G>C uc003bqm.2 + 9 2831 c.2557G>C c.(2557-2559)GAA>CAA p.E853Q GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Missense_Mutation_p.E853Q|GRM7_uc003bql.2_Missense_Mutation_p.E853Q|GRM7_uc003bqn.1_Missense_Mutation_p.E436Q NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 853 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) TTTCCACCCTGAACTCAATGT 0.502 NA 41 23 0 0 0.002852 0 0 TRANK1 9881 broad.mit.edu 37 3 36897333 36897333 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:36897333C>T uc003cgj.2 - 3 2400 c.2098G>A c.(2098-2100)GAG>AAG p.E700K NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1250 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 ACCTCAGCCTCCTCTTCATCC 0.483 NA 23 82 0 0 0.00278 0 0 SCN10A 6336 broad.mit.edu 37 3 38739794 38739794 + Silent SNP G G A rs142804903 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:38739794G>A uc003ciq.2 - 27 4917 c.4917C>T c.(4915-4917)GAC>GAT p.D1639D NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1639 IV. sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGAACATGTCGTCGATGCCAG 0.547 NA 31 98 0 0 0.003271 0 0 PLXNB1 5364 broad.mit.edu 37 3 48461086 48461086 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:48461086G>A uc003csw.2 - 11 2879 c.2609C>T c.(2608-2610)TCA>TTA p.S870L PLXNB1_uc003csu.2_Intron|PLXNB1_uc003csx.2_Missense_Mutation_p.S870L|PLXNB1_uc010hjx.1_Intron NM_002673 NP_002664 O43157 PLXB1_HUMAN plexin B1 precursor 870 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) TCCATCACCTGAGAGGAGGGT 0.687 NA 10 36 0 0 0.008291 0 0 CELSR3 1951 broad.mit.edu 37 3 48697796 48697796 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:48697796T>C uc003cul.2 - 1 2553 c.2272A>G c.(2272-2274)ATG>GTG p.M758V CELSR3_uc003cuf.1_Missense_Mutation_p.M828V NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 758 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TACTCCTTCATTGTGAACTCA 0.567 NA 19 47 0 0 0.007413 0 0 GTF2E1 2960 broad.mit.edu 37 3 120500000 120500000 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:120500000G>C uc003edz.3 + 5 1117 c.1003G>C c.(1003-1005)GCC>CCC p.A335P NM_005513 NP_005504 P29083 T2EA_HUMAN general transcription factor IIE, polypeptide 1, 335 interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction nucleoplasm protein binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(114;0.159) GACTTCCTCTGCCATGGCTGG 0.557 NA 8 24 0 0 0.00308 0 0 TRPC1 7220 broad.mit.edu 37 3 142467281 142467281 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:142467281A>G uc003evc.2 + 4 747 c.611A>G c.(610-612)AAG>AGG p.K204R TRPC1_uc003evb.2_Missense_Mutation_p.K170R NM_003304 NP_003295 P48995 TRPC1_HUMAN transient receptor potential cation channel, 204 Cytoplasmic (Potential). axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AAAAACAAAAAGGATAGCCTC 0.338 NA 34 40 0 0 0.002836 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907724 164907724 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr3:164907724A>T uc003fej.3 - 2 1339 c.895T>A c.(895-897)TCA>ACA p.S299T SLITRK3_uc003fek.2_Missense_Mutation_p.S299T NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 299 Extracellular (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TTACTTGATGACGAATGTGGA 0.438 NA HNSCC(40;0.11) 20 62 0 0 0.008871 0 0 KIAA1530 57654 broad.mit.edu 37 4 1346874 1346874 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:1346874C>T uc003gde.3 + 5 1054 c.607C>T c.(607-609)CTG>TTG p.L203L NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 203 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CTTTAGGCTGCTGGTGCCTTT 0.567 NA 20 35 0 0 0.007413 0 0 AFAP1 60312 broad.mit.edu 37 4 7802188 7802188 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:7802188T>A uc003gkg.1 - 10 1520 c.1247A>T c.(1246-1248)CAG>CTG p.Q416L AFAP1_uc011bwk.1_Missense_Mutation_p.Q416L NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 416 PH 2. actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 TGCAACCTCCTGGCCGTTGCG 0.547 NA 4 17 0 0 0.000602 0 0 GABRG1 2565 broad.mit.edu 37 4 46043081 46043081 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:46043081G>C uc003gxb.2 - 9 1474 c.1322C>G c.(1321-1323)TCT>TGT p.S441C NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 441 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCTAGAATAAGAGTCAATTTT 0.393 NA 54 27 0 0 0.00361 0 0 NHEDC1 150159 broad.mit.edu 37 4 103822321 103822321 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:103822321C>G uc003hww.2 - 12 1623 c.1501G>C c.(1501-1503)GAT>CAT p.D501H NHEDC1_uc003hwu.2_Intron|NHEDC1_uc010ilm.2_Intron|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Missense_Mutation_p.D274H NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 501 integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) TTGCTTGGATCATAATGGCGT 0.378 NA 4 169 0 0 0.001984 0 0 KIAA1109 84162 broad.mit.edu 37 4 123264593 123264593 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:123264593C>T uc003ieh.2 + 71 12426 c.12381C>T c.(12379-12381)GGC>GGT p.G4127G KIAA1109_uc003iem.2_Silent_p.G483G|KIAA1109_uc003ien.2_Silent_p.G61G NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4127 Ser-rich. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GCCCTCTTGGCCGAAGTCGAC 0.433 NA 10 28 0 0 0.001855 0 0 CLCN3 1182 broad.mit.edu 37 4 170628234 170628234 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr4:170628234G>T uc003isi.2 + 11 2475 c.1966G>T c.(1966-1968)GAC>TAC p.D656Y CLCN3_uc003ish.2_Missense_Mutation_p.D656Y|CLCN3_uc011cjz.1_Missense_Mutation_p.D639Y|CLCN3_uc011cka.1_Missense_Mutation_p.D629Y|CLCN3_uc003isj.1_Missense_Mutation_p.D629Y NM_001829 NP_001820 P51790 CLCN3_HUMAN chloride channel 3 isoform b 656 Cytoplasmic (By similarity). endosomal lumen acidification cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity breast(2)|ovary(1) 3 Prostate(90;0.00601)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131) CCTGGCTGCTGACGTTATGAG 0.433 NA 20 50 9.95505e-16 1.49045e-15 0.002299 1 0 SLC6A18 348932 broad.mit.edu 37 5 1232907 1232907 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:1232907T>C uc003jby.1 + 3 466 c.343T>C c.