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 CHD5 26038 broad.mit.edu 37 1 6173020 6173020 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:6173020G>A uc001amb.1 - 34 5051 c.4951C>T c.(4951-4953)CTG>TTG p.L1651L CHD5_uc001alz.1_Silent_p.L508L|CHD5_uc001ama.1_RNA NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 1651 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 12 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) CTCAGCTCCAGCTTGTCCAGG 0.577 NA 3 31 0 0 0.004672 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700548 7700548 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:7700548A>G uc001aoi.2 + 7 806 c.599A>G c.(598-600)AAC>AGC p.N200S NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 200 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGCTCCATCAACACCGACAAG 0.627 NA 5 95 0 0 0.001168 0 0 PTCHD2 57540 broad.mit.edu 37 1 11574545 11574545 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:11574545G>A uc001ash.3 + 4 1553 c.1415G>A c.(1414-1416)TGC>TAC p.C472Y PTCHD2_uc001asi.1_Missense_Mutation_p.C472Y NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 472 SSD.|Helical; (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGCAGCAGCTGCATTGCTGCC 0.582 NA 4 81 0 0 0.009096 0 0 TNFRSF8 943 broad.mit.edu 37 1 12157231 12157231 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:12157231G>T uc001atq.2 + 3 447 c.225G>T c.(223-225)CTG>CTT p.L75L TNFRSF8_uc010obc.1_5'UTR NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 75 Extracellular (Potential).|TNFR-Cys 2. cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) ACTACTACCTGGATGAGGCCG 0.577 NA 46 111 6.23363e-37 1.02471e-36 0.00361 1 0 PRAMEF18 391003 broad.mit.edu 37 1 13474988 13474988 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:13474988T>C uc009vnu.1 - 3 1188 c.1141A>G c.(1141-1143)ACT>GCT p.T381A NM_001099850 NP_001093320 Q5VWM3 PRA18_HUMAN PRAME family member 18 381 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AAGCAGAAAGTGGTGAGGTTG 0.562 NA 30 280 0 0 0.00361 0 0 HP1BP3 50809 broad.mit.edu 37 1 21074085 21074086 + Missense_Mutation DNP CC CC AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:21074085_21074086CC>AA uc001bdw.1 - 11 1344_1345 c.1204_1205GG>TT c.(1204-1206)GGG>TTG p.G402L HP1BP3_uc001bdv.1_Missense_Mutation_p.G364L|HP1BP3_uc010odh.1_Missense_Mutation_p.G364L|HP1BP3_uc001bdy.1_Missense_Mutation_p.G402L|HP1BP3_uc010odf.1_Missense_Mutation_p.G61L|HP1BP3_uc010odg.1_Missense_Mutation_p.G250L NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 402 H15 3. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GAACCCTTTCCCAGAGATCTGT 0.371 NA 17 79 0 0 0.004672 0 0 ZBTB40 9923 broad.mit.edu 37 1 22817990 22817990 + Silent SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:22817990A>G uc001bft.2 + 4 1306 c.795A>G c.(793-795)CTA>CTG p.L265L ZBTB40_uc001bfu.2_Silent_p.L265L|ZBTB40_uc009vqi.1_Silent_p.L265L NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 265 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(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;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TAAAAAAACTAGAAATGTGTT 0.378 NA 69 182 0 0 0.00361 0 0 C1QB 713 broad.mit.edu 37 1 22986096 22986096 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:22986096C>A uc001bgd.2 + 2 279 c.147C>A c.(145-147)CCC>CCA p.P49P NM_000491 NP_000482 P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 49 Collagen-like 1. 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) CACCTGGCCCCGATGGCCAAC 0.602 NA 26 60 1.06801e-11 1.34122e-11 0.009535 1 0 MYOM3 127294 broad.mit.edu 37 1 24388533 24388533 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:24388533G>A uc001bin.3 - 33 4000 c.3837C>T c.(3835-3837)CAC>CAT p.H1279H MYOM3_uc001bil.3_Silent_p.H172H|MYOM3_uc001bim.3_Silent_p.H936H NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1279 skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GGTCCAGGATGTGAAGCCAGA 0.532 NA 51 406 0 0 0.00361 0 0 MYOM3 127294 broad.mit.edu 37 1 24421441 24421441 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:24421441A>T uc001bin.3 - 9 993 c.830T>A c.(829-831)CTG>CAG p.L277Q MYOM3_uc001bim.3_5'UTR|MYOM3_uc001bio.2_Missense_Mutation_p.L277Q|MYOM3_uc001bip.1_5'UTR NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 277 Ig-like C2-type 2. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) GACTGGCTTCAGCACCGAGGT 0.537 NA 32 45 0 0 0.002522 0 0 NIPAL3 57185 broad.mit.edu 37 1 24785406 24785406 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:24785406G>T uc001bjh.2 + 9 1209 c.802G>T c.(802-804)GAC>TAC p.D268Y NIPAL3_uc001bjg.2_Missense_Mutation_p.D268Y|NIPAL3_uc009vrc.2_Missense_Mutation_p.D186Y|NIPAL3_uc001bji.2_Missense_Mutation_p.R76L NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 268 integral to membrane 0 ACAGATGTACGACTCCTCTTT 0.468 NA 59 233 6.88731e-43 1.16954e-42 0.00361 1 0 ZNF683 257101 broad.mit.edu 37 1 26688465 26688465 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:26688465G>C uc001bmg.1 - 7 1370 c.1252C>G c.(1252-1254)CGC>GGC p.R418G ZNF683_uc001bmh.1_Missense_Mutation_p.R398G|ZNF683_uc009vsj.1_Missense_Mutation_p.R398G NM_173574 NP_775845 Q8IZ20 ZN683_HUMAN zinc finger protein 683 418 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) GAGTGCAGGCGCAGGTGGGTC 0.637 NA 10 33 0 0 0.001855 0 0 PTAFR 5724 broad.mit.edu 37 1 28476668 28476668 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:28476668C>A uc001bpl.2 - 2 992 c.865G>T c.(865-867)GAC>TAC p.D289Y PTAFR_uc001bpm.3_Missense_Mutation_p.D289Y|PTAFR_uc009vte.2_Missense_Mutation_p.D289Y NM_000952 NP_000943 P25105 PTAFR_HUMAN platelet-activating factor receptor 289 Helical; Name=7; (Potential). chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling integral to plasma membrane|nucleus phospholipid binding|platelet activating factor receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649) ATAACAGGGTCTAAGACACAG 0.537 NA 15 110 1.99824e-07 2.31307e-07 0.00499 1 0 GMEB1 10691 broad.mit.edu 37 1 29041146 29041146 + Missense_Mutation SNP C C T rs148243859 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:29041146C>T uc001bra.2 + 10 1721 c.1583C>T c.(1582-1584)CCG>CTG p.P528L GMEB1_uc001bqz.2_Missense_Mutation_p.P518L|GMEB1_uc001brb.2_Missense_Mutation_p.P518L NM_006582 NP_006573 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding 528 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity 0 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GATCCAGCCCCGGACCCAGAA 0.532 NA 9 112 0 0 0.008291 0 0 YTHDF2 51441 broad.mit.edu 37 1 29070324 29070324 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:29070324C>G uc001brc.2 + 4 2039 c.1542C>G c.(1540-1542)CGC>CGG p.R514R YTHDF2_uc001brd.2_Silent_p.R511R|YTHDF2_uc010ofx.1_Silent_p.R464R|YTHDF2_uc001bre.2_Silent_p.R464R NM_016258 NP_057342 Q9Y5A9 YTHD2_HUMAN high glucose-regulated protein 8 514 YTH. humoral immune response ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) GACACATTCGCCTAGAGAACA 0.478 NA 10 95 0 0 0.000978 0 0 CSMD2 114784 broad.mit.edu 37 1 34006151 34006151 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:34006151C>A uc001bxn.1 - 59 9202 c.9173G>T c.(9172-9174)TGG>TTG p.W3058L CSMD2_uc001bxm.1_Missense_Mutation_p.W3202L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3058 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) CTCTCCGGTCCAGGACCCATT 0.577 NA 13 161 1.49906e-05 1.6725e-05 0.00245 1 0 CSMD2 114784 broad.mit.edu 37 1 34209016 34209016 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:34209016C>A uc001bxn.1 - 14 1947 c.1918G>T c.(1918-1920)GCC>TCC p.A640S CSMD2_uc001bxm.1_Missense_Mutation_p.A680S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 640 Extracellular (Potential).|CUB 4. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GGCGCCTCGGCGGTGGCCCCA 0.617 NA 13 80 4.14922e-12 5.27816e-12 0.004007 1 0 ZMYM4 9202 broad.mit.edu 37 1 35847281 35847281 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:35847281G>T uc001byt.2 + 9 1571 c.1491G>T c.(1489-1491)TCG>TCT p.S497S ZMYM4_uc009vuu.2_Silent_p.S465S|ZMYM4_uc001byu.2_Silent_p.S173S|ZMYM4_uc009vuv.2_Silent_p.S236S NM_005095 NP_005086 Q5VZL5 ZMYM4_HUMAN zinc finger protein 262 497 MYM-type 3. multicellular organismal development DNA binding|zinc ion binding large_intestine(2)|ovary(1)|kidney(1)|skin(1) 5 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACAGTGGGTCGGGACAATGCC 0.433 NA 35 317 4.14481e-20 5.93686e-20 0.00623 1 0 EIF2C3 192669 broad.mit.edu 37 1 36437711 36437711 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:36437711G>T uc001bzp.2 + 4 655 c.399G>T c.(397-399)TGG>TGT p.W133C EIF2C3_uc001bzn.1_Missense_Mutation_p.W133C|EIF2C3_uc001bzo.2_RNA|EIF2C3_uc001bzq.2_5'UTR NM_024852 NP_079128 Q9H9G7 AGO3_HUMAN eukaryotic translation initiation factor 2C, 3 133 mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGGTGAGTTGGCACCTACTGC 0.483 Colon(144;60 2363 31043 40539) NA 30 184 9.78485e-24 1.45962e-23 0.002836 1 0 SNIP1 79753 broad.mit.edu 37 1 38005774 38005774 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:38005774C>A uc001cbi.2 - 3 983 c.910G>T c.(910-912)GCG>TCG p.A304S SNIP1_uc010oid.1_RNA NM_024700 NP_078976 Q8TAD8 SNIP1_HUMAN Smad nuclear interacting protein 304 FHA. production of miRNAs involved in gene silencing by miRNA nucleus protein binding upper_aerodigestive_tract(1)|lung(1) 2 Myeloproliferative disorder(586;0.0393) TGAAAGACCGCATGCTGCTTT 0.428 NA 61 522 1.15098e-32 1.83612e-32 0.00361 1 0 WDR65 149465 broad.mit.edu 37 1 43638557 43638557 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:43638557C>A uc001cip.1 + 2 254 c.133C>A c.(133-135)CAG>AAG p.Q45K EBNA1BP2_uc001cio.2_Intron|WDR65_uc010ojz.1_Silent_p.I3I|WDR65_uc001ciq.1_Missense_Mutation_p.Q45K|EBNA1BP2_uc001cim.2_5'Flank|EBNA1BP2_uc001cin.2_5'Flank|EBNA1BP2_uc010ojx.1_5'Flank|EBNA1BP2_uc010ojy.1_5'Flank NM_152498 NP_689711 Q96MR6 WDR65_HUMAN WD repeat domain 65 45 skin(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAATGTGGATCAGAAATGGCA 0.313 NA 53 176 2.19297e-23 3.26676e-23 0.00361 1 0 KIAA0467 23334 broad.mit.edu 37 1 43909130 43909130 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:43909130T>C uc001cjk.1 + 46 6372 c.5910T>C c.(5908-5910)TCT>TCC p.S1970S KIAA0467_uc001cjl.1_5'Flank NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 2869 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CAGAGACCTCTGGACCCCCTG 0.612 NA 7 24 0 0 0.00308 0 0 PTPRF 5792 broad.mit.edu 37 1 44084819 44084819 + Missense_Mutation SNP G G A rs70937045 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:44084819G>A uc001cjr.2 + 27 4932 c.4592G>A c.(4591-4593)CGA>CAA p.R1531Q PTPRF_uc001cjs.2_Missense_Mutation_p.R1522Q|PTPRF_uc001cju.2_Missense_Mutation_p.R920Q|PTPRF_uc009vwt.2_Missense_Mutation_p.R1091Q|PTPRF_uc001cjv.2_Missense_Mutation_p.R1002Q|PTPRF_uc001cjw.2_Missense_Mutation_p.R757Q NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1531 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GCCTTCCTACGACGGGTCAAG 0.627 NA 7 29 0 0 0.001984 0 0 KDM4A 9682 broad.mit.edu 37 1 44137514 44137514 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:44137514G>A uc001cjx.2 + 11 1868 c.1702G>A c.(1702-1704)GCT>ACT p.A568T KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 568 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 AGGAAGCGCCGCTAGAAGTTT 0.612 NA 6 187 0 0 0.001984 0 0 FAF1 11124 broad.mit.edu 37 1 50941174 50941174 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:50941174C>A uc009vyx.1 - 19 1894 c.1831G>T c.(1831-1833)GAT>TAT p.D611Y FAF1_uc009vyw.1_RNA|FAF1_uc001cse.1_Missense_Mutation_p.D611Y|FAF1_uc010onc.1_Missense_Mutation_p.D369Y NM_007051 NP_008982 Q9UNN5 FAF1_HUMAN FAS-associated factor 1 611 UBX. apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526) TTGTACTCATCCCATGGAAAT 0.488 NA 12 581 5.35267e-07 6.16956e-07 0.007413 1 0 TXNDC12 51060 broad.mit.edu 37 1 52486661 52486661 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:52486661G>A uc001cti.2 - 7 742 c.463C>T c.(463-465)CAG>TAG p.Q155* NM_015913 NP_056997 O95831 AIFM1_HUMAN thioredoxin domain containing 12 precursor Error:Variant_position_missing_in_O95831_after_alignment activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding p.Q155L(1) ovary(1) 1 AGCCTTTCCTGAGCTTCCTTC 0.383 NA 46 310 0 0 0.00361 0 0 C8B 732 broad.mit.edu 37 1 57409484 57409484 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:57409484G>T uc001cyp.2 - 8 1186 c.1119C>A c.(1117-1119)AAC>AAA p.N373K C8B_uc010oon.1_Missense_Mutation_p.N311K|C8B_uc010ooo.1_Missense_Mutation_p.N321K NM_000066 NP_000057 P07358 CO8B_HUMAN complement component 8, beta polypeptide 373 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex central_nervous_system(2)|large_intestine(1)|ovary(1) 4 CATGGACGTTGTTAAGAGTAT 0.438 NA 52 296 4.63999e-43 7.89163e-43 0.00361 1 0 INSL5 10022 broad.mit.edu 37 1 67266839 67266839 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:67266839G>T uc001dcw.2 - 1 101 c.66C>A c.(64-66)AGC>AGA p.S22R NM_005478 NP_005469 Q9Y5Q6 INSL5_HUMAN insulin-like 5 precursor 22 extracellular region hormone activity 0 CAGACTCCTTGCTCCGCACTT 0.463 NA 74 148 4.38691e-48 7.64171e-48 0.00361 1 0 LRRC7 57554 broad.mit.edu 37 1 70504811 70504811 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:70504811A>G uc001dep.2 + 19 3220 c.3190A>G c.(3190-3192)AAA>GAA p.K1064E LRRC7_uc009wbg.2_Missense_Mutation_p.K348E|LRRC7_uc001deq.2_Missense_Mutation_p.K305E NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1064 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACAGGCCAGCAAAAACATCGC 0.463 NA 20 54 0 0 0.010504 0 0 NEGR1 257194 broad.mit.edu 37 1 72400910 72400910 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:72400910C>A uc001dfw.2 - 2 361 c.261G>T c.(259-261)GTG>GTT p.V87V NEGR1_uc001dfv.2_5'UTR|NEGR1_uc010oqs.1_Silent_p.V87V NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 87 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) CTCGAGGATCCACTGACCACT 0.433 NA 24 85 3.6726e-16 4.98293e-16 0.003954 1 0 C1orf173 127254 broad.mit.edu 37 1 75042610 75042610 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:75042610T>A uc001dgg.2 - 13 2406 c.2187A>T c.(2185-2187)TCA>TCT p.S729S uc001dgh.2_5'Flank NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 729 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CTAATGGCAATGAATCCTTTC 0.378 NA 6 188 0 0 0.001168 0 0 C1orf173 127254 broad.mit.edu 37 1 75097613 75097613 + Splice_Site SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:75097613C>G uc001dgg.2 - 7 823 c.604_splice c.e7-1 p.G202_splice C1orf173_uc001dgi.3_Splice_Site NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CCTTCTTGCCCTGTAATCATA 0.368 NA 21 407 0 0 0.00278 0 0 PTGFR 5737 broad.mit.edu 37 1 78959150 78959150 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:78959150G>C uc001din.2 + 2 988 c.722G>C c.(721-723)AGA>ACA p.R241T PTGFR_uc001dim.2_Missense_Mutation_p.R241T NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 241 Cytoplasmic (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) AGACAAGGCAGATCTCATCAT 0.423 NA 22 98 0 0 0.00632 0 0 ELTD1 64123 broad.mit.edu 37 1 79402013 79402013 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:79402013A>T uc001diq.3 - 7 1000 c.844T>A c.(844-846)TTT>ATT p.F282I NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 282 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) CTCTTTGGAAATATATTTATG 0.279 NA 29 232 0 0 0.005524 0 0 GBP1 2633 broad.mit.edu 37 1 89523812 89523812 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:89523812T>G uc001dmx.2 - 6 957 c.737A>C c.(736-738)AAG>ACG p.K246T NM_002053 NP_002044 P32455 GBP1_HUMAN guanylate binding protein 1, 246 interferon-gamma-mediated signaling pathway plasma membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.123) all cancers(265;0.0156)|Epithelial(280;0.0291) CTGGGCAAGCTTCCTGCGGTG 0.433 NA 8 233 0 0 0.001368 0 0 TGFBR3 7049 broad.mit.edu 37 1 92174229 92174229 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:92174229C>A uc001doh.2 - 14 2744 c.2278G>T c.(2278-2280)GAA>TAA p.E760* TGFBR3_uc009wde.2_Nonsense_Mutation_p.E455*|TGFBR3_uc010osy.1_Nonsense_Mutation_p.E718*|TGFBR3_uc001doi.2_Nonsense_Mutation_p.E759*|TGFBR3_uc001doj.2_Nonsense_Mutation_p.E759* NM_003243 NP_003234 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 760 Extracellular (Potential). BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding ovary(3) 3 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) CCTTTAGATTCTGCTTCATGG 0.493 NA 56 237 1.73933e-33 2.78706e-33 0.00361 1 0 ABCA4 24 broad.mit.edu 37 1 94574149 94574149 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:94574149G>T uc001dqh.2 - 4 530 c.426C>A c.(424-426)CAC>CAA p.H142Q ABCA4_uc010otn.1_Missense_Mutation_p.H142Q NM_000350 NP_000341 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A member 4 142 Extracellular. phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1) 12 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) TTCTCTCCGGGTGAGTCCGGA 0.408 NA 52 138 9.77497e-20 1.39458e-19 0.00361 1 0 LPPR4 9890 broad.mit.edu 37 1 99767413 99767413 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:99767413A>C uc001dse.2 + 6 1032 c.926A>C c.(925-927)TAT>TCT p.Y309S LPPR4_uc010oue.1_Intron NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 309 Helical; (Potential). phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GTTGATGTCTATTGTGGCTTT 0.358 NA 17 167 0 0 0.007413 0 0 AGL 178 broad.mit.edu 37 1 100336081 100336081 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:100336081G>T uc001dsi.1 + 6 1190 c.790G>T c.(790-792)GGG>TGG p.G264W AGL_uc001dsj.1_Missense_Mutation_p.G264W|AGL_uc001dsk.1_Missense_Mutation_p.G264W|AGL_uc001dsl.1_Missense_Mutation_p.G264W|AGL_uc001dsm.1_Missense_Mutation_p.G248W|AGL_uc001dsn.1_Missense_Mutation_p.G247W NM_000642 NP_000633 P35573 GDE_HUMAN amylo-1,6-glucosidase, 264 4-alpha-glucanotransferase. glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) TGTTGCAGAAGGGAAATACAA 0.383 NA 35 123 1.41504e-22 2.08776e-22 0.002852 1 0 COL11A1 1301 broad.mit.edu 37 1 103347308 103347308 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:103347308G>T uc001dul.2 - 65 5303 c.4985C>A c.(4984-4986)TCA>TAA p.S1662* COL11A1_uc001duk.2_Nonsense_Mutation_p.S858*|COL11A1_uc001dum.2_Nonsense_Mutation_p.S1674*|COL11A1_uc001dun.2_Nonsense_Mutation_p.S1623*|COL11A1_uc009weh.2_Nonsense_Mutation_p.S1546* NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1662 Fibrillar collagen NC1. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTTTGGCCATGATGAAATTCT 0.318 NA 10 86 9.31168e-06 1.04756e-05 0.001855 1 0 PRPF38B 55119 broad.mit.edu 37 1 109241225 109241225 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:109241225G>T uc001dvv.3 + 5 841 c.559_splice c.e5-1 p.D187_splice PRPF38B_uc001dvw.3_Splice_Site_p.D76_splice|PRPF38B_uc010ouz.1_Splice_Site NM_018061 NP_060531 Q5VTL8 PR38B_HUMAN PRP38 pre-mRNA processing factor 38 (yeast) mRNA processing|RNA splicing spliceosomal complex 0 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) TGTTTCTGTAGGACCTAGATG 0.353 NA 50 96 4.6707e-30 7.37479e-30 0.00361 1 0 SYT6 148281 broad.mit.edu 37 1 114640465 114640465 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:114640465C>A uc001eev.2 - 6 1394 c.1144G>T c.(1144-1146)GTG>TTG p.V382L SYT6_uc001eeu.2_Missense_Mutation_p.V27L NM_205848 NP_995320 Q5T7P8 SYT6_HUMAN synaptotagmin VI 467 Cytoplasmic (Potential). acrosomal vesicle exocytosis cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Lung SC(450;0.184) all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGATCCCCACACGACAGACT 0.567 NA 33 216 2.52637e-11 3.15797e-11 0.005524 1 0 PTGFRN 5738 broad.mit.edu 37 1 117509740 117509740 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:117509740T>C uc001egv.1 + 6 1984 c.1847T>C c.(1846-1848)CTG>CCG p.L616P NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 616 Ig-like C2-type 5.|Extracellular (Potential). endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding liver(1) 1 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) GTGGTGAAGCTGGAGAATTGG 0.498 NA 50 649 0 0 0.00361 0 0 WARS2 10352 broad.mit.edu 37 1 119619185 119619185 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:119619185T>C uc001ehn.2 - 2 164 c.136A>G c.(136-138)ATC>GTC p.I46V WARS2_uc010oxf.1_5'UTR|WARS2_uc001ehm.2_Missense_Mutation_p.I46V|WARS2_uc010oxg.1_Missense_Mutation_p.I46V|WARS2_uc010oxh.1_Missense_Mutation_p.I46V|WARS2_uc010oxi.1_5'UTR NM_015836 NP_056651 Q9UGM6 SYWM_HUMAN mitochondrial tryptophanyl tRNA synthetase 2 46 tryptophanyl-tRNA aminoacylation mitochondrial matrix ATP binding|tryptophan-tRNA ligase activity 0 all_neural(166;0.187) all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564) Lung(183;0.0629) L-Tryptophan(DB00150) AGGTGGAGGATTCCTGTAGGT 0.448 NA 59 511 0 0 0.00361 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144863409 144863409 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:144863409C>A uc001elw.3 - 37 6285 c.5994G>T c.(5992-5994)CAG>CAT p.Q1998H NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.Q1892H|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q1005H|PDE4DIP_uc001ema.2_3'UTR NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1998 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCTCTTCACACTGTTGCTGCA 0.522 NA T PDGFRB MPD 9 515 1.3612e-06 1.55074e-06 0.003163 1 0 PIP5K1A 8394 broad.mit.edu 37 1 151204252 151204252 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:151204252G>T uc001exj.2 + 5 795 c.343G>T c.(343-345)GTG>TTG p.V115L PIP5K1A_uc001exi.2_Missense_Mutation_p.V102L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.V103L|PIP5K1A_uc001exk.2_Missense_Mutation_p.V102L|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 115 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) AGATTTCTACGTGGTTGAGAG 0.488 Pancreas(80;36 1443 2325 16095 21302) NA 103 290 1.4093e-69 2.62876e-69 0.00361 1 0 PI4KB 5298 broad.mit.edu 37 1 151288658 151288658 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:151288658C>A uc001ext.2 - 2 715 c.300G>T c.(298-300)GAG>GAT p.E100D PI4KB_uc001exr.2_Missense_Mutation_p.E112D|PI4KB_uc001exs.2_Missense_Mutation_p.E100D|PI4KB_uc001exu.2_Missense_Mutation_p.E100D|PI4KB_uc010pcw.1_Intron|PI4KB_uc009wmq.1_Missense_Mutation_p.E112D NM_002651 NP_002642 Q9UBF8 PI4KB_HUMAN catalytic phosphatidylinositol 4-kinase beta 100 phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane 1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding ovary(2)|skin(2) 4 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) TCTCATCTTCCTCCTCCCTGA 0.577 Colon(154;765 1838 9854 28443 37492) NA 47 224 5.66675e-16 7.66929e-16 0.00361 1 0 THEM4 117145 broad.mit.edu 37 1 151849531 151849531 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:151849531C>T uc001ezj.1 - 5 807 c.628G>A c.(628-630)GTT>ATT p.V210I THEM4_uc001ezk.1_RNA NM_053055 NP_444283 Q5T1C6 THEM4_HUMAN thioesterase superfamily member 4 210 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|ruffle membrane 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TTACAGGAAACAAAAAATTTC 0.368 NA 6 271 0 0 0.001984 0 0 FLG 2312 broad.mit.edu 37 1 152285480 152285480 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:152285480G>C uc001ezu.1 - 3 1918 c.1882C>G c.(1882-1884)CAG>GAG p.Q628E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 628 Filaggrin 3.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GAGTGTCCCTGACTGTCACTG 0.567 NA Ichthyosis 104 230 0 0 0.00361 0 0 LCE3D 84648 broad.mit.edu 37 1 152552354 152552354 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:152552354T>A uc001fab.2 - 2 116 c.59A>T c.(58-60)AAG>ATG p.K20M NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 20 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) TGGGGGACACTTGGGTGAGGG 0.602 NA 55 183 0 0 0.00361 0 0 LCE3D 84648 broad.mit.edu 37 1 152552359 152552359 + Silent SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:152552359T>G uc001fab.2 - 2 111 c.54A>C c.(52-54)TCA>TCC p.S18S NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 18 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) GACACTTGGGTGAGGGACACT 0.597 NA 55 191 0 0 0.00361 0 0 LCE3D 84648 broad.mit.edu 37 1 152552407 152552407 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:152552407G>T uc001fab.2 - 2 63 c.6C>A c.(4-6)TCC>TCA p.S2S NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN late cornified envelope 3D 2 keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) TCTGCTGGCAGGACATCTTGG 0.547 NA 40 203 6.31075e-24 9.4399e-24 0.00361 1 0 LCE4A 199834 broad.mit.edu 37 1 152681629 152681629 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:152681629C>T uc001fak.2 + 1 107 c.78C>T c.(76-78)CCC>CCT p.P26P NM_178356 NP_848133 Q5TA78 LCE4A_HUMAN late cornified envelope 4A 26 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.116) CAAAATGTCCCTCAAAGTGTG 0.572 NA 49 305 0 0 0.00361 0 0 SPRR1B 6699 broad.mit.edu 37 1 153005016 153005016 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:153005016C>A uc001fba.2 + 2 259 c.195C>A c.(193-195)TGC>TGA p.C65* SPRR1B_uc009wnx.1_Intron NM_003125 NP_003116 P22528 SPR1B_HUMAN small proline-rich protein 1B 65 5.|6 X 8 AA approximate tandem repeats. keratinization|peptide cross-linking cornified envelope|cytoplasm protein binding, bridging|structural molecule activity ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CAGAGCCATGCCACCCCAAGG 0.617 NA 99 358 5.93169e-28 9.19114e-28 0.00361 1 0 SPRR2E 6704 broad.mit.edu 37 1 153066043 153066043 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:153066043G>T uc001fbh.2 - 2 246 c.185C>A c.(184-186)CCC>CAC p.P62H SPRR2D_uc009wnz.2_Intron|SPRR2A_uc001fbf.2_Intron|SPRR2A_uc009woa.2_Intron NM_001024209 NP_001019380 P22531 SPR2E_HUMAN small proline-rich protein 2E 62 keratinization cornified envelope|cytoplasm protein binding|structural molecule activity ovary(1) 1 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) TGGCTGGCAGGGTGGGGAAGG 0.552 NA 184 656 1.01623e-67 1.88904e-67 0.00361 1 0 LELP1 149018 broad.mit.edu 37 1 153177368 153177368 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:153177368C>A uc001fbl.2 + 2 295 c.185C>A c.(184-186)CCC>CAC p.P62H NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 62 Cys/Pro-rich. ovary(1) 1 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CTGCCCTGCCCCTCGCAGTCT 0.592 NA 17 237 1.48734e-19 2.11916e-19 0.003214 1 0 FCRL4 83417 broad.mit.edu 37 1 157556176 157556176 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:157556176A>T uc001fqw.2 - 6 1053 c.917T>A c.(916-918)CTG>CAG p.L306Q FCRL4_uc010phy.1_RNA NM_031282 NP_112572 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 precursor 306 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(2)|kidney(1)|skin(1) 4 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GACAAGGACCAGCATCTCCCC 0.602 NA 64 176 0 0 0.00361 0 0 CD5L 922 broad.mit.edu 37 1 157803126 157803126 + Nonsense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:157803126T>A uc001frk.3 - 5 1038 c.895A>T c.(895-897)AAA>TAA p.K299* NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 299 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCATAGCATTTCCGGTCTCTG 0.577 NA 66 183 0 0 0.00361 0 0 OR6K2 81448 broad.mit.edu 37 1 158670253 158670253 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:158670253T>A uc001fsu.1 - 1 190 c.190A>T c.(190-192)AGT>TGT p.S64C NM_001005279 NP_001005279 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, 64 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_hematologic(112;0.0378) GAAAGAGCACTGATAAAAGTA 0.438 NA 156 386 0 0 0.00361 0 0 OR6K3 391114 broad.mit.edu 37 1 158687393 158687393 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:158687393G>T uc010pip.1 - 1 561 c.561C>A c.(559-561)CCC>CCA p.P187P NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, 187 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(112;0.0378) GGATTTGGTTGGGCCCACAGA 0.512 NA 184 474 3.16392e-82 5.98431e-82 0.00361 1 0 MNDA 4332 broad.mit.edu 37 1 158815548 158815548 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:158815548C>A uc001fsz.1 + 5 942 c.742C>A c.(742-744)CAT>AAT p.H248N NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 248 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) TCAATATTTCCATGTGAAAGT 0.378 NA 51 149 1.40541e-12 1.8048e-12 0.00361 1 0 CD244 51744 broad.mit.edu 37 1 160808305 160808305 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:160808305G>T uc009wtq.2 - 5 963 c.785C>A c.(784-786)ACC>AAC p.T262N CD244_uc001fxa.2_Missense_Mutation_p.T257N|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Missense_Mutation_p.T165N NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 262 Cytoplasmic (Potential). blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTTGGGACTGGTCTCTGAGGG 0.488 NA 54 142 1.41401e-22 2.08776e-22 0.00361 1 0 CD244 51744 broad.mit.edu 37 1 160811267 160811267 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:160811267C>A uc009wtq.2 - 3 581 c.403G>T c.(403-405)GAG>TAG p.E135* CD244_uc001fxa.2_Nonsense_Mutation_p.E130*|CD244_uc009wtp.2_RNA|CD244_uc009wtr.2_Intron|CD244_uc010pjt.1_Intron NM_016382 NP_057466 Q9BZW8 CD244_HUMAN CD244 natural killer cell receptor 2B4 135 Extracellular (Potential).|Ig-like 2. blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CGGGGTTTCTCAACTTTATCT 0.507 NA 21 111 3.62473e-10 4.41343e-10 0.001882 1 0 FCRLA 84824 broad.mit.edu 37 1 161680653 161680653 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:161680653G>A uc001gbe.2 + 3 494 c.252G>A c.(250-252)CAG>CAA p.Q84Q FCRLA_uc001gbd.2_Silent_p.Q78Q|FCRLA_uc001gbf.2_Silent_p.Q78Q|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Silent_p.Q78Q|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 61 cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CTGGCTTCCAGGTCAAGGCCT 0.562 NA 40 123 0 0 0.009718 0 0 FCRLA 84824 broad.mit.edu 37 1 161680697 161680698 + Nonsense_Mutation DNP CC CC AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:161680697_161680698CC>AA uc001gbe.2 + 3 538_539 c.296_297CC>AA c.(295-297)TCC>TAA p.S99* FCRLA_uc001gbd.2_Nonsense_Mutation_p.S93*|FCRLA_uc001gbf.2_Nonsense_Mutation_p.S93*|FCRLA_uc001gbg.2_Intron|FCRLA_uc009wuo.2_Intron|FCRLA_uc009wup.2_Nonsense_Mutation_p.S93*|FCRLA_uc009wuq.2_Intron NM_032738 NP_116127 Q7L513 FCRLA_HUMAN Fc receptor-like and mucin-like 1 76 Ig-like C2-type 1. cell differentiation cytoplasm|extracellular region 0 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CTGATTGTGTCCTATGGTGAGG 0.554 NA 43 117 0 0 0.004672 0 0 NOS1AP 9722 broad.mit.edu 37 1 162336927 162336927 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:162336927G>T uc001gbv.2 + 10 1578 c.1191G>T c.(1189-1191)GAG>GAT p.E397D NOS1AP_uc010pks.1_RNA|NOS1AP_uc001gbw.2_Missense_Mutation_p.E392D|NOS1AP_uc009wut.1_Missense_Mutation_p.E102D NM_014697 NP_055512 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor 397 regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding lung(2)|upper_aerodigestive_tract(1) 3 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) CTAAGCCAGAGGACCTGCATT 0.667 NA 22 96 9.57634e-11 1.18199e-10 0.00333 1 0 NUF2 83540 broad.mit.edu 37 1 163298635 163298635 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:163298635G>T uc001gcq.1 + 5 576 c.276_splice c.e5-1 p.L92_splice NUF2_uc001gcp.2_Splice_Site_p.L92_splice|NUF2_uc001gcr.1_Splice_Site_p.L92_splice|NUF2_uc009wvc.1_Splice_Site_p.L92_splice NM_145697 NP_663735 Q9BZD4 NUF2_HUMAN NUF2, NDC80 kinetochore complex component cell division|chromosome segregation|mitotic prometaphase condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus protein binding ovary(3)|skin(1) 4 all_hematologic(923;0.101) TCATCTTCAAGGGACTCATTT 0.333 NA 87 294 6.00251e-64 1.1025e-63 0.00361 1 0 BAT2L2 23215 broad.mit.edu 37 1 171482234 171482234 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:171482234C>G uc010pmg.1 + 3 473 c.207C>G c.(205-207)GGC>GGG p.G69G BAT2L2_uc001ghq.1_Silent_p.G71G|BAT2L2_uc001ghr.1_Silent_p.G71G NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 69 protein C-terminus binding 0 AAAACAAAGGCAATGATCCTA 0.423 NA 9 379 0 0 0.008291 0 0 KLHL20 27252 broad.mit.edu 37 1 173735426 173735426 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:173735426G>T uc001gjc.2 + 8 1472 c.1293G>T c.(1291-1293)GAG>GAT p.E431D KLHL20_uc010pmr.1_Missense_Mutation_p.E242D|KLHL20_uc009wwf.2_Missense_Mutation_p.E413D NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 431 Kelch 3. cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 ACATTGTTGAGAGGTGATCTT 0.343 GBM(159;862 2695 6559 23041) NA 151 353 2.18101e-91 4.15431e-91 0.00361 1 0 PAPPA2 60676 broad.mit.edu 37 1 176525673 176525673 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:176525673C>G uc001gkz.2 + 2 1379 c.215C>G c.(214-216)CCC>CGC p.P72R PAPPA2_uc001gky.1_Missense_Mutation_p.P72R|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 72 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGAGTCTACCCCAGCAGGGCT 0.557 NA 181 494 0 0 0.00361 0 0 PAPPA2 60676 broad.mit.edu 37 1 176734882 176734882 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:176734882C>G uc001gkz.2 + 15 5396 c.4232C>G c.(4231-4233)TCT>TGT p.S1411C PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1411 Sushi 1. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 AACTGTACCTCTATAGGCCCA 0.517 NA 31 660 0 0 0.002852 0 0 RALGPS2 55103 broad.mit.edu 37 1 178854254 178854255 + Missense_Mutation DNP GG GG CT TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:178854254_178854255GG>CT uc001glz.2 + 12 1286_1287 c.948_949GG>CT c.(946-951)GTGGCA>GTCTCA p.A317S RALGPS2_uc010pnb.1_Missense_Mutation_p.A317S NM_152663 NP_689876 Q86X27 RGPS2_HUMAN Ral GEF with PH domain and SH3 binding motif 2 317 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity|protein binding 0 GAAAAAGTGTGGCAGCTGAAGG 0.446 NA 34 64 0 0 0.004672 0 0 CACNA1E 777 broad.mit.edu 37 1 181689959 181689959 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:181689959A>C uc001gow.2 + 15 2089 c.1924A>C c.(1924-1926)ACC>CCC p.T642P CACNA1E_uc009wxs.2_Missense_Mutation_p.T549P NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 642 Extracellular (Potential).|II. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AAATTTTGATACCTTCCCTGC 0.428 NA 12 35 0 0 0.008871 0 0 CACNA1E 777 broad.mit.edu 37 1 181759585 181759585 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:181759585G>T uc001gow.2 + 44 5956 c.5791G>T c.(5791-5793)GGC>TGC p.G1931C CACNA1E_uc009wxs.2_Missense_Mutation_p.G1819C|CACNA1E_uc009wxt.2_Missense_Mutation_p.G1157C NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1931 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TTTCAGGAGTGGCCGGAGTGG 0.542 NA 15 67 7.87624e-14 1.03107e-13 0.00278 1 0 LAMC1 3915 broad.mit.edu 37 1 183090909 183090909 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:183090909G>T uc001gpy.3 + 12 2299 c.2042G>T c.(2041-2043)GGA>GTA p.G681V NM_002293 NP_002284 P11047 LAMC1_HUMAN laminin, gamma 1 precursor 681 Laminin IV type A. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent ovary(3)|large_intestine(1)|kidney(1) 5 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CCTGGGCCTGGAGTCCCTGCA 0.493 NA 60 173 5.44642e-36 8.8854e-36 0.00361 1 0 APOBEC4 403314 broad.mit.edu 37 1 183617876 183617876 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:183617876G>A uc001gqn.2 - 2 313 c.41C>T c.(40-42)ACA>ATA p.T14I RGL1_uc010pof.1_Intron|RGL1_uc001gqm.2_Intron|RGL1_uc010pog.1_Intron|RGL1_uc010poh.1_Intron NM_203454 NP_982279 Q8WW27 ABEC4_HUMAN apolipoprotein B 14 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding 0 TTTTACTATTGTTCCATGATT 0.378 NA 53 195 0 0 0.00361 0 0 HMCN1 83872 broad.mit.edu 37 1 185892747 185892747 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:185892747A>G uc001grq.1 + 8 1476 c.1247A>G c.(1246-1248)CAG>CGG p.Q416R NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 416 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TACCTCTTCCAGAGAGTATCA 0.358 NA 37 95 0 0 0.007835 0 0 FAM5C 339479 broad.mit.edu 37 1 190067423 190067423 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:190067423C>G uc001gse.1 - 8 2258 c.2026G>C c.(2026-2028)GAC>CAC p.D676H FAM5C_uc010pot.1_Missense_Mutation_p.D574H NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 676 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GCTTCAGGGTCAAAGTGCATG 0.458 NA 58 270 0 0 0.00361 0 0 FAM5C 339479 broad.mit.edu 37 1 190250721 190250721 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:190250721C>A uc001gse.1 - 3 628 c.396G>T c.(394-396)GGG>GGT p.G132G FAM5C_uc010pot.1_Intron NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 132 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) AGAAATGTGTCCCATATTTCT 0.453 NA 38 139 4.67007e-22 6.87149e-22 0.00874 1 0 CDC73 79577 broad.mit.edu 37 1 193111176 193111176 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:193111176A>G uc001gtb.2 + 7 952 c.709A>G c.(709-711)ATC>GTC p.I237V NM_024529 NP_078805 Q6P1J9 CDC73_HUMAN parafibromin 237 cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent Cdc73/Paf1 complex protein binding parathyroid(46)|ovary(1)|breast(1)|pancreas(1) 49 ACGAACAACTATCTTACAAAG 0.403 NA Hyperparathyroidism_Familial_Isolated|Hyperparathyroidism-Jaw_Tumor_Syndrome 14 200 0 0 0.010504 0 0 CFH 3075 broad.mit.edu 37 1 196654266 196654266 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:196654266A>C uc001gtj.3 + 7 1103 c.863A>C c.(862-864)GAT>GCT p.D288A CFH_uc001gti.3_Missense_Mutation_p.D288A|CFH_uc009wyw.2_Missense_Mutation_p.D288A|CFH_uc009wyx.2_Missense_Mutation_p.D224A NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 288 Sushi 5. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AGAACTGGAGATGAAATCACG 0.383 NA 15 749 0 0 0.004007 0 0 CFHR4 10877 broad.mit.edu 37 1 196871741 196871741 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:196871741C>A uc001gto.2 + 2 321 c.252C>A c.(250-252)TGC>TGA p.C84* CFHR4_uc009wyy.2_Nonsense_Mutation_p.C83*|CFHR4_uc001gtp.2_Nonsense_Mutation_p.C84* NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 84 Sushi 1. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 CGGTCCCATGCCTCAGTAAGT 0.348 NA 101 237 3.20437e-51 5.61804e-51 0.00361 1 0 CFHR5 81494 broad.mit.edu 37 1 196967432 196967432 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:196967432C>A uc001gts.3 + 7 1273 c.1145C>A c.(1144-1146)ACA>AAA p.T382K NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 382 Sushi 6. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 GTAGACTGCACAGGTAAGATT 0.279 NA 13 68 3.45872e-05 3.83513e-05 0.004007 1 0 ASPM 259266 broad.mit.edu 37 1 197070066 197070066 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:197070066T>C uc001gtu.2 - 18 8572 c.8315A>G c.(8314-8316)CAA>CGA p.Q2772R ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.Q620R NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2772 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GAGTGCAGATTGGTTAACAAT 0.383 NA 34 257 0 0 0.00623 0 0 CRB1 23418 broad.mit.edu 37 1 197396677 197396677 + Missense_Mutation SNP T T C rs62636267 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:197396677T>C uc001gtz.2 + 7 2357 c.2222T>C c.(2221-2223)ATG>ACG p.M741T CRB1_uc010poz.1_Missense_Mutation_p.M672T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.M629T|CRB1_uc010ppb.1_Intron|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_Missense_Mutation_p.M222T|CRB1_uc001gub.1_Missense_Mutation_p.M390T NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 741 Extracellular (Potential).|Laminin G-like 2. M -> T (in LCA8). cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGCCTCTCCATGTTTGTCCGA 0.468 NA 4 109 0 0 0.009096 0 0 LHX9 56956 broad.mit.edu 37 1 197890482 197890482 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:197890482C>A uc001guk.1 + 3 863 c.426C>A c.(424-426)GCC>GCA p.A142A LHX9_uc001gui.1_Silent_p.A133A|LHX9_uc001guj.1_Silent_p.A148A NM_020204 NP_064589 Q9NQ69 LHX9_HUMAN LIM homeobox 9 isoform 1 142 LIM zinc-binding 2. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1) 1 GCATTTCCGCCTCGGAGATGG 0.572 NA 12 72 2.61681e-11 3.2597e-11 0.00245 1 0 CACNA1S 779 broad.mit.edu 37 1 201029820 201029820 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:201029820A>G uc001gvv.2 - 26 3607 c.3380T>C c.(3379-3381)CTC>CCC p.L1127P NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 1127 IV.|Helical; Name=S1 of repeat IV; (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAGCATGATGAGGGCAAACAT 0.537 NA 9 390 0 0 0.000978 0 0 PPP1R12B 4660 broad.mit.edu 37 1 202398051 202398051 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:202398051G>T uc001gya.1 + 6 1059 c.915G>T c.(913-915)CAG>CAT p.Q305H PPP1R12B_uc001gxy.2_Missense_Mutation_p.Q305H|PPP1R12B_uc009xad.1_Missense_Mutation_p.Q111H|PPP1R12B_uc009xae.1_Missense_Mutation_p.Q305H|PPP1R12B_uc001gxz.1_Missense_Mutation_p.Q305H NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 305 regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) AGAAGAAGCAGAATGTGGTGA 0.453 NA 17 88 6.33239e-15 8.40169e-15 0.010504 1 0 PRELP 5549 broad.mit.edu 37 1 203452395 203452395 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:203452395C>A uc001gzs.2 + 2 283 c.83C>A c.(82-84)CCC>CAC p.P28H PRELP_uc001gzt.2_Missense_Mutation_p.P28H NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 28 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) CGACCAAGACCCGGGACTGGG 0.647 NA 18 46 7.26314e-15 9.58948e-15 0.007291 1 0 CNTN2 6900 broad.mit.edu 37 1 205030382 205030382 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:205030382C>A uc001hbr.2 + 8 1076 c.807C>A c.(805-807)CCC>CCA p.P269P CNTN2_uc001hbq.1_Silent_p.P160P|CNTN2_uc009xbi.2_Silent_p.P160P|CNTN2_uc001hbs.2_Silent_p.P57P NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 269 Ig-like C2-type 3. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GCCCTGTCCCCCGGATCAAGT 0.652 Melanoma(183;2548 2817 37099 41192) NA OREG0014144 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 34 6.49762e-13 8.38403e-13 0.006122 1 0 CNTN2 6900 broad.mit.edu 37 1 205042265 205042265 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:205042265C>A uc001hbr.2 + 22 3183 c.2914C>A c.(2914-2916)CCA>ACA p.P972T CNTN2_uc001hbs.2_Missense_Mutation_p.P760T NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 972 Fibronectin type-III 4. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GATAGAAATCCCAGTGCCTGA 0.557 Melanoma(183;2548 2817 37099 41192) NA 15 85 1.49906e-05 1.6725e-05 0.00245 1 0 SRGAP2 23380 broad.mit.edu 37 1 206611329 206611329 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:206611329C>T uc001hdy.2 + 13 1721 c.1388C>T c.(1387-1389)GCT>GTT p.A463V SRGAP2_uc010prt.1_Missense_Mutation_p.A386V|SRGAP2_uc001hdx.2_Missense_Mutation_p.A463V|SRGAP2_uc010pru.1_Missense_Mutation_p.A386V|SRGAP2_uc010prv.1_Missense_Mutation_p.A387V NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 550 Rho-GAP. axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) GACCCCCTGGCTGGGGACCAG 0.542 NA 56 186 0 0 0.00361 0 0 SRGAP2 23380 broad.mit.edu 37 1 206634713 206634713 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:206634713G>T uc001hdy.2 + 20 3236 c.2903G>T c.(2902-2904)GGT>GTT p.G968V SRGAP2_uc010pru.1_Missense_Mutation_p.G891V NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 1055 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) ACTAGCCCTGGTGTCAACTCA 0.502 NA 70 165 2.0464e-58 3.67739e-58 0.00361 1 0 C1orf116 79098 broad.mit.edu 37 1 207195442 207195442 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:207195442G>T uc001hfd.2 - 4 1926 c.1667C>A c.(1666-1668)TCC>TAC p.S556Y C1orf116_uc009xcb.1_Missense_Mutation_p.S310Y NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 556 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) CAGGCGCTTGGAGCTCTGCTC 0.597 NA 7 54 0.000274275 0.000298005 0.004482 1 0 KCNH1 3756 broad.mit.edu 37 1 211256166 211256166 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:211256166C>A uc001hib.2 - 5 684 c.514G>T c.(514-516)GTG>TTG p.V172L KCNH1_uc001hic.2_Missense_Mutation_p.V172L NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 172 Cytoplasmic (Potential). myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) CCTTTTTGCACGCTTGGAGCC 0.562 NA 130 300 6.47883e-55 1.15084e-54 0.00361 1 0 KCTD3 51133 broad.mit.edu 37 1 215759874 215759874 + Silent SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:215759874G>C uc001hks.2 + 9 957 c.663G>C c.(661-663)ACG>ACC p.T221T KCTD3_uc001hkt.2_Silent_p.T221T|KCTD3_uc010pub.1_Silent_p.T119T|KCTD3_uc009xdn.2_5'UTR NM_016121 NP_057205 Q9Y597 KCTD3_HUMAN potassium channel tetramerisation domain 221 voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity ovary(3) 3 all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13) AAGTGTTTACGAGCCCATATT 0.443 NA 95 407 0 0 0.00361 0 0 USH2A 7399 broad.mit.edu 37 1 216051129 216051129 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:216051129C>T uc001hku.1 - 43 9039 c.8652G>A c.(8650-8652)CAG>CAA p.Q2884Q NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2884 Extracellular (Potential).|Fibronectin type-III 15. 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) CATAAAGCCACTGAGTTCCTG 0.383 NA HNSCC(13;0.011) 131 390 0 0 0.00361 0 0 USH2A 7399 broad.mit.edu 37 1 216143975 216143975 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:216143975C>A uc001hku.1 - 36 7336 c.6949G>T c.(6949-6951)GGC>TGC p.G2317C NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2317 Fibronectin type-III 9.|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) ACCAGTGGGCCCAGAGCACAA 0.453 NA HNSCC(13;0.011) 72 142 9.08522e-28 1.40574e-27 0.00361 1 0 USH2A 7399 broad.mit.edu 37 1 216496873 216496873 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:216496873G>T uc001hku.1 - 8 1880 c.1493C>A c.(1492-1494)ACT>AAT p.T498N USH2A_uc001hkv.2_Missense_Mutation_p.T498N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 498 Laminin N-terminal.|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) GTTAACAGCAGTCTCAGTTGT 0.368 NA HNSCC(13;0.011) 117 318 5.787e-82 1.09265e-81 0.00361 1 0 MARK1 4139 broad.mit.edu 37 1 220752848 220752848 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:220752848G>A uc001hmn.3 + 2 801 c.204G>A c.(202-204)AAG>AAA p.K68K MARK1_uc001hml.2_Silent_p.K68K|MARK1_uc009xdw.2_Silent_p.K68K|MARK1_uc010pun.1_Silent_p.K68K|MARK1_uc001hmm.3_Silent_p.K68K NM_018650 NP_061120 Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 68 ATP (By similarity).|Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(4)|central_nervous_system(2)|skin(2)|stomach(1)|lung(1) 10 GBM - Glioblastoma multiforme(131;0.0407) CAATAGGGAAGGGAAATTTTG 0.433 NA 11 228 0 0 0.003163 0 0 OBSCN 84033 broad.mit.edu 37 1 228523918 228523918 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:228523918C>A uc009xez.1 + 64 16528 c.16484C>A c.(16483-16485)TCA>TAA p.S5495* OBSCN_uc001hsn.2_Nonsense_Mutation_p.S5495*|OBSCN_uc001hsr.1_Nonsense_Mutation_p.S123* NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 5495 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CAAGCCATCTCAGCACAGGGG 0.572 NA 16 49 4.96729e-08 5.80592e-08 0.008871 1 0 LYST 1130 broad.mit.edu 37 1 235973688 235973688 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:235973688T>C uc001hxj.2 - 5 605 c.430A>G c.(430-432)AGA>GGA p.R144G LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R144G NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 144 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) CGCTGTCGTCTGCTTTTTCGA 0.398 NA Chediak-Higashsyndrome 26 276 0 0 0.002445 0 0 NID1 4811 broad.mit.edu 37 1 236195859 236195859 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:236195859G>T uc001hxo.2 - 6 1481 c.1379C>A c.(1378-1380)TCT>TAT p.S460Y NID1_uc009xgd.2_Missense_Mutation_p.S460Y NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 460 Nidogen G2 beta-barrel. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TACTACGTAAGAGTGGAGGTC 0.552 NA 27 63 1.13719e-10 1.39723e-10 0.008361 1 0 NID1 4811 broad.mit.edu 37 1 236201439 236201439 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:236201439C>A uc001hxo.2 - 5 1352 c.1250G>T c.(1249-1251)GGC>GTC p.G417V NID1_uc009xgd.2_Missense_Mutation_p.G417V NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 417 EGF-like 1. cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCCCGTATAGCCAGCGACACA 0.542 NA 30 159 3.11337e-16 4.23482e-16 0.002836 1 0 RYR2 6262 broad.mit.edu 37 1 237729943 237729943 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:237729943G>A uc001hyl.1 + 28 3411 c.3291G>A c.(3289-3291)AAG>AAA p.K1097K NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1097 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. 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) ATGCAGTGAAGGCCGGACGGT 0.557 NA 81 282 0 0 0.00361 0 0 RYR2 6262 broad.mit.edu 37 1 237798280 237798280 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:237798280G>A uc001hyl.1 + 44 6900 c.6780G>A c.(6778-6780)CCG>CCA p.P2260P NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2260 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) TGCGTGAGCCGGATCTAGAAA 0.393 NA 6 69 0 0 0.001984 0 0 RYR2 6262 broad.mit.edu 37 1 237955446 237955446 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:237955446G>T uc001hyl.1 + 94 13725 c.13605G>T c.(13603-13605)ACG>ACT p.T4535T RYR2_uc010pyb.1_5'UTR NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4535 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) AGCTCCCCACGAGAAGTTCAA 0.463 NA 5 57 0.000602214 0.000648446 0.000602 1 0 ZP4 57829 broad.mit.edu 37 1 238051764 238051764 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:238051764C>A uc001hym.2 - 4 447 c.447G>T c.(445-447)CGG>CGT p.R149R LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 149 P-type.|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) GCAGTCTGTCCCGTGCTGGGA 0.473 NSCLC(166;160 2029 11600 18754 19936) NA 83 330 6.50375e-52 1.14212e-51 0.00361 1 0 NLRP3 114548 broad.mit.edu 37 1 247587802 247587802 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247587802G>T uc001icr.2 + 5 1195 c.1057G>T c.(1057-1059)GTG>TTG p.V353L NLRP3_uc001ics.2_Missense_Mutation_p.V353L|NLRP3_uc001icu.2_Missense_Mutation_p.V353L|NLRP3_uc001icw.2_Missense_Mutation_p.V353L|NLRP3_uc001icv.2_Missense_Mutation_p.V353L|NLRP3_uc010pyw.1_Missense_Mutation_p.V351L|NLRP3_uc001ict.1_Missense_Mutation_p.V351L NM_001079821 NP_001073289 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 isoform a 353 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 26 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) CACGAGACCTGTGGCCCTGGA 0.557 NA 35 161 1.3203e-36 2.1605e-36 0.00361 1 0 OR2B11 127623 broad.mit.edu 37 1 247614463 247614463 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247614463C>A uc010pyx.1 - 1 822 c.822G>T c.(820-822)CAG>CAT p.Q274H NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 274 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TAAATTTGCCCTGCTCTTGGG 0.493 NA 94 339 1.21964e-59 2.20269e-59 0.00361 1 0 OR2C3 81472 broad.mit.edu 37 1 247695356 247695356 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247695356C>A uc009xgy.2 - 2 820 c.458G>T c.(457-459)GGT>GTT p.G153V C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 153 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GGTGGTCAGACCCCCCAGCCA 0.562 NA 12 24 1.49906e-05 1.6725e-05 0.00245 1 0 OR2G2 81470 broad.mit.edu 37 1 247752128 247752128 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247752128T>C uc010pyy.1 + 1 467 c.467T>C c.(466-468)ATA>ACA p.I156T NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTCAGTGGAATAGCCACCACC 0.547 NA 201 592 0 0 0.00361 0 0 OR2G3 81469 broad.mit.edu 37 1 247769640 247769640 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247769640C>A uc010pyz.1 + 1 753 c.753C>A c.(751-753)TTC>TTA p.F251L NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 251 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TGATTATATTCTATGGCACCA 0.488 NA 30 157 9.21846e-06 1.04033e-05 0.002836 1 0 OR14A16 284532 broad.mit.edu 37 1 247978554 247978554 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247978554C>A uc001idm.1 - 1 478 c.478G>T c.(478-480)GGC>TGC p.G160C NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 160 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GAGAAGGTGCCAGCTGTGTGC 0.473 Ovarian(112;180 1586 15073 21914 33526) NA 103 513 6.25825e-54 1.10802e-53 0.00361 1 0 OR2W3 343171 broad.mit.edu 37 1 248059311 248059311 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248059311C>G uc001idp.1 + 3 692 c.423C>G c.(421-423)TGC>TGG p.C141W OR2W3_uc010pzb.1_Missense_Mutation_p.C141W NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 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;0.0319) CCAGGCTCTGCCGGGGCTTGG 0.627 NA 27 104 0 0 0.004656 0 0 OR2W3 343171 broad.mit.edu 37 1 248059622 248059622 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248059622T>A uc001idp.1 + 3 1003 c.734T>A c.(733-735)CTC>CAC p.L245H OR2W3_uc010pzb.1_Missense_Mutation_p.L245H NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 245 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 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;0.0319) GGCTCCCATCTCACTGTGGTC 0.512 NA 14 388 0 0 0.00245 0 0 OR2T8 343172 broad.mit.edu 37 1 248084416 248084416 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248084416G>T uc010pzc.1 + 1 97 c.97G>T c.(97-99)GTT>TTT p.V33F NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 33 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCTGAGTATCGTTTTGACCTC 0.483 NA 32 212 1.8453e-21 2.7041e-21 0.002522 1 0 OR2L3 391192 broad.mit.edu 37 1 248224532 248224532 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248224532G>A uc001idx.1 + 1 549 c.549G>A c.(547-549)ATG>ATA p.M183I OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 183 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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) TCCCAGCAATGGTGACTCTGG 0.463 NA 110 702 0 0 0.00361 0 0 OR2M7 391196 broad.mit.edu 37 1 248487614 248487614 + Nonsense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248487614A>T uc010pzk.1 - 1 257 c.257T>A c.(256-258)TTG>TAG p.L86* NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 86 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTGCCAGACAAGTAGTTGAA 0.493 NA 189 628 0 0 0.00361 0 0 OR2M7 391196 broad.mit.edu 37 1 248487866 248487866 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248487866G>T uc010pzk.1 - 1 5 c.5C>A c.(4-6)GCA>GAA p.A2E NM_001004691 NP_001004691 Q8NG81 OR2M7_HUMAN olfactory receptor, family 2, subfamily M, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATTCTCCCATGCCATGATGAA 0.428 NA 101 498 9.84861e-36 1.60188e-35 0.00361 1 0 OR2T1 26696 broad.mit.edu 37 1 248569631 248569631 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248569631C>G uc010pzm.1 + 1 336 c.336C>G c.(334-336)CTC>CTG p.L112L NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 112 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTACTTCCTCCTCAGCCACC 0.438 NA 15 574 0 0 0.00499 0 0 OR2G6 391211 broad.mit.edu 37 1 248685280 248685280 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248685280G>A uc001ien.1 + 1 333 c.333G>A c.(331-333)GAG>GAA p.E111E NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCTCGTCTGAGTGTATTCTCT 0.552 NA 49 543 0 0 0.00361 0 0 OR2T34 127068 broad.mit.edu 37 1 248737445 248737445 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248737445T>A uc001iep.1 - 1 614 c.614A>T c.(613-615)TAC>TTC p.Y205F NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 205 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GCAGCACAGGTACGTGAGCAT 0.527 NA 153 652 0 0 0.00361 0 0 OR2T10 127069 broad.mit.edu 37 1 248756948 248756948 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:248756948C>G uc010pzn.1 - 1 122 c.122G>C c.(121-123)TGG>TCG p.W41S NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGTAATATTCCAAGACACAGC 0.423 NA 67 75 0 0 0.00361 0 0 ZMYND11 10771 broad.mit.edu 37 10 294355 294355 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:294355T>C uc010pzt.1 + 13 1735 c.1307T>C c.(1306-1308)GTG>GCG p.V436A ZMYND11_uc001ifk.2_Missense_Mutation_p.V435A|ZMYND11_uc010pzu.1_Missense_Mutation_p.V436A|ZMYND11_uc010pzv.1_Missense_Mutation_p.V381A|ZMYND11_uc010pzw.1_Missense_Mutation_p.V351A|ZMYND11_uc001ifm.2_Missense_Mutation_p.V382A|ZMYND11_uc010pzx.1_Missense_Mutation_p.V436A|ZMYND11_uc001ifn.2_Missense_Mutation_p.V382A|ZMYND11_uc009xhg.2_Missense_Mutation_p.V419A|ZMYND11_uc009xhh.2_Missense_Mutation_p.V310A|ZMYND11_uc010pzy.1_Missense_Mutation_p.V288A NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform 396 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) AAAGTCTCCGTGTCAACTCAG 0.498 NA 29 93 0 0 0.002096 0 0 DIP2C 22982 broad.mit.edu 37 10 409175 409175 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:409175C>T uc001ifp.2 - 21 2644 c.2554G>A c.(2554-2556)GAA>AAA p.E852K DIP2C_uc009xhi.1_Missense_Mutation_p.E238K|DIP2C_uc010pzz.1_Missense_Mutation_p.E173K NM_014974 NP_055789 Q9Y2E4 DIP2C_HUMAN DIP2 disco-interacting protein 2 homolog C 852 nucleus catalytic activity|transcription factor binding breast(4)|ovary(2)|large_intestine(1) 7 all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235) OV - Ovarian serous cystadenocarcinoma(33;0.136) Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106) CTGTCCTCTTCCGTGGAGTCA 0.607 NA 17 35 0 0 0.008871 0 0 LARP4B 23185 broad.mit.edu 37 10 860901 860901 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:860901G>A uc001ifs.1 - 15 1846 c.1805C>T c.(1804-1806)CCA>CTA p.P602L NM_015155 NP_055970 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 602 nucleotide binding|RNA binding ovary(2)|central_nervous_system(1) 3 TAAATGAGCTGGGGAGGGGGA 0.547 NA 7 80 0 0 0.006214 0 0 ITIH2 3698 broad.mit.edu 37 10 7763676 7763676 + Missense_Mutation SNP C C T rs141514196 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:7763676C>T uc001ijs.2 + 8 965 c.803C>T c.(802-804)GCG>GTG p.A268V NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 268 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 CGGGAGACTGCGGTAGATGGG 0.552 NA 13 96 0 0 0.00499 0 0 ITIH2 3698 broad.mit.edu 37 10 7773794 7773794 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:7773794C>A uc001ijs.2 + 13 1644 c.1482C>A c.(1480-1482)TCC>TCA p.S494S NM_002216 NP_002207 P19823 ITIH2_HUMAN inter-alpha globulin inhibitor H2 polypeptide 494 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(1)|pancreas(1)|skin(1) 3 ACCAGGTCTCCACTCCATTGC 0.373 NA 54 303 6.05568e-20 8.66243e-20 0.00361 1 0 UCMA 221044 broad.mit.edu 37 10 13264144 13264144 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:13264144C>A uc001imd.2 - 5 449 c.376G>T c.(376-378)GGC>TGC p.G126C NM_145314 NP_660357 Q8WVF2 UCMA_HUMAN upper zone of growth plate and cartilage matrix 126 proteinaceous extracellular matrix 0 GGGTGCAGGCCGTCATAGTGC 0.587 NA 16 69 3.32936e-07 3.84568e-07 0.006122 1 0 CUBN 8029 broad.mit.edu 37 10 16873350 16873350 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:16873350G>T uc001ioo.2 - 65 10481 c.10429C>A c.(10429-10431)CCT>ACT p.P3477T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3477 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GAGAAGACAGGGTTTGGCAGC 0.393 NA 107 289 7.53784e-56 1.34338e-55 0.00361 1 0 CUBN 8029 broad.mit.edu 37 10 17169920 17169921 + Nonsense_Mutation DNP GG GG AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:17169920_17169921GG>AA uc001ioo.2 - 3 307_308 c.255_256CC>TT c.(253-258)ATCCAG>ATTTAG p.Q86* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 86 cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTGTTTTTCTGGATCTAATTTT 0.282 NA 9 70 0 0 0.004672 0 0 ZEB1 6935 broad.mit.edu 37 10 31810643 31810643 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:31810643C>T uc001ivs.3 + 7 2443 c.2380C>T c.(2380-2382)CCA>TCA p.P794S ZEB1_uc001ivr.3_Missense_Mutation_p.P576S|ZEB1_uc010qee.1_Missense_Mutation_p.P576S|ZEB1_uc010qef.1_Missense_Mutation_p.P576S|ZEB1_uc009xlj.1_Missense_Mutation_p.P720S|ZEB1_uc010qeg.1_Missense_Mutation_p.P653S|ZEB1_uc009xlk.1_Missense_Mutation_p.P576S|ZEB1_uc001ivt.3_Missense_Mutation_p.P576S|ZEB1_uc001ivu.3_Missense_Mutation_p.P795S|ZEB1_uc001ivv.3_Missense_Mutation_p.P774S|ZEB1_uc010qeh.1_Missense_Mutation_p.P727S|ZEB1_uc009xlo.1_Missense_Mutation_p.P777S|ZEB1_uc009xlp.2_Missense_Mutation_p.P778S NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 794 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) AAATGTAATCCCACCAAGTGC 0.453 Ovarian(40;423 959 14296 36701 49589) NA 113 358 0 0 0.00361 0 0 HNRNPA3P1 10151 broad.mit.edu 37 10 44285232 44285232 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:44285232G>A uc010qfe.1 - 1 634 c.604C>T c.(604-606)CTT>TTT p.L202F NR_002726 SubName: Full=cDNA FLJ52659, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=cDNA, FLJ79333, highly similar to Heterogeneous nuclear ribonucleoprotein A3; SubName: Full=Heterogeneous nuclear ribonucleoprotein A3, isoform CRA_a; 0 TGTTTAGCAAGGGCCTTTTTC 0.388 NA 4 58 0 0 0.001168 0 0 ALOX5 240 broad.mit.edu 37 10 45907644 45907644 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:45907644T>A uc001jce.2 + 4 536 c.437T>A c.(436-438)ATG>AAG p.M146K ALOX5_uc009xmt.2_Missense_Mutation_p.M146K|ALOX5_uc010qfg.1_Missense_Mutation_p.M146K NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 146 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CTCAGATGGATGGAGTGGAAC 0.498 NA 4 74 0 0 0.001168 0 0 PPYR1 5540 broad.mit.edu 37 10 47087209 47087209 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:47087209C>T uc001jee.2 + 3 845 c.426C>T c.(424-426)CTC>CTT p.L142L ANXA8_uc001jed.3_Intron|PPYR1_uc009xna.2_Silent_p.L142L NM_005972 NP_005963 P50391 NPY4R_HUMAN pancreatic polypeptide receptor 1 142 Cytoplasmic (Potential). blood circulation|digestion|feeding behavior integral to plasma membrane ovary(1)|skin(1) 2 GGCATCAGCTCATCATCAACC 0.592 NA 46 371 0 0 0.00361 0 0 FRMPD2 143162 broad.mit.edu 37 10 49444598 49444598 + Splice_Site SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:49444598T>A uc001jgi.2 - 9 1029 c.922_splice c.e9-1 p.F308_splice FRMPD2_uc001jgh.2_Splice_Site_p.F277_splice|FRMPD2_uc001jgj.2_Splice_Site_p.F286_splice NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CCTGGAAAACTGGAGGAAAAC 0.552 NA 11 92 0 0 0.00245 0 0 FRMPD2 143162 broad.mit.edu 37 10 49450216 49450216 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:49450216A>T uc001jgi.2 - 5 662 c.555T>A c.(553-555)GGT>GGA p.G185G FRMPD2_uc001jgh.2_Silent_p.G154G|FRMPD2_uc001jgj.2_Silent_p.G163G NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 185 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) CAGAAATGGTACCCAGAACCA 0.323 NA 6 196 0 0 0.004482 0 0 A1CF 29974 broad.mit.edu 37 10 52580401 52580401 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:52580401C>G uc001jjj.2 - 8 966 c.778G>C c.(778-780)GAG>CAG p.E260Q A1CF_uc010qhn.1_Missense_Mutation_p.E268Q|A1CF_uc001jji.2_Missense_Mutation_p.E260Q|A1CF_uc001jjh.2_Missense_Mutation_p.E268Q|A1CF_uc010qho.1_Missense_Mutation_p.E268Q|A1CF_uc009xov.2_Missense_Mutation_p.E260Q NM_138932 NP_620310 Q9NQ94 A1CF_HUMAN apobec-1 complementation factor isoform 2 260 RRM 3. cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding central_nervous_system(1) 1 TTCACCCTCTCCACAGCACCT 0.388 NA 14 124 0 0 0.007413 0 0 TET1 80312 broad.mit.edu 37 10 70446412 70446412 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:70446412G>T uc001jok.3 + 11 5857 c.5352G>T c.(5350-5352)AAG>AAT p.K1784N NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1784 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TCAAGCGGAAGAATAACTCAA 0.458 NA 30 284 1.47244e-24 2.23035e-24 0.00623 1 0 TET1 80312 broad.mit.edu 37 10 70450858 70450858 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:70450858G>T uc001jok.3 + 12 6203 c.5698G>T c.(5698-5700)GGC>TGC p.G1900C NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1900 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TGATGGCCCTGGCATTTCACA 0.567 NA 16 136 2.35188e-11 2.94326e-11 0.006122 1 0 KIAA1274 27143 broad.mit.edu 37 10 72293678 72293678 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:72293678G>T uc001jrd.3 + 8 1152 c.871G>T c.(871-873)GAG>TAG p.E291* NM_014431 NP_055246 Q9ULE6 PALD_HUMAN KIAA1274 291 ovary(2)|central_nervous_system(1) 3 TCTTTCCCAGGAGACCCCCAG 0.652 NA 5 49 0.000602214 0.000648446 0.000602 1 0 UNC5B 219699 broad.mit.edu 37 10 73047403 73047403 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:73047403G>T uc001jro.2 + 6 1227 c.782G>T c.(781-783)CGC>CTC p.R261L UNC5B_uc001jrp.2_Missense_Mutation_p.R261L NM_170744 NP_734465 Q8IZJ1 UNC5B_HUMAN unc-5 homolog B precursor 261 TSP type-1 1.|Extracellular (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane ovary(2)|lung(1) 3 TGCTCCAACCGCTGTGGCCGA 0.667 NA 9 35 5.4927e-09 6.56935e-09 0.004482 1 0 USP54 159195 broad.mit.edu 37 10 75290091 75290091 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:75290091C>T uc001juo.2 - 12 1655 c.1638G>A c.(1636-1638)AGG>AGA p.R546R USP54_uc001juk.2_5'UTR|USP54_uc001jul.2_5'UTR|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA|USP54_uc001jup.2_Silent_p.R546R|USP54_uc010qkl.1_Silent_p.R546R NM_152586 NP_689799 Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 546 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(3)|lung(2)|kidney(1) 6 Prostate(51;0.0112) AAGGCAGGGTCCTAGGAGGTT 0.507 Colon(195;880 2046 8854 25025 38456) NA 20 95 0 0 0.002299 0 0 MYST4 23522 broad.mit.edu 37 10 76736089 76736089 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:76736089G>T uc001jwn.1 + 8 2486 c.1993_splice c.e8+1 p.D665_splice MYST4_uc001jwm.1_Intron|MYST4_uc001jwo.1_Intron|MYST4_uc001jwp.1_Intron NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CAGGATGATGGTAAGCAAAAG 0.473 NA T CREBBP AML 20 86 2.41591e-17 3.34082e-17 0.004656 1 0 LRIT2 340745 broad.mit.edu 37 10 85982088 85982089 + Missense_Mutation DNP CC CC AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:85982088_85982089CC>AA uc001kcy.2 - 3 1248_1249 c.1240_1241GG>TT c.(1240-1242)GGA>TTA p.G414L LRIT2_uc010qmc.1_Missense_Mutation_p.G424L NM_001017924 NP_001017924 A6NDA9 LRIT2_HUMAN leucine rich repeat containing 22 precursor 414 Fibronectin type-III. integral to membrane ovary(2) 2 AGTATTGATTCCGGGGCCAATG 0.554 NA 66 85 0 0 0.004672 0 0 GRID1 2894 broad.mit.edu 37 10 87628799 87628799 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:87628799C>A uc001kdl.1 - 6 1020 c.919G>T c.(919-921)GAC>TAC p.D307Y GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 307 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) TCCTGGGGGTCGCAGAGCAGG 0.582 NA Multiple Myeloma(13;0.14) 77 113 4.02937e-33 6.43745e-33 0.00361 1 0 LIPK 643414 broad.mit.edu 37 10 90486557 90486557 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:90486557G>C uc010qmv.1 + 2 111 c.111G>C c.(109-111)CAG>CAC p.Q37H NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN lipase, family member K precursor 37 lipid catabolic process extracellular region hydrolase activity ovary(2) 2 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) TTTAGAGCCAGATTATTTCTT 0.289 NA 14 15 0 0 0.00499 0 0 LIPK 643414 broad.mit.edu 37 10 90499787 90499787 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:90499787C>T uc010qmv.1 + 7 851 c.851C>T c.(850-852)GCG>GTG p.A284V NM_001080518 NP_001073987 Q5VXJ0 LIPK_HUMAN lipase, family member K precursor 284 lipid catabolic process extracellular region hydrolase activity ovary(2) 2 Colorectal(252;0.0381) Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05) CACAATCCTGCGGGAACATCT 0.423 NA 78 182 0 0 0.00361 0 0 PDE6C 5146 broad.mit.edu 37 10 95425130 95425130 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:95425130A>T uc001kiu.3 + 22 2670 c.2532A>T c.(2530-2532)TCA>TCT p.S844S NM_006204 NP_006195 P51160 PDE6C_HUMAN phosphodiesterase 6C 844 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding ovary(2)|kidney(1)|skin(1) 4 Colorectal(252;0.123) CTGAAGATTCAGGAGGTGGTG 0.318 NA 58 163 0 0 0.00361 0 0 PLCE1 51196 broad.mit.edu 37 10 96005857 96005858 + Missense_Mutation DNP CA CA AG TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:96005857_96005858CA>AG uc001kjk.2 + 8 3209_3210 c.2575_2576CA>AG c.(2575-2577)CAG>AGG p.Q859R PLCE1_uc010qnx.1_Missense_Mutation_p.Q859R|PLCE1_uc001kjm.2_Missense_Mutation_p.Q551R NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 859 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) CGATGTGCACCAGTTCCTGCTG 0.584 NA 78 88 0 0 0.004672 0 0 C10orf12 26148 broad.mit.edu 37 10 98743749 98743749 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:98743749T>A uc001kmv.2 + 1 2709 c.2602T>A c.(2602-2604)TTT>ATT p.F868I NM_015652 NP_056467 Q8N655 CJ012_HUMAN hypothetical protein LOC26148 868 skin(2) 2 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TATGACAAACTTTAAATTATC 0.398 NA 4 123 0 0 0.009096 0 0 SLIT1 6585 broad.mit.edu 37 10 98802742 98802742 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:98802742C>T uc001kmw.2 - 20 2332 c.2080G>A c.(2080-2082)GGG>AGG p.G694R SLIT1_uc009xvh.1_Missense_Mutation_p.G704R NM_003061 NP_003052 O75093 SLIT1_HUMAN slit homolog 1 precursor 694 LRRCT 3. axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis cytoplasm|extracellular space calcium ion binding|Roundabout binding ovary(4) 4 Colorectal(252;0.162) Epithelial(162;2.02e-08)|all cancers(201;1.5e-06) CGCGGGTTCCCCGTCACGATC 0.612 NA 17 39 0 0 0.00499 0 0 LOXL4 84171 broad.mit.edu 37 10 100017495 100017495 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:100017495G>T uc001kpa.1 - 8 1323 c.1172C>A c.(1171-1173)CCT>CAT p.P391H NM_032211 NP_115587 Q96JB6 LOXL4_HUMAN lysyl oxidase-like 4 precursor 391 SRCR 3. extracellular space|membrane copper ion binding|protein binding|scavenger receptor activity ovary(3)|breast(1)|skin(1) 5 Colorectal(252;0.234) Epithelial(162;2.14e-11)|all cancers(201;2.49e-09) TTCCAGGGCAGGGCAGTCGCT 0.582 NA 27 47 3.09479e-21 4.49848e-21 0.006999 1 0 LZTS2 84445 broad.mit.edu 37 10 102763886 102763886 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:102763886G>T uc001ksj.2 + 3 1100 c.1031G>T c.(1030-1032)CGG>CTG p.R344L LZTS2_uc010qpw.1_Missense_Mutation_p.R344L|LZTS2_uc001ksk.2_Missense_Mutation_p.R344L|LZTS2_uc001ksl.2_Missense_Mutation_p.R344L|LZTS2_uc001ksm.2_RNA NM_032429 NP_115805 Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 344 Potential. cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center ovary(2)|large_intestine(1)|breast(1) 4 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) CAGCAGCTGCGGGACAGTCTG 0.622 Esophageal Squamous(8;38 437 13604 19902 37640) NA 11 22 6.31663e-08 7.35918e-08 0.003163 1 0 C10orf76 79591 broad.mit.edu 37 10 103773753 103773753 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:103773753G>C uc009xwy.1 - 9 800 c.698C>G c.(697-699)TCT>TGT p.S233C NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 233 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) ATCCACGATAGACAGCTTCAC 0.378 NA 6 420 0 0 0.004482 0 0 ELOVL3 83401 broad.mit.edu 37 10 103988649 103988649 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:103988649A>T uc001kut.2 + 4 616 c.453A>T c.(451-453)ACA>ACT p.T151T NM_152310 NP_689523 Q9HB03 ELOV3_HUMAN elongation of very long chain fatty acids like 151 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane fatty acid elongase activity|protein binding ovary(2) 2 Colorectal(252;0.207) Epithelial(162;4.47e-08)|all cancers(201;7.96e-07) ACCACAGCACAGTGCTCGTGT 0.498 NA 37 54 0 0 0.003214 0 0 PSD 5662 broad.mit.edu 37 10 104173662 104173662 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:104173662C>G uc001kvg.1 - 5 1944 c.1417G>C c.(1417-1419)GCT>CCT p.A473P PSD_uc001kvh.1_Missense_Mutation_p.A94P|PSD_uc009xxd.1_Missense_Mutation_p.A473P NM_002779 NP_002770 A5PKW4 PSD1_HUMAN pleckstrin and Sec7 domain containing 473 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|urinary_tract(1) 3 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) CCATCAGCAGCAGAGCTGGTA 0.662 NA 8 13 0 0 0.001855 0 0 CALHM2 51063 broad.mit.edu 37 10 105209690 105209690 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:105209690G>T uc001kwz.2 - 2 395 c.9C>A c.(7-9)GCC>GCA p.A3A CALHM2_uc001kxa.2_Silent_p.A3A|CALHM2_uc001kxc.2_Silent_p.A3A|CALHM2_uc001kxb.2_Silent_p.A3A|CALHM2_uc001kxd.1_Silent_p.A3A NM_015916 NP_057000 Q9HA72 CAHM2_HUMAN calcium homeostasis modulator 2 3 integral to membrane skin(1) 1 CTGCGATCAGGGCTGCCATGG 0.587 NA 19 30 6.32553e-13 8.18152e-13 0.004656 1 0 SORCS3 22986 broad.mit.edu 37 10 106802840 106802840 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:106802840C>G uc001kyi.1 + 5 1209 c.982C>G c.(982-984)CGG>GGG p.R328G NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 328 BNR 3.|Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CTTTGGAAGACGGTGGCAACT 0.438 NSCLC(116;1497 1690 7108 13108 14106) NA 187 471 0 0 0.00361 0 0 TCF7L2 6934 broad.mit.edu 37 10 114912190 114912190 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:114912190G>T uc001lae.3 + 11 1767 c.1260G>T c.(1258-1260)CGG>CGT p.R420R TCF7L2_uc001lac.3_Silent_p.R397R|TCF7L2_uc010qrk.1_Silent_p.R397R|TCF7L2_uc010qrl.1_Silent_p.R397R|TCF7L2_uc010qrm.1_Silent_p.R420R|TCF7L2_uc010qrn.1_Silent_p.R363R|TCF7L2_uc001lad.3_Silent_p.R393R|TCF7L2_uc001lag.3_Silent_p.R444R|TCF7L2_uc001laf.3_Silent_p.R397R|TCF7L2_uc010qro.1_Silent_p.R397R|TCF7L2_uc001lah.2_Silent_p.R402R|TCF7L2_uc010qrp.1_Silent_p.R397R|TCF7L2_uc010qrq.1_Silent_p.R393R|TCF7L2_uc010qrr.1_Silent_p.R335R|TCF7L2_uc010qrs.1_Silent_p.R291R|TCF7L2_uc010qrt.1_Silent_p.R291R|TCF7L2_uc010qru.1_Silent_p.R319R|TCF7L2_uc010qrv.1_Silent_p.R237R|TCF7L2_uc010qrw.1_Silent_p.R124R|TCF7L2_uc010qrx.1_Silent_p.R277R NM_001146274 NP_001139746 Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 isoform 1 420 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding large_intestine(3)|ovary(1) 4 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) GGTCCGCGCGGGATAACTATG 0.522 NA 6 320 8.12818e-05 8.93935e-05 0.001984 1 0 C10orf82 143379 broad.mit.edu 37 10 118425181 118425181 + Missense_Mutation SNP G G T rs138140121 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:118425181G>T uc001lcr.2 - 3 267 c.212C>A c.(211-213)TCC>TAC p.S71Y C10orf82_uc001lcs.1_Missense_Mutation_p.S71Y NM_144661 NP_653262 Q8WW14 CJ082_HUMAN hypothetical protein LOC143379 71 0 all cancers(201;0.0143) CGTCTCCTCGGAGTTGACAGG 0.567 NA 18 40 6.44725e-10 7.83243e-10 0.002299 1 0 KCNK18 338567 broad.mit.edu 37 10 118960761 118960761 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:118960761C>T uc010qsr.1 + 2 315 c.315C>T c.(313-315)AGC>AGT p.S105S NM_181840 NP_862823 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 105 integral to membrane|plasma membrane upper_aerodigestive_tract(1) 1 Colorectal(252;0.19) all cancers(201;0.0211) CCTTCCTGAGCTCGCTCTTTT 0.557 NA 55 74 0 0 0.00361 0 0 ADAM12 8038 broad.mit.edu 37 10 127753557 127753557 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:127753557C>A uc001ljk.2 - 14 1849 c.1436G>T c.(1435-1437)GGA>GTA p.G479V ADAM12_uc010qul.1_Missense_Mutation_p.G430V|ADAM12_uc001ljm.2_Missense_Mutation_p.G479V|ADAM12_uc001ljn.2_Missense_Mutation_p.G476V|ADAM12_uc001ljl.3_Missense_Mutation_p.G476V NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 479 Extracellular (Potential).|Disintegrin. G -> E (in a breast cancer sample; somatic mutation). cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding p.G479E(1) breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) GCACGCTGTTCCTGCAGGCTT 0.607 NA 9 25 0.000673444 0.000722264 0.008291 1 0 GLRX3 10539 broad.mit.edu 37 10 131958334 131958334 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:131958334G>T uc001lkm.1 + 3 298 c.276_splice c.e3+1 p.K92_splice GLRX3_uc001lkn.1_Splice_Site_p.K92_splice|GLRX3_uc001lko.2_Splice_Site NM_006541 NP_006532 O76003 GLRX3_HUMAN glutaredoxin 3 cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity 0 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) GTTTTTCAAGGTAAGGATAAA 0.368 NA 56 117 1.28914e-47 2.23838e-47 0.00361 1 0 KRTAP5-5 439915 broad.mit.edu 37 11 1651332 1651332 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:1651332G>T uc001lty.2 + 1 300 c.262G>T c.(262-264)GGC>TGC p.G88C NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 88 8 X 4 AA repeats of C-C-X-P. keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGGCAAAGGGGGCTGTGGCTC 0.577 NA 8 107 5.50884e-06 6.22337e-06 0.001368 1 0 STIM1 6786 broad.mit.edu 37 11 4104157 4104157 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:4104157C>T uc001lyv.2 + 9 1751 c.1183C>T c.(1183-1185)CAC>TAC p.H395Y STIM1_uc009yef.2_Missense_Mutation_p.H395Y|STIM1_uc009yeg.2_Missense_Mutation_p.H222Y NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 395 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TGGCACCTTCCACGTGGCCCA 0.433 NA 74 230 0 0 0.00361 0 0 OR52B4 143496 broad.mit.edu 37 11 4389399 4389399 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:4389399C>A uc010qye.1 - 1 127 c.127G>T c.(127-129)GGG>TGG p.G43W NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) AGGCTGTTCCCAAGAAGGGCG 0.522 NA 36 294 2.05212e-20 2.94719e-20 0.005524 1 0 OR52K1 390036 broad.mit.edu 37 11 4510989 4510989 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:4510989C>G uc001lza.1 + 1 859 c.859C>G c.(859-861)CCC>GCC p.P287A NM_001005171 NP_001005171 Q8NGK4 O52K1_HUMAN olfactory receptor, family 52, subfamily K, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192) CCTTTTCCCACCCATGGTCAA 0.463 NA 126 522 0 0 0.00361 0 0 OR51D1 390038 broad.mit.edu 37 11 4661635 4661635 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:4661635C>G uc010qyk.1 + 1 615 c.615C>G c.(613-615)ACC>ACG p.T205T NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 205 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) GTACTGACACCAGGGTCAATG 0.468 NA 220 506 0 0 0.00361 0 0 OR51Q1 390061 broad.mit.edu 37 11 5444315 5444315 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:5444315T>A uc010qzd.1 + 1 885 c.885T>A c.(883-885)AGT>AGA p.S295R HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 295 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCATTTACAGTGTAAAGAACA 0.428 NA 23 162 0 0 0.003954 0 0 NLRP14 338323 broad.mit.edu 37 11 7092508 7092508 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:7092508A>T uc001mfb.1 + 12 3574 c.3251A>T c.(3250-3252)GAA>GTA p.E1084V NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 1084 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) TATCATAATGAAGAAGATGTG 0.338 NA 9 139 0 0 0.008291 0 0 INSC 387755 broad.mit.edu 37 11 15243085 15243085 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:15243085G>T uc001mly.2 + 8 1069 c.1023G>T c.(1021-1023)CGG>CGT p.R341R INSC_uc001mlz.2_Silent_p.R294R|INSC_uc001mma.2_Silent_p.R294R|INSC_uc010rcs.1_Silent_p.R329R|INSC_uc001mmb.2_Silent_p.R294R|INSC_uc001mmc.2_Silent_p.R252R NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 341 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 AGGCCACACGGGCTGAGGCTG 0.637 NA 19 57 2.97696e-44 5.11147e-44 0.00361 1 0 MRGPRX3 117195 broad.mit.edu 37 11 18159297 18159297 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:18159297G>A uc001mnu.2 + 3 909 c.548G>A c.(547-549)TGG>TAG p.W183* NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 183 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 ACAATCGCGTGGCTGGTTTTT 0.512 NA 20 173 0 0 0.002299 0 0 PTPN5 84867 broad.mit.edu 37 11 18754824 18754824 + Silent SNP C C A rs116891792 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:18754824C>A uc001mpd.2 - 11 1607 c.1176G>T c.(1174-1176)ACG>ACT p.T392T PTPN5_uc001mpb.2_Silent_p.T360T|PTPN5_uc001mpc.2_Silent_p.T392T|PTPN5_uc001mpe.2_Silent_p.T360T|PTPN5_uc010rdj.1_Silent_p.T336T|PTPN5_uc001mpf.2_Silent_p.T368T|PTPN5_uc010rdk.1_Silent_p.T337T NM_006906 NP_008837 P54829 PTN5_HUMAN protein-tyrosine-phosphatase non-receptor 5 392 Tyrosine-protein phosphatase. integral to membrane phosphotyrosine binding|protein tyrosine phosphatase activity ovary(2) 2 CAATGATGGGCGTGTGCTCCT 0.527 NA 13 92 1.02788e-11 1.29233e-11 0.00499 1 0 SLC6A5 9152 broad.mit.edu 37 11 20628585 20628585 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:20628585G>T uc001mqd.2 + 4 985 c.712G>T c.(712-714)GCT>TCT p.A238S SLC6A5_uc009yic.2_Missense_Mutation_p.A3S NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 238 Helical; Name=2; (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) GATGATGCTGGCTCTGGCTGG 0.567 NA 41 66 8.30282e-39 1.37955e-38 0.00361 1 0 GAS2 2620 broad.mit.edu 37 11 22707259 22707259 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:22707259G>T uc009yie.2 + 3 497 c.191G>T c.(190-192)GGT>GTT p.G64V GAS2_uc001mqm.2_Missense_Mutation_p.G64V|GAS2_uc001mqn.2_RNA|GAS2_uc001mqo.2_Missense_Mutation_p.G64V NM_001143830 NP_001137302 O43903 GAS2_HUMAN growth arrest-specific 2 64 CH. cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape actin filament|cytosol|membrane ovary(1)|skin(1) 2 TTGGACAATGGTGCCTTGCTC 0.383 NA 25 149 1.2476e-16 1.71426e-16 0.00632 1 0 KCNA4 3739 broad.mit.edu 37 11 30032330 30032330 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:30032330C>A uc001msk.2 - 2 3048 c.1896G>T c.(1894-1896)AAG>AAT p.K632N NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 632 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TGTCATCCCCCTTTCCCTGAC 0.483 NA 58 147 7.48145e-19 1.05897e-18 0.00361 1 0 DEPDC7 91614 broad.mit.edu 37 11 33054339 33054339 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:33054339G>A uc001mub.2 + 7 1355 c.1263G>A c.(1261-1263)AAG>AAA p.K421K DEPDC7_uc001muc.2_Silent_p.K412K NM_001077242 NP_001070710 Q96QD5 DEPD7_HUMAN novel 58.3 KDA protein isoform 1 421 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|skin(1) 2 ATGTTTTTAAGGTAAAATTGT 0.294 NA 18 88 0 0 0.00333 0 0 C11orf41 25758 broad.mit.edu 37 11 33565835 33565835 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:33565835C>A uc001mup.3 + 1 1959 c.1835C>A c.(1834-1836)ACC>AAC p.T612N C11orf41_uc001mun.1_Missense_Mutation_p.T612N NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 612 integral to membrane ovary(2) 2 TTTCCCAGGACCTCCTCCAGA 0.502 NA 26 388 7.26314e-15 9.58948e-15 0.007291 1 0 RAG1 5896 broad.mit.edu 37 11 36597537 36597537 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:36597537G>T uc001mwu.3 + 2 2807 c.2683G>T c.(2683-2685)GTA>TTA p.V895L RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 895 histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GATGAAACCAGTATGGCGATC 0.483 Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363) NA Familial_Hemophagocytic_Lymphohistiocytosis 47 521 2.84144e-21 4.13578e-21 0.00361 1 0 EXT2 2132 broad.mit.edu 37 11 44228501 44228502 + Missense_Mutation DNP GG GG TT TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:44228501_44228502GG>TT uc001mxz.2 + 10 1988_1989 c.1654_1655GG>TT c.(1654-1656)GGT>TTT p.G552F EXT2_uc010rfo.1_Missense_Mutation_p.G580F|EXT2_uc001mxy.2_Missense_Mutation_p.G565F|EXT2_uc009ykt.2_Missense_Mutation_p.G562F|EXT2_uc001mya.2_Missense_Mutation_p.G585F NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 552 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 GCTGCAATTTGGTTATGAGGTA 0.351 NA Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 71 319 0 0 0.004672 0 0 OR4B1 119765 broad.mit.edu 37 11 48238932 48238932 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:48238932T>C uc010rhs.1 + 1 571 c.571T>C c.(571-573)TTC>CTC p.F191L NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 191 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 CACTGACACCTTCATGGAGGG 0.453 NA 19 572 0 0 0.001882 0 0 OR4A15 81328 broad.mit.edu 37 11 55135664 55135664 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:55135664C>A uc010rif.1 + 1 305 c.305C>A c.(304-306)TCT>TAT p.S102Y NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 102 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ACCGTCTATTCTACTGCATTT 0.413 NA 132 459 1.38722e-55 2.4682e-55 0.00361 1 0 OR5D14 219436 broad.mit.edu 37 11 55563649 55563649 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:55563649C>T uc010rim.1 + 1 618 c.618C>T c.(616-618)ACC>ACT p.T206T NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) GCTTCGCCACCTTCAATGAGA 0.433 NA 27 323 0 0 0.002096 0 0 OR8J1 219477 broad.mit.edu 37 11 56128272 56128272 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:56128272C>A uc010rjh.1 + 1 550 c.550C>A c.(550-552)CTG>ATG p.L184M NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TAATGTTCCTCTGTTAGCATT 0.333 NA 53 158 2.93687e-30 4.65077e-30 0.00361 1 0 OR9G4 283189 broad.mit.edu 37 11 56510307 56510307 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:56510307T>C uc010rjo.1 - 1 981 c.981A>G c.(979-981)ACA>ACG p.T327T NM_001005284 NP_001005284 Q8NGQ1 OR9G4_HUMAN olfactory receptor, family 9, subfamily G, 327 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 ATAACCTTCATGTTTGTGGTT 0.363 NA 79 275 0 0 0.00361 0 0 OR4D6 219983 broad.mit.edu 37 11 59224639 59224639 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:59224639T>C uc010rku.1 + 1 206 c.206T>C c.(205-207)CTG>CCG p.L69P NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN olfactory receptor, family 4, subfamily D, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAATCAGTCCTGGACATCGTT 0.463 NA 38 163 0 0 0.00623 0 0 ZP1 22917 broad.mit.edu 37 11 60636728 60636728 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:60636728G>T uc001nqd.2 + 2 327 c.307G>T c.(307-309)GTG>TTG p.V103L ZP1_uc001nqe.2_5'Flank NM_207341 NP_997224 P60852 ZP1_HUMAN zona pellucida glycoprotein 1 precursor 103 Extracellular (Potential). single fertilization integral to membrane|plasma membrane|proteinaceous extracellular matrix 0 AGGCTGCCACGTGCTGGAGAA 0.572 NA 4 17 0.00116845 0.00123961 0.001168 1 0 CYBASC3 220002 broad.mit.edu 37 11 61121427 61121427 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:61121427C>G uc001nrf.3 - 2 398 c.222G>C c.(220-222)GGG>GGC p.G74G CYBASC3_uc010rlh.1_Silent_p.G91G|CYBASC3_uc001nrg.2_Silent_p.G74G|CYBASC3_uc009ynn.2_Intron|CYBASC3_uc001nrh.2_Silent_p.G74G|CYBASC3_uc001nri.2_RNA|CYBASC3_uc009yno.2_Silent_p.G74G NM_001161452 NP_001154924 Q8NBI2 CYAC3_HUMAN cytochrome b, ascorbate dependent 3 isoform 2 74 Cytochrome b561. electron transport chain|transport integral to membrane|late endosome membrane|lysosomal membrane metal ion binding|oxidoreductase activity 0 GCAGTTTGGGCCCCACCCACG 0.607 NA 13 53 0 0 0.00499 0 0 GANAB 23193 broad.mit.edu 37 11 62398602 62398602 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:62398602C>A uc001nub.2 - 10 1083 c.1050G>T c.(1048-1050)CAG>CAT p.Q350H GANAB_uc001nua.2_Missense_Mutation_p.Q372H|GANAB_uc001nuc.2_Missense_Mutation_p.Q253H|GANAB_uc010rma.1_Missense_Mutation_p.Q258H|GANAB_uc010rmb.1_Missense_Mutation_p.Q236H NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 350 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 GAACATCTGTCTGTGGGGTCT 0.547 Melanoma(23;1005 1074 15747 18937) NA 110 323 1.22493e-33 1.96864e-33 0.00361 1 0 NXF1 10482 broad.mit.edu 37 11 62569274 62569274 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:62569274G>A uc001nvf.1 - 6 712 c.576C>T c.(574-576)AAC>AAT p.N192N NXF1_uc001nvg.1_Silent_p.N192N|NXF1_uc009yog.1_Silent_p.N235N|NXF1_uc010rmh.1_Silent_p.N55N NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 192 Interaction with THOC4.|RRM. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 GAGCAGAAGAGTTGATGATGA 0.488 NA 40 224 0 0 0.002852 0 0 SLC22A6 9356 broad.mit.edu 37 11 62749428 62749428 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:62749428T>A uc001nwk.2 - 4 990 c.683A>T c.(682-684)TAT>TTT p.Y228F SLC22A6_uc001nwl.2_Missense_Mutation_p.Y228F|SLC22A6_uc001nwj.2_Missense_Mutation_p.Y228F|SLC22A6_uc001nwm.2_Missense_Mutation_p.Y228F NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN solute carrier family 22 member 6 isoform a 228 Helical; (Potential). alpha-ketoglutarate transport basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|protein binding 0 GCTGTAGACATAGCCAATCAA 0.592 NA 17 68 0 0 0.007413 0 0 PACS1 55690 broad.mit.edu 37 11 66001697 66001697 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:66001697G>A uc001oha.1 + 17 2222 c.2088G>A c.(2086-2088)TCG>TCA p.S696S PACS1_uc010rou.1_Silent_p.S232S NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 696 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 TCAGTCGCTCGGAGCCACCAG 0.567 NA 22 136 0 0 0.00278 0 0 SLCO2B1 11309 broad.mit.edu 37 11 74899193 74899193 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:74899193C>A uc001owb.2 + 8 1372 c.985C>A c.(985-987)CCC>ACC p.P329T SLCO2B1_uc010rrq.1_Missense_Mutation_p.P74T|SLCO2B1_uc010rrr.1_Missense_Mutation_p.P185T|SLCO2B1_uc010rrs.1_Missense_Mutation_p.P213T|SLCO2B1_uc001owc.2_Missense_Mutation_p.P102T|SLCO2B1_uc001owd.2_Missense_Mutation_p.P307T NM_007256 NP_009187 O94956 SO2B1_HUMAN solute carrier organic anion transporter family, 329 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane sodium-independent organic anion transmembrane transporter activity ovary(1)|breast(1) 2 Ergoloid mesylate(DB01049) CAAGGACTCTCCCTCTAAGCA 0.557 NA 59 77 4.13886e-29 6.48762e-29 0.00361 1 0 ODZ4 26011 broad.mit.edu 37 11 78468036 78468036 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:78468036C>A uc001ozl.3 - 19 3033 c.2570G>T c.(2569-2571)TGC>TTC p.C857F NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 857 Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CTGGAGGCAGCAGTCAGGGTC 0.537 NA 20 23 4.72057e-08 5.52353e-08 0.003954 1 0 SYTL2 54843 broad.mit.edu 37 11 85459316 85459316 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:85459316T>A uc010rth.1 - 2 528 c.252A>T c.(250-252)GCA>GCT p.A84A SYTL2_uc010rtg.1_Silent_p.A84A|SYTL2_uc010rti.1_Silent_p.A84A|SYTL2_uc010rtj.1_Silent_p.A36A|SYTL2_uc001pbf.3_Silent_p.A84A NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 84 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TCAACTCACCTGCTATCTGGG 0.468 NA 120 233 0 0 0.00361 0 0 FAT3 120114 broad.mit.edu 37 11 92531039 92531039 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:92531039A>T uc001pdj.3 + 9 4877 c.4860A>T c.(4858-4860)CTA>CTT p.L1620L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1620 Cadherin 15.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AACCGGTCCTAGGCATCATCA 0.428 NA TCGA Ovarian(4;0.039) 136 253 0 0 0.00361 0 0 HEPHL1 341208 broad.mit.edu 37 11 93821930 93821930 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:93821930G>C uc001pep.2 + 12 2247 c.2090G>C c.(2089-2091)AGG>ACG p.R697T uc001pen.1_Intron NM_001098672 NP_001092142 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 precursor 697 Plastocyanin-like 4.|Extracellular (Potential). R -> G (in Ref. 3; CAE46009). copper ion transport integral to membrane copper ion binding|oxidoreductase activity ovary(3) 3 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) GGTATTTTTAGGGTGTTTTGT 0.488 NA 4 82 0 0 0.001168 0 0 MAML2 84441 broad.mit.edu 37 11 95713012 95713012 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:95713012C>T uc001pfw.1 - 5 3856 c.2571G>A c.(2569-2571)ATG>ATA p.M857I NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 857 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.M857V(1) CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) ATAATGATGGCATTCTTGTCC 0.413 NA T MECT1|CRTC3 salivary gland mucoepidermoid 14 212 0 0 0.004007 0 0 KIAA1377 57562 broad.mit.edu 37 11 101786030 101786030 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:101786030G>T uc001pgm.2 + 1 285 c.15G>T c.(13-15)AGG>AGT p.R5S ANGPTL5_uc001pgl.2_Intron NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 5 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) TGGCGGGGAGGCCCGGAACCC 0.701 NA 13 11 7.07596e-05 7.798e-05 0.006122 1 0 MMP10 4319 broad.mit.edu 37 11 102643716 102643716 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:102643716C>A uc001phg.1 - 8 1110 c.1088G>T c.(1087-1089)AGA>ATA p.R363I NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 363 Hemopexin-like 2. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) CTCATTTCCTCTGATGGCCCA 0.368 NA 25 276 3.00307e-07 3.4725e-07 0.008361 1 0 GRIA4 2893 broad.mit.edu 37 11 105804494 105804494 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:105804494C>A uc001pix.2 + 14 2539 c.2093C>A c.(2092-2094)TCA>TAA p.S698* GRIA4_uc001piw.2_Nonsense_Mutation_p.S698*|GRIA4_uc010rvm.1_RNA|GRIA4_uc009yxl.1_RNA NM_000829 NP_000820 P48058 GRIA4_HUMAN glutamate receptor, ionotrophic, AMPA 4 isoform 698 Extracellular (Potential). glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) TACATGCGATCAGCAGAGCCA 0.408 NA 7 46 5.18039e-06 5.86459e-06 0.00308 1 0 NNMT 4837 broad.mit.edu 37 11 114182861 114182861 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:114182861C>T uc001por.1 + 5 721 c.457C>T c.(457-459)CCC>TCC p.P153S NNMT_uc001pos.1_Missense_Mutation_p.P153S NM_006169 NP_006160 P40261 NNMT_HUMAN nicotinamide N-methyltransferase 153 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity ovary(1) 1 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) GGGGGCCGTCCCCTTACCCCC 0.622 NA 6 115 0 0 0.001984 0 0 NNMT 4837 broad.mit.edu 37 11 114183054 114183054 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:114183054G>T uc001por.1 + 5 914 c.650G>T c.(649-651)GGC>GTC p.G217V NNMT_uc001pos.1_Missense_Mutation_p.G217V NM_006169 NP_006160 P40261 NNMT_HUMAN nicotinamide N-methyltransferase 217 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity ovary(1) 1 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) CTCCCCCTGGGCCGGGAGGCA 0.547 NA 8 72 0.000673444 0.000722264 0.008291 1 0 RBM7 10179 broad.mit.edu 37 11 114276519 114276519 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:114276519G>T uc001pov.2 + 4 446 c.436G>T c.(436-438)GTG>TTG p.V146L RBM7_uc001pow.2_Missense_Mutation_p.V147L|RBM7_uc001pox.2_Missense_Mutation_p.V26L NM_016090 NP_057174 Q9Y580 RBM7_HUMAN RNA binding motif protein 7 146 meiosis nucleotide binding|protein binding|RNA binding ovary(2) 2 all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104) BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348) GAGACAAGCAGTGGTAGGTTG 0.323 NA 71 115 2.15109e-50 3.75918e-50 0.00361 1 0 DSCAML1 57453 broad.mit.edu 37 11 117387251 117387251 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:117387251C>A uc001prh.1 - 8 1896 c.1894G>T c.(1894-1896)GAG>TAG p.E632* NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 572 Extracellular (Potential).|Ig-like C2-type 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CACAGGTACTCCCCCTCATCC 0.612 NA 12 19 4.3838e-07 5.05823e-07 0.001855 1 0 OR4D5 219875 broad.mit.edu 37 11 123810656 123810656 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:123810656G>T uc001pzk.1 + 1 333 c.333G>T c.(331-333)AAG>AAT p.K111N NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 111 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GAGGCATCAAGATCTTCCTGC 0.498 NA 155 239 4.71032e-111 9.05186e-111 0.00361 1 0 OR10S1 219873 broad.mit.edu 37 11 123848123 123848123 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:123848123G>T uc001pzm.1 - 1 276 c.276C>A c.(274-276)CCC>CCA p.P92P NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P92L(1) ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CCATGACCTTGGGCACTGTCA 0.547 NA 16 275 3.62473e-10 4.41343e-10 0.001882 1 0 VWA5A 4013 broad.mit.edu 37 11 124007382 124007382 + Splice_Site SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:124007382G>C uc001pzu.2 + 14 1834 c.1625_splice c.e14+1 p.N542_splice VWA5A_uc001pzt.2_Splice_Site_p.N542_splice NM_001130142 NP_001123614 O00534 VMA5A_HUMAN BCSC-1 isoform 1 upper_aerodigestive_tract(1)|ovary(1) 2 CTGATGTCAAGTGAGAATTCA 0.254 NA 30 306 0 0 0.00623 0 0 OR8B12 219858 broad.mit.edu 37 11 124413479 124413479 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:124413479G>T uc010sam.1 - 1 72 c.72C>A c.(70-72)ATC>ATA p.I24I NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) AGAAGAGGGGGATCCGCAGTC 0.547 NA 124 173 2.42353e-96 4.64081e-96 0.00361 1 0 PKNOX2 63876 broad.mit.edu 37 11 125299921 125299921 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:125299921C>A uc001qbu.2 + 12 1390 c.1076C>A c.(1075-1077)GCC>GAC p.A359D PKNOX2_uc010saz.1_Missense_Mutation_p.A330D|PKNOX2_uc010sba.1_Missense_Mutation_p.A330D|PKNOX2_uc010sbb.1_Missense_Mutation_p.A295D|PKNOX2_uc001qbv.2_Missense_Mutation_p.A124D NM_022062 NP_071345 Q96KN3 PKNX2_HUMAN PBX/knotted 1 homeobox 2 359 nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117) CCAGATCCTGCCCCCAAAGCC 0.607 NA 25 219 3.73148e-12 4.75796e-12 0.007291 1 0 KIRREL3 84623 broad.mit.edu 37 11 126306857 126306857 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:126306857G>A uc001qea.2 - 12 1762 c.1401C>T c.(1399-1401)CGC>CGT p.R467R KIRREL3_uc001qeb.2_Silent_p.R467R|KIRREL3_uc001qec.1_Silent_p.R467R|ST3GAL4_uc001qdx.1_Intron NM_032531 NP_115920 Q8IZU9 KIRR3_HUMAN kin of IRRE like 3 isoform 1 467 Extracellular (Potential).|Ig-like C2-type 5. hemopoiesis extracellular region|integral to membrane|plasma membrane protein binding ovary(3) 3 all_hematologic(175;0.145) Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12) CCACCGTATAGCGCCCCGATG 0.642 NA 6 17 0 0 0.001984 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130340820 130340820 + Missense_Mutation SNP G G A rs147190472 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:130340820G>A uc010scd.1 + 6 1726 c.1726G>A c.(1726-1728)GGA>AGA p.G576R NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 576 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) CCTAGCCTCCGGAAAGAGCTT 0.602 NA 6 104 0 0 0.001168 0 0 GLB1L2 89944 broad.mit.edu 37 11 134239735 134239735 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:134239735C>T uc001qhp.2 + 11 1252 c.1064C>T c.(1063-1065)ACG>ATG p.T355M GLB1L2_uc009zdg.1_RNA NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 355 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) GGCGATTACACGGCCAAGTAC 0.552 NA 4 149 0 0 0.009096 0 0 DYRK4 8798 broad.mit.edu 37 12 4722693 4722693 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:4722693A>G uc001qmx.2 + 13 1497 c.1337A>G c.(1336-1338)AAA>AGA p.K446R DYRK4_uc001qmy.1_Missense_Mutation_p.K445R|DYRK4_uc001qmz.1_Missense_Mutation_p.K159R|DYRK4_uc001qna.1_Missense_Mutation_p.K82R|DYRK4_uc010ser.1_Missense_Mutation_p.K83R NM_003845 NP_003836 Q9NR20 DYRK4_HUMAN dual-specificity tyrosine-(Y)-phosphorylation 446 Golgi apparatus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(2)|skin(1) 3 Colorectal(7;0.103) GAGATCACCAAAGAGACTACA 0.438 NA 21 131 0 0 0.00333 0 0 VWF 7450 broad.mit.edu 37 12 6135206 6135206 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:6135206C>A uc001qnn.1 - 23 3224 c.2974G>T c.(2974-2976)GTG>TTG p.V992L VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 992 VWFD 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) AGGCCACACACTTTCTCCTTG 0.557 NA 34 196 3.61848e-18 5.10177e-18 0.007835 1 0 ACRBP 84519 broad.mit.edu 37 12 6756063 6756063 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:6756063G>T uc001qpu.1 - 2 207 c.159C>A c.(157-159)ACC>ACA p.T53T ACRBP_uc010sfg.1_Silent_p.T53T NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 53 acrosomal vesicle|extracellular region central_nervous_system(1) 1 CTGCCTTCCAGGTTGGAGTCA 0.607 NA 10 29 2.68362e-12 3.4259e-12 0.001368 1 0 LRRC23 10233 broad.mit.edu 37 12 7015720 7015720 + Silent SNP C C T rs116689978 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:7015720C>T uc001qrt.3 + 4 776 c.384C>T c.(382-384)GCC>GCT p.A128A LRRC23_uc001qrn.1_Silent_p.A128A|LRRC23_uc009zfg.2_RNA|LRRC23_uc001qrp.2_Silent_p.A128A|LRRC23_uc001qrq.2_Silent_p.A128A|LRRC23_uc001qrr.2_Silent_p.A77A|LRRC23_uc001qrs.2_Silent_p.A77A|LRRC23_uc009zfh.2_Silent_p.A128A NM_001135217 NP_001128689 Q53EV4 LRC23_HUMAN leucine rich repeat containing 23 isoform a 128 LRR 2. ovary(1) 1 TGCGAAGTGCCCAGATGAATG 0.493 NA 7 421 0 0 0.00308 0 0 CD163 9332 broad.mit.edu 37 12 7636091 7636092 + Missense_Mutation DNP CC CC AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:7636091_7636092CC>AA uc001qsz.3 - 12 3087_3088 c.2959_2960GG>TT c.(2959-2961)GGG>TTG p.G987L CD163_uc001qta.3_Missense_Mutation_p.G987L|CD163_uc009zfw.2_Missense_Mutation_p.G1020L NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 987 SRCR 9.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CGGTCCAGTCCCCTGACCAAAC 0.52 NA 49 147 0 0 0.004672 0 0 PZP 5858 broad.mit.edu 37 12 9317736 9317736 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:9317736C>T uc001qvl.2 - 19 2515 c.2486G>A c.(2485-2487)CGG>CAG p.R829Q PZP_uc009zgl.2_Missense_Mutation_p.R698Q|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Missense_Mutation_p.R161Q NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 TTTCCTTACCCGGATGCATTT 0.463 Melanoma(125;1402 1695 4685 34487 38571) NA 5 356 0 0 0.00308 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214101 11214101 + Missense_Mutation SNP C C T rs147671448 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:11214101C>T uc001qzp.1 - 1 793 c.793G>A c.(793-795)GAA>AAA p.E265K PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176887 NP_795368 P59540 T2R46_HUMAN taste receptor, type 2, member 46 265 Helical; Name=7; (Potential). sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) GCAATAGCTTCGCAGAACATG 0.418 NA 17 663 0 0 0.008871 0 0 ABCC9 10060 broad.mit.edu 37 12 22089557 22089557 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:22089557C>G uc001rfi.1 - 1 72 c.52G>C c.(52-54)GGT>CGT p.G18R ABCC9_uc001rfh.2_Missense_Mutation_p.G18R|ABCC9_uc001rfj.1_Missense_Mutation_p.G18R|ABCC9_uc001rfk.2_Missense_Mutation_p.G18R|ABCC9_uc001rfl.1_Missense_Mutation_p.G18R NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 18 Extracellular (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TGTAGTACACCATCGTTGATA 0.338 NA 23 120 0 0 0.00333 0 0 SOX5 6660 broad.mit.edu 37 12 23999036 23999036 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:23999036C>A uc001rfw.2 - 3 464 c.362G>T c.(361-363)GGC>GTC p.G121V SOX5_uc001rfx.2_Missense_Mutation_p.G108V|SOX5_uc001rfy.2_Missense_Mutation_p.G108V|SOX5_uc010siv.1_Missense_Mutation_p.G108V|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.G73V|SOX5_uc001rga.2_Missense_Mutation_p.G86V NM_006940 NP_008871 P35711 SOX5_HUMAN SRY (sex determining region Y)-box 5 isoform a 121 transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(5)|lung(1) 6 CAAGGACTCGCCACTCTGTCG 0.498 NA 15 147 9.16793e-09 1.08926e-08 0.00499 1 0 PPFIBP1 8496 broad.mit.edu 37 12 27787877 27787877 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:27787877T>C uc001ric.1 + 4 476 c.99T>C c.(97-99)TTT>TTC p.F33F PPFIBP1_uc001rhy.1_Silent_p.F33F|PPFIBP1_uc001rhz.1_Silent_p.F33F|PPFIBP1_uc010sjr.1_Intron|PPFIBP1_uc001rib.1_Silent_p.F33F|PPFIBP1_uc001ria.2_Silent_p.F33F|PPFIBP1_uc001rid.1_Intron NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 33 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) ATGGGATTTTTGATTGCCAAT 0.418 NA 6 255 0 0 0.00308 0 0 IPO8 10526 broad.mit.edu 37 12 30783888 30783888 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:30783888G>T uc001rjd.2 - 25 3190 c.3020C>A c.(3019-3021)GCA>GAA p.A1007E IPO8_uc001rje.1_3'UTR|IPO8_uc010sjt.1_Missense_Mutation_p.A802E NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 1007 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CTTCTTCTTTGCCTCTAGCAT 0.398 NA 42 91 8.69298e-16 1.17063e-15 0.006999 1 0 IPO8 10526 broad.mit.edu 37 12 30837234 30837234 + Splice_Site SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:30837234C>A uc001rjd.2 - 3 493 c.323_splice c.e3+1 p.R108_splice NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GCACCACATACCTCACTAAAT 0.398 NA 66 168 5.04879e-28 7.83432e-28 0.00361 1 0 Unknown 0 broad.mit.edu 37 12 31292033 31292033 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:31292033C>T uc010sjy.1 - 14 1936 c.1936G>A c.(1936-1938)GAT>AAT p.D646N RecName: Full=Ovostatin homolog 1; Flags: Precursor; NA ATATCTCCATCCCCATAGTTG 0.348 NA 29 155 0 0 0.00361 0 0 BICD1 636 broad.mit.edu 37 12 32260458 32260458 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:32260458G>C uc001rku.2 + 1 274 c.193G>C c.(193-195)GAG>CAG p.E65Q BICD1_uc001rkv.2_Missense_Mutation_p.E65Q|BICD1_uc010skd.1_RNA NM_001714 NP_001705 Q96G01 BICD1_HUMAN bicaudal D homolog 1 isoform 1 65 Potential. anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton large_intestine(1)|central_nervous_system(1) 2 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) CCTCAAACAGGAGCTGGAGCA 0.577 NA 2 7 0 0 0.009096 0 0 YARS2 51067 broad.mit.edu 37 12 32908775 32908775 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:32908775C>A uc001rli.2 - 1 100 c.34G>T c.(34-36)GGC>TGC p.G12C NM_001040436 NP_001035526 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 12 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity 0 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) GACCACCGGCCCCAGGAAAAG 0.612 NA OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 19 1.3612e-06 1.55074e-06 0.003163 1 0 ANO6 196527 broad.mit.edu 37 12 45810526 45810526 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:45810526C>T uc001roo.2 + 17 2391 c.2056C>T c.(2056-2058)CTG>TTG p.L686L ANO6_uc010sld.1_Silent_p.L686L|ANO6_uc010sle.1_Silent_p.L686L|ANO6_uc010slf.1_Silent_p.L707L|ANO6_uc010slg.1_Silent_p.L668L NM_001025356 NP_001020527 Q4KMQ2 ANO6_HUMAN anoctamin 6 isoform a 686 Helical; (Potential). activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet chloride channel complex|plasma membrane chloride channel activity ovary(1)|kidney(1) 2 CTCTTTTCCACTGGCCCCTCT 0.473 NA 113 150 0 0 0.00361 0 0 ARID2 196528 broad.mit.edu 37 12 46233207 46233207 + Nonsense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:46233207C>T uc001ros.1 + 11 1426 c.1426C>T c.(1426-1428)CAA>TAA p.Q476* ARID2_uc001ror.2_Nonsense_Mutation_p.Q476*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q103*|ARID2_uc001rot.1_Nonsense_Mutation_p.Q122* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 476 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCCAGTCATCAAATGTTATC 0.413 NA 8 496 0 0 0.00308 0 0 SFRS2IP 9169 broad.mit.edu 37 12 46320773 46320773 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:46320773C>A uc001rox.2 - 11 2998 c.2711G>T c.(2710-2712)GGA>GTA p.G904V SFRS2IP_uc001row.2_Missense_Mutation_p.G589V|SFRS2IP_uc001roy.1_Missense_Mutation_p.G978V NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 904 Arg-rich. spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) GGATTTTTCTCCTGGGGAAGA 0.458 NA 126 159 1.06126e-43 1.81642e-43 0.00361 1 0 RAPGEF3 10411 broad.mit.edu 37 12 48143570 48143570 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:48143570C>A uc009zkp.2 - 8 1162 c.722G>T c.(721-723)TGG>TTG p.W241L RAPGEF3_uc010sln.1_5'Flank|RAPGEF3_uc001rpy.2_5'Flank|RAPGEF3_uc009zkq.2_Missense_Mutation_p.W241L|RAPGEF3_uc001rpz.3_Missense_Mutation_p.W283L|RAPGEF3_uc001rqa.2_5'Flank|RAPGEF3_uc009zkr.2_RNA|RAPGEF3_uc009zks.2_Missense_Mutation_p.W295L|RAPGEF3_uc001rqb.3_Missense_Mutation_p.W283L NM_001098532 NP_001092002 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor 3 isoform 241 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity lung(2)|skin(1)|pancreas(1) 4 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) GATAATGTACCACGAAGTGCC 0.592 NA 27 31 1.39806e-14 1.83686e-14 0.008361 1 0 ADCY6 112 broad.mit.edu 37 12 49170251 49170251 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:49170251C>A uc001rsh.3 - 6 2155 c.1495G>T c.(1495-1497)GTG>TTG p.V499L ADCY6_uc001rsj.3_Missense_Mutation_p.V499L|ADCY6_uc001rsi.3_Missense_Mutation_p.V499L|ADCY6_uc010slw.1_5'Flank NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 499 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 GCCAGGGTCACATCATTGGAC 0.647 NA 16 40 0.000566183 0.000612703 0.00499 1 0 LETMD1 25875 broad.mit.edu 37 12 51442900 51442900 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:51442900G>T uc001rxm.2 + 2 262 c.206G>T c.(205-207)GGG>GTG p.G69V LETMD1_uc010smz.1_Missense_Mutation_p.G69V|LETMD1_uc010sna.1_Missense_Mutation_p.G69V|LETMD1_uc001rxl.2_Missense_Mutation_p.G13V|LETMD1_uc009zlv.2_RNA|LETMD1_uc001rxs.2_Missense_Mutation_p.G69V|LETMD1_uc009zlw.2_Missense_Mutation_p.G69V|LETMD1_uc001rxn.2_5'UTR|LETMD1_uc001rxo.2_RNA|LETMD1_uc001rxp.2_Intron|LETMD1_uc001rxq.2_Missense_Mutation_p.G69V|LETMD1_uc001rxr.2_RNA|LETMD1_uc001rxt.2_5'UTR NM_015416 NP_056231 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 isoform 1 69 Cytoplasmic (Potential).|Required and sufficient for mitochondrial import. integral to membrane|mitochondrial outer membrane protein binding central_nervous_system(2) 2 GCGATTAATGGGAAATACCAT 0.398 NA 41 64 4.17328e-34 6.72708e-34 0.00361 1 0 BIN2 51411 broad.mit.edu 37 12 51689596 51689596 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:51689596C>G uc001ryg.2 - 9 797 c.745G>C c.(745-747)GTG>CTG p.V249L BIN2_uc009zlz.2_Missense_Mutation_p.V217L|BIN2_uc001ryh.2_Missense_Mutation_p.V125L|BIN2_uc010sng.1_Missense_Mutation_p.V223L NM_016293 NP_057377 Q9UBW5 BIN2_HUMAN bridging integrator 2 249 cytoplasm protein binding ovary(1) 1 AGTCCCTTCACCACAAAGACT 0.453 NA 122 250 0 0 0.00361 0 0 KRT6A 3853 broad.mit.edu 37 12 52885477 52885477 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:52885477C>A uc001sam.2 - 2 793 c.584G>T c.(583-585)TGG>TTG p.W195L NM_005554 NP_005545 P02538 K2C6A_HUMAN keratin 6A 195 Coil 1A.|Rod. cell differentiation|ectoderm development|positive regulation of cell proliferation keratin filament protein binding|structural constituent of cytoskeleton ovary(4)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.189) CAGCAGGGTCCACTTTGTTTC 0.522 NA 29 42 2.84144e-21 4.13578e-21 0.00361 1 0 KRT5 3852 broad.mit.edu 37 12 52910579 52910579 + Silent SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:52910579A>G uc001san.2 - 7 1444 c.1281T>C c.(1279-1281)GAT>GAC p.D427D KRT5_uc009zmh.2_Silent_p.D427D NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 427 Rod.|Coil 2. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TGTTCCTGGCATCCTTGAGGG 0.617 NA 108 146 0 0 0.00361 0 0 SOAT2 8435 broad.mit.edu 37 12 53515143 53515143 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:53515143C>T uc001sbv.2 + 12 1282 c.1194C>T c.(1192-1194)GTC>GTT p.V398V SOAT2_uc009zms.2_RNA NM_003578 NP_003569 O75908 SOAT2_HUMAN acyl-CoA:cholesterol acyltransferase 2 398 cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly brush border|endoplasmic reticulum membrane|integral to membrane|microsome cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding ovary(1) 1 ACGTGGTGGTCCATGACTGGC 0.567 NA 8 140 0 0 0.008291 0 0 ZNF385A 25946 broad.mit.edu 37 12 54767848 54767848 + Silent SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:54767848G>C uc001sfw.1 - 3 453 c.270C>G c.(268-270)ACC>ACG p.T90T ZNF385A_uc001sfv.1_Silent_p.T71T|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Silent_p.T90T|ZNF385A_uc001sfx.1_Silent_p.T90T|ZNF385A_uc001sfy.3_Silent_p.T110T|ZNF385A_uc001sfz.3_Silent_p.T110T NM_015481 NP_056296 Q96PM9 Z385A_HUMAN zinc finger protein 385A isoform c 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding|zinc ion binding ovary(1) 1 CCCTGCCTCTGGTCTTGGCAG 0.597 NA 12 22 0 0 0.007413 0 0 KIAA0748 9840 broad.mit.edu 37 12 55356793 55356793 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:55356793G>A uc001sgn.3 - 9 999 c.889C>T c.(889-891)CGA>TGA p.R297* KIAA0748_uc001sgl.3_Nonsense_Mutation_p.R159*|KIAA0748_uc001sgm.3_Nonsense_Mutation_p.R44*|KIAA0748_uc010spb.1_Nonsense_Mutation_p.R44*|KIAA0748_uc010spc.1_Nonsense_Mutation_p.R159*|KIAA0748_uc010spd.1_Nonsense_Mutation_p.R297*|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 297 ovary(1)|central_nervous_system(1) 2 GGCCGGTCTCGGGGGCATGTG 0.542 NA 97 145 0 0 0.00361 0 0 OR6C6 283365 broad.mit.edu 37 12 55688351 55688351 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:55688351G>T uc010sph.1 - 1 666 c.666C>A c.(664-666)ACC>ACA p.T222T NM_001005493 NP_001005493 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|skin(1) 2 ATTTCAGAATGGTCTTAATAA 0.398 NA 8 391 1.12685e-05 1.26376e-05 0.004482 1 0 OR6C1 390321 broad.mit.edu 37 12 55714510 55714510 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:55714510C>A uc010spi.1 + 1 127 c.127C>A c.(127-129)CTT>ATT p.L43I NM_001005182 NP_001005182 Q96RD1 OR6C1_HUMAN olfactory receptor, family 6, subfamily C, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 GAACCTGACCCTTATCACAAT 0.423 NA 66 85 2.23399e-28 3.48155e-28 0.00361 1 0 TIMELESS 8914 broad.mit.edu 37 12 56811918 56811918 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:56811918C>A uc001slf.2 - 27 3622 c.3454G>T c.(3454-3456)GAG>TAG p.E1152* NM_003920 NP_003911 Q9UNS1 TIM_HUMAN timeless homolog 1152 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin ovary(5)|breast(2)|pancreas(1) 8 GCACTATTACCCTCTGGGGAT 0.532 NA 112 172 7.55469e-51 1.32238e-50 0.00361 1 0 RDH16 8608 broad.mit.edu 37 12 57345827 57345827 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:57345827C>A uc001smi.3 - 4 1112 c.940G>T c.(940-942)GCC>TCC p.A314S RDH16_uc009zpa.2_Missense_Mutation_p.A169S NM_003708 NP_003699 O75452 RDH16_HUMAN retinol dehydrogenase 16 314 Lumenal (Potential). lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome binding|electron carrier activity|retinol dehydrogenase activity 0 AGAGCCTTGGCCGGGCTTGGA 0.537 GBM(179;741 2921 43105 45298) NA 34 46 8.16277e-20 1.16611e-19 0.006999 1 0 TPH2 121278 broad.mit.edu 37 12 72416181 72416181 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:72416181C>G uc009zrw.1 + 9 1212 c.1071C>G c.(1069-1071)TGC>TGG p.C357W TPH2_uc001swy.2_Missense_Mutation_p.C267W NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 357 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) TTCTTCAGTGCTATTTCTTCA 0.413 NA 10 270 0 0 0.001368 0 0 PHLDA1 22822 broad.mit.edu 37 12 76424788 76424788 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:76424788C>A uc001sxu.2 - 1 769 c.734G>T c.(733-735)CGC>CTC p.R245L NM_007350 NP_031376 Q8WV24 PHLA1_HUMAN pleckstrin homology-like domain, family A, 245 PH. apoptosis cytoplasmic vesicle membrane|nucleolus|plasma membrane protein binding 0 Colorectal(145;0.09) CTTGCCCTTGCGCTCCACACA 0.612 NA 39 39 4.14194e-30 6.54947e-30 0.002852 1 0 EPYC 1833 broad.mit.edu 37 12 91358003 91358003 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:91358003G>T uc001tbk.2 - 7 992 c.899C>A c.(898-900)CCT>CAT p.P300H NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 300 LRR 6. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 GAGATTAATAGGGTTTCCATC 0.393 NA 41 59 3.70713e-34 5.98461e-34 0.00361 1 0 CCDC63 160762 broad.mit.edu 37 12 111336809 111336809 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:111336809G>T uc001trv.1 + 10 1417 c.1222G>T c.(1222-1224)GAT>TAT p.D408Y CCDC63_uc010sye.1_Missense_Mutation_p.D368Y|CCDC63_uc001trw.1_Missense_Mutation_p.D323Y NM_152591 NP_689804 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 408 Potential. skin(6)|ovary(1)|pancreas(1) 8 CAAGACCTTGGATCTATTGAA 0.507 NA 82 81 1.13884e-41 1.9218e-41 0.00361 1 0 TBX5 6910 broad.mit.edu 37 12 114804114 114804114 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:114804114C>T uc001tvo.2 - 8 1333 c.838G>A c.(838-840)GCT>ACT p.A280T TBX5_uc001tvp.2_Missense_Mutation_p.A280T|TBX5_uc001tvq.2_Missense_Mutation_p.A230T|TBX5_uc010syv.1_Missense_Mutation_p.A280T NM_181486 NP_852259 Q99593 TBX5_HUMAN T-box 5 isoform 1 280 cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(6)|pancreas(1)|skin(1) 8 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0893) GTGGAGAGAGCTCGAGACTCG 0.552 NSCLC(152;1358 1980 4050 23898 40356) NA 21 224 0 0 0.002299 0 0 TBX3 6926 broad.mit.edu 37 12 115114148 115114148 + Missense_Mutation SNP C C A rs140580685 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:115114148C>A uc001tvt.1 - 6 2033 c.1069G>T c.(1069-1071)GCC>TCC p.A357S TBX3_uc001tvu.1_Missense_Mutation_p.A337S NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 357 anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development nucleus sequence-specific DNA binding ovary(2)|skin(1) 3 Medulloblastoma(191;0.163)|all_neural(191;0.178) BRCA - Breast invasive adenocarcinoma(302;0.0574) ACAGTGGAGGCGGCTGGAGAA 0.522 NA 39 33 5.2432e-18 7.36367e-18 0.00361 1 0 NOS1 4842 broad.mit.edu 37 12 117718572 117718572 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:117718572G>A uc001twm.1 - 8 2168 c.1482C>T c.(1480-1482)GAC>GAT p.D494D NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 494 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GGGTGGAGCCGTCAGGCTGCT 0.617 Esophageal Squamous(162;1748 2599 51982 52956) NA 8 79 0 0 0.006214 0 0 CIT 11113 broad.mit.edu 37 12 120263085 120263085 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:120263085C>A uc001txi.1 - 8 894 c.841G>T c.(841-843)GGC>TGC p.G281C CIT_uc001txj.1_Missense_Mutation_p.G281C NM_007174 NP_009105 O14578 CTRO_HUMAN citron 281 Protein kinase. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) CAGTCCAGGCCGTAGGTGCCT 0.527 NA 124 170 1.7381e-60 3.15487e-60 0.00361 1 0 RNF17 56163 broad.mit.edu 37 13 25356050 25356050 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:25356050G>A uc001upr.2 + 6 620 c.579G>A c.(577-579)CAG>CAA p.Q193Q RNF17_uc010tdd.1_Silent_p.Q52Q|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Silent_p.Q193Q|RNF17_uc001ups.2_Silent_p.Q132Q|RNF17_uc001upq.1_Silent_p.Q193Q NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 193 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TGGAGAAACAGTTTGACCAAC 0.328 NA 36 200 0 0 0.00361 0 0 NUPL1 9818 broad.mit.edu 37 13 25881957 25881957 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:25881957G>T uc001uqi.2 + 2 367 c.121G>T c.(121-123)GGG>TGG p.G41W NUPL1_uc001uqg.1_Missense_Mutation_p.G41W|NUPL1_uc001uqj.2_Missense_Mutation_p.G41W NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 41 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) CCCTTCTGTGGGGCTCAATTT 0.378 Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618) NA 12 51 9.05144e-12 1.14067e-11 0.001855 1 0 KATNAL1 84056 broad.mit.edu 37 13 30801606 30801606 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:30801606T>C uc001uss.2 - 9 1191 c.1090A>G c.(1090-1092)ATT>GTT p.I364V KATNAL1_uc001ust.2_Missense_Mutation_p.I364V NM_001014380 NP_001014402 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 364 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity 0 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) GCTTCATCAATGTCCCACGGG 0.378 NA 72 394 0 0 0.00361 0 0 HSPH1 10808 broad.mit.edu 37 13 31713001 31713001 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:31713001C>T uc001utj.2 - 16 2523 c.2125G>A c.(2125-2127)GCT>ACT p.A709T HSPH1_uc001utk.2_Missense_Mutation_p.A665T|HSPH1_uc010aaw.2_Missense_Mutation_p.A668T|HSPH1_uc001utl.2_Missense_Mutation_p.A711T|HSPH1_uc010tds.1_Missense_Mutation_p.A633T NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 709 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CGTTCTTCAGCTTCCTGAAAC 0.313 NA 17 139 0 0 0.001882 0 0 FRY 10129 broad.mit.edu 37 13 32811626 32811626 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:32811626A>T uc001utx.2 + 44 6417 c.5921A>T c.(5920-5922)GAA>GTA p.E1974V FRY_uc010tdw.1_RNA NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 1974 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCAACTGCCGAACGGAGCCGG 0.532 NA 6 50 0 0 0.008291 0 0 PDS5B 23047 broad.mit.edu 37 13 33320130 33320130 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:33320130A>T uc010abf.2 + 24 2786 c.2628A>T c.(2626-2628)TCA>TCT p.S876S PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 876 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) CAGATATGTCACGTCTGAGAC 0.328 NA 21 266 0 0 0.008361 0 0 STARD13 90627 broad.mit.edu 37 13 33703975 33703975 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:33703975C>A uc001uuw.2 - 5 965 c.839G>T c.(838-840)CGG>CTG p.R280L STARD13_uc001uuu.2_Missense_Mutation_p.R272L|STARD13_uc001uuv.2_Missense_Mutation_p.R162L|STARD13_uc001uux.2_Missense_Mutation_p.R245L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R265L NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 280 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GCCACCTGTCCGCCCAGACCC 0.542 NA 17 189 7.07596e-05 7.798e-05 0.006122 1 0 STARD13 90627 broad.mit.edu 37 13 33704350 33704350 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:33704350C>A uc001uuw.2 - 5 590 c.464G>T c.(463-465)CGT>CTT p.R155L STARD13_uc001uuu.2_Missense_Mutation_p.R147L|STARD13_uc001uuv.2_Missense_Mutation_p.R37L|STARD13_uc001uux.2_Missense_Mutation_p.R120L|STARD13_uc010tec.1_RNA|STARD13_uc010abh.1_Missense_Mutation_p.R140L NM_178006 NP_821074 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain 155 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding ovary(2)|pancreas(1)|skin(1) 4 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) GTCGTCCACACGAGACCACCT 0.552 NA 20 140 1.12875e-08 1.33815e-08 0.00632 1 0 RFC3 5983 broad.mit.edu 37 13 34404943 34404943 + Nonsense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:34404943A>T uc001uuz.2 + 6 771 c.661A>T c.(661-663)AGA>TGA p.R221* RFC3_uc001uva.2_Nonsense_Mutation_p.R221*|RFC3_uc010ted.1_Nonsense_Mutation_p.R221* NM_002915 NP_002906 P40938 RFC3_HUMAN replication factor C 3 isoform 1 221 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding 0 Hepatocellular(188;0.0191)|Lung SC(185;0.0548) all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123) GAAGTCTTGTAGAAATCTCAG 0.383 NA 23 125 0 0 0.002096 0 0 NBEA 26960 broad.mit.edu 37 13 35733541 35733541 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:35733541C>A uc001uvb.2 + 23 3439 c.3233C>A c.(3232-3234)CCG>CAG p.P1078Q NBEA_uc010abi.2_5'Flank NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1078 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GATTTATCACCGGAGACTTTA 0.403 NA 11 85 2.31682e-05 2.57425e-05 0.003163 1 0 ELF1 1997 broad.mit.edu 37 13 41507884 41507884 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:41507884G>C uc001uxs.2 - 9 1910 c.1537C>G c.(1537-1539)CAG>GAG p.Q513E ELF1_uc010tfc.1_Missense_Mutation_p.Q489E|ELF1_uc010acd.2_Missense_Mutation_p.Q406E NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 513 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) CAAATGGTCTGAACATTGCTA 0.517 NA 18 142 0 0 0.006122 0 0 PCDH17 27253 broad.mit.edu 37 13 58209184 58209184 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:58209184G>C uc001vhq.1 + 1 3396 c.2504G>C c.(2503-2505)AGC>ACC p.S835T PCDH17_uc010aec.1_Missense_Mutation_p.S835T NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 835 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TGCCACACCAGCTTCACCGGA 0.577 Melanoma(72;952 1291 1619 12849 33676) NA 4 22 0 0 0.009096 0 0 KLHL1 57626 broad.mit.edu 37 13 70314575 70314575 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:70314575T>A uc001vip.2 - 8 2547 c.1753A>T c.(1753-1755)AGT>TGT p.S585C KLHL1_uc010thm.1_Missense_Mutation_p.S524C NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 585 Kelch 3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ATTGACATACTGGCTACAAAT 0.403 NA 23 160 0 0 0.005443 0 0 C13orf34 79866 broad.mit.edu 37 13 73319235 73319235 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:73319235T>A uc001viv.1 + 8 747 c.628T>A c.(628-630)TCG>ACG p.S210T C13orf34_uc010thq.1_5'UTR|C13orf34_uc010aen.1_Missense_Mutation_p.S285T|C13orf34_uc010thr.1_Missense_Mutation_p.S140T|C13orf34_uc001viw.1_Missense_Mutation_p.S159T NM_024808 NP_079084 Q6PGQ7 BORA_HUMAN aurora borealis 210 Ser-rich. cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding 0 Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.000227) CTCCTTACCTTCGGCTTCTCC 0.448 NA 25 207 0 0 0.005524 0 0 UCHL3 7347 broad.mit.edu 37 13 76134927 76134927 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:76134927C>T uc001vjq.2 + 3 123 c.93C>T c.(91-93)TTC>TTT p.F31F UCHL3_uc001vjr.2_5'UTR NM_006002 NP_005993 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 31 ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity 0 GBM - Glioblastoma multiforme(99;0.0125) ACTGGCAATTCGTTGATGTAT 0.338 NA 5 197 0 0 0.001984 0 0 SLITRK6 84189 broad.mit.edu 37 13 86369289 86369289 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:86369289G>T uc001vll.1 - 2 1814 c.1355C>A c.(1354-1356)CCA>CAA p.P452Q SLITRK6_uc010afe.1_Intron NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN slit and trk like 6 precursor 452 Extracellular (Potential).|LRR 9. integral to membrane large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AAAGGTTCCTGGCAGTATTTC 0.358 NA 14 106 2.48551e-13 3.2225e-13 0.00499 1 0 GPC5 2262 broad.mit.edu 37 13 92101100 92101100 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:92101100G>T uc010tif.1 + 2 615 c.249G>T c.(247-249)CAG>CAT p.Q83H NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 83 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CGGCTCGCCAGGATATGCAGC 0.438 NA 53 276 7.22619e-39 1.20436e-38 0.00361 1 0 SLC10A2 6555 broad.mit.edu 37 13 103718254 103718254 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:103718254C>A uc001vpy.3 - 1 943 c.346G>T c.(346-348)GCC>TCC p.A116S NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 116 Extracellular (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) ACCCAATAGGCCAAGATATTG 0.507 NA 23 270 8.24728e-16 1.11338e-15 0.004656 1 0 LIG4 3981 broad.mit.edu 37 13 108861585 108861585 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:108861585G>A uc001vqn.2 - 2 2305 c.2032C>T c.(2032-2034)CTG>TTG p.L678L LIG4_uc001vqo.2_Silent_p.L678L|LIG4_uc010agg.1_Silent_p.L611L|LIG4_uc010agf.2_Silent_p.L678L|LIG4_uc001vqp.2_Silent_p.L678L NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 678 BRCT 1. cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) CTGTTCTCCAGGTCAGGCTTT 0.383 NA NHEJ 8 26 0 0 0.008291 0 0 ADPRHL1 113622 broad.mit.edu 37 13 114107681 114107681 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:114107681C>T uc001vtq.1 - 1 159 c.72G>A c.(70-72)AAG>AAA p.K24K NM_138430 NP_612439 Q8NDY3 ARHL1_HUMAN ADP-ribosylhydrolase like 1 isoform 1 24 protein de-ADP-ribosylation ADP-ribosylarginine hydrolase activity|magnesium ion binding 0 Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116) TGCTGTTCTCCTTGCAGACAT 0.577 NA 18 66 0 0 0.001882 0 0 OR4L1 122742 broad.mit.edu 37 14 20528425 20528425 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:20528425C>T uc001vwn.1 + 1 222 c.222C>T c.(220-222)TCC>TCT p.S74S NM_001004717 NP_001004717 Q8NH43 OR4L1_HUMAN olfactory receptor, family 4, subfamily L, 74 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) TGTGTCTCTCCACTGCCACAA 0.453 NA 49 392 0 0 0.00361 0 0 RNASE2 6036 broad.mit.edu 37 14 21424254 21424254 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:21424254C>A uc010aif.2 + 2 393 c.324C>A c.(322-324)ATC>ATA p.I108I RNASE2_uc001vyl.1_Silent_p.I108I NM_002934 NP_002925 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, 108 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TGCCTTTAATCCACTGTAACC 0.418 NA 69 363 6.00099e-30 9.44762e-30 0.00361 1 0 NDRG2 57447 broad.mit.edu 37 14 21486634 21486634 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:21486634G>T uc001vyy.2 - 14 993 c.843C>A c.(841-843)ACC>ACA p.T281T NDRG2_uc010tll.1_Silent_p.T277T|NDRG2_uc001vyt.2_Silent_p.T194T|NDRG2_uc001vyu.2_Silent_p.T238T|NDRG2_uc001vyv.2_Silent_p.T267T|NDRG2_uc001vyw.2_Silent_p.T267T|NDRG2_uc001vzb.2_Silent_p.T221T|NDRG2_uc001vyx.2_Silent_p.T281T|NDRG2_uc001vza.2_Silent_p.T267T|NDRG2_uc001vyz.2_Silent_p.T267T|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Silent_p.T281T|NDRG2_uc001vzd.2_Silent_p.T281T|NDRG2_uc001vzg.2_Silent_p.T267T|NDRG2_uc001vzf.2_Silent_p.T267T|NDRG2_uc010aig.2_Silent_p.T270T NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN N-myc downstream-regulated gene 2 isoform a 281 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm ovary(1)|breast(1) 2 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ACGAGGTCTGGGTGGGGTCCA 0.582 NA 14 33 9.16793e-09 1.08926e-08 0.00499 1 0 Unknown 0 broad.mit.edu 37 14 22337510 22337510 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:22337510C>A uc010tmf.1 + 2 383 c.304C>A c.(304-306)CCT>ACT p.P102T uc001wbw.2_Intron|uc010tmg.1_Intron|uc010tmh.1_Missense_Mutation_p.P101T|uc001wby.2_Intron SubName: Full=Putative uncharacterized protein ENSP00000374943; NA AGAGACCCAACCTGAAGACTC 0.493 NA 101 260 1.2656e-43 2.15932e-43 0.00361 1 0 NYNRIN 57523 broad.mit.edu 37 14 24877306 24877306 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:24877306G>T uc001wpf.3 + 3 748 c.430G>T c.(430-432)GGC>TGC p.G144C NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 144 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 ACTGCGCTGGGGCCCTGCCCC 0.687 NA 5 19 0.00116845 0.00123961 0.001168 1 0 GZMH 2999 broad.mit.edu 37 14 25075914 25075914 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:25075914G>T uc001wpr.1 - 5 681 c.636C>A c.(634-636)GCC>GCA p.A212A GZMH_uc010aly.1_Silent_p.A126A|GZMH_uc010alz.1_3'UTR NM_033423 NP_219491 P20718 GRAH_HUMAN granzyme H precursor 212 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(265;0.0267) GAATACCTTGGGCTACGTCCT 0.532 NA 24 122 1.06647e-15 1.4308e-15 0.003755 1 0 PRKD1 5587 broad.mit.edu 37 14 30133065 30133065 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:30133065C>A uc001wqh.2 - 4 717 c.536G>T c.(535-537)GGG>GTG p.G179V NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 179 Phorbol-ester/DAG-type 1. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CAGACCACACCCTGGAAAGGG 0.358 NA 54 163 9.87224e-16 1.32777e-15 0.00361 1 0 HEATR5A 25938 broad.mit.edu 37 14 31778370 31778370 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:31778370G>T uc001wrf.3 - 23 3658 c.3581C>A c.(3580-3582)GCA>GAA p.A1194E HEATR5A_uc010ami.2_Missense_Mutation_p.A1092E NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 1481 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) ACTAGTCTCTGCTGTGTAGAA 0.343 NA 42 159 3.68337e-26 5.63462e-26 0.00361 1 0 AKAP6 9472 broad.mit.edu 37 14 33015542 33015542 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:33015542T>C uc001wrq.2 + 4 1853 c.1683T>C c.(1681-1683)AGT>AGC p.S561S AKAP6_uc010aml.2_Silent_p.S558S NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 561 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATCAGAGAAGTTGGAATGCCA 0.458 Melanoma(49;821 1200 7288 13647 42351) NA 7 424 0 0 0.00308 0 0 EXOC5 10640 broad.mit.edu 37 14 57684713 57684713 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:57684713T>G uc001xct.2 - 15 1851 c.1600A>C c.(1600-1602)ACT>CCT p.T534P EXOC5_uc001xcs.2_Missense_Mutation_p.T213P|EXOC5_uc010trg.1_Missense_Mutation_p.T479P|EXOC5_uc010trh.1_Missense_Mutation_p.T469P NM_006544 NP_006535 O00471 EXOC5_HUMAN SEC10 protein 534 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm ovary(2)|breast(1) 3 TCAATGCCAGTATCCAATTTC 0.289 NA 17 164 0 0 0.002299 0 0 SLC35F4 341880 broad.mit.edu 37 14 58036699 58036699 + Splice_Site SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:58036699C>A uc001xdb.1 - 6 1042 c.1042_splice c.e6-1 p.V348_splice SLC35F4_uc010aoz.1_Splice_Site|SLC35F4_uc010apa.1_Splice_Site_p.V189_splice NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 TAAACAAGACCTGGAATGAGA 0.433 NA 5 36 0.00116845 0.00123961 0.001168 1 0 RHOJ 57381 broad.mit.edu 37 14 63671738 63671738 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:63671738G>A uc001xgb.1 + 1 594 c.151G>A c.(151-153)GTG>ATG p.V51M NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN ras homolog gene family, member J precursor 51 Effector region (Potential). actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) AGAGGAATACGTGCCCACTGT 0.557 NA 28 208 0 0 0.006999 0 0 ESR2 2100 broad.mit.edu 37 14 64699947 64699947 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:64699947G>A uc001xha.1 - 9 1969 c.1501C>T c.(1501-1503)CGC>TGC p.R501C ESR2_uc001xgu.2_Intron|ESR2_uc001xgv.2_Intron|ESR2_uc001xgw.2_Intron|ESR2_uc001xgx.2_Intron|ESR2_uc001xgy.1_Intron|ESR2_uc001xgz.1_3'UTR|ESR2_uc010aqb.1_RNA|ESR2_uc010aqc.1_Missense_Mutation_p.R410C NM_001437 NP_001428 Q92731 ESR2_HUMAN estrogen receptor beta isoform 1 501 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) TTGCACCCGCGAAGCACGTGG 0.562 NA 10 393 0 0 0.000978 0 0 RAB15 376267 broad.mit.edu 37 14 65417768 65417768 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:65417768C>T uc001xhz.2 - 4 429 c.348G>A c.(346-348)CCG>CCA p.P116P FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|RAB15_uc010aqk.2_RNA NM_198686 NP_941959 P59190 RAB15_HUMAN RAB15, member RAS onocogene family Error:Variant_position_missing_in_P59190_after_alignment protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1) 1 all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102) CTCCACACCCCGGCAGTGAGG 0.562 NA 3 54 0 0 0.004672 0 0 FUT8 2530 broad.mit.edu 37 14 66135974 66135974 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:66135974G>C uc001xin.2 + 7 1808 c.611G>C c.(610-612)TGC>TCC p.C204S FUT8_uc001xio.2_Missense_Mutation_p.C204S|FUT8_uc010tsp.1_Missense_Mutation_p.C41S|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.C204S|FUT8_uc001xiq.2_Missense_Mutation_p.C75S|FUT8_uc001xis.2_5'Flank NM_178155 NP_835368 Q9BYC5 FUT8_HUMAN fucosyltransferase 8 isoform a 204 Lumenal (Potential). in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding ovary(1) 1 all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114) CCCAAGGACTGCAGCAAAGCC 0.383 NA 24 81 0 0 0.00632 0 0 FAM71D 161142 broad.mit.edu 37 14 67675062 67675062 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:67675062C>T uc001xja.1 + 6 1310 c.1056C>T c.(1054-1056)ACC>ACT p.T352T FAM71D_uc010aqn.1_RNA NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN hypothetical protein LOC161142 352 ovary(1) 1 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) CTACCTTGACCCCAGTAGAAA 0.383 NA 36 174 0 0 0.006999 0 0 SMOC1 64093 broad.mit.edu 37 14 70490078 70490078 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:70490078G>T uc001xls.1 + 11 1458 c.1205G>T c.(1204-1206)CGG>CTG p.R402L SMOC1_uc001xlt.1_Missense_Mutation_p.R402L NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 402 EF-hand 2. cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) AAATGTGCCCGGCGTTTCACC 0.527 NA 95 328 1.14165e-66 2.11127e-66 0.00361 1 0 ADAM21P1 145241 broad.mit.edu 37 14 70714185 70714185 + Translation_Start_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:70714185G>T uc010ttg.1 - 1 334 c.-317C>A c.(-319--315)GTCTG>GTATG NR_003951 SubName: Full=ADAM21-like protein; 0 CCAAACCGCAGACTATAGGAG 0.522 NA 4 43 0.00116845 0.00123961 0.001168 1 0 ADAM20 8748 broad.mit.edu 37 14 70991190 70991190 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:70991190C>A uc001xme.2 - 2 680 c.435G>T c.(433-435)CAG>CAT p.Q145H NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 95 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) GCAGGGCATGCTGCTCTGTGT 0.522 NA 84 461 5.70515e-31 9.07446e-31 0.00361 1 0 DIO2 1734 broad.mit.edu 37 14 80669342 80669342 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:80669342G>T uc010tvq.1 - 4 914 c.512C>A c.(511-513)GCG>GAG p.A171E DIO2_uc010tvp.1_Missense_Mutation_p.A207E|DIO2_uc001xut.2_RNA|DIO2_uc010asx.2_3'UTR|DIO2_uc010tvr.1_Missense_Mutation_p.A171E|DIO2_uc010asy.2_3'UTR NM_000793 NP_000784 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II isoform a 171 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.0281) CCCCGGTATCGCCCAGCCATC 0.552 NA OREG0022848 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 128 3.73988e-18 5.25921e-18 0.00632 1 0 GALC 2581 broad.mit.edu 37 14 88407816 88407816 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:88407816C>A uc001xvt.2 - 15 2156 c.1757G>T c.(1756-1758)GGT>GTT p.G586V GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Missense_Mutation_p.G560V|GALC_uc010tvy.1_Missense_Mutation_p.G563V|GALC_uc010tvz.1_Missense_Mutation_p.G530V NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 586 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 AATCAAAATACCACCTTTATT 0.358 NA 40 442 1.23713e-20 1.78623e-20 0.00361 1 0 SMEK1 55671 broad.mit.edu 37 14 91927780 91927780 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:91927780C>A uc001xzn.2 - 14 3158 c.2336G>T c.(2335-2337)GGC>GTC p.G779V SMEK1_uc001xzm.2_Missense_Mutation_p.G766V|SMEK1_uc001xzo.2_Missense_Mutation_p.G766V|SMEK1_uc010atz.2_Missense_Mutation_p.G540V NM_032560 NP_115949 Q6IN85 P4R3A_HUMAN SMEK homolog 1, suppressor of mek1 779 microtubule organizing center|nucleus protein binding 0 all_cancers(154;0.0691)|all_epithelial(191;0.219) COAD - Colon adenocarcinoma(157;0.221) TCCAGGAGAGCCTGGAGATCC 0.488 NA 50 351 2.41709e-19 3.43481e-19 0.00361 1 0 PPP4R4 57718 broad.mit.edu 37 14 94731788 94731788 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:94731788C>T uc001ycs.1 + 21 2416 c.2262C>T c.(2260-2262)CCC>CCT p.P754P NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 754 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TTCCTGGACCCTCTTCTGTCA 0.358 NA 19 161 0 0 0.00278 0 0 SERPINA11 256394 broad.mit.edu 37 14 94914953 94914953 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:94914953G>T uc001ydd.1 - 2 219 c.159C>A c.(157-159)ACC>ACA p.T53T NM_001080451 NP_001073920 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 53 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity kidney(1) 1 COAD - Colon adenocarcinoma(157;0.211) AATTGGTAATGGTGGGTGTGA 0.572 NA 135 509 1.12709e-80 2.12436e-80 0.00361 1 0 SERPINA9 327657 broad.mit.edu 37 14 94936027 94936027 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:94936027A>T uc001ydf.2 - 2 366 c.205T>A c.(205-207)TTT>ATT p.F69I SERPINA9_uc001yde.2_Missense_Mutation_p.F69I|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.F69I|SERPINA9_uc001ydi.1_Intron NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 51 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) CGGAAGGCAAAGTCGGTGTTG 0.582 NA 144 385 0 0 0.00361 0 0 SERPINA9 327657 broad.mit.edu 37 14 94936140 94936140 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:94936140C>G uc001ydf.2 - 2 253 c.92G>C c.(91-93)GGC>GCC p.G31A SERPINA9_uc001yde.2_Missense_Mutation_p.G31A|SERPINA9_uc010avc.2_Intron|SERPINA9_uc001ydg.2_Intron|SERPINA9_uc001ydh.1_Missense_Mutation_p.G31A|SERPINA9_uc001ydi.1_Intron NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 13 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) AGCACAGAGGCCAACAGCAAA 0.517 NA 183 630 0 0 0.00361 0 0 DICER1 23405 broad.mit.edu 37 14 95573945 95573945 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:95573945C>T uc001ydw.2 - 18 2986 c.2804G>A c.(2803-2805)AGA>AAA p.R935K DICER1_uc010avh.1_5'Flank|DICER1_uc001ydv.2_Missense_Mutation_p.R925K|DICER1_uc001ydx.2_Missense_Mutation_p.R935K NM_030621 NP_085124 Q9UPY3 DICER_HUMAN dicer1 935 PAZ. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity skin(2)|ovary(1)|pancreas(1)|lung(1) 5 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) AAATACCTACCTTGGAATGAT 0.274 NA Mis F|N pleuropulmonary blastoma DICER_1_syndrome_|Familial_Multinodular_Goiter_ 6 153 0 0 0.001984 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102476788 102476788 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:102476788G>T uc001yks.2 + 31 6561 c.6397G>T c.(6397-6399)GAA>TAA p.E2133* NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 2133 cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 AAATCTCCCTGAACAAGAGGT 0.388 NA 28 50 9.17885e-22 1.34873e-21 0.003271 1 0 AHNAK2 113146 broad.mit.edu 37 14 105407714 105407714 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:105407714C>T uc010axc.1 - 7 14194 c.14074G>A c.(14074-14076)GAA>AAA p.E4692K AHNAK2_uc001ypx.2_Missense_Mutation_p.E4592K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4692 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) ATTCCAACTTCTCCAACAGCA 0.413 NA 4 16 0 0 0.000602 0 0 GPR132 29933 broad.mit.edu 37 14 105518393 105518393 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:105518393G>T uc001yqd.2 - 4 980 c.81C>A c.(79-81)GGC>GGA p.G27G GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Silent_p.G18G NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 27 Extracellular (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) TGGCGGAGAGGCCCAGGGAGG 0.637 NA 11 22 3.27435e-08 3.83963e-08 0.00245 1 0 BUB1B 701 broad.mit.edu 37 15 40468681 40468681 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:40468681C>T uc001zkx.3 + 5 600 c.388C>T c.(388-390)CGT>TGT p.R130C BUB1B_uc010ucl.1_5'UTR NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 130 BUB1 N-terminal. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GTTACAGGGGCGTTTATGCAA 0.398 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 77 169 0 0 0.00361 0 0 TGM7 116179 broad.mit.edu 37 15 43585794 43585794 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:43585794T>A uc001zrf.1 - 2 51 c.46A>T c.(46-48)AGC>TGC p.S16C NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 16 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) TTCCTGGAGCTCTGCAGGTCG 0.652 NA 3 12 0 0 0.004672 0 0 CKMT1B 1159 broad.mit.edu 37 15 43890471 43890471 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:43890471C>T uc001zsc.2 + 8 1349 c.957C>T c.(955-957)AAC>AAT p.N319N CKMT1B_uc010uds.1_Silent_p.N350N|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc001zsd.3_Silent_p.N319N|CKMT1B_uc010bdj.2_RNA|CKMT1B_uc010udy.1_RNA NM_020990 NP_066270 P12532 KCRU_HUMAN creatine kinase, mitochondrial 1B precursor 319 Phosphagen kinase C-terminal. creatine metabolic process mitochondrial inner membrane ATP binding|creatine kinase activity 0 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) Creatine(DB00148) GTCCATCTAACCTGGGCACTG 0.512 NA 50 179 0 0 0.00361 0 0 DUOX1 53905 broad.mit.edu 37 15 45444142 45444142 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:45444142C>A uc001zus.1 + 25 3431 c.3085C>A c.(3085-3087)CAG>AAG p.Q1029K DUOX1_uc001zut.1_Missense_Mutation_p.Q1029K|DUOX1_uc010bee.1_Missense_Mutation_p.Q409K|DUOX1_uc001zuu.2_Missense_Mutation_p.Q171K NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1029 Cytoplasmic (Potential).|Interaction with TXNDC11 (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity ovary(5)|skin(2)|breast(1) 8 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) CTGTCTCCACCAGACGGTGCA 0.587 NA 15 51 1.15088e-07 1.33507e-07 0.004007 1 0 SLC12A1 6557 broad.mit.edu 37 15 48500307 48500307 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:48500307C>A uc001zwn.3 + 2 607 c.391C>A c.(391-393)CTG>ATG p.L131M SLC12A1_uc010uew.1_Intron|SLC12A1_uc010bem.2_Missense_Mutation_p.L131M|SLC12A1_uc010uex.1_Missense_Mutation_p.L131M NM_000338 NP_000329 Q13621 S12A1_HUMAN sodium potassium chloride cotransporter 2 131 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity ovary(1)|central_nervous_system(1) 2 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) CCGACCCAGCCTGCTTGAGAT 0.468 NA 115 168 1.24568e-56 2.22369e-56 0.00361 1 0 SLC27A2 11001 broad.mit.edu 37 15 50494839 50494839 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:50494839G>T uc001zxw.2 + 3 1076 c.844G>T c.(844-846)GCT>TCT p.A282S SLC27A2_uc010bes.2_Intron|SLC27A2_uc001zxx.2_Missense_Mutation_p.A47S NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 282 Helical; (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) ATGTATTGTGGCTGGTAAGCT 0.428 NA 22 439 5.61819e-17 7.75913e-17 0.005443 1 0 UNC13C 440279 broad.mit.edu 37 15 54307745 54307745 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:54307745T>A uc002ack.2 + 1 2645 c.2645T>A c.(2644-2646)ATG>AAG p.M882K NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 882 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GTTGAAGTCATGGAACAAGTC 0.378 NA 96 198 0 0 0.00361 0 0 NEDD4 4734 broad.mit.edu 37 15 56140724 56140724 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:56140724T>C uc002adj.2 - 12 3035 c.2735A>G c.(2734-2736)AAT>AGT p.N912S NEDD4_uc002adl.2_Missense_Mutation_p.N493S|NEDD4_uc002adi.2_Missense_Mutation_p.N840S|NEDD4_uc010ugj.1_Missense_Mutation_p.N896S|NEDD4_uc010bfm.2_Missense_Mutation_p.N895S|NEDD4_uc002adk.2_RNA NM_198400 NP_006145 P46934 NEDD4_HUMAN neural precursor cell expressed, developmentally 912 WW 4.|Mediates interaction with TNIK (By similarity). development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|breast(1) 4 all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113) CATACTGTGATTTATGTAGAA 0.308 NA 21 63 0 0 0.00632 0 0 BNIP2 663 broad.mit.edu 37 15 59961504 59961504 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:59961504T>A uc010uhc.1 - 8 1131 c.1128A>T c.(1126-1128)ACA>ACT p.T376T BNIP2_uc002agi.3_5'Flank|BNIP2_uc010uhb.1_Silent_p.T317T NM_004330 NP_004321 Q12982 BNIP2_HUMAN BCL2/adenovirus E1B 19kD interacting protein 2 255 CRAL-TRIO. anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation nuclear envelope|perinuclear region of cytoplasm calcium ion binding|GTPase activator activity|protein binding ovary(1) 1 CAGCCAGAAGTGTTCTGATAA 0.244 Ovarian(174;1936 1978 6671 8240 38212) NA 16 51 0 0 0.00278 0 0 VPS13C 54832 broad.mit.edu 37 15 62264919 62264919 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:62264919T>C uc002agz.2 - 27 2736 c.2662A>G c.(2662-2664)ACT>GCT p.T888A VPS13C_uc002aha.2_Missense_Mutation_p.T845A|VPS13C_uc002ahb.1_Missense_Mutation_p.T888A|VPS13C_uc002ahc.1_Missense_Mutation_p.T845A NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 888 protein localization ovary(2) 2 CTTTTACAAGTCTGTGGTTCT 0.348 NA 48 164 0 0 0.00361 0 0 C15orf60 283677 broad.mit.edu 37 15 73852136 73852136 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:73852136C>A uc002avq.2 + 6 708 c.680C>A c.(679-681)TCT>TAT p.S227Y C15orf60_uc010bjb.2_Missense_Mutation_p.S199Y NM_001042367 NP_001035826 Q7Z4M0 CO060_HUMAN hypothetical protein LOC283677 227 pancreas(1) 1 TATGAACAATCTGCATGGGGT 0.463 NA 38 101 5.75399e-11 7.15111e-11 0.00361 1 0 ISLR 3671 broad.mit.edu 37 15 74467708 74467708 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:74467708C>T uc002axg.1 + 2 791 c.509C>T c.(508-510)ACC>ATC p.T170I ISLR_uc002axh.1_Missense_Mutation_p.T170I NM_005545 NP_005536 O14498 ISLR_HUMAN immunoglobulin superfamily containing 170 cell adhesion extracellular region large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 ACCCCGCTCACCGCGCTGTCC 0.657 NA 15 29 0 0 0.008871 0 0 MAN2C1 4123 broad.mit.edu 37 15 75650895 75650895 + Missense_Mutation SNP C C T rs150018240 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:75650895C>T uc002baf.2 - 20 2328 c.2311G>A c.(2311-2313)GCC>ACC p.A771T MAN2C1_uc002bag.2_Missense_Mutation_p.A771T|MAN2C1_uc002bah.2_Missense_Mutation_p.A788T|MAN2C1_uc010bkk.2_Missense_Mutation_p.A672T NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 771 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 AAGAACCAGGCGCTGCCCCGC 0.647 NA 8 14 0 0 0.006214 0 0 CPEB1 64506 broad.mit.edu 37 15 83215961 83215961 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:83215961G>A uc002bit.2 - 10 1758 c.1621C>T c.(1621-1623)CAA>TAA p.Q541* CPEB1_uc002biq.2_Nonsense_Mutation_p.Q401*|CPEB1_uc002bir.2_Nonsense_Mutation_p.Q406*|CPEB1_uc002bis.2_Nonsense_Mutation_p.Q401*|CPEB1_uc010uod.1_Nonsense_Mutation_p.Q250*|CPEB1_uc010uoe.1_Nonsense_Mutation_p.Q479*|CPEB1_uc002biu.2_Nonsense_Mutation_p.Q503*|CPEB1_uc010uof.1_Nonsense_Mutation_p.Q401*|CPEB1_uc002biv.2_Nonsense_Mutation_p.Q476*|CPEB1_uc002bip.2_Nonsense_Mutation_p.Q250* NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 481 RRM 2.|Necessary for stress granule assembly and correct localization in dcp1 bodies. mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) TAACTCCGTTGGTTATTGAAA 0.413 NA 25 92 0 0 0.007291 0 0 SH3GL3 6457 broad.mit.edu 37 15 84237364 84237364 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:84237364G>A uc002bjw.2 + 4 466 c.271G>A c.(271-273)GGC>AGC p.G91S SH3GL3_uc010uot.1_Missense_Mutation_p.G91S|SH3GL3_uc002bjx.2_Missense_Mutation_p.G22S|SH3GL3_uc002bju.2_Missense_Mutation_p.G99S|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 91 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GCAGACGGAAGGCTTGCTGGG 0.517 NA 14 171 0 0 0.00499 0 0 SH3GL3 6457 broad.mit.edu 37 15 84237394 84237394 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:84237394G>T uc002bjw.2 + 4 496 c.301G>T c.(301-303)GGG>TGG p.G101W SH3GL3_uc010uot.1_Missense_Mutation_p.G101W|SH3GL3_uc002bjx.2_Missense_Mutation_p.G32W|SH3GL3_uc002bju.2_Missense_Mutation_p.G109W|SH3GL3_uc002bjv.2_RNA NM_003027 NP_003018 Q99963 SH3G3_HUMAN SH3-domain GRB2-like 3 101 BAR. central nervous system development|endocytosis|signal transduction early endosome membrane identical protein binding|lipid binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GCTGAAATACGGGAAGGAGCT 0.527 NA 41 103 3.39706e-21 4.92459e-21 0.00361 1 0 ZNF592 9640 broad.mit.edu 37 15 85326477 85326477 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:85326477G>C uc002bld.2 + 4 907 c.571G>C c.(571-573)GTT>CTT p.V191L ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 191 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) TAAGTTTCCGGTTCCAGAGCT 0.537 NA 29 89 0 0 0.008361 0 0 AGBL1 123624 broad.mit.edu 37 15 86838537 86838537 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:86838537C>A uc002blz.1 + 16 2214 c.2134C>A c.(2134-2136)CGG>AGG p.R712R AGBL1_uc002bma.1_Silent_p.R443R|AGBL1_uc002bmb.1_Silent_p.R406R NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 712 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 GGTCTACTTCCGGCAAGATGT 0.468 NA 81 156 5.2429e-30 8.26618e-30 0.00361 1 0 TARSL2 123283 broad.mit.edu 37 15 102197168 102197168 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:102197168C>T uc002bxm.2 - 18 2272 c.2217G>A c.(2215-2217)AAG>AAA p.K739K TARSL2_uc002bxl.2_3'UTR|TARSL2_uc010usi.1_RNA NM_152334 NP_689547 A2RTX5 SYTC2_HUMAN threonyl-tRNA synthetase-like 2 739 threonyl-tRNA aminoacylation cytoplasm ATP binding|threonine-tRNA ligase activity ovary(2) 2 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TTCGTATTTTCTTATTTAGTG 0.313 NA 10 24 0 0 0.001855 0 0 SRRM2 23524 broad.mit.edu 37 16 2814828 2814828 + Silent SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:2814828A>G uc002crk.2 + 11 4848 c.4299A>G c.(4297-4299)AGA>AGG p.R1433R SRRM2_uc002crj.1_Silent_p.R1337R|SRRM2_uc002crl.1_Silent_p.R1433R|SRRM2_uc010bsu.1_Silent_p.R1337R NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 1433 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GTTTACCCAGAACTCCATCAA 0.512 NA 5 286 0 0 0.000602 0 0 GPR139 124274 broad.mit.edu 37 16 20043655 20043655 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:20043655G>T uc002dgu.1 - 2 626 c.464C>A c.(463-465)ACC>AAC p.T155N GPR139_uc010vaw.1_Missense_Mutation_p.T62N NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 155 Helical; Name=4; (Potential). integral to membrane|plasma membrane ovary(2) 2 CAGGAAGCAGGTGATGTAAAC 0.522 NA 35 316 7.53189e-24 1.1251e-23 0.007835 1 0 UMOD 7369 broad.mit.edu 37 16 20360484 20360484 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:20360484C>A uc002dgz.2 - 3 268 c.139G>T c.(139-141)GTT>TTT p.V47F UMOD_uc002dha.2_Missense_Mutation_p.V47F|UMOD_uc002dhb.2_Missense_Mutation_p.V80F NM_003361 NP_003352 P07911 UROM_HUMAN uromodulin precursor 47 EGF-like 1. cellular defense response|negative regulation of cell proliferation anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole calcium ion binding ovary(1)|skin(1) 2 CACGTCGTAACGGCCTCATCC 0.612 NA 3 47 0.004672 0.00487985 0.004672 1 0 PDILT 204474 broad.mit.edu 37 16 20380897 20380897 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:20380897C>A uc002dhc.1 - 8 1256 c.1033G>T c.(1033-1035)GCC>TCC p.A345S NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 345 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TTGTACCTGGCGTCAGAGCTC 0.468 NA 48 330 4.88482e-21 7.0624e-21 0.00361 1 0 OTOA 146183 broad.mit.edu 37 16 21737980 21737980 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:21737980G>T uc002djh.2 + 18 2017 c.2016_splice c.e18+1 p.L672_splice uc002diq.3_Intron|OTOA_uc010vbj.1_Splice_Site_p.L593_splice|OTOA_uc002dji.2_Splice_Site_p.L348_splice|OTOA_uc010vbk.1_Splice_Site_p.L320_splice NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) GCAGTGCCTGGTAAGAAAACT 0.537 NA 31 190 2.87052e-16 3.90941e-16 0.005524 1 0 PDZD9 255762 broad.mit.edu 37 16 21999929 21999929 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:21999929A>C uc002dka.1 - 4 526 c.209T>G c.(208-210)GTA>GGA p.V70G NM_173806 NP_776167 Q8IXQ8 PDZD9_HUMAN hypothetical protein LOC255762 132 pancreas(1) 1 TTACCTTGTTACTGGGAATTT 0.343 NA 29 82 0 0 0.009535 0 0 PALB2 79728 broad.mit.edu 37 16 23634330 23634330 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:23634330C>A uc002dlx.1 - 9 3156 c.2956G>T c.(2956-2958)GAT>TAT p.D986Y NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 986 Interaction with RAD51 and BRCA2.|WD 3. double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) ACTTGTTGATCAGAAAGGGTC 0.378 NA F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 46 196 1.44317e-28 2.25234e-28 0.00361 1 0 DCTN5 84516 broad.mit.edu 37 16 23669846 23669846 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:23669846T>G uc002dly.1 + 3 193 c.136T>G c.(136-138)TGT>GGT p.C46G NM_032486 NP_115875 Q9BTE1 DCTN5_HUMAN dynactin 5 46 centrosome transferase activity upper_aerodigestive_tract(1) 1 GBM - Glioblastoma multiforme(48;0.0156) GATGAATGACTGTATTATCCG 0.378 NA 6 249 0 0 0.001168 0 0 ERN2 10595 broad.mit.edu 37 16 23713521 23713521 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:23713521T>C uc002dma.3 - 11 1468 c.1299A>G c.(1297-1299)GCA>GCG p.A433A ERN2_uc010bxp.2_Silent_p.A433A|ERN2_uc010bxq.1_Silent_p.A241A NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 385 Lumenal (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GTCTTGTCTCTGCAGTTCCAC 0.622 NA 8 70 0 0 0.00308 0 0 PRKCB 5579 broad.mit.edu 37 16 24046867 24046867 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:24046867C>A uc002dmd.2 + 5 725 c.528C>A c.(526-528)CTC>CTA p.L176L PRKCB_uc002dme.2_Silent_p.L176L NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 176 C2. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TCATTGTCCTCGGTAGGTGGC 0.647 NA 29 129 9.65021e-13 1.24222e-12 0.002096 1 0 RBBP6 5930 broad.mit.edu 37 16 24578506 24578506 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:24578506G>C uc002dmh.2 + 15 2672 c.1632G>C c.(1630-1632)AGG>AGC p.R544S RBBP6_uc010vcb.1_Missense_Mutation_p.R411S|RBBP6_uc002dmi.2_Missense_Mutation_p.R544S|RBBP6_uc010bxr.2_Intron|RBBP6_uc002dmk.2_Missense_Mutation_p.R411S NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN retinoblastoma-binding protein 6 isoform 1 544 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|pancreas(1) 4 GBM - Glioblastoma multiforme(48;0.0518) GATCACAGAGGACTCAAGGCC 0.294 NA 41 144 0 0 0.00361 0 0 SLC5A11 115584 broad.mit.edu 37 16 24895432 24895432 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:24895432C>T uc002dmu.2 + 8 876 c.644C>T c.(643-645)GCG>GTG p.A215V SLC5A11_uc002dms.2_Missense_Mutation_p.A151V|SLC5A11_uc010vcd.1_Missense_Mutation_p.A180V|SLC5A11_uc002dmt.2_Missense_Mutation_p.A151V|SLC5A11_uc010vce.1_Missense_Mutation_p.A145V|SLC5A11_uc010bxt.2_Missense_Mutation_p.A151V NM_052944 NP_443176 Q8WWX8 SC5AB_HUMAN solute carrier family 5 (sodium/glucose 215 Helical; (Potential). apoptosis|carbohydrate transport|sodium ion transport integral to membrane|plasma membrane polyol transmembrane transporter activity|symporter activity ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0365) CTTATAGGAGCGCTCACCTTG 0.592 NA 91 313 0 0 0.00361 0 0 GTF3C1 2975 broad.mit.edu 37 16 27540011 27540011 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:27540011T>A uc002dov.1 - 6 921 c.881A>T c.(880-882)TAC>TTC p.Y294F GTF3C1_uc002dou.2_Missense_Mutation_p.Y294F NM_001520 NP_001511 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 294 transcription factor TFIIIC complex DNA binding|protein binding ovary(2)|pancreas(1)|breast(1)|skin(1) 5 CATATACTGGTACAGACGCTT 0.453 NA 21 562 0 0 0.003954 0 0 APOB48R 55911 broad.mit.edu 37 16 28509228 28509228 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:28509228G>T uc002dqb.1 + 3 2849 c.2839G>T c.(2839-2841)GCA>TCA p.A947S uc010vct.1_Intron|APOB48R_uc010byg.1_Missense_Mutation_p.A485S NM_018690 NP_061160 Q0VD83 APOBR_HUMAN apolipoprotein B48 receptor 947 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle 0 CCAGGCCCCTGCAGAAGCTGC 0.667 NA 24 82 7.26314e-15 9.58948e-15 0.007291 1 0 ATP2A1 487 broad.mit.edu 37 16 28898990 28898990 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:28898990C>T uc002dro.1 + 8 1059 c.875C>T c.(874-876)GCC>GTC p.A292V uc010vct.1_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.A292V|ATP2A1_uc002drp.1_Missense_Mutation_p.A167V|ATP2A1_uc010bym.1_5'Flank NM_173201 NP_775293 O14983 AT2A1_HUMAN ATPase, Ca++ transporting, fast twitch 1 isoform 292 Lumenal (By similarity). apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane ATP binding|ATP binding|calcium ion binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TTCCGCGGGGCCATCTACTAC 0.547 NA 3 48 0 0 0.004672 0 0 SPN 6693 broad.mit.edu 37 16 29675148 29675148 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:29675148G>T uc002dtm.2 + 2 235 c.99G>T c.(97-99)TTG>TTT p.L33F uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SPN_uc002dtn.2_Missense_Mutation_p.L33F|SPN_uc010bzd.2_RNA NM_001030288 NP_001025459 P16150 LEUK_HUMAN sialophorin precursor 33 Extracellular (Potential). blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process extracellular space|integral to plasma membrane bacterial cell surface binding|transmembrane receptor activity central_nervous_system(2) 2 GAGAGCCTTTGGTCTCTACTA 0.577 NA 17 81 1.2644e-06 1.44656e-06 0.010504 1 0 SEZ6L2 26470 broad.mit.edu 37 16 29897071 29897071 + Splice_Site SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:29897071C>T uc002duq.3 - 8 1449 c.1209_splice c.e8-1 p.R403_splice uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Splice_Site_p.R333_splice|SEZ6L2_uc002dur.3_Splice_Site_p.R333_splice|SEZ6L2_uc002dus.3_Splice_Site_p.R289_splice|SEZ6L2_uc010vec.1_Splice_Site_p.R403_splice|SEZ6L2_uc010ved.1_Splice_Site_p.R359_splice NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 CACCATCAGCCTGGGATGGAC 0.557 NA 3 40 0 0 0.000602 0 0 ARMC5 79798 broad.mit.edu 37 16 31471201 31471201 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:31471201C>T uc002ecc.2 + 1 885 c.356C>T c.(355-357)CCT>CTT p.P119L ARMC5_uc010vfn.1_Missense_Mutation_p.P214L|ARMC5_uc010vfo.1_Missense_Mutation_p.P151L|ARMC5_uc002eca.3_Missense_Mutation_p.P119L|ARMC5_uc010vfp.1_Missense_Mutation_p.P119L|ARMC5_uc002ecb.2_Missense_Mutation_p.P119L NM_001105247 NP_001098717 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 isoform a 119 binding pancreas(1) 1 TCGTCTAGTCCTACGCCGCCA 0.587 NA 7 20 0 0 0.00308 0 0 VPS35 55737 broad.mit.edu 37 16 46715307 46715307 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:46715307C>G uc002eef.3 - 4 404 c.305G>C c.(304-306)GGA>GCA p.G102A VPS35_uc002eed.2_5'Flank|VPS35_uc002eee.2_Missense_Mutation_p.G63A NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 102 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GATAATGTTTCCAGCATACTG 0.378 NA 31 140 0 0 0.004878 0 0 CNOT1 23019 broad.mit.edu 37 16 58616700 58616700 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:58616700T>A uc002env.2 - 10 1334 c.1041A>T c.(1039-1041)GAA>GAT p.E347D CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E347D|CNOT1_uc002enx.2_Missense_Mutation_p.E347D|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 347 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TACTCACCAGTTCTTTAAGAA 0.383 NA 5 34 0 0 0.000602 0 0 CDH1 999 broad.mit.edu 37 16 68849475 68849475 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:68849475G>T uc002ewg.1 + 10 1502 c.1378G>T c.(1378-1380)GTA>TTA p.V460L CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.V399L NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 460 Cadherin 3.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.G441_E463del(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GACGAATGTGGTACCTTTTGA 0.473 NA Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer 47 259 4.44712e-29 6.96071e-29 0.00361 1 0 NFAT5 10725 broad.mit.edu 37 16 69660388 69660388 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:69660388C>T uc002exm.1 + 2 1364 c.156C>T c.(154-156)AGC>AGT p.S52S NFAT5_uc002exh.1_5'UTR|NFAT5_uc002exi.2_5'UTR|NFAT5_uc002exj.1_5'UTR|NFAT5_uc002exk.1_5'UTR|NFAT5_uc002exl.1_Silent_p.S70S|NFAT5_uc002exn.1_Silent_p.S70S NM_006599 NP_006590 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5 isoform c 52 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 GTCAGACAAGCGGTGGTGAGG 0.448 NA 4 67 0 0 0.001984 0 0 HYDIN 54768 broad.mit.edu 37 16 70897063 70897063 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:70897063G>T uc002ezr.2 - 68 11619 c.11491C>A c.(11491-11493)CGT>AGT p.R3831S HYDIN_uc010cfy.2_RNA NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3832 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGCTGGACACGTCCTGAATTA 0.463 NA 31 195 2.05212e-20 2.94719e-20 0.005524 1 0 HYDIN 54768 broad.mit.edu 37 16 70908208 70908208 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:70908208C>A uc002ezr.2 - 64 11073 c.10945G>T c.(10945-10947)GCT>TCT p.A3649S NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3650 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TTTCTCCCACCTGCCACCAAG 0.458 NA 36 242 2.56175e-15 3.41145e-15 0.00361 1 0 CNTNAP4 85445 broad.mit.edu 37 16 76486483 76486484 + Missense_Mutation DNP CC CC AG TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:76486483_76486484CC>AG uc002feu.1 + 10 1535_1536 c.1150_1151CC>AG c.(1150-1152)CCA>AGA p.P384R CNTNAP4_uc002fev.1_Missense_Mutation_p.P248R|CNTNAP4_uc010chb.1_Missense_Mutation_p.P311R|CNTNAP4_uc002fex.1_Missense_Mutation_p.P387R|CNTNAP4_uc002few.2_Missense_Mutation_p.P359R NM_033401 NP_207837 Q9C0A0 CNTP4_HUMAN cell recognition protein CASPR4 isoform 1 384 Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(1)|pancreas(1) 2 TTTAGCACTGCCAGACTTCTCT 0.431 NA 15 124 0 0 0.004672 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84906614 84906614 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:84906614G>C uc010voh.1 + 10 1225 c.998G>C c.(997-999)CGC>CCC p.R333P CRISPLD2_uc010vog.1_Intron|CRISPLD2_uc002fio.2_Missense_Mutation_p.R332P|CRISPLD2_uc002fim.2_Missense_Mutation_p.R333P|CRISPLD2_uc002fin.3_Missense_Mutation_p.R333P NM_031476 NP_113664 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain 333 LCCL 1. extracellular region|transport vesicle 0 AGCATATGCCGCGCCGCCATC 0.547 NA 25 148 0 0 0.002096 0 0 FAM92B 339145 broad.mit.edu 37 16 85139044 85139044 + Splice_Site SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:85139044C>A uc010vok.1 - 5 583 c.427_splice c.e5-1 p.S143_splice NM_198491 NP_940893 Q6ZTR7 FA92B_HUMAN hypothetical protein LOC339145 central_nervous_system(1) 1 CTGCCTGGCCCCAGGGACACA 0.582 NA 10 16 2.17888e-05 2.42847e-05 0.006214 1 0 OR3A3 8392 broad.mit.edu 37 17 3324705 3324705 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:3324705G>T uc010vrd.1 + 1 844 c.844G>T c.(844-846)GGG>TGG p.G282W NM_012373 NP_036505 P47888 OR3A3_HUMAN olfactory receptor, family 3, subfamily A, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CAAGGATAAGGGGGTTGGGGT 0.507 NA 114 252 6.85551e-66 1.26563e-65 0.00361 1 0 USP6 9098 broad.mit.edu 37 17 5045714 5045714 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:5045714G>A uc002gau.1 + 25 3965 c.1735G>A c.(1735-1737)GGG>AGG p.G579R USP6_uc002gav.1_Missense_Mutation_p.G579R|USP6_uc010ckz.1_Missense_Mutation_p.G262R NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 579 protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 TGGTATGAAGGGGCATATGGC 0.418 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 7 17 0 0 0.001855 0 0 MYH1 4619 broad.mit.edu 37 17 10399714 10399714 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:10399714G>T uc002gmo.2 - 34 4903 c.4809C>A c.(4807-4809)AGC>AGA p.S1603R uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1603 Potential. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 CATCCAGTGTGCTCTGCATGG 0.448 NA 199 477 1.23147e-137 2.37922e-137 0.00361 1 0 MYH2 4620 broad.mit.edu 37 17 10448802 10448802 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:10448802G>A uc010coi.2 - 5 494 c.366C>T c.(364-366)TTC>TTT p.F122F uc002gml.1_Intron|MYH2_uc002gmp.3_Silent_p.F122F|MYH2_uc010coj.2_Silent_p.F122F NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 122 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 CAGTGACACAGAAGAGACCTG 0.443 NA 23 65 0 0 0.003954 0 0 DNAH9 1770 broad.mit.edu 37 17 11622751 11622751 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:11622751C>T uc002gne.2 + 27 5721 c.5653C>T c.(5653-5655)CGC>TGC p.R1885C DNAH9_uc010coo.2_Missense_Mutation_p.R1179C NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1885 AAA 1 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGACCTGGGCCGCGCACTGGG 0.627 NA 4 104 0 0 0.000602 0 0 DNAH9 1770 broad.mit.edu 37 17 11726350 11726350 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:11726350A>T uc002gne.2 + 48 9313 c.9245A>T c.(9244-9246)CAG>CTG p.Q3082L DNAH9_uc010coo.2_Missense_Mutation_p.Q2376L NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3082 Stalk (By similarity).|Potential. cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) ACCTCTGCCCAGGTGAGCAAT 0.542 NA 14 38 0 0 0.003163 0 0 LGALS9 3965 broad.mit.edu 37 17 25967657 25967657 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:25967657C>T uc002gzp.2 + 3 309 c.191C>T c.(190-192)CCT>CTT p.P64L LGALS9_uc002gzq.2_Missense_Mutation_p.P64L|LGALS9_uc002gzr.2_Intron|LGALS9_uc010waa.1_Intron|LGALS9_uc002gzs.2_Missense_Mutation_p.P64L NM_009587 NP_033665 O00182 LEG9_HUMAN galectin-9 isoform long 64 Galectin 1. positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region galactose binding|signal transducer activity 0 Lung NSC(42;0.0103) BRCA - Breast invasive adenocarcinoma(3;0.0141) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) CACTTCAACCCTCGGTTTGAA 0.527 Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023) NA 17 55 0 0 0.008871 0 0 MYO1D 4642 broad.mit.edu 37 17 31105502 31105502 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:31105502C>A uc002hho.1 - 3 406 c.394G>T c.(394-396)GAA>TAA p.E132* MYO1D_uc002hhp.1_Nonsense_Mutation_p.E132*|MYO1D_uc010wcb.1_Nonsense_Mutation_p.E132* NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 132 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) TCTTACCTTTCAACCTCTGCT 0.478 NA 44 111 3.28156e-27 5.04855e-27 0.00361 1 0 AATF 26574 broad.mit.edu 37 17 35311178 35311178 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:35311178G>A uc002hni.2 + 4 1054 c.803G>A c.(802-804)GGC>GAC p.G268D AATF_uc002hnj.2_RNA NM_012138 NP_036270 Q9NY61 AATF_HUMAN apoptosis antagonizing transcription factor 268 anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus centrosome|focal adhesion|nucleolus leucine zipper domain binding|sequence-specific DNA binding transcription factor activity 0 Breast(25;0.00607) GACAAAGGTGGCCCAGAATTT 0.418 NSCLC(49;901 1159 19183 41572 46244) NA 11 119 0 0 0.001855 0 0 PIP4K2B 8396 broad.mit.edu 37 17 36935738 36935738 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:36935738C>T uc002hqs.2 - 5 1033 c.552G>A c.(550-552)CTG>CTA p.L184L PIP4K2B_uc010wdt.1_Silent_p.L184L|PIP4K2B_uc010wdu.1_Silent_p.L120L NM_003559 NP_003550 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 184 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity ovary(1) 1 GGTACATGCCCAGGAACTGTG 0.517 NA 53 573 0 0 0.00361 0 0 ERBB2 2064 broad.mit.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:37868208C>T uc002hso.2 + 8 1167 c.929C>T c.(928-930)TCC>TTC p.S310F ERBB2_uc002hsm.2_Missense_Mutation_p.S280F|ERBB2_uc010cwa.2_Missense_Mutation_p.S295F|ERBB2_uc002hsp.2_Missense_Mutation_p.S113F|ERBB2_uc010cwb.2_Missense_Mutation_p.S310F|ERBB2_uc010wek.1_Missense_Mutation_p.S34F|ERBB2_uc002hsl.2_Missense_Mutation_p.S280F|ERBB2_uc002hsn.1_Missense_Mutation_p.S310F NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 310 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.S310F(2)|p.S310Y(1) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GACGTGGGATCCTGCACCCTC 0.582 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) 105 145 0 0 0.00361 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40175884 40175884 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:40175884C>T uc002hyq.2 + 4 614 c.549C>T c.(547-549)AAC>AAT p.N183N NKIRAS2_uc010wgd.1_3'UTR|NKIRAS2_uc002hyr.2_Silent_p.N183N|NKIRAS2_uc002hys.2_Silent_p.N183N|NKIRAS2_uc010wge.1_Silent_p.N127N|NKIRAS2_uc002hyt.2_Silent_p.N183N NM_001001349 NP_001001349 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 isoform a 183 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity ovary(1) 1 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) GCCGGAAGAACAAGGGCAGCG 0.607 NA 12 27 0 0 0.004007 0 0 WNK4 65266 broad.mit.edu 37 17 40940775 40940775 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:40940775A>C uc002ibj.2 + 11 2138 c.2117A>C c.(2116-2118)GAT>GCT p.D706A WNK4_uc010wgx.1_Missense_Mutation_p.D370A|WNK4_uc002ibk.1_Missense_Mutation_p.D478A|WNK4_uc010wgy.1_Missense_Mutation_p.D50A NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 706 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) TTCCGATTTGATCTGGATGGG 0.517 Esophageal Squamous(6;201 374 4964 23855 42828) NA 7 89 0 0 0.004482 0 0 ITGA2B 3674 broad.mit.edu 37 17 42455747 42455747 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:42455747C>A uc002igt.1 - 20 2109 c.2077G>T c.(2077-2079)GCC>TCC p.A693S ITGA2B_uc002igu.1_Missense_Mutation_p.A174S NM_000419 NP_000410 P08514 ITA2B_HUMAN integrin alpha 2b preproprotein 693 Extracellular (Potential). axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity ovary(2)|lung(1) 3 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) TTGCTTAGGGCCCGCATGTAG 0.647 NA 14 2 3.52763e-06 3.99774e-06 0.00499 1 0 STXBP4 252983 broad.mit.edu 37 17 53068212 53068212 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:53068212T>C uc002iuf.1 + 4 281 c.74T>C c.(73-75)ATT>ACT p.I25T STXBP4_uc010dcc.1_Intron|STXBP4_uc010dcd.1_Missense_Mutation_p.I25T NM_178509 NP_848604 Q6ZWJ1 STXB4_HUMAN syntaxin binding protein 4 25 PDZ. cytoplasm calcium ion binding ovary(1) 1 ATGATTACAATTGCCAAGGAA 0.393 NA 17 313 0 0 0.010504 0 0 EPX 8288 broad.mit.edu 37 17 56270730 56270730 + Splice_Site SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:56270730A>T uc002ivq.2 + 3 257 c.171_splice c.e3-2 p.S57_splice NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 TCTCCTGGGCAGCATCAAGCA 0.637 NA 44 251 0 0 0.00361 0 0 PPM1E 22843 broad.mit.edu 37 17 57043137 57043137 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:57043137C>A uc002iwx.2 + 3 793 c.666C>A c.(664-666)CTC>CTA p.L222L PPM1E_uc010ddd.2_Intron NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 231 L -> S (in a breast cancer sample; somatic mutation). protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ACTTCCCCCTCCGCAGGAGAC 0.453 NA 7 287 0.00448238 0.00470454 0.004482 1 0 BRIP1 83990 broad.mit.edu 37 17 59760806 59760806 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:59760806T>C uc002izk.1 - 20 3742 c.3601A>G c.(3601-3603)ATT>GTT p.I1201V NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 1201 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding ovary(1) 1 CTTTCTTCAATATGCAGAATT 0.303 NA F|N|Mis AML|leukemia|breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 50 83 0 0 0.00361 0 0 INTS2 57508 broad.mit.edu 37 17 59962347 59962347 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:59962347G>A uc002izn.2 - 16 2104 c.2028C>T c.(2026-2028)CCC>CCT p.P676P INTS2_uc002izm.2_Silent_p.P668P NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 676 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 AATATGATTTGGGCTTTCTTT 0.353 NA 12 39 0 0 0.00245 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60351433 60351433 + Missense_Mutation SNP C C A rs148852498 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:60351433C>A uc002izq.2 - 2 156 c.44G>T c.(43-45)CGA>CTA p.R15L TBC1D3P2_uc010woz.1_RNA SubName: Full=Putative uncharacterized protein TBC1D3E; 0 GATGTCCTCTCGCTCTTGTGC 0.527 NA 10 247 7.93312e-07 9.0953e-07 0.00245 1 0 SCN4A 6329 broad.mit.edu 37 17 62018710 62018710 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:62018710C>G uc002jds.1 - 24 5009 c.4932G>C c.(4930-4932)GTG>GTC p.V1644V NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1644 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCAGGGTGTCCACGAAGTCTG 0.567 NA 15 47 0 0 0.00499 0 0 TEX2 55852 broad.mit.edu 37 17 62272302 62272302 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:62272302C>A uc002jec.2 - 3 1971 c.1798G>T c.(1798-1800)GAG>TAG p.E600* TEX2_uc002jed.2_Nonsense_Mutation_p.E600*|TEX2_uc002jee.2_Nonsense_Mutation_p.E600* NM_018469 NP_060939 Q8IWB9 TEX2_HUMAN testis expressed sequence 2 600 signal transduction|sphingolipid metabolic process integral to membrane ovary(1) 1 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) TAGGTGACCTCTGGCTTGGGT 0.443 NA 42 114 1.56989e-16 2.15163e-16 0.00361 1 0 PITPNC1 26207 broad.mit.edu 37 17 65688809 65688809 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:65688809C>A uc002jgc.2 + 9 1151 c.804C>A c.(802-804)GTC>GTA p.V268V PITPNC1_uc002jgb.2_3'UTR NM_012417 NP_036549 Q9UKF7 PITC1_HUMAN phosphatidylinositol transfer protein, 268 signal transduction cytoplasm lipid binding|phosphatidylinositol transporter activity|protein binding skin(1) 1 all_cancers(12;3.03e-10) BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198) CTTCTTCCGTCCGCAGTGCGC 0.552 NA 8 266 0.000274275 0.000298005 0.004482 1 0 ABCA9 10350 broad.mit.edu 37 17 67039769 67039769 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:67039769C>A uc002jhu.2 - 6 804 c.661G>T c.(661-663)GTT>TTT p.V221F ABCA9_uc010dez.2_Missense_Mutation_p.V221F|ABCA9_uc002jhv.2_Missense_Mutation_p.V221F NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 221 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TCAGTTGCAACTCCTCCTTGG 0.328 NA 31 227 2.1956e-27 3.38749e-27 0.004289 1 0 ABCA10 10349 broad.mit.edu 37 17 67151277 67151277 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:67151277C>A uc010dfa.1 - 31 4456 c.3577G>T c.(3577-3579)GAA>TAA p.E1193* ABCA10_uc010wqs.1_Nonsense_Mutation_p.E185*|ABCA10_uc010wqt.1_RNA NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A, member 10 1193 transport integral to membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;6.95e-12) ATGACTGGTTCCTGGAAAACA 0.323 NA 32 74 1.61004e-24 2.42855e-24 0.00361 1 0 TNRC6C 57690 broad.mit.edu 37 17 76047196 76047196 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:76047196G>A uc002jud.2 + 4 2653 c.2053G>A c.(2053-2055)GTG>ATG p.V685M TNRC6C_uc002juf.2_Missense_Mutation_p.V685M|TNRC6C_uc002jue.2_Missense_Mutation_p.V685M NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN trinucleotide repeat containing 6C isoform 2 685 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation nucleotide binding|RNA binding ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) AGCTGCTTCTGTGAAACAGAC 0.552 NA 9 22 0 0 0.000978 0 0 TMC6 11322 broad.mit.edu 37 17 76113395 76113395 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:76113395C>A uc002juj.1 - 17 2358 c.2232G>T c.(2230-2232)CGG>CGT p.R744R TMC6_uc002jui.1_Silent_p.R323R|TMC6_uc010dhf.1_Silent_p.R577R|TMC6_uc002juk.2_Silent_p.R744R|TMC6_uc010dhg.1_Intron|TMC6_uc002jul.1_Silent_p.R744R NM_007267 NP_009198 Q7Z403 TMC6_HUMAN transmembrane channel-like 6 744 Lumenal (Potential). endoplasmic reticulum membrane|integral to membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) TGCGCTGGCCCCGCACCACCT 0.682 NA Epidermodysplasia_Verruciformis_Familial_Clustering_of 9 17 3.03607e-14 3.98415e-14 0.001368 1 0 METTL4 64863 broad.mit.edu 37 18 2566948 2566948 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:2566948G>A uc002klh.3 - 2 1048 c.268C>T c.(268-270)CCT>TCT p.P90S NM_022840 NP_073751 Q8N3J2 METL4_HUMAN methyltransferase like 4 90 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding kidney(1)|skin(1) 2 AACAGTTCAGGTCGAAAAACA 0.368 NA 50 219 0 0 0.00361 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891215 2891215 + Nonsense_Mutation SNP G G T rs150535335 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:2891215G>T uc002kln.2 + 4 1249 c.1090G>T c.(1090-1092)GGA>TGA p.G364* NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 364 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CAGCTACCTGGGAGTGATAGA 0.522 NA 12 39 0.000219431 0.000239864 0.00245 1 0 NPC1 4864 broad.mit.edu 37 18 21140248 21140248 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:21140248G>A uc002kum.3 - 6 1102 c.828C>T c.(826-828)TAC>TAT p.Y276Y NPC1_uc010xaz.1_Silent_p.Y60Y|NPC1_uc010xba.1_Silent_p.Y121Y NM_000271 NP_000262 O15118 NPC1_HUMAN Niemann-Pick disease, type C1 precursor 276 Helical; (Potential). autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm hedgehog receptor activity|protein binding|sterol transporter activity ovary(2) 2 all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127) AAAACGCCATGTAGGTGATCC 0.507 NA 12 207 0 0 0.001855 0 0 SETBP1 26040 broad.mit.edu 37 18 42533086 42533086 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:42533086A>G uc010dni.2 + 4 4077 c.3781A>G c.(3781-3783)AAA>GAA p.K1261E NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1261 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CTCATGCACGAAAAGATACTC 0.537 NA Schinzel-Giedion_syndrome 4 95 0 0 0.001984 0 0 SETBP1 26040 broad.mit.edu 37 18 42533120 42533120 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:42533120G>C uc010dni.2 + 4 4111 c.3815G>C c.(3814-3816)AGC>ACC p.S1272T NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1272 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GATGGTGGCAGCACGAGATCA 0.532 NA Schinzel-Giedion_syndrome 33 105 0 0 0.002836 0 0 MAPK4 5596 broad.mit.edu 37 18 48190638 48190638 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:48190638G>A uc002lev.2 + 2 1310 c.310G>A c.(310-312)GTC>ATC p.V104I MAPK4_uc010xdm.1_Intron|MAPK4_uc010doz.2_Missense_Mutation_p.V104I NM_002747 NP_002738 P31152 MK04_HUMAN mitogen-activated protein kinase 4 104 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(2) 6 Colorectal(6;0.0297) Colorectal(21;0.156) GGCGTACATCGTCCAGGAGTA 0.612 NA 19 200 0 0 0.008871 0 0 DCC 1630 broad.mit.edu 37 18 50683801 50683801 + Missense_Mutation SNP G G A rs138053380 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:50683801G>A uc002lfe.1 + 8 1924 c.1337G>A c.(1336-1338)CGT>CAT p.R446H DCC_uc010xdr.1_Missense_Mutation_p.R294H|DCC_uc010dpf.1_Missense_Mutation_p.R101H NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 446 Extracellular (Potential).|Fibronectin type-III 1. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) CGATTTGTCCGTCTCAGCTGG 0.517 NA 13 521 0 0 0.00245 0 0 ALPK2 115701 broad.mit.edu 37 18 56203934 56203934 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:56203934G>T uc002lhj.3 - 5 3699 c.3485C>A c.(3484-3486)GCT>GAT p.A1162D ALPK2_uc002lhk.1_Missense_Mutation_p.A493D NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1162 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CTCTTGTGCAGCAGATGTCGT 0.577 NA 21 76 2.81731e-10 3.44197e-10 0.002096 1 0 ALPK2 115701 broad.mit.edu 37 18 56247124 56247124 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:56247124G>C uc002lhj.3 - 4 1098 c.884C>G c.(883-885)CCC>CGC p.P295R NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 295 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CTGTGGGCTGGGTTGTTTGTT 0.488 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 111 0 0 0.001984 0 0 KIAA1468 57614 broad.mit.edu 37 18 59942667 59942667 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:59942667T>A uc002lil.2 + 22 3143 c.2928T>A c.(2926-2928)ACT>ACA p.T976T KIAA1468_uc002lik.1_Silent_p.T972T|KIAA1468_uc010xel.1_Silent_p.T976T|KIAA1468_uc002lim.2_Silent_p.T654T NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 976 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TTGTCCATACTTCAGCACTCG 0.363 NA 39 102 0 0 0.00361 0 0 SERPINB12 89777 broad.mit.edu 37 18 61231212 61231212 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:61231212T>A uc010xen.1 + 5 504 c.504T>A c.(502-504)GGT>GGA p.G168G SERPINB12_uc010xeo.1_Silent_p.G188G NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 168 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 TTTTTTTAGGTAAAATCAAGG 0.308 NA 32 429 0 0 0.007835 0 0 CCDC102B 79839 broad.mit.edu 37 18 66564585 66564585 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:66564585G>C uc002lkk.2 + 8 1406 c.1183G>C c.(1183-1185)GAT>CAT p.D395H CCDC102B_uc002lki.2_Missense_Mutation_p.D395H|CCDC102B_uc002lkj.1_Missense_Mutation_p.D395H NM_001093729 NP_001087198 Q68D86 C102B_HUMAN coiled-coil domain containing 102B 395 Potential. ovary(1)|lung(1)|skin(1) 3 Esophageal squamous(42;0.0559)|Colorectal(73;0.0604) AGAGCTTTTGGATAAGAAAAA 0.408 NA 8 104 0 0 0.004482 0 0 RTTN 25914 broad.mit.edu 37 18 67718658 67718658 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:67718658G>A uc002lkp.2 - 39 5380 c.5312C>T c.(5311-5313)ACA>ATA p.T1771I RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.T859I|RTTN_uc010dqp.2_Missense_Mutation_p.T23I NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 1771 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) AATCGCCGCTGTCCAGTGCTT 0.453 NA 13 429 0 0 0.008871 0 0 NETO1 81832 broad.mit.edu 37 18 70423369 70423369 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:70423369G>T uc002lkw.2 - 8 1166 c.882C>A c.(880-882)GGC>GGA p.G294G NETO1_uc002lkx.1_Silent_p.G293G|NETO1_uc002lky.1_Silent_p.G294G NM_138966 NP_620416 Q8TDF5 NETO1_HUMAN neuropilin- and tolloid-like protein 1 isoform 3 294 LDL-receptor class A.|Extracellular (Potential). memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity ovary(2)|skin(2) 4 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) AGAATGTGTTGCCTTCACAAG 0.343 NA 90 298 8.2166e-39 1.36732e-38 0.00361 1 0 ZNF236 7776 broad.mit.edu 37 18 74617253 74617253 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:74617253G>T uc002lmi.2 + 13 2371 c.2173G>T c.(2173-2175)GGT>TGT p.G725C ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 725 C2H2-type 16. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) TTTCACTACTGGTGGCAGCTT 0.438 NA 4 63 3.59834e-05 3.98177e-05 0.001168 1 0 ZNF236 7776 broad.mit.edu 37 18 74672732 74672732 + Nonsense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:74672732C>G uc002lmi.2 + 30 5532 c.5334C>G c.(5332-5334)TAC>TAG p.Y1778* ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 1778 C2H2-type 30. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGCGGCCCTACAAGTGTGCCT 0.587 NA 4 95 0 0 0.000602 0 0 MUC16 94025 broad.mit.edu 37 19 9047921 9047921 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:9047921G>T uc002mkp.2 - 5 33914 c.33710C>A c.(33709-33711)TCA>TAA p.S11237* NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 11239 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 AGCGACCCATGAGTCTATGGT 0.483 NA 49 211 6.60958e-23 9.80542e-23 0.00361 1 0 QTRT1 81890 broad.mit.edu 37 19 10822872 10822872 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:10822872G>C uc002mpr.2 + 6 707 c.682G>C c.(682-684)GGG>CGG p.G228R DNM2_uc010dxk.2_5'Flank NM_031209 NP_112486 Q9BXR0 TGT_HUMAN queuine tRNA-ribosyltransferase 1 228 queuosine biosynthetic process mitochondrion|nucleus|ribosome metal ion binding|queuine tRNA-ribosyltransferase activity skin(1) 1 Epithelial(33;1.55e-05)|all cancers(31;3.42e-05) CTTCGCCATCGGGGGCCTGAG 0.617 NA 10 13 0 0 0.00245 0 0 IL27RA 9466 broad.mit.edu 37 19 14153294 14153294 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:14153294G>T uc002mxx.2 + 5 987 c.564G>T c.(562-564)CTG>CTT p.L188L NM_004843 NP_004834 Q6UWB1 I27RA_HUMAN class I cytokine receptor precursor 188 Extracellular (Potential).|Fibronectin type-III 1. cell surface receptor linked signaling pathway|immune response integral to plasma membrane transmembrane receptor activity 0 CCATACCCCTGACCCCTGTTG 0.542 Colon(164;1849 1896 4443 37792 47834) NA OREG0025302 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 71 4.26978e-12 5.41239e-12 0.00333 1 0 CYP4F3 4051 broad.mit.edu 37 19 15759996 15759996 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:15759996G>T uc002nbj.2 + 6 602 c.552G>T c.(550-552)GAG>GAT p.E184D CYP4F3_uc010xok.1_Missense_Mutation_p.E184D|CYP4F3_uc010xol.1_Missense_Mutation_p.E184D|CYP4F3_uc010xom.1_Missense_Mutation_p.E35D|CYP4F3_uc002nbk.2_Missense_Mutation_p.E184D|CYP4F3_uc010xon.1_5'Flank NM_000896 NP_000887 Q08477 CP4F3_HUMAN cytochrome P450, family 4, subfamily F, 184 EGS -> KGY (in Ref. 3; AAC08589). leukotriene metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding ovary(3) 3 TGGCCTCAGAGGGTAGTGCCC 0.557 NA 55 166 4.10029e-35 6.63915e-35 0.00361 1 0 CYP4F12 66002 broad.mit.edu 37 19 15794437 15794437 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:15794437G>A uc002nbl.2 + 7 843 c.782G>A c.(781-783)CGC>CAC p.R261H NM_023944 NP_076433 cytochrome P450, family 4, subfamily F, skin(3)|ovary(2)|central_nervous_system(2) 7 Acute lymphoblastic leukemia(2;0.0367) AGGGCCTGCCGCCTGGTGCAT 0.552 NA 11 197 0 0 0.003163 0 0 USHBP1 83878 broad.mit.edu 37 19 17373540 17373540 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:17373540C>T uc002nfs.1 - 4 576 c.463G>A c.(463-465)GGG>AGG p.G155R USHBP1_uc002nft.1_RNA|USHBP1_uc010xpk.1_Missense_Mutation_p.G91R|USHBP1_uc010eam.1_Missense_Mutation_p.G83R NM_031941 NP_114147 Q8N6Y0 USBP1_HUMAN Usher syndrome 1C binding protein 1 155 PDZ domain binding ovary(1) 1 CCTGCTCCCCCTTCGCTTGTG 0.687 NA 25 10 0 0 0.009535 0 0 CD22 933 broad.mit.edu 37 19 35836516 35836516 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:35836516C>A uc010edt.2 + 12 2297 c.2220C>A c.(2218-2220)GCC>GCA p.A740A CD22_uc010xst.1_Silent_p.A568A|CD22_uc010edu.2_Silent_p.A652A|CD22_uc010edv.2_Intron|CD22_uc002nzb.3_Silent_p.A563A|CD22_uc010edx.2_RNA NM_001771 NP_001762 P20273 CD22_HUMAN CD22 molecule precursor 740 Cytoplasmic (Potential). cell adhesion protein binding|sugar binding ovary(5)|lung(3)|breast(1) 9 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) TTAGAAGGGCCCCCCTCTCTG 0.582 Ovarian(42;1009 1133 23674 26041) NA 22 21 9.90768e-06 1.11345e-05 0.004656 1 0 ATP4A 495 broad.mit.edu 37 19 36044671 36044671 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:36044671G>T uc002oal.1 - 17 2571 c.2542C>A c.(2542-2544)CGC>AGC p.R848S ATP4A_uc010eee.1_Missense_Mutation_p.R6S NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 848 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) TTTGGGTTGCGTGGACGCAGG 0.607 NA 4 16 1.23904e-05 1.38814e-05 0.000602 1 0 DLL3 10683 broad.mit.edu 37 19 39989617 39989617 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:39989617G>T uc002olx.2 + 1 61 c.3G>T c.(1-3)ATG>ATT p.M1I DLL3_uc010egq.2_Missense_Mutation_p.M1I|DLL3_uc002olw.2_Missense_Mutation_p.M1I NM_016941 NP_058637 Q9NYJ7 DLL3_HUMAN delta-like 3 protein isoform 1 precursor 1 Notch signaling pathway|skeletal system development integral to membrane Notch binding central_nervous_system(2)|breast(1) 3 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGAAGGCCATGGTCTCCCCAC 0.642 NA 5 28 0.000602214 0.000648446 0.000602 1 0 FCGBP 8857 broad.mit.edu 37 19 40433455 40433455 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:40433455G>T uc002omp.3 - 2 822 c.814C>A c.(814-816)CAG>AAG p.Q272K NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 272 IgGFc-binding. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTTGTGGCCTGGCTGGCCACA 0.602 NA 13 49 3.45872e-05 3.83513e-05 0.004007 1 0 ATP1A3 478 broad.mit.edu 37 19 42471882 42471882 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:42471882C>A uc002osg.2 - 21 3007 c.2853G>T c.(2851-2853)GAG>GAT p.E951D ATP1A3_uc010xwf.1_Missense_Mutation_p.E962D|ATP1A3_uc010xwg.1_Missense_Mutation_p.E921D|ATP1A3_uc010xwh.1_Missense_Mutation_p.E964D|ATP1A3_uc002osh.2_Missense_Mutation_p.E951D NM_152296 NP_689509 P13637 AT1A3_HUMAN Na+/K+ -ATPase alpha 3 subunit 951 Helical; (Potential). ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity ovary(1)|pancreas(1) 2 CCAGGGCCGTCTCCTCAAACA 0.667 NA 9 28 1.05317e-09 1.27086e-09 0.00245 1 0 PSG7 5676 broad.mit.edu 37 19 43430713 43430713 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:43430713G>A uc002ovl.3 - 5 967 c.865C>T c.(865-867)CGC>TGC p.R289C PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.R167C NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 289 Ig-like C2-type 2. female pregnancy extracellular region 0 Prostate(69;0.00682) TTTTCAATGCGTCGCTTTACC 0.493 NA 86 453 0 0 0.00361 0 0 ZNF285 26974 broad.mit.edu 37 19 44891467 44891467 + Nonsense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:44891467T>A uc002ozd.3 - 4 1027 c.940A>T c.(940-942)AAA>TAA p.K314* ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Nonsense_Mutation_p.K321* NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 314 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 TTGTAGGGTTTGTCTCCTGAG 0.502 NA 17 132 0 0 0.010504 0 0 SULT2A1 6822 broad.mit.edu 37 19 48377943 48377943 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:48377943A>T uc002phr.2 - 5 856 c.716T>A c.(715-717)GTA>GAA p.V239E NM_003167 NP_003158 Q06520 ST2A1_HUMAN bile-salt sulfotransferase 2A1 239 3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process cytosol bile-salt sulfotransferase activity ovary(1)|pancreas(1) 2 all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552) TTTGTCCACTACATAATCAAC 0.403 NA 31 84 0 0 0.005524 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945446 48945446 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:48945446T>A uc002pjc.3 + 12 2568 c.2480T>A c.(2479-2481)ATC>AAC p.I827N GRIN2D_uc010elx.2_Missense_Mutation_p.I62N NM_000836 NP_000827 O15399 NMDE4_HUMAN N-methyl-D-aspartate receptor subunit 2D 827 Extracellular (Potential). cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding ovary(3)|breast(3) 6 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) CTCTCTGGGATCTGCCACAAT 0.567 NA 17 55 0 0 0.008871 0 0 TRPM4 54795 broad.mit.edu 37 19 49704042 49704042 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:49704042G>T uc002pmw.2 + 19 3025 c.2953G>T c.(2953-2955)GTG>TTG p.V985L TRPM4_uc010emu.2_Missense_Mutation_p.V840L|TRPM4_uc010yak.1_Missense_Mutation_p.V449L|TRPM4_uc002pmx.2_Missense_Mutation_p.V811L|TRPM4_uc010emv.2_Missense_Mutation_p.V870L|TRPM4_uc010yal.1_Missense_Mutation_p.V631L|TRPM4_uc002pmy.2_Missense_Mutation_p.V327L NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, 985 Selectivity filter. EDMDVA->TIIDGP: Induces a functional channel that combines the gating hallmarks of TRPM4 (activation by Ca(2+)) with TRPV6-like sensitivity to block by extracellular Ca(2+) and Mg(2+) as well as Ca(2+) permeation. dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding ovary(1)|central_nervous_system(1) 2 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGACATGGACGGTAGGGGGGA 0.592 NA 7 15 0.000442599 0.000479446 0.006214 1 0 IRF3 3661 broad.mit.edu 37 19 50163052 50163052 + Silent SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:50163052G>C uc010end.1 - 8 1519 c.1137C>G c.(1135-1137)GCC>GCG p.A379A IRF3_uc002pos.1_RNA|IRF3_uc002pot.1_Silent_p.A252A|IRF3_uc002pox.1_Missense_Mutation_p.P341A|IRF3_uc002poy.1_Silent_p.A379A|IRF3_uc002pou.2_Silent_p.A379A|IRF3_uc002pov.2_Silent_p.A233A|IRF3_uc002pow.2_Missense_Mutation_p.P385A NM_001571 NP_001562 Q14653 IRF3_HUMAN interferon regulatory factor 3 379 interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|endosome membrane|nucleoplasm|plasma membrane DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(2) 2 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02) CCCCTACCCGGGCCATTTCTA 0.607 NA 3 23 0 0 0.009096 0 0 MYH14 79784 broad.mit.edu 37 19 50779265 50779265 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:50779265G>C uc002prr.1 + 26 3409 c.3362G>C c.(3361-3363)GGG>GCG p.G1121A MYH14_uc010enu.1_Missense_Mutation_p.G1162A|MYH14_uc002prq.1_Missense_Mutation_p.G1129A NM_024729 NP_079005 Q7Z406 MYH14_HUMAN myosin, heavy chain 14 isoform 2 1121 Potential. axon guidance|regulation of cell shape myosin complex actin binding|ATP binding|calmodulin binding|motor activity central_nervous_system(1) 1 all_neural(266;0.0571)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195) GACGAGGGTGGGGCCCGGGCC 0.647 NA 3 14 0 0 0.004672 0 0 KLK4 9622 broad.mit.edu 37 19 51412025 51412025 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:51412025C>A uc002pua.1 - 3 285 c.285G>T c.(283-285)CAG>CAT p.Q95H KLK4_uc002pty.1_Missense_Mutation_p.Q46H|KLK4_uc002ptz.1_RNA|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_RNA|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'UTR NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN kallikrein-related peptidase 4 preproprotein 95 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) CCTCCACCATCTGGCTCCCTG 0.597 NA 61 129 4.88506e-25 7.42034e-25 0.00361 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51630332 51630332 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:51630332G>T uc002pvu.2 + 4 861 c.794G>T c.(793-795)GGC>GTC p.G265V SIGLEC9_uc010yct.1_Missense_Mutation_p.G265V NM_014441 NP_055256 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 precursor 265 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CTCCCAGAGGGCCAGTCTCTG 0.443 NA 50 86 1.40369e-38 2.3287e-38 0.00361 1 0 IGLON5 402665 broad.mit.edu 37 19 51828677 51828677 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:51828677G>T uc002pwc.2 + 4 469 c.469G>T c.(469-471)GTG>TTG p.V157L NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 157 Ig-like C2-type 2. extracellular region 0 TTGCCTGGCCGTGGGGCGGCC 0.667 NA 11 20 6.72482e-11 8.32891e-11 0.003163 1 0 SIGLEC10 89790 broad.mit.edu 37 19 51914385 51914385 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:51914385G>A uc002pwo.2 - 11 2678 c.2062C>T c.