(343-345)TAC>CAC p.Y115H NM_182632 NP_872438 Q96N87 S6A18_HUMAN solute carrier family 6, member 18 115 Extracellular (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(1) 1 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CAGCCTGTACTACAACACCAT 0.637 NA 23 43 0 0 0.001882 0 0 AMACR 23600 broad.mit.edu 37 5 34004754 34004754 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:34004754C>A uc003jig.2 - 3 559 c.477G>T c.(475-477)ATG>ATT p.M159I AMACR_uc003jih.2_Intron|AMACR_uc003jii.2_Missense_Mutation_p.M159I|AMACR_uc003jij.2_Missense_Mutation_p.M159I|AMACR_uc003jil.1_Missense_Mutation_p.M159I|AMACR_uc003jik.1_Intron NM_014324 NP_055139 Q9UHK6 AMACR_HUMAN alpha-methylacyl-CoA racemase isoform 1 159 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase mitochondrion|peroxisomal matrix alpha-methylacyl-CoA racemase activity 0 CCAGTGCACACATAAGGCCAC 0.463 NA 18 42 5.01169e-05 5.90266e-05 0.00499 1 0 PELO 53918 broad.mit.edu 37 5 52096562 52096562 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:52096562C>G uc003jos.2 + 2 1319 c.334C>G c.(334-336)CTG>GTG p.L112V ITGA1_uc003jov.2_Intron|ITGA1_uc003jou.2_Intron|PELO_uc003jot.1_Intron NM_015946 NP_057030 Q9BRX2 PELO_HUMAN pelota homolog 112 cell cycle|cell division|translation cytoplasm|nucleus endonuclease activity|metal ion binding|protein binding 0 Lung NSC(810;4.94e-05)|Breast(144;0.0848) CCAGTTCACCCTGGCCAAGAA 0.597 NA 8 27 0 0 0.00308 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64625273 64625273 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:64625273C>G uc003jtp.2 - 9 1969 c.1155G>C c.(1153-1155)AGG>AGC p.R385S ADAMTS6_uc003jto.2_RNA|ADAMTS6_uc003jtq.2_RNA|ADAMTS6_uc003jtr.1_Missense_Mutation_p.R6S NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN ADAM metallopeptidase with thrombospondin type 1 385 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) TGCTGCAGCTCCTTTCAGGCT 0.413 NA 25 9 0 0 0.008361 0 0 MRPS27 23107 broad.mit.edu 37 5 71616013 71616013 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:71616013C>A uc003kbz.3 - 1 72 c.36G>T c.(34-36)CTG>CTT p.L12L MRPS27_uc003kca.3_5'UTR|MRPS27_uc011cse.1_Silent_p.L12L|MRPS27_uc010iza.2_5'UTR|PTCD2_uc011csf.1_5'Flank|PTCD2_uc003kcb.2_5'Flank|PTCD2_uc003kcc.2_5'Flank|PTCD2_uc011csg.1_5'Flank|PTCD2_uc011csh.1_5'Flank|PTCD2_uc003kcd.2_5'Flank NM_015084 NP_055899 Q92552 RT27_HUMAN mitochondrial ribosomal protein S27 12 mitochondrion|ribosome 0 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.46e-53) CTTGCCGCGCCAGGAGCATCC 0.592 NA 22 8 4.26978e-12 5.98672e-12 0.00333 1 0 RAD50 10111 broad.mit.edu 37 5 131895051 131895051 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:131895051G>T uc003kxi.2 + 2 592 c.205G>T c.(205-207)GAT>TAT p.D69Y RAD50_uc003kxg.1_5'UTR|RAD50_uc003kxh.2_5'UTR NM_005732 NP_005723 Q92878 RAD50_HUMAN RAD50 homolog isoform 1 69 DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding lung(2)|ovary(1)|skin(1) 4 all_cancers(142;0.0368)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATTTGTACACGATCCCAAGGT 0.214 NA Homologous_recombination 21 8 3.7963e-18 5.78173e-18 0.00333 1 0 PCDHGA1 56114 broad.mit.edu 37 5 140711076 140711076 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:140711076G>T uc003lji.1 + 1 825 c.825G>T c.(823-825)GGG>GGT p.G275G PCDHGA1_uc011dan.1_Silent_p.G275G NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 275 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) GAGCCAATGGGGAAGTAACGT 0.438 NA 23 36 3.5997e-14 5.21268e-14 0.002299 1 0 PCDHGA2 56113 broad.mit.edu 37 5 140719315 140719315 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:140719315C>A uc003ljk.1 + 1 962 c.777C>A c.(775-777)ACC>ACA p.T259T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Silent_p.T259T NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 259 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGGGCACCCGGATACTCA 0.537 NA 57 93 3.07002e-29 5.08471e-29 0.00361 1 0 PCDHGA11 56105 broad.mit.edu 37 5 140802988 140802988 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:140802988G>T uc003lkq.1 + 1 2452 c.2194G>T c.(2194-2196)GGG>TGG p.G732W PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lko.1_Missense_Mutation_p.G732W|PCDHGA11_uc003lkp.1_Intron|PCDHGB8P_uc011daz.1_5'Flank NM_018914 NP_061737 Q9Y5H2 PCDGB_HUMAN protocadherin gamma subfamily A, 11 isoform 1 732 Cytoplasmic (Potential). 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) TTCTGAAGGCGGGTTGGCAGG 0.587 NA 38 82 3.76114e-14 5.41685e-14 0.004289 1 0 ARHGAP26 23092 broad.mit.edu 37 5 142500655 142500655 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:142500655C>T uc011dbj.1 + 18 1676 c.1641C>T c.(1639-1641)ATC>ATT p.I547I ARHGAP26_uc003lmt.2_Silent_p.I547I|ARHGAP26_uc003lmw.2_Silent_p.I547I NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 547 Rho-GAP. actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAGCAGCCATCATGGACATCA 0.433 NA 41 85 0 0 0.006999 0 0 PDE6A 5145 broad.mit.edu 37 5 149247676 149247676 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:149247676G>T uc003lrg.3 - 18 2301 c.2181C>A c.(2179-2181)CCC>CCA p.P727P NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 727 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) GCACCTCCCAGGGTTTGGTGA 0.567 NA 54 49 3.28156e-27 5.30251e-27 0.00361 1 0 ADAM19 8728 broad.mit.edu 37 5 156997967 156997967 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr5:156997967G>T uc003lwz.2 - 2 180 c.116C>A c.(115-117)CCC>CAC p.P39H ADAM19_uc003lww.1_5'UTR|ADAM19_uc011ddr.1_5'UTR NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 39 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGCAGCTTGGGGCTGCCTTC 0.488 NA 45 41 2.51966e-14 3.66874e-14 0.00361 1 0 BCKDHB 594 broad.mit.edu 37 6 80878701 80878701 + Missense_Mutation SNP A A C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:80878701A>C uc003pjd.2 + 5 654 c.587A>C c.(586-588)CAT>CCT p.H196P BCKDHB_uc003pje.2_Missense_Mutation_p.H196P NM_000056 NP_000047 P21953 ODBB_HUMAN branched chain keto acid dehydrogenase E1 beta 196 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding 0 all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149) BRCA - Breast invasive adenocarcinoma(397;0.0291) GCTCTCTATCATTCTCAGAGT 0.433 NA 19 54 0 0 0.007413 0 0 LAMA4 3910 broad.mit.edu 37 6 112469529 112469529 + Missense_Mutation SNP T T G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:112469529T>G uc003pvu.2 - 18 2492 c.2183A>C c.(2182-2184)CAG>CCG p.Q728P LAMA4_uc003pvv.2_Missense_Mutation_p.Q721P|LAMA4_uc003pvt.2_Missense_Mutation_p.Q721P NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 728 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CAGGCGCTGCTGGGCATCCCC 0.537 NA 6 18 0 0 0.001984 0 0 NT5DC1 221294 broad.mit.edu 37 6 116429571 116429571 + Missense_Mutation SNP A A C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:116429571A>C uc003pwj.2 + 3 325 c.230A>C c.(229-231)AAA>ACA p.K77T NT5DC1_uc003pwk.2_Missense_Mutation_p.K77T|NT5DC1_uc003pwl.2_5'Flank NM_152729 NP_689942 Q5TFE4 NT5D1_HUMAN 5'-nucleotidase, cytosolic II-like 1 protein 77 hydrolase activity|metal ion binding 0 all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469) all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112) AACTTCCTTAAACTTGCAAAT 0.343 Colon(128;1440 1664 38087 41475 42869) NA 26 6 0 0 0.008361 0 0 COL10A1 1300 broad.mit.edu 37 6 116442887 116442887 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:116442887G>T uc003pwm.2 - 3 488 c.392C>A c.(391-393)CCA>CAA p.P131Q NT5DC1_uc003pwj.2_Intron|NT5DC1_uc003pwk.2_Intron|NT5DC1_uc003pwl.2_Intron NM_000493 NP_000484 Q03692 COAA1_HUMAN type X collagen alpha 1 precursor 131 Triple-helical region. skeletal system development collagen metal ion binding central_nervous_system(1) 1 all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234) all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711) TAGGCCAGCTGGTCCAACATC 0.597 NA 20 5 0.000175454 0.000201279 0.001523 1 0 VGLL2 245806 broad.mit.edu 37 6 117586942 117586942 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:117586942G>A uc003pxn.2 + 1 206 c.16G>A c.(16-18)GTT>ATT p.V6I VGLL2_uc003pxo.2_Missense_Mutation_p.V6I NM_182645 NP_872586 Q8N8G2 VGLL2_HUMAN vestigial-like 2 isoform 1 6 transcription, DNA-dependent nucleus central_nervous_system(1) 1 GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757) CTGTCTGGATGTTATGTACCA 0.577 NA 25 8 0 0 0.004656 0 0 TAAR6 319100 broad.mit.edu 37 6 132892340 132892340 + Nonsense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:132892340G>T uc011eck.1 + 1 880 c.880G>T c.(880-882)GAG>TAG p.E294* NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 294 Helical; Name=7; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) CTGTATTTATGAGATTTGCTG 0.353 NA 63 19 3.41413e-29 5.61953e-29 0.00361 1 0 TCP10 6953 broad.mit.edu 37 6 167789539 167789539 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr6:167789539C>A uc003qvv.1 - 6 815 c.603G>T c.(601-603)CCG>CCT p.P201P TCP10_uc003qvu.2_Silent_p.P201P|TCP10_uc003qvw.2_3'UTR NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 228 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGGAGTTTTGCGGACTTCGGG 0.612 NA 8 11 3.09899e-07 3.9673e-07 0.004482 1 0 ANKMY2 57037 broad.mit.edu 37 7 16666726 16666726 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:16666726G>A uc003sti.2 - 3 410 c.210C>T c.(208-210)GCC>GCT p.A70A ANKMY2_uc010ktz.2_RNA NM_020319 NP_064715 Q8IV38 ANKY2_HUMAN ankyrin repeat and MYND domain containing 2 70 ANK 1. cilium zinc ion binding central_nervous_system(1) 1 Lung NSC(10;0.103)|all_lung(11;0.204) UCEC - Uterine corpus endometrioid carcinoma (126;0.195) AATTTACATCGGCTCCATGTC 0.358 NA 5 20 0 0 0.008291 0 0 NPC1L1 29881 broad.mit.edu 37 7 44573443 44573443 + Missense_Mutation SNP G G A rs149392392 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:44573443G>A uc003tlb.2 - 7 2232 c.2176C>T c.(2176-2178)CGG>TGG p.R726W NPC1L1_uc003tlc.2_Missense_Mutation_p.R726W|NPC1L1_uc011kbw.1_Missense_Mutation_p.R726W|NPC1L1_uc003tld.2_Intron NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 726 SSD.|Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) CCAGGCCTCCGGGGCAGCCTC 0.652 NA 9 24 0 0 0.004482 0 0 C7orf64 84060 broad.mit.edu 37 7 92158138 92158138 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:92158138G>T uc003ulz.2 + 1 52 c.11G>T c.(10-12)AGC>ATC p.S4I PEX1_uc003uly.2_5'Flank|PEX1_uc011khr.1_5'Flank|PEX1_uc010ley.2_5'Flank|PEX1_uc011khs.1_5'Flank|C7orf64_uc011khu.1_Missense_Mutation_p.S4I|C7orf64_uc003uma.2_Missense_Mutation_p.S4I NM_032120 NP_115496 Q5RL73 CG064_HUMAN hypothetical protein LOC84060 4 nucleotide binding ovary(2) 2 ATGGCGTCGAGCGGCGGGGAG 0.562 NA 8 20 5.18039e-06 6.53716e-06 0.00308 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95726812 95726812 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:95726812T>C uc003uoc.3 + 17 2122 c.1845T>C c.(1843-1845)AAT>AAC p.N615N DYNC1I1_uc003uod.3_Silent_p.N598N|DYNC1I1_uc003uob.2_Silent_p.N578N|DYNC1I1_uc003uoe.3_Silent_p.N595N|DYNC1I1_uc010lfl.2_Silent_p.N604N NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 615 WD 7. vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TTCCCCACAATGATGAATGGA 0.453 NA 36 33 0 0 0.00874 0 0 CDHR3 222256 broad.mit.edu 37 7 105653351 105653351 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:105653351C>T uc003vdl.3 + 9 1206 c.1098C>T c.