(2062-2064)CAG>TAG p.Q688* SIGLEC10_uc002pwp.2_Nonsense_Mutation_p.Q630*|SIGLEC10_uc002pwq.2_Nonsense_Mutation_p.Q535*|SIGLEC10_uc002pwr.2_Nonsense_Mutation_p.Q593*|SIGLEC10_uc010ycy.1_Nonsense_Mutation_p.Q503*|SIGLEC10_uc010ycz.1_Nonsense_Mutation_p.Q545*|SIGLEC10_uc010eow.2_Nonsense_Mutation_p.Q405* NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 688 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) TAATCCGCCTGGGTGCCCTTG 0.562 NA 30 24 0 0 0.009535 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961521 51961521 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:51961521G>T uc002pwt.2 - 1 188 c.121C>A c.(121-123)CTG>ATG p.L41M SIGLEC8_uc010yda.1_Missense_Mutation_p.L41M|SIGLEC8_uc002pwu.2_RNA|SIGLEC8_uc010eox.2_Missense_Mutation_p.L41M NM_014442 NP_055257 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 precursor 41 Ig-like V-type.|Extracellular (Potential). cell adhesion integral to membrane sugar binding|transmembrane receptor activity ovary(2)|kidney(1)|central_nervous_system(1)|skin(1) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGACACACAGGCCCTCCTGC 0.552 NA 37 136 2.24893e-16 3.0706e-16 0.009718 1 0 CEACAM18 729767 broad.mit.edu 37 19 51986279 51986279 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:51986279G>C uc002pwv.1 + 5 865 c.865G>C c.(865-867)GAC>CAC p.D289H NM_001080405 NP_001073874 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion 289 Ig-like C2-type. integral to membrane skin(1) 1 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AGATGGGCCCGACTATGTGCT 0.552 NA 76 214 0 0 0.00361 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52719903 52719903 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:52719903A>T uc002pyp.2 + 9 1274 c.1115A>T c.(1114-1116)CAG>CTG p.Q372L PPP2R1A_uc010ydk.1_Missense_Mutation_p.Q317L|PPP2R1A_uc010epm.1_Missense_Mutation_p.Q412L|PPP2R1A_uc002pyq.2_Missense_Mutation_p.Q193L NM_014225 NP_055040 P30153 2AAA_HUMAN alpha isoform of regulatory subunit A, protein 372 PP2A subunit B binding.|HEAT 10. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity endometrium(31)|ovary(28)|lung(2)|breast(2)|skin(1)|kidney(1)|pancreas(1) 66 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) TTCCTGGCTCAGCTGAAGGAT 0.552 NA Mis clear cell ovarian carcinoma 28 77 0 0 0.003271 0 0 TFPT 29844 broad.mit.edu 37 19 54618637 54618637 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:54618637G>C uc010yej.1 - 1 419 c.13C>G c.(13-15)CAG>GAG p.Q5E TFPT_uc010erd.2_Missense_Mutation_p.Q5E|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank NM_013342 NP_037474 P0C1Z6 TFPT_HUMAN TCF3 (E2A) fusion partner 5 apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex DNA binding|protein binding 0 all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19) CCTTCTCTCTGCTCCAATTCC 0.522 NA T TCF3 pre-B ALL OREG0003635|OREG0003633 type=REGULATORY REGION|Gene=PRPF31|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|Gene=TFPT|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 35 0 0 0.008291 0 0 LILRB1 10859 broad.mit.edu 37 19 55146212 55146212 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:55146212C>A uc002qgj.2 + 11 1821 c.1481C>A c.(1480-1482)TCG>TAG p.S494* LILRB1_uc010erp.1_Nonsense_Mutation_p.S109*|LILRB1_uc002qgl.2_Nonsense_Mutation_p.S494*|LILRB1_uc002qgk.2_Nonsense_Mutation_p.S495*|LILRB1_uc002qgm.2_Nonsense_Mutation_p.S495*|LILRB1_uc010erq.2_Nonsense_Mutation_p.S478*|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 494 Cytoplasmic (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) CACTGGACATCGAGTGAGTAG 0.453 NA HNSCC(37;0.09) 74 178 5.82064e-54 1.03223e-53 0.00361 1 0 NLRP2 55655 broad.mit.edu 37 19 55497607 55497607 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:55497607G>T uc002qij.2 + 8 2376 c.2290G>T c.(2290-2292)GGC>TGC p.G764C NLRP2_uc010yfp.1_Missense_Mutation_p.G741C|NLRP2_uc010esn.2_Missense_Mutation_p.G740C|NLRP2_uc010eso.2_Missense_Mutation_p.G761C|NLRP2_uc010esp.2_Missense_Mutation_p.G742C NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 764 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACCCTTCAAGGCAATGACCA 0.443 NA 17 38 6.94344e-10 8.41629e-10 0.006122 1 0 NLRP4 147945 broad.mit.edu 37 19 56369376 56369376 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:56369376C>A uc002qmd.3 + 3 1039 c.617C>A c.(616-618)TCC>TAC p.S206Y NLRP4_uc002qmf.2_Missense_Mutation_p.S131Y|NLRP4_uc010etf.2_Missense_Mutation_p.S37Y NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 206 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GACTTGATTTCCAGAGAGTGG 0.532 NA 28 120 4.74835e-14 6.22357e-14 0.002096 1 0 NLRP4 147945 broad.mit.edu 37 19 56370026 56370026 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:56370026G>T uc002qmd.3 + 3 1689 c.1267G>T c.(1267-1269)GGG>TGG p.G423W NLRP4_uc002qmf.2_Missense_Mutation_p.G348W|NLRP4_uc010etf.2_Missense_Mutation_p.G254W NM_134444 NP_604393 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 423 NACHT. ATP binding ovary(5)|skin(4)|lung(3)|upper_aerodigestive_tract(1)|kidney(1)|pancreas(1) 15 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCGGAGAAATGGGGTTGTTGA 0.562 NA 37 148 1.32136e-16 1.8133e-16 0.00874 1 0 ZNF419 79744 broad.mit.edu 37 19 58005013 58005013 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:58005013G>A uc002qov.2 + 5 1328 c.1088G>A c.(1087-1089)CGT>CAT p.R363H ZNF547_uc002qpm.3_Intron|ZNF419_uc010ety.1_Missense_Mutation_p.R364H|ZNF419_uc010etz.1_Missense_Mutation_p.R351H|ZNF419_uc010eua.1_Missense_Mutation_p.R350H|ZNF419_uc002qow.2_Missense_Mutation_p.R331H|ZNF419_uc010eub.1_Missense_Mutation_p.R318H|ZNF419_uc010euc.1_Missense_Mutation_p.R317H NM_024691 NP_078967 Q96HQ0 ZN419_HUMAN zinc finger protein 419 isoform 2 363 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171) AAACATTGGCGTGTTCATACT 0.413 NA 4 105 0 0 0.009096 0 0 TPO 7173 broad.mit.edu 37 2 1544403 1544403 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:1544403G>A uc002qww.2 + 16 2747 c.2656G>A c.(2656-2658)GAG>AAG p.E886K TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.E829K|TPO_uc002qwr.2_Missense_Mutation_p.E886K|TPO_uc002qwx.2_Missense_Mutation_p.E829K|TPO_uc010yio.1_Missense_Mutation_p.E713K|TPO_uc010yip.1_Missense_Mutation_p.E842K|TPO_uc002qwy.1_Missense_Mutation_p.E182K|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 886 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GCCCATCTCGGAGACAGGCGG 0.642 NA 10 55 0 0 0.000978 0 0 TRIB2 28951 broad.mit.edu 37 2 12880889 12880890 + Missense_Mutation DNP TG TG AT TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:12880889_12880890TG>AT uc002rbv.3 + 3 2437_2438 c.1001_1002TG>AT c.(1000-1002)ATG>AAT p.M334N TRIB2_uc010yjp.1_Missense_Mutation_p.M198N NM_021643 NP_067675 Q92519 TRIB2_HUMAN tribbles homolog 2 334 negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity cytoplasm|cytoskeleton|nucleus ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity stomach(1) 1 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) GACGTCAACATGGAAGAGAACT 0.515 NA 49 180 0 0 0.004672 0 0 NBAS 51594 broad.mit.edu 37 2 15417226 15417226 + Splice_Site SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:15417226C>A uc002rcc.1 - 43 5165 c.5139_splice c.e43-1 p.G1713_splice NBAS_uc010exl.1_Splice_Site_p.G785_splice|NBAS_uc002rcd.1_Splice_Site NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein ovary(2)|liver(1)|skin(1) 4 TGTGGACAAACTGAAATTAAG 0.358 NA 10 79 0.000151284 0.000166044 0.001855 1 0 NBAS 51594 broad.mit.edu 37 2 15468435 15468435 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:15468435C>A uc002rcc.1 - 37 4375 c.4349G>T c.(4348-4350)GGG>GTG p.G1450V NBAS_uc010exl.1_Missense_Mutation_p.G522V|NBAS_uc002rcd.1_RNA NM_015909 NP_056993 A2RRP1 NBAS_HUMAN neuroblastoma-amplified protein 1450 ovary(2)|liver(1)|skin(1) 4 ACATTTTTGCCCCTaaaaaga 0.209 NA 78 457 8.60386e-38 1.423e-37 0.00361 1 0 VSNL1 7447 broad.mit.edu 37 2 17836616 17836616 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:17836616C>A uc002rcm.2 + 4 915 c.531C>A c.(529-531)AGC>AGA p.S177R NM_003385 NP_003376 P62760 VISL1_HUMAN visinin-like 1 177 EF-hand 4. calcium ion binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CTGCAAAGAGCGACCCTTCCA 0.443 NA 35 318 6.07928e-31 9.65532e-31 0.009718 1 0 PUM2 23369 broad.mit.edu 37 2 20482749 20482749 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:20482749C>T uc002rds.1 - 11 1702 c.1679G>A c.(1678-1680)GGT>GAT p.G560D PUM2_uc002rdt.1_Missense_Mutation_p.G560D|PUM2_uc002rdr.2_Missense_Mutation_p.G499D|PUM2_uc010yjy.1_Missense_Mutation_p.G560D|PUM2_uc002rdu.1_Missense_Mutation_p.G560D|PUM2_uc010yjz.1_Missense_Mutation_p.G499D NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 560 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATAGCAGCACCCAAAGAGTT 0.428 NA 20 84 0 0 0.002299 0 0 APOB 338 broad.mit.edu 37 2 21239499 21239499 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:21239499G>T uc002red.2 - 21 3272 c.3144C>A c.(3142-3144)ACC>ACA p.T1048T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1048 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGAATGTCATGGTAGCCTCAG 0.373 NA 29 250 2.48696e-23 3.69452e-23 0.003271 1 0 APOB 338 broad.mit.edu 37 2 21245902 21245902 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:21245902G>T uc002red.2 - 18 2745 c.2617C>A c.(2617-2619)CTG>ATG p.L873M NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 873 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTTGCCACCAGTTCAGCCTGC 0.473 NA 10 103 9.31168e-06 1.04756e-05 0.001855 1 0 SLC30A3 7781 broad.mit.edu 37 2 27481082 27481082 + Nonsense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:27481082C>T uc002rjk.2 - 3 557 c.371G>A c.(370-372)TGG>TAG p.W124* SLC30A3_uc002rjj.2_5'UTR|SLC30A3_uc010ylh.1_Nonsense_Mutation_p.W119* NM_003459 NP_003450 Q99726 ZNT3_HUMAN solute carrier family 30 (zinc transporter), 124 Helical; (Potential). regulation of sequestering of zinc ion cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane zinc transporting ATPase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGTGGAGAGCCAGAGGGAGAA 0.637 NA 7 22 0 0 0.004482 0 0 BRE 9577 broad.mit.edu 37 2 28464261 28464261 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:28464261G>T uc002rlr.2 + 10 1169 c.851_splice c.e10+1 p.T284_splice BRE_uc002rlp.1_Splice_Site_p.T284_splice|BRE_uc002rlq.2_Splice_Site_p.T284_splice|BRE_uc002rls.2_Splice_Site_p.T284_splice|BRE_uc002rlt.2_Splice_Site_p.T284_splice|BRE_uc002rlu.2_Splice_Site_p.T284_splice|BRE_uc002rlv.2_Splice_Site_p.T146_splice NM_199194 NP_954664 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding lung(1)|kidney(1)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) ACTTTGGCACGTAAGTTCTGC 0.438 NA 14 189 1.33834e-09 1.61138e-09 0.007413 1 0 PLB1 151056 broad.mit.edu 37 2 28855858 28855858 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:28855858C>A uc002rmb.1 + 56 4050 c.4050C>A c.(4048-4050)TTC>TTA p.F1350L PLB1_uc010ezj.1_Missense_Mutation_p.F1339L|PLB1_uc002rme.1_Missense_Mutation_p.F315L|PLB1_uc002rmf.1_RNA NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 1350 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GTTTTCACTTCTCAGACCGCG 0.562 NA 30 264 1.69901e-12 2.17409e-12 0.005524 1 0 PLB1 151056 broad.mit.edu 37 2 28855888 28855888 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:28855888C>T uc002rmb.1 + 56 4080 c.4080C>T c.(4078-4080)ATC>ATT p.I1360I PLB1_uc010ezj.1_Silent_p.I1349I|PLB1_uc002rme.1_Silent_p.I325I|PLB1_uc002rmf.1_RNA NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 1360 4 X 308-326 AA approximate repeats.|Extracellular (Potential).|4. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) AGATGGCCATCGCACTCTGGA 0.547 NA 30 196 0 0 0.003271 0 0 ALK 238 broad.mit.edu 37 2 29551271 29551271 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:29551271C>A uc002rmy.2 - 6 2266 c.1359G>T c.(1357-1359)CAG>CAT p.Q453H NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 453 LDL-receptor class A.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AGTCACAGGCCTGCCCAAGCT 0.607 NA T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 12 116 2.80697e-09 3.36837e-09 0.000978 1 0 NLRC4 58484 broad.mit.edu 37 2 32477681 32477681 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:32477681G>T uc002roi.2 - 3 315 c.69C>A c.(67-69)ATC>ATA p.I23I NLRC4_uc002roj.1_Silent_p.I23I|NLRC4_uc010ezt.1_Silent_p.I23I NM_021209 NP_067032 Q9NPP4 NLRC4_HUMAN caspase recruitment domain protein 12 23 LRR 1.|CARD. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity ovary(3)|large_intestine(1)|lung(1)|skin(1) 6 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GGTCATCTGTGATTTGCTTTA 0.393 NA 112 317 6.14176e-70 1.1476e-69 0.00361 1 0 LTBP1 4052 broad.mit.edu 37 2 33359928 33359928 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:33359928G>T uc002ros.2 + 5 1102 c.1102G>T c.(1102-1104)GGC>TGC p.G368C LTBP1_uc002rot.2_Missense_Mutation_p.G42C|LTBP1_uc002rou.2_Missense_Mutation_p.G42C|LTBP1_uc002rov.2_Missense_Mutation_p.G42C|LTBP1_uc010ymz.1_Missense_Mutation_p.G42C|LTBP1_uc010yna.1_Missense_Mutation_p.G42C NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 368 negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGCACCAAGGGCAGCTGTCA 0.547 NA 67 192 6.5469e-37 1.07457e-36 0.00361 1 0 LRPPRC 10128 broad.mit.edu 37 2 44145419 44145419 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:44145419C>G uc002rtr.2 - 28 3073 c.3015G>C c.(3013-3015)CAG>CAC p.Q1005H LRPPRC_uc010yob.1_Missense_Mutation_p.Q905H NM_133259 NP_573566 P42704 LPPRC_HUMAN leucine-rich PPR motif-containing protein 1005 mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm beta-tubulin binding|microtubule binding|RNA binding ovary(2)|skin(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) ACGGAACTTCCTGGTTACCCT 0.338 NA 33 121 0 0 0.00361 0 0 LHCGR 3973 broad.mit.edu 37 2 48941147 48941147 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:48941147T>G uc002rwu.3 - 7 653 c.583A>C c.(583-585)AAT>CAT p.N195H GTF2A1L_uc002rwt.2_Intron|LHCGR_uc002rwv.2_RNA NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 195 LRR 4.|Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTCGTCCCATTGAATGCATGA 0.378 NA Familial_Male-Limited_Precocious_Puberty 22 198 0 0 0.007291 0 0 SPTBN1 6711 broad.mit.edu 37 2 54893182 54893182 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:54893182G>T uc002rxu.2 + 34 7039 c.6790G>T c.(6790-6792)GTG>TTG p.V2264L SPTBN1_uc010you.1_Missense_Mutation_p.V254L NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 2264 PH. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) TGTCTGCGAAGTGGCCCTTGA 0.468 NA 29 349 3.67414e-24 5.52656e-24 0.002445 1 0 USP34 9736 broad.mit.edu 37 2 61505418 61505418 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:61505418C>A uc002sbe.2 - 41 5337 c.5315G>T c.(5314-5316)AGG>ATG p.R1772M USP34_uc002sbf.2_Translation_Start_Site NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 1772 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) AAGGATCTCCCTACTACAAAA 0.338 NA 27 81 1.61788e-16 2.21178e-16 0.002445 1 0 ARHGAP25 9938 broad.mit.edu 37 2 69049651 69049651 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:69049651C>A uc002seu.2 + 10 1741 c.1377C>A c.(1375-1377)AGC>AGA p.S459R ARHGAP25_uc010fdg.2_Missense_Mutation_p.S460R|ARHGAP25_uc010yql.1_Missense_Mutation_p.S420R|ARHGAP25_uc002sew.2_Missense_Mutation_p.S452R|ARHGAP25_uc002sex.2_Missense_Mutation_p.S453R|ARHGAP25_uc002sey.2_Missense_Mutation_p.S186R NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 459 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GTGCCAACAGCAGCAAAATGG 0.478 NA 26 162 2.47511e-08 2.91825e-08 0.008361 1 0 ALMS1 7840 broad.mit.edu 37 2 73827999 73827999 + Missense_Mutation SNP T T G rs45528134 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:73827999T>G uc002sje.1 + 20 11977 c.11866T>G c.(11866-11868)TCC>GCC p.S3956A ALMS1_uc002sjf.1_Missense_Mutation_p.S3912A|ALMS1_uc002sjh.1_Missense_Mutation_p.S3342A NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3954 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 CAAGAAGAATTCCCATGAAGG 0.403 NA 7 54 0 0 0.001882 0 0 C2orf78 388960 broad.mit.edu 37 2 74043181 74043181 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:74043181C>A uc002sjr.1 + 3 1952 c.1831C>A c.(1831-1833)CAA>AAA p.Q611K NM_001080474 NP_001073943 A6NCI8 CB078_HUMAN hypothetical protein LOC388960 611 Lys-rich. ovary(2) 2 GAAGAAAAATCAACCTGAGCT 0.438 NA 35 118 4.90274e-10 5.96279e-10 0.00623 1 0 LRRTM4 80059 broad.mit.edu 37 2 77745831 77745831 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:77745831G>A uc002snr.2 - 3 1579 c.1164C>T c.(1162-1164)ACC>ACT p.T388T LRRTM4_uc002snq.2_Silent_p.T388T|LRRTM4_uc002sns.2_Silent_p.T388T|LRRTM4_uc002snt.2_Silent_p.T389T NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 388 Extracellular (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GTTTGAAGATGGTAGGTCTAG 0.473 NA 16 58 0 0 0.008871 0 0 REG3A 5068 broad.mit.edu 37 2 79384728 79384728 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:79384728C>T uc002sod.1 - 4 685 c.430G>A c.(430-432)GGC>AGC p.G144S REG3A_uc002soe.1_Missense_Mutation_p.G144S|REG3A_uc002sof.1_Missense_Mutation_p.G144S NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 144 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 GCACAGTGGCCGGGGCTTGAG 0.542 NA 8 233 0 0 0.00308 0 0 REG3A 5068 broad.mit.edu 37 2 79384784 79384784 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:79384784C>A uc002sod.1 - 4 629 c.374G>T c.(373-375)AGT>ATT p.S125I REG3A_uc002soe.1_Missense_Mutation_p.S125I|REG3A_uc002sof.1_Missense_Mutation_p.S125I NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 125 C-type lectin. acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 CATCACATCACTGCTACTCCA 0.542 NA 67 225 1.34568e-36 2.19868e-36 0.00361 1 0 LRRTM1 347730 broad.mit.edu 37 2 80530120 80530120 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:80530120C>A uc002sok.1 - 2 1095 c.825G>T c.(823-825)GTG>GTT p.V275V CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 275 LRR 8.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 CGGTCTCGAACACATGGGGCT 0.582 NA HNSCC(69;0.2) 8 28 0.00448238 0.00470454 0.004482 1 0 CTNNA2 1496 broad.mit.edu 37 2 80816575 80816575 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:80816575G>T uc010ysh.1 + 14 2159 c.2154G>T c.(2152-2154)ATG>ATT p.M718I CTNNA2_uc010yse.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysf.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysg.1_Missense_Mutation_p.M718I|CTNNA2_uc010ysi.1_Missense_Mutation_p.M350I|CTNNA2_uc010ysj.1_Missense_Mutation_p.M47I NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 718 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 CCAAGCAGATGTGTATGATCA 0.458 NA 106 408 3.6033e-41 6.0522e-41 0.00361 1 0 KDM3A 55818 broad.mit.edu 37 2 86678331 86678331 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:86678331A>G uc002sri.3 + 4 775 c.448A>G c.(448-450)ATA>GTA p.I150V KDM3A_uc010ytj.1_Missense_Mutation_p.I150V|KDM3A_uc010ytk.1_Missense_Mutation_p.I98V NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 150 androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 TTTGAAGCCTATACAGGTAAA 0.313 NSCLC(96;1150 1523 6936 46253 49736) NA 7 53 0 0 0.00308 0 0 KDM3A 55818 broad.mit.edu 37 2 86718115 86718115 + Nonsense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:86718115C>T uc002sri.3 + 24 4012 c.3685C>T c.(3685-3687)CAA>TAA p.Q1229* KDM3A_uc010ytj.1_Nonsense_Mutation_p.Q1229*|KDM3A_uc010ytk.1_Nonsense_Mutation_p.Q1177* NM_018433 NP_060903 Q9Y4C1 KDM3A_HUMAN jumonji domain containing 1A 1229 JmjC. androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 5 GTATGGAGTTCAAGGCTGGGC 0.423 NSCLC(96;1150 1523 6936 46253 49736) NA 58 520 0 0 0.00361 0 0 PROM2 150696 broad.mit.edu 37 2 95945675 95945675 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:95945675G>T uc002suh.1 + 11 1490 c.1357G>T c.(1357-1359)GGC>TGC p.G453C PROM2_uc002sui.2_Missense_Mutation_p.G453C|PROM2_uc002suj.2_Missense_Mutation_p.G107C|PROM2_uc002suk.2_Missense_Mutation_p.G453C|PROM2_uc002sul.2_5'UTR|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 453 Cytoplasmic (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GGGCATCTGGGGCCTGTCTGC 0.642 NA 3 26 0.004672 0.00487985 0.004672 1 0 ASTL 431705 broad.mit.edu 37 2 96801117 96801117 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:96801117G>C uc010yui.1 - 3 216 c.216C>G c.(214-216)TTC>TTG p.F72L NM_001002036 NP_001002036 Q6HA08 ASTL_HUMAN astacin-like metalloendopeptidase precursor 72 proteolysis metalloendopeptidase activity|zinc ion binding 0 CCTCGATGAGGAAGCTGCTCT 0.607 NA 4 22 0 0 0.001168 0 0 STARD7 56910 broad.mit.edu 37 2 96858109 96858109 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:96858109C>G uc002svm.3 - 6 1242 c.841G>C c.(841-843)GAG>CAG p.E281Q STARD7_uc002svl.2_Missense_Mutation_p.E59Q NM_020151 NP_064536 Q9NQZ5 STAR7_HUMAN START domain containing 7 precursor 281 START. mitochondrion 0 AAACTCACCTCATCAAATGAC 0.433 NA 78 241 0 0 0.00361 0 0 MRPL30 51263 broad.mit.edu 37 2 99804653 99804653 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:99804653G>T uc002szu.2 + 3 227 c.65G>T c.(64-66)GGT>GTT p.G22V MRPL30_uc002szl.1_RNA|MRPL30_uc002szr.2_Missense_Mutation_p.G22V|MRPL30_uc002szt.1_Intron|MRPL30_uc002szv.2_Missense_Mutation_p.G22V NM_145213 NP_660214 Q8TCC3 RM30_HUMAN RecName: Full=39S ribosomal protein L30, mitochondrial; Short=L30mt; AltName: Full=MRP-L30; AltName: Full=MRP-L28; Flags: Precursor; 22 translation mitochondrion|ribosome structural constituent of ribosome ovary(1) 1 GTGACAAAAGGTGTGGAGTCT 0.313 NA 18 77 7.4402e-23 1.10225e-22 0.003954 1 0 REV1 51455 broad.mit.edu 37 2 100058928 100058928 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:100058928G>C uc002tad.2 - 5 566 c.354C>G c.(352-354)ATC>ATG p.I118M REV1_uc002tac.2_Missense_Mutation_p.I118M|REV1_uc002tae.1_Missense_Mutation_p.I97M NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 118 BRCT. DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 GTCCAGCTTTGATGCTGAAAC 0.413 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 7 228 0 0 0.008291 0 0 SLC5A7 60482 broad.mit.edu 37 2 108604640 108604640 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:108604640C>A uc002tdv.2 + 2 305 c.29C>A c.(28-30)GCT>GAT p.A10D SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.A10D|SLC5A7_uc010ywn.1_Intron NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 10 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) GGACTGATAGCTATCATCGTG 0.443 NA 49 162 7.91745e-34 1.27434e-33 0.00361 1 0 ZC3H6 376940 broad.mit.edu 37 2 113089158 113089158 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:113089158C>G uc002thq.1 + 12 3057 c.2663C>G c.(2662-2664)CCT>CGT p.P888R NM_198581 NP_940983 P61129 ZC3H6_HUMAN zinc finger CCCH-type domain containing 6 888 nucleic acid binding|zinc ion binding ovary(3)|central_nervous_system(1) 4 CTTCCAGTACCTTTACCTAAA 0.403 NA 20 69 0 0 0.001882 0 0 FOXD4L1 200350 broad.mit.edu 37 2 114257955 114257955 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:114257955A>T uc002tjw.3 + 1 1295 c.1122A>T c.(1120-1122)GGA>GGT p.G374G NM_012184 NP_036316 Q9NU39 FX4L1_HUMAN forkhead box D4-like 1 374 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CATCAGGAGGAGGACTGCGCC 0.687 NA 4 49 0 0 0.009096 0 0 CLASP1 23332 broad.mit.edu 37 2 122106236 122106236 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:122106236T>A uc002tnc.2 - 37 4655 c.4265A>T c.(4264-4266)CAG>CTG p.Q1422L CLASP1_uc010yyv.1_Missense_Mutation_p.Q468L|CLASP1_uc002tmz.2_Missense_Mutation_p.Q507L|CLASP1_uc002tna.2_Missense_Mutation_p.Q468L|CLASP1_uc010yyw.1_RNA|CLASP1_uc002tnb.2_RNA|CLASP1_uc010yyx.1_RNA|CLASP1_uc010yyy.1_RNA|CLASP1_uc010yyz.1_Missense_Mutation_p.Q1363L|CLASP1_uc010yza.1_Missense_Mutation_p.Q1355L|CLASP1_uc010yzb.1_RNA|CLASP1_uc010yzc.1_RNA|CLASP1_uc002tmy.2_Missense_Mutation_p.Q258L NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN CLIP-associating protein 1 isoform 1 1422 Localization to kinetochores.|Interaction with PHLDB2 and RSN.|Interaction with CLIP2 (By similarity). axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding ovary(1)|central_nervous_system(1) 2 Renal(3;0.0496) CTTGATGCACTGCTCCGGGTG 0.587 NA 13 60 0 0 0.003163 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951377 130951377 + Missense_Mutation SNP C C G rs148936100 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:130951377C>G uc002tqv.2 - 4 1139 c.1038G>C c.(1036-1038)TGG>TGC p.W346C NM_207312 NP_997195 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 346 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity skin(1) 1 Colorectal(110;0.1) CAGTCGGGCACCAATCCACAA 0.542 NA 3 79 0 0 0.004672 0 0 NCKAP5 344148 broad.mit.edu 37 2 133554252 133554252 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:133554252C>A uc002ttp.2 - 12 1232 c.858G>T c.(856-858)GAG>GAT p.E286D NCKAP5_uc002ttq.2_Missense_Mutation_p.E286D NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 286 protein binding 0 TTCTTTCCACCTCTGAAAGCA 0.408 NA 8 88 0.000673444 0.000722264 0.008291 1 0 R3HDM1 23518 broad.mit.edu 37 2 136393555 136393555 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:136393555A>T uc002tuo.2 + 10 1164 c.794A>T c.(793-795)AAA>ATA p.K265I R3HDM1_uc010fni.2_Missense_Mutation_p.K263I|R3HDM1_uc002tup.2_Missense_Mutation_p.K209I|R3HDM1_uc010zbh.1_Missense_Mutation_p.K97I NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 265 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) AGCTTTGACAAAGATGATAAC 0.323 NA 42 141 0 0 0.00361 0 0 NEB 4703 broad.mit.edu 37 2 152512820 152512820 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:152512820G>A uc010fnx.2 - 49 6533 c.6342C>T c.(6340-6342)CAC>CAT p.H2114H NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 2114 Nebulin 56. 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) CGGCAGGGGTGTGGTAGCTGG 0.478 NA 95 290 0 0 0.00361 0 0 GALNT3 2591 broad.mit.edu 37 2 166606398 166606398 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:166606398C>T uc010fph.1 - 10 2020 c.1633G>A c.(1633-1635)GAA>AAA p.E545K NM_004482 NP_004473 Q14435 GALT3_HUMAN polypeptide N-acetylgalactosaminyltransferase 3 545 Ricin B-type lectin.|Lumenal (Potential). protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding central_nervous_system(2)|ovary(1) 3 GCAGAGTATTCAAAGTACTAT 0.383 NA 16 513 0 0 0.008871 0 0 SCN1A 6323 broad.mit.edu 37 2 166896013 166896013 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:166896013C>A uc010zcz.1 - 14 2494 c.2476G>T c.(2476-2478)GGT>TGT p.G826C SCN1A_uc002udo.3_Missense_Mutation_p.G706C|SCN1A_uc010fpk.2_Missense_Mutation_p.G678C NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 837 II.|Helical; Name=S3 of repeat II; (By similarity). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) ACAATAAAACCGTCAAAGATA 0.363 NA 19 88 7.41877e-09 8.85334e-09 0.001882 1 0 SCN9A 6335 broad.mit.edu 37 2 167133545 167133545 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:167133545T>A uc010fpl.2 - 16 3130 c.2789A>T c.(2788-2790)CAA>CTA p.Q930L uc002udp.2_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha 941 II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|central_nervous_system(5)|skin(2) 13 Lamotrigine(DB00555)|Lidocaine(DB00281) GCACATAGCTTGACCAGCGAC 0.448 NA 108 738 0 0 0.00361 0 0 TTC30B 150737 broad.mit.edu 37 2 178416257 178416257 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:178416257G>A uc002uln.2 - 1 1268 c.1235C>T c.(1234-1236)GCA>GTA p.A412V TTC30B_uc010zfc.1_Missense_Mutation_p.A184V NM_152517 NP_689730 Q8N4P2 TT30B_HUMAN tetratricopeptide repeat domain 30B 412 TPR 5. cell projection organization cilium binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362) TTCATTCACTGCCTTTTTGAT 0.413 NA 10 658 0 0 0.003163 0 0 OSBPL6 114880 broad.mit.edu 37 2 179259071 179259071 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:179259071G>T uc002ulx.2 + 24 2983 c.2605G>T c.(2605-2607)GCA>TCA p.A869S OSBPL6_uc002uly.2_Missense_Mutation_p.A894S|OSBPL6_uc010zfe.1_Missense_Mutation_p.A838S|OSBPL6_uc002ulz.2_Missense_Mutation_p.A833S|OSBPL6_uc002uma.2_Missense_Mutation_p.A873S NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 869 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AGAAGCTGCAGCATCAGAGAA 0.348 NA 59 171 2.72187e-29 4.2727e-29 0.00361 1 0 TTN 7273 broad.mit.edu 37 2 179443719 179443719 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:179443719T>C uc010zfg.1 - 269 60558 c.60334A>G c.(60334-60336)ATC>GTC p.I20112V uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I13807V|TTN_uc010zfi.1_Missense_Mutation_p.I13740V|TTN_uc010zfj.1_Missense_Mutation_p.I13615V|uc002umv.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21039 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) TTCTCTAGGATATAGTTGGTG 0.478 NA 11 86 0 0 0.001368 0 0 TTN 7273 broad.mit.edu 37 2 179592523 179592523 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:179592523C>T uc010zfg.1 - 65 16274 c.16050G>A c.(16048-16050)AAG>AAA p.K5350K TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.K2011K NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6277 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) TTAGTATTGCCTTAAATTCCA 0.373 NA 64 152 0 0 0.00361 0 0 SSFA2 6744 broad.mit.edu 37 2 182784139 182784139 + Missense_Mutation SNP G G T rs150716378 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:182784139G>T uc002uoi.2 + 14 3432 c.3110G>T c.(3109-3111)CGC>CTC p.R1037L SSFA2_uc002uoh.2_Missense_Mutation_p.R1037L|SSFA2_uc002uoj.2_Missense_Mutation_p.R1037L|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.R884L|SSFA2_uc002uol.2_Missense_Mutation_p.R884L|SSFA2_uc002uom.2_Missense_Mutation_p.R505L NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 1037 Potential. cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) CGTGCTGTGCGCATGCCTTCA 0.532 NA 7 222 0.00448238 0.00470454 0.004482 1 0 FAM171B 165215 broad.mit.edu 37 2 187626258 187626258 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:187626258G>T uc002ups.2 + 8 1301 c.1189G>T c.(1189-1191)GTC>TTC p.V397F FAM171B_uc002upr.1_Missense_Mutation_p.V397F|FAM171B_uc002upt.2_5'Flank NM_177454 NP_803237 Q6P995 F171B_HUMAN KIAA1946 397 Cytoplasmic (Potential). integral to membrane DNA binding ovary(6)|breast(3)|central_nervous_system(1) 10 TAAACTTGAGGTCCTCAAGAG 0.358 NA 89 265 1.2136e-71 2.2755e-71 0.00361 1 0 COL3A1 1281 broad.mit.edu 37 2 189849689 189849689 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:189849689G>T uc002uqj.1 + 2 399 c.282_splice c.e2+1 p.A94_splice 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) TCCAACTGCTGTGAGTTTAAA 0.388 NA 11 25 6.42651e-13 8.30219e-13 0.000978 1 0 COL3A1 1281 broad.mit.edu 37 2 189872628 189872628 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:189872628G>A uc002uqj.1 + 46 3498 c.3381G>A c.(3379-3381)CAG>CAA p.Q1127Q NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1127 Triple-helical region. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) CTGGTCAGCAGGGTGCAATCG 0.463 NA 61 74 0 0 0.00361 0 0 COL5A2 1290 broad.mit.edu 37 2 189904126 189904126 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:189904126G>A uc002uqk.2 - 51 4072 c.3797C>T c.(3796-3798)CCA>CTA p.P1266L COL5A2_uc010frx.2_Missense_Mutation_p.P842L NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1266 Fibrillar collagen NC1. axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ATGAACCCCTGGGTCCGTTTT 0.517 NA 24 48 0 0 0.005443 0 0 ZDBF2 57683 broad.mit.edu 37 2 207172847 207172847 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:207172847G>A uc002vbp.2 + 5 3845 c.3595G>A c.(3595-3597)GTA>ATA p.V1199I NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1199 nucleic acid binding|zinc ion binding ovary(3) 3 TGGTTCTGAAGTAAGTTTTGA 0.418 NA 5 174 0 0 0.00308 0 0 PTH2R 5746 broad.mit.edu 37 2 209302554 209302554 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:209302554C>A uc002vdb.2 + 4 572 c.359C>A c.(358-360)GCC>GAC p.A120D PTH2R_uc010zjb.1_Missense_Mutation_p.A131D NM_005048 NP_005039 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor precursor 120 Extracellular (Potential). integral to plasma membrane parathyroid hormone receptor activity ovary(1)|breast(1)|skin(1) 3 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) AAAACATGGGCCAATTATTCA 0.403 NA 12 176 1.99824e-07 2.31307e-07 0.00499 1 0 PECR 55825 broad.mit.edu 37 2 216923646 216923646 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:216923646G>A uc002vft.2 - 4 546 c.478C>T c.(478-480)CCT>TCT p.P160S PECR_uc010zjq.1_Intron|PECR_uc002vfr.2_Missense_Mutation_p.P22S|PECR_uc002vfs.2_Missense_Mutation_p.P14S NM_018441 NP_060911 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 160 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity 0 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) GCTTTAGTAGGGACAATGATA 0.378 NA 33 74 0 0 0.007835 0 0 PLCD4 84812 broad.mit.edu 37 2 219492945 219492945 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:219492945A>T uc002vij.1 + 7 1161 c.966A>T c.(964-966)GGA>GGT p.G322G PLCD4_uc002vik.1_Silent_p.G169G|PLCD4_uc010zkk.1_Intron NM_032726 NP_116115 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 322 PI-PLC X-box. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3) 3 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCGTCGAGGGATATATACGGT 0.512 NA 9 190 0 0 0.001368 0 0 TTLL4 9654 broad.mit.edu 37 2 219611895 219611895 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:219611895G>A uc002viy.2 + 9 2514 c.2144G>A c.(2143-2145)CGC>CAC p.R715H TTLL4_uc010zkl.1_Missense_Mutation_p.R550H|TTLL4_uc010fvx.2_Intron|TTLL4_uc010zkm.1_5'UTR NM_014640 NP_055455 Q14679 TTLL4_HUMAN tubulin tyrosine ligase-like family, member 4 715 TTL. protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity ovary(2)|skin(1) 3 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AGCAGCAGCCGCCAAAAGTGG 0.542 GBM(172;1818 2053 15407 20943 49753) NA 3 37 0 0 0.004672 0 0 TUBA4B 80086 broad.mit.edu 37 2 220136384 220136384 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:220136384T>C uc002vkv.1 + 4 854 c.689T>C c.(688-690)TTA>TCA p.L230S TUBA4B_uc002vku.2_RNA NR_003063 RecName: Full=Putative tubulin-like protein alpha-4B; AltName: Full=Alpha-tubulin 4B; 0 TGGCAGAGATTACCAATGCCT 0.552 NA 3 68 0 0 0.006214 0 0 SPEG 10290 broad.mit.edu 37 2 220353298 220353298 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:220353298G>T uc010fwg.2 + 33 7937 c.7937G>T c.(7936-7938)CGG>CTG p.R2646L NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 2646 Ig-like 9. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AGCATCCCCCGGGCGGGCAAG 0.642 NA 4 13 1.024e-07 1.19172e-07 0.000602 1 0 CHPF 79586 broad.mit.edu 37 2 220404338 220404338 + Missense_Mutation SNP C C G rs149014949 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:220404338C>G uc002vmc.3 - 4 2322 c.2095G>C c.(2095-2097)GAG>CAG p.E699Q CHPF_uc010zlh.1_Missense_Mutation_p.E537Q NM_024536 NP_078812 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 699 Lumenal (Potential). Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding 0 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) AGCAGCTCCTCTTCTTGTTCT 0.647 NA 4 51 0 0 0.00308 0 0 SLC4A3 6508 broad.mit.edu 37 2 220496825 220496825 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:220496825G>A uc002vmp.3 + 7 1216 c.947G>A c.(946-948)CGG>CAG p.R316Q SLC4A3_uc002vmn.2_Missense_Mutation_p.R343Q|SLC4A3_uc002vmo.3_Missense_Mutation_p.R343Q|SLC4A3_uc010fwm.2_5'UTR|SLC4A3_uc010fwn.1_5'UTR NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 316 Cytoplasmic. bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AAGCTGGACCGGAGGCCTCAT 0.652 NA 5 11 0 0 0.001984 0 0 SCG2 7857 broad.mit.edu 37 2 224463262 224463262 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:224463262C>A uc002vnm.2 - 2 872 c.739G>T c.(739-741)GGA>TGA p.G247* NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 247 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CAGTCTTCTCCCCCGACCACA 0.413 NA 168 543 3.92034e-43 6.67819e-43 0.00361 1 0 DNER 92737 broad.mit.edu 37 2 230341871 230341871 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:230341871A>G uc002vpv.2 - 7 1393 c.1246T>C c.(1246-1248)TGC>CGC p.C416R DNER_uc010zly.1_Missense_Mutation_p.C144R NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 416 Extracellular (Potential).|EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GGACACTGGCAGGTGAATCCA 0.378 NA 17 66 0 0 0.007835 0 0 RBM44 375316 broad.mit.edu 37 2 238726701 238726701 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:238726701C>T uc002vxi.3 + 3 1274 c.1142C>T c.(1141-1143)TCC>TTC p.S381F NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 380 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) TGTCAAACTTCCTGGACCTCT 0.378 NA 9 70 0 0 0.008291 0 0 HDAC4 9759 broad.mit.edu 37 2 240066294 240066294 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:240066294G>A uc002vyk.3 - 8 1642 c.850C>T c.(850-852)CCG>TCG p.P284S HDAC4_uc010fyz.1_Missense_Mutation_p.P279S|HDAC4_uc010zoa.1_Missense_Mutation_p.P279S|HDAC4_uc010fza.2_Missense_Mutation_p.P284S|HDAC4_uc010fyy.2_Missense_Mutation_p.P236S|HDAC4_uc010znz.1_Missense_Mutation_p.P167S|HDAC4_uc010fzb.1_RNA NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 284 Interaction with MEF2A. B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) ACATCCAACGGACGCTTTTTT 0.577 NA 12 39 0 0 0.003163 0 0 OR6B2 389090 broad.mit.edu 37 2 240969840 240969840 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:240969840C>G uc002vyr.2 - 2 53 c.7G>C c.(7-9)GGG>CGG p.G3R OR6B2_uc010zoc.1_Missense_Mutation_p.G3R NM_001005853 NP_001005853 Q6IFH4 OR6B2_HUMAN olfactory receptor, family 6, subfamily B, 3 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148) ACATTCTCCCCACTCATGCCT 0.592 NA 10 27 0 0 0.006214 0 0 VPS16 64601 broad.mit.edu 37 20 2840774 2840774 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:2840774G>T uc002whe.2 + 3 265 c.217G>T c.(217-219)GGC>TGC p.G73C VPS16_uc002whh.2_5'Flank|VPS16_uc002whf.2_Missense_Mutation_p.G73C|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 73 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 CTCTGCTTCCGGCATGCCTCT 0.577 NA 14 27 9.16793e-09 1.08926e-08 0.00499 1 0 RASSF2 9770 broad.mit.edu 37 20 4770300 4770300 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:4770300C>A uc002wld.2 - 7 635 c.581G>T c.(580-582)CGC>CTC p.R194L RASSF2_uc002wlc.2_RNA|RASSF2_uc002wle.2_RNA|RASSF2_uc002wlf.2_Missense_Mutation_p.R194L|RASSF2_uc010gbh.2_5'Flank NM_170774 NP_739580 P50749 RASF2_HUMAN Ras association domain family 2 194 Ras-associating. cell cycle|signal transduction nucleus protein binding p.R194H(1) ovary(3)|lung(2)|large_intestine(1) 6 GCTGTTGATGCGGACGTTGGT 0.547 Melanoma(158;1891 3343 50738) NA 12 60 6.31663e-08 7.35918e-08 0.003163 1 0 PLCB1 23236 broad.mit.edu 37 20 8770893 8770894 + Missense_Mutation DNP GG GG TT TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:8770893_8770894GG>TT uc002wnb.2 + 31 3411_3412 c.3408_3409GG>TT c.(3406-3411)CTGGAT>CTTTAT p.D1137Y PLCB1_uc002wna.2_Missense_Mutation_p.D1137Y NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 1137 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 AGCAGATCCTGGATGAAAAGCC 0.342 NA 29 106 0 0 0.004672 0 0 C20orf114 92747 broad.mit.edu 37 20 31873972 31873972 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:31873972C>T uc002wyw.1 + 2 254 c.93C>T c.(91-93)CTC>CTT p.L31L C20orf114_uc010gej.1_Silent_p.L31L NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 31 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 TTCTCATCCTCGGCCCAAAAG 0.567 NA 8 44 0 0 0.00308 0 0 FAM83C 128876 broad.mit.edu 37 20 33876672 33876672 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:33876672G>T uc010zux.1 - 2 721 c.603C>A c.(601-603)TAC>TAA p.Y201* FAM83C_uc002xcb.1_Nonsense_Mutation_p.Y25* NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 201 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) CAAGGAGCAGGTACACAGGGA 0.602 NA 15 62 2.4624e-09 2.95816e-09 0.008871 1 0 SAMHD1 25939 broad.mit.edu 37 20 35540928 35540928 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:35540928G>A uc002xgh.1 - 10 1220 c.1090C>T c.(1090-1092)CAC>TAC p.H364Y NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN SAM domain- and HD domain-containing protein 1 364 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity 0 Myeloproliferative disorder(115;0.00878) TTGCGAGTGTGGAACATGTCA 0.328 NA 39 113 0 0 0.00361 0 0 LBP 3929 broad.mit.edu 37 20 36993349 36993349 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:36993349G>T uc002xic.1 + 8 899 c.864G>T c.(862-864)ACG>ACT p.T288T NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 288 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) TCTTCAACACGGCCAGCCTGG 0.473 NA 41 227 1.02687e-29 1.61429e-29 0.003214 1 0 LBP 3929 broad.mit.edu 37 20 36993396 36993396 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:36993396C>A uc002xic.1 + 8 946 c.911C>A c.(910-912)ACA>AAA p.T304K NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 304 acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway extracellular space Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding ovary(1)|central_nervous_system(1) 2 Myeloproliferative disorder(115;0.00878) TTCTCCATCACAGATGACATG 0.453 NA 27 199 2.81731e-10 3.44197e-10 0.002096 1 0 CHD6 84181 broad.mit.edu 37 20 40081428 40081428 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:40081428T>A uc002xka.1 - 21 3453 c.3275A>T c.(3274-3276)TAC>TTC p.Y1092F NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1092 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) CGCTCGGAGGTAGCGCCTGGC 0.517 NA 5 170 0 0 0.001168 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505620 44505620 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:44505620C>T uc002xqd.2 + 2 626 c.423C>T c.(421-423)GCC>GCT p.A141A ZSWIM3_uc010zxg.1_Silent_p.A135A NM_080752 NP_542790 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM domain containing 3 141 zinc ion binding ovary(2) 2 Myeloproliferative disorder(115;0.0122) TTGACACTGCCGAGAAGTCCC 0.517 NA 6 78 0 0 0.001168 0 0 MMP9 4318 broad.mit.edu 37 20 44637627 44637627 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:44637627C>T uc002xqz.2 + 1 81 c.62C>T c.(61-63)CCC>CTC p.P21L NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 21 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TTTGCTGCCCCCAGACAGCGC 0.617 NA 6 14 0 0 0.001168 0 0 BCAS1 8537 broad.mit.edu 37 20 52591957 52591957 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:52591957C>G uc002xws.2 - 8 1491 c.1153G>C c.(1153-1155)GAC>CAC p.D385H BCAS1_uc010zza.1_Intron|BCAS1_uc010zzb.1_Missense_Mutation_p.D333H|BCAS1_uc010gim.2_Intron|BCAS1_uc002xwt.2_Intron|BCAS1_uc010gil.1_Missense_Mutation_p.D385H NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 385 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) GGGACTGAGTCCTCTTTAACT 0.403 NA 14 118 0 0 0.006122 0 0 BCAS1 8537 broad.mit.edu 37 20 52612502 52612502 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:52612502C>A uc002xws.2 - 5 1149 c.811G>T c.(811-813)GCA>TCA p.A271S BCAS1_uc010zza.1_5'UTR|BCAS1_uc010zzb.1_Missense_Mutation_p.A174S|BCAS1_uc010gim.2_Missense_Mutation_p.A174S|BCAS1_uc002xwt.2_Missense_Mutation_p.A271S|BCAS1_uc010gil.1_Missense_Mutation_p.A271S NM_003657 NP_003648 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 271 cytoplasm protein binding ovary(2)|central_nervous_system(1) 3 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TCGTCCTTTGCAGTCTCCAGT 0.473 NA 73 207 1.62783e-20 2.34407e-20 0.00361 1 0 ZNF831 128611 broad.mit.edu 37 20 57829002 57829002 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:57829002C>G uc002yan.2 + 5 4238 c.4238C>G c.(4237-4239)ACT>AGT p.T1413S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1413 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) ACTCACAGCACTGCTGCCACA 0.498 NA 29 218 0 0 0.003271 0 0 EDN3 1908 broad.mit.edu 37 20 57876663 57876663 + Missense_Mutation SNP C C A rs142051051 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:57876663C>A uc002yap.2 + 2 620 c.251C>A c.(250-252)GCG>GAG p.A84E EDN3_uc002yao.1_Missense_Mutation_p.A84E|EDN3_uc002yaq.2_Missense_Mutation_p.A84E|EDN3_uc002yar.2_Missense_Mutation_p.A84E|EDN3_uc002yas.2_Missense_Mutation_p.A84E NM_000114 NP_000105 P14138 EDN3_HUMAN endothelin 3 isoform 1 preproprotein 84 cell surface receptor linked signaling pathway|inositol phosphate-mediated signaling|neutrophil chemotaxis|peptide hormone secretion|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of leukocyte chemotaxis|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space|soluble fraction endothelin B receptor binding|hormone activity skin(1) 1 all_lung(29;0.0115) CAGGAGCAGGCGGCCGAGGGG 0.662 NA 7 19 8.12818e-05 8.93935e-05 0.001984 1 0 PHACTR3 116154 broad.mit.edu 37 20 58348406 58348406 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:58348406C>T uc002yau.2 + 6 1291 c.824C>T c.(823-825)CCC>CTC p.P275L PHACTR3_uc002yat.2_Missense_Mutation_p.P272L|PHACTR3_uc010zzw.1_Missense_Mutation_p.P234L|PHACTR3_uc002yav.2_Missense_Mutation_p.P234L|PHACTR3_uc002yaw.2_Missense_Mutation_p.P234L|PHACTR3_uc002yax.2_Missense_Mutation_p.P164L NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 275 nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTCTCCACACCCACGGGGTCT 0.662 NA 4 45 0 0 0.004482 0 0 SLC17A9 63910 broad.mit.edu 37 20 61588903 61588903 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:61588903T>C uc002yea.3 + 3 552 c.368T>C c.(367-369)TTC>TCC p.F123S SLC17A9_uc002ydz.3_Missense_Mutation_p.F117S|SLC17A9_uc011aap.1_Missense_Mutation_p.F143S NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 123 Helical; (Potential). exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 TTCATGACCTTCTCACGCATC 0.612 NA 3 30 0 0 0.004672 0 0 KRTAP26-1 388818 broad.mit.edu 37 21 31691975 31691975 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:31691975G>T uc002ynw.2 - 1 633 c.379C>A c.(379-381)CCG>ACG p.P127T NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 127 intermediate filament ovary(1) 1 TTGAGCAGCGGCCTCAGTGGA 0.537 NA 15 351 8.60227e-14 1.12475e-13 0.004007 1 0 KRTAP13-1 140258 broad.mit.edu 37 21 31768708 31768708 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:31768708T>G uc002yoa.2 + 1 317 c.304T>G c.(304-306)TTT>GTT p.F102V NM_181599 NP_853630 Q8IUC0 KR131_HUMAN keratin associated protein 13-1 102 intermediate filament ovary(1) 1 GTCTCTAGGCTTTGGATCCAG 0.597 NA 5 67 0 0 0.001984 0 0 CLDN14 23562 broad.mit.edu 37 21 37833580 37833580 + Missense_Mutation SNP C C A rs142846225 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:37833580C>A uc002yvk.1 - 2 556 c.414G>T c.(412-414)TGG>TGT p.W138C CLDN14_uc002yvn.1_Missense_Mutation_p.W138C|CLDN14_uc002yvo.1_Missense_Mutation_p.W138C|CLDN14_uc002yvl.1_Missense_Mutation_p.W138C|CLDN14_uc002yvm.1_Missense_Mutation_p.W138C NM_012130 NP_036262 O95500 CLD14_HUMAN claudin 14 138 Extracellular (Potential). calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity 0 CGTTGGTGGTCCAGGAGACGG 0.637 NA 10 37 1.61879e-10 1.98219e-10 0.001368 1 0 ERG 2078 broad.mit.edu 37 21 39775598 39775598 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:39775598T>G uc010gnw.2 - 6 738 c.443A>C c.(442-444)CAG>CCG p.Q148P ERG_uc002yxa.2_Missense_Mutation_p.Q141P|ERG_uc011aek.1_Missense_Mutation_p.Q49P|ERG_uc010gnv.2_Missense_Mutation_p.Q49P|ERG_uc010gnx.2_Missense_Mutation_p.Q148P|ERG_uc011ael.1_Missense_Mutation_p.Q148P|ERG_uc002yxb.2_Missense_Mutation_p.Q148P|ERG_uc011aem.1_Intron|ERG_uc002yxc.3_Missense_Mutation_p.Q148P|ERG_uc010gny.1_RNA NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 148 PNT. cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) CTCCAGCCACTGCCGCACATG 0.507 Esophageal Squamous(130;336 1700 3010 3083 40589) NA 57 183 0 0 0.00361 0 0 IGSF5 150084 broad.mit.edu 37 21 41137527 41137527 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:41137527G>T uc002yyo.2 + 3 269 c.166G>T c.(166-168)GCT>TCT p.A56S NM_001080444 NP_001073913 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily 5 like 56 Ig-like V-type 1.|Extracellular (Potential). integral to membrane|tight junction 0 Prostate(19;5.35e-06) GGGCTCCCAGGCTCGCTTCAA 0.527 NA 65 138 1.25089e-41 2.10758e-41 0.00361 1 0 DSCAM 1826 broad.mit.edu 37 21 41725556 41725556 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:41725556C>T uc002yyq.1 - 5 1222 c.770G>A c.(769-771)CGC>CAC p.R257H DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 257 Extracellular (Potential).|Ig-like C2-type 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CTTCAGCCAGCGGTAATCTGG 0.602 Melanoma(134;970 1778 1785 21664 32388) NA 4 67 0 0 0.001984 0 0 MX2 4600 broad.mit.edu 37 21 42771258 42771258 + Nonsense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:42771258C>T uc002yzf.1 + 10 1512 c.1408C>T c.(1408-1410)CAA>TAA p.Q470* MX2_uc002yzg.1_Nonsense_Mutation_p.Q193*|MX2_uc010gop.1_Intron NM_002463 NP_002454 P20592 MX2_HUMAN myxovirus resistance protein 2 470 response to virus|type I interferon-mediated signaling pathway cytoplasm|nucleus GTP binding|GTPase activity ovary(2) 2 Prostate(19;1.57e-07)|all_epithelial(19;0.0222) AACTAATACCCAAAAAGGTAA 0.443 NA 10 109 0 0 0.001855 0 0 ZNF295 49854 broad.mit.edu 37 21 43412161 43412161 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:43412161G>T uc002zab.3 - 3 2258 c.2044C>A c.(2044-2046)CTC>ATC p.L682I ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Missense_Mutation_p.L682I|ZNF295_uc002zaa.3_Missense_Mutation_p.L682I NM_001098402 NP_001091872 Q9ULJ3 ZN295_HUMAN zinc finger protein 295 isoform L 682 C2H2-type 3. negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|nucleus methyl-CpG binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 AATTGAGAGAGAAAGCGGTAC 0.433 NA 8 101 0.00448238 0.00470454 0.004482 1 0 UMODL1 89766 broad.mit.edu 37 21 43524089 43524089 + Missense_Mutation SNP G G T rs150059583 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:43524089G>T uc002zaf.1 + 9 1411 c.1411G>T c.(1411-1413)GTG>TTG p.V471L UMODL1_uc002zad.1_Missense_Mutation_p.V399L|UMODL1_uc002zae.1_Missense_Mutation_p.V399L|UMODL1_uc002zag.1_Missense_Mutation_p.V471L|UMODL1_uc010gow.1_Missense_Mutation_p.V263L|UMODL1_uc002zai.1_Missense_Mutation_p.V122L|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.V122L|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.V216L|C21orf128_uc002zak.2_Missense_Mutation_p.H48Q NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 471 Extracellular (Potential).|SEA 1. cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CAAGCTCACCGTGCAGGACCC 0.607 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 17 71 7.21436e-19 1.02251e-18 0.008871 1 0 KRTAP10-8 386681 broad.mit.edu 37 21 46032564 46032564 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:46032564G>T uc002zfo.1 + 1 569 c.547G>T c.(547-549)GCT>TCT p.A183S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198695 NP_941968 P60410 KR108_HUMAN keratin associated protein 10-8 183 19 X 5 AA repeats of C-C-X(3). keratin filament large_intestine(1)|breast(1) 2 CTGCTCTGGGGCTTCCTCTCT 0.587 NA 93 338 1.8585e-67 3.44876e-67 0.00361 1 0 CCT8L2 150160 broad.mit.edu 37 22 17071902 17071902 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:17071902C>G uc002zlp.1 - 1 1799 c.1539G>C c.(1537-1539)CAG>CAC p.Q513H NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 513 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAGTCACGAGCTGTAGCACCA 0.498 NA 41 77 0 0 0.00361 0 0 MICAL3 57553 broad.mit.edu 37 22 18301457 18301457 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:18301457C>A uc002zng.3 - 26 4323 c.3970G>T c.(3970-3972)GTG>TTG p.V1324L MICAL3_uc011agl.1_Missense_Mutation_p.V1240L NM_015241 NP_056056 Q7RTP6 MICA3_HUMAN microtubule associated monoxygenase, calponin 1324 Pro-rich. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding 0 all_epithelial(15;0.198) Lung(27;0.0427) AACTCCTCCACCAGGTCGCTC 0.662 NA 3 9 0.00024832 0.000270348 0.009096 1 0 SEZ6L 23544 broad.mit.edu 37 22 26761403 26761403 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:26761403C>A uc003acb.2 + 13 2821 c.2665C>A c.(2665-2667)CGA>AGA p.R889R SEZ6L_uc003acc.2_Silent_p.R889R|SEZ6L_uc011akc.1_Silent_p.R889R|SEZ6L_uc003acd.2_Silent_p.R825R|SEZ6L_uc011akd.1_Silent_p.R889R|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Silent_p.R662R|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_RNA NM_021115 NP_066938 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 889 Sushi 5.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane ovary(4)|central_nervous_system(1)|pancreas(1) 6 CCTGTACAAGCGACTCTACCT 0.547 NA 65 112 4.81439e-37 7.92614e-37 0.00361 1 0 CHEK2 11200 broad.mit.edu 37 22 29091840 29091841 + Missense_Mutation DNP TG TG CA rs142470496 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:29091840_29091841TG>CA uc003adu.1 - 11 1188_1189 c.1116_1117CA>TG c.(1114-1119)TCCAAG>TCTGAG p.K373E CHEK2_uc003ads.1_Missense_Mutation_p.K152E|CHEK2_uc010gvh.1_Missense_Mutation_p.K282E|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Missense_Mutation_p.K416E|CHEK2_uc003adv.1_Missense_Mutation_p.K344E|CHEK2_uc003adw.1_Missense_Mutation_p.K373E|CHEK2_uc003adx.1_Missense_Mutation_p.K152E|CHEK2_uc003ady.1_Missense_Mutation_p.K373E|CHEK2_uc003adz.1_Missense_Mutation_p.K177E NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 373 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity p.K373E(2)|p.S372S(1) central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCCAAAATCTTGGAGTGCCCAA 0.416 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 6 89 0 0 0.004672 0 0 C22orf42 150297 broad.mit.edu 37 22 32550243 32550243 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:32550243G>T uc003amd.2 - 2 336 c.295C>A c.(295-297)CTA>ATA p.L99I NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 99 ovary(1)|skin(1) 2 ATATTTTCTAGAGGCCAAATC 0.378 NA 23 76 3.93418e-24 5.90948e-24 0.004289 1 0 RANGAP1 5905 broad.mit.edu 37 22 41657531 41657531 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:41657531C>A uc003azs.2 - 5 2004 c.534G>T c.(532-534)AAG>AAT p.K178N RANGAP1_uc003azt.2_Missense_Mutation_p.K178N|RANGAP1_uc003azu.2_Missense_Mutation_p.K178N|RANGAP1_uc011aoz.1_Intron NM_002883 NP_002874 P46060 RAGP1_HUMAN Ran GTPase activating protein 1 178 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity 0 GGGCCAGAGGCTTGCCTTGGG 0.582 NA 9 24 0.00244969 0.00258619 0.00245 1 0 C22orf9 23313 broad.mit.edu 37 22 45598869 45598869 + Splice_Site SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:45598869A>C uc003bfx.1 - 7 918 c.852_splice c.e7+1 p.R284_splice C22orf9_uc010gzw.1_Splice_Site_p.R136_splice|C22orf9_uc003bfv.1_Splice_Site_p.R293_splice|C22orf9_uc003bfw.1_Splice_Site_p.R289_splice|C22orf9_uc010gzx.2_Splice_Site_p.R266_splice|MIR1249_hsa-mir-1249|MI0006384_5'Flank NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) TGCAGCCCTTACCCGCTCGTG 0.652 NA 12 12 0 0 0.001855 0 0 SMC1B 27127 broad.mit.edu 37 22 45802673 45802673 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:45802673T>A uc003bgc.2 - 3 424 c.372A>T c.(370-372)ATA>ATT p.I124I SMC1B_uc003bgd.2_Silent_p.I124I|SMC1B_uc003bge.1_5'UTR NM_148674 NP_683515 Q8NDV3 SMC1B_HUMAN SMC1 structural maintenance of chromosomes 124 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding ovary(2) 2 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTATTATGCCTATCTTTTCCA 0.299 NA 28 90 0 0 0.007835 0 0 ZBED4 9889 broad.mit.edu 37 22 50277734 50277734 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:50277734G>A uc003bix.2 + 2 894 c.424G>A c.(424-426)GAG>AAG p.E142K NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 142 BED-type 1. cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CTGTGTGAAGGAGTTCAGCAG 0.507 NA 31 69 0 0 0.003755 0 0 SHANK3 85358 broad.mit.edu 37 22 51143400 51143400 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:51143400G>T uc003bne.1 + 17 1953 c.1953G>T c.(1951-1953)GGG>GGT p.G651G SHANK3_uc003bnf.1_Silent_p.G106G NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 651 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) AGGTGAACGGGGTGAACGTGG 0.632 NA 6 26 0.00621372 0.00647137 0.006214 1 0 CNTN6 27255 broad.mit.edu 37 3 1415642 1415642 + Silent SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:1415642A>C uc003boz.2 + 16 2247 c.1980A>C c.(1978-1980)GCA>GCC p.A660A CNTN6_uc011asj.1_Silent_p.A588A|CNTN6_uc003bpa.2_Silent_p.A660A NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 660 Fibronectin type-III 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CATACAATGCAACAGTGGTTG 0.388 NA 45 122 0 0 0.00361 0 0 CNTN4 152330 broad.mit.edu 37 3 2908612 2908612 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:2908612C>A uc003bpc.2 + 7 852 c.631C>A c.(631-633)CCA>ACA p.P211T CNTN4_uc003bpb.1_5'UTR|CNTN4_uc003bpd.1_Missense_Mutation_p.P211T NM_175607 NP_783200 Q8IWV2 CNTN4_HUMAN contactin 4 isoform a precursor 211 axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding large_intestine(2)|ovary(2)|lung(1)|central_nervous_system(1)|pancreas(1) 7 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) GCCACCTACACCACTAATATT 0.383 NA 21 67 4.26978e-12 5.41239e-12 0.00333 1 0 SEC13 6396 broad.mit.edu 37 3 10354321 10354321 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:10354321C>G uc003bvn.2 - 4 377 c.258G>C c.(256-258)TGG>TGC p.W86C SEC13_uc003bvl.2_Missense_Mutation_p.W18C|SEC13_uc003bvm.2_Missense_Mutation_p.W72C|SEC13_uc003bvp.2_Missense_Mutation_p.W89C|SEC13_uc003bvo.2_Missense_Mutation_p.W132C|SEC13_uc003bvq.1_Missense_Mutation_p.W72C|SEC13_uc003bvr.1_Missense_Mutation_p.W72C|SEC13_uc011aul.1_Missense_Mutation_p.W86C NM_183352 NP_899195 P55735 SEC13_HUMAN SEC13 protein isoform 1 86 WD 2. COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex protein binding ovary(1) 1 TTTCCTCTCTCCAGATAATGA 0.582 NA 27 74 0 0 0.005443 0 0 OXSM 54995 broad.mit.edu 37 3 25835674 25835674 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:25835674G>T uc003cdn.2 + 3 1176 c.1069G>T c.(1069-1071)GCT>TCT p.A357S OXSM_uc011awp.1_Missense_Mutation_p.A82S|OXSM_uc010hfh.2_Missense_Mutation_p.A274S NM_017897 NP_060367 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial isoform 1 357 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity ovary(1)|breast(1) 2 ATTGGGAGATGCTGCTGAAAA 0.453 NA 33 96 4.14481e-20 5.93686e-20 0.00623 1 0 TRANK1 9881 broad.mit.edu 37 3 36872739 36872739 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:36872739C>T uc003cgj.2 - 12 6855 c.6553G>A c.(6553-6555)GGC>AGC p.G2185S NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2735 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 TTCTCTGGGCCACGGGTAAAC 0.592 NA 37 131 0 0 0.007835 0 0 SLC22A13 9390 broad.mit.edu 37 3 38316550 38316550 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:38316550G>T uc003chz.3 + 4 762 c.708G>T c.(706-708)GGG>GGT p.G236G SLC22A13_uc011aym.1_RNA|SLC22A13_uc011ayn.1_Silent_p.G236G NM_004256 NP_004247 Q9Y226 S22AD_HUMAN solute carrier family 22 (organic anion 236 Helical; (Potential). integral to plasma membrane organic cation transmembrane transporter activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067) TCTCCCTCGGGCAGATGGTGC 0.607 NA 46 126 9.57592e-29 1.49667e-28 0.00361 1 0 SCN11A 11280 broad.mit.edu 37 3 38936055 38936055 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:38936055T>A uc011ays.1 - 15 3003 c.2804A>T c.(2803-2805)CAG>CTG p.Q935L SCN11A_uc010hhn.1_Missense_Mutation_p.Q51L NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 935 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGTGATGCGCTGTGCATTATC 0.488 NA 15 769 0 0 0.00499 0 0 ULK4 54986 broad.mit.edu 37 3 41860964 41860964 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:41860964G>T uc003ckv.3 - 19 2000 c.1799C>A c.(1798-1800)GCT>GAT p.A600D ULK4_uc003ckw.2_Missense_Mutation_p.A600D NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 600 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) CAAGGGAACAGCCCAGCACTC 0.438 NA 29 338 3.90053e-15 5.18789e-15 0.002445 1 0 TGM4 7047 broad.mit.edu 37 3 44951851 44951851 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:44951851C>A uc003coc.3 + 11 1670 c.1597C>A c.(1597-1599)CAA>AAA p.Q533K NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 533 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) CTCGCAGATCCAAGGTCAAGG 0.498 NA 42 75 1.12205e-10 1.38019e-10 0.00361 1 0 FYCO1 79443 broad.mit.edu 37 3 46021226 46021226 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:46021226C>A uc003cpb.3 - 4 465 c.259G>T c.(259-261)GGG>TGG p.G87W FYCO1_uc011bal.1_Missense_Mutation_p.G87W NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 87 RUN. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) AAGCGGATCCCATCATTGGCT 0.507 NA 45 132 9.52127e-25 1.44424e-24 0.00361 1 0 RASSF1 11186 broad.mit.edu 37 3 50368057 50368057 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:50368057G>A uc003dad.1 - 6 1121 c.990C>T c.(988-990)TGC>TGT p.C330C TUSC2_uc003czy.1_5'Flank|TUSC2_uc003czz.1_5'Flank|RASSF1_uc003daa.1_Silent_p.C175C|RASSF1_uc003dab.1_Silent_p.C256C|RASSF1_uc003dac.2_Silent_p.C175C|RASSF1_uc003dae.1_Silent_p.C326C|RASSF1_uc010hlk.1_RNA|RASSF1_uc003daf.1_Silent_p.C175C NM_170714 NP_733832 Q9NS23 RASF1_HUMAN Ras association domain family 1 isoform D 330 SARAH. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) TCTTCTGGCGGCAATAGGAGT 0.612 NA 12 22 0 0 0.00499 0 0 ITIH1 3697 broad.mit.edu 37 3 52818397 52818397 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:52818397C>T uc003dfs.2 + 11 1335 c.1311C>T c.(1309-1311)CAC>CAT p.H437H ITIH1_uc010hmn.1_RNA|ITIH1_uc003dft.2_Silent_p.H38H|ITIH1_uc010hmo.1_5'UTR NM_002215 NP_002206 P19827 ITIH1_HUMAN inter-alpha (globulin) inhibitor H1 437 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) GTTTCGGCCACAATGTGGACT 0.577 NA 26 27 0 0 0.003954 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54872616 54872616 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:54872616G>T uc003dhf.2 + 16 1540 c.1492G>T c.(1492-1494)GGA>TGA p.G498* CACNA2D3_uc011beu.1_RNA|CACNA2D3_uc003dhg.1_Nonsense_Mutation_p.G404*|CACNA2D3_uc003dhh.1_RNA|CACNA2D3_uc010hmv.1_Nonsense_Mutation_p.G232* NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 498 Extracellular (Potential).|Cache. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) CATTCTTCTGGGAGTGGTTGG 0.383 NA 5 214 0.00116845 0.00123961 0.001168 1 0 CADPS 8618 broad.mit.edu 37 3 62636588 62636588 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:62636588G>C uc003dll.2 - 5 1497 c.1137C>G c.(1135-1137)ATC>ATG p.I379M CADPS_uc003dlm.2_Missense_Mutation_p.I379M|CADPS_uc003dln.2_Missense_Mutation_p.I379M NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 379 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) CGCCCATGTCGATGATGGAAG 0.522 NA 38 157 0 0 0.00874 0 0 CADPS 8618 broad.mit.edu 37 3 62751567 62751567 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:62751567G>T uc003dll.2 - 2 894 c.534C>A c.(532-534)AAC>AAA p.N178K CADPS_uc003dlm.2_Missense_Mutation_p.N178K|CADPS_uc003dln.2_Missense_Mutation_p.N178K NM_003716 NP_003707 Q9ULU8 CAPS1_HUMAN Ca2+-dependent secretion activator isoform 1 178 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding central_nervous_system(2)|ovary(1) 3 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TCTGCACAGCGTTCATGAAGG 0.517 NA 71 335 2.13026e-44 3.66351e-44 0.00361 1 0 PDZRN3 23024 broad.mit.edu 37 3 73432940 73432940 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:73432940C>G uc003dpl.1 - 10 2873 c.2777G>C c.(2776-2778)CGC>CCC p.R926P PDZRN3_uc011bgh.1_Missense_Mutation_p.R583P|PDZRN3_uc010hoe.1_Missense_Mutation_p.R624P|PDZRN3_uc011bgf.1_Missense_Mutation_p.R643P|PDZRN3_uc011bgg.1_Missense_Mutation_p.R646P NM_015009 NP_055824 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 926 ubiquitin-protein ligase activity|zinc ion binding pancreas(2)|ovary(2)|skin(2)|large_intestine(1) 7 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) CCCGTCGCTGCGGATCTTCAC 0.667 NA 6 25 0 0 0.001168 0 0 EPHA6 285220 broad.mit.edu 37 3 96706434 96706434 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:96706434C>A uc010how.1 + 3 754 c.711C>A c.(709-711)AAC>AAA p.N237K EPHA6_uc003drp.1_Missense_Mutation_p.N237K NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 142 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TCAAGCCAAACCAGTATACAA 0.413 NA 176 542 2.07866e-96 3.98748e-96 0.00361 1 0 OR5K3 403277 broad.mit.edu 37 3 98110266 98110266 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:98110266C>A uc011bgw.1 + 1 757 c.757C>A c.(757-759)CTT>ATT p.L253I NM_001005516 NP_001005516 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGTGATTCCCTTCTCTTCAT 0.353 NA 142 515 1.14095e-56 2.0401e-56 0.00361 1 0 OR5K1 26339 broad.mit.edu 37 3 98188534 98188534 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:98188534C>G uc003dsm.2 + 1 114 c.114C>G c.