(1096-1098)GAC>GAT p.D366D CDHR3_uc003vdk.2_Silent_p.D14D|CDHR3_uc011kls.1_RNA|CDHR3_uc003vdm.3_Silent_p.D353D|CDHR3_uc011klt.1_Silent_p.D278D|CDHR3_uc003vdn.2_Silent_p.D83D NM_152750 NP_689963 Q6ZTQ4 CDHR3_HUMAN hypothetical protein LOC222256 precursor 366 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TGCTTCTTGACCTAAACAAGT 0.468 NA 6 192 0 0 0.001168 0 0 PNPLA8 50640 broad.mit.edu 37 7 108155242 108155242 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:108155242C>A uc003vff.1 - 4 1101 c.694G>T c.(694-696)GAC>TAC p.D232Y PNPLA8_uc003vfg.1_RNA|PNPLA8_uc003vfh.1_Missense_Mutation_p.D232Y|PNPLA8_uc003vfi.1_Missense_Mutation_p.D132Y|PNPLA8_uc003vfj.1_Missense_Mutation_p.D232Y|PNPLA8_uc003vfk.1_Missense_Mutation_p.D132Y NM_015723 NP_056538 Q9NP80 PLPL8_HUMAN patatin-like phospholipase domain containing 8 232 fatty acid metabolic process|lipid catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity breast(2) 2 TCTGATTTGTCCCGGAAATGT 0.343 NA 22 19 1.64113e-05 1.98585e-05 0.001523 1 0 Unknown 0 broad.mit.edu 37 7 124116822 124116822 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:124116822C>A uc011kod.1 + 1 398 c.398C>A c.(397-399)CCT>CAT p.P133H NM_001085395 NP_001078864 RecName: Full=Putative RNA polymerase II subunit A C-terminal domain phosphatase SSU72-like protein 2; Short=CTD phosphatase SSU72-like protein 2; EC=3.1.3.16; NA ACCTTTCAGCCTGTGCACGTG 0.498 NA 7 42 0.00198382 0.00222759 0.001984 1 0 ZNF800 168850 broad.mit.edu 37 7 127013707 127013707 + Silent SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:127013707T>A uc003vlx.1 - 5 1946 c.1683A>T c.(1681-1683)ATA>ATT p.I561I ZNF800_uc003vlw.1_Silent_p.I464I|ZNF800_uc003vly.1_Silent_p.I561I|ZNF800_uc010lla.2_Silent_p.I561I NM_176814 NP_789784 Q2TB10 ZN800_HUMAN zinc finger protein 800 561 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TAGGCTTTTTTATAGCTCTGA 0.373 NA 30 33 0 0 0.00632 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146997361 146997361 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:146997361G>T uc003weu.1 + 9 1993 c.1477G>T c.(1477-1479)GGC>TGC p.G493C NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 493 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) AGTTAAAACTGGCGAGAAGTA 0.378 NA HNSCC(39;0.1) 20 34 2.4624e-09 3.31236e-09 0.008871 1 0 SSPO 23145 broad.mit.edu 37 7 149512270 149512270 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:149512270G>T uc010lpk.2 + 76 10590 c.10590G>T c.(10588-10590)GGG>GGT p.G3530G NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 3530 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) TAGACTGCGGGGGTGGCCAGA 0.667 NA 20 28 1.85244e-09 2.50458e-09 0.00333 1 0 CSMD1 64478 broad.mit.edu 37 8 2796146 2796146 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:2796146C>A uc011kwk.1 - 70 11049 c.10659G>T c.(10657-10659)AGG>AGT p.R3553S CSMD1_uc011kwj.1_Missense_Mutation_p.R2867S|CSMD1_uc010lrg.2_Missense_Mutation_p.R1444S NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 3553 Cytoplasmic (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTGTGTCAAACCTCACAGCCT 0.463 NA 9 5 5.68852e-11 7.85135e-11 0.004482 1 0 DEFA5 1670 broad.mit.edu 37 8 6914118 6914118 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:6914118C>A uc003wra.1 - 1 142 c.102G>T c.(100-102)CAG>CAT p.Q34H NM_021010 NP_066290 Q01523 DEF5_HUMAN defensin, alpha 5 preproprotein 34 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space 0 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) CTTCCCCAGACTGCTTCTGGG 0.537 NA 63 11 3.10202e-16 4.69734e-16 0.00361 1 0 ASH2L 9070 broad.mit.edu 37 8 37978623 37978623 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:37978623G>T uc003xkt.3 + 10 1179 c.1121G>T c.(1120-1122)AGA>ATA p.R374I ASH2L_uc011lbk.1_Missense_Mutation_p.R235I|ASH2L_uc003xku.3_Missense_Mutation_p.R280I|ASH2L_uc010lwa.2_Missense_Mutation_p.R280I NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 374 B30.2/SPRY. hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) GACCTCTACAGAGCCTGCTTG 0.483 NA OREG0018719 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 40 1.47244e-24 2.35059e-24 0.00623 1 0 SLC10A5 347051 broad.mit.edu 37 8 82607198 82607198 + Missense_Mutation SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:82607198T>C uc011lfs.1 - 1 10 c.10A>G c.(10-12)AAA>GAA p.K4E NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 4 integral to membrane bile acid:sodium symporter activity 0 ATAAAAAGTTTTCTAATCATT 0.313 NA 9 35 0 0 0.006214 0 0 WWP1 11059 broad.mit.edu 37 8 87386340 87386340 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:87386340C>G uc003ydt.2 + 3 341 c.61C>G c.(61-63)CAG>GAG p.Q21E NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 21 C2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 GTTGCAGTTACAGGTAACTGG 0.343 NA 28 97 0 0 0.001786 0 0 WWP1 11059 broad.mit.edu 37 8 87393038 87393038 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:87393038A>G uc003ydt.2 + 4 434 c.154A>G c.(154-156)AAA>GAA p.K52E WWP1_uc010mai.2_5'UTR NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 52 C2. central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 AGAAATTACGAAAACAGCAAA 0.343 NA 5 30 0 0 0.001168 0 0 CNBD1 168975 broad.mit.edu 37 8 87878811 87878811 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:87878811A>T uc003ydy.2 + 1 136 c.88A>T c.(88-90)AAC>TAC p.N30Y NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 30 ovary(3) 3 CAGTATACCAAGTGAGTGGGA 0.438 NA 8 18 0 0 0.006214 0 0 SLC25A32 81034 broad.mit.edu 37 8 104420013 104420013 + Splice_Site SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:104420013C>A uc003yll.2 - 2 458 c.155_splice c.e2-1 p.V52_splice SLC25A32_uc011lhr.1_Splice_Site NM_030780 NP_110407 Q9H2D1 MFTC_HUMAN solute carrier family 25, member 32 folic acid metabolic process|mitochondrial transport integral to membrane|mitochondrial inner membrane binding|folic acid transporter activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197) Folic Acid(DB00158) CCATCACTCACTGCATCAAGG 0.373 NA 50 39 7.05377e-20 1.09956e-19 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 114326875 114326875 + Nonsense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:114326875G>T uc003ynu.2 - 2 485 c.326C>A c.(325-327)TCA>TAA p.S109* CSMD3_uc003ynt.2_Nonsense_Mutation_p.S69*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.S109*|CSMD3_uc010mcx.1_Nonsense_Mutation_p.S109*|CSMD3_uc003ynx.3_Nonsense_Mutation_p.S109* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 109 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TAGAGCAAATGACTGAAAAAC 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 65 2.44723e-14 3.58296e-14 0.004656 1 0 TRPS1 7227 broad.mit.edu 37 8 116631998 116631998 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:116631998G>T uc003ynz.2 - 2 747 c.288C>A c.(286-288)AAC>AAA p.N96K TRPS1_uc011lhy.1_Missense_Mutation_p.N100K|TRPS1_uc003yny.2_Missense_Mutation_p.N109K|TRPS1_uc010mcy.2_Missense_Mutation_p.N96K NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 96 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) AGGAGGGAAAGTTTCCTCCCT 0.478 NA Langer-Giedion_syndrome 17 122 5.3912e-06 6.77094e-06 0.006122 1 0 FAM83A 84985 broad.mit.edu 37 8 124195334 124195334 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:124195334T>A uc003ypv.2 + 2 2252 c.238T>A c.(238-240)TGT>AGT p.C80S FAM83A_uc003ypw.2_Missense_Mutation_p.C80S|FAM83A_uc003ypy.2_Missense_Mutation_p.C80S|FAM83A_uc003ypx.2_Missense_Mutation_p.C80S|FAM83A_uc003ypz.2_Missense_Mutation_p.C80S NM_032899 NP_116288 Q86UY5 FA83A_HUMAN hypothetical protein LOC84985 isoform a 80 ovary(3)|skin(1) 4 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GGAGCCCCCGTGTCCCCCAGA 0.662 NA 41 40 0 0 0.00874 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557696 144557696 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:144557696C>T uc003yyd.2 - 5 1804 c.1775G>A c.(1774-1776)GGC>GAC p.G592D NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 592 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) CCAAGGGGAGCCCGGTTGGGC 0.632 NA 7 43 0 0 0.00308 0 0 DOCK8 81704 broad.mit.edu 37 9 328110 328110 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:328110A>G uc003zgf.2 + 9 1095 c.983A>G c.(982-984)CAG>CGG p.Q328R DOCK8_uc011lls.1_Missense_Mutation_p.Q328R|DOCK8_uc010mgu.2_5'UTR|DOCK8_uc010mgv.2_Missense_Mutation_p.Q260R|DOCK8_uc003zgg.2_Missense_Mutation_p.Q260R|DOCK8_uc003zgh.2_RNA NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 328 DHR-1. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GCATCAAGTCAGGCGAGATCT 0.468 NA 9 18 0 0 0.004482 0 0 BNC2 54796 broad.mit.edu 37 9 16419339 16419339 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:16419339C>A uc003zml.2 - 7 3088 c.2948G>T c.(2947-2949)GGC>GTC p.G983V BNC2_uc011lmw.1_Missense_Mutation_p.G888V|BNC2_uc003zmm.2_3'UTR|BNC2_uc011lmv.1_3'UTR|BNC2_uc003zmj.2_3'UTR|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.G770V NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 983 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) CTCATCGCTGCCTGCGTCGGA 0.617 NA 15 22 1.49906e-05 1.82225e-05 0.00245 1 0 IFNE 338376 broad.mit.edu 37 9 21481120 21481120 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:21481120G>A uc003zpg.2 - 1 1193 c.574C>T c.(574-576)CCC>TCC p.P192S LOC554202_uc003zpe.2_Intron|LOC554202_uc003zpf.2_Intron NM_176891 NP_795372 Q86WN2 IFNE_HUMAN interferon, epsilon precursor 192 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding 0 TCGTTCAAGGGTCTTCCTTGT 0.478 NA 34 48 0 0 0.003755 0 0 TAF1L 138474 broad.mit.edu 37 9 32635389 32635389 + Silent SNP C C T rs55895024 byFrequency TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:32635389C>T uc003zrg.1 - 1 279 c.189G>A c.(187-189)AAG>AAA p.K63K uc003zrh.1_Intron NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 63 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTGCCAAGTGCTTCTTACACT 0.547 NA 4 93 0 0 0.000248 0 0 TRPM6 140803 broad.mit.edu 37 9 77411743 77411743 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:77411743A>G uc004ajl.1 - 18 2543 c.2305T>C c.(2305-2307)TCA>CCA p.S769P TRPM6_uc004ajk.1_Missense_Mutation_p.S764P|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.S147P NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 769 Extracellular (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 GGAACATGTGACATCTCAGCT 0.378 NA 14 51 0 0 0.001855 0 0 PRUNE2 158471 broad.mit.edu 37 9 79323992 79323992 + Silent SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:79323992G>A uc010mpk.2 - 8 3322 c.3198C>T c.(3196-3198)TCC>TCT p.S1066S NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 1066 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 CATCCTCCATGGAGATATTCT 0.453 NA 18 34 0 0 0.00499 0 0 KIAA0368 23392 broad.mit.edu 37 9 114246668 114246668 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:114246668A>G uc004bfe.1 - 2 245 c.245T>C c.(244-246)TTT>TCT p.F82S KIAA0368_uc010muc.1_5'Flank NM_001080398 NP_001073867 KIAA0368 protein 0 GGACTCAGAAAAGTAGAGCCG 0.697 NA 6 13 0 0 0.004482 0 0 PAPPA 5069 broad.mit.edu 37 9 119065114 119065114 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:119065114G>A uc004bjn.2 + 10 3413 c.3032G>A c.(3031-3033)TGT>TAT p.C1011Y PAPPA_uc011lxp.1_Missense_Mutation_p.C706Y|PAPPA_uc011lxq.1_Missense_Mutation_p.C386Y NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1011 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ATTAAGGACTGTGGTGTCTAC 0.488 NA 4 24 0 0 0.000248 0 0 CERCAM 51148 broad.mit.edu 37 9 131193497 131193497 + Missense_Mutation SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:131193497C>T uc004buz.3 + 9 1516 c.1118C>T c.