(112-114)ACC>ACG p.T38T NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 38 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 ATCTGATCACCGTGGTGGGGA 0.433 NA 113 569 0 0 0.00361 0 0 KIAA1524 57650 broad.mit.edu 37 3 108278693 108278693 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:108278693C>A uc003dxb.3 - 16 2193 c.1924G>T c.(1924-1926)GAT>TAT p.D642Y NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 642 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 TCCAAAAGATCTTGTAGCCTG 0.353 NA 16 91 6.94344e-10 8.41629e-10 0.006122 1 0 KIAA2018 205717 broad.mit.edu 37 3 113375768 113375768 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:113375768G>T uc003eam.2 - 7 5172 c.4761C>A c.(4759-4761)AAC>AAA p.N1587K KIAA2018_uc003eal.2_Missense_Mutation_p.N1531K NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1587 Gln-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GGTTATGATGGTTCCGACTAG 0.478 NA 24 92 1.37878e-21 2.02321e-21 0.00333 1 0 LSAMP 4045 broad.mit.edu 37 3 115805319 115805319 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:115805319C>A uc003ebt.2 - 2 740 c.240G>T c.(238-240)CTG>CTT p.L80L LSAMP_uc011bis.1_Silent_p.L80L NM_002338 NP_002329 Q13449 LSAMP_HUMAN limbic system-associated membrane protein 80 Ig-like C2-type 1. cell adhesion|nervous system development anchored to membrane|plasma membrane 0 all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215) GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152) CCCGTGGGTCCAGAGACCACT 0.502 NA 41 186 6.87076e-12 8.68902e-12 0.00361 1 0 RABL3 285282 broad.mit.edu 37 3 120417341 120417341 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:120417341T>A uc003edx.2 - 5 493 c.463A>T c.(463-465)ACA>TCA p.T155S NM_173825 NP_776186 Q5HYI8 RABL3_HUMAN RAB, member of RAS oncogene family-like 3 155 Small GTPase-like. small GTPase mediated signal transduction GTP binding 0 GBM - Glioblastoma multiforme(114;0.151) TGGCGCTTTGTTTCATGAATC 0.358 NA 158 511 0 0 0.00361 0 0 POLQ 10721 broad.mit.edu 37 3 121209249 121209249 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:121209249C>A uc003eee.3 - 16 2658 c.2529G>T c.(2527-2529)CGG>CGT p.R843R POLQ_uc003eed.2_Silent_p.R15R NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 843 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) CCACTGCCTTCCGGGCACTAC 0.333 Pancreas(152;907 1925 26081 31236 36904) NA DNA_polymerases_(catalytic_subunits) 65 261 2.73218e-42 4.63227e-42 0.00361 1 0 FBXO40 51725 broad.mit.edu 37 3 121342078 121342078 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:121342078T>G uc003eeg.2 + 3 2012 c.1802T>G c.(1801-1803)GTG>GGG p.V601G NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 601 F-box. muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) CAGGTGTCTGTGCTGATGAGG 0.493 NA 5 242 0 0 0.001984 0 0 ADCY5 111 broad.mit.edu 37 3 123046503 123046503 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:123046503T>A uc003egh.1 - 7 1909 c.1909A>T c.(1909-1911)ATC>TTC p.I637F ADCY5_uc003egg.1_Missense_Mutation_p.I270F|ADCY5_uc003egi.1_Missense_Mutation_p.I196F NM_183357 NP_899200 O95622 ADCY5_HUMAN adenylate cyclase 5 637 Cytoplasmic (Potential). activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4) 4 GBM - Glioblastoma multiforme(114;0.0342) AAGGTCTCGATACTGTGCTCC 0.622 NA 13 41 0 0 0.001855 0 0 ALDH1L1 10840 broad.mit.edu 37 3 125850370 125850370 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:125850370C>A uc003eim.1 - 13 1670 c.1480G>T c.(1480-1482)GAT>TAT p.D494Y ALDH1L1_uc010hse.1_Intron|ALDH1L1_uc011bki.1_Missense_Mutation_p.D393Y|ALDH1L1_uc003eio.2_Missense_Mutation_p.D196Y NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 494 Aldehyde dehydrogenase. 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) TCCATGAGATCTGCCAACCTG 0.647 NA 17 51 1.00905e-13 1.31298e-13 0.008871 1 0 ALDH1L1 10840 broad.mit.edu 37 3 125872401 125872401 + Silent SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:125872401C>G uc003eim.1 - 7 934 c.744G>C c.(742-744)ACG>ACC p.T248T ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.T147T|ALDH1L1_uc003eio.2_5'UTR|ALDH1L1_uc010hsf.1_Silent_p.T274T|ALDH1L1_uc003eip.1_Silent_p.T155T|ALDH1L1_uc011bkj.1_Silent_p.T73T NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 248 10-formyltetrahydrofolate catabolic process|biosynthetic process acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0462) Tetrahydrofolic acid(DB00116) AAGTGTTCAGCGTTGAGTTGA 0.562 NA 13 70 0 0 0.003163 0 0 CHST13 166012 broad.mit.edu 37 3 126255153 126255153 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:126255153G>C uc003eja.2 + 2 137 c.137G>C c.(136-138)GGG>GCG p.G46A NM_152889 NP_690849 Q8NET6 CHSTD_HUMAN carbohydrate sulfotransferase 13 46 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.151) TGGCTTGGTGGGGAGAAGAGA 0.607 NA 7 29 0 0 0.001855 0 0 RUVBL1 8607 broad.mit.edu 37 3 127842427 127842427 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:127842427C>A uc003ekh.2 - 1 245 c.141G>T c.(139-141)GAG>GAT p.E47D RUVBL1_uc003ekf.2_Intron|RUVBL1_uc010hss.2_Missense_Mutation_p.E47D NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 47 cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix ATP binding|DNA helicase activity|protein binding skin(1) 1 GBM - Glioblastoma multiforme(114;0.181) CTGGCCACACCTCTCGCGCGT 0.706 NA 12 26 0.000978159 0.00104699 0.000978 1 0 PLXND1 23129 broad.mit.edu 37 3 129279567 129279567 + Splice_Site SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:129279567C>G uc003emx.2 - 30 5094 c.4994_splice c.e30-1 p.V1665_splice PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Splice_Site_p.V333_splice NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AAGTCTTTCACTGTGAGAGGA 0.383 Ovarian(97;366 1484 3738 22084 39045) NA 6 15 0 0 0.00308 0 0 SOX14 8403 broad.mit.edu 37 3 137483858 137483858 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:137483858C>A uc003erm.1 + 1 280 c.232C>A c.(232-234)CGA>AGA p.R78R NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 78 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 CTACAAGTACCGACCTCGGCG 0.612 NA 11 88 6.53275e-17 9.01069e-17 0.00245 1 0 PAQR9 344838 broad.mit.edu 37 3 142681802 142681802 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:142681802G>T uc003evg.2 - 1 377 c.377C>A c.(376-378)GCG>GAG p.A126E PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 126 Helical; (Potential). integral to membrane receptor activity 0 CACTCCCGACGCGTAGCACCA 0.652 NA 7 22 7.48243e-07 8.5877e-07 0.006214 1 0 IGSF10 285313 broad.mit.edu 37 3 151154859 151154859 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:151154859G>T uc011bod.1 - 6 7490 c.7490C>A c.(7489-7491)ACA>AAA p.T2497K IGSF10_uc011bob.1_Missense_Mutation_p.T524K|IGSF10_uc011boc.1_Missense_Mutation_p.T476K NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2497 Ig-like C2-type 11. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTCATAAGCTGTTGCTTCTTT 0.388 NA 131 293 2.77863e-71 5.2009e-71 0.00361 1 0 IGSF10 285313 broad.mit.edu 37 3 151164627 151164627 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:151164627C>A uc011bod.1 - 4 3142 c.3142G>T c.(3142-3144)GAA>TAA p.E1048* NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1048 cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GTGCTTTTTTCAGAAGAACCT 0.493 NA 113 274 2.77834e-61 5.07717e-61 0.00361 1 0 AADACL2 344752 broad.mit.edu 37 3 151474962 151474962 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:151474962G>A uc003ezc.2 + 5 906 c.786G>A c.(784-786)TGG>TGA p.W262* AADACL2_uc010hvn.2_Nonsense_Mutation_p.W49* NM_207365 NP_997248 Q6P093 ADCL2_HUMAN arylacetamide deacetylase-like 2 precursor 262 extracellular region|integral to membrane carboxylesterase activity 0 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) CACTTCCCTGGGCAATGAGAA 0.413 NA 117 295 0 0 0.00361 0 0 IFT80 57560 broad.mit.edu 37 3 159998598 159998598 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:159998598T>A uc011boy.1 - 15 1954 c.1521A>T c.(1519-1521)ACA>ACT p.T507T IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.T370T|IFT80_uc003fdd.1_Silent_p.T190T|IFT80_uc003fde.1_Silent_p.T370T NM_020800 NP_065851 Q9P2H3 IFT80_HUMAN WD repeat domain 56 507 WD 7. cilium axoneme|microtubule basal body ovary(1) 1 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TATGCACCATTGTTCCTTAAT 0.313 NA 19 37 0 0 0.001882 0 0 SMC4 10051 broad.mit.edu 37 3 160120494 160120494 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:160120494A>T uc003fdh.2 + 4 462 c.349A>T c.(349-351)AGT>TGT p.S117C IFT80_uc003fda.2_Intron|SMC4_uc003fdf.1_RNA|SMC4_uc003fdg.1_Missense_Mutation_p.S117C|SMC4_uc010hwc.1_Intron|SMC4_uc003fdi.2_Missense_Mutation_p.S92C|SMC4_uc003fdj.2_Missense_Mutation_p.S117C|SMC4_uc010hwd.2_Missense_Mutation_p.S117C|uc011boz.1_5'Flank|MIR15B_hsa-mir-15b|MI0000438_5'Flank|uc003fdk.2_5'Flank|MIR16-2_hsa-mir-16-2|MI0000115_5'Flank NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 117 ATP (Potential). cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GCCAAATGGCAGTGGCAAATC 0.323 NA 30 32 0 0 0.005524 0 0 DCUN1D1 54165 broad.mit.edu 37 3 182681763 182681763 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:182681763T>C uc003fld.1 - 3 344 c.295A>G c.(295-297)AGC>GGC p.S99G DCUN1D1_uc011bqn.1_Intron NM_020640 NP_065691 Q96GG9 DCNL1_HUMAN RP42 homolog 99 DCUN1. ubiquitin ligase complex protein binding ovary(1) 1 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ACACTAATGCTGGCTGGATCG 0.418 NA 19 148 0 0 0.00278 0 0 KLHL6 89857 broad.mit.edu 37 3 183209920 183209920 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:183209920G>C uc003flr.2 - 7 1719 c.1661C>G c.(1660-1662)GCG>GGG p.A554G KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 554 Kelch 5. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GTTGCAGGGCGCGATACCGCA 0.657 NA 17 39 0 0 0.00333 0 0 EIF4A2 1974 broad.mit.edu 37 3 186505350 186505350 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:186505350G>T uc003fqs.2 + 9 1015 c.976G>T c.(976-978)GTT>TTT p.V326F EIF4A2_uc003fqt.2_RNA|EIF4A2_uc003fqu.2_Missense_Mutation_p.V327F|EIF4A2_uc003fqv.2_Missense_Mutation_p.V231F|EIF4A2_uc003fqw.2_Missense_Mutation_p.V231F|EIF4A2_uc011bsb.1_Missense_Mutation_p.V199F|SNORA4_uc010hyx.1_5'Flank NM_001967 NP_001958 Q14240 IF4A2_HUMAN eukaryotic translation initiation factor 4A2 326 Helicase C-terminal. interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity ovary(2)|breast(2) 4 all_cancers(143;2.68e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.07e-20) GBM - Glioblastoma multiforme(93;0.0704) GTCAAGTCGTGTTCTGATCAC 0.398 NA T BCL6 NHL 34 123 2.68985e-26 4.12062e-26 0.00361 1 0 GAK 2580 broad.mit.edu 37 4 905514 905514 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:905514T>A uc003gbm.3 - 4 528 c.329A>T c.(328-330)GAG>GTG p.E110V GAK_uc003gbn.3_Intron|GAK_uc010ibk.1_Intron|GAK_uc003gbo.2_RNA|GAK_uc003gbl.3_5'UTR NM_005255 NP_005246 O14976 GAK_HUMAN cyclin G associated kinase 110 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity lung(2)|central_nervous_system(1)|skin(1) 4 Colorectal(103;0.219) GTCTGACTCCTCTTTTCCTAT 0.507 NA 5 32 0 0 0.00308 0 0 CNO 55330 broad.mit.edu 37 4 6718442 6718442 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:6718442C>T uc003gjp.1 + 1 601 c.506C>T c.(505-507)GCG>GTG p.A169V NM_018366 NP_060836 Q9NUP1 CNO_HUMAN cappuccino 169 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol 0 Colorectal(103;0.0523) TTCCCCAGGGCGTTCAAGAAG 0.657 NA 3 26 0 0 0.009096 0 0 BOD1L 259282 broad.mit.edu 37 4 13605956 13605956 + Silent SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:13605956A>G uc003gmz.1 - 10 2685 c.2568T>C c.(2566-2568)GGT>GGC p.G856G BOD1L_uc010idr.1_Silent_p.G193G NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 856 Lys-rich. DNA binding ovary(5)|breast(1) 6 GTTGCTTGGAACCCAGAGAAT 0.368 NA 3 82 0 0 0.000602 0 0 LGI2 55203 broad.mit.edu 37 4 25014018 25014018 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:25014018G>A uc003grf.2 - 7 858 c.759C>T c.(757-759)AAC>AAT p.N253N NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 253 EAR 1. extracellular region 0 Breast(46;0.173) GCACCATGCAGTTCTCCATGC 0.468 NA 49 281 0 0 0.00361 0 0 RBM47 54502 broad.mit.edu 37 4 40440430 40440430 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:40440430T>A uc003gvc.2 - 4 1191 c.481A>T c.(481-483)ATG>TTG p.M161L RBM47_uc003gvd.2_Missense_Mutation_p.M161L|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.M123L|RBM47_uc003gvg.1_Missense_Mutation_p.M161L NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 161 RRM 2. nucleus nucleotide binding|RNA binding breast(3) 3 CGCTTCTTCATCTTGGGGATC 0.627 NA 9 23 0 0 0.006214 0 0 PHOX2B 8929 broad.mit.edu 37 4 41750472 41750472 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:41750472C>A uc003gwf.3 - 1 516 c.156G>T c.(154-156)GGG>GGT p.G52G NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 52 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 CGGACGTGGCCCCAAAAGTGG 0.627 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 8 46 0.00307968 0.0032481 0.00308 1 0 PHOX2B 8929 broad.mit.edu 37 4 41750491 41750491 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:41750491G>T uc003gwf.3 - 1 497 c.137C>A c.(136-138)CCG>CAG p.P46Q NM_003924 NP_003915 Q99453 PHX2B_HUMAN paired-like homeobox 2b 46 positive regulation of transcription from RNA polymerase II promoter nuclear chromatin RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity autonomic_ganglia(7)|lung(2)|ovary(2)|central_nervous_system(1) 12 GGTCCTTATCGGGTTATACTG 0.627 NA Mis|F neuroblastoma neuroblastoma congenital central hypoventilation syndrome Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 6 52 0.00116845 0.00123961 0.001168 1 0 YIPF7 285525 broad.mit.edu 37 4 44626769 44626769 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:44626769C>A uc010ifx.1 - 5 546 c.529G>T c.(529-531)GGC>TGC p.G177C NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 177 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 GCACTCATGCCATACACATAA 0.478 NA 32 98 2.45108e-15 3.2681e-15 0.00874 1 0 GABRB1 2560 broad.mit.edu 37 4 47427876 47427876 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:47427876G>T uc003gxh.2 + 9 1640 c.1266G>T c.(1264-1266)GGG>GGT p.G422G GABRB1_uc011bze.1_Silent_p.G352G NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 422 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ACCGGCACGGGGTACCCAGCA 0.627 NA 12 65 2.61681e-11 3.2597e-11 0.00245 1 0 TXK 7294 broad.mit.edu 37 4 48114498 48114498 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:48114498C>T uc003gxx.3 - 4 292 c.206G>A c.(205-207)CGA>CAA p.R69Q TXK_uc003gxy.1_Missense_Mutation_p.R69Q NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 69 Nuclear localization signal (Potential). cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 CAGTGGCTTTCGTTTTGACGG 0.433 NA 16 304 0 0 0.00278 0 0 LRRC66 339977 broad.mit.edu 37 4 52860545 52860545 + Nonstop_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:52860545T>G uc003gzi.2 - 4 2656 c.2643A>C c.(2641-2643)TAA>TAC p.*881Y NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 881 integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 TGAAAGATTCTTATTTTAAAA 0.383 NA 12 159 0 0 0.001368 0 0 KIAA1211 57482 broad.mit.edu 37 4 57182405 57182405 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:57182405G>T uc003hbk.2 + 8 3128 c.2737G>T c.(2737-2739)GCC>TCC p.A913S KIAA1211_uc010iha.2_Missense_Mutation_p.A906S|KIAA1211_uc011bzz.1_Missense_Mutation_p.A823S|KIAA1211_uc003hbm.1_Missense_Mutation_p.A799S NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 913 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) GCGGAAGCAAGCCCCTTCCAC 0.687 NA 9 26 4.68919e-08 5.49276e-08 0.008291 1 0 EPHA5 2044 broad.mit.edu 37 4 66230783 66230783 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:66230783G>T uc003hcy.2 - 12 2381 c.2188C>A c.(2188-2190)CAG>AAG p.Q730K EPHA5_uc003hcx.2_Missense_Mutation_p.Q662K|EPHA5_uc003hcz.2_Missense_Mutation_p.Q708K|EPHA5_uc011cah.1_Missense_Mutation_p.Q731K|EPHA5_uc011cai.1_Missense_Mutation_p.Q709K|EPHA5_uc003hda.2_Missense_Mutation_p.Q731K NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 730 Cytoplasmic (Potential).|Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity lung(19)|stomach(2)|ovary(2)|central_nervous_system(1) 24 TGATCAAACTGTCCCATGATA 0.388 NA TSP Lung(17;0.13) 140 582 9.97597e-95 1.90354e-94 0.00361 1 0 STAP1 26228 broad.mit.edu 37 4 68436840 68436840 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:68436840T>A uc003hde.3 + 2 241 c.159T>A c.(157-159)ACT>ACA p.T53T STAP1_uc003hdf.2_Silent_p.T53T NM_012108 NP_036240 Q9ULZ2 STAP1_HUMAN signal transducing adaptor family member 1 53 PH. cellular membrane fusion|intracellular protein transport cytoplasm 0 GAGGAACTACTCTTTTCTTTT 0.308 NA 142 369 0 0 0.00361 0 0 UGT2A3 79799 broad.mit.edu 37 4 69811061 69811061 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:69811061C>T uc003hef.2 - 2 858 c.827G>A c.(826-828)GGA>GAA p.G276E UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 276 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 GTGCAATCCTCCAACAAACTC 0.368 NA 46 210 0 0 0.00361 0 0 UGT2A1 10941 broad.mit.edu 37 4 70513291 70513291 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:70513291C>A uc003hem.3 - 1 135 c.72G>T c.(70-72)TTG>TTT p.L24F UGT2A1_uc011caq.1_Missense_Mutation_p.L24F|UGT2A1_uc010ihu.2_Missense_Mutation_p.L24F|UGT2A1_uc010iht.2_Missense_Mutation_p.L24F NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 24 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 TTGGCCAAATCAAAACATTCC 0.398 NA 25 132 0.000147802 0.000162386 0.00632 1 0 CSN3 1448 broad.mit.edu 37 4 71114727 71114727 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:71114727G>C uc003hfe.3 + 4 158 c.100G>C c.(100-102)GAT>CAT p.D34H NM_005212 NP_005203 P07498 CASK_HUMAN casein kappa precursor 34 extracellular region protein binding ovary(2)|kidney(1)|central_nervous_system(1) 4 CCATGAGAATGATGAAAGACC 0.299 NA 31 157 0 0 0.003271 0 0 USO1 8615 broad.mit.edu 37 4 76703986 76703986 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:76703986T>A uc003hiu.2 + 8 1005 c.830T>A c.(829-831)GTG>GAG p.V277E USO1_uc003hiv.2_Missense_Mutation_p.V112E|USO1_uc003hiw.2_Missense_Mutation_p.V112E NM_003715 NP_003706 O60763 USO1_HUMAN USO1 homolog, vesicle docking protein 277 ARM 5.|Globular head. intracellular protein transport|vesicle fusion with Golgi apparatus cytosol|Golgi membrane protein binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) GCACAGAAAGTGACCAATCTA 0.338 NA 5 130 0 0 0.001984 0 0 FRAS1 80144 broad.mit.edu 37 4 79367972 79367972 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:79367972T>A uc003hlb.2 + 43 6388 c.5948T>A c.(5947-5949)CTG>CAG p.L1983Q NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1982 CSPG 8.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 TCTTTGAGCCTGCAAGACCTG 0.478 NA 5 48 0 0 0.000602 0 0 C4orf22 255119 broad.mit.edu 37 4 81866088 81866088 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:81866088C>A uc003hmf.2 + 5 650 c.601C>A c.(601-603)CCA>ACA p.P201T C4orf22_uc010ijp.2_Missense_Mutation_p.P218T NM_152770 NP_689983 Q6V702 CD022_HUMAN hypothetical protein LOC255119 201 skin(2) 2 TAATGTGGACCCAAAGGTAAT 0.323 NA 24 96 1.88708e-17 2.6196e-17 0.008361 1 0 SEC31A 22872 broad.mit.edu 37 4 83740390 83740390 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:83740390G>T uc003hnf.2 - 27 3664 c.3500C>A c.(3499-3501)ACC>AAC p.T1167N SEC31A_uc003hnd.2_Missense_Mutation_p.T336N|SEC31A_uc003hne.2_Missense_Mutation_p.T916N|SEC31A_uc011ccl.1_Missense_Mutation_p.T1113N|SEC31A_uc003hnl.2_Missense_Mutation_p.T1014N|SEC31A_uc003hng.2_Missense_Mutation_p.T1152N|SEC31A_uc003hnh.2_Missense_Mutation_p.T1167N|SEC31A_uc003hni.2_Missense_Mutation_p.T1053N|SEC31A_uc003hnj.2_Missense_Mutation_p.T1128N|SEC31A_uc011ccm.1_Missense_Mutation_p.T1147N|SEC31A_uc011ccn.1_Missense_Mutation_p.T1152N|SEC31A_uc003hnk.2_Missense_Mutation_p.T1128N|SEC31A_uc003hnm.2_Missense_Mutation_p.T1167N NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1167 COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/JAK2(4)|SEC31A/ALK(3) haematopoietic_and_lymphoid_tissue(4)|soft_tissue(3)|breast(1) 8 Hepatocellular(203;0.114) TAAACCACTGGTGATTGTTGG 0.393 NA 59 304 2.01178e-46 3.48193e-46 0.00361 1 0 MEPE 56955 broad.mit.edu 37 4 88767150 88767150 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:88767150C>A uc003hqy.2 + 4 1169 c.1130C>A c.(1129-1131)GCA>GAA p.A377E MEPE_uc010ikn.2_Missense_Mutation_p.A264E NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 377 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) TACCCTCCTGCACCCTCAAAA 0.438 NA 15 81 6.31663e-08 7.35918e-08 0.003163 1 0 MEPE 56955 broad.mit.edu 37 4 88767161 88767161 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:88767161G>C uc003hqy.2 + 4 1180 c.1141G>C c.(1141-1143)GAG>CAG p.E381Q MEPE_uc010ikn.2_Missense_Mutation_p.E268Q NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 381 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) ACCCTCAAAAGAGAAAAGAAA 0.443 NA 17 93 0 0 0.006122 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95210624 95210624 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:95210624G>T uc003htc.3 + 24 3275 c.3020G>T c.(3019-3021)GGT>GTT p.G1007V SMARCAD1_uc003htb.3_Missense_Mutation_p.G1009V|SMARCAD1_uc003htd.3_Missense_Mutation_p.G1009V|SMARCAD1_uc010ila.2_Missense_Mutation_p.G872V|SMARCAD1_uc011cdw.1_Missense_Mutation_p.G577V NM_020159 NP_064544 Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated 1007 DEGD box.|Helicase C-terminal. chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity skin(2)|ovary(1)|breast(1) 4 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) TGACCTACAGGTGATGAAGGG 0.269 NA 83 366 1.46924e-35 2.38614e-35 0.00361 1 0 C4orf37 285555 broad.mit.edu 37 4 98480220 98480220 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:98480220C>T uc003htt.1 - 11 1459 c.1369G>A c.(1369-1371)GAT>AAT p.D457N NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 457 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) CACATTATATCAGCAGCCATT 0.284 NA 59 249 0 0 0.00361 0 0 C4orf37 285555 broad.mit.edu 37 4 98865110 98865110 + Silent SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:98865110A>G uc003htt.1 - 8 1072 c.982T>C c.(982-984)TTG>CTG p.L328L NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 328 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) TTGTTAGTCAAGTTAGGTAAT 0.318 NA 11 430 0 0 0.001855 0 0 AGXT2L1 64850 broad.mit.edu 37 4 109670480 109670480 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:109670480C>T uc003hzc.2 - 8 1022 c.841G>A c.(841-843)GGC>AGC p.G281S AGXT2L1_uc010imc.2_Missense_Mutation_p.G275S|AGXT2L1_uc011cfm.1_Missense_Mutation_p.G241S|AGXT2L1_uc011cfn.1_Missense_Mutation_p.G208S|AGXT2L1_uc011cfo.1_Missense_Mutation_p.G223S NM_031279 NP_112569 Q8TBG4 AT2L1_HUMAN alanine-glyoxylate aminotransferase 2-like 1 281 cellular amino acid metabolic process mitochondrion alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000281) TGGCCGTTGCCCATCGGTTTT 0.468 NA 26 81 0 0 0.002096 0 0 COL25A1 84570 broad.mit.edu 37 4 109861765 109861765 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:109861765C>A uc003hze.1 - 9 1133 c.602G>T c.(601-603)GGC>GTC p.G201V COL25A1_uc003hzg.2_Missense_Mutation_p.G201V|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_5'UTR NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 201 Extracellular (Potential).|Collagen-like 2. collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GCCTGGAGGGCCAGGGGGTCC 0.562 NA 5 67 0.000157383 0.000172213 0.00308 1 0 NDST4 64579 broad.mit.edu 37 4 115773883 115773883 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:115773883G>C uc003ibu.2 - 8 2493 c.1814C>G c.(1813-1815)ACA>AGA p.T605R NDST4_uc010imw.2_RNA NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 605 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 4.|PAPS (By similarity). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) ATTTTTACCTGTTTTTTGTGG 0.303 NA 24 71 0 0 0.003954 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118006108 118006108 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:118006108C>A uc003ibv.3 - 1 629 c.442G>T c.(442-444)GAC>TAC p.D148Y NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 148 Lumenal (Potential).|TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 AGAGTTGGGTCTGACAGGCAG 0.383 NA 32 184 2.38352e-08 2.81334e-08 0.004289 1 0 SYNPO2 171024 broad.mit.edu 37 4 119948371 119948371 + Missense_Mutation SNP C C T rs35676119 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:119948371C>T uc003icm.3 + 3 1043 c.847C>T c.(847-849)CGG>TGG p.R283W SYNPO2_uc010ina.2_Missense_Mutation_p.R283W|SYNPO2_uc010inb.2_Missense_Mutation_p.R283W|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.R211W NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 283 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 GGGACTGCCCCGGGTGGAAGT 0.557 NA 28 65 0 0 0.002445 0 0 SYNPO2 171024 broad.mit.edu 37 4 119951975 119951975 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:119951975G>T uc003icm.3 + 4 2241 c.2045G>T c.(2044-2046)GGA>GTA p.G682V SYNPO2_uc010ina.2_Missense_Mutation_p.G682V|SYNPO2_uc010inb.2_Missense_Mutation_p.G682V|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.G610V NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 682 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AAAAGAACAGGAATATTGCAG 0.498 NA 9 113 7.48243e-07 8.5877e-07 0.006214 1 0 PRDM5 11107 broad.mit.edu 37 4 121631535 121631535 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:121631535C>T uc003idn.2 - 15 1907 c.1657G>A c.(1657-1659)GCC>ACC p.A553T PRDM5_uc003ido.2_Missense_Mutation_p.A522T|PRDM5_uc010ine.2_Missense_Mutation_p.G493D NM_018699 NP_061169 Q9NQX1 PRDM5_HUMAN PR domain containing 5 553 C2H2-type 14. histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding central_nervous_system(1)|pancreas(1) 2 TGGCTGAAGGCCTTGCTGCAC 0.483 NA 60 208 0 0 0.00361 0 0 KIAA1109 84162 broad.mit.edu 37 4 123260563 123260563 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:123260563G>T uc003ieh.2 + 70 12397 c.12352G>T c.(12352-12354)GGT>TGT p.G4118C KIAA1109_uc003iem.2_Missense_Mutation_p.G474C|KIAA1109_uc003ien.2_Missense_Mutation_p.G52C NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 4118 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 TGGAATACCAGGTATAGATAA 0.299 NA 15 45 4.14922e-12 5.27816e-12 0.004007 1 0 INTU 27152 broad.mit.edu 37 4 128632153 128632153 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:128632153G>T uc003ifk.1 + 14 2525 c.2455G>T c.(2455-2457)GAG>TAG p.E819* INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 819 ovary(1) 1 TACCCTTGAAGAGGTGGCACA 0.418 NA 47 172 2.74695e-27 4.23211e-27 0.00361 1 0 PCDH10 57575 broad.mit.edu 37 4 134084177 134084177 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:134084177G>T uc003iha.2 + 4 3669 c.2843G>T c.(2842-2844)GGC>GTC p.G948V NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 948 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AAAGCTCTGGGCCACTCAGAT 0.483 NA 28 126 6.28921e-32 1.00182e-31 0.003271 1 0 ELF2 1998 broad.mit.edu 37 4 139980627 139980627 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:139980627G>C uc003ihp.1 - 9 1462 c.1256C>G c.(1255-1257)CCA>CGA p.P419R ELF2_uc003ihm.1_Missense_Mutation_p.P371R|ELF2_uc003ihn.1_Missense_Mutation_p.P359R|ELF2_uc003iho.1_Missense_Mutation_p.P342R|ELF2_uc011chc.1_Missense_Mutation_p.P234R NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 431 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) GACTACCTTTGGAGAGGTCGC 0.438 NA 9 326 0 0 0.006214 0 0 ELF2 1998 broad.mit.edu 37 4 139988852 139988852 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:139988852G>C uc003ihp.1 - 6 769 c.563C>G c.(562-564)CCA>CGA p.P188R ELF2_uc003ihm.1_Missense_Mutation_p.P140R|ELF2_uc003ihn.1_Missense_Mutation_p.P128R|ELF2_uc003iho.1_Intron|ELF2_uc010ioh.2_Missense_Mutation_p.P128R NM_201999 NP_973728 Q15723 ELF2_HUMAN E74-like factor 2 (ets domain transcription 200 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter cytoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 all_hematologic(180;0.162) TCCTTCTCTTGGTTTCTTCTT 0.358 NA 33 103 0 0 0.006999 0 0 SLC10A7 84068 broad.mit.edu 37 4 147425062 147425062 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:147425062C>A uc010ioz.2 - 4 589 c.335G>T c.(334-336)GGT>GTT p.G112V SLC10A7_uc003ikr.2_Missense_Mutation_p.G112V|SLC10A7_uc010ipa.2_Missense_Mutation_p.G112V|SLC10A7_uc003iks.2_RNA|SLC10A7_uc003ikt.2_Missense_Mutation_p.G112V NM_001029998 NP_001025169 Q0GE19 NTCP7_HUMAN solute carrier family 10 (sodium/bile acid 112 integral to membrane bile acid:sodium symporter activity 0 all_hematologic(180;0.151) AGGCATGCAACCTACTGTCTG 0.373 NA 19 108 1.87028e-06 2.12846e-06 0.001882 1 0 TIGD4 201798 broad.mit.edu 37 4 153691700 153691700 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:153691700C>A uc003imy.2 - 2 1239 c.457G>T c.(457-459)GGT>TGT p.G153C NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN tigger transposable element derived 4 153 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|DNA binding ovary(1) 1 all_hematologic(180;0.093) ACTGGTACACCTGTAGCTTCT 0.363 NA 16 42 0.00121646 0.00128928 0.008871 1 0 ARFIP1 27236 broad.mit.edu 37 4 153802270 153802270 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:153802270G>T uc003imz.2 + 6 843 c.567G>T c.(565-567)ATG>ATT p.M189I ARFIP1_uc003inb.2_Missense_Mutation_p.M157I|ARFIP1_uc003ina.2_Missense_Mutation_p.M157I|ARFIP1_uc003inc.2_Missense_Mutation_p.M189I|ARFIP1_uc011cij.1_Intron NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 189 AH. intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) TTTTCCAGATGGTACATACCC 0.348 NA 40 137 4.54978e-40 7.63007e-40 0.00361 1 0 FHDC1 85462 broad.mit.edu 37 4 153889217 153889217 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:153889217G>A uc003inf.2 + 9 1261 c.1186G>A c.(1186-1188)GAA>AAA p.E396K NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 396 FH2. actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) GCGGGATGGTGAACTTTGTCA 0.453 NA 29 93 0 0 0.009535 0 0 DCHS2 54798 broad.mit.edu 37 4 155298498 155298498 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:155298498G>T uc003inw.2 - 3 333 c.333C>A c.(331-333)ATC>ATA p.I111I DCHS2_uc003inx.2_Silent_p.I717I NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 111 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CATGAGGGTCGATCCGGAATG 0.463 NA 158 506 3.24732e-118 6.25152e-118 0.00361 1 0 FGB 2244 broad.mit.edu 37 4 155490753 155490753 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:155490753G>A uc003ioa.3 + 7 1085 c.1046G>A c.(1045-1047)GGA>GAA p.G349E FGB_uc003iob.3_Intron|FGB_uc010ipv.2_Missense_Mutation_p.G287E|FGB_uc010ipw.2_Intron|FGB_uc003ioc.3_Missense_Mutation_p.G130E NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 349 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GACTGGAAAGGAGACAAAGTA 0.413 NSCLC(106;1133 1613 21870 46110 52656) NA 15 283 0 0 0.006122 0 0 LRAT 9227 broad.mit.edu 37 4 155670250 155670250 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:155670250G>T uc003iom.1 + 2 982 c.655G>T c.(655-657)GCA>TCA p.A219S LRAT_uc003ion.1_Missense_Mutation_p.A219S NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 219 Lumenal (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) TACCCTTCCTGCAATTTTTAT 0.393 NA 30 153 7.83172e-31 1.24203e-30 0.004289 1 0 NPY2R 4887 broad.mit.edu 37 4 156135962 156135962 + Missense_Mutation SNP G G T rs147783618 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:156135962G>T uc003ioq.2 + 2 1366 c.871G>T c.(871-873)GTT>TTT p.V291F NPY2R_uc003ior.2_Missense_Mutation_p.V291F NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 291 Extracellular (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) CCAGCTTGCCGTTGACATTGA 0.527 NA 14 85 9.05144e-12 1.14067e-11 0.001855 1 0 RAPGEF2 9693 broad.mit.edu 37 4 160273941 160273941 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:160273941G>T uc003iqg.3 + 21 3797 c.3487G>T c.(3487-3489)GTG>TTG p.V1163L NM_014247 NP_055062 Q9Y4G8 RPGF2_HUMAN Rap guanine nucleotide exchange factor 2 1163 Ser-rich. cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity lung(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.0817) TTTTGACTCAGTGCCAGTCTC 0.478 NA 33 149 2.48696e-23 3.69452e-23 0.003271 1 0 NPY1R 4886 broad.mit.edu 37 4 164247270 164247270 + Missense_Mutation SNP C C T rs148479836 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:164247270C>T uc003iqm.1 - 2 703 c.437G>A c.(436-438)CGA>CAA p.R146Q NPY1R_uc011cjj.1_Intron NM_000909 NP_000900 P25929 NPY1R_HUMAN neuropeptide Y receptor Y1 146 Cytoplasmic (Potential). inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding lung(1)|pancreas(1) 2 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TCTCCACCCTCGAGGGTTGAT 0.423 NA 7 276 0 0 0.001984 0 0 TKTL2 84076 broad.mit.edu 37 4 164393898 164393898 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:164393898G>T uc003iqp.3 - 1 1150 c.989C>A c.(988-990)GCT>GAT p.A330D NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 330 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) gcccagtttagccagagccaa 0.199 NA 43 195 1.32667e-27 2.04979e-27 0.00361 1 0 ANP32C 23520 broad.mit.edu 37 4 165118379 165118379 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:165118379C>A uc011cjk.1 - 1 485 c.485G>T c.(484-486)GGC>GTC p.G162V MARCH1_uc003iqs.1_Intron NM_012403 NP_036535 O43423 AN32C_HUMAN acidic nuclear phosphoprotein 32C 162 Asp/Glu-rich (highly acidic). 0 all_hematologic(180;0.203) Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223) KIRC - Kidney renal clear cell carcinoma(143;0.242) GTCATCCAGGCCCTCCACGTG 0.418 NA 19 73 2.32416e-17 3.2222e-17 0.002299 1 0 Unknown 0 broad.mit.edu 37 4 165981615 165981615 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:165981615C>A uc011cjl.1 + 1 1316 c.1316C>A c.(1315-1317)ACT>AAT p.T439N NM_001105575 NP_001099045 tripartite motif-containing 75 NA TGTACTTTCACTGACACTTTT 0.443 NA 33 41 1.06647e-15 1.4308e-15 0.003755 1 0 TLL1 7092 broad.mit.edu 37 4 166981296 166981296 + Nonsense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:166981296A>T uc003irh.1 + 15 2610 c.1963A>T c.(1963-1965)AGA>TGA p.R655* TLL1_uc011cjn.1_Nonsense_Mutation_p.R678*|TLL1_uc011cjo.1_Nonsense_Mutation_p.R479* NM_012464 NP_036596 O43897 TLL1_HUMAN tolloid-like 1 precursor 655 CUB 3. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) AACCCAGTACAGAATTTCTGT 0.418 NA 29 96 0 0 0.005524 0 0 ACSL1 2180 broad.mit.edu 37 4 185697670 185697670 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:185697670C>A uc003iww.2 - 7 1018 c.724G>T c.(724-726)GGG>TGG p.G242W ACSL1_uc011ckm.1_Missense_Mutation_p.G71W|ACSL1_uc003iwt.1_Missense_Mutation_p.G242W|ACSL1_uc003iwu.1_Missense_Mutation_p.G242W|ACSL1_uc011ckn.1_Missense_Mutation_p.G208W|ACSL1_uc003iwv.1_Missense_Mutation_p.G242W|ACSL1_uc010ise.1_5'Flank NM_001995 NP_001986 P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 242 Cytoplasmic (Potential). digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity ovary(2) 2 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACTTCCACCCCACACCTCTGG 0.522 NA 25 103 7.01153e-11 8.67406e-11 0.007291 1 0 TRIML1 339976 broad.mit.edu 37 4 189068505 189068505 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:189068505C>A uc003izm.1 + 6 1501 c.1386C>A c.(1384-1386)TGC>TGA p.C462* TRIML1_uc003izn.1_Nonsense_Mutation_p.C186* NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 462 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TCACCATCTGCTCACTGAACA 0.562 Melanoma(31;213 1036 16579 23968 32372) NA 9 30 1.3612e-06 1.55074e-06 0.003163 1 0 SLC6A19 340024 broad.mit.edu 37 5 1212589 1212589 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:1212589C>T uc003jbw.3 + 4 709 c.653C>T c.(652-654)ACC>ATC p.T218I NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 218 Cytoplasmic (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GGCATCGAGACCACCGGGAAG 0.672 NA 9 43 0 0 0.006214 0 0 SLC6A19 340024 broad.mit.edu 37 5 1213592 1213592 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:1213592C>A uc003jbw.3 + 5 734 c.678C>A c.(676-678)ACC>ACA p.T226T NM_001003841 NP_001003841 Q695T7 S6A19_HUMAN solute carrier family 6, member 19 226 Helical; Name=5; (Potential). cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity 0 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TGTACATCACCTCCACGCTGC 0.527 NA 3 15 0.00024832 0.000270348 0.009096 1 0 ADAMTS16 170690 broad.mit.edu 37 5 5319167 5319167 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:5319167C>A uc003jdl.2 + 23 3729 c.3591C>A c.(3589-3591)TGC>TGA p.C1197* NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 1197 PLAC. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TCCACTGGTGCTACCTGGTAC 0.532 NA 41 99 3.54909e-21 5.13809e-21 0.002852 1 0 CTNND2 1501 broad.mit.edu 37 5 11346694 11346694 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:11346694C>A uc003jfa.1 - 9 1563 c.1418G>T c.(1417-1419)GGC>GTC p.G473V CTNND2_uc010itt.2_Missense_Mutation_p.G382V|CTNND2_uc011cmy.1_Missense_Mutation_p.G136V|CTNND2_uc011cmz.1_Missense_Mutation_p.G40V|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.G40V NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 473 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 GTGCTGGCTGCCTGTGCGCTG 0.617 NA 11 38 6.40141e-05 7.06904e-05 0.000978 1 0 CDH12 1010 broad.mit.edu 37 5 21765146 21765146 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:21765146G>A uc010iuc.2 - 9 1914 c.1456C>T c.(1456-1458)CCT>TCT p.P486S CDH12_uc011cno.1_Missense_Mutation_p.P446S|CDH12_uc003jgk.2_Missense_Mutation_p.P486S|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 486 Extracellular (Potential).|Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 ATTTCTGGAGGAAATTCATTT 0.338 NA HNSCC(59;0.17) 14 319 0 0 0.00499 0 0 CDH6 1004 broad.mit.edu 37 5 31297485 31297485 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:31297485C>G uc003jhe.1 + 4 939 c.613C>G c.(613-615)CAG>GAG p.Q205E CDH6_uc003jhd.1_Missense_Mutation_p.Q205E NM_004932 NP_004923 P55285 CADH6_HUMAN cadherin 6, type 2 preproprotein 205 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding ovary(4)|skin(2)|large_intestine(1) 7 TCTACAGGGACAGCCCTATTT 0.373 NA 20 311 0 0 0.008871 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33631016 33631016 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:33631016G>A uc003jia.1 - 13 2054 c.1891C>T c.(1891-1893)CAT>TAT p.H631Y ADAMTS12_uc010iuq.1_Intron NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 631 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCACAAGGATGTGCTGAAGGG 0.488 NA HNSCC(64;0.19) 15 451 0 0 0.008871 0 0 AGXT2 64902 broad.mit.edu 37 5 34998886 34998886 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:34998886C>G uc003jjf.2 - 14 1562 c.1483G>C c.(1483-1485)GAT>CAT p.D495H AGXT2_uc003jje.1_Missense_Mutation_p.D148H|AGXT2_uc011com.1_Missense_Mutation_p.D420H NM_031900 NP_114106 Q9BYV1 AGT2_HUMAN alanine-glyoxylate aminotransferase 2 precursor 495 glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process mitochondrial matrix (R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding ovary(3)|skin(1) 4 all_lung(31;4.52e-05) COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229) GBM - Glioblastoma multiforme(108;0.181) Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119) ACTGCAAAATCAACTTCTGGT 0.358 NA 12 644 0 0 0.00499 0 0 SPEF2 79925 broad.mit.edu 37 5 35691149 35691149 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:35691149G>T uc003jjo.2 + 11 1646 c.1535G>T c.(1534-1536)GGA>GTA p.G512V SPEF2_uc003jjq.3_Missense_Mutation_p.G512V|SPEF2_uc003jjp.1_Missense_Mutation_p.G3V NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 512 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AACATGGTTGGAGAGTGGGCC 0.338 NA 14 59 1.5739e-10 1.92941e-10 0.004007 1 0 SPEF2 79925 broad.mit.edu 37 5 35779450 35779450 + Splice_Site SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:35779450T>G uc003jjo.2 + 30 4558 c.4447_splice c.e30+2 p.G1483_splice SPEF2_uc003jjp.1_Splice_Site_p.G969_splice|SPEF2_uc003jjr.2_Splice_Site NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CACCTAAAGGTAGGAAAAATA 0.388 NA 10 207 0 0 0.006214 0 0 SPEF2 79925 broad.mit.edu 37 5 35793323 35793323 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:35793323G>T uc003jjo.2 + 32 4728 c.4617G>T c.(4615-4617)CTG>CTT p.L1539L SPEF2_uc003jjp.1_Silent_p.L1025L|SPEF2_uc003jjr.2_Silent_p.L594L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1539 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGAAGTTCCTGTTAGTAACCT 0.448 NA 91 396 1.62402e-62 2.97279e-62 0.00361 1 0 GDNF 2668 broad.mit.edu 37 5 37815930 37815930 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:37815930C>A uc011cpi.1 - 3 659 c.459G>T c.(457-459)GAG>GAT p.E153D GDNF_uc011cpc.1_Missense_Mutation_p.E75D|GDNF_uc011cpd.1_Missense_Mutation_p.E101D|GDNF_uc011cpe.1_Missense_Mutation_p.E127D|GDNF_uc011cpf.1_Missense_Mutation_p.E127D|GDNF_uc011cpg.1_Missense_Mutation_p.E170D|GDNF_uc011cph.1_Missense_Mutation_p.E144D NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 153 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) CGTACGTTGTCTCAGCTGCAT 0.443 NA 130 327 7.83929e-65 1.44478e-64 0.00361 1 0 RICTOR 253260 broad.mit.edu 37 5 38947422 38947422 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:38947422C>A uc003jlp.2 - 32 4282 c.4258G>T c.(4258-4260)GGT>TGT p.G1420C RICTOR_uc003jlo.2_Missense_Mutation_p.G1444C|RICTOR_uc010ivf.2_Missense_Mutation_p.G1135C NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 1420 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TCATCTGAACCCCCATATGTG 0.383 NA 64 434 3.56499e-28 5.54782e-28 0.00361 1 0 RICTOR 253260 broad.mit.edu 37 5 39021164 39021164 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:39021164C>A uc003jlp.2 - 3 196 c.172G>T c.(172-174)GGC>TGC p.G58C RICTOR_uc003jlo.2_Missense_Mutation_p.G58C|RICTOR_uc010ivf.2_Translation_Start_Site|RICTOR_uc003jlq.1_Missense_Mutation_p.G42C|RICTOR_uc011cpk.1_Missense_Mutation_p.G58C NM_152756 NP_689969 Q6R327 RICTR_HUMAN rapamycin-insensitive companion of mTOR 58 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding ovary(3)|lung(3)|skin(2)|kidney(1)|central_nervous_system(1) 10 all_lung(31;0.000396) TTCAGATGGCCTAGCTTTCTC 0.328 NA 63 480 1.45978e-39 2.43673e-39 0.00361 1 0 C7 730 broad.mit.edu 37 5 40964907 40964907 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:40964907T>A uc003jmh.2 + 14 1928 c.1814T>A c.(1813-1815)CTT>CAT p.L605H C7_uc011cpn.1_RNA NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor 605 Sushi 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) GGATACTCTCTTATTGGAAAC 0.393 NA 38 800 0 0 0.00361 0 0 PARP8 79668 broad.mit.edu 37 5 50091127 50091127 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:50091127G>A uc003jon.3 + 13 1486 c.1304G>A c.(1303-1305)AGT>AAT p.S435N PARP8_uc011cpz.1_Missense_Mutation_p.S327N|PARP8_uc003joo.2_Missense_Mutation_p.S435N|PARP8_uc003jop.2_Missense_Mutation_p.S435N NM_024615 NP_078891 Q8N3A8 PARP8_HUMAN poly (ADP-ribose) polymerase family, member 8 435 intracellular NAD+ ADP-ribosyltransferase activity lung(3)|large_intestine(1)|ovary(1) 5 Lung NSC(810;0.0305)|Breast(144;0.222) TCCTACTCCAGTGCCCCCAAG 0.443 NA 30 160 0 0 0.008361 0 0 RAB3C 115827 broad.mit.edu 37 5 58120870 58120870 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:58120870C>A uc003jrp.2 + 4 474 c.377C>A c.(376-378)ACT>AAT p.T126N NM_138453 NP_612462 Q96E17 RAB3C_HUMAN RAB3C, member RAS oncogene family 126 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding ovary(1)|central_nervous_system(1) 2 all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664) OV - Ovarian serous cystadenocarcinoma(10;1.8e-34) TTTAGGTCAACTCAAATCAAA 0.418 NA 68 405 1.7458e-18 2.46789e-18 0.00361 1 0 BDP1 55814 broad.mit.edu 37 5 70797393 70797393 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:70797393A>T uc003kbp.1 + 14 2224 c.1961A>T c.(1960-1962)CAC>CTC p.H654L BDP1_uc003kbn.1_Missense_Mutation_p.H654L|BDP1_uc003kbo.2_Missense_Mutation_p.H654L NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 654 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TCACAGAACCACGTGGAAAAA 0.303 NA 27 117 0 0 0.002445 0 0 RGNEF 64283 broad.mit.edu 37 5 73165952 73165952 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:73165952A>T uc011csq.1 + 20 2495 c.2484A>T c.(2482-2484)GCA>GCT p.A828A RGNEF_uc003kcx.2_Silent_p.A828A|RGNEF_uc010izf.2_Silent_p.A828A|RGNEF_uc011csr.1_Silent_p.A515A NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 828 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) AGTTTGAAGCAGAATCTTGGA 0.408 NA 94 309 0 0 0.00361 0 0 RGNEF 64283 broad.mit.edu 37 5 73189085 73189085 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:73189085C>T uc011csq.1 + 27 3641 c.3630C>T c.(3628-3630)GCC>GCT p.A1210A RGNEF_uc003kcx.2_Silent_p.A1210A|RGNEF_uc010izf.2_Silent_p.A1210A|RGNEF_uc011csr.1_Silent_p.A897A|RGNEF_uc003kcz.3_Silent_p.A174A|RGNEF_uc003kda.3_Silent_p.A174A NM_001080479 NP_001073948 Q8N1W1 RGNEF_HUMAN Rho-guanine nucleotide exchange factor 1210 cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction cytoplasm|plasma membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding 0 Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.25e-51) AAGCTGAAGCCAGAGTGGCCA 0.473 NA 7 13 0 0 0.006214 0 0 IQGAP2 10788 broad.mit.edu 37 5 75757446 75757446 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:75757446G>T uc003kek.2 + 2 320 c.98G>T c.(97-99)CGG>CTG p.R33L NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 33 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GAGAGGAGGCGGCAGAACATT 0.423 NA 64 247 1.36236e-49 2.37698e-49 0.00361 1 0 PDE8B 8622 broad.mit.edu 37 5 76607850 76607850 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:76607850C>T uc003kfa.2 + 2 416 c.371C>T c.(370-372)CCC>CTC p.P124L PDE8B_uc003kfb.2_Intron|PDE8B_uc003kfc.2_Missense_Mutation_p.P124L|PDE8B_uc003kfd.2_Missense_Mutation_p.P124L|PDE8B_uc003kfe.2_Missense_Mutation_p.P124L NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 124 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) CGCATCGGGCCCATGAGACTG 0.408 NA 20 673 0 0 0.003954 0 0 JMY 133746 broad.mit.edu 37 5 78610543 78610543 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:78610543G>T uc003kfx.3 + 9 3048 c.2528G>T c.(2527-2529)AGA>ATA p.R843I JMY_uc003kfw.1_Missense_Mutation_p.R489I NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 843 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) GATCTGCCTAGAAAGGAGGGG 0.418 NA 22 118 1.32181e-22 1.95555e-22 0.007291 1 0 RASGRF2 5924 broad.mit.edu 37 5 80408586 80408586 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:80408586C>A uc003kha.1 + 14 1996 c.1996C>A c.(1996-1998)CTG>ATG p.L666M RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 666 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CAACACCTTTCTGCACACCTA 0.512 NA 178 620 5.16896e-63 9.47789e-63 0.00361 1 0 RASGRF2 5924 broad.mit.edu 37 5 80408635 80408635 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:80408635T>C uc003kha.1 + 14 2045 c.2045T>C c.(2044-2046)CTC>CCC p.L682P RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 682 N-terminal Ras-GEF. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CTGGGGAAACTCTCCGACATA 0.493 NA 109 358 0 0 0.00361 0 0 VCAN 1462 broad.mit.edu 37 5 82837202 82837202 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:82837202G>C uc003kii.3 + 8 8736 c.8380G>C c.(8380-8382)GAG>CAG p.E2794Q VCAN_uc003kij.3_Missense_Mutation_p.E1807Q|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E1458Q NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2794 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GAGTGTAACAGAGGTGCCTGA 0.433 NA 25 358 0 0 0.002096 0 0 EDIL3 10085 broad.mit.edu 37 5 83239283 83239283 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:83239283C>G uc003kio.1 - 11 1817 c.1398G>C c.(1396-1398)AGG>AGC p.R466S EDIL3_uc003kip.1_Missense_Mutation_p.R456S NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 466 F5/8 type C 2. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) GCAATGTGATCCTCCCGTACC 0.488 NA 50 193 0 0 0.00361 0 0 TMEM161B 153396 broad.mit.edu 37 5 87494880 87494880 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:87494880C>A uc003kjc.2 - 10 1127 c.1002G>T c.(1000-1002)CTG>CTT p.L334L TMEM161B_uc011cty.1_Silent_p.L323L|TMEM161B_uc010jax.2_RNA|TMEM161B_uc011ctx.1_Silent_p.L125L NM_153354 NP_699185 Q8NDZ6 T161B_HUMAN transmembrane protein 161B 334 integral to membrane skin(2) 2 all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26) AATAAGCTTGCAGGTGACTAC 0.423 NA 13 34 4.7546e-09 5.69287e-09 0.004007 1 0 MEF2C 4208 broad.mit.edu 37 5 88057031 88057031 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:88057031C>A uc003kjj.2 - 4 1046 c.373G>T c.(373-375)GAT>TAT p.D125Y MEF2C_uc003kji.2_Missense_Mutation_p.D125Y|MEF2C_uc003kjk.2_Missense_Mutation_p.D125Y|MEF2C_uc003kjm.2_Intron|MEF2C_uc003kjl.2_Intron NM_002397 NP_002388 Q06413 MEF2C_HUMAN myocyte enhancer factor 2C isoform 1 125 apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway nuclear speck activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding lung(3)|breast(2)|ovary(1)|large_intestine(1) 7 all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1) OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25) ATCATTAGATCAATATCTTCG 0.453 NA HNSCC(66;0.2) 53 326 4.60343e-24 6.90514e-24 0.00361 1 0 GPR98 84059 broad.mit.edu 37 5 89986703 89986703 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:89986703G>T uc003kju.2 + 31 6892 c.6796G>T c.(6796-6798)GGC>TGC p.G2266C GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 2266 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGGGACACTCGGCAATGTTAC 0.458 NA 7 34 0.00198382 0.0020964 0.001984 1 0 MAN2A1 4124 broad.mit.edu 37 5 109117174 109117174 + Silent SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:109117174G>C uc003kou.1 + 9 2415 c.1452G>C c.(1450-1452)TCG>TCC p.S484S NM_002372 NP_002363 Q16706 MA2A1_HUMAN mannosidase, alpha, class 2A, member 1 484 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141) AGGGCCAATCGATGTTCCCTG 0.378 NA 16 94 0 0 0.00278 0 0 WDR36 134430 broad.mit.edu 37 5 110440497 110440497 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:110440497A>T uc003kpd.2 + 9 1293 c.1176A>T c.(1174-1176)GGA>GGT p.G392G WDR36_uc010jbu.2_RNA NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 392 WD 5. response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) GACAGAATGGACAGCAGATTC 0.398 NA 47 488 0 0 0.00361 0 0 WDR36 134430 broad.mit.edu 37 5 110446486 110446486 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:110446486G>T uc003kpd.2 + 14 1727 c.1610_splice c.e14-1 p.A537_splice WDR36_uc010jbu.2_Splice_Site NM_139281 NP_644810 Q8NI36 WDR36_HUMAN WD repeat domain 36 response to stimulus|rRNA processing|visual perception small-subunit processome ovary(1)|skin(1) 2 all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111) CTACCTTACAGCTCACAAGGG 0.373 NA 9 35 0.000673444 0.000722264 0.008291 1 0 CAMK4 814 broad.mit.edu 37 5 110730473 110730473 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:110730473C>A uc011cvj.1 + 6 551 c.452C>A c.(451-453)GCA>GAA p.A151E CAMK4_uc003kpf.2_Missense_Mutation_p.A151E|CAMK4_uc010jbv.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 151 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATCCTGGAGGCAGTTGCTGTA 0.408 NA 77 265 1.49072e-33 2.39225e-33 0.00361 1 0 PRR16 51334 broad.mit.edu 37 5 120022158 120022158 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:120022158G>T uc003ksq.2 + 2 832 c.669G>T c.(667-669)CGG>CGT p.R223R PRR16_uc003ksp.2_Silent_p.R200R|PRR16_uc003ksr.2_Silent_p.R153R NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 223 Pro-rich. pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GTGATACCCGGTATAACATAA 0.512 NA 35 169 2.20914e-33 3.53463e-33 0.002852 1 0 FBN2 2201 broad.mit.edu 37 5 127648343 127648343 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:127648343C>T uc003kuu.2 - 37 5301 c.4862G>A c.(4861-4863)TGC>TAC p.C1621Y NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1621 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) GACAGGGGGGCATGTCTCACA 0.512 NA 22 799 0 0 0.003954 0 0 ISOC1 51015 broad.mit.edu 37 5 128440942 128440942 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:128440942G>A uc003kva.2 + 3 512 c.494G>A c.(493-495)GGG>GAG p.G165E NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 165 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) AAAGGTCTTGGGAGCACGGTT 0.383 NA 9 34 0 0 0.000978 0 0 AFF4 27125 broad.mit.edu 37 5 132270357 132270357 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:132270357G>A uc003kyd.2 - 3 808 c.400C>T c.(400-402)CAG>TAG p.Q134* AFF4_uc011cxk.1_5'UTR|AFF4_uc003kye.1_Nonsense_Mutation_p.Q134*|AFF4_uc003kyf.3_Nonsense_Mutation_p.Q134* NM_014423 NP_055238 Q9UHB7 AFF4_HUMAN ALL1 fused gene from 5q31 134 Ser-rich. transcription from RNA polymerase II promoter mitochondrion|nucleolus protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|kidney(2)|skin(1) 5 all_cancers(142;0.145)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTGGTCCGCTGGCTACTATGT 0.532 Ovarian(126;889 1733 2942 10745 11605) NA 41 95 0 0 0.007835 0 0 BRD8 10902 broad.mit.edu 37 5 137476521 137476521 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:137476521C>T uc003lcf.1 - 26 3543 c.3488G>A c.(3487-3489)CGC>CAC p.R1163H BRD8_uc003lcc.1_Intron|NME5_uc003lce.2_5'Flank NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 1163 Bromo 2. cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GGCCATGGTGCGAATCCGACC 0.443 NA 28 729 0 0 0.002096 0 0 PCDHA3 56145 broad.mit.edu 37 5 140181997 140181997 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140181997C>T uc003lhf.2 + 1 1215 c.1215C>T c.(1213-1215)TAC>TAT p.Y405Y PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Silent_p.Y405Y NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 405 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAATTACTACTCATTGGTGC 0.627 NA 52 129 0 0 0.00361 0 0 PCDHA8 56140 broad.mit.edu 37 5 140222743 140222743 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140222743C>A uc003lhs.2 + 1 1837 c.1837C>A c.(1837-1839)CCA>ACA p.P613T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.P613T NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 613 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAGCTGCAGCCAGCTGCAAG 0.687 NA 13 37 5.01169e-05 5.54005e-05 0.00499 1 0 PCDHA12 56137 broad.mit.edu 37 5 140255192 140255192 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140255192G>T uc003lic.2 + 1 262 c.135G>T c.(133-135)GTG>GTT p.V45V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc011daf.1_Silent_p.V45V NM_018903 NP_061726 Q9UN75 PCDAC_HUMAN protocadherin alpha 12 isoform 1 precursor 45 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACCTTCGTGGGCCGCATCG 0.657 Pancreas(113;759 1672 13322 24104 50104) NA 10 16 3.35478e-16 4.55743e-16 0.003163 1 0 PCDHB7 56129 broad.mit.edu 37 5 140553818 140553818 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140553818C>A uc003lit.2 + 1 1576 c.1402C>A c.(1402-1404)CTG>ATG p.L468M NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 468 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAGCCCCGCCCTGCCCATCGG 0.632 NA 17 71 1.12875e-08 1.33815e-08 0.00632 1 0 PCDHB8 56128 broad.mit.edu 37 5 140559208 140559208 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140559208G>A uc011dai.1 + 1 1779 c.1593G>A c.(1591-1593)CGG>CGA p.R531R PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 531 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCGAGTTCCGGGTGGGCGCTT 0.672 NA 4 54 0 0 0.001168 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140712339 140712339 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140712339G>T uc003lji.1 + 1 2088 c.2088G>T c.(2086-2088)GCG>GCT p.A696A PCDHGA1_uc011dan.1_Silent_p.A696A NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 696 Helical; (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) TGGTGGTGGCGGCGGCCGCGG 0.672 NA 24 67 3.62531e-18 5.10473e-18 0.004289 1 0 PCDHGA8 9708 broad.mit.edu 37 5 140773147 140773147 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140773147C>A uc003lkd.1 + 1 1665 c.767C>A c.(766-768)CCC>CAC p.P256H 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_uc003lkb.3_Missense_Mutation_p.P256H NM_032088 NP_114477 Q9Y5G5 PCDG8_HUMAN protocadherin gamma subfamily A, 8 isoform 1 256 Cadherin 3.|Extracellular (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) GAGAACATGCCCCCAGGCACG 0.488 NA 20 35 2.89027e-11 3.59619e-11 0.002299 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140783353 140783353 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140783353A>T uc003lkh.1 + 1 834 c.834A>T c.(832-834)GCA>GCT p.A278A 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_uc011dax.1_Silent_p.A278A NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 278 Cadherin 3.|Extracellular (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) GAAAAGTGGCATACAAATTCT 0.418 NA 27 66 0 0 0.009535 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784676 140784676 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:140784676G>T uc003lkh.1 + 1 2157 c.2157G>T c.(2155-2157)TGG>TGT p.W719C 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_uc011dax.1_Missense_Mutation_p.W719C NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 719 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) TGAGGCACTGGCACTCCTCGC 0.587 NA 19 38 1.33834e-09 1.61138e-09 0.007413 1 0 PPP2R2B 5521 broad.mit.edu 37 5 145979967 145979967 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:145979967A>C uc003loe.2 - 7 1372 c.847T>G c.(847-849)TCG>GCG p.S283A PPP2R2B_uc010jgm.2_Missense_Mutation_p.S272A|PPP2R2B_uc003log.3_Missense_Mutation_p.S283A|PPP2R2B_uc003lof.3_Missense_Mutation_p.S283A|PPP2R2B_uc003loi.3_Missense_Mutation_p.S286A|PPP2R2B_uc003loh.3_Missense_Mutation_p.S283A|PPP2R2B_uc003loj.3_Missense_Mutation_p.S263A|PPP2R2B_uc003lok.3_Missense_Mutation_p.S272A|PPP2R2B_uc011dbu.1_Missense_Mutation_p.S289A|PPP2R2B_uc011dbv.1_Missense_Mutation_p.S341A NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 283 WD 5. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCGAAATCGAAGAGATAATT 0.423 NA 5 147 0 0 0.000602 0 0 ODZ2 57451 broad.mit.edu 37 5 167525048 167525048 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:167525048C>A uc010jjd.2 + 9 1729 c.1729C>A c.(1729-1731)CCA>ACA p.P577T ODZ2_uc003lzq.2_Missense_Mutation_p.P456T|ODZ2_uc003lzr.3_Missense_Mutation_p.P345T|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) GCAGGACTGTCCACGTAACTG 0.453 NA 28 62 1.26612e-14 1.66757e-14 0.003271 1 0 ZNF354C 30832 broad.mit.edu 37 5 178506336 178506336 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:178506336A>T uc003mju.2 + 5 1018 c.903A>T c.(901-903)CGA>CGT p.R301R NM_014594 NP_055409 Q86Y25 Z354C_HUMAN zinc finger protein 354C 301 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309) all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.247) AACCGTATCGATGTAGGGAAT 0.418 NA 27 245 0 0 0.008361 0 0 DUSP22 56940 broad.mit.edu 37 6 348110 348110 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:348110G>T uc003msx.2 + 6 710 c.271G>T c.(271-273)GGG>TGG p.G91W DUSP22_uc011dhn.1_Missense_Mutation_p.G91W|DUSP22_uc003msy.1_Missense_Mutation_p.G48W NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN dual specificity phosphatase 22 91 Tyrosine-protein phosphatase. apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1)|kidney(1)|central_nervous_system(1) 3 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) CAGCCTGGCCGGGGTCTCCAG 0.602 NA 17 174 1.77063e-15 2.36962e-15 0.005443 1 0 F13A1 2162 broad.mit.edu 37 6 6318869 6318869 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:6318869C>T uc003mwv.2 - 2 152 c.29G>A c.(28-30)GGA>GAA p.G10E F13A1_uc011dib.1_Missense_Mutation_p.G10E NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 10 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) TCTTCTGCCTCCAAAGGCGGT 0.478 NA 87 315 0 0 0.00361 0 0 PIP5K1P1 206426 broad.mit.edu 37 6 7987116 7987116 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:7987116C>A uc003mxx.3 + 1 782 c.347C>A c.(346-348)ACC>AAC p.T116N TXNDC5_uc003mxw.2_Intron NR_027712 RecName: Full=Phosphatidylinositol-4-phosphate 5-kinase type-1 alpha; Short=PtdIns(4)P-5-kinase alpha; Short=PIP5KIalpha; EC=2.7.1.68; AltName: Full=Phosphatidylinositol-4-phosphate 5-kinase type I alpha; AltName: Full=68 kDa type I phosphatidylinositol-4-phosphate 5-kinase alpha; 0 AGCAACCTGACCCCTGCTCAT 0.527 NA 38 112 9.62906e-15 1.26977e-14 0.00623 1 0 SYCP2L 221711 broad.mit.edu 37 6 10930655 10930655 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:10930655C>A uc003mzo.2 + 19 1837 c.1541C>A c.(1540-1542)ACC>AAC p.T514N SYCP2L_uc011din.1_3'UTR|SYCP2L_uc010jow.2_Missense_Mutation_p.T134N NM_001040274 NP_001035364 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 514 nucleus ovary(1)|skin(1) 2 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) GATTCAAGTACCAGTGAACTA 0.358 NA 10 119 1.76689e-08 2.0878e-08 0.006214 1 0 ATXN1 6310 broad.mit.edu 37 6 16328052 16328052 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:16328052C>A uc003nbt.2 - 8 1461 c.490G>T c.(490-492)GGG>TGG p.G164W ATXN1_uc010jpi.2_Missense_Mutation_p.G164W|ATXN1_uc010jpj.1_Intron NM_000332 NP_000323 P54253 ATX1_HUMAN ataxin 1 164 cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association skin(3)|central_nervous_system(1) 4 Breast(50;0.063)|Ovarian(93;0.0733) all_hematologic(90;0.000682)|Ovarian(999;0.00973) GTGGTGGCCCCTGCGGCCGAG 0.627 NA 20 21 9.39395e-14 1.22678e-13 0.00632 1 0 NRSN1 140767 broad.mit.edu 37 6 24134721 24134721 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:24134721A>T uc010jpq.1 + 3 403 c.166A>T c.(166-168)AGG>TGG p.R56W NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 56 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 ATCACCTAACAGGTGGAGCTC 0.453 NA 22 101 0 0 0.008361 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596192 24596192 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:24596192G>C uc011djo.1 - 3 947 c.710C>G c.(709-711)CCC>CGC p.P237R KIAA0319_uc011djp.1_Missense_Mutation_p.P192R|KIAA0319_uc003neh.1_Missense_Mutation_p.P237R|KIAA0319_uc011djq.1_Missense_Mutation_p.P228R|KIAA0319_uc011djr.1_Missense_Mutation_p.P237R NM_014809 NP_055624 Q5VV43 K0319_HUMAN KIAA0319 precursor 237 Extracellular (Potential). negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding ovary(1)|skin(1) 2 AGTCGGCAAGGGAAGCAACAC 0.547 NA 5 132 0 0 0.001168 0 0 FAM65B 9750 broad.mit.edu 37 6 24843104 24843104 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:24843104C>G uc003neo.1 - 14 2082 c.1906G>C c.(1906-1908)GAT>CAT p.D636H FAM65B_uc011djs.1_Missense_Mutation_p.D615H|FAM65B_uc011dju.1_Missense_Mutation_p.D620H|FAM65B_uc003nep.2_Missense_Mutation_p.D586H|FAM65B_uc011djt.1_Missense_Mutation_p.D586H NM_014722 NP_055537 Q9Y4F9 FA65B_HUMAN hypothetical protein LOC9750 isoform 1 636 cell differentiation|muscle organ development cytoskeleton|filopodium|mitochondrion binding ovary(1) 1 AGAATATCATCCAAATTCATG 0.343 NA 11 42 0 0 0.000978 0 0 SLC17A4 10050 broad.mit.edu 37 6 25769244 25769244 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:25769244C>A uc003nfe.2 + 3 242 c.123C>A c.(121-123)CTC>CTA p.L41L SLC17A4_uc011djx.1_Silent_p.L41L|SLC17A4_uc003nff.1_5'UTR|SLC17A4_uc003nfg.2_5'UTR NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 41 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 GGCTGGCCCTCATCTTGCAGC 0.468 NA 35 123 3.61848e-18 5.10177e-18 0.007835 1 0 ZNF322A 79692 broad.mit.edu 37 6 26637670 26637670 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:26637670G>T uc003nil.3 - 4 1741 c.1112C>A c.(1111-1113)ACA>AAA p.T371K ZNF322A_uc003nij.2_5'Flank NM_024639 NP_078915 Q6U7Q0 Z322A_HUMAN zinc finger protein 322A 371 C2H2-type 11; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding 0 AATGTGTACTGTCTGATGTTG 0.438 NA 44 734 1.19451e-25 1.82472e-25 0.00361 1 0 OR2J2 26707 broad.mit.edu 37 6 29141790 29141790 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:29141790T>C uc011dlm.1 + 1 480 c.378T>C c.(376-378)GCT>GCC p.A126A NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GTTATGTAGCTGTGTGTAGAC 0.453 NA 109 751 0 0 0.00361 0 0 BAT3 7917 broad.mit.edu 37 6 31614237 31614237 + Silent SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:31614237G>C uc003nvg.3 - 8 1184 c.870C>G c.(868-870)CTC>CTG p.L290L BAT3_uc003nvf.3_Silent_p.L284L|BAT3_uc003nvh.3_Silent_p.L284L|BAT3_uc003nvi.3_Silent_p.L284L|BAT3_uc011dnw.1_Silent_p.L284L|BAT3_uc011dnx.1_Silent_p.L284L|BAT3_uc003nvj.1_Silent_p.L284L NM_004639 NP_004630 P46379 BAG6_HUMAN HLA-B associated transcript-3 isoform a 290 4 X 29 AA approximate repeats. apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding 0 AGAAGGGCTGGAGGCGACTCT 0.582 NA 7 100 0 0 0.004482 0 0 NOTCH4 4855 broad.mit.edu 37 6 32168740 32168740 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:32168740C>A uc003obb.2 - 23 4322 c.4183G>T c.(4183-4185)GAC>TAC p.D1395Y NOTCH4_uc003oba.2_Missense_Mutation_p.D58Y|NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 1395 Extracellular (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 GCCGGGTGGTCAGGGCCACAG 0.637 NA 23 35 6.00712e-18 8.42557e-18 0.002445 1 0 HLA-DPA1 3113 broad.mit.edu 37 6 33036447 33036447 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:33036447G>A uc003ocs.1 - 4 794 c.763C>T c.(763-765)CGG>TGG p.R255W HLA-DPA1_uc010juk.2_Missense_Mutation_p.R255W NM_033554 NP_291032 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP 255 Cytoplasmic (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity skin(1) 1 CCCTGGGCCCGGGGGTCATGG 0.542 NA 6 56 0 0 0.00308 0 0 CUL7 9820 broad.mit.edu 37 6 43020259 43020259 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:43020259C>A uc003otq.2 - 2 571 c.268G>T c.(268-270)GGG>TGG p.G90W CUL7_uc011dvb.1_Missense_Mutation_p.G142W|CUL7_uc010jyh.2_Intron|KLC4_uc003otr.1_Intron NM_014780 NP_055595 Q14999 CUL7_HUMAN cullin 7 90 interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis anaphase-promoting complex|mitochondrion ubiquitin protein ligase binding ovary(3)|kidney(1) 4 all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) TGGGAGGGCCCGATGACCTGG 0.587 NA 3 87 0.004672 0.00487985 0.004672 1 0 TTBK1 84630 broad.mit.edu 37 6 43225570 43225570 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:43225570G>A uc003ouq.1 + 10 1161 c.882G>A c.(880-882)GAG>GAA p.E294E NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 294 Protein kinase. cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CAGTGTTTGAGAACAGCATGA 0.602 NA 4 118 0 0 0.001984 0 0 TDRD6 221400 broad.mit.edu 37 6 46657599 46657599 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:46657599G>T uc003oyj.2 + 1 1734 c.1734G>T c.(1732-1734)GTG>GTT p.V578V TDRD6_uc010jze.2_Silent_p.V572V NM_001010870 NP_001010870 O60522 TDRD6_HUMAN tudor domain containing 6 578 Tudor 3. cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding breast(3)|ovary(2)|skin(1) 6 Lung(136;0.192) CGGAAAATGTGGACTGGTATG 0.433 NA 69 194 5.88917e-42 9.96913e-42 0.00361 1 0 MEP1A 4224 broad.mit.edu 37 6 46806811 46806811 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:46806811G>T uc010jzh.1 + 14 2221 c.2179G>T c.(2179-2181)GCT>TCT p.A727S MEP1A_uc011dwg.1_Missense_Mutation_p.A449S|MEP1A_uc011dwh.1_Missense_Mutation_p.A755S|MEP1A_uc011dwi.1_Missense_Mutation_p.A627S NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 727 Helical; (Potential). digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) CGGAGGCACGGCTGGCGTGAT 0.602 NA 48 178 1.11015e-26 1.70549e-26 0.00361 1 0 C6orf138 442213 broad.mit.edu 37 6 47846506 47846506 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:47846506C>G uc011dwm.1 - 3 2108 c.2023G>C c.(2023-2025)GTC>CTC p.V675L C6orf138_uc011dwn.1_Missense_Mutation_p.V439L NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 692 Helical; (Potential). integral to membrane hedgehog receptor activity central_nervous_system(1) 1 ATTGAGGTGACGCTAAGAATT 0.453 NA 26 95 0 0 0.005443 0 0 DEFB112 245915 broad.mit.edu 37 6 50011302 50011302 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:50011302C>T uc011dws.1 - 2 328 c.328G>A c.(328-330)GAC>AAC p.D110N NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 110 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) TGACGTGAGTCTTTAGGGTAC 0.408 NA 15 64 0 0 0.007413 0 0 IL17F 112744 broad.mit.edu 37 6 52109223 52109223 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:52109223G>T uc003pam.1 - 1 76 c.5C>A c.(4-6)ACA>AAA p.T2K NM_052872 NP_443104 Q96PD4 IL17F_HUMAN interleukin 17F precursor 2 cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|cytokine binding|protein homodimerization activity ovary(1) 1 Lung NSC(77;0.116) GGTCTTCACTGTCATGTTGCG 0.448 NA 9 277 0.00136819 0.00144868 0.001368 1 0 RIMS1 22999 broad.mit.edu 37 6 72806785 72806785 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:72806785G>T uc003pga.2 + 3 456 c.379G>T c.(379-381)GGG>TGG p.G127W NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 127 RabBD.|FYVE-type. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GTTTGCTGATGGGTGCGGTCA 0.507 NA 35 93 1.60099e-16 2.19146e-16 0.004878 1 0 CD109 135228 broad.mit.edu 37 6 74440084 74440084 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:74440084A>T uc003php.2 + 4 719 c.294A>T c.(292-294)GCA>GCT p.A98A CD109_uc010kaz.2_Silent_p.A98A|CD109_uc003phq.2_Silent_p.A98A|CD109_uc010kba.2_Intron NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 98 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TGAACAGTGCAGATGAGATTT 0.373 NA 32 113 0 0 0.009718 0 0 ZNF292 23036 broad.mit.edu 37 6 87966098 87966098 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:87966098G>T uc003plm.3 + 8 2792 c.2751G>T c.(2749-2751)TTG>TTT p.L917F NM_015021 NP_055836 O60281 ZN292_HUMAN zinc finger protein 292 917 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4) 4 all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05) BRCA - Breast invasive adenocarcinoma(108;0.0199) ATGGACCATTGTCAAATGGTT 0.443 NA 60 167 2.36135e-34 3.81776e-34 0.00361 1 0 GABRR1 2569 broad.mit.edu 37 6 89895078 89895078 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:89895078G>A uc003pna.2 - 7 1202 c.747C>T c.(745-747)CTC>CTT p.L249L GABRR1_uc011dzv.1_Silent_p.L226L NM_002042 NP_002033 P24046 GBRR1_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 1 249 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity pancreas(1) 1 all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00917) Picrotoxin(DB00466) ATTCCTGAATGAGGAACTGGG 0.488 NA 13 414 0 0 0.001855 0 0 EPHA7 2045 broad.mit.edu 37 6 93964397 93964397 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:93964397C>T uc003poe.2 - 14 2741 c.2500G>A c.(2500-2502)GAA>AAA p.E834K EPHA7_uc003pof.2_Missense_Mutation_p.E829K|EPHA7_uc011eac.1_Missense_Mutation_p.E830K NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 834 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) TAAGGTCTTTCTCCATAAGAC 0.398 NA 21 102 0 0 0.003954 0 0 FHL5 9457 broad.mit.edu 37 6 97063550 97063550 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:97063550G>T uc003pos.1 + 7 1162 c.757G>T c.(757-759)GGG>TGG p.G253W FHL5_uc003pot.1_Missense_Mutation_p.G253W NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 253 LIM zinc-binding 4. nucleus zinc ion binding ovary(2) 2 all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204) BRCA - Breast invasive adenocarcinoma(108;0.0948) CTTTAACTGCGGGAAATGCTC 0.443 NA 39 96 7.70917e-36 1.25579e-35 0.00361 1 0 GPR63 81491 broad.mit.edu 37 6 97246908 97246908 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:97246908T>G uc010kcl.2 - 3 1178 c.700A>C c.(700-702)ACA>CCA p.T234P GPR63_uc003pou.2_Missense_Mutation_p.T234P NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 234 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GGATTGGTTGTGTACCCAAAC 0.448 NA 56 186 0 0 0.00361 0 0 GPR63 81491 broad.mit.edu 37 6 97247592 97247592 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:97247592C>A uc010kcl.2 - 3 494 c.16G>T c.(16-18)GTG>TTG p.V6L GPR63_uc003pou.2_Missense_Mutation_p.V6L NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 6 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) GCAGTCAACACTGCCGAGAAG 0.463 NA 112 366 1.46217e-58 2.6319e-58 0.00361 1 0 HDAC2 3066 broad.mit.edu 37 6 114270215 114270215 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:114270215C>T uc003pwd.1 - 8 1051 c.1051G>A c.(1051-1053)GCT>ACT p.A351T HDAC2_uc003pwc.1_Missense_Mutation_p.A227T|HDAC2_uc003pwe.1_Missense_Mutation_p.A227T NM_001527 NP_001518 Q92769 HDAC2_HUMAN histone deacetylase 2 257 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding skin(2)|ovary(1)|central_nervous_system(1) 4 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) AATACCACAGCACTAGGTTGA 0.378 NA 88 216 0 0 0.00361 0 0 LAMA2 3908 broad.mit.edu 37 6 129511367 129511367 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:129511367A>T uc003qbn.2 + 11 1590 c.1485A>T c.(1483-1485)GGA>GGT p.G495G LAMA2_uc003qbo.2_Silent_p.G495G NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 495 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTGAAGGAGGAGACTGTAGTC 0.403 NA 38 125 0 0 0.00361 0 0 ENPP3 5169 broad.mit.edu 37 6 131962666 131962666 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:131962666G>C uc003qcu.3 + 3 497 c.150G>C c.(148-150)AAG>AAC p.K50N ENPP3_uc010kfn.1_RNA|ENPP3_uc011ecc.1_Missense_Mutation_p.K16N|ENPP3_uc010kfo.1_RNA|ENPP3_uc010kfp.1_Intron|ENPP3_uc010kfq.2_RNA|ENPP3_uc003qcv.2_Missense_Mutation_p.K50N NM_005021 NP_005012 O14638 ENPP3_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 50 Extracellular (Potential).|SMB 1. immune response|nucleoside triphosphate catabolic process|phosphate metabolic process extracellular region|integral to plasma membrane|perinuclear region of cytoplasm metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity ovary(3)|skin(1) 4 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511) AACTGGAAAAGCAAGGTATAC 0.423 NA 4 164 0 0 0.009096 0 0 MYB 4602 broad.mit.edu 37 6 135539023 135539023 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:135539023C>A uc003qfc.2 + 15 2027 c.1828C>A c.(1828-1830)CCT>ACT p.P610T MYB_uc003qfh.2_Missense_Mutation_p.P731T|MYB_uc003qfi.2_Missense_Mutation_p.P715T|MYB_uc010kgi.2_Missense_Mutation_p.P573T|MYB_uc003qfq.2_Missense_Mutation_p.P728T|MYB_uc010kgj.2_Missense_Mutation_p.P575T|MYB_uc003qfo.2_Missense_Mutation_p.P525T|MYB_uc003qfu.2_Missense_Mutation_p.P607T|MYB_uc003qfl.2_RNA|MYB_uc003qfv.2_RNA|MYB_uc003qfz.2_RNA|MYB_uc003qfx.2_RNA|MYB_uc003qga.2_RNA|MYB_uc003qgb.2_RNA|MYB_uc010kgk.2_RNA|MYB_uc003qfd.2_RNA|MYB_uc003qfe.2_RNA|MYB_uc003qfg.2_RNA|MYB_uc003qff.2_RNA|MYB_uc003qfj.2_RNA|MYB_uc003qfm.2_RNA|MYB_uc003qfp.2_RNA|MYB_uc003qfn.2_RNA|MYB_uc003qfk.2_RNA|MYB_uc003qfr.2_RNA|MYB_uc003qfs.2_Missense_Mutation_p.P236T|MYB_uc003qft.2_RNA|MYB_uc003qfw.2_Missense_Mutation_p.P422T|MYB_uc003qfy.2_RNA|MYB_uc003qgc.2_RNA NM_005375 NP_005366 P10242 MYB_HUMAN v-myb myeloblastosis viral oncogene homolog 610 blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding lung(1) 1 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) TACCTGGGAACCTGCATCCTG 0.517 NA T NFIB adenoid cystic carcinoma 102 266 2.11273e-47 3.66252e-47 0.00361 1 0 SHPRH 257218 broad.mit.edu 37 6 146262871 146262871 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:146262871C>G uc003qlf.2 - 10 2777 c.2378G>C c.(2377-2379)CGT>CCT p.R793P SHPRH_uc003qld.2_Missense_Mutation_p.R793P|SHPRH_uc003qle.2_Missense_Mutation_p.R793P|SHPRH_uc003qlg.1_Missense_Mutation_p.R349P|SHPRH_uc003qlj.1_Missense_Mutation_p.R682P NM_001042683 NP_001036148 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase isoform a 793 Helicase ATP-binding; second part. DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding ovary(1)|kidney(1)|central_nervous_system(1) 3 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCGTAGGCGACGCCCATCCTC 0.468 NA 25 69 0 0 0.005443 0 0 ESR1 2099 broad.mit.edu 37 6 152265375 152265375 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:152265375C>A uc003qom.3 + 6 1198 c.828C>A c.(826-828)GGC>GGA p.G276G ESR1_uc010kin.2_Silent_p.G276G|ESR1_uc010kio.2_Silent_p.G278G|ESR1_uc010kip.2_Silent_p.G275G|ESR1_uc003qon.3_Silent_p.G276G|ESR1_uc003qoo.3_Silent_p.G276G|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Silent_p.G57G|ESR1_uc010kit.1_Silent_p.G13G|ESR1_uc011eey.1_Silent_p.G13G NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 276 Interaction with AKAP13.|Hinge.|Mediates interaction with DNTTIP2. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) ATGGGGAGGGCAGGGGTGAAG 0.507 NA 46 154 4.96213e-28 7.71094e-28 0.00361 1 0 SYNE1 23345 broad.mit.edu 37 6 152763330 152763330 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:152763330G>T uc010kiw.2 - 31 4490 c.3888C>A c.(3886-3888)ATC>ATA p.I1296I SYNE1_uc003qot.3_Silent_p.I1303I|SYNE1_uc003qou.3_Silent_p.I1296I|SYNE1_uc010kjb.1_Silent_p.I1279I|SYNE1_uc003qow.2_Silent_p.I591I|SYNE1_uc003qox.1_Silent_p.I812I NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 1296 Potential.|Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCGCCTGCGCGATCTGCTGCT 0.557 NA HNSCC(10;0.0054) 37 76 1.01817e-39 1.70485e-39 0.009718 1 0 LPA 4018 broad.mit.edu 37 6 160977165 160977165 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:160977165T>A uc003qtl.2 - 31 4985 c.4865A>T c.(4864-4866)CAG>CTG p.Q1622L NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 4130 Kringle 37. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) TCGATAACTCTGGCCATTACC 0.483 NA 202 484 0 0 0.00361 0 0 WDR27 253769 broad.mit.edu 37 6 170088913 170088913 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:170088913C>A uc003qwx.2 - 2 709 c.189G>T c.(187-189)CAG>CAT p.Q63H WDR27_uc010kkw.1_Missense_Mutation_p.Q63H|WDR27_uc003qwy.2_Missense_Mutation_p.Q63H|WDR27_uc011egw.1_RNA|WDR27_uc010kkx.2_Missense_Mutation_p.Q63H A2RRH5 WDR27_HUMAN RecName: Full=WD repeat-containing protein 27; 63 WD 1. pancreas(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CGTTCAATACCTGATGAGAAG 0.468 NA 151 362 1.3188e-82 2.49878e-82 0.00361 1 0 C7orf27 221927 broad.mit.edu 37 7 2582880 2582880 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:2582880T>C uc003smi.2 - 6 923 c.881A>G c.(880-882)CAC>CGC p.H294R C7orf27_uc003smh.3_5'Flank|C7orf27_uc003smj.1_3'UTR NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 294 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) GGGTCCCATGTGGGTGGGACC 0.642 NA 2 7 0 0 0.004672 0 0 CARD11 84433 broad.mit.edu 37 7 2985553 2985553 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:2985553C>A uc003smv.2 - 4 662 c.258G>T c.(256-258)AGG>AGT p.R86S NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 86 CARD. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCACATAGCCCCTTTGCCCCT 0.493 NA Mis DLBCL 78 479 1.31215e-26 2.01296e-26 0.00361 1 0 SDK1 221935 broad.mit.edu 37 7 4153708 4153708 + Missense_Mutation SNP G G T rs142268038 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:4153708G>T uc003smx.2 + 25 3764 c.3625G>T c.(3625-3627)GTG>TTG p.V1209L SDK1_uc010kso.2_Missense_Mutation_p.V485L NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1209 Fibronectin type-III 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CCCCGAGTCCGTGGGCTACAG 0.587 NA 7 30 2.0095e-06 2.28208e-06 0.001984 1 0 PHF14 9678 broad.mit.edu 37 7 11068427 11068427 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:11068427A>T uc003sry.1 + 7 1872 c.1437A>T c.(1435-1437)TCA>TCT p.S479S PHF14_uc011jxi.1_Silent_p.S194S|PHF14_uc003srz.2_Silent_p.S479S|PHF14_uc011jxj.1_Silent_p.S194S NM_014660 NP_055475 O94880 PHF14_HUMAN PHD finger protein 14 isoform 2 479 zinc ion binding kidney(2)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.205) GTCTGCTTTCAGAGGCAGCGG 0.433 NA 15 136 0 0 0.00333 0 0 THSD7A 221981 broad.mit.edu 37 7 11582602 11582602 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:11582602C>A uc003ssf.3 - 5 1848 c.1596G>T c.(1594-1596)CAG>CAT p.Q532H NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 532 TSP type-1 5.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTTTCCCTTGCTGATCATTAC 0.388 NA HNSCC(18;0.044) 31 115 1.22384e-17 1.70547e-17 0.002836 1 0 DGKB 1607 broad.mit.edu 37 7 14216490 14216490 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:14216490C>A uc003ssz.2 - 24 2468 c.2281G>T c.(2281-2283)GAG>TAG p.E761* DGKB_uc011jxt.1_Nonsense_Mutation_p.E742*|DGKB_uc003sta.2_Nonsense_Mutation_p.E761*|DGKB_uc011jxu.1_Nonsense_Mutation_p.E760* NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN diacylglycerol kinase, beta isoform 1 761 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding lung(5)|ovary(4)|breast(2)|skin(1) 12 Phosphatidylserine(DB00144) ATCCATGGCTCCCCATCAATT 0.393 NA 214 456 1.62378e-119 3.13157e-119 0.00361 1 0 PRPS1L1 221823 broad.mit.edu 37 7 18067033 18067033 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:18067033T>A uc003stz.2 - 1 454 c.373A>T c.(373-375)ATC>TTC p.I125F NM_175886 NP_787082 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 125 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity ovary(1) 1 Lung NSC(10;0.0385)|all_lung(11;0.0736) TCCATGGTGATGATATGATCC 0.463 NA 144 368 0 0 0.00361 0 0 DNAH11 8701 broad.mit.edu 37 7 21631013 21631013 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:21631013C>T uc003svc.2 + 14 2516 c.2485C>T c.(2485-2487)CGC>TGC p.R829C NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 829 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CAGAGTTGAGCGCACACAGAA 0.607 NA Kartagener_syndrome 28 161 0 0 0.002096 0 0 STK31 56164 broad.mit.edu 37 7 23826529 23826529 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:23826529C>A uc003sws.3 + 20 2540 c.2473C>A c.(2473-2475)CCT>ACT p.P825T STK31_uc003swt.3_Missense_Mutation_p.P802T|STK31_uc011jze.1_Missense_Mutation_p.P825T|STK31_uc010kuq.2_Missense_Mutation_p.P802T|STK31_uc003swv.1_5'Flank NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 825 Protein kinase. ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 AGCCAACATGCCTTTAAATTC 0.323 NA 63 521 4.59617e-45 7.91684e-45 0.00361 1 0 HOXA2 3199 broad.mit.edu 37 7 27140626 27140626 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:27140626G>T uc003syh.2 - 2 1125 c.850C>A c.(850-852)CTG>ATG p.L284M NM_006735 NP_006726 O43364 HXA2_HUMAN homeobox A2 284 nucleus sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 AAATGTTTCAGATTTTTCTCA 0.498 NA 20 77 2.39556e-15 3.19803e-15 0.00278 1 0 HOXA7 3204 broad.mit.edu 37 7 27196029 27196029 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:27196029C>G uc003sys.2 - 1 268 c.136G>C c.(136-138)GCC>CCC p.A46P NM_006896 NP_008827 P31268 HXA7_HUMAN homeobox A7 46 angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter sequence-specific DNA binding|transcription factor binding 0 GAGGCGAAGGCGCCGGCGCCC 0.622 NA 6 12 0 0 0.001984 0 0 SCRN1 9805 broad.mit.edu 37 7 29980415 29980415 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:29980415C>G uc010kvp.2 - 4 826 c.622G>C c.(622-624)GCT>CCT p.A208P SCRN1_uc011jzy.1_Missense_Mutation_p.A140P|SCRN1_uc003tak.2_Missense_Mutation_p.A208P|SCRN1_uc011jzz.1_Missense_Mutation_p.A208P|SCRN1_uc011kaa.1_Missense_Mutation_p.A228P|SCRN1_uc011jzw.1_Intron|SCRN1_uc011jzx.1_Missense_Mutation_p.A31P NM_001145515 NP_001138987 Q12765 SCRN1_HUMAN secernin 1 isoform c 208 exocytosis|proteolysis cytoplasm|nuclear membrane dipeptidase activity ovary(2) 2 TGGCTCTGAGCGTAACTCCTG 0.527 NA 31 154 0 0 0.009718 0 0 BBS9 27241 broad.mit.edu 37 7 33545221 33545221 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:33545221G>A uc003tdn.1 + 20 2775 c.2262G>A c.(2260-2262)GCG>GCA p.A754A BBS9_uc003tdo.1_Silent_p.A719A|BBS9_uc003tdp.1_Silent_p.A749A|BBS9_uc003tdq.1_Silent_p.A714A|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.A278A|BBS9_uc003tds.1_Silent_p.A177A|BBS9_uc003tdt.2_RNA NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 754 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) TTCTGGAAGCGGCATTTCTGC 0.498 NA Bardet-Biedl_syndrome 15 141 0 0 0.006122 0 0 KIAA0895 23366 broad.mit.edu 37 7 36396906 36396906 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:36396906C>A uc003tfd.2 - 3 523 c.472G>T c.(472-474)GTG>TTG p.V158L KIAA0895_uc003tfc.2_Missense_Mutation_p.V145L|KIAA0895_uc011kaw.1_Missense_Mutation_p.V7L|KIAA0895_uc003tfb.2_Missense_Mutation_p.V107L|KIAA0895_uc011kax.1_Missense_Mutation_p.V107L|KIAA0895_uc003tfe.2_Missense_Mutation_p.V145L|KIAA0895_uc011kay.1_Missense_Mutation_p.V107L NM_001100425 NP_001093895 Q8NCT3 K0895_HUMAN hypothetical protein LOC23366 isoform 1 158 0 CTGCTTGTCACAGGCACCAGG 0.473 NA 19 60 4.26978e-12 5.41239e-12 0.00333 1 0 GPR141 353345 broad.mit.edu 37 7 37780650 37780650 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:37780650C>A uc003tfm.1 + 1 655 c.655C>A c.(655-657)CAG>AAG p.Q219K uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 219 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 ACTATCCCACCAGGAGTTCTG 0.418 NA 122 533 9.13576e-48 1.58883e-47 0.00361 1 0 HECW1 23072 broad.mit.edu 37 7 43283518 43283518 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:43283518T>A uc003tid.1 + 3 619 c.14T>A c.(13-15)CTG>CAG p.L5Q HECW1_uc011kbi.1_Missense_Mutation_p.L5Q|HECW1_uc003tie.1_Intron NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 5 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CTGCTGCACCTGTGTAGTGTG 0.448 NA 175 373 0 0 0.00361 0 0 MYO1G 64005 broad.mit.edu 37 7 45011815 45011815 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:45011815C>G uc003tmh.2 - 6 772 c.628G>C c.(628-630)GGC>CGC p.G210R MYO1G_uc003tmg.2_5'UTR|MYO1G_uc010kym.2_Missense_Mutation_p.G95R|MYO1G_uc003tmi.1_Missense_Mutation_p.G122R|MYO1G_uc003tmj.2_5'UTR NM_033054 NP_149043 B0I1T2 MYO1G_HUMAN myosin IG 210 Myosin head-like. myosin complex|plasma membrane actin binding|ATP binding|calmodulin binding|motor activity breast(2)|ovary(1)|pancreas(1) 4 TCCTCACTGCCTCTCAGCAAC 0.507 NA 8 21 0 0 0.006214 0 0 ABCA13 154664 broad.mit.edu 37 7 48452087 48452087 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:48452087G>T uc003toq.2 + 41 12391 c.12366G>T c.(12364-12366)AAG>AAT p.K4122N ABCA13_uc010kys.1_Missense_Mutation_p.K1196N|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4122 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 ACACAGACAAGGCCTGCTTGA 0.493 NA 63 324 1.07941e-43 1.84457e-43 0.00361 1 0 CDC14C 168448 broad.mit.edu 37 7 48964294 48964294 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:48964294C>A uc010kyv.1 + 1 138 c.26C>A c.(25-27)CCG>CAG p.P9Q NR_003595 SubName: Full=Putative uncharacterized protein MGC26484; 0 CTGCAGGACCCGCGCCGCCGG 0.632 NA 14 10 1.49906e-05 1.6725e-05 0.00245 1 0 DDC 1644 broad.mit.edu 37 7 50596906 50596906 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:50596906C>A uc003tpf.3 - 5 656 c.570G>T c.(568-570)CAG>CAT p.Q190H DDC_uc010kza.2_Intron|DDC_uc003tpg.3_Missense_Mutation_p.Q190H NM_000790 NP_000781 P20711 DDC_HUMAN dopa decarboxylase (aromatic L-amino acid 190 cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion cytosol aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding ovary(2) 2 Glioma(55;0.08)|all_neural(89;0.245) Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409) ACACACTCACCTGATCGGATG 0.512 NA 80 177 4.00701e-44 6.86916e-44 0.00361 1 0 COBL 23242 broad.mit.edu 37 7 51096651 51096651 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:51096651C>A uc003tpr.3 - 10 2327 c.2142G>T c.(2140-2142)AAG>AAT p.K714N COBL_uc003tps.2_Missense_Mutation_p.K771N|COBL_uc011kcl.1_Missense_Mutation_p.K714N|COBL_uc003tpp.3_Missense_Mutation_p.K500N|COBL_uc003tpq.3_Missense_Mutation_p.K655N|COBL_uc003tpo.3_Missense_Mutation_p.K256N NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 714 skin(3)|ovary(2) 5 Glioma(55;0.08) GCATCTCTGACTTTGGAGGAA 0.522 NSCLC(189;2119 2138 12223 30818 34679) NA 42 70 1.51926e-22 2.23847e-22 0.00361 1 0 COBL 23242 broad.mit.edu 37 7 51111277 51111277 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:51111277C>A uc003tpr.3 - 8 1394 c.1209G>T c.(1207-1209)ACG>ACT p.T403T COBL_uc003tps.2_Silent_p.T460T|COBL_uc011kcl.1_Silent_p.T403T|COBL_uc010kzc.2_Silent_p.T403T|COBL_uc003tpp.3_Silent_p.T189T|COBL_uc003tpq.3_Silent_p.T344T NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 403 skin(3)|ovary(2) 5 Glioma(55;0.08) AGTCCTCGGTCGTGTCCTCCG 0.607 NSCLC(189;2119 2138 12223 30818 34679) NA 51 95 2.41709e-19 3.43481e-19 0.00361 1 0 VSTM2A 222008 broad.mit.edu 37 7 54617601 54617601 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:54617601A>T uc010kzf.2 + 4 777 c.372A>T c.(370-372)TTA>TTT p.L124F VSTM2A_uc010kze.2_Missense_Mutation_p.L124F|VSTM2A_uc003tqc.3_Missense_Mutation_p.L124F NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 124 Ig-like V-type. extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) ATGAAGGCTTATATGAGTGCA 0.468 NA 8 24 0 0 0.008291 0 0 SEPT14 346288 broad.mit.edu 37 7 55929665 55929665 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:55929665G>T uc003tqz.2 - 2 142 c.25C>A c.(25-27)CCC>ACC p.P9T NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN septin 14 9 cell cycle|cell division septin complex GTP binding|protein binding 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATTTGTGTGGGCATAGCCATT 0.279 NA 3 29 0.00024832 0.000270348 0.009096 1 0 ZNF713 349075 broad.mit.edu 37 7 55991322 55991322 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:55991322G>T uc003trc.1 + 3 236 c.198G>T c.(196-198)GAG>GAT p.E66D ZNF713_uc003tra.1_Missense_Mutation_p.E79D|MRPS17_uc003trb.2_Missense_Mutation_p.E66D NM_182633 NP_872439 Q8N859 ZN713_HUMAN zinc finger protein 713 66 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) gtaagccaGAGGTAATCGCGC 0.259 NA 13 73 1.3612e-06 1.55074e-06 0.003163 1 0 ZNF680 340252 broad.mit.edu 37 7 63982636 63982636 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:63982636A>G uc003tta.2 - 4 669 c.496T>C c.(496-498)TTT>CTT p.F166L ZNF680_uc010kzr.2_Missense_Mutation_p.F93L NM_178558 NP_848653 Q8NEM1 ZN680_HUMAN zinc finger protein 680 isoform 1 166 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.118)|all_lung(88;0.243) GAATTTGAAAATTTATGAAAG 0.299 NA 5 71 0 0 0.000602 0 0 RABGEF1 27342 broad.mit.edu 37 7 66264318 66264318 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:66264318G>T uc011kee.1 + 7 943 c.779G>T c.(778-780)CGC>CTC p.R260L RABGEF1_uc003tvf.2_Missense_Mutation_p.R119L|RABGEF1_uc003tvg.2_Missense_Mutation_p.R54L|RABGEF1_uc010lag.2_Missense_Mutation_p.R246L|RABGEF1_uc003tvh.2_Missense_Mutation_p.R246L|RABGEF1_uc003tvi.2_Missense_Mutation_p.R80L NM_014504 NP_055319 Q9UJ41 RABX5_HUMAN RAB guanine nucleotide exchange factor (GEF) 1 463 VPS9. endocytosis|protein transport early endosome|recycling endosome DNA binding|protein binding|zinc ion binding ovary(1) 1 AGAGCCCTGCGCTGGGTTACG 0.493 NA 42 108 6.31075e-24 9.4399e-24 0.00361 1 0 SEMA3A 10371 broad.mit.edu 37 7 83640407 83640407 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:83640407T>C uc003uhz.2 - 9 1241 c.926A>G c.(925-927)CAG>CGG p.Q309R NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 309 Sema. axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 GAATACATCCTCTGTTTAAAA 0.313 NA 24 46 0 0 0.003954 0 0 GRM3 2913 broad.mit.edu 37 7 86415735 86415735 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:86415735C>T uc003uid.2 + 3 1726 c.627C>T c.(625-627)AAC>AAT p.N209N GRM3_uc010lef.2_Silent_p.N207N|GRM3_uc010leg.2_Silent_p.N81N|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 209 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) GCTTCTTCAACTGGACCTACG 0.572 GBM(52;969 1098 3139 52280) NA 29 154 0 0 0.002096 0 0 CROT 54677 broad.mit.edu 37 7 87011391 87011391 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:87011391G>T uc003uit.2 + 12 1309 c.1064G>T c.(1063-1065)GGT>GTT p.G355V CROT_uc003uiu.2_Missense_Mutation_p.G383V NM_021151 NP_066974 Q9UKG9 OCTC_HUMAN peroxisomal carnitine O-octanoyltransferase 355 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity ovary(2)|lung(1) 3 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) TATTTTCAGGGTTCAGAGAAG 0.333 NA 88 170 3.59239e-61 6.55368e-61 0.00361 1 0 STEAP4 79689 broad.mit.edu 37 7 87913403 87913403 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:87913403C>T uc003ujs.2 - 2 287 c.182G>A c.(181-183)GGT>GAT p.G61D STEAP4_uc010lek.2_Missense_Mutation_p.G61D|STEAP4_uc003ujt.2_Missense_Mutation_p.G61D NM_024636 NP_078912 Q687X5 STEA4_HUMAN tumor necrosis factor, alpha-induced protein 9 61 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity 0 Esophageal squamous(14;0.00802) GACTTCTGCACCACTGGGCAG 0.438 NA 20 128 0 0 0.00278 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963931 88963931 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:88963931G>T uc011khi.1 + 4 2173 c.1635G>T c.(1633-1635)TGG>TGT p.W545C NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 545 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) ATCCGGATTGGGAAAAATTCC 0.353 NA HNSCC(36;0.09) 40 105 3.50607e-19 4.97576e-19 0.00361 1 0 SLC25A13 10165 broad.mit.edu 37 7 95750587 95750587 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:95750587T>A uc003uof.3 - 18 2135 c.1944A>T c.(1942-1944)GCA>GCT p.A648A SLC25A13_uc003uog.3_Silent_p.A649A|SLC25A13_uc011kik.1_Silent_p.A540A NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 648 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity central_nervous_system(3)|skin(1) 4 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) TTTCAATCCCTGCAAATGTAG 0.498 NA 13 386 0 0 0.00245 0 0 OCM2 4951 broad.mit.edu 37 7 97617832 97617832 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:97617832G>A uc003upc.2 - 2 90 c.90C>T c.(88-90)TTC>TTT p.F30F NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 30 calcium ion binding 0 ACGTCTGGAAGAATTTTTGGG 0.468 NA 7 452 0 0 0.001984 0 0 SMURF1 57154 broad.mit.edu 37 7 98633309 98633309 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:98633309A>C uc003upu.1 - 17 2238 c.1918T>G c.(1918-1920)TTG>GTG p.L640V SMURF1_uc003upv.1_Missense_Mutation_p.L614V|SMURF1_uc003upt.2_Missense_Mutation_p.L614V|TRRAP_uc003ups.2_RNA NM_020429 NP_065162 Q9HCE7 SMUF1_HUMAN Smad ubiquitination regulatory factor 1 isoform 640 HECT. BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process cytosol|plasma membrane activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity skin(2)|ovary(1)|lung(1) 4 all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224) CAGTCGTTCAAGTCTATTTTA 0.522 NA 5 40 0 0 0.001984 0 0 ZAN 7455 broad.mit.edu 37 7 100382441 100382441 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:100382441T>C uc003uwj.2 + 37 6984 c.6819T>C c.(6817-6819)CAT>CAC p.H2273H ZAN_uc003uwk.2_Silent_p.H2273H|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kke.1_Silent_p.H323H NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 2273 VWFC 4.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGGATGCCCATGGTGGCTCCA 0.582 NA 5 52 0 0 0.001984 0 0 MUC17 140453 broad.mit.edu 37 7 100678604 100678604 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:100678604G>T uc003uxp.1 + 3 3960 c.3907G>T c.(3907-3909)GTT>TTT p.V1303F MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1303 Extracellular (Potential).|Ser-rich.|19.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AACAACTCCTGTTGACACTAA 0.458 NA 130 357 1.18812e-89 2.25911e-89 0.00361 1 0 MUC17 140453 broad.mit.edu 37 7 100680895 100680895 + Silent SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:100680895A>C uc003uxp.1 + 3 6251 c.6198A>C c.(6196-6198)ACA>ACC p.T2066T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2066 Extracellular (Potential).|32.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCCTTTCAACAACTCCTGTTG 0.488 NA 53 263 0 0 0.00361 0 0 SLC26A3 1811 broad.mit.edu 37 7 107432382 107432382 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:107432382A>G uc003ver.2 - 4 486 c.275T>C c.(274-276)TTA>TCA p.L92S SLC26A3_uc003ves.2_Missense_Mutation_p.L57S NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 92 Helical; (Potential). excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 AGCAAATGCTAAACCTGTAAA 0.423 NA 10 213 0 0 0.006214 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428789 120428789 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:120428789G>C uc003vjk.2 - 8 1149 c.775C>G c.(775-777)CAA>GAA p.Q259E TSPAN12_uc010lkj.2_Missense_Mutation_p.Q132E NM_012338 NP_036470 O95859 TSN12_HUMAN transmembrane 4 superfamily member 12 259 Cytoplasmic (Potential). angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction 0 all_neural(327;0.117) GACATCATTTGGTCTGTCCCC 0.468 NA 10 605 0 0 0.001368 0 0 C7orf58 79974 broad.mit.edu 37 7 120911454 120911455 + Missense_Mutation DNP AC AC TA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 AC AC - - AC AC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:120911454_120911455AC>TA uc003vjq.3 + 22 3285_3286 c.2838_2839AC>TA c.(2836-2841)CTACAG>CTTAAG p.Q947K NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 947 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AAGAGTTTCTACAGGGGAAGTG 0.327 NA 213 424 0 0 0.004672 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121623757 121623757 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:121623757C>G uc003vjy.2 + 7 1053 c.658C>G c.(658-660)CTT>GTT p.L220V PTPRZ1_uc003vjz.2_Missense_Mutation_p.L220V NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 220 Extracellular (Potential).|Alpha-carbonic anhydrase. central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACTGTTGAACCTTCTGCCAAA 0.393 NA 140 298 0 0 0.00361 0 0 ASB15 142685 broad.mit.edu 37 7 123257663 123257664 + Missense_Mutation DNP CC CC AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:123257663_123257664CC>AA uc003vku.1 + 7 615_616 c.323_324CC>AA c.(322-324)ACC>AAA p.T108K ASB15_uc003vkv.1_Missense_Mutation_p.T108K|ASB15_uc003vkw.1_Missense_Mutation_p.T108K NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN ankyrin repeat and SOCS box-containing 15 108 intracellular signal transduction skin(2)|lung(1) 3 GAATTCAAGACCTGTGATGGAG 0.386 NA 77 224 0 0 0.004672 0 0 Unknown 0 broad.mit.edu 37 7 124116525 124116525 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:124116525G>T uc011kod.1 + 1 101 c.101G>T c.(100-102)CGG>CTG p.R34L 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 CTAAGTGTCCGGTCTTTCGGA 0.498 NA 34 195 1.90571e-15 2.54723e-15 0.004289 1 0 GRM8 2918 broad.mit.edu 37 7 126173069 126173069 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:126173069G>A uc003vlr.2 - 8 2678 c.2367C>T c.(2365-2367)ACC>ACT p.T789T GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Silent_p.T789T|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 789 Helical; Name=6; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TGATGCAGGTGGTATACATGG 0.408 NA HNSCC(24;0.065) 17 193 0 0 0.010504 0 0 GRM8 2918 broad.mit.edu 37 7 126173340 126173340 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:126173340G>T uc003vlr.2 - 8 2407 c.2096C>A c.(2095-2097)ACC>AAC p.T699N GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.T699N|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 699 Helical; Name=4; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GAGGCTGAAGGTGATCACCAG 0.498 NA HNSCC(24;0.065) 50 86 3.21867e-24 4.84821e-24 0.00361 1 0 GRM8 2918 broad.mit.edu 37 7 126173694 126173694 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:126173694G>T uc003vlr.2 - 8 2053 c.1742C>A c.(1741-1743)TCT>TAT p.S581Y GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S581Y|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 581 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) AGCCCAGGGAGAATGCCACTC 0.512 NA HNSCC(24;0.065) 13 136 2.61681e-11 3.2597e-11 0.00245 1 0 CCDC136 64753 broad.mit.edu 37 7 128450286 128450286 + Missense_Mutation SNP C C A rs116868322 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:128450286C>A uc003vnv.1 + 12 2261 c.1894C>A c.(1894-1896)CAA>AAA p.Q632K CCDC136_uc003vnu.1_Intron|CCDC136_uc003vnw.1_Intron|CCDC136_uc003vnx.1_Missense_Mutation_p.Q448K|CCDC136_uc010llq.1_5'UTR|CCDC136_uc003vny.1_Missense_Mutation_p.Q242K NM_022742 NP_073579 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 632 integral to membrane protein binding ovary(2) 2 GATACAGAACCAAGACTGTGT 0.468 NA 30 25 2.47316e-13 3.21035e-13 0.003271 1 0 TNPO3 23534 broad.mit.edu 37 7 128658125 128658125 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:128658125C>T uc003vol.1 - 2 581 c.207G>A c.(205-207)ATG>ATA p.M69I TNPO3_uc003vom.1_Missense_Mutation_p.M3I|TNPO3_uc010lly.1_Missense_Mutation_p.M69I|TNPO3_uc010llz.1_Missense_Mutation_p.M69I NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 69 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 TCTGAATCTTCATTTTCATGG 0.453 Pancreas(147;583 2585 39696 52331) NA 6 290 0 0 0.001984 0 0 TSPAN33 340348 broad.mit.edu 37 7 128806740 128806740 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:128806740C>A uc003vop.1 + 6 810 c.581C>A c.(580-582)CCT>CAT p.P194H TSPAN33_uc003voq.1_Missense_Mutation_p.P26H NM_178562 NP_848657 Q86UF1 TSN33_HUMAN tetraspanin 33 194 Extracellular (Potential). integral to membrane ovary(1) 1 TTGCCTACTCCTGACCAGGTG 0.557 NA 38 131 1.465e-08 1.73487e-08 0.00874 1 0 PLXNA4 91584 broad.mit.edu 37 7 131866251 131866251 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:131866251G>A uc003vra.3 - 18 3610 c.3381C>T c.(3379-3381)TCC>TCT p.S1127S NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1127 Extracellular (Potential).|IPT/TIG 3. integral to membrane|intracellular|plasma membrane ovary(1) 1 GGATGAGCAGGGACTGGACGT 0.602 NA 49 211 0 0 0.00361 0 0 CREB3L2 64764 broad.mit.edu 37 7 137600584 137600584 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:137600584C>A uc003vtw.2 - 3 889 c.494G>T c.(493-495)GGG>GTG p.G165V CREB3L2_uc003vtx.1_Missense_Mutation_p.G165V|CREB3L2_uc003vty.3_Missense_Mutation_p.G165V|CREB3L2_uc003vtv.2_Missense_Mutation_p.G102V NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 165 Cytoplasmic (Potential). chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1) 160 TGAGCATACCCCAGTGTTCAT 0.458 NA T FUS fibromyxoid sarcoma 73 151 7.63117e-38 1.26406e-37 0.00361 1 0 MGAM 8972 broad.mit.edu 37 7 141734530 141734530 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:141734530G>T uc003vwy.2 + 16 1902 c.1848G>T c.(1846-1848)GCG>GCT p.A616A NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 616 Lumenal (Potential).|Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTACCTTTGCGGGCTCTGGCA 0.498 NA 22 181 1.42536e-11 1.78583e-11 0.004656 1 0 MGAM 8972 broad.mit.edu 37 7 141755465 141755465 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:141755465C>A uc003vwy.2 + 28 3476 c.3422C>A c.(3421-3423)TCC>TAC p.S1141Y NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1141 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GAGCACAGGTCCTATAGGAGA 0.542 NA 41 93 4.86159e-25 7.3951e-25 0.00361 1 0 MGAM 8972 broad.mit.edu 37 7 141765177 141765177 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:141765177C>A uc003vwy.2 + 38 4581 c.4527C>A c.(4525-4527)ACC>ACA p.T1509T NM_004668 NP_004659 O43451 MGA_HUMAN maltase-glucoamylase 1509 Glucoamylase.|Lumenal (Potential). polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity ovary(2) 2 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCGTCATCACCCGCTCCACAT 0.597 NA 15 14 1.02788e-11 1.29233e-11 0.00499 1 0 TRPV5 56302 broad.mit.edu 37 7 142625790 142625790 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:142625790G>T uc003wby.1 - 6 1022 c.758C>A c.(757-759)ACT>AAT p.T253N TRPV5_uc003wbz.2_Missense_Mutation_p.T253N NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 253 ANK 5.|Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TCTTACCACAGTGTTACCCTC 0.577 NA 8 36 0.00185496 0.00196215 0.001855 1 0 NOBOX 135935 broad.mit.edu 37 7 144097391 144097391 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:144097391G>A uc011kue.1 - 5 859 c.859C>T c.(859-861)CTA>TTA p.L287L NM_001080413 NP_001073882 O60393 NOBOX_HUMAN NOBOX oogenesis homeobox 287 Homeobox. cell differentiation|oogenesis nucleus sequence-specific DNA binding ovary(1) 1 Melanoma(164;0.14) ATCTTCTCTAGCTCCTCCAGC 0.507 NA 26 48 0 0 0.002445 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147259322 147259322 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:147259322C>A uc003weu.1 + 12 2386 c.1870C>A c.(1870-1872)CCT>ACT p.P624T NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 624 Extracellular (Potential).|Fibrinogen C-terminal. 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) ACCTCTGGGGCCTCTGAAAGT 0.413 NA HNSCC(39;0.1) 124 284 9.82225e-59 1.77096e-58 0.00361 1 0 TMEM176A 55365 broad.mit.edu 37 7 150500824 150500824 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:150500824C>T uc003whx.1 + 5 537 c.459C>T c.(457-459)ATC>ATT p.I153I TMEM176B_uc003whw.3_5'Flank NM_018487 NP_060957 Q96HP8 T176A_HUMAN hepatocellular carcinoma-associated antigen 112 153 integral to membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGCCGCATCTCCAGCTCGA 0.512 NA 26 55 0 0 0.008361 0 0 SMARCD3 6604 broad.mit.edu 37 7 150939644 150939644 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:150939644C>A uc003wjs.2 - 5 603 c.502G>T c.(502-504)GCG>TCG p.A168S SMARCD3_uc003wjt.2_Missense_Mutation_p.A155S|SMARCD3_uc003wju.2_Missense_Mutation_p.A155S|SMARCD3_uc011kvh.1_Missense_Mutation_p.A168S|SMARCD3_uc010lqa.1_Missense_Mutation_p.A168S NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN SWI/SNF related, matrix associated, actin 168 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding ovary(1)|lung(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TCAGGCTTCGCAGGGTTAAAA 0.577 NA 18 46 1.2644e-06 1.44656e-06 0.010504 1 0 MLL3 58508 broad.mit.edu 37 7 151962159 151962159 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:151962159C>A uc003wla.2 - 8 1367 c.1148G>T c.(1147-1149)TGG>TTG p.W383L NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 383 PHD-type 1.|RING-type. intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) AGGACATTGCCAACCTGCACG 0.438 Colon(68;14 1149 1884 27689 34759) NA N medulloblastoma 28 907 2.12542e-12 2.71651e-12 0.00632 1 0 PAXIP1 22976 broad.mit.edu 37 7 154775016 154775016 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:154775016C>A uc003wlp.2 - 5 394 c.351G>T c.(349-351)CTG>CTT p.L117L PAXIP1_uc003wlq.1_Silent_p.L83L|PAXIP1_uc011kvs.1_Silent_p.L81L|PAXIP1_uc003wlr.1_Silent_p.L26L NM_007349 NP_031375 Q6ZW49 PAXI1_HUMAN PAX interacting protein 1 117 BRCT 2.|Interaction with PA1 (By similarity). DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent histone methyltransferase complex|nuclear matrix lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0296) UCEC - Uterine corpus endometrioid carcinoma (81;0.178) CCAAAGCCCACAGGGCACTTC 0.423 NA 4 77 2.0095e-06 2.28208e-06 0.001984 1 0 CSMD1 64478 broad.mit.edu 37 8 2967787 2967787 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:2967787C>A uc011kwk.1 - 43 6894 c.6504G>T c.(6502-6504)CCG>CCT p.P2168P CSMD1_uc011kwj.1_Silent_p.P1560P|CSMD1_uc010lrg.2_Silent_p.P236P NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2168 Extracellular (Potential).|CUB 13. 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) CCTTCAGGATCGGATACTCAT 0.502 NA 8 23 3.07112e-06 3.48404e-06 0.000978 1 0 MCPH1 79648 broad.mit.edu 37 8 6338368 6338368 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:6338368C>T uc003wqi.2 + 11 2175 c.2107C>T c.(2107-2109)CGT>TGT p.R703C NM_024596 NP_078872 Q8NEM0 MCPH1_HUMAN microcephalin 703 BRCT 2. microtubule organizing center central_nervous_system(1)|skin(1) 2 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GGGAATTGCGCGTGGCTGCTG 0.512 Colon(95;1448 1467 8277 34473 35819) NA 15 100 0 0 0.006122 0 0 SOX7 83595 broad.mit.edu 37 8 10690446 10690446 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:10690446C>A uc011kwz.1 - 3 211 c.178G>T c.(178-180)GTG>TTG p.V60L PINX1_uc003wth.2_Missense_Mutation_p.V60L|PINX1_uc003wti.2_Missense_Mutation_p.V60L NM_031439 NP_113627 Q9BT81 SOX7_HUMAN SRY-box 7 Error:Variant_position_missing_in_Q9BT81_after_alignment endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway cytoplasm|nucleus transcription regulatory region DNA binding breast(1) 1 COAD - Colon adenocarcinoma(149;0.0732) TTATTTTTCACTTGAACTTTA 0.448 NA 4 34 0.00024832 0.000270348 0.009096 1 0 LGI3 203190 broad.mit.edu 37 8 22005801 22005801 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:22005801C>A uc003xav.2 - 8 1808 c.1519G>T c.(1519-1521)GAG>TAG p.E507* LGI3_uc010ltu.2_Nonsense_Mutation_p.E483* NM_139278 NP_644807 Q8N145 LGI3_HUMAN leucine-rich repeat LGI family, member 3 507 EAR 7. exocytosis cell junction|extracellular region|synaptic vesicle|synaptosome ovary(1) 1 Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999) ACAGCCAGCTCCTGGAACCGT 0.612 NA 5 21 3.59834e-05 3.98177e-05 0.001168 1 0 RHOBTB2 23221 broad.mit.edu 37 8 22868122 22868122 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:22868122C>T uc003xcq.2 + 7 2229 c.1692C>T c.(1690-1692)ACC>ACT p.T564T RHOBTB2_uc003xcp.2_Silent_p.T586T|RHOBTB2_uc011kzp.1_Silent_p.T571T|uc003xcr.2_Intron NM_015178 NP_055993 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 isoform 3 564 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding ovary(1)|lung(1) 2 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) GCATGTTCACCTCCAGCCCCG 0.587 NA 24 157 0 0 0.00632 0 0 EBF2 64641 broad.mit.edu 37 8 25744284 25744284 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:25744284C>G uc003xes.1 - 10 1013 c.996G>C c.(994-996)AGG>AGC p.R332S PPP2R2A_uc003xek.2_Intron|EBF2_uc010lug.1_RNA NM_022659 NP_073150 Q9HAK2 COE2_HUMAN early B-cell factor 2 332 IPT/TIG. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|metal ion binding p.R332S(1) ovary(3)|skin(1) 4 all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845) UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738) TGTAAATGAACCTTCCTGGGG 0.483 Esophageal Squamous(166;1018 1046 3854 8328 13429 13634 14071 26624 32918) NA 15 71 0 0 0.00499 0 0 C8orf80 389643 broad.mit.edu 37 8 27887919 27887919 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:27887919C>A uc003xgm.3 - 16 2068 c.1925G>T c.(1924-1926)GGG>GTG p.G642V NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 642 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) CTCCAGGCCCCCGAGGATGGC 0.463 NA 8 21 9.70103e-10 1.17325e-09 0.008291 1 0 C8orf80 389643 broad.mit.edu 37 8 27888782 27888782 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:27888782T>C uc003xgm.3 - 15 2029 c.1886A>G c.(1885-1887)AAA>AGA p.K629R NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 629 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) GAAATTTTTTTTGCAGCTATC 0.453 NA 54 343 0 0 0.00361 0 0 RP1 6101 broad.mit.edu 37 8 55538014 55538014 + Missense_Mutation SNP T T G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:55538014T>G uc003xsd.1 + 4 1720 c.1572T>G c.(1570-1572)GAT>GAG p.D524E RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 524 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ATAACAATGATCAAATGGAGG 0.348 Colon(91;1014 1389 7634 14542 40420) NA 4 60 0 0 0.000602 0 0 TRIM55 84675 broad.mit.edu 37 8 67064862 67064863 + Splice_Site DNP GG GG AT TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:67064862_67064863GG>AT uc003xvv.2 + 8 1462 c.1236_splice c.e8+1 p.Q412_splice TRIM55_uc003xvu.2_Splice_Site_p.Q412_splice|TRIM55_uc003xvw.2_Splice_Site_p.Q412_splice|TRIM55_uc003xvx.2_Intron NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CTGTGACACAGGTAACCCCTCC 0.54 NA 33 143 0 0 0.004672 0 0 NCOA2 10499 broad.mit.edu 37 8 71056877 71056877 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:71056877C>G uc003xyn.1 - 13 2974 c.2812G>C c.(2812-2814)GGA>CGA p.G938R NCOA2_uc011lfb.1_Intron NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 938 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GACCCCTTACCTGTGCTACTG 0.363 NA T RUNXBP2 AML 13 99 0 0 0.003163 0 0 TRAM1 23471 broad.mit.edu 37 8 71512306 71512306 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:71512306T>A uc003xyo.1 - 2 305 c.135A>T c.(133-135)AAA>AAT p.K45N TRAM1_uc011lfc.1_Missense_Mutation_p.K14N NM_014294 NP_055109 Q15629 TRAM1_HUMAN translocation associated membrane protein 1 45 Helical; (Potential). cotranslational protein targeting to membrane|transmembrane transport endoplasmic reticulum membrane|integral to membrane protein binding|receptor activity ovary(1) 1 Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509) TGATAGAAGCTTTTGCCGTTA 0.368 Ovarian(85;984 1334 5116 12432 40638) NA 47 72 0 0 0.00361 0 0 MSC 9242 broad.mit.edu 37 8 72754932 72754932 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:72754932A>T uc003xyx.1 - 2 903 c.585T>A c.(583-585)GTT>GTA p.V195V uc011lff.1_5'Flank|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 195 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) TGGCTGCGGAAACTTCTTTGG 0.468 NA 223 437 0 0 0.00361 0 0 CRISPLD1 83690 broad.mit.edu 37 8 75932301 75932301 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:75932301T>A uc003yan.2 + 12 1606 c.1231T>A c.(1231-1233)TCA>ACA p.S411T CRISPLD1_uc011lfk.1_Missense_Mutation_p.S223T|CRISPLD1_uc011lfl.1_Missense_Mutation_p.S223T NM_031461 NP_113649 Q9H336 CRLD1_HUMAN cysteine-rich secretory protein LCCL domain 411 LCCL 2. extracellular region ovary(1)|central_nervous_system(1) 2 Breast(64;0.0799) Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161) TAAGCCTGCTTCACATTGCCC 0.413 NA 17 261 0 0 0.010504 0 0 HNF4G 3174 broad.mit.edu 37 8 76472700 76472700 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:76472700C>A uc003yaq.2 + 10 1374 c.1104C>A c.(1102-1104)ATC>ATA p.I368I HNF4G_uc003yar.2_Silent_p.I405I NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 368 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) CAGACCAGATCTGTAAGTTTA 0.363 NA 20 164 1.00905e-13 1.31298e-13 0.008871 1 0 ZFHX4 79776 broad.mit.edu 37 8 77616685 77616685 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:77616685A>G uc003yav.2 + 2 749 c.362A>G c.(361-363)GAC>GGC p.D121G ZFHX4_uc003yat.1_Missense_Mutation_p.D121G|ZFHX4_uc003yau.1_Missense_Mutation_p.D121G|ZFHX4_uc003yaw.1_Missense_Mutation_p.D121G NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 121 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GAGTTAGAGGACAGTGACGTG 0.478 NA HNSCC(33;0.089) 13 313 0 0 0.001855 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690476 77690476 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:77690476C>A uc003yav.2 + 4 3435 c.3048C>A c.(3046-3048)CCC>CCA p.P1016P ZFHX4_uc003yau.1_Silent_p.P1042P|ZFHX4_uc003yaw.1_Silent_p.P1016P NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1016 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGTGAATCCCGAATCCTGCT 0.483 NA HNSCC(33;0.089) 195 337 3.39112e-68 6.3145e-68 0.00361 1 0 ZFHX4 79776 broad.mit.edu 37 8 77766770 77766770 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:77766770T>C uc003yav.2 + 10 7865 c.7478T>C c.(7477-7479)ATG>ACG p.M2493T ZFHX4_uc003yau.1_Missense_Mutation_p.M2538T|ZFHX4_uc003yaw.1_Missense_Mutation_p.M2493T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2493 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ATGCCCTACATGATATTTGAC 0.547 NA HNSCC(33;0.089) 92 460 0 0 0.00361 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775904 77775904 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:77775904G>C uc003yav.2 + 11 10206 c.9819G>C c.(9817-9819)CAG>CAC p.Q3273H NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3269 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) TGTTgcagcagtaccaacagt 0.323 NA HNSCC(33;0.089) 12 23 0 0 0.000978 0 0 CNGB3 54714 broad.mit.edu 37 8 87645122 87645122 + Splice_Site SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:87645122C>A uc003ydx.2 - 11 1225 c.1179_splice c.e11-1 p.E393_splice CNGB3_uc010maj.2_Splice_Site_p.E255_splice NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TCTCAGATACCTGTGAAAACA 0.303 NA 47 114 5.7761e-15 7.67305e-15 0.00361 1 0 RGS22 26166 broad.mit.edu 37 8 101051202 101051202 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:101051202T>C uc003yjb.1 - 14 2318 c.2123A>G c.(2122-2124)TAC>TGC p.Y708C RGS22_uc003yja.1_Missense_Mutation_p.Y527C|RGS22_uc003yjc.1_Missense_Mutation_p.Y696C|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 708 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGTTTCTTGGTAGAAAAGCTG 0.358 NA 26 194 0 0 0.008361 0 0 RIMS2 9699 broad.mit.edu 37 8 104943527 104943527 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:104943527A>G uc003yls.2 + 10 1856 c.1615A>G c.(1615-1617)ATA>GTA p.I539V RIMS2_uc003ylp.2_Missense_Mutation_p.I761V|RIMS2_uc003ylw.2_Missense_Mutation_p.I553V|RIMS2_uc003ylq.2_Missense_Mutation_p.I553V|RIMS2_uc003ylr.2_Missense_Mutation_p.I600V|RIMS2_uc003ylt.2_Missense_Mutation_p.I146V NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 823 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCACCAATTAATAGTTACAAT 0.338 NA HNSCC(12;0.0054) 14 126 0 0 0.004007 0 0 ZFPM2 23414 broad.mit.edu 37 8 106814424 106814424 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:106814424A>G uc003ymd.2 + 8 2137 c.2114A>G c.(2113-2115)CAC>CGC p.H705R ZFPM2_uc011lhs.1_Missense_Mutation_p.H436R NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 705 C2HC-type 3. blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TACATGGTCCACAAACAGTAT 0.517 NA 45 74 0 0 0.00361 0 0 RSPO2 340419 broad.mit.edu 37 8 109001368 109001368 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:109001368C>A uc003yms.2 - 3 857 c.199G>T c.(199-201)GGG>TGG p.G67W RSPO2_uc003ymq.2_Translation_Start_Site|RSPO2_uc003ymr.2_Intron NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 67 Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) TGGCGCATCCCTTCTCTTCGA 0.468 NA 147 295 8.54292e-67 1.58256e-66 0.00361 1 0 PKHD1L1 93035 broad.mit.edu 37 8 110478928 110478928 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:110478928C>A uc003yne.2 + 50 8639 c.8535C>A c.(8533-8535)CAC>CAA p.H2845Q NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2845 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) TCAGCTTTCACCGTTTAGCGT 0.438 NA HNSCC(38;0.096) 50 93 5.66675e-16 7.66929e-16 0.00361 1 0 CSMD3 114788 broad.mit.edu 37 8 113246706 113246706 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:113246706C>A uc003ynu.2 - 68 10787 c.10628G>T c.(10627-10629)GGG>GTG p.G3543V CSMD3_uc003yns.2_Missense_Mutation_p.G2745V|CSMD3_uc003ynt.2_Missense_Mutation_p.G3503V|CSMD3_uc011lhx.1_Missense_Mutation_p.G3374V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3543 Extracellular (Potential). 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 TTTATATACCCCTGTAAAATG 0.308 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 33 333 8.53417e-09 1.01732e-08 0.002836 1 0 CSMD3 114788 broad.mit.edu 37 8 113299394 113299394 + Missense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:113299394G>A uc003ynu.2 - 58 9389 c.9230C>T c.(9229-9231)ACT>ATT p.T3077I CSMD3_uc003yns.2_Missense_Mutation_p.T2279I|CSMD3_uc003ynt.2_Missense_Mutation_p.T3037I|CSMD3_uc011lhx.1_Missense_Mutation_p.T2908I NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3077 Extracellular (Potential).|Sushi 22. 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 ATAACGTACAGTACTTTTAGT 0.473 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 12 374 0 0 0.001855 0 0 CSMD3 114788 broad.mit.edu 37 8 113569119 113569119 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:113569119T>A uc003ynu.2 - 25 4266 c.4107A>T c.(4105-4107)CAA>CAT p.Q1369H CSMD3_uc003yns.2_Missense_Mutation_p.Q641H|CSMD3_uc003ynt.2_Missense_Mutation_p.Q1329H|CSMD3_uc011lhx.1_Missense_Mutation_p.Q1265H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1369 Extracellular (Potential).|Sushi 7. 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 CAAAGTGGCCTTGGTCACTGA 0.438 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 63 139 0 0 0.00361 0 0 CSMD3 114788 broad.mit.edu 37 8 113668510 113668510 + Silent SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:113668510T>A uc003ynu.2 - 18 3036 c.2877A>T c.(2875-2877)TCA>TCT p.S959S CSMD3_uc003yns.2_Silent_p.S231S|CSMD3_uc003ynt.2_Silent_p.S919S|CSMD3_uc011lhx.1_Silent_p.S855S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 959 Extracellular (Potential).|CUB 5. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CAAGCAAGGGTGACAGAAGAT 0.353 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 20 149 0 0 0.00278 0 0 CSMD3 114788 broad.mit.edu 37 8 113988292 113988292 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:113988292G>T uc003ynu.2 - 7 1275 c.1116C>A c.(1114-1116)AGC>AGA p.S372R CSMD3_uc003ynt.2_Missense_Mutation_p.S332R|CSMD3_uc011lhx.1_Intron NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 372 Extracellular (Potential). 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 CTGCAGGTGTGCTAGCAACAG 0.483 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 16 157 2.94398e-08 3.45974e-08 0.007413 1 0 HAS2 3037 broad.mit.edu 37 8 122641133 122641133 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:122641133T>A uc003yph.2 - 2 986 c.448A>T c.(448-450)AAC>TAC p.N150Y NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 150 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGGAAGTTGTTCTTCCAGATA 0.438 NA 34 555 0 0 0.002836 0 0 WDYHV1 55093 broad.mit.edu 37 8 124449458 124449458 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:124449458G>T uc003yqn.1 + 5 517 c.392G>T c.(391-393)AGA>ATA p.R131I WDYHV1_uc011lij.1_Missense_Mutation_p.R71I|WDYHV1_uc003yqo.1_RNA NM_018024 NP_060494 Q96HA8 NTAQ1_HUMAN WDYHV motif containing 1 131 protein modification process cytosol|nucleus protein binding|protein N-terminal glutamine amidohydrolase activity ovary(1)|skin(1) 2 AGGAAATTTAGAGTGATCCGT 0.408 NA 12 104 6.72482e-11 8.32891e-11 0.003163 1 0 FER1L6 654463 broad.mit.edu 37 8 125110055 125110055 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:125110055C>A uc003yqw.2 + 37 5020 c.4814C>A c.(4813-4815)ACT>AAT p.T1605N uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 1605 C2 6.|Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) ATCTGGAACACTGAAGATGTC 0.418 NA 145 237 2.89414e-53 5.1073e-53 0.00361 1 0 ADCY8 114 broad.mit.edu 37 8 131797656 131797656 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:131797656G>T uc003ytd.3 - 16 3382 c.3126C>A c.(3124-3126)GCC>GCA p.A1042A ADCY8_uc010mds.2_Silent_p.A911A NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1042 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) GGCCTGACACGGCCATGTAGG 0.498 NA HNSCC(32;0.087) 102 377 1.54771e-57 2.77663e-57 0.00361 1 0 TG 7038 broad.mit.edu 37 8 134125713 134125713 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:134125713C>A uc003ytw.2 + 44 7661 c.7620C>A c.(7618-7620)TAC>TAA p.Y2540* TG_uc010mdw.2_Nonsense_Mutation_p.Y1299*|TG_uc011ljb.1_Nonsense_Mutation_p.Y909*|TG_uc011ljc.1_Nonsense_Mutation_p.Y673* NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 2540 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGCCTTTTACCAGGCACTGC 0.488 NA 72 128 1.02218e-41 1.72763e-41 0.00361 1 0 FAM135B 51059 broad.mit.edu 37 8 139209901 139209901 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:139209901G>A uc003yuy.2 - 8 852 c.681C>T c.(679-681)TAC>TAT p.Y227Y FAM135B_uc003yux.2_Silent_p.Y128Y|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 227 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CAGAGGTGATGTAGAAGCTTC 0.582 NA HNSCC(54;0.14) 32 168 0 0 0.003755 0 0 COL22A1 169044 broad.mit.edu 37 8 139824060 139824060 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:139824060G>T uc003yvd.2 - 9 1878 c.1431C>A c.(1429-1431)TCC>TCA p.S477S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 477 Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CAGCTGGGCAGGAGCAGTTGA 0.592 NA HNSCC(7;0.00092) 129 187 8.32301e-65 1.53132e-64 0.00361 1 0 KIAA0020 9933 broad.mit.edu 37 9 2820099 2820099 + Splice_Site SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:2820099C>A uc003zhp.1 - 13 1285 c.1189_splice c.e13-1 p.G397_splice KIAA0020_uc010mhc.1_Splice_Site_p.G396_splice|KIAA0020_uc003zhq.1_Splice_Site_p.G396_splice NM_014878 NP_055693 Q15397 K0020_HUMAN KIAA0020 protein endoplasmic reticulum|nucleolus RNA binding ovary(1) 1 GBM - Glioblastoma multiforme(50;0.0319) AGTATTGGCCCTGCAAGAATT 0.403 NA 10 97 2.31682e-05 2.57425e-05 0.003163 1 0 GLDC 2731 broad.mit.edu 37 9 6534776 6534776 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:6534776A>G uc003zkc.2 - 24 3044 c.2851T>C c.(2851-2853)TCC>CCC p.S951P NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 951 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) CAGGTCAGGGAGTGTGGAGAC 0.537 NA 9 122 0 0 0.006214 0 0 PTPRD 5789 broad.mit.edu 37 9 8460541 8460541 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:8460541G>T uc003zkk.2 - 32 4456 c.3745C>A c.(3745-3747)CCC>ACC p.P1249T PTPRD_uc003zkp.2_Missense_Mutation_p.P838T|PTPRD_uc003zkq.2_Missense_Mutation_p.P838T|PTPRD_uc003zkr.2_Missense_Mutation_p.P833T|PTPRD_uc003zks.2_Missense_Mutation_p.P828T|PTPRD_uc003zkl.2_Missense_Mutation_p.P1240T|PTPRD_uc003zkm.2_Missense_Mutation_p.P1236T|PTPRD_uc003zkn.2_Missense_Mutation_p.P838T|PTPRD_uc003zko.2_Missense_Mutation_p.P835T NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1249 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GACACCACGGGGTCGGAGTAA 0.433 NA TSP Lung(15;0.13) 37 389 1.47197e-15 1.97237e-15 0.007835 1 0 FREM1 158326 broad.mit.edu 37 9 14784421 14784421 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:14784421C>A uc003zlm.2 - 24 4979 c.4389G>T c.(4387-4389)CAG>CAT p.Q1463H FREM1_uc010mic.2_Intron NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1463 CSPG 10. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) AGCAAACTGTCTGCCCCACTA 0.458 NA 52 137 1.4709e-25 2.24375e-25 0.00361 1 0 C9orf93 203238 broad.mit.edu 37 9 15745522 15745522 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:15745522A>C uc003zmd.2 + 18 2879 c.2564A>C c.(2563-2565)AAG>ACG p.K855T C9orf93_uc003zme.2_Missense_Mutation_p.K770T|C9orf93_uc011lmu.1_Missense_Mutation_p.K863T|C9orf93_uc003zmf.1_Missense_Mutation_p.K163T NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 855 0 GBM - Glioblastoma multiforme(50;4.84e-07) GAACATCAAAAGGAGCAGTTG 0.333 NA 133 416 0 0 0.00361 0 0 C9orf72 203228 broad.mit.edu 37 9 27556699 27556699 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:27556699C>T uc003zqq.2 - 8 1048 c.951G>A c.(949-951)CAG>CAA p.Q317Q NM_018325 NP_060795 Q96LT7 CI072_HUMAN hypothetical protein LOC203228 isoform a 317 ovary(3)|central_nervous_system(1) 4 all_neural(11;7.57e-10) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016) AGGGTGGCATCTGCTTCACAG 0.473 NA 12 176 0 0 0.003163 0 0 TOPORS 10210 broad.mit.edu 37 9 32544246 32544246 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:32544246C>G uc003zrb.2 - 3 444 c.277G>C c.(277-279)GTA>CTA p.V93L TOPORS_uc003zrc.2_Missense_Mutation_p.V26L NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 93 E3 ubiquitin-protein ligase activity.|Required for DNA-binding. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) TCAGCTGGTACTGTCTGTTGC 0.373 NA 7 102 0 0 0.006214 0 0 TAF1L 138474 broad.mit.edu 37 9 32633786 32633787 + Missense_Mutation DNP CC CC AA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:32633786_32633787CC>AA uc003zrg.1 - 1 1881_1882 c.1791_1792GG>TT c.(1789-1794)CAGGGT>CATTGT p.597_598QG>HC uc003zrh.1_RNA NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 597_598 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) CCCCGAAGACCCTGTTGCTTGG 0.48 NA 137 331 0 0 0.004672 0 0 C9orf131 138724 broad.mit.edu 37 9 35045842 35045842 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:35045842C>A uc003zvw.2 + 2 3245 c.3216C>A c.(3214-3216)CCC>CCA p.P1072P C9orf131_uc003zvu.2_Silent_p.P1024P|C9orf131_uc003zvv.2_Silent_p.P999P|C9orf131_uc003zvx.2_Silent_p.P1037P NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 1072 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) ACCATCGACCCCTACCCACCA 0.517 NA 116 393 5.22802e-61 9.52151e-61 0.00361 1 0 IGFBPL1 347252 broad.mit.edu 37 9 38414155 38414155 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:38414155C>A uc004aba.2 - 2 529 c.506G>T c.(505-507)GGG>GTG p.G169V NM_001007563 NP_001007564 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 169 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding 0 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) CACCTGCGCCCCGGTGACGTT 0.557 NA 15 76 4.35082e-09 5.21519e-09 0.010504 1 0 FAM75A3 727830 broad.mit.edu 37 9 40702834 40702834 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:40702834A>C uc010mmj.2 + 4 520 c.491A>C c.(490-492)GAT>GCT p.D164A NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 164 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CATCCTCAGGATCTGGCCTCC 0.587 NA 81 373 0 0 0.00361 0 0 FAM75A3 727830 broad.mit.edu 37 9 40702836 40702836 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:40702836C>T uc010mmj.2 + 4 522 c.493C>T c.(493-495)CTG>TTG p.L165L NM_001083124 NP_001076593 Q5VYP0 F75A3_HUMAN hypothetical protein LOC727830 165 Pro-rich. integral to membrane ovary(2)|skin(1) 3 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TCCTCAGGATCTGGCCTCCAC 0.587 NA 74 354 0 0 0.00361 0 0 PRUNE2 158471 broad.mit.edu 37 9 79234264 79234264 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:79234264C>A uc010mpk.2 - 18 9352 c.9228G>T c.