(1117-1119)CCG>CTG p.P373L CERCAM_uc004buy.1_Missense_Mutation_p.P295L|CERCAM_uc010mxz.2_Missense_Mutation_p.P295L|CERCAM_uc010mya.1_Missense_Mutation_p.P214L NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 373 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 GACCTGCTCCCGGGCTACCAG 0.642 NA 28 116 0 0 0.007291 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136307772 136307772 + Silent SNP C C T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr9:136307772C>T uc004cdv.3 + 18 2586 c.2142C>T c.(2140-2142)GCC>GCT p.A714A ADAMTS13_uc004cdp.3_Intron|ADAMTS13_uc004cdt.1_Silent_p.A714A|ADAMTS13_uc004cdu.1_Silent_p.A683A|ADAMTS13_uc004cdw.3_Silent_p.A714A|ADAMTS13_uc004cdx.3_Silent_p.A683A|ADAMTS13_uc004cdy.1_Intron|ADAMTS13_uc004cdz.3_Silent_p.A384A|ADAMTS13_uc004cds.1_Silent_p.A239A|ADAMTS13_uc004cdr.1_Intron NM_139025 NP_620594 Q76LX8 ATS13_HUMAN ADAM metallopeptidase with thrombospondin type 1 714 TSP type-1 2. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|skin(2)|ovary(1)|kidney(1) 6 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) TGGACCAGGCCAGGAAGGAGT 0.662 NA 12 69 0 0 0.001368 0 0 SFRS17A 8227 broad.mit.edu 37 X 1712374 1712374 + Missense_Mutation SNP G G C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:1712374G>C uc004cqa.2 + 2 215 c.19G>C c.(19-21)GTG>CTG p.V7L SFRS17A_uc010ncx.1_Missense_Mutation_p.V7L|SFRS17A_uc004cqb.2_RNA|ASMT_uc004cqd.2_5'Flank NM_005088 NP_005079 Q02040 AK17A_HUMAN DNA segment on chromosome X and Y (unique) 155 7 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GGCTACCATCGTGCACGACAC 0.622 NA 60 131 0 0 0.00361 0 0 TBL1X 6907 broad.mit.edu 37 X 9683028 9683028 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:9683028C>A uc010ndq.2 + 17 2060 c.1692C>A c.(1690-1692)AGC>AGA p.S564R TBL1X_uc004csq.3_Missense_Mutation_p.S513R|TBL1X_uc010ndr.2_Missense_Mutation_p.S513R|TBL1X_uc004csr.2_Missense_Mutation_p.S564R|TBL1X_uc004css.2_Missense_Mutation_p.S515R NM_001139466 NP_001132938 O60907 TBL1X_HUMAN transducin beta-like 1X isoform a 564 WD 8. canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(1) 1 Hepatocellular(5;0.000888) TGGGTGCCAGCGCGTCCGACG 0.597 NA 6 19 8.12818e-05 9.44723e-05 0.001984 1 0 RAI2 10742 broad.mit.edu 37 X 17819428 17819428 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:17819428G>T uc004cyf.2 - 3 1273 c.703C>A c.(703-705)CCT>ACT p.P235T RAI2_uc004cyg.2_Missense_Mutation_p.P235T|RAI2_uc010nfa.2_Missense_Mutation_p.P235T|RAI2_uc004cyh.3_Missense_Mutation_p.P235T|RAI2_uc011miy.1_Missense_Mutation_p.P185T NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 235 Pro-rich. embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) ACGATTACAGGATACGGCACC 0.607 NA 15 51 1.49906e-05 1.82225e-05 0.00245 1 0 FAM48B2 170067 broad.mit.edu 37 X 24330328 24330328 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:24330328G>T uc011mjw.1 - 1 1105 c.1105C>A c.(1105-1107)CCA>ACA p.P369T NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 369 0 TTTTTACGTGGCCGTATTTTA 0.537 NA 12 44 7.93312e-07 1.01071e-06 0.00245 1 0 DMD 1756 broad.mit.edu 37 X 32380967 32380967 + Missense_Mutation SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:32380967G>T uc004dda.1 - 37 5507 c.5263C>A c.(5263-5265)CCC>ACC p.P1755T DMD_uc004dcw.2_Missense_Mutation_p.P411T|DMD_uc004dcx.2_Missense_Mutation_p.P414T|DMD_uc004dcz.2_Missense_Mutation_p.P1632T|DMD_uc004dcy.1_Missense_Mutation_p.P1751T|DMD_uc004ddb.1_Missense_Mutation_p.P1747T|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1755 Spectrin 12.|Interaction with SYNM (By similarity). 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) GAGATTTGGGGCTCTACTAAT 0.473 NA 46 40 2.81731e-22 4.41767e-22 0.00361 1 0 FAM47B 170062 broad.mit.edu 37 X 34961678 34961679 + Nonsense_Mutation DNP GC GC TA TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 GC GC - - GC GC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:34961678_34961679GC>TA uc004ddi.1 + 1 748_749 c.730_731GC>TA c.(730-732)GCA>TAA p.A244* NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 244 Pro-rich. ovary(3)|breast(1) 4 AGAGACTCGCGCATCTCATCTC 0.639 NA 22 79 0 0 0.004672 0 0 FAM47B 170062 broad.mit.edu 37 X 34961693 34961693 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:34961693G>A uc004ddi.1 + 1 763 c.745G>A c.(745-747)GTG>ATG p.V249M NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 249 Pro-rich. ovary(3)|breast(1) 4 TCATCTCCGCGTGGATCCTCC 0.627 NA 19 80 0 0 0.001882 0 0 CFP 5199 broad.mit.edu 37 X 47487635 47487635 + Missense_Mutation SNP G G A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:47487635G>A uc004dig.3 - 3 395 c.269C>T c.(268-270)TCG>TTG p.S90L CFP_uc004dih.2_Missense_Mutation_p.S90L|CFP_uc004dii.1_Missense_Mutation_p.S26L|CFP_uc010nhu.2_Missense_Mutation_p.S90L NM_001145252 NP_001138724 P27918 PROP_HUMAN complement factor properdin precursor 90 TSP type-1 1. complement activation, alternative pathway|defense response to bacterium extracellular space breast(2)|lung(1) 3 GCACGTCACCGAACAGGGGGC 0.627 NA 4 22 0 0 0.000248 0 0 TRO 7216 broad.mit.edu 37 X 54956321 54956321 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:54956321C>A uc004dtq.2 + 12 3271 c.3164C>A c.(3163-3165)ACC>AAC p.T1055N TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.T586N|TRO_uc004dtw.2_Missense_Mutation_p.T658N|TRO_uc004dtx.2_Missense_Mutation_p.T438N NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1055 62 X 10 AA approximate tandem repeats.|25. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 TCTCCCAGCACCAGTGCTGGC 0.562 NA 18 45 5.03518e-11 6.98599e-11 0.007413 1 0 MAGEH1 28986 broad.mit.edu 37 X 55478884 55478884 + Missense_Mutation SNP A A G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:55478884A>G uc004dum.2 + 1 347 c.77A>G c.(76-78)CAG>CGG p.Q26R NM_014061 NP_054780 Q9H213 MAGH1_HUMAN melanoma antigen, family H, 1 protein 26 MAGE. apoptosis ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CGCAAAATCCAGGCCTCAGAG 0.632 NA 7 13 0 0 0.00308 0 0 NLGN3 54413 broad.mit.edu 37 X 70373331 70373331 + Silent SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:70373331C>A uc004dzd.1 + 3 722 c.522C>A c.(520-522)TCC>TCA p.S174S NLGN3_uc010nlb.1_Intron|NLGN3_uc004dzb.2_Silent_p.S154S|NLGN3_uc004dzc.2_Silent_p.S37S|NLGN3_uc011mps.1_Intron|NLGN3_uc004dze.2_5'UTR|NLGN3_uc011mpr.1_Intron NM_018977 NP_061850 Q9NZ94 NLGN3_HUMAN neuroligin 3 174 Extracellular (Potential). neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity ovary(1) 1 Renal(35;0.156) CCCCAGGATCCGGCGCTAAGA 0.557 Esophageal Squamous(103;760 1488 16849 22250 40351) NA 6 16 1.06961e-07 1.38267e-07 0.00308 1 0 PHKA1 5255 broad.mit.edu 37 X 71840619 71840619 + Missense_Mutation SNP T T A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:71840619T>A uc004eax.3 - 19 2394 c.2093A>T c.(2092-2094)GAC>GTC p.D698V PHKA1_uc004eay.3_Missense_Mutation_p.D698V|PHKA1_uc011mqi.1_Intron NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 698 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) GGACATTAAGTCGCAGGTTGT 0.537 NA 11 43 0 0 0.008291 0 0 BRWD3 254065 broad.mit.edu 37 X 79947425 79947425 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:79947425C>A uc004edt.2 - 30 3641 c.3378G>T c.(3376-3378)TTG>TTT p.L1126F BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Missense_Mutation_p.L722F|BRWD3_uc004edp.2_Missense_Mutation_p.L955F|BRWD3_uc004edq.2_Missense_Mutation_p.L722F|BRWD3_uc010nmj.1_Missense_Mutation_p.L722F|BRWD3_uc004edr.2_Missense_Mutation_p.L796F|BRWD3_uc004eds.2_Missense_Mutation_p.L722F|BRWD3_uc004edu.2_Missense_Mutation_p.L796F|BRWD3_uc004edv.2_Missense_Mutation_p.L722F|BRWD3_uc004edw.2_Missense_Mutation_p.L722F|BRWD3_uc004edx.2_Missense_Mutation_p.L722F|BRWD3_uc004edy.2_Missense_Mutation_p.L722F|BRWD3_uc004edz.2_Missense_Mutation_p.L796F|BRWD3_uc004eea.2_Missense_Mutation_p.L796F|BRWD3_uc004eeb.2_Missense_Mutation_p.L722F NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1126 ovary(4) 4 GCAAAGCAGTCAATTCTTCCT 0.418 NA 8 18 1.06961e-07 1.38267e-07 0.00308 1 0 PCDH11X 27328 broad.mit.edu 37 X 91873896 91873896 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:91873896C>A uc004efk.1 + 7 4846 c.4001C>A c.(4000-4002)CCG>CAG p.P1334Q PCDH11X_uc004efl.1_Missense_Mutation_p.P1324Q|PCDH11X_uc004efo.1_Missense_Mutation_p.P1297Q|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1326Q|PCDH11X_uc004efn.1_Missense_Mutation_p.P1316Q NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1334 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAGGCCAGACCGTCCAGAGGT 0.378 NSCLC(38;925 1092 2571 38200 45895) NA 25 124 4.26978e-12 5.98672e-12 0.00333 1 0 SYTL4 94121 broad.mit.edu 37 X 99956241 99956241 + Missense_Mutation SNP C C G TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:99956241C>G uc004egd.3 - 6 767 c.411G>C c.(409-411)AGG>AGC p.R137S SYTL4_uc010nnc.2_Missense_Mutation_p.R137S|SYTL4_uc004ege.3_Missense_Mutation_p.R137S|SYTL4_uc004egf.3_Missense_Mutation_p.R137S|SYTL4_uc004egg.3_Missense_Mutation_p.R137S NM_080737 NP_542775 Q96C24 SYTL4_HUMAN synaptotagmin-like 4 137 exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding ovary(2) 2 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GCAGGGACATCCTGATTATCT 0.453 NA 7 28 0 0 0.00308 0 0 PAK3 5063 broad.mit.edu 37 X 110395675 110395675 + Silent SNP G G C rs143591118 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:110395675G>C uc004epa.2 + 5 540 c.513G>C c.(511-513)TCG>TCC p.S171S PAK3_uc010npt.1_Silent_p.S156S|PAK3_uc010npu.1_Silent_p.S156S|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Silent_p.S156S|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Silent_p.S192S|PAK3_uc010npw.1_Silent_p.S177S NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 171 Linker. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 CCCATCCTTCGGTAAGTGAAA 0.333 NA TSP Lung(19;0.15) 9 33 0 0 0.006214 0 0 PAK3 5063 broad.mit.edu 37 X 110439078 110439078 + Missense_Mutation SNP A A T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:110439078A>T uc004epa.2 + 12 1191 c.1164A>T c.(1162-1164)CAA>CAT p.Q388H PAK3_uc010npt.1_Missense_Mutation_p.Q373H|PAK3_uc010npu.1_Missense_Mutation_p.Q373H|PAK3_uc004eoy.1_Missense_Mutation_p.Q128H|PAK3_uc004eoz.2_Missense_Mutation_p.Q373H|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.Q409H|PAK3_uc010npw.1_Missense_Mutation_p.Q394H NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 388 Protein kinase. multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 AGTGCCTGCAAGCTTTGGATT 0.318 NA TSP Lung(19;0.15) 19 87 0 0 0.001882 0 0 DOCK11 139818 broad.mit.edu 37 X 117722150 117722150 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:117722150C>A uc004eqp.2 + 17 1909 c.1846C>A c.(1846-1848)CAA>AAA p.Q616K DOCK11_uc004eqq.2_Missense_Mutation_p.Q382K NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 616 blood coagulation cytosol GTP binding ovary(3) 3 AAAGAATTGCCAAAATATTAC 0.318 NA 13 56 0.00010058 0.000115886 0.001368 1 0 ODZ1 10178 broad.mit.edu 37 X 123516628 123516628 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:123516628T>C uc004euj.2 - 30 7375 c.7311A>G c.(7309-7311)CAA>CAG p.Q2437Q ODZ1_uc011muj.1_Silent_p.Q2443Q|ODZ1_uc010nqy.2_Silent_p.Q2444Q NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 2437 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 CATTGTGTAATTGGAAACCAA 0.338 NA 33 150 0 0 0.006999 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125298852 125298852 + Silent SNP G G T TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:125298852G>T uc004euk.1 - 1 1083 c.1056C>A c.(1054-1056)GGC>GGA p.G352G NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 352 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GCGACCGCACGCCTGTGCCAC 0.632 NA 14 75 3.27435e-08 4.31693e-08 0.00245 1 0 SAGE1 55511 broad.mit.edu 37 X 134988265 134988265 + Silent SNP C C G rs151240146 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:134988265C>G uc004ezh.2 + 6 704 c.537C>G c.