(9226-9228)ATG>ATT p.M3076I PRUNE2_uc011lsk.1_Missense_Mutation_p.M325I|PRUNE2_uc011lsl.1_Missense_Mutation_p.M340I|PRUNE2_uc011lsm.1_Intron|PRUNE2_uc004akj.3_Missense_Mutation_p.M530I NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 3076 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ACTCCTTCTCCATAGAAGACA 0.428 NA 5 66 0.00116845 0.00123961 0.001168 1 0 GNAQ 2776 broad.mit.edu 37 9 80537207 80537207 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:80537207C>A uc004akw.2 - 2 232 c.191G>T c.(190-192)GGG>GTG p.G64V NM_002072 NP_002063 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), 64 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus cytoplasm|heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity eye(136)|skin(44)|meninges(11)|ovary(1)|kidney(1) 193 GTATCCTGACCCATGGATGAT 0.483 NA Mis uveal melanoma 181 634 4.16634e-53 7.34037e-53 0.00361 1 0 CEP78 84131 broad.mit.edu 37 9 80869847 80869847 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:80869847T>C uc004akx.2 + 11 1623 c.1347T>C c.(1345-1347)CCT>CCC p.P449P CEP78_uc004aky.3_Silent_p.P450P|CEP78_uc010mpp.2_Silent_p.P450P NM_032171 NP_115547 Q5JTW2 CEP78_HUMAN centrosomal protein 78kDa isoform b 449 G2/M transition of mitotic cell cycle centrosome|cytosol ovary(1) 1 ATGAAGTGCCTGAGAAAACTA 0.378 NA 3 80 0 0 0.009096 0 0 KIF27 55582 broad.mit.edu 37 9 86506225 86506225 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:86506225T>A uc004ana.2 - 6 1938 c.1794A>T c.(1792-1794)AGA>AGT p.R598S KIF27_uc010mpw.2_Missense_Mutation_p.R598S|KIF27_uc010mpx.2_Missense_Mutation_p.R598S NM_017576 NP_060046 Q86VH2 KIF27_HUMAN kinesin family member 27 598 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity lung(4)|skin(1) 5 TGGAATCTTGTCTTGATGGGA 0.358 NA 22 163 0 0 0.004656 0 0 C9orf64 84267 broad.mit.edu 37 9 86570403 86570403 + Nonsense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:86570403C>A uc004anb.2 - 2 738 c.490G>T c.(490-492)GGA>TGA p.G164* C9orf64_uc004anc.2_Nonsense_Mutation_p.G23* NM_032307 NP_115683 Q5T6V5 CI064_HUMAN hypothetical protein LOC84267 164 0 AAAGAGCCTCCAAACTTCTCC 0.443 NA 14 43 0.00316338 0.00333312 0.003163 1 0 Unknown 0 broad.mit.edu 37 9 90747884 90747884 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:90747884T>C uc011lti.1 - 3 352 c.323A>G c.(322-324)CAG>CGG p.Q108R SubName: Full=cDNA FLJ59639; NA GCCTCACCTCTGCAGTTGTGA 0.627 NA 13 302 0 0 0.006122 0 0 NFIL3 4783 broad.mit.edu 37 9 94172835 94172835 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:94172835C>A uc004arh.2 - 2 577 c.182G>T c.(181-183)CGG>CTG p.R61L NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 61 circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 CCGTTTCCTCCGACATGCAGA 0.433 Esophageal Squamous(152;732 1832 10053 26981 51762) NA 52 231 2.84144e-21 4.13578e-21 0.00361 1 0 OGN 4969 broad.mit.edu 37 9 95165620 95165621 + Missense_Mutation DNP GG GG TT TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:95165620_95165621GG>TT uc004asa.2 - 2 304_305 c.69_70CC>AA c.(67-72)ACCCAG>ACAAAG p.Q24K CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Missense_Mutation_p.Q24K|OGN_uc011ltx.1_Missense_Mutation_p.Q42K NM_014057 NP_054776 P20774 MIME_HUMAN osteoglycin preproprotein 24 extracellular space|proteinaceous extracellular matrix growth factor activity 0 GAGTCCTGCTGGGTTGGTGGTG 0.381 NA 34 85 0 0 0.004672 0 0 FAM120A 23196 broad.mit.edu 37 9 96318676 96318676 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:96318676G>T uc004atw.2 + 13 2312 c.2287G>T c.(2287-2289)GAT>TAT p.D763Y FAM120A_uc004aty.2_Missense_Mutation_p.D544Y|FAM120A_uc004atz.2_Missense_Mutation_p.D412Y|FAM120A_uc010mrg.2_Missense_Mutation_p.D76Y NM_014612 NP_055427 Q9NZB2 F120A_HUMAN oxidative stress-associated Src activator 763 cytoplasm|plasma membrane RNA binding 0 TGAGAACCTAGATCCCCGAGG 0.388 NA 6 94 0.00116845 0.00123961 0.001168 1 0 HEMGN 55363 broad.mit.edu 37 9 100693342 100693342 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:100693342C>A uc004axy.2 - 3 443 c.335G>T c.(334-336)GGG>GTG p.G112V HEMGN_uc004axz.2_Missense_Mutation_p.G112V NM_197978 NP_932095 Q9BXL5 HEMGN_HUMAN hemogen 112 cell differentiation|multicellular organismal development ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GGTTATGCTCCCAGGTGGCTC 0.423 NA 7 64 0.000157383 0.000172213 0.00308 1 0 COL15A1 1306 broad.mit.edu 37 9 101817383 101817383 + Splice_Site SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:101817383G>T uc004azb.1 + 33 3238 c.3032_splice c.e33-1 p.G1011_splice NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TTCTTTTTCAGGTCCTCCACT 0.353 NA 17 255 1.10513e-12 1.42089e-12 0.002299 1 0 PPP3R2 5535 broad.mit.edu 37 9 104356802 104356802 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:104356802G>T uc004bbr.2 - 1 482 c.411C>A c.(409-411)GAC>GAA p.D137E GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA NM_147180 NP_671709 Q96LZ3 CANB2_HUMAN protein phosphatase 3 regulatory subunit B, beta 134 EF-hand 4. calcium ion binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(62;0.0527) Cyclosporine(DB00091) TGATGGTTTTGTCGACCAGCT 0.522 NA 11 80 9.70103e-10 1.17325e-09 0.008291 1 0 OR13C4 138804 broad.mit.edu 37 9 107288712 107288712 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:107288712G>T uc011lvn.1 - 1 779 c.779C>A c.(778-780)GCA>GAA p.A260E NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 CTTAGGTTTTGCATACATAAA 0.468 NA 16 201 1.15088e-07 1.33507e-07 0.004007 1 0 OR13C5 138799 broad.mit.edu 37 9 107361248 107361248 + Missense_Mutation SNP C C A rs141723124 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:107361248C>A uc011lvp.1 - 1 447 c.447G>T c.(445-447)TGG>TGT p.W149C NM_001004482 NP_001004482 Q8NGS8 O13C5_HUMAN olfactory receptor, family 13, subfamily C, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1)|skin(1) 4 CTCCTATGATCCAGGACCCAG 0.458 NA 51 594 6.34439e-16 8.57565e-16 0.00361 1 0 OR13C2 392376 broad.mit.edu 37 9 107367610 107367610 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:107367610T>A uc011lvq.1 - 1 299 c.299A>T c.(298-300)CAG>CTG p.Q100L NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 100 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GAGGAACATCTGCACTGCACA 0.522 NA 20 441 0 0 0.00361 0 0 OR13C2 392376 broad.mit.edu 37 9 107367620 107367620 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:107367620A>T uc011lvq.1 - 1 289 c.289T>A c.(289-291)TGT>AGT p.C97S NM_001004481 NP_001004481 Q8NGS9 O13C2_HUMAN olfactory receptor, family 13, subfamily C, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCACTGCACAGCCAGAAAGG 0.532 NA 9 379 0 0 0.00361 0 0 SLC44A1 23446 broad.mit.edu 37 9 108136969 108136969 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:108136969G>T uc004bcn.2 + 13 1806 c.1585G>T c.(1585-1587)GTG>TTG p.V529L SLC44A1_uc010mtk.1_Missense_Mutation_p.V529L|SLC44A1_uc004bco.1_Missense_Mutation_p.V321L NM_080546 NP_536856 Q8WWI5 CTL1_HUMAN CDW92 antigen 529 Mitochondrial intermembrane (Potential). integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(3)|ovary(1) 4 Choline(DB00122) TGCTTTGCGAGTGGCTACCAT 0.393 NA 109 310 7.82945e-61 1.42354e-60 0.00361 1 0 MUSK 4593 broad.mit.edu 37 9 113563158 113563158 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:113563158C>A uc004bey.2 + 14 2598 c.2500C>A c.(2500-2502)CTC>ATC p.L834I MUSK_uc004bez.1_Missense_Mutation_p.L414I NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 834 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 GCTGTACAATCTCATGCGTCT 0.542 NA 43 140 3.39706e-21 4.92459e-21 0.00361 1 0 OR2K2 26248 broad.mit.edu 37 9 114090593 114090593 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:114090593C>T uc011lwp.1 - 1 121 c.121G>A c.(121-123)GGC>AGC p.G41S NM_205859 NP_995581 Q8NGT1 OR2K2_HUMAN olfactory receptor, family 2, subfamily K, 70 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GTGCTGTTGCCCAAGAGCGTT 0.413 NA 18 473 0 0 0.002299 0 0 C9orf84 158401 broad.mit.edu 37 9 114538232 114538232 + Missense_Mutation SNP G G T rs56921768 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:114538232G>T uc004bfr.2 - 3 224 c.89C>A c.(88-90)ACC>AAC p.T30N C9orf84_uc011lwt.1_RNA|C9orf84_uc004bfs.1_Missense_Mutation_p.T94N NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 30 ovary(2) 2 ATTAATCTGGGTCACCATTCT 0.318 NA 25 102 7.26314e-15 9.58948e-15 0.007291 1 0 COL27A1 85301 broad.mit.edu 37 9 117027389 117027389 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:117027389C>T uc011lxl.1 + 31 3338 c.3338C>T c.(3337-3339)CCT>CTT p.P1113L COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1113 Pro-rich.|Collagen-like 8.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 AGAGGCTTTCCTGTAAGTAGC 0.547 NA 26 46 0 0 0.003954 0 0 TNC 3371 broad.mit.edu 37 9 117826978 117826978 + Nonsense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:117826978A>C uc004bjj.3 - 11 3797 c.3435T>G c.(3433-3435)TAT>TAG p.Y1145* TNC_uc010mvf.2_Nonsense_Mutation_p.Y1145* NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1145 Fibronectin type-III 6. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GGATCACCCCATAGATGGAGA 0.537 NA 65 570 0 0 0.00361 0 0 TTLL11 158135 broad.mit.edu 37 9 124751501 124751501 + Silent SNP C C G rs144762491 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:124751501C>G uc004blt.1 - 4 1700 c.1512G>C c.(1510-1512)ACG>ACC p.T504T TTLL11_uc011lyl.1_Silent_p.T504T|TTLL11_uc004blr.2_RNA|TTLL11_uc011lym.1_Silent_p.T181T|TTLL11_uc004blu.1_3'UTR NM_194252 NP_919228 Q8NHH1 TTL11_HUMAN tubulin tyrosine ligase-like family, member 11 504 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity 0 CCGGCCTCCCCGTGGGGATGT 0.577 NA 8 188 0 0 0.001855 0 0 OR1J4 26219 broad.mit.edu 37 9 125281931 125281931 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:125281931A>T uc011lyw.1 + 1 512 c.512A>T c.(511-513)GAC>GTC p.D171V NM_001004452 NP_001004452 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTTGTGCTGACAACACCATC 0.512 NA 15 165 0 0 0.00245 0 0 OR1N2 138882 broad.mit.edu 37 9 125315646 125315646 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:125315646C>G uc011lyx.1 + 1 198 c.198C>G c.(196-198)ATC>ATG p.I66M NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 66 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 TCCTGGCCATCAGCTCTGACC 0.527 NA 102 706 0 0 0.00361 0 0 DENND1A 57706 broad.mit.edu 37 9 126641241 126641241 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:126641241C>A uc004bnz.1 - 2 310 c.77G>T c.(76-78)GGC>GTC p.G26V DENND1A_uc011lzm.1_Intron|DENND1A_uc004boa.1_Missense_Mutation_p.G26V|DENND1A_uc004bob.1_Missense_Mutation_p.A11S|DENND1A_uc004boc.2_Missense_Mutation_p.A11S NM_020946 NP_065997 Q8TEH3 DEN1A_HUMAN DENN/MADD domain containing 1A isoform 1 26 UDENN. cell junction|clathrin coated vesicle membrane|presynaptic membrane guanyl-nucleotide exchange factor activity ovary(2) 2 TGAAAGAGTGCCACCTGTCCT 0.358 NA 56 521 1.88225e-35 3.0523e-35 0.00361 1 0 GARNL3 84253 broad.mit.edu 37 9 130073925 130073925 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:130073925C>G uc011mae.1 + 3 631 c.230C>G c.(229-231)GCC>GGC p.A77G GARNL3_uc011mad.1_Missense_Mutation_p.A55G NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 77 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 AATGCAACTGCCCTGCCTGGT 0.413 NA 32 351 0 0 0.006999 0 0 GARNL3 84253 broad.mit.edu 37 9 130101923 130101923 + Splice_Site SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:130101923G>A uc011mae.1 + 13 1430 c.1029_splice c.e13-1 p.R343_splice GARNL3_uc011mad.1_Splice_Site_p.R321_splice|GARNL3_uc004bqt.1_Splice_Site_p.R124_splice NM_032293 NP_115669 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity ovary(1)|central_nervous_system(1)|skin(1) 3 TCTCTACTTAGGCTGAAAATA 0.284 NA 12 144 0 0 0.001855 0 0 STXBP1 6812 broad.mit.edu 37 9 130420719 130420719 + Missense_Mutation SNP C C G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:130420719C>G uc004brl.2 + 4 432 c.235C>G c.(235-237)CCA>GCA p.P79A STXBP1_uc004brk.2_Missense_Mutation_p.P79A NM_001032221 NP_001027392 P61764 STXB1_HUMAN syntaxin binding protein 1 isoform b 79 axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex identical protein binding|syntaxin-1 binding|syntaxin-2 binding skin(1) 1 TCTCATCACTCCATCCGAGAA 0.483 NA 45 331 0 0 0.00361 0 0 LAMC3 10319 broad.mit.edu 37 9 133914297 133914297 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:133914297G>T uc004caa.1 + 5 1121 c.1023G>T c.(1021-1023)GAG>GAT p.E341D NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 341 Laminin EGF-like 2. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TTGATCGGGAGCTCTTCCGCA 0.617 NA 8 96 0.000978159 0.00104699 0.000978 1 0 COL5A1 1289 broad.mit.edu 37 9 137646119 137646119 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:137646119G>T uc004cfe.2 + 16 2156 c.1774G>T c.(1774-1776)GGT>TGT p.G592C NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 592 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCCTGGCAGGGTCCTCGAGG 0.627 NA 5 8 0.000602214 0.000648446 0.000602 1 0 COL5A1 1289 broad.mit.edu 37 9 137658860 137658860 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:137658860G>T uc004cfe.2 + 23 2530 c.2148G>T c.(2146-2148)GAG>GAT p.E716D NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 716 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CCCAGGGAGAGCCTGGCCCCC 0.652 NA 3 4 0.004672 0.00487985 0.004672 1 0 SDCCAG3 10807 broad.mit.edu 37 9 139301896 139301896 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:139301896G>A uc004chi.2 - 5 725 c.520C>T c.(520-522)CTG>TTG p.L174L SDCCAG3_uc004chj.2_Silent_p.L151L|SDCCAG3_uc004chk.2_Silent_p.L101L NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 174 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) TCCTCATCCAGGAGGTCACCA 0.647 NA 4 3 0 0 0.000602 0 0 ARSF 416 broad.mit.edu 37 X 3002623 3002623 + Missense_Mutation SNP G G C rs148764513 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:3002623G>C uc004cre.1 + 6 967 c.746G>C c.(745-747)CGG>CCG p.R249P ARSF_uc004crf.1_Missense_Mutation_p.R249P NM_004042 NP_004033 P54793 ARSF_HUMAN arylsulfatase F precursor 249 extracellular region arylsulfatase activity|metal ion binding ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTCCTCATGCGGGGGCACGAG 0.493 NA 28 36 0 0 0.003271 0 0 MXRA5 25878 broad.mit.edu 37 X 3241316 3241316 + Missense_Mutation SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:3241316A>C uc004crg.3 - 5 2567 c.2410T>G c.(2410-2412)TTG>GTG p.L804V NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN adlican precursor 804 extracellular region ovary(5)|lung(1)|central_nervous_system(1)|skin(1) 8 all_lung(23;0.00031)|Lung NSC(23;0.000946) GTTTTAATCAATGGGGGTACT 0.473 NA 10 242 0 0 0.001368 0 0 HDHD1A 8226 broad.mit.edu 37 X 6995465 6995465 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:6995465C>A uc004crv.2 - 3 383 c.306G>T c.(304-306)CTG>CTT p.L102L HDHD1A_uc011mhm.1_Silent_p.L125L|HDHD1A_uc011mhn.1_Silent_p.L59L|HDHD1A_uc010ndl.2_Intron|HDHD1A_uc011mho.1_Silent_p.L102L NM_012080 NP_036212 Q08623 HDHD1_HUMAN haloacid dehalogenase-like hydrolase domain 102 nucleotide metabolic process metal ion binding|phosphatase activity 0 Colorectal(8;0.0114)|Medulloblastoma(8;0.184) CATGTTTCCGCAGGTGGATGA 0.592 NA 10 44 2.31682e-05 2.57425e-05 0.003163 1 0 CLCN4 1183 broad.mit.edu 37 X 10176257 10176257 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:10176257G>C uc004csy.3 + 9 1446 c.1016G>C c.(1015-1017)GGG>GCG p.G339A CLCN4_uc011mid.1_Missense_Mutation_p.G245A NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 339 Helical; (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 ATCCTGCTTGGGGTCTTCGGG 0.572 Melanoma(74;1050 1296 1576 30544 38374) NA 9 245 0 0 0.003163 0 0 ARHGAP6 395 broad.mit.edu 37 X 11187673 11187673 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:11187673G>T uc004cup.1 - 9 2634 c.1761C>A c.(1759-1761)ATC>ATA p.I587I ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Silent_p.I587I|ARHGAP6_uc004cum.1_Silent_p.I384I|ARHGAP6_uc004cun.1_Silent_p.I407I|ARHGAP6_uc010neb.1_Silent_p.I409I|ARHGAP6_uc011mif.1_Silent_p.I384I NM_013427 NP_038286 O43182 RHG06_HUMAN Rho GTPase activating protein 6 isoform 1 587 Rho-GAP. actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity urinary_tract(1)|lung(1) 2 CAACAGCGATGATGGCCGTGC 0.493 NA 128 194 3.58306e-76 6.72993e-76 0.00361 1 0 BEND2 139105 broad.mit.edu 37 X 18209221 18209221 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:18209221G>T uc004cyj.3 - 8 1342 c.1188C>A c.(1186-1188)GGC>GGA p.G396G BEND2_uc010nfb.2_Silent_p.G305G NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 396 ovary(3)|kidney(1)|central_nervous_system(1) 5 TCATTTGTGGGCCAGATTCTG 0.264 NA 82 131 3.47606e-37 5.73151e-37 0.00361 1 0 FAM48B2 170067 broad.mit.edu 37 X 24330389 24330389 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:24330389C>A uc011mjw.1 - 1 1044 c.1044G>T c.(1042-1044)TGG>TGT p.W348C NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 348 0 GCTTGGTGTCCCAGGCCTGAC 0.542 NA 50 72 8.18108e-13 1.05436e-12 0.00361 1 0 PCYT1B 9468 broad.mit.edu 37 X 24597530 24597530 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:24597530T>A uc004dbi.2 - 6 844 c.611A>T c.(610-612)GAC>GTC p.D204V PCYT1B_uc004dbk.3_Missense_Mutation_p.D204V|PCYT1B_uc004dbj.2_Missense_Mutation_p.D186V NM_004845 NP_004836 Q9Y5K3 PCY1B_HUMAN choline phosphate cytidylyltransferase 1 beta 204 Catalytic (Potential). endoplasmic reticulum choline-phosphate cytidylyltransferase activity 0 Choline(DB00122) GGTAATGATGTCCGATGTTGA 0.428 NA 241 389 0 0 0.00361 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999351 27999351 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:27999351G>T uc004dbx.1 - 1 216 c.101C>A c.(100-102)GCG>GAG p.A34E NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 34 ovary(3)|skin(1) 4 TGAGGAGGCCGCCGTCACCGC 0.562 NA 11 17 6.72482e-11 8.32891e-11 0.003163 1 0 FAM47C 442444 broad.mit.edu 37 X 37026967 37026967 + Missense_Mutation SNP G G C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:37026967G>C uc004ddl.1 + 1 498 c.484G>C c.(484-486)GCA>CCA p.A162P NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 162 ovary(3) 3 GCTGGAGGACGCAGGCTCTTG 0.582 NA 22 16 0 0 0.00278 0 0 FAM47C 442444 broad.mit.edu 37 X 37027514 37027514 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:37027514C>T uc004ddl.1 + 1 1045 c.1031C>T c.(1030-1032)CCA>CTA p.P344L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 344 ovary(3) 3 AGTCTCCACCCAGAGCCTCCC 0.622 NA 25 33 0 0 0.002445 0 0 RPGR 6103 broad.mit.edu 37 X 38146246 38146246 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:38146246C>A uc004ded.1 - 15 2174 c.2006G>T c.(2005-2007)TGG>TTG p.W669L RPGR_uc004deb.2_Intron|RPGR_uc004dea.2_Intron|RPGR_uc004dec.2_Intron NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 cTCATCTTGCCAGTGTTCTGC 0.289 NA 9 24 0.00829132 0.0086268 0.008291 1 0 MID1IP1 58526 broad.mit.edu 37 X 38664295 38664295 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:38664295G>A uc004dei.3 + 3 520 c.96G>A c.(94-96)GTG>GTA p.V32V MID1IP1_uc010ngz.2_Silent_p.V32V|MID1IP1_uc004dej.3_Silent_p.V32V NM_001098790 NP_001092260 Q9NPA3 M1IP1_HUMAN MID1 interacting G12-like protein 32 lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization cytosol|microtubule|nucleus 0 ACCAGACGGTGATGGTGCCCA 0.602 NA 21 27 0 0 0.00333 0 0 USP9X 8239 broad.mit.edu 37 X 41043661 41043661 + Silent SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:41043661C>T uc004dfb.2 + 23 3924 c.3291C>T c.(3289-3291)GCC>GCT p.A1097A USP9X_uc004dfc.2_Silent_p.A1097A NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 1097 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 TAGTCTATGCCTTGTTAATGC 0.398 Ovarian(172;1807 2695 35459 49286) NA 26 55 0 0 0.008361 0 0 ZC4H2 55906 broad.mit.edu 37 X 64139003 64139003 + Silent SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:64139003A>T uc004dvu.2 - 4 568 c.480T>A c.(478-480)GCT>GCA p.A160A ZC4H2_uc004dvv.2_Silent_p.A137A|ZC4H2_uc011mov.1_Silent_p.A137A|ZC4H2_uc011mow.1_Intron|ZC4H2_uc004dvw.1_3'UTR NM_018684 NP_061154 Q9NQZ6 ZC4H2_HUMAN zinc finger, C4H2 domain containing 160 metal ion binding|protein binding ovary(1) 1 GTTGGGCGGCAGCGGCTGCAG 0.582 NA 19 29 0 0 0.002836 0 0 HEPH 9843 broad.mit.edu 37 X 65417580 65417580 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:65417580G>T uc011moz.1 + 10 1626 c.1566G>T c.(1564-1566)TGG>TGT p.W522C HEPH_uc004dwn.2_Missense_Mutation_p.W522C|HEPH_uc004dwo.2_Missense_Mutation_p.W252C|HEPH_uc010nkr.2_Intron|HEPH_uc011mpa.1_Missense_Mutation_p.W522C NM_138737 NP_620074 Q9BQS7 HEPH_HUMAN hephaestin isoform a 519 Extracellular (Potential).|Plastocyanin-like 3. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity lung(5)|ovary(4) 9 CATACCGCTGGACAGTCCCCC 0.488 NA 59 83 2.49387e-53 4.40814e-53 0.00361 1 0 EDA2R 60401 broad.mit.edu 37 X 65824892 65824892 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:65824892G>A uc004dwq.2 - 2 275 c.264C>T c.(262-264)CCC>CCT p.P88P EDA2R_uc004dwr.2_Silent_p.P88P|EDA2R_uc004dws.2_Silent_p.P88P|EDA2R_uc011mpb.1_RNA|EDA2R_uc011mpc.1_Intron|EDA2R_uc010nkt.1_Silent_p.P88P|EDA2R_uc004dwt.1_Silent_p.P88P NM_021783 NP_068555 Q9HAV5 TNR27_HUMAN X-linked ectodysplasin receptor 88 TNFR-Cys 3.|Extracellular (Potential). cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity integral to plasma membrane tumor necrosis factor receptor activity upper_aerodigestive_tract(1) 1 AAGCTCACCTGGGCAAACAGT 0.478 NA 19 28 0 0 0.008871 0 0 GJB1 2705 broad.mit.edu 37 X 70443680 70443680 + Missense_Mutation SNP G G T rs116840816 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:70443680G>T uc004dzf.3 + 2 218 c.123G>T c.(121-123)GAG>GAT p.E41D BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzg.3_Missense_Mutation_p.E41D NM_001097642 NP_001091111 P08034 CXB1_HUMAN gap junction protein, beta 1, 32kDa 41 Helical; (Probable). E -> K (in CMTX1). cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development connexon complex|endoplasmic reticulum membrane|integral to membrane gap junction channel activity breast(1) 1 Renal(35;0.156) TGGCTGCAGAGAGTGTGTGGG 0.532 NA 34 63 1.16512e-39 1.94788e-39 0.006999 1 0 NHSL2 340527 broad.mit.edu 37 X 71360426 71360426 + Missense_Mutation SNP G G T rs140270842 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:71360426G>T uc011mqa.1 + 6 3028 c.3028G>T c.(3028-3030)GTG>TTG p.V1010L NHSL2_uc004eak.1_Missense_Mutation_p.V644L|NHSL2_uc010nli.2_Missense_Mutation_p.V779L NM_001013627 NP_001013649 Q5HYW2 NHSL2_HUMAN NHS-like 2 1010 0 Renal(35;0.156) AAAACCCAGCGTGCTGTACCT 0.532 NA 8 17 0.00621372 0.00647137 0.006214 1 0 UPRT 139596 broad.mit.edu 37 X 74520800 74520800 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:74520800G>T uc004ecb.1 + 6 952 c.823G>T c.(823-825)GGT>TGT p.G275C UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.G275C|UPRT_uc004ece.1_Missense_Mutation_p.G139C NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 275 nucleoside metabolic process cytoplasm|nucleus 0 CACTCCTCATGGTGAGTTCAG 0.423 NA 6 212 2.7689e-08 3.25752e-08 0.001984 1 0 TBX22 50945 broad.mit.edu 37 X 79277847 79277847 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:79277847C>A uc010nmg.1 + 2 213 c.79C>A c.(79-81)CCA>ACA p.P27T TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.P27T NM_001109878 NP_001103348 Q9Y458 TBX22_HUMAN T-box 22 isoform 1 27 multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1) 15 ACTCCAAGACCCAATACAGGC 0.607 NA 10 16 1.76689e-08 2.0878e-08 0.006214 1 0 BRWD3 254065 broad.mit.edu 37 X 79936970 79936970 + Silent SNP T T C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:79936970T>C uc004edt.2 - 40 4787 c.4524A>G c.(4522-4524)CTA>CTG p.L1508L BRWD3_uc010nmi.1_RNA|BRWD3_uc004edo.2_Silent_p.L1104L|BRWD3_uc004edp.2_Silent_p.L1337L|BRWD3_uc004edq.2_Silent_p.L1104L|BRWD3_uc010nmj.1_Silent_p.L1104L|BRWD3_uc004edr.2_Silent_p.L1178L|BRWD3_uc004eds.2_Silent_p.L1104L|BRWD3_uc004edu.2_Silent_p.L1178L|BRWD3_uc004edv.2_Silent_p.L1104L|BRWD3_uc004edw.2_Silent_p.L1104L|BRWD3_uc004edx.2_Silent_p.L1104L|BRWD3_uc004edy.2_Silent_p.L1104L|BRWD3_uc004edz.2_Silent_p.L1178L|BRWD3_uc004eea.2_Silent_p.L1178L|BRWD3_uc004eeb.2_Silent_p.L1104L NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 1508 ovary(4) 4 CAAGTAGATATAGTGAAAGCC 0.378 NA 72 80 0 0 0.00361 0 0 DACH2 117154 broad.mit.edu 37 X 85404014 85404014 + Silent SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:85404014C>A uc004eew.2 + 1 560 c.390C>A c.(388-390)ATC>ATA p.I130I DACH2_uc004eex.2_Silent_p.I130I|DACH2_uc010nmq.2_5'UTR NM_053281 NP_444511 Q96NX9 DACH2_HUMAN dachshund 2 isoform a 130 DACHbox-N. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding ovary(4)|pancreas(1) 5 AGGTCCGGATCCTCCGCGGGC 0.552 NA 7 23 7.48243e-07 8.5877e-07 0.006214 1 0 TRMT2B 79979 broad.mit.edu 37 X 100278506 100278506 + Missense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:100278506C>T uc004egq.2 - 7 1008 c.709G>A c.(709-711)GGG>AGG p.G237R TRMT2B_uc004egp.2_RNA|TRMT2B_uc004egr.2_Missense_Mutation_p.G237R|TRMT2B_uc004egs.2_Missense_Mutation_p.G237R|TRMT2B_uc004egt.2_Missense_Mutation_p.G237R|TRMT2B_uc004egu.2_Missense_Mutation_p.G118R|TRMT2B_uc004egv.2_Missense_Mutation_p.G192R NM_024917 NP_079193 Q96GJ1 TRM2_HUMAN TRM2 tRNA methyltransferase 2 homolog B 237 tRNA (uracil-5-)-methyltransferase activity ovary(1) 1 ATTGTGTGCCCTTGGCTATTG 0.443 NA 93 139 0 0 0.00361 0 0 TEX13B 56156 broad.mit.edu 37 X 107224574 107224574 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:107224574G>A uc004enn.1 - 3 768 c.675C>T c.(673-675)CTC>CTT p.L225L NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 225 ovary(1) 1 CAATAGCTCCGAGGGGCTGCC 0.592 NA 20 125 0 0 0.007413 0 0 TEX13B 56156 broad.mit.edu 37 X 107225113 107225113 + Missense_Mutation SNP T T A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:107225113T>A uc004enn.1 - 2 338 c.245A>T c.(244-246)CAG>CTG p.Q82L NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 82 ovary(1) 1 TAACTGCCCCTGCCTGTGGGC 0.617 NA 48 71 0 0 0.00361 0 0 GUCY2F 2986 broad.mit.edu 37 X 108628501 108628501 + Silent SNP A A C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:108628501A>C uc004eod.3 - 16 3243 c.2967T>G c.(2965-2967)GTT>GTG p.V989V GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 989 Guanylate cyclase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 CCACTCCAGCAACAACCGGCC 0.478 NA 4 99 0 0 0.006122 0 0 CXorf61 203413 broad.mit.edu 37 X 115593113 115593113 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:115593113G>T uc004eqj.1 - 2 257 c.137C>A c.(136-138)TCT>TAT p.S46Y NM_001017978 NP_001017978 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 46 Extracellular (Potential). integral to membrane|plasma membrane 0 AATTAACCCAGAAGAAGAGGG 0.398 NA 163 169 1.31883e-95 2.52095e-95 0.00361 1 0 LONRF3 79836 broad.mit.edu 37 X 118147138 118147138 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:118147138G>T uc004eqw.2 + 9 1979 c.1948G>T c.(1948-1950)GAC>TAC p.D650Y LONRF3_uc004eqx.2_Missense_Mutation_p.D609Y|LONRF3_uc004eqy.2_RNA|LONRF3_uc004eqz.2_Missense_Mutation_p.D394Y NM_001031855 NP_001027026 Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 650 Lon. proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1) 2 CAACACAGCCGACATTGAATA 0.488 NA 25 46 1.55811e-20 2.24667e-20 0.008361 1 0 ATP1B4 23439 broad.mit.edu 37 X 119512560 119512560 + Missense_Mutation SNP A A G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:119512560A>G uc004esr.2 + 7 928 c.844A>G c.(844-846)ATC>GTC p.I282V ATP1B4_uc004esq.2_Missense_Mutation_p.I278V|ATP1B4_uc011mtx.1_Missense_Mutation_p.I247V|ATP1B4_uc011mty.1_Missense_Mutation_p.I239V NM_001142447 NP_001135919 Q9UN42 AT1B4_HUMAN ATPase, (Na+)/K+ transporting, beta 4 282 Perinuclear space (Potential). ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to plasma membrane|nuclear inner membrane sodium:potassium-exchanging ATPase activity ovary(1)|skin(1) 2 CATCCGATCCATCAGTTACTA 0.478 NA 107 184 0 0 0.00361 0 0 STAG2 10735 broad.mit.edu 37 X 123156495 123156495 + Missense_Mutation SNP A A T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:123156495A>T uc004etz.3 + 2 357 c.18A>T c.(16-18)GAA>GAT p.E6D STAG2_uc004eua.2_Missense_Mutation_p.E6D|STAG2_uc004eub.2_Missense_Mutation_p.E6D|STAG2_uc004euc.2_Missense_Mutation_p.E6D|STAG2_uc004eud.2_Missense_Mutation_p.E6D|STAG2_uc004eue.2_Missense_Mutation_p.E6D NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 6 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 CAGCTCCAGAAATACCAACTG 0.308 NA 17 16 0 0 0.010504 0 0 FHL1 2273 broad.mit.edu 37 X 135288623 135288623 + Missense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:135288623G>T uc004ezo.2 + 2 132 c.32G>T c.(31-33)AGG>ATG p.R11M FHL1_uc010nrz.2_Missense_Mutation_p.R11M|FHL1_uc004ezm.2_RNA|FHL1_uc004ezl.2_Missense_Mutation_p.R11M|FHL1_uc004ezq.2_Missense_Mutation_p.R11M|FHL1_uc011mvy.1_Missense_Mutation_p.R11M|FHL1_uc011mvz.1_Missense_Mutation_p.R11M|FHL1_uc004ezn.2_Missense_Mutation_p.R11M|FHL1_uc011mwa.1_Missense_Mutation_p.R40M|FHL1_uc011mwb.1_RNA|FHL1_uc004ezp.2_Missense_Mutation_p.R27M|FHL1_uc004ezr.2_5'Flank NM_001159702 NP_001153174 Q13642 FHL1_HUMAN four and a half LIM domains 1 isoform 1 11 C4-type (Potential). cell differentiation|cell growth|muscle organ development|organ morphogenesis cytosol|nucleus|plasma membrane protein binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) CACTACTGCAGGGATCCCTTG 0.557 NA 117 179 1.21703e-59 2.20166e-59 0.00361 1 0 GPR112 139378 broad.mit.edu 37 X 135429796 135429796 + Nonsense_Mutation SNP C C T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:135429796C>T uc004ezu.1 + 6 4222 c.3931C>T c.(3931-3933)CAA>TAA p.Q1311* GPR112_uc010nsb.1_Nonsense_Mutation_p.Q1106*|GPR112_uc010nsc.1_Nonsense_Mutation_p.Q1078* NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1311 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TTCCAGTCACCAAACACATTC 0.443 NA 132 206 0 0 0.00361 0 0 MAGEC1 9947 broad.mit.edu 37 X 140995285 140995285 + Missense_Mutation SNP C C A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:140995285C>A uc004fbt.2 + 4 2381 c.2095C>A c.(2095-2097)CTT>ATT p.L699I MAGEC1_uc010nsl.1_Intron NM_005462 NP_005453 O60732 MAGC1_HUMAN melanoma antigen family C, 1 699 protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) TCAGAGTCCTCTTGAGGGAGA 0.562 NA HNSCC(15;0.026) 23 30 3.28513e-13 4.25412e-13 0.003954 1 0 AFF2 2334 broad.mit.edu 37 X 147743879 147743879 + Nonsense_Mutation SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:147743879G>T uc004fcp.2 + 3 1110 c.631G>T c.(631-633)GAG>TAG p.E211* AFF2_uc004fco.2_Nonsense_Mutation_p.E207*|AFF2_uc004fcq.2_Nonsense_Mutation_p.E207*|AFF2_uc004fcr.2_Nonsense_Mutation_p.E207*|AFF2_uc011mxb.1_Nonsense_Mutation_p.E211*|AFF2_uc004fcs.2_Nonsense_Mutation_p.E207* NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 211 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AGAAGTTGAAGAGTCAAACCC 0.433 NA 183 258 2.40723e-144 4.65915e-144 0.00361 1 0 GABRE 2564 broad.mit.edu 37 X 151131077 151131077 + Silent SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:151131077G>A uc004ffi.2 - 4 435 c.381C>T c.(379-381)TAC>TAT p.Y127Y GABRE_uc011myd.1_RNA|GABRE_uc011mye.1_RNA|MIR452_hsa-mir-452|MI0001733_5'Flank NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 127 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) GGCGTTCGTCGTACCAGGTCT 0.463 NA 11 209 0 0 0.00245 0 0 ATP2B3 492 broad.mit.edu 37 X 152814180 152814180 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:152814180G>A uc004fht.1 + 8 1332 c.1206G>A c.(1204-1206)TGG>TGA p.W402* ATP2B3_uc004fhs.1_Nonsense_Mutation_p.W402* NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 402 Extracellular (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) GCCGGACATGGCTGGCAGAGT 0.562 NA 7 50 0 0 0.006214 0 0 F8 2157 broad.mit.edu 37 X 154157069 154157069 + Nonsense_Mutation SNP G G A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:154157069G>A uc004fmt.2 - 14 5167 c.4996C>T c.(4996-4998)CAA>TAA p.Q1666* NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1666 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) ATTTCCCGTTGATGGCGTTTC 0.408 NA 24 341 0 0 0.003954 0 0 RAB39B 116442 broad.mit.edu 37 X 154490316 154490316 + Silent SNP G G T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:154490316G>T uc004fne.2 - 2 693 c.414C>A c.(412-414)GCC>GCA p.A138A NM_171998 NP_741995 Q96DA2 RB39B_HUMAN RAB39B, member RAS oncogene family 138 protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport Golgi apparatus|plasma membrane GTP binding 0 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) CCAGTTTCTCGGCCTCGTGGC 0.488 NA 73 110 3.80779e-57 6.81993e-57 0.00361 1 0 RERE 473 broad.mit.edu 37 1 8716109 8716109 + Frame_Shift_Del DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:8716109delT uc001ape.2 - 3 1058 c.248delA c.(247-249)AAGfs p.K83fs RERE_uc001apf.2_Frame_Shift_Del_p.K83fs|RERE_uc001aph.1_Frame_Shift_Del_p.K83fs NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 83 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATAACGAGACTTTTTTTTCGG 0.453 NA 8 1345 --- --- --- --- NA NA NA NA NA MST1P9 11223 broad.mit.edu 37 1 17085406 17085407 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:17085406_17085407insG uc010ock.1 - 10 1284_1285 c.1284_1285insC c.(1282-1287)TGCACAfs p.C428fs CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 CCTCCAGTTGTGCATGCGGTTC 0.579 NA 8 83 --- --- --- --- NA NA NA NA NA PUM1 9698 broad.mit.edu 37 1 31406073 31406074 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:31406073_31406074insG uc001bsi.1 - 22 3658_3659 c.3545_3546insC c.(3544-3546)CCTfs p.P1182fs PUM1_uc001bsf.1_Frame_Shift_Ins_p.P850fs|PUM1_uc001bsg.1_Frame_Shift_Ins_p.P916fs|PUM1_uc001bsh.1_Frame_Shift_Ins_p.P1184fs|PUM1_uc001bsj.1_Frame_Shift_Ins_p.P1158fs|PUM1_uc010oga.1_Frame_Shift_Ins_p.P1040fs|PUM1_uc001bsk.1_Frame_Shift_Ins_p.P1220fs|PUM1_uc010ogb.1_Frame_Shift_Ins_p.P1123fs NM_014676 NP_055491 Q14671 PUM1_HUMAN pumilio 1 isoform 2 1182 cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) TGATACCATTAGGGGGGCCACA 0.525 NA 7 610 --- --- --- --- NA NA NA NA NA KHDRBS1 10657 broad.mit.edu 37 1 32503458 32503459 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:32503458_32503459insG uc001bub.2 + 6 1034_1035 c.928_929insG c.(928-930)CGGfs p.R310fs KHDRBS1_uc001bua.1_Frame_Shift_Ins_p.R271fs|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 310 Arg/Gly-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGACCACCTCGGGGGGCTTTG 0.5 Ovarian(173;401 1982 12359 31110 42403) NA 8 285 --- --- --- --- NA NA NA NA NA ZBTB8A 653121 broad.mit.edu 37 1 33065979 33065981 + In_Frame_Del DEL GAA GAA - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 GAA GAA - - GAA GAA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:33065979_33065981delGAA uc001bvn.2 + 5 1770_1772 c.1285_1287delGAA c.(1285-1287)GAAdel p.E433del ZBTB8A_uc001bvk.2_RNA|ZBTB8A_uc001bvm.2_3'UTR|ZBTB8OS_uc001bvo.1_Intron NM_001040441 NP_001035531 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 433 Poly-Glu. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGATGATAGTGAAGAAGAAGAAG 0.414 NA 7 333 --- --- --- --- NA NA NA NA NA RNF19B 127544 broad.mit.edu 37 1 33402697 33402698 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:33402697_33402698insG uc010oho.1 - 9 1908_1909 c.1908_1909insC c.(1906-1911)CCCTGCfs p.P636fs RNF19B_uc001bwm.3_3'UTR|RNF19B_uc010ohp.1_Frame_Shift_Ins_p.P635fs NM_153341 NP_699172 Q6ZMZ0 RN19B_HUMAN ring finger protein 19B isoform a 636_637 integral to membrane ligase activity|protein binding|zinc ion binding 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGGTGTCTGCAGGGGGGATCCT 0.559 NA 12 458 --- --- --- --- NA NA NA NA NA CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:36935322_36935323insG uc001caw.1 - 11 1582_1583 c.1404_1405insC c.(1402-1407)CCCAGCfs p.P468fs CSF3R_uc001cat.1_Frame_Shift_Ins_p.P31fs|CSF3R_uc009vvc.1_Frame_Shift_Ins_p.P31fs|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Frame_Shift_Ins_p.P468fs|CSF3R_uc001cax.1_Frame_Shift_Ins_p.P468fs|CSF3R_uc001cay.1_Frame_Shift_Ins_p.P468fs NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 468_469 Extracellular (Potential).|Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 NA 10 181 --- --- --- --- NA NA NA NA NA HIVEP3 59269 broad.mit.edu 37 1 42048867 42048868 + Frame_Shift_Ins INS - - G rs151333512 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:42048867_42048868insG uc001cgz.3 - 4 2814_2815 c.1601_1602insC c.(1600-1602)CCTfs p.P534fs HIVEP3_uc001cha.3_Frame_Shift_Ins_p.P534fs|HIVEP3_uc001cgy.2_RNA NM_024503 NP_078779 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer 534 No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity). positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) GGAGAGGCACAGGGGGGGCGGT 0.594 NA 7 111 --- --- --- --- NA NA NA NA NA ZMYND12 84217 broad.mit.edu 37 1 42898878 42898879 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:42898878_42898879insG uc001chj.2 - 7 1180_1181 c.910_911insC c.(910-912)CAAfs p.Q304fs ZMYND12_uc010ojt.1_Frame_Shift_Ins_p.Q194fs NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 304 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GATGGTTTTTTGGGGGGCTTTG 0.411 NA 13 528 --- --- --- --- NA NA NA NA NA KIAA0467 23334 broad.mit.edu 37 1 43896326 43896327 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:43896326_43896327insG uc001cjk.1 + 17 2405_2406 c.1943_1944insG c.(1942-1944)TTGfs p.L648fs NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1547 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TTCAGTATCTTGGGGGGCGACT 0.609 NA 7 378 --- --- --- --- NA NA NA NA NA KDM4A 9682 broad.mit.edu 37 1 44156564 44156565 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:44156564_44156565insC uc001cjx.2 + 14 2252_2253 c.2086_2087insC c.(2086-2088)GCCfs p.A696fs KDM4A_uc010oki.1_Intron NM_014663 NP_055478 O75164 KDM4A_HUMAN jumonji domain containing 2A 696 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|nucleolus histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 TTCAGATTTAGCCCCCCAGAAG 0.47 NA 9 647 --- --- --- --- NA NA NA NA NA PIK3R3 8503 broad.mit.edu 37 1 46546323 46546324 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:46546323_46546324insC uc001cpb.3 - 2 961_962 c.205_206insG c.(205-207)GATfs p.D69fs PIK3R3_uc009vyb.2_Frame_Shift_Ins_p.D69fs|PIK3R3_uc009vyc.2_Frame_Shift_Ins_p.D86fs|PIK3R3_uc001cpc.3_Frame_Shift_Ins_p.D69fs|PIK3R3_uc010olw.1_Frame_Shift_Ins_p.D115fs NM_003629 NP_003620 Q92569 P55G_HUMAN phosphoinositide-3-kinase, regulatory subunit 3 69 SH2 1. insulin receptor signaling pathway|platelet activation|T cell costimulation 1-phosphatidylinositol-3-kinase activity|protein binding 0 Acute lymphoblastic leukemia(166;0.155) CCTTGAAATATCCCCCCAGTAC 0.351 NA 10 1160 --- --- --- --- NA NA NA NA NA FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:55081756_55081757insG uc001cxn.2 - 3 483_484 c.351_352insC c.(349-354)CCCACTfs p.P117fs ACOT11_uc001cxm.1_Intron NM_176782 NP_788954 Q8WW52 F151A_HUMAN hypothetical protein LOC338094 117_118 integral to membrane 0 CTGTAGATAGTGGGGGGGTGTG 0.594 NA 18 262 --- --- --- --- NA NA NA NA NA FGGY 55277 broad.mit.edu 37 1 59812016 59812017 + Frame_Shift_Ins INS - - G rs145440779 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:59812016_59812017insG uc001czi.3 + 4 623_624 c.411_412insG c.(409-414)GTCGGGfs p.V137fs FGGY_uc001czg.2_Frame_Shift_Ins_p.V25fs|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Frame_Shift_Ins_p.V137fs|FGGY_uc001czj.3_Frame_Shift_Ins_p.V137fs|FGGY_uc001czk.3_Frame_Shift_Ins_p.V25fs|FGGY_uc001czl.3_Intron NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 137_138 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) TCCAGTACGTCGGGGGGGTGAT 0.5 NA 14 345 --- --- --- --- NA NA NA NA NA JAK1 3716 broad.mit.edu 37 1 65325832 65325833 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:65325832_65325833insG uc001dbu.1 - 9 1538_1539 c.1289_1290insC c.(1288-1290)CCGfs p.P430fs JAK1_uc009wam.1_Frame_Shift_Ins_p.P418fs NM_002227 NP_002218 P23458 JAK1_HUMAN janus kinase 1 430 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity p.P430fs*2(1) haematopoietic_and_lymphoid_tissue(34)|prostate(7)|soft_tissue(6)|lung(4)|breast(3)|central_nervous_system(2)|liver(2)|large_intestine(1)|stomach(1)|ovary(1) 61 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGACGATCAACGGGGGGGCCAC 0.54 NA Mis ALL 9 272 --- --- --- --- NA NA NA NA NA LRRIQ3 127255 broad.mit.edu 37 1 74575212 74575213 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:74575212_74575213insT uc001dfy.3 - 5 924_925 c.732_733insA c.(730-735)AAACAGfs p.K244fs LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 244_245 QQEKII -> TAGKNY (in Ref. 1; BAD18621). ovary(2) 2 TTTTCCTGCTGTTTTTTTTTGT 0.327 NA 9 140 --- --- --- --- NA NA NA NA NA GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:89613321_89613322insC uc001dna.2 - 8 1432_1433 c.1293_1294insG c.(1291-1296)GGGCACfs p.G431fs GBP2_uc001dmy.1_RNA NM_207398 NP_997281 Q8N8V2 GBP7_HUMAN guanylate binding protein 4-like 431_432 integral to membrane GTP binding|GTPase activity ovary(1)|skin(1) 2 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 NA 17 200 --- --- --- --- NA NA NA NA NA C1orf183 55924 broad.mit.edu 37 1 112269924 112269925 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:112269924_112269925insC uc001ebo.1 - 2 717_718 c.559_560insG c.(559-561)GCAfs p.A187fs C1orf183_uc001ebp.1_Frame_Shift_Ins_p.A172fs NM_019099 NP_061972 Q9NTI7 CA183_HUMAN hypothetical protein LOC55924 isoform 1 187 ovary(2) 2 all_cancers(81;7.29e-06)|all_epithelial(167;4.98e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.16e-05) Lung(183;0.0155)|Colorectal(144;0.0289)|all cancers(265;0.0592)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0852)|COAD - Colon adenocarcinoma(174;0.113) GGGTTCACGTGCCCCCCCAGTC 0.579 NA 10 200 --- --- --- --- NA NA NA NA NA SPAG17 200162 broad.mit.edu 37 1 118583386 118583387 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:118583386_118583387insC uc001ehk.2 - 22 3200_3201 c.3132_3133insG c.(3130-3135)GGGCAGfs p.G1044fs NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1044_1045 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ACTTCAATCTGCCCCCCATCAG 0.371 NA 7 371 --- --- --- --- NA NA NA NA NA NBPF7 343505 broad.mit.edu 37 1 120379931 120379932 + Frame_Shift_Ins INS - - G rs115348036 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:120379931_120379932insG uc010oxk.1 - 6 1510_1511 c.889_890insC c.(889-891)CAGfs p.Q297fs NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 297 NBPF 2. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CAGAGTTACCTGGGGGGGCACT 0.446 NA 7 185 --- --- --- --- NA NA NA NA NA LOC647121 647121 broad.mit.edu 37 1 121309960 121309961 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:121309960_121309961insA uc009wht.1 + 3 338_339 c.309_310insA c.(307-312)AGCAATfs p.S103fs LOC647121_uc001eiu.1_RNA Homo sapiens cDNA FLJ46881 fis, clone UTERU3015647, moderately similar to Embigin precursor. 0 CAGATGATAGCAATGGTATAGA 0.277 NA 15 63 --- --- --- --- NA NA NA NA NA ITGA10 8515 broad.mit.edu 37 1 145534121 145534122 + Frame_Shift_Ins INS - - C rs147270843 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:145534121_145534122insC uc001eoa.2 + 14 1702_1703 c.1626_1627insC c.(1624-1629)GAACCCfs p.E542fs NBPF10_uc001emp.3_Intron|ITGA10_uc010oyv.1_Frame_Shift_Ins_p.E411fs|ITGA10_uc009wiw.2_Frame_Shift_Ins_p.E399fs|ITGA10_uc010oyw.1_Frame_Shift_Ins_p.E487fs NM_003637 NP_003628 O75578 ITA10_HUMAN integrin, alpha 10 precursor 542_543 Extracellular (Potential).|FG-GAP 6. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity lung(2)|ovary(2)|kidney(2)|large_intestine(1)|skin(1) 8 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCAGCCAGAACCCCCCCAGGA 0.554 NA 16 443 --- --- --- --- NA NA NA NA NA PIAS3 10401 broad.mit.edu 37 1 145579284 145579285 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:145579284_145579285insC uc001eoc.1 + 5 712_713 c.621_622insC c.(619-624)TTTCCCfs p.F207fs NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_Frame_Shift_Ins_p.F198fs|PIAS3_uc001eod.1_5'Flank NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 207_208 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) AAGATTATTTTCCCCCCAACCT 0.465 NA 7 229 --- --- --- --- NA NA NA NA NA PIAS3 10401 broad.mit.edu 37 1 145584022 145584023 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:145584022_145584023insC uc001eoc.1 + 10 1344_1345 c.1253_1254insC c.(1252-1254)TGCfs p.C418fs NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Frame_Shift_Ins_p.C87fs NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 418 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTGAGGTTTGCCCCCCGCCAG 0.5 NA 12 551 --- --- --- --- NA NA NA NA NA BCL9 607 broad.mit.edu 37 1 147090981 147090982 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:147090981_147090982insC uc001epq.2 + 8 1760_1761 c.1020_1021insC c.(1018-1023)GAGCCCfs p.E340fs BCL9_uc010ozr.1_Frame_Shift_Ins_p.E266fs NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 340_341 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) CCAGTGGCGAGCCCCCCACACT 0.589 NA T IGH@|IGL@ B-ALL 7 211 --- --- --- --- NA NA NA NA NA BCL9 607 broad.mit.edu 37 1 147092680 147092681 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:147092680_147092681insC uc001epq.2 + 8 3459_3460 c.2719_2720insC c.(2719-2721)TCCfs p.S907fs BCL9_uc010ozr.1_Frame_Shift_Ins_p.S833fs NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 907 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) TTCCATTAAGTCCCCCCCTGTT 0.619 NA T IGH@|IGL@ B-ALL 8 204 --- --- --- --- NA NA NA NA NA CELF3 11189 broad.mit.edu 37 1 151680126 151680127 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:151680126_151680127insG uc001eys.1 - 7 1425 c.631_splice c.e7-1 p.L211_splice CELF3_uc010pdh.1_Splice_Site_p.L19_splice|CELF3_uc001eyr.2_Splice_Site_p.L210_splice|CELF3_uc009wmy.2_Splice_Site_p.L211_splice|CELF3_uc009wmx.1_Splice_Site_p.L211_splice|CELF3_uc001eyt.2_Intron|C1orf230_uc001eyu.2_5'Flank NM_007185 NP_009116 Q5SZQ8 CELF3_HUMAN trinucleotide repeat containing 4 nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding ovary(1)|central_nervous_system(1) 2 CTGCATCAGCTGGGGGGAGGGG 0.693 NA 2 4 --- --- --- --- NA NA NA NA NA HAX1 10456 broad.mit.edu 37 1 154246356 154246357 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:154246356_154246357insG uc001fes.2 + 3 584_585 c.423_424insG c.(421-426)TTTGGGfs p.F141fs HAX1_uc001fet.2_Frame_Shift_Ins_p.F93fs|HAX1_uc010peo.1_Frame_Shift_Ins_p.F149fs|HAX1_uc009wou.2_Frame_Shift_Ins_p.F66fs|HAX1_uc009wov.2_Frame_Shift_Ins_p.F115fs NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 141_142 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCAGGATCTTTGGGGGGGTCTT 0.554 NA Kostmann_syndrome 7 244 --- --- --- --- NA NA NA NA NA MRPL24 79590 broad.mit.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:156708444_156708445insG uc001fpw.1 - 2 191_192 c.52_53insC c.(52-54)CATfs p.H18fs MRPL24_uc001fpx.1_Frame_Shift_Ins_p.H18fs NM_024540 NP_078816 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 precursor 18 translation mitochondrion|ribosome structural constituent of ribosome 0 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAGA 0.574 NA 9 81 --- --- --- --- NA NA NA NA NA PRCC 5546 broad.mit.edu 37 1 156761535 156761536 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:156761535_156761536insC uc001fqa.2 + 4 1420_1421 c.1130_1131insC c.(1129-1131)GTCfs p.V377fs PRCC_uc001fqb.2_Intron NM_005973 NP_005964 Q92733 PRCC_HUMAN papillary renal cell carcinoma 377 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) kidney(25)|central_nervous_system(2) 27 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CCGGCCCTGGTCCCCCCCCAGG 0.53 NA T TFE3 papillary renal 22 252 --- --- --- --- NA NA NA NA NA OR10Z1 128368 broad.mit.edu 37 1 158576486 158576487 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:158576486_158576487insG uc010pio.1 + 1 258_259 c.258_259insG c.(256-261)GCTGGGfs p.A86fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 86_87 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) CTGGCCTGGCTGGGGGGGACCA 0.554 NA 39 1371 --- --- --- --- NA NA NA NA NA OR10Z1 128368 broad.mit.edu 37 1 158577072 158577073 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:158577072_158577073insC uc010pio.1 + 1 844_845 c.844_845insC c.(844-846)ACCfs p.T282fs NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN olfactory receptor, family 10, subfamily Z, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1)|skin(1) 2 all_hematologic(112;0.0378) TACTGTAGTGACCCCCCTCCTT 0.46 NA 12 2020 --- --- --- --- NA NA NA NA NA KCNJ10 3766 broad.mit.edu 37 1 160012017 160012018 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:160012017_160012018insG uc001fuw.1 - 2 455_456 c.305_306insC c.(304-306)CCGfs p.P102fs NM_002241 NP_002232 P78508 IRK10_HUMAN potassium inwardly-rectifying channel, subfamily 102 Extracellular (By similarity). integral to plasma membrane ATP binding|ATP-activated inward rectifier potassium channel activity ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTGGTTGGCCGGGGGGTCCAG 0.584 GBM(167;1368 2014 14817 36425 43215) NA 7 535 --- --- --- --- NA NA NA NA NA VANGL2 57216 broad.mit.edu 37 1 160388801 160388802 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:160388801_160388802insG uc001fwb.1 + 5 501_502 c.202_203insG c.(202-204)TGGfs p.W68fs VANGL2_uc001fwc.1_Frame_Shift_Ins_p.W68fs NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 68 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) GGATGACAACTGGGGGGAAACG 0.406 NA 11 597 --- --- --- --- NA NA NA NA NA SLAMF1 6504 broad.mit.edu 37 1 160593935 160593936 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:160593935_160593936insC uc001fwl.3 - 4 1086_1087 c.740_741insG c.(739-741)GGTfs p.G247fs SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_Intron NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 247 Helical; (Potential).|Ig-like V-type. interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCATGATGACACCCCCTAACAG 0.391 NA 8 2330 --- --- --- --- NA NA NA NA NA ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:167865905_167865906insG uc001ger.2 - 7 964_965 c.666_667insC c.(664-669)CCCAATfs p.P222fs ADCY10_uc009wvk.2_Frame_Shift_Ins_p.P130fs|ADCY10_uc010plj.1_Frame_Shift_Ins_p.P69fs|ADCY10_uc009wvl.2_Frame_Shift_Ins_p.P221fs|ADCY10_uc009wvm.2_RNA NM_018417 NP_060887 Q96PN6 ADCYA_HUMAN adenylate cyclase 10 222_223 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding central_nervous_system(2)|ovary(1) 3 AAATTAAAATTGGGGGGTGGTT 0.332 NA 10 613 --- --- --- --- NA NA NA NA NA ABL2 27 broad.mit.edu 37 1 179078403 179078404 + Frame_Shift_Ins INS - - G rs138240636 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:179078403_179078404insG uc001gmj.3 - 12 2285_2286 c.1998_1999insC c.(1996-2001)CCCAAAfs p.P666fs ABL2_uc010pnf.1_Frame_Shift_Ins_p.P666fs|ABL2_uc010png.1_Frame_Shift_Ins_p.P645fs|ABL2_uc010pnh.1_Frame_Shift_Ins_p.P645fs|ABL2_uc001gmg.3_Frame_Shift_Ins_p.P651fs|ABL2_uc001gmi.3_Frame_Shift_Ins_p.P651fs|ABL2_uc001gmh.3_Frame_Shift_Ins_p.P630fs|ABL2_uc010pne.1_Frame_Shift_Ins_p.P630fs NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 666_667 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) CTGCTGCGTTTGGGGGGTGTAG 0.505 NA T ETV6 AML 7 461 --- --- --- --- NA NA NA NA NA FAM129A 116496 broad.mit.edu 37 1 184764537 184764538 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:184764537_184764538insC uc001gra.2 - 14 2554_2555 c.2360_2361insG c.(2359-2361)GGAfs p.G787fs FAM129A_uc001grb.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 787 Glu-rich. negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 CCTCTGGAAATCCCCCCAACTC 0.668 NA 8 542 --- --- --- --- NA NA NA NA NA KIF21B 23046 broad.mit.edu 37 1 200956270 200956271 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:200956270_200956271insG uc001gvs.1 - 25 3784_3785 c.3467_3468insC c.(3466-3468)CCAfs p.P1156fs KIF21B_uc001gvr.1_Frame_Shift_Ins_p.P1156fs|KIF21B_uc009wzl.1_Frame_Shift_Ins_p.P1156fs|KIF21B_uc010ppn.1_Frame_Shift_Ins_p.P1156fs NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1156 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 AGATATCCAGTGGGGGGCCCAG 0.559 NA 12 435 --- --- --- --- NA NA NA NA NA CACNA1S 779 broad.mit.edu 37 1 201035446 201035447 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:201035446_201035447insG uc001gvv.2 - 21 2885 c.2658_splice c.e21-1 p.E886_splice NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GCACTGGACCTGGGGGGCGGCA 0.644 NA 9 215 --- --- --- --- NA NA NA NA NA CACNA1S 779 broad.mit.edu 37 1 201046125 201046126 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:201046125_201046126insC uc001gvv.2 - 12 1976_1977 c.1749_1750insG c.(1747-1752)GGGAGGfs p.G583fs NM_000069 NP_000060 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, 583_584 II.|Extracellular (Potential). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity ovary(3)|central_nervous_system(1)|skin(1) 5 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTCATACCTCCCCCCAAAGA 0.441 NA 11 356 --- --- --- --- NA NA NA NA NA NAV1 89796 broad.mit.edu 37 1 201779175 201779176 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:201779175_201779176insC uc001gwu.2 + 22 4841_4842 c.4494_4495insC c.(4492-4497)GAGCCCfs p.E1498fs NAV1_uc001gwx.2_Frame_Shift_Ins_p.E1107fs NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 1501_1502 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 TGGATGCAGAGCCCCCCGAGAT 0.525 NA 7 451 --- --- --- --- NA NA NA NA NA ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:203667345_203667346insC uc001gzw.2 + 3 1138_1139 c.254_255insC c.(253-255)ATCfs p.I85fs ATP2B4_uc001gzv.2_Frame_Shift_Ins_p.I85fs|ATP2B4_uc009xaq.2_Frame_Shift_Ins_p.I85fs NM_001684 NP_001675 P23634 AT2B4_HUMAN plasma membrane calcium ATPase 4 isoform 4b 85 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|skin(1) 3 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.48 NA 7 276 --- --- --- --- NA NA NA NA NA TMEM81 388730 broad.mit.edu 37 1 205052693 205052694 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:205052693_205052694insC uc001hbt.2 - 1 895_896 c.755_756insG c.(754-756)GGCfs p.G252fs NM_203376 NP_976310 Q6P7N7 TMM81_HUMAN transmembrane protein 81 precursor 252 Cytoplasmic (Potential). integral to membrane 0 all_cancers(21;0.144)|Breast(84;0.0437) BRCA - Breast invasive adenocarcinoma(75;0.0923) ACTGCTGCAGGCCCCCCCTTAG 0.54 NA 11 414 --- --- --- --- NA NA NA NA NA CR2 1380 broad.mit.edu 37 1 207642043 207642044 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:207642043_207642044insC uc001hfw.2 + 3 711_712 c.617_618insC c.(616-618)GTCfs p.V206fs CR2_uc001hfv.2_Frame_Shift_Ins_p.V206fs|CR2_uc009xch.2_Frame_Shift_Ins_p.V206fs|CR2_uc009xci.1_5'Flank NM_001877 NP_001868 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) 206 Sushi 3.|Extracellular (Potential). complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity upper_aerodigestive_tract(3)|skin(3)|urinary_tract(1)|ovary(1) 8 TGGAGTGCTGTCCCCCCCACAT 0.396 NA 13 601 --- --- --- --- NA NA NA NA NA USH2A 7399 broad.mit.edu 37 1 215821895 215821896 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:215821895_215821896insG uc001hku.1 - 66 14943_14944 c.14556_14557insC c.(14554-14559)CCCATGfs p.P4852fs NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4852_4853 Extracellular (Potential).|Fibronectin type-III 34. 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) TTGGGGAACATGGGGGGACTCC 0.51 NA HNSCC(13;0.011) 8 692 --- --- --- --- NA NA NA NA NA RAB3GAP2 25782 broad.mit.edu 37 1 220406172 220406172 + Frame_Shift_Del DEL C C - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:220406172delC uc010puk.1 - 2 313 c.149delG c.(148-150)GGAfs p.G50fs RAB3GAP2_uc001hmf.2_RNA|RAB3GAP2_uc001hmg.2_5'UTR|RAB3GAP2_uc010pum.1_Frame_Shift_Del_p.G50fs NM_012414 NP_036546 Q9H2M9 RBGPR_HUMAN rab3 GTPase-activating protein, non-catalytic 50 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity central_nervous_system(1) 1 GBM - Glioblastoma multiforme(131;0.0443) TTCCCATGCTCCCCAACCATC 0.328 NA 66 177 --- --- --- --- NA NA NA NA NA MIXL1 83881 broad.mit.edu 37 1 226413314 226413314 + Frame_Shift_Del DEL A A - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:226413314delA uc010pvm.1 + 2 500 c.500delA c.(499-501)GAAfs p.E167fs NM_031944 NP_114150 Q9H2W2 MIXL1_HUMAN Mix-like homeobox protein 1 167 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(184;0.158) GBM - Glioblastoma multiforme(131;0.109) CCTGGAACTGAAACGAAATGT 0.552 Pancreas(72;1302 1881 20981 22800) NA 21 82 --- --- --- --- NA NA NA NA NA TARBP1 6894 broad.mit.edu 37 1 234556531 234556532 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:234556531_234556532insT uc001hwd.2 - 21 3471_3472 c.3471_3472insA c.(3469-3474)AAACGCfs p.K1157fs NM_005646 NP_005637 Q13395 TARB1_HUMAN TAR RNA binding protein 1 1157_1158 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity ovary(2)|skin(1) 3 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) ACATAGTAGCGTTTTTTGGACT 0.366 NA 7 907 --- --- --- --- NA NA NA NA NA VN1R5 317705 broad.mit.edu 37 1 247419937 247419938 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr1:247419937_247419938insC uc010pyu.1 + 2 564_565 c.564_565insC c.(562-567)CTACCCfs p.L188fs NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN vomeronasal 1 receptor 5 188_189 Cytoplasmic (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CACTGCGGCTACCCCCAGTGAA 0.46 GBM(98;63 1399 4825 21305 33017) NA 7 1319 --- --- --- --- NA NA NA NA NA CUBN 8029 broad.mit.edu 37 10 16877089 16877090 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:16877089_16877090insG uc001ioo.2 - 64 10337_10338 c.10285_10286insC c.(10285-10287)CAGfs p.Q3429fs NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3429 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGTGTGGTTCTGGGGGGCTGTG 0.45 NA 10 536 --- --- --- --- NA NA NA NA NA PIP4K2A 5305 broad.mit.edu 37 10 22830827 22830828 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:22830827_22830828insG uc001irl.3 - 8 1189_1190 c.941_942insC c.(940-942)CCAfs p.P314fs PIP4K2A_uc010qcu.1_Frame_Shift_Ins_p.P174fs NM_005028 NP_005019 P48426 PI42A_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type 314 PIPK. 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding ovary(1)|skin(1) 2 CGGGGCTATCTGGGGGGGTTCC 0.584 NA 7 133 --- --- --- --- NA NA NA NA NA ANKRD26 22852 broad.mit.edu 37 10 27322258 27322259 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:27322258_27322259insT uc001ith.2 - 25 3871_3872 c.3699_3700insA c.(3697-3702)AAACAAfs p.K1233fs ANKRD26_uc001itg.2_Frame_Shift_Ins_p.K920fs|ANKRD26_uc009xku.1_Frame_Shift_Ins_p.K1234fs NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 1233_1234 Potential. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 GACATAGATTGTTTTTTTAGGG 0.312 NA 7 749 --- --- --- --- NA NA NA NA NA ZNF248 57209 broad.mit.edu 37 10 38121236 38121237 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:38121236_38121237insC uc001izd.1 - 6 1545_1546 c.1046_1047insG c.(1045-1047)GGAfs p.G349fs ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Frame_Shift_Ins_p.G349fs NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN zinc finger protein 248 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CATAAGACTTTCCCCCCATGTG 0.401 NA 7 569 --- --- --- --- NA NA NA NA NA FAM21B 55747 broad.mit.edu 37 10 47909192 47909193 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:47909192_47909193insC uc009xni.2 + 10 762_763 c.762_763insC c.(760-765)ACACCCfs p.T254fs FAM21B_uc001jep.3_Frame_Shift_Ins_p.T149fs NM_018232 NP_060702 Q5SNT6 FA21B_HUMAN hypothetical protein LOC55747 254_255 retrograde transport, endosome to Golgi early endosome membrane|WASH complex ovary(1) 1 ACTTATTCACACCCCCCAAGCT 0.515 NA 18 308 --- --- --- --- NA NA NA NA NA CSTF2T 23283 broad.mit.edu 37 10 53458899 53458900 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:53458899_53458900insG uc001jjp.2 - 1 456_457 c.410_411insC c.(409-411)CCGfs p.P137fs PRKG1_uc001jjm.2_Intron|PRKG1_uc001jjn.2_Intron|PRKG1_uc001jjo.2_Intron NM_015235 NP_056050 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 137 mRNA processing nucleus nucleotide binding|RNA binding ovary(1) 1 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) ACATCTGCTCCGGGGGGAGACT 0.515 NA 8 150 --- --- --- --- NA NA NA NA NA RHOBTB1 9886 broad.mit.edu 37 10 62645896 62645897 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:62645896_62645897insC uc001jli.2 - 8 1986_1987 c.1548_1549insG c.(1546-1551)GGGTCAfs p.G516fs RHOBTB1_uc001jlh.2_Frame_Shift_Ins_p.G516fs|RHOBTB1_uc001jlj.2_Frame_Shift_Ins_p.G516fs|RHOBTB1_uc001jlk.2_Frame_Shift_Ins_p.G516fs|RHOBTB1_uc009xpe.1_Frame_Shift_Ins_p.G454fs|RHOBTB1_uc001jll.2_Frame_Shift_Ins_p.G266fs NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 516_517 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) TCCACAAATGACCCCCCGAACA 0.48 NA 8 595 --- --- --- --- NA NA NA NA NA SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:75525559_75525560insC uc001juw.2 + 11 1547_1548 c.1368_1369insC c.(1366-1371)GTTCCCfs p.V456fs SEC24C_uc010qkn.1_Intron|SEC24C_uc009xrj.1_Frame_Shift_Ins_p.V314fs|SEC24C_uc001jux.2_Frame_Shift_Ins_p.V456fs|SEC24C_uc010qko.1_Frame_Shift_Ins_p.V337fs|SEC24C_uc010qkp.1_Intron|SEC24C_uc010qkq.1_Intron NM_004922 NP_004913 P53992 SC24C_HUMAN SEC24-related protein C 456_457 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding skin(2)|central_nervous_system(1) 3 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.51 NA 17 472 --- --- --- --- NA NA NA NA NA MYST4 23522 broad.mit.edu 37 10 76790222 76790223 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:76790222_76790223insC uc001jwn.1 + 18 6133_6134 c.5640_5641insC c.(5638-5643)CCACCCfs p.P1880fs MYST4_uc001jwo.1_Frame_Shift_Ins_p.P1588fs|MYST4_uc001jwp.1_Frame_Shift_Ins_p.P1697fs NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 1880_1881 Interaction with RUNX1 and RUNX2. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) CCATGACCCCACCCCCCAACCT 0.535 NA T CREBBP AML 21 344 --- --- --- --- NA NA NA NA NA ZMIZ1 57178 broad.mit.edu 37 10 81072445 81072446 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:81072445_81072446insC uc001kaf.2 + 25 3715_3716 c.3143_3144insC c.(3142-3144)GACfs p.D1048fs ZMIZ1_uc001kag.2_Frame_Shift_Ins_p.D924fs|ZMIZ1_uc010qlq.1_Frame_Shift_Ins_p.D114fs NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 1048 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) TCTTATCTGGACCCCCCCGACC 0.559 NA 9 145 --- --- --- --- NA NA NA NA NA HECTD2 143279 broad.mit.edu 37 10 93272060 93272061 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:93272060_93272061insC uc001khl.2 + 21 2350_2351 c.2250_2251insC c.(2248-2253)CTTCCCfs p.L750fs LOC100188947_uc010qnl.1_Intron|HECTD2_uc010qnm.1_Frame_Shift_Ins_p.L754fs|HECTD2_uc001khm.2_RNA|HECTD2_uc009xty.1_Frame_Shift_Ins_p.L339fs|HECTD2_uc001khn.1_Frame_Shift_Ins_p.L400fs NM_182765 NP_877497 Q5U5R9 HECD2_HUMAN HECT domain containing 2 isoform a 750_751 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity skin(1) 1 AACTTTGCCTTCCCCCCTACAA 0.356 NSCLC(12;376 469 1699 39910 41417) NA 12 905 --- --- --- --- NA NA NA NA NA MYOF 26509 broad.mit.edu 37 10 95169434 95169435 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:95169434_95169435insC uc001kin.2 - 6 618_619 c.495_496insG c.(493-498)GGGCCCfs p.G165fs MYOF_uc001kio.2_Frame_Shift_Ins_p.G165fs|MYOF_uc001kip.3_Frame_Shift_Ins_p.G165fs|MYOF_uc009xuf.2_Frame_Shift_Ins_p.G147fs NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 165_166 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GGCCCCTTGGGCCCAGGGCCCC 0.535 NA 68 1054 --- --- --- --- NA NA NA NA NA TLL2 7093 broad.mit.edu 37 10 98164994 98164995 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:98164994_98164995insG uc001kml.1 - 10 1487_1488 c.1261_1262insC c.(1261-1263)CTTfs p.L421fs TLL2_uc009xvf.1_Frame_Shift_Ins_p.L399fs NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 421 CUB 1. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) CTTACCCAAAAGGGGGGCTTTT 0.48 NA 11 792 --- --- --- --- NA NA NA NA NA TLL2 7093 broad.mit.edu 37 10 98188503 98188504 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:98188503_98188504insC uc001kml.1 - 5 748_749 c.522_523insG c.(520-525)GGGAGCfs p.G174fs TLL2_uc009xvf.1_Frame_Shift_Ins_p.G122fs NM_012465 NP_036597 Q9Y6L7 TLL2_HUMAN tolloid-like 2 precursor 174_175 Metalloprotease (By similarity). cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) GCCCTCTGGCTCCCTGAAACAA 0.371 NA 19 93 --- --- --- --- NA NA NA NA NA TM9SF3 56889 broad.mit.