(535-537)CCC>CCG p.P179P SAGE1_uc010nry.1_Silent_p.P148P|SAGE1_uc011mvv.1_Intron NM_018666 NP_061136 Q9NXZ1 SAGE1_HUMAN sarcoma antigen 1 179 ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(192;0.000127) CAACTGGTCCCACAGGGCTTA 0.433 NA 28 89 0 0 0.008361 0 0 ARHGEF6 9459 broad.mit.edu 37 X 135829707 135829707 + Missense_Mutation SNP C C A TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:135829707C>A uc004fab.2 - 3 756 c.294G>T c.(292-294)AAG>AAT p.K98N ARHGEF6_uc011mwd.1_Translation_Start_Site|ARHGEF6_uc011mwe.1_Translation_Start_Site NM_004840 NP_004831 Q15052 ARHG6_HUMAN Rac/Cdc42 guanine nucleotide exchange factor 6 98 CH. apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|Rho guanyl-nucleotide exchange factor activity 0 Acute lymphoblastic leukemia(192;0.000127) TACTCAGTACCTTGGAGAAAT 0.378 NA 10 47 3.86212e-05 4.58951e-05 0.008291 1 0 ZIC3 7547 broad.mit.edu 37 X 136649818 136649818 + Missense_Mutation SNP C C T rs122462165 TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:136649818C>T uc004fak.2 + 1 1473 c.968C>T c.(967-969)ACG>ATG p.T323M NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 323 T -> M (in HTX1; lacks DNA-binding; does not inhibit transcriptional activation and interaction with GLI3). cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) CGAGTGCACACGGGCGAGAAG 0.592 NA 13 146 0 0 0.001855 0 0 ATP2B3 492 broad.mit.edu 37 X 152806836 152806836 + Silent SNP T T C TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:152806836T>C uc004fht.1 + 2 354 c.228T>C c.(226-228)AAT>AAC p.N76N ATP2B3_uc004fhs.1_Silent_p.N76N NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 76 Cytoplasmic (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) ACAACACCAATGACCTGGAGA 0.627 NA 28 19 0 0 0.003271 0 0 SLC6A15 55117 broad.mit.edu 37 12 85257375 85257375 + Frame_Shift_Del DEL A A - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr12:85257375delA uc001szv.2 - 11 2154 c.1661delT c.(1660-1662)ATGfs p.M554fs SLC6A15_uc010sul.1_Frame_Shift_Del_p.M447fs|SLC6A15_uc001szw.1_Frame_Shift_Del_p.M262fs NM_182767 NP_877499 Q9H2J7 S6A15_HUMAN solute carrier family 6, member 15 isoform 1 554 cellular nitrogen compound metabolic process|leucine transport|proline transport integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity pancreas(2)|ovary(1) 3 TAGGTCTTCCATAAACCTGAA 0.289 NA 7 37 --- --- --- --- NA NA NA NA NA SYNM 23336 broad.mit.edu 37 15 99672890 99672890 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr15:99672890delC uc002bup.2 + 6 4445 c.4325delC c.(4324-4326)GCAfs p.A1442fs SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1442 Tail.|Interaction with DMD and UTRN.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 GGCAAGTTAGCAGACAGCAGC 0.532 Pancreas(125;1071 1762 21750 40003 40381) NA 124 151 --- --- --- --- NA NA NA NA NA FASN 2194 broad.mit.edu 37 17 80037035 80037035 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr17:80037035delC uc002kdu.2 - 43 7637 c.7520delG c.(7519-7521)AGCfs p.S2507fs FASN_uc002kdv.1_RNA NM_004104 NP_004095 P49327 FAS_HUMAN fatty acid synthase 2507 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CTCCCGCACGCTCACGCGTGG 0.592 Colon(59;314 1043 11189 28578 32273) NA 8 40 --- --- --- --- NA NA NA NA NA XKR7 343702 broad.mit.edu 37 20 30584492 30584492 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr20:30584492delC uc002wxe.2 + 3 1146 c.972delC c.(970-972)TACfs p.Y324fs NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 324 Helical; (Potential). integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCAGCGTCTACAAGCTCTATT 0.617 NA 12 39 --- --- --- --- NA NA NA NA NA XRCC2 7516 broad.mit.edu 37 7 152346220 152346220 + Frame_Shift_Del DEL A A - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr7:152346220delA uc003wld.2 - 3 436 c.350delT c.(349-351)TTGfs p.L117fs NM_005431 NP_005422 O43543 XRCC2_HUMAN X-ray repair cross complementing protein 2 117 meiosis nucleus ATP binding|DNA binding|DNA-dependent ATPase activity breast(1)|liver(1) 2 all_hematologic(28;0.0592)|Prostate(32;0.081) OV - Ovarian serous cystadenocarcinoma(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (81;0.0429) GCAGTACACCAAAAAAAATCT 0.393 NA Homologous_recombination 7 51 --- --- --- --- NA NA NA NA NA PKHD1L1 93035 broad.mit.edu 37 8 110455991 110455991 + Frame_Shift_Del DEL A A - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chr8:110455991delA uc003yne.2 + 37 4755 c.4651delA c.(4651-4653)AAAfs p.K1551fs NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 1551 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) TACCAGGGTTAAAAATTCAAA 0.408 NA HNSCC(38;0.096) 11 47 --- --- --- --- NA NA NA NA NA SLC35A2 7355 broad.mit.edu 37 X 48768836 48768836 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:48768836delC uc004dlo.1 - 1 82 c.78delG c.(76-78)GGGfs p.G26fs SLC35A2_uc011mml.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc011mmm.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.G26fs|SLC35A2_uc004dlr.1_5'Flank|SLC35A2_uc004dlq.2_Frame_Shift_Del_p.G26fs|SLC35A2_uc011mmo.1_Frame_Shift_Del_p.G26fs NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 26 galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 CACTGGCGGTCCCCGGCTCCA 0.692 NA 2 4 --- --- --- --- NA NA NA NA NA PLXNB3 5365 broad.mit.edu 37 X 153040429 153040429 + Frame_Shift_Del DEL C C - TCGA-78-7161-01A-11D-2036-08 TCGA-78-7161-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1d917fa9-30cf-439f-817b-24cf49c459f7 944503e4-29da-42c7-addd-fc2218391c88 g.chrX:153040429delC uc004fii.2 + 24 4200 c.4026delC c.(4024-4026)TTCfs p.F1342fs PLXNB3_uc010nuk.2_Frame_Shift_Del_p.F1365fs|PLXNB3_uc011mzd.1_Frame_Shift_Del_p.F981fs|PLXNB3_uc004fij.1_RNA|SRPK3_uc004fik.2_5'Flank NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1342 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 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) GCGCCTTCTTCCCTGGCCATG 0.692 NA 19 54 --- --- --- --- NA NA NA NA NA