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:98336475delT uc001kmm.3 - 2 431 c.214delA c.(214-216)AGTfs p.S72fs TM9SF3_uc010qot.1_Frame_Shift_Del_p.S72fs NM_020123 NP_064508 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 precursor 72 integral to membrane binding 0 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) TGACTGATACTTTTTTTTGAC 0.363 NA 7 376 --- --- --- --- NA NA NA NA NA CUTC 51076 broad.mit.edu 37 10 101499503 101499504 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:101499503_101499504insG uc001kqd.3 + 3 318_319 c.170_171insG c.(169-171)GAGfs p.E57fs CUTC_uc010qpk.1_Frame_Shift_Ins_p.E57fs|CUTC_uc001kqe.3_RNA NM_015960 NP_057044 Q9NTM9 CUTC_HUMAN cutC copper transporter homolog 57 copper ion homeostasis|copper ion transport|protein tetramerization cytoplasm|nucleus copper ion binding breast(1) 1 Colorectal(252;0.234) Epithelial(162;3e-10)|all cancers(201;2.37e-08) GGTTTATCAGAGGGGGGAACTA 0.401 NA 9 501 --- --- --- --- NA NA NA NA NA CPN1 1369 broad.mit.edu 37 10 101816832 101816833 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:101816832_101816833insG uc001kql.2 - 6 1208_1209 c.948_949insC c.(946-951)CCCGAAfs p.P316fs NM_001308 NP_001299 P15169 CBPN_HUMAN carboxypeptidase N, polypeptide 1 precursor 316_317 Catalytic. proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding central_nervous_system(3)|pancreas(1) 4 Colorectal(252;0.234) Epithelial(162;4.77e-10)|all cancers(201;3.82e-08) AACTCCTCTTCGGGGGGAAACT 0.47 NA 10 715 --- --- --- --- NA NA NA NA NA TRUB1 142940 broad.mit.edu 37 10 116730191 116730192 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr10:116730191_116730192insC uc001lcd.2 + 5 649_650 c.588_589insC c.(586-591)GTGCCCfs p.V196fs TRUB1_uc010qsl.1_Frame_Shift_Ins_p.V98fs NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN TruB pseudouridine (psi) synthase homolog 1 196_197 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding 0 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) TAATGCAAGTGCCCCCCCTGTA 0.317 NA 9 292 --- --- --- --- NA NA NA NA NA OR52B6 340980 broad.mit.edu 37 11 5602545 5602546 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:5602545_5602546insC uc010qzi.1 + 1 439_440 c.439_440insC c.(439-441)TCCfs p.S147fs HBG2_uc001mak.1_Intron NM_001005162 NP_001005162 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, 147 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATCTGCTCCCCCCTGCGA 0.51 NA 9 953 --- --- --- --- NA NA NA NA NA DCHS1 8642 broad.mit.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G rs143767864 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:6662141_6662142insG uc001mem.1 - 2 1113_1114 c.703_704insC c.(703-705)CGGfs p.R235fs NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 235 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGGCCCTCCGGGGGGGTGAA 0.589 NA 8 123 --- --- --- --- NA NA NA NA NA PSMA1 5682 broad.mit.edu 37 11 14529252 14529254 + In_Frame_Del DEL CAT CAT - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CAT CAT - - CAT CAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:14529252_14529254delCAT uc001mlk.2 - 9 829_831 c.683_685delATG c.(682-687)GATGTG>GTG p.D228del PSMA1_uc001mll.2_In_Frame_Del_p.D234del|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_In_Frame_Del_p.D203del NM_002786 NP_002777 P25786 PSA1_HUMAN proteasome alpha 1 subunit isoform 2 228 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex protein binding|RNA binding|threonine-type endopeptidase activity upper_aerodigestive_tract(1)|skin(1) 2 AATGGAGACACATCATCATCATC 0.36 NA 7 518 --- --- --- --- NA NA NA NA NA PLEKHA7 144100 broad.mit.edu 37 11 16822524 16822525 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:16822524_16822525insA uc001mmo.2 - 17 2420_2421 c.2405_2406insT c.(2404-2406)TTCfs p.F802fs PLEKHA7_uc010rcu.1_Frame_Shift_Ins_p.F802fs|PLEKHA7_uc010rcv.1_Frame_Shift_Ins_p.F376fs|PLEKHA7_uc001mmn.2_Frame_Shift_Ins_p.F510fs NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 802 epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 AGGTCACCTGGAAAAAAAAGGC 0.426 NA 10 464 --- --- --- --- NA NA NA NA NA APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:34904908_34904909insC uc001mvs.2 - 6 712_713 c.604_605insG c.(604-606)GAAfs p.E202fs APIP_uc010reo.1_Frame_Shift_Ins_p.E219fs NM_015957 NP_057041 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity 0 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.45 NA 8 621 --- --- --- --- NA NA NA NA NA SLC1A2 6506 broad.mit.edu 37 11 35313880 35313881 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:35313880_35313881insA uc001mwd.2 - 7 1636_1637 c.1044_1045insT c.(1042-1047)TTTGCTfs p.F348fs SLC1A2_uc001mwe.2_Frame_Shift_Ins_p.F339fs|SLC1A2_uc010rev.1_Frame_Shift_Ins_p.F348fs NM_004171 NP_004162 P43004 EAA2_HUMAN excitatory amino acid transporter 2 348_349 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|central_nervous_system(1) 3 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) AAAATGCCAGCAAAAAAGGAGA 0.47 NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454) NA 7 980 --- --- --- --- NA NA NA NA NA PAMR1 25891 broad.mit.edu 37 11 35513669 35513670 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:35513669_35513670insC uc001mwg.2 - 3 345_346 c.302_303insG c.(301-303)GGTfs p.G101fs PAMR1_uc001mwf.2_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rew.1_Frame_Shift_Ins_p.G101fs|PAMR1_uc010rex.1_Frame_Shift_Ins_p.G61fs NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 101 proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CATCCAAGGTACCCCCCCATGA 0.52 NA 30 1074 --- --- --- --- NA NA NA NA NA FNBP4 23360 broad.mit.edu 37 11 47776187 47776187 + Frame_Shift_Del DEL C C - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:47776187delC uc009ylv.2 - 3 496 c.343delG c.(343-345)GACfs p.D115fs FNBP4_uc001ngj.2_Frame_Shift_Del_p.D22fs|FNBP4_uc001ngl.2_Intron NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN formin binding protein 4 115 ovary(1) 1 TCATCACTGTCAGCATAAGCA 0.383 NA 103 298 --- --- --- --- NA NA NA NA NA SLC43A3 29015 broad.mit.edu 37 11 57185234 57185235 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:57185234_57185235insG uc001nkg.2 - 8 1067_1068 c.657_658insC c.(655-660)CCCAACfs p.P219fs PRG2_uc001nke.2_Frame_Shift_Ins_p.P118fs|SLC43A3_uc001nkh.2_Frame_Shift_Ins_p.P219fs|SLC43A3_uc010rjr.1_Frame_Shift_Ins_p.P232fs|SLC43A3_uc009yme.2_Frame_Shift_Ins_p.P219fs|SLC43A3_uc001nki.2_Frame_Shift_Ins_p.P219fs|SLC43A3_uc009ymf.1_Frame_Shift_Ins_p.P219fs|SLC43A3_uc010rjs.1_Frame_Shift_Ins_p.P219fs|SLC43A3_uc009ymg.1_Frame_Shift_Ins_p.P232fs NM_014096 NP_054815 Q8NBI5 S43A3_HUMAN solute carrier family 43, member 3 219_220 transmembrane transport integral to membrane central_nervous_system(1) 1 TAGCTGTAGTTGGGGGGCAGTG 0.564 NA 9 230 --- --- --- --- NA NA NA NA NA OR4D10 390197 broad.mit.edu 37 11 59245351 59245352 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:59245351_59245352insG uc001nnz.1 + 1 449_450 c.449_450insG c.(448-450)TTGfs p.L150fs NM_001004705 NP_001004705 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GCTGCCTGGTTGGGGGGCTTTG 0.54 NA 7 268 --- --- --- --- NA NA NA NA NA CPSF7 79869 broad.mit.edu 37 11 61183884 61183885 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:61183884_61183885insG uc001nrq.2 - 6 791_792 c.657_658insC c.(655-660)CCCAGTfs p.P219fs CPSF7_uc001nro.2_Frame_Shift_Ins_p.P210fs|CPSF7_uc001nrp.2_Frame_Shift_Ins_p.P262fs|CPSF7_uc001nrr.2_Frame_Shift_Ins_p.P210fs|CPSF7_uc001nrs.1_Frame_Shift_Ins_p.P120fs NM_001136040 NP_001129512 Q8N684 CPSF7_HUMAN pre-mRNA cleavage factor I, 59 kDa subunit 219_220 Pro-rich. mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription mRNA cleavage factor complex nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 GGCAGCACACTGGGGGGCTTAT 0.594 NA 8 468 --- --- --- --- NA NA NA NA NA PPFIA1 8500 broad.mit.edu 37 11 70194406 70194407 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:70194406_70194407insC uc001opo.2 + 16 2241_2242 c.2043_2044insC c.(2041-2046)ATTCCCfs p.I681fs PPFIA1_uc001opn.1_Frame_Shift_Ins_p.I681fs|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 681_682 cell-matrix adhesion cytoplasm protein binding|signal transducer activity lung(2)|ovary(1) 3 BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513) TGAGCTCCATTCCCCCCTACCC 0.554 NA 7 470 --- --- --- --- NA NA NA NA NA MYO7A 4647 broad.mit.edu 37 11 76873960 76873961 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:76873960_76873961insC uc001oyb.2 + 14 1888_1889 c.1616_1617insC c.(1615-1617)ATCfs p.I539fs MYO7A_uc010rsl.1_Frame_Shift_Ins_p.I539fs|MYO7A_uc010rsm.1_Frame_Shift_Ins_p.I528fs|MYO7A_uc001oyc.2_Frame_Shift_Ins_p.I539fs NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 539 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 GCCAACTACATCCCCCCCAAGA 0.564 NA 9 232 --- --- --- --- NA NA NA NA NA GRM5 2915 broad.mit.edu 37 11 88258517 88258518 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:88258517_88258518insG uc001pcq.2 - 8 2885_2886 c.2685_2686insC c.(2683-2688)CCCAAAfs p.P895fs GRM5_uc009yvm.2_Intron NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 895_896 Cytoplasmic (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) ATACTCCCTTTGGGGGTGAAAC 0.485 NA 11 1067 --- --- --- --- NA NA NA NA NA RDX 5962 broad.mit.edu 37 11 110104136 110104137 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:110104136_110104137insG uc001pku.2 - 13 1722_1723 c.1412_1413insC c.(1411-1413)CCTfs p.P471fs RDX_uc009yxx.1_RNA|RDX_uc009yxy.2_Frame_Shift_Ins_p.P471fs|RDX_uc009yxz.2_Frame_Shift_Ins_p.P124fs|RDX_uc009yya.2_Intron|RDX_uc001pks.2_Frame_Shift_Ins_p.P5fs|RDX_uc001pkt.2_Frame_Shift_Ins_p.P125fs|RDX_uc010rwe.1_Frame_Shift_Ins_p.P335fs NM_002906 NP_002897 P35241 RADI_HUMAN radixin 471 Poly-Pro.|Glu-rich. actin filament capping cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane actin binding 0 all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248) GTGGAGGTGGAGGGGGGGCAGA 0.431 Esophageal Squamous(55;25 1062 11040 28755 44273) NA 20 677 --- --- --- --- NA NA NA NA NA NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:113076860_113076861insG uc009yyq.1 + 5 926_927 c.232_233insG c.(232-234)CGGfs p.R78fs NCAM1_uc001pno.2_Frame_Shift_Ins_p.R78fs NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 196 Ig-like C2-type 2.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 NA 20 1557 --- --- --- --- NA NA NA NA NA SIK3 23387 broad.mit.edu 37 11 116733010 116733011 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:116733010_116733011insC uc001ppy.2 - 16 1854_1855 c.1818_1819insG c.(1816-1821)GGGCAGfs p.G606fs SIK3_uc001ppz.2_Frame_Shift_Ins_p.G505fs|SIK3_uc001pqa.2_Frame_Shift_Ins_p.G606fs|SIK3_uc001ppw.2_Frame_Shift_Ins_p.G23fs|SIK3_uc001ppx.2_Frame_Shift_Ins_p.G81fs|SIK3_uc001pqb.2_5'Flank NM_025164 NP_079440 Q9Y2K2 SIK3_HUMAN serine/threonine-protein kinase QSK 606_607 Gln-rich. cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1) 12 TCATCAATCTGCCCCCCGTACA 0.5 NA 8 452 --- --- --- --- NA NA NA NA NA DSCAML1 57453 broad.mit.edu 37 11 117321331 117321332 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:117321331_117321332insG uc001prh.1 - 20 3823_3824 c.3821_3822insC c.(3820-3822)CCTfs p.P1274fs NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1214 Extracellular (Potential).|Fibronectin type-III 4. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TGGGCTTGGTAGGGGGGAGCCA 0.589 NA 10 385 --- --- --- --- NA NA NA NA NA CCDC153 283152 broad.mit.edu 37 11 119061042 119061043 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:119061042_119061043insG uc010rze.1 - 7 687_688 c.599_600insC c.(598-600)CCTfs p.P200fs NM_001145018 NP_001138490 Q494R4 CC153_HUMAN coiled-coil domain containing 153 200 0 TCAAAGATCCAGGGGGGGTGAG 0.569 NA 12 224 --- --- --- --- NA NA NA NA NA JAM3 83700 broad.mit.edu 37 11 134018467 134018468 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr11:134018467_134018468insG uc001qhb.1 + 7 897_898 c.873_874insG c.(871-876)ATTGGGfs p.I291fs JAM3_uc009zcz.1_Frame_Shift_Ins_p.I240fs NM_032801 NP_116190 Q9BX67 JAM3_HUMAN junctional adhesion molecule 3 precursor 246_247 Helical; (Potential). angiogenesis|blood coagulation|regulation of neutrophil chemotaxis cell-cell contact zone|desmosome|extracellular space|integral to membrane integrin binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566) Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245) GCGGAATTATTGGGGGGGTTCT 0.485 NA 12 337 --- --- --- --- NA NA NA NA NA KDM5A 5927 broad.mit.edu 37 12 442810 442811 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:442810_442811insC uc001qif.1 - 12 1858_1859 c.1495_1496insG c.(1495-1497)GAGfs p.E499fs KDM5A_uc001qie.1_Frame_Shift_Ins_p.E499fs|KDM5A_uc010sdn.1_Frame_Shift_Ins_p.E458fs|KDM5A_uc010sdo.1_Frame_Shift_Ins_p.E118fs NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 499 JmjC. chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 TGTCTTTGGCTCCCCCCTAGCA 0.307 NA T NUP98 AML 7 565 --- --- --- --- NA NA NA NA NA VWF 7450 broad.mit.edu 37 12 6091108 6091109 + Frame_Shift_Ins INS - - G rs61750632 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:6091108_6091109insG uc001qnn.1 - 42 7380_7381 c.7130_7131insC c.(7129-7131)CCGfs p.P2377fs VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN von Willebrand factor preproprotein 2377 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1) 12 Antihemophilic Factor(DB00025) GCAAACGGTGCGGGGGGCAGGA 0.604 NA 7 194 --- --- --- --- NA NA NA NA NA CLSTN3 9746 broad.mit.edu 37 12 7288059 7288060 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:7288059_7288060insC uc001qsr.2 + 4 798_799 c.520_521insC c.(520-522)TCCfs p.S174fs CLSTN3_uc001qss.2_Frame_Shift_Ins_p.S186fs NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 174 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CGGTGACTGCTCCCCCCAGTAC 0.574 NA 7 880 --- --- --- --- NA NA NA NA NA A2ML1 144568 broad.mit.edu 37 12 9001442 9001443 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:9001442_9001443insC uc001quz.3 + 16 2058_2059 c.1960_1961insC c.(1960-1962)TCGfs p.S654fs A2ML1_uc001qva.1_Frame_Shift_Ins_p.S234fs|A2ML1_uc010sgm.1_Frame_Shift_Ins_p.S154fs NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 498 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 CCAAGGGCATTCGAGCCAGCGT 0.525 NA 7 1893 --- --- --- --- NA NA NA NA NA GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:14019043_14019044insG uc001rbt.2 - 2 278_279 c.99_100insC c.(97-102)CCCAGCfs p.P33fs NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 33_34 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 NA 9 176 --- --- --- --- NA NA NA NA NA RERG 85004 broad.mit.edu 37 12 15262411 15262412 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:15262411_15262412insC uc001rcs.2 - 4 372_373 c.232_233insG c.(232-234)GAAfs p.E78fs RERG_uc001rct.2_Frame_Shift_Ins_p.E78fs|RERG_uc010shu.1_Frame_Shift_Ins_p.E59fs NM_032918 NP_116307 Q96A58 RERG_HUMAN RAS-like, estrogen-regulated, growth inhibitor 78 negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction cytosol|membrane|nucleus estrogen receptor binding|GDP binding|GTP binding|GTPase activity lung(1) 1 CACAAAGCCTTCCCCCCATCGC 0.46 NA 8 1090 --- --- --- --- NA NA NA NA NA C12orf10 60314 broad.mit.edu 37 12 53693998 53693999 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:53693998_53693999insG uc001scp.3 + 2 333_334 c.281_282insG c.(280-282)GTGfs p.V94fs C12orf10_uc010sof.1_Frame_Shift_Ins_p.V94fs|C12orf10_uc009zmx.2_Frame_Shift_Ins_p.V94fs|C12orf10_uc001scq.3_5'UTR NM_021640 NP_067653 Q86UA3 Q86UA3_HUMAN MYG1 protein precursor 94 ovary(2) 2 GTGGTGGACGTGGGGGGCGAGT 0.559 NA OREG0021864 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 151 --- --- --- --- NA NA NA NA NA AAAS 8086 broad.mit.edu 37 12 53715141 53715142 + Frame_Shift_Ins INS - - G rs138043864 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:53715141_53715142insG uc001scr.3 - 1 271_272 c.108_109insC c.(106-111)CCCGACfs p.P36fs AAAS_uc001scs.3_Frame_Shift_Ins_p.P36fs NM_015665 NP_056480 Q9NRG9 AAAS_HUMAN achalasia, adrenocortical insufficiency, 36_37 carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction nuclear pore ovary(1) 1 CCCCGGAAGTCGGGGGGCGGGC 0.653 NA 8 76 --- --- --- --- NA NA NA NA NA PDE1B 5153 broad.mit.edu 37 12 54971059 54971060 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:54971059_54971060insC uc001sgd.1 + 15 1724_1725 c.1558_1559insC c.(1558-1560)GCCfs p.A520fs PDE1B_uc010soz.1_Frame_Shift_Ins_p.A383fs|PDE1B_uc010spa.1_Frame_Shift_Ins_p.A479fs|PDE1B_uc001sgf.2_Frame_Shift_Ins_p.A383fs|PDE1B_uc001sge.2_Frame_Shift_Ins_p.A500fs|PDE1B_uc009znq.2_Frame_Shift_Ins_p.A316fs NM_000924 NP_000915 Q01064 PDE1B_HUMAN phosphodiesterase 1B isoform 1 520 activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding upper_aerodigestive_tract(1)|ovary(1) 2 TGAAGAAGAGGCCCCCCCATCC 0.559 NA 14 336 --- --- --- --- NA NA NA NA NA DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:56347513_56347514insC uc001sij.2 + 24 2433_2434 c.2169_2170insC c.(2167-2172)CCACCCfs p.P723fs DGKA_uc001sik.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sil.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sim.2_Frame_Shift_Ins_p.P723fs|DGKA_uc001sin.2_Frame_Shift_Ins_p.P723fs|DGKA_uc009zof.2_Frame_Shift_Ins_p.P369fs|DGKA_uc001sio.2_Frame_Shift_Ins_p.P465fs NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723_724 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 NA 10 340 --- --- --- --- NA NA NA NA NA GLI1 2735 broad.mit.edu 37 12 57860074 57860075 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:57860074_57860075insG uc001snx.2 + 8 892_893 c.814_815insG c.(814-816)TGGfs p.W272fs GLI1_uc009zpq.2_Frame_Shift_Ins_p.W144fs NM_005269 NP_005260 P08151 GLI1_HUMAN GLI family zinc finger 1 isoform 1 272 C2H2-type 2. epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1) 15 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTGC 0.599 Pancreas(157;841 1936 10503 41495 50368) NA 16 335 --- --- --- --- NA NA NA NA NA LRIG3 121227 broad.mit.edu 37 12 59282620 59282621 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:59282620_59282621insC uc001sqr.2 - 6 1029_1030 c.783_784insG c.(781-786)GGGCTGfs p.G261fs LRIG3_uc009zqh.2_Frame_Shift_Ins_p.G201fs|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 261_262 integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) ATGTTGCTCAGCCCCCAAAAAG 0.411 NA 7 370 --- --- --- --- NA NA NA NA NA MDM2 4193 broad.mit.edu 37 12 69233089 69233090 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:69233089_69233090insC uc001sui.2 + 11 1241_1242 c.954_955insC c.(952-957)AATCCCfs p.N318fs MDM2_uc009zri.2_Frame_Shift_Ins_p.N273fs|MDM2_uc009zqx.2_Frame_Shift_Ins_p.N263fs|MDM2_uc009zqw.2_Intron|MDM2_uc001suk.2_Intron|MDM2_uc001sun.3_Frame_Shift_Ins_p.N137fs|MDM2_uc009zqz.2_Frame_Shift_Ins_p.N265fs|MDM2_uc009zra.2_Frame_Shift_Ins_p.N116fs|MDM2_uc001sum.1_Intron|MDM2_uc009zrd.2_Frame_Shift_Ins_p.N2fs|MDM2_uc009zrc.2_Frame_Shift_Ins_p.N2fs|MDM2_uc009zre.2_Frame_Shift_Ins_p.N59fs|MDM2_uc009zrf.2_Frame_Shift_Ins_p.N2fs|MDM2_uc001suo.2_Frame_Shift_Ins_p.N112fs|MDM2_uc009zrg.2_Frame_Shift_Ins_p.N34fs|MDM2_uc009zrh.2_Frame_Shift_Ins_p.N86fs NM_002392 NP_002383 Q00987 MDM2_HUMAN mouse double minute 2 homolog isoform MDM2 312_313 RanBP2-type.|Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|central_nervous_system(1) 3 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) ATGAAATGAATCCCCCCCTTCC 0.426 NA A sarcoma|glioma|colorectal|other 15 520 --- --- --- --- NA NA NA NA NA NAV3 89795 broad.mit.edu 37 12 78400511 78400512 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:78400511_78400512insC uc001syp.2 + 8 1366_1367 c.1193_1194insC c.(1192-1194)CGCfs p.R398fs NAV3_uc001syo.2_Frame_Shift_Ins_p.R398fs NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 398 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACTGCTTTACGCCCCCCGCAGC 0.495 NA HNSCC(70;0.22) 11 339 --- --- --- --- NA NA NA NA NA PPFIA2 8499 broad.mit.edu 37 12 81741386 81741387 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:81741386_81741387insG uc001szo.1 - 18 2318_2319 c.2157_2158insC c.(2155-2160)CCCAGTfs p.P719fs PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_Intron NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 645_646 ovary(3)|lung(2)|pancreas(1) 6 GAGTGTCCACTGGGGGGAGATG 0.55 NA 16 472 --- --- --- --- NA NA NA NA NA UHRF1BP1L 23074 broad.mit.edu 37 12 100451839 100451840 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:100451839_100451840insG uc001tgq.2 - 14 3444_3445 c.3215_3216insC c.(3214-3216)CCAfs p.P1072fs UHRF1BP1L_uc001tgp.2_Frame_Shift_Ins_p.P722fs NM_015054 NP_055869 A0JNW5 UH1BL_HUMAN UHRF1 (ICBP90) binding protein 1-like isoform a 1072 ovary(2) 2 GTGTTCTAACTGGGGGGGTCTC 0.371 NA 12 408 --- --- --- --- NA NA NA NA NA STAB2 55576 broad.mit.edu 37 12 104126791 104126792 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:104126791_104126792insT uc001tjw.2 + 51 5477_5478 c.5291_5292insT c.(5290-5292)GGTfs p.G1764fs STAB2_uc009zug.2_RNA NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN stabilin 2 precursor 1764 Extracellular (Potential).|FAS1 6. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity ovary(9)|skin(5) 14 CAGGACTCAGGTTTGCTGAGTG 0.569 NA 154 263 --- --- --- --- NA NA NA NA NA SLC24A6 80024 broad.mit.edu 37 12 113758305 113758306 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:113758305_113758306insG uc001tvc.2 - 7 737 c.527_splice c.e7-1 p.G176_splice SLC24A6_uc001tuz.2_5'Flank|SLC24A6_uc001tva.2_Splice_Site|SLC24A6_uc001tvb.2_Intron NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN solute carrier family 24 member 6 precursor response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity central_nervous_system(1) 1 CGCCAGCGCCTGGGGGGAGGAG 0.644 NA 7 530 --- --- --- --- NA NA NA NA NA KSR2 283455 broad.mit.edu 37 12 117977604 117977605 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:117977604_117977605insG uc001two.2 - 10 1574_1575 c.1519_1520insC c.(1519-1521)CTCfs p.L507fs NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTAGGAGGGAGGGGGGGTGCT 0.634 NA 9 135 --- --- --- --- NA NA NA NA NA MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:120800902_120800903insC uc001tye.1 - 6 409_410 c.345_346insG c.(343-348)GGGCTGfs p.G115fs NM_002442 NP_002433 O43347 MSI1H_HUMAN musashi 1 115_116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding central_nervous_system(2)|breast(1) 3 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 NA 7 117 --- --- --- --- NA NA NA NA NA POLE 5426 broad.mit.edu 37 12 133245023 133245024 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr12:133245023_133245024insG uc001uks.1 - 19 2135_2136 c.2091_2092insC c.(2089-2094)CCCTTGfs p.P697fs POLE_uc010tbq.1_RNA|POLE_uc009zyu.1_Frame_Shift_Ins_p.P670fs NM_006231 NP_006222 Q07864 DPOE1_HUMAN DNA-directed DNA polymerase epsilon 697_698 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding ovary(3)|skin(3)|lung(1)|central_nervous_system(1) 8 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TCTGGGAACAAGGGGGGGAACT 0.599 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 8 140 --- --- --- --- NA NA NA NA NA KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:41705321_41705322insC uc001uxu.1 - 1 1615_1616 c.1326_1327insG c.(1324-1329)GGGCGAfs p.G442fs KBTBD6_uc010ace.1_Intron|KBTBD6_uc010tfe.1_Frame_Shift_Ins_p.G376fs|uc001uxv.1_5'Flank NM_152903 NP_690867 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain-containing 6 442_443 Kelch 2. protein binding ovary(1)|skin(1) 2 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.47 NA 21 377 --- --- --- --- NA NA NA NA NA MBNL2 10150 broad.mit.edu 37 13 97928603 97928604 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr13:97928603_97928604insC uc010aft.2 + 2 930_931 c.114_115insC c.(112-117)CATCCCfs p.H38fs MBNL2_uc001vmz.2_Frame_Shift_Ins_p.H38fs|MBNL2_uc001vna.2_Frame_Shift_Ins_p.H38fs|MBNL2_uc001vnb.2_RNA|MBNL2_uc010tij.1_Frame_Shift_Ins_p.H38fs NM_144778 NP_659002 Q5VZF2 MBNL2_HUMAN muscleblind-like 2 isoform 1 38_39 C3H1-type 1. mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding 0 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) AATTTGCTCATCCCCCCAAAAG 0.411 NA 7 375 --- --- --- --- NA NA NA NA NA SUPT16H 11198 broad.mit.edu 37 14 21820849 21820850 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:21820849_21820850insG uc001wao.2 - 26 3465_3466 c.3126_3127insC c.(3124-3129)CCCAAGfs p.P1042fs SUPT16H_uc001wan.2_Frame_Shift_Ins_p.P186fs NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 1042_1043 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CTCTTTTTCTTGGGGGGTGCAG 0.48 NA 10 612 --- --- --- --- NA NA NA NA NA ACIN1 22985 broad.mit.edu 37 14 23549377 23549378 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:23549377_23549378insG uc001wit.3 - 6 1668_1669 c.1340_1341insC c.(1339-1341)CCTfs p.P447fs ACIN1_uc001wis.3_Frame_Shift_Ins_p.A129fs|ACIN1_uc010akg.2_Frame_Shift_Ins_p.A447fs|ACIN1_uc010tnj.1_Frame_Shift_Ins_p.A407fs NM_014977 NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 447 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding ovary(2)|large_intestine(1)|skin(1) 4 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GAATGAGGACAGCGGGGGCTGG 0.5 NA 8 181 --- --- --- --- NA NA NA NA NA SLC7A8 23428 broad.mit.edu 37 14 23608664 23608665 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:23608664_23608665insG uc001wiz.2 - 6 1606_1607 c.880_881insC c.(880-882)CAGfs p.Q294fs SLC7A8_uc001wix.2_Frame_Shift_Ins_p.Q91fs|SLC7A8_uc010tnk.1_Frame_Shift_Ins_p.Q70fs|SLC7A8_uc010tnl.1_Frame_Shift_Ins_p.Q189fs|SLC7A8_uc001wiy.2_Intron|SLC7A8_uc010akj.2_Intron NM_012244 NP_036376 Q9UHI5 LAT2_HUMAN solute carrier family 7 (cationic amino acid 294 blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin basolateral plasma membrane|cytoplasm|integral to plasma membrane neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity ovary(1) 1 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.00809) L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120) CAGCAGCTCCTGGGGGGACATT 0.52 NA 7 471 --- --- --- --- NA NA NA NA NA REC8 9985 broad.mit.edu 37 14 24642563 24642564 + Frame_Shift_Ins INS - - T rs148175635 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:24642563_24642564insT uc001wmr.2 + 6 832_833 c.405_406insT c.(403-408)CCCTTTfs p.P135fs REC8_uc001wms.2_Frame_Shift_Ins_p.P135fs NM_005132 NP_005123 O95072 REC8_HUMAN REC8 homolog 135_136 mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion nucleoplasm 0 GBM - Glioblastoma multiforme(265;0.00839) CTCCAGATCCCTTTTTTGGGAT 0.53 NSCLC(139;1764 2537 12868 49041) NA 7 267 --- --- --- --- NA NA NA NA NA AKAP6 9472 broad.mit.edu 37 14 32902724 32902725 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:32902724_32902725insC uc001wrq.2 + 2 195_196 c.25_26insC c.(25-27)TCCfs p.S9fs AKAP6_uc010aml.2_Frame_Shift_Ins_p.S6fs NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 9 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CGTGACACTTTCCCCCCTGAGG 0.505 Melanoma(49;821 1200 7288 13647 42351) NA 7 469 --- --- --- --- NA NA NA NA NA SAMD4A 23034 broad.mit.edu 37 14 55203891 55203892 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:55203891_55203892insC uc001xbb.2 + 3 863_864 c.862_863insC c.(862-864)GCCfs p.A288fs SAMD4A_uc001xbc.2_Intron NM_015589 NP_056404 Q9UPU9 SMAG1_HUMAN sterile alpha motif domain containing 4 isoform 289 positive regulation of translation cell junction|cytoplasm|dendrite|synapse|synaptosome translation repressor activity 0 ATCCGATCATGCCCCCCTGTCT 0.525 NA 9 698 --- --- --- --- NA NA NA NA NA KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:63174302_63174303insG uc001xfx.2 - 11 2941_2942 c.2890_2891insC c.(2890-2892)CAGfs p.Q964fs KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 964 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.381 NA 16 458 --- --- --- --- NA NA NA NA NA TSHR 7253 broad.mit.edu 37 14 81610521 81610522 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:81610521_81610522insG uc001xvd.1 + 10 2275_2276 c.2119_2120insG c.(2119-2121)CGGfs p.R707fs NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 707 Cytoplasmic (Potential). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCAGGCATACCGGGGGCAGAGG 0.49 NA Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 8 615 --- --- --- --- NA NA NA NA NA GALC 2581 broad.mit.edu 37 14 88406276 88406276 + Frame_Shift_Del DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:88406276delT uc001xvt.2 - 16 2283 c.1884delA c.(1882-1884)AAAfs p.K628fs GALC_uc010tvw.1_RNA|GALC_uc010tvx.1_Frame_Shift_Del_p.K602fs|GALC_uc010tvy.1_Frame_Shift_Del_p.K605fs|GALC_uc010tvz.1_Frame_Shift_Del_p.K572fs NM_000153 NP_000144 P54803 GALC_HUMAN galactosylceramidase isoform a precursor 628 carbohydrate metabolic process|galactosylceramide catabolic process lysosome cation binding|galactosylceramidase activity 0 GTGTATACCATTTTTTTGCTG 0.308 NA 9 1005 --- --- --- --- NA NA NA NA NA ADAM6 8755 broad.mit.edu 37 14 106774086 106774087 + Splice_Site INS - - AGTAATACACGGCA TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr14:106774086_106774087insAGTAATACACGGCA uc010tyt.1 - 430 c.15674_splice c.e430+1 Parts of antibodies, mostly variable regions. 0 GCCTCTTGCACGTGTCCTCAGC 0.55 NA 7 41 --- --- --- --- NA NA NA NA NA OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:22369023_22369024insG uc010tzu.1 + 1 448_449 c.448_449insG c.(448-450)AGGfs p.R150fs LOC727924_uc001yua.2_RNA|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.5 NA 32 754 --- --- --- --- NA NA NA NA NA FMN1 342184 broad.mit.edu 37 15 33357207 33357208 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:33357207_33357208insG uc001zhf.3 - 2 1442_1443 c.1442_1443insC c.(1441-1443)CCAfs p.P481fs FMN1_uc001zhg.2_Frame_Shift_Ins_p.P481fs NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 704 Mediates interaction with alpha-catenin (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) CTTTTGTCTTTGGGGGTGGCCA 0.495 NA 7 749 --- --- --- --- NA NA NA NA NA RYR3 6263 broad.mit.edu 37 15 34015000 34015001 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:34015000_34015001insG uc001zhi.2 + 44 6774_6775 c.6704_6705insG c.(6703-6705)GAGfs p.E2235fs RYR3_uc010bar.2_Frame_Shift_Ins_p.E2235fs NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2235 4 X approximate repeats.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGCGGGGTGAGGGGGGAAACG 0.584 NA 7 243 --- --- --- --- NA NA NA NA NA RYR3 6263 broad.mit.edu 37 15 34078053 34078054 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:34078053_34078054insC uc001zhi.2 + 66 9529_9530 c.9459_9460insC c.(9457-9462)CTGCCCfs p.L3153fs RYR3_uc010bar.2_Frame_Shift_Ins_p.L3153fs NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3153_3154 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGAGAACCTGCCCCCCAGCAC 0.564 NA 9 345 --- --- --- --- NA NA NA NA NA BUB1B 701 broad.mit.edu 37 15 40477505 40477506 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:40477505_40477506insC uc001zkx.3 + 7 1103_1104 c.891_892insC c.(889-894)GCACCCfs p.A297fs BUB1B_uc010ucl.1_Frame_Shift_Ins_p.A160fs NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 297_298 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) CATGGATAGCACCCCCCATGCC 0.475 NA Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 8 566 --- --- --- --- NA NA NA NA NA C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:40630771_40630772insG uc001zlh.3 - 5 625_626 c.609_610insC c.(607-612)CCCACGfs p.P203fs C15orf52_uc001zli.1_Frame_Shift_Ins_p.P135fs|C15orf52_uc010ucn.1_5'Flank NM_207380 NP_997263 Q6ZUT6 CO052_HUMAN hypothetical protein LOC388115 203_204 large_intestine(1) 1 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;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 NA OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 91 --- --- --- --- NA NA NA NA NA RTF1 23168 broad.mit.edu 37 15 41762468 41762469 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:41762468_41762469insA uc001zny.2 + 7 915_916 c.903_904insA c.(901-906)GCCAAAfs p.A301fs NM_015138 NP_055953 Q92541 RTF1_HUMAN Paf1/RNA polymerase II complex component 301_302 Lys-rich.|Glu-rich. histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent nucleoplasm protein binding|single-stranded DNA binding ovary(2) 2 all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119) AGCTCCTTGCCAAAAAACAGCC 0.406 NA 10 304 --- --- --- --- NA NA NA NA NA TTBK2 146057 broad.mit.edu 37 15 43075687 43075688 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:43075687_43075688insG uc001zqo.2 - 11 1565_1566 c.1126_1127insC c.(1126-1128)CGTfs p.R376fs TTBK2_uc010bcy.2_Frame_Shift_Ins_p.R307fs|TTBK2_uc001zqp.2_Frame_Shift_Ins_p.R376fs|TTBK2_uc010bcz.1_Frame_Shift_Ins_p.R341fs NM_173500 NP_775771 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 376 cell death ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|stomach(1)|pancreas(1)|skin(1) 7 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CTCCTGGGGACGGGGGTGTCCC 0.371 NA 7 1139 --- --- --- --- NA NA NA NA NA WDR72 256764 broad.mit.edu 37 15 53908070 53908071 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:53908070_53908071insT uc002acj.2 - 15 2374_2375 c.2332_2333insA c.(2332-2334)ATGfs p.M778fs WDR72_uc010bfi.1_Frame_Shift_Ins_p.M778fs NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 778 lung(1)|skin(1) 2 all cancers(107;0.0511) CTTAGGCTGCATTTTTTTGGAG 0.391 NA 9 1143 --- --- --- --- NA NA NA NA NA HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:63918305_63918306insG uc002amp.2 - 71 13301_13302 c.13153_13154insC c.(13153-13155)CAGfs p.Q4385fs NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 CGCCCCATACTGGGGGGGCACT 0.559 NA 7 92 --- --- --- --- NA NA NA NA NA ZNF609 23060 broad.mit.edu 37 15 64967993 64967994 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr15:64967993_64967994insC uc002ann.2 + 4 2940_2941 c.2940_2941insC c.(2938-2943)GTACCCfs p.V980fs NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 980_981 nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 ATGCCTATGTACCCCCCTATGG 0.55 NA 9 1149 --- --- --- --- NA NA NA NA NA GPR139 124274 broad.mit.edu 37 16 20043388 20043389 + Frame_Shift_Ins INS - - G rs140063049 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:20043388_20043389insG uc002dgu.1 - 2 892_893 c.730_731insC c.(730-732)CGCfs p.R244fs GPR139_uc010vaw.1_Frame_Shift_Ins_p.R151fs NM_001002911 NP_001002911 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 244 Helical; Name=6; (Potential). integral to membrane|plasma membrane ovary(2) 2 CATGATGATGCGGGGGGCCCAA 0.545 NA 7 194 --- --- --- --- NA NA NA NA NA ACSM2A 123876 broad.mit.edu 37 16 20489924 20489925 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:20489924_20489925insC uc010bwe.2 + 11 1445_1446 c.1206_1207insC c.(1204-1209)CTGCCCfs p.L402fs ACSM2A_uc010vax.1_Frame_Shift_Ins_p.L323fs|ACSM2A_uc002dhf.3_Frame_Shift_Ins_p.L402fs|ACSM2A_uc002dhg.3_Frame_Shift_Ins_p.L402fs|ACSM2A_uc010vay.1_Frame_Shift_Ins_p.L323fs|ACSM2A_uc002dhh.3_Frame_Shift_Ins_p.L32fs NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 402_403 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GCAACGTCCTGCCCCCCGGCAC 0.505 NA 12 379 --- --- --- --- NA NA NA NA NA ACSM2B 348158 broad.mit.edu 37 16 20556547 20556548 + Frame_Shift_Ins INS - - G rs146499503 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:20556547_20556548insG uc002dhj.3 - 11 1422_1423 c.1212_1213insC c.(1210-1215)CCCGGCfs p.P404fs ACSM2B_uc002dhk.3_Frame_Shift_Ins_p.P404fs|ACSM2B_uc010bwf.1_Frame_Shift_Ins_p.P404fs NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 404_405 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CCTTCTGTGCCGGGGGGCAGGA 0.515 NA 7 349 --- --- --- --- NA NA NA NA NA DNAH3 55567 broad.mit.edu 37 16 21063027 21063028 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:21063027_21063028insG uc010vbe.1 - 29 4201_4202 c.4201_4202insC c.(4201-4203)CGGfs p.R1401fs NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1401 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) GATCACCAGCCGGGGGGAGTTT 0.569 NA 14 553 --- --- --- --- NA NA NA NA NA USP31 57478 broad.mit.edu 37 16 23079851 23079852 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:23079851_23079852insC uc002dll.2 - 16 3574_3575 c.3574_3575insG c.(3574-3576)GCCfs p.A1192fs USP31_uc002dlk.2_Frame_Shift_Ins_p.A464fs|USP31_uc010vca.1_Frame_Shift_Ins_p.A495fs|USP31_uc010bxm.2_Frame_Shift_Ins_p.A480fs NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1192 Ser-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity ovary(3)|lung(3)|breast(2)|pancreas(1)|skin(1) 10 GBM - Glioblastoma multiforme(48;0.0187) GTGCTTCCCGGCCCCCCTGCCC 0.644 NA 7 151 --- --- --- --- NA NA NA NA NA TNRC6A 27327 broad.mit.edu 37 16 24804889 24804890 + Frame_Shift_Ins INS - - G rs139796934 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:24804889_24804890insG uc002dmm.2 + 7 3385_3386 c.3271_3272insG c.(3271-3273)TGGfs p.W1091fs TNRC6A_uc010bxs.2_Frame_Shift_Ins_p.W838fs|TNRC6A_uc010vcc.1_Frame_Shift_Ins_p.W838fs|TNRC6A_uc002dmn.2_Frame_Shift_Ins_p.W838fs|TNRC6A_uc002dmo.2_Intron NM_014494 NP_055309 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1091 Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0394) TGGTCCCAGCTGGGGGGAACCC 0.55 NA 8 487 --- --- --- --- NA NA NA NA NA SEZ6L2 26470 broad.mit.edu 37 16 29891248 29891249 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:29891248_29891249insG uc002duq.3 - 9 1749_1750 c.1509_1510insC c.(1507-1512)CCCAATfs p.P503fs uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Frame_Shift_Ins_p.P433fs|SEZ6L2_uc002dur.3_Frame_Shift_Ins_p.P433fs|SEZ6L2_uc002dus.3_Frame_Shift_Ins_p.P389fs|SEZ6L2_uc010vec.1_Frame_Shift_Ins_p.P503fs|SEZ6L2_uc010ved.1_Frame_Shift_Ins_p.P459fs NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 503_504 Sushi 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TCGATGGCATTGGGGGGCCCAG 0.604 NA 9 386 --- --- --- --- NA NA NA NA NA ITGAD 3681 broad.mit.edu 37 16 31422532 31422533 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:31422532_31422533insG uc002ebv.1 + 13 1541_1542 c.1492_1493insG c.(1492-1494)AGGfs p.R498fs ITGAD_uc010cap.1_Frame_Shift_Ins_p.R498fs NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 498 Extracellular (Potential).|FG-GAP 5. cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TCCCTTGCCTAGGGGGGTGAGT 0.629 NA 8 570 --- --- --- --- NA NA NA NA NA RBL2 5934 broad.mit.edu 37 16 53504347 53504348 + Frame_Shift_Ins INS - - G rs67487800 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:53504347_53504348insG uc002ehi.3 + 16 2416_2417 c.2298_2299insG c.(2296-2301)GTTGGGfs p.V766fs RBL2_uc002ehj.2_Frame_Shift_Ins_p.V476fs|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 766_767 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 AAGTCAATGTTGGGGGGCAGGC 0.48 NA 7 401 --- --- --- --- NA NA NA NA NA CNOT1 23019 broad.mit.edu 37 16 58577809 58577810 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:58577809_58577810insG uc002env.2 - 31 4431 c.4138_splice c.e31-1 p.I1380_splice CNOT1_uc002enw.2_Splice_Site|CNOT1_uc002enu.3_Splice_Site_p.I1375_splice|CNOT1_uc002enx.2_Intron|CNOT1_uc010vik.1_Splice_Site_p.I337_splice NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CAAGGGAATCTGGGGGGTTGGG 0.46 NA 7 158 --- --- --- --- NA NA NA NA NA NAE1 8883 broad.mit.edu 37 16 66839678 66839679 + Splice_Site INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:66839678_66839679insC uc002eqf.2 - 19 1572 c.1495_splice c.e19+1 p.G499_splice NAE1_uc002eqe.2_Splice_Site_p.G493_splice|NAE1_uc002eqg.2_Splice_Site_p.G410_splice|NAE1_uc010cdv.2_Splice_Site_p.G502_splice NM_003905 NP_003896 Q13564 ULA1_HUMAN NEDD8 activating enzyme E1 subunit 1 isoform a apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction cytoplasm|insoluble fraction|plasma membrane catalytic activity|protein heterodimerization activity ovary(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214) Adenosine triphosphate(DB00171) TATGGAACTCACCCCCCAAGAA 0.406 NA 7 212 --- --- --- --- NA NA NA NA NA ZFHX3 463 broad.mit.edu 37 16 72993508 72993509 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:72993508_72993509insC uc002fck.2 - 2 1209_1210 c.536_537insG c.(535-537)GGCfs p.G179fs ZFHX3_uc002fcl.2_Intron NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 179 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) CCCCTTGCTTGCCCCCCGCGCC 0.639 NA 8 33 --- --- --- --- NA NA NA NA NA GLG1 2734 broad.mit.edu 37 16 74525008 74525009 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:74525008_74525009insC uc002fcy.3 - 8 1389_1390 c.1339_1340insG c.(1339-1341)GAGfs p.E447fs GLG1_uc002fcx.2_Frame_Shift_Ins_p.E447fs|GLG1_uc002fcw.3_Frame_Shift_Ins_p.E436fs|GLG1_uc002fcz.3_Intron NM_001145667 NP_001139139 Q92896 GSLG1_HUMAN golgi apparatus protein 1 isoform 3 447 Extracellular (Potential).|Cys-rich GLG1 6. Golgi membrane|integral to membrane receptor binding ovary(1)|breast(1) 2 GTGTTCAATCTCCCCCCGACAG 0.515 NA 9 283 --- --- --- --- NA NA NA NA NA WDR59 79726 broad.mit.edu 37 16 74943495 74943496 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:74943495_74943496insG uc002fdh.1 - 16 1647_1648 c.1545_1546insC c.(1543-1548)CCCTTAfs p.P515fs WDR59_uc002fdi.2_Frame_Shift_Ins_p.P515fs|WDR59_uc002fdg.1_Frame_Shift_Ins_p.P107fs NM_030581 NP_085058 Q6PJI9 WDR59_HUMAN WD repeat domain 59 515_516 ovary(1)|breast(1) 2 AACGTCGGTAAGGGGGGAGTGA 0.554 NA 9 451 --- --- --- --- NA NA NA NA NA TERF2IP 54386 broad.mit.edu 37 16 75690386 75690388 + In_Frame_Del DEL TCC TCC - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 TCC TCC - - TCC TCC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr16:75690386_75690388delTCC uc002fet.1 + 3 1174_1176 c.1077_1079delTCC c.(1075-1080)TATCCC>TAC p.P360del NM_018975 NP_061848 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting 360 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1) 1 CTGATGGATATCCCATTTGGTCC 0.453 NA 9 387 --- --- --- --- NA NA NA NA NA RPA1 6117 broad.mit.edu 37 17 1782982 1782983 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:1782982_1782983insG uc002fto.2 + 11 1196_1197 c.1081_1082insG c.(1081-1083)TGGfs p.W361fs NM_002945 NP_002936 P27694 RFA1_HUMAN replication protein A1 361 cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body metal ion binding|protein binding|single-stranded DNA binding 0 TGCTACACTGTGGGGGGAAGAT 0.53 NA NER 7 857 --- --- --- --- NA NA NA NA NA TP53 7157 broad.mit.edu 37 17 7579470 7579470 + Frame_Shift_Del DEL C C - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:7579470delC uc002gim.2 - 4 411 c.217delG c.(217-219)GTGfs p.V73fs TP53_uc002gig.1_Frame_Shift_Del_p.V73fs|TP53_uc002gih.2_Frame_Shift_Del_p.V73fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Frame_Shift_Del_p.V73fs|TP53_uc010cni.1_Frame_Shift_Del_p.V73fs|TP53_uc002gij.2_Frame_Shift_Del_p.V73fs|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Frame_Shift_Del_p.V34fs|TP53_uc010cnk.1_Frame_Shift_Del_p.V88fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 73 Interaction with WWOX.|Interaction with HRMT1L2. V -> M (in sporadic cancers; somatic mutation).|V -> E (in a sporadic cancer; somatic mutation).|V -> L (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.V73L(3)|p.G59fs*23(3)|p.V73fs*50(2)|p.V73fs*76(2)|p.V73M(2)|p.V73fs*9(1)|p.R65fs*38(1)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.D57_A76del20(1)|p.V73E(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCAGGGGCCACGGGGGGAGCA 0.602 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 70 289 --- --- --- --- NA NA NA NA NA MYH10 4628 broad.mit.edu 37 17 8409750 8409751 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:8409750_8409751insG uc002gll.2 - 25 3274_3275 c.3178_3179insC c.(3178-3180)CTCfs p.L1060fs MYH10_uc002glm.2_Frame_Shift_Ins_p.L1091fs|MYH10_uc010cnx.2_Frame_Shift_Ins_p.L1069fs NM_005964 NP_005955 P35580 MYH10_HUMAN myosin, heavy polypeptide 10, non-muscle 1060 Potential. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity ovary(2) 2 CTCCCCGTCGAGTTTTCTTTTG 0.515 NA 8 225 --- --- --- --- NA NA NA NA NA MYH3 4621 broad.mit.edu 37 17 10555835 10555836 + Frame_Shift_Ins INS - - G rs139160750 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:10555835_10555836insG uc002gmq.1 - 3 326_327 c.249_250insC c.(247-252)CCCAAGfs p.P83fs NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 83_84 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 CTGTCGAACTTGGGGGGGTTCA 0.495 NA 12 171 --- --- --- --- NA NA NA NA NA PRPSAP2 5636 broad.mit.edu 37 17 18832235 18832236 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:18832235_18832236insC uc002gup.1 + 11 1127_1128 c.916_917insC c.(916-918)GCCfs p.A306fs PRPSAP2_uc002guo.1_Frame_Shift_Ins_p.A220fs|PRPSAP2_uc010vyi.1_Frame_Shift_Ins_p.A254fs|PRPSAP2_uc010vyj.1_Frame_Shift_Ins_p.A220fs|PRPSAP2_uc010vyk.1_Intron|PRPSAP2_uc002guq.1_Frame_Shift_Ins_p.A93fs NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 306 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 GTCTTCTGACGCCCCCCGGCGG 0.495 NA 10 402 --- --- --- --- NA NA NA NA NA SSH2 85464 broad.mit.edu 37 17 27959374 27959375 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:27959374_27959375insG uc002heo.1 - 15 2756_2757 c.2756_2757insC c.(2755-2757)CCAfs p.P919fs SSH2_uc010wbh.1_Frame_Shift_Ins_p.P946fs NM_033389 NP_203747 Q76I76 SSH2_HUMAN slingshot 2 919 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity skin(2) 2 ATGAATGTTCTGGGGGGGCTTC 0.48 NA 22 451 --- --- --- --- NA NA NA NA NA NF1 4763 broad.mit.edu 37 17 29562738 29562739 + Frame_Shift_Del DEL CT CT - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CT CT - - CT CT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:29562738_29562739delCT uc002hgg.2 + 28 4151_4152 c.3818_3819delCT c.(3817-3819)ACTfs p.T1273fs NF1_uc002hgh.2_Frame_Shift_Del_p.T1273fs|NF1_uc010csn.1_Frame_Shift_Del_p.T1133fs|NF1_uc002hgi.1_Frame_Shift_Del_p.T306fs NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1273 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TCCATGCAGACTCTCTTCCGAG 0.416 NA D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 12 558 --- --- --- --- NA NA NA NA NA ACACA 31 broad.mit.edu 37 17 35600370 35600371 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:35600370_35600371insG uc002hnm.2 - 22 2927_2928 c.2736_2737insC c.(2734-2739)CCCAATfs p.P912fs ACACA_uc002hnk.2_Frame_Shift_Ins_p.P834fs|ACACA_uc002hnl.2_Frame_Shift_Ins_p.P854fs|ACACA_uc002hnn.2_Frame_Shift_Ins_p.P912fs|ACACA_uc002hno.2_Frame_Shift_Ins_p.P949fs|ACACA_uc010cuz.2_Frame_Shift_Ins_p.P912fs NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 912_913 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) TTCTCCACATTGGGGGGAATGC 0.47 Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249) NA 9 909 --- --- --- --- NA NA NA NA NA CNTNAP1 8506 broad.mit.edu 37 17 40843872 40843873 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:40843872_40843873insC uc002iay.2 + 16 2609_2610 c.2393_2394insC c.(2392-2394)TTCfs p.F798fs CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 798 Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCACTACGCTTCCCCCCAATCC 0.564 NA 12 643 --- --- --- --- NA NA NA NA NA NFE2L1 4779 broad.mit.edu 37 17 46135787 46135788 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:46135787_46135788insG uc002imz.3 + 6 1754_1755 c.1103_1104insG c.(1102-1104)CTGfs p.L368fs NFE2L1_uc002ina.3_Frame_Shift_Ins_p.L338fs|NFE2L1_uc002inb.3_Frame_Shift_Ins_p.L338fs|NFE2L1_uc010wle.1_Frame_Shift_Ins_p.L180fs|NFE2L1_uc010wlf.1_Frame_Shift_Ins_p.L212fs NM_003204 NP_003195 Q14494 NF2L1_HUMAN nuclear factor erythroid 2-like 1 368 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity skin(1) 1 CAGGCGTCCCTGGGGGGCTGCA 0.604 NA 8 280 --- --- --- --- NA NA NA NA NA SKAP1 8631 broad.mit.edu 37 17 46262152 46262153 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:46262152_46262153insG uc002ini.1 - 7 611_612 c.499_500insC c.(499-501)CACfs p.H167fs SKAP1_uc002inj.1_Frame_Shift_Ins_p.H167fs|SKAP1_uc010dbd.1_Frame_Shift_Ins_p.H73fs|SKAP1_uc010dbe.1_Frame_Shift_Ins_p.H167fs NM_003726 NP_003717 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 isoform 167 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding 0 TCTTCGCAGGTGGGGGGCCATC 0.53 NA 7 545 --- --- --- --- NA NA NA NA NA RNF43 54894 broad.mit.edu 37 17 56435160 56435161 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:56435160_56435161insC uc002iwf.2 - 8 3932_3933 c.1976_1977insG c.(1975-1977)GGTfs p.G659fs RNF43_uc010wnv.1_Frame_Shift_Ins_p.G618fs|RNF43_uc002iwh.3_Frame_Shift_Ins_p.G659fs|RNF43_uc002iwg.3_Frame_Shift_Ins_p.G659fs|RNF43_uc010dcw.2_Frame_Shift_Ins_p.G532fs NM_017763 NP_060233 Q68DV7 RNF43_HUMAN ring finger protein 43 precursor 659 Pro-rich.|Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding ovary(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTCGGAGGGACCCCCCCGCCT 0.599 NA 7 90 --- --- --- --- NA NA NA NA NA MARCH10 162333 broad.mit.edu 37 17 60814265 60814266 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:60814265_60814266insC uc010ddr.2 - 6 1201_1202 c.963_964insG c.(961-966)GGGACAfs p.G321fs MARCH10_uc002jag.3_Frame_Shift_Ins_p.G321fs|MARCH10_uc010dds.2_Frame_Shift_Ins_p.G359fs|MARCH10_uc002jah.2_Frame_Shift_Ins_p.G320fs|uc002jaj.1_RNA|uc002jak.2_RNA NM_001100875 NP_001094345 Q8NA82 MARHA_HUMAN ring finger protein 190 321_322 ligase activity|zinc ion binding 0 GGGGTCGATGTCCCCCCAAATC 0.46 NA 14 1074 --- --- --- --- NA NA NA NA NA ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr17:67083603_67083604insG uc002jhw.1 - 29 3884_3885 c.3709_3710insC c.(3709-3711)CAAfs p.Q1237fs NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 1237 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 NA 18 1725 --- --- --- --- NA NA NA NA NA KIAA0802 23255 broad.mit.edu 37 18 8793003 8793004 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:8793003_8793004insC uc002knr.2 + 8 2037_2038 c.1895_1896insC c.(1894-1896)GGCfs p.G632fs KIAA0802_uc002knq.2_Intron|KIAA0802_uc002kns.2_Intron NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 CAGCTCAGGGGCCCCCCCGTTT 0.554 NA 10 154 --- --- --- --- NA NA NA NA NA ALPK2 115701 broad.mit.edu 37 18 56246441 56246442 + Frame_Shift_Ins INS - - C rs12606191 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr18:56246441_56246442insC uc002lhj.3 - 4 1780_1781 c.1566_1567insG c.(1564-1569)GGAAAGfs p.G522fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 522_523 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 CATAAGTCCTTTCCCCCCACTC 0.52 NA OREG0025011 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 336 --- --- --- --- NA NA NA NA NA MPV17L2 84769 broad.mit.edu 37 19 18305818 18305819 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:18305818_18305819insC uc002nid.2 + 4 538_539 c.486_487insC c.(484-489)GTGCCCfs p.V162fs MPV17L2_uc010ebj.2_Frame_Shift_Ins_p.A73fs NM_032683 NP_116072 Q567V2 M17L2_HUMAN MPV17 mitochondrial membrane protein-like 2 162_163 integral to membrane 0 TCCTCTTCGTGCCCCCCCAATT 0.455 NA 8 88 --- --- --- --- NA NA NA NA NA TSHZ3 57616 broad.mit.edu 37 19 31769061 31769062 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:31769061_31769062insC uc002nsy.3 - 2 1702_1703 c.1637_1638insG c.(1636-1638)GGCfs p.G546fs NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 546 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) TGCTGGGATAGCCCCCCCAGCT 0.559 NA 7 206 --- --- --- --- NA NA NA NA NA TSHZ3 57616 broad.mit.edu 37 19 31769141 31769142 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:31769141_31769142insC uc002nsy.3 - 2 1622_1623 c.1557_1558insG c.(1555-1560)GGGCTTfs p.G519fs NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 519_520 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) AGGATATCAAGCCCCCCCTTGG 0.5 NA 9 351 --- --- --- --- NA NA NA NA NA ZNF566 84924 broad.mit.edu 37 19 36940725 36940726 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:36940725_36940726insC uc002oea.3 - 5 492_493 c.410_411insG c.(409-411)GGAfs p.G137fs ZNF566_uc010xte.1_Frame_Shift_Ins_p.G137fs|ZNF566_uc010xtf.1_Frame_Shift_Ins_p.G138fs|ZNF566_uc002oeb.3_Frame_Shift_Ins_p.G137fs|ZNF566_uc002oec.3_Frame_Shift_Ins_p.G33fs|ZNF566_uc010xtg.1_Frame_Shift_Ins_p.G33fs NM_032838 NP_116227 Q969W8 ZN566_HUMAN zinc finger protein 566 isoform 1 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.162) GATTGAAATGTCCCCCCTGAGA 0.391 NA 11 477 --- --- --- --- NA NA NA NA NA AXL 558 broad.mit.edu 37 19 41743932 41743933 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:41743932_41743933insC uc010ehj.2 + 7 1057_1058 c.867_868insC c.(865-870)GTGCCCfs p.V289fs CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Frame_Shift_Ins_p.V289fs|AXL_uc010ehk.2_Frame_Shift_Ins_p.V289fs NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 289_290 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.V289M(1) lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 AAGCATCCGTGCCCCCCCATCA 0.649 NA 8 161 --- --- --- --- NA NA NA NA NA GIPR 2696 broad.mit.edu 37 19 46180611 46180611 + Frame_Shift_Del DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:46180611delT uc002pcu.1 + 9 923 c.824delT c.(823-825)GTGfs p.V275fs GIPR_uc002pct.1_Frame_Shift_Del_p.V275fs|GIPR_uc010xxp.1_Frame_Shift_Del_p.V239fs|GIPR_uc010xxq.1_Intron NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 275 Helical; Name=4; (Potential). generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) ATTCCCTGGGTGATCGTCAGG 0.706 NA 2 4 --- --- --- --- NA NA NA NA NA CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr19:48737669_48737670insC uc002pie.3 - 3 379_380 c.66_67insG c.(64-69)GGGACAfs p.G22fs CARD8_uc002pii.3_Frame_Shift_Ins_p.D114fs|CARD8_uc010xzi.1_Frame_Shift_Ins_p.G22fs|CARD8_uc010els.2_5'Flank|CARD8_uc010xzj.1_Frame_Shift_Ins_p.D114fs|CARD8_uc010xzk.1_Frame_Shift_Ins_p.G46fs|CARD8_uc002pif.3_Frame_Shift_Ins_p.G22fs|CARD8_uc002pig.3_5'UTR|CARD8_uc002pih.3_Frame_Shift_Ins_p.D64fs|CARD8_uc010xzl.1_Frame_Shift_Ins_p.D64fs|CARD8_uc010xzm.1_Frame_Shift_Ins_p.D114fs NM_014959 NP_055774 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 22_23 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity 0 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 NA 9 326 --- --- --- --- NA NA NA NA NA WDR35 57539 broad.mit.edu 37 2 20133236 20133237 + Frame_Shift_Del DEL CA CA - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:20133236_20133237delCA uc002rdi.2 - 23 2724_2725 c.2616_2617delTG c.(2614-2619)TGTGAAfs p.C872fs WDR35_uc002rdj.2_Frame_Shift_Del_p.C861fs|WDR35_uc010ext.2_RNA|WDR35_uc002rdh.2_Intron NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN WD repeat domain 35 isoform 1 872_873 ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTGCTTGTTCACACATTCCAA 0.356 NA 113 257 --- --- --- --- NA NA NA NA NA BIRC6 57448 broad.mit.edu 37 2 32678942 32678950 + In_Frame_Del DEL AAGTTGAAC AAGTTGAAC - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 AAGTTGAAC AAGTTGAAC - - AAGTTGAAC AAGTTGAAC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:32678942_32678950delAAGTTGAAC uc010ezu.2 + 23 4819_4827 c.4685_4693delAAGTTGAAC c.(4684-4695)GAAGTTGAACCT>GCT p.1562_1565EVEP>A NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 1562_1565 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GGACTTTTGGAAGTTGAACCTCTGCACTT 0.383 Pancreas(94;175 1509 16028 18060 45422) NA 23 303 --- --- --- --- NA NA NA NA NA ANTXR1 84168 broad.mit.edu 37 2 69409763 69409764 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:69409763_69409764insC uc002sfg.2 + 16 1680_1681 c.1324_1325insC c.(1324-1326)TCCfs p.S442fs NM_032208 NP_115584 Q9H6X2 ANTR1_HUMAN anthrax toxin receptor 1 isoform 1 precursor 442 Cytoplasmic (Potential). actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading filopodium membrane|integral to membrane|lamellipodium membrane actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity p.S442S(1) ovary(2)|skin(2) 4 TCGGCCTTCTTCCCCCCGGAAG 0.421 NA Familial_Infantile_Hemangioma 9 498 --- --- --- --- NA NA NA NA NA GMCL1 64395 broad.mit.edu 37 2 70074752 70074753 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:70074752_70074753insA uc002sfu.2 + 7 1043_1044 c.836_837insA c.(835-837)CTAfs p.L279fs NM_178439 NP_848526 Q96IK5 GMCL1_HUMAN germ cell-less 279 cell differentiation|multicellular organismal development|spermatogenesis nuclear matrix ovary(3) 3 TACACTGCTCTAAAAAAGGTAC 0.223 NA 7 749 --- --- --- --- NA NA NA NA NA RAB11FIP5 26056 broad.mit.edu 37 2 73302654 73302655 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:73302654_73302655insG uc002siu.3 - 5 2197_2198 c.1956_1957insC c.(1954-1959)CCCAAAfs p.P652fs RAB11FIP5_uc002sis.3_Frame_Shift_Ins_p.P31fs|RAB11FIP5_uc002sit.3_Frame_Shift_Ins_p.P574fs NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN RAB11 family interacting protein 5 (class I) 652_653 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding 0 GAAGGCTATTTGGGGGGGCCCG 0.629 NA 9 76 --- --- --- --- NA NA NA NA NA SEMA4F 10505 broad.mit.edu 37 2 74900582 74900583 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:74900582_74900583insG uc002sna.1 + 6 662 c.551_splice c.e6-1 p.G184_splice SEMA4F_uc010ysb.1_Splice_Site_p.G120_splice|SEMA4F_uc010ffq.1_Splice_Site_p.G151_splice|SEMA4F_uc010ffr.1_Splice_Site|SEMA4F_uc002snb.1_Splice_Site|SEMA4F_uc002snc.1_Intron NM_004263 NP_004254 O95754 SEM4F_HUMAN semaphorin W precursor cell-cell signaling endoplasmic reticulum|integral to plasma membrane receptor activity ovary(2)|pancreas(1)|skin(1) 4 GTCGCCCTGCAGGGGGGGTCCT 0.589 NA 7 153 --- --- --- --- NA NA NA NA NA HK2 3099 broad.mit.edu 37 2 75104377 75104378 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:75104377_75104378insG uc002snd.2 + 8 2886_2887 c.960_961insG c.(958-963)TTTGGGfs p.F320fs NM_000189 NP_000180 P52789 HXK2_HUMAN hexokinase 2 320_321 Regulatory. apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport cytosol|mitochondrial outer membrane ATP binding|glucokinase activity ovary(1)|lung(1) 2 AGCTGCTCTTTGGGGGGAAGCT 0.545 NA 10 433 --- --- --- --- NA NA NA NA NA KCMF1 56888 broad.mit.edu 37 2 85280407 85280408 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:85280407_85280408insG uc002sox.3 + 7 1365_1366 c.1021_1022insG c.(1021-1023)CGGfs p.R341fs NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 341 intracellular ligase activity|zinc ion binding ovary(2) 2 TGAGGATGATCGGGGGGAGATG 0.45 NA 8 199 --- --- --- --- NA NA NA NA NA IL1R2 7850 broad.mit.edu 37 2 102638681 102638682 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:102638681_102638682insC uc002tbm.2 + 6 950_951 c.721_722insC c.(721-723)TCCfs p.S241fs IL1R2_uc002tbn.2_Frame_Shift_Ins_p.S241fs|IL1R2_uc002tbo.1_Frame_Shift_Ins_p.S241fs NM_004633 NP_004624 P27930 IL1R2_HUMAN interleukin 1 receptor, type II precursor 241 Extracellular (Potential).|Ig-like C2-type 3. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity ovary(1)|breast(1) 2 Anakinra(DB00026) TGTGATCATTTCCCCCCTCAAG 0.49 Pancreas(106;189 1628 2302 5133 12295) NA 13 500 --- --- --- --- NA NA NA NA NA SLC9A2 6549 broad.mit.edu 37 2 103324745 103324746 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:103324745_103324746insC uc002tca.2 + 12 2378_2379 c.2236_2237insC c.(2236-2238)ACCfs p.T746fs NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN solute carrier family 9 (sodium/hydrogen 746 Cytoplasmic (Potential). integral to membrane|plasma membrane sodium:hydrogen antiporter activity central_nervous_system(3)|skin(3)|breast(2) 8 TATGCCCAGCACCCCCCCAACA 0.53 NA 17 310 --- --- --- --- NA NA NA NA NA ANAPC1 64682 broad.mit.edu 37 2 112582738 112582739 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:112582738_112582739insG uc002thi.2 - 23 2957_2958 c.2710_2711insC c.(2710-2712)CAGfs p.Q904fs NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 904 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 TTGCAACTTCTGGGGGGCTAAA 0.302 NA 8 456 --- --- --- --- NA NA NA NA NA NCKAP5 344148 broad.mit.edu 37 2 133541083 133541084 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:133541083_133541084insG uc002ttp.2 - 14 3674_3675 c.3300_3301insC c.(3298-3303)CCCAAGfs p.P1100fs NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1100_1101 Ser-rich. protein binding 0 AAGGAAGGCTTGGGGGGTGTGG 0.505 NA 7 847 --- --- --- --- NA NA NA NA NA R3HDM1 23518 broad.mit.edu 37 2 136389448 136389449 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:136389448_136389449insC uc002tuo.2 + 9 945_946 c.575_576insC c.(574-576)TTCfs p.F192fs R3HDM1_uc010fni.2_Frame_Shift_Ins_p.F190fs|R3HDM1_uc002tup.2_Frame_Shift_Ins_p.F136fs|R3HDM1_uc010zbh.1_Frame_Shift_Ins_p.F24fs NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 192 R3H. nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) CGTAAAAAATTCCCCCCAATGA 0.396 NA 9 469 --- --- --- --- NA NA NA NA NA ACVR2A 92 broad.mit.edu 37 2 148683685 148683686 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:148683685_148683686insA uc002twg.2 + 11 1571_1572 c.1302_1303insA c.(1300-1305)CATAAAfs p.H434fs ACVR2A_uc010zbn.1_Frame_Shift_Ins_p.H326fs|ACVR2A_uc002twh.2_Frame_Shift_Ins_p.H434fs NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 434_435 Cytoplasmic (Potential).|Protein kinase. activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity stomach(8)|large_intestine(2)|lung(1)|breast(1)|kidney(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.0969) TTGTTGTGCATAAAAAAAAGAG 0.366 NA 57 314 --- --- --- --- NA NA NA NA NA CSRNP3 80034 broad.mit.edu 37 2 166532949 166532950 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:166532949_166532950insA uc002udf.2 + 6 912_913 c.536_537insA c.(535-537)ACAfs p.T179fs CSRNP3_uc002udg.2_Frame_Shift_Ins_p.T179fs NM_024969 NP_079245 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 179 apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|large_intestine(1)|skin(1) 5 CCTTTGCCAACAAAAAAACGAA 0.48 NA 9 745 --- --- --- --- NA NA NA NA NA XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:168099957_168099958insG uc002udx.2 + 8 2073_2074 c.2055_2056insG c.(2053-2058)ACTGGGfs p.T685fs XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Frame_Shift_Ins_p.T510fs|XIRP2_uc010fpq.2_Frame_Shift_Ins_p.T463fs|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 510_511 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 AGGACATAACTGGGGGGGATGT 0.421 NA 15 326 --- --- --- --- NA NA NA NA NA MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:171240258_171240259insC uc002ufy.2 + 12 1367_1368 c.1224_1225insC c.(1222-1227)AATCCCfs p.N408fs MYO3B_uc002ufv.2_Frame_Shift_Ins_p.N395fs|MYO3B_uc010fqb.1_Frame_Shift_Ins_p.N395fs|MYO3B_uc002ufz.2_Frame_Shift_Ins_p.N408fs|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 408_409 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GCGCCTCCAATCCCCCCCACAT 0.465 NA 13 269 --- --- --- --- NA NA NA NA NA TTN 7273 broad.mit.edu 37 2 179611375 179611375 + Frame_Shift_Del DEL C C - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:179611375delC uc002unb.2 - 46 15976 c.15752delG c.(15751-15753)GGAfs p.G5251fs TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 8770 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) CATGTACTCTCCCCCTTCTCC 0.408 NA 8 255 --- --- --- --- NA NA NA NA NA NEUROD1 4760 broad.mit.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:182542971_182542972insG uc002uof.2 - 2 852_853 c.616_617insC c.(616-618)CACfs p.H206fs CERKL_uc002uod.1_Intron NM_002500 NP_002491 Q13562 NDF1_HUMAN neurogenic differentiation 1 206 amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus cytoplasm|nucleus chromatin binding|E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.088) CGTCGGCAGGTGGGGGGGCATG 0.619 NA 14 178 --- --- --- --- NA NA NA NA NA ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:187521084_187521085insG uc002upq.2 + 17 1951_1952 c.1675_1676insG c.(1675-1677)AGGfs p.R559fs ITGAV_uc010frs.2_Frame_Shift_Ins_p.R523fs|ITGAV_uc010zfv.1_Frame_Shift_Ins_p.R513fs NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 559 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 Melanoma(58;108 1995 6081) NA 19 710 --- --- --- --- NA NA NA NA NA ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:207460860_207460861insC uc002vbq.2 + 24 2556_2557 c.2333_2334insC c.(2332-2334)CACfs p.H778fs ADAM23_uc010ziv.1_Intron NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 778 Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 Melanoma(194;1127 2130 19620 24042 27855) NA 9 120 --- --- --- --- NA NA NA NA NA CXCR2P1 3580 broad.mit.edu 37 2 218925421 218925421 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:218925421delG uc002vgx.2 - 1 593 c.300delC c.(298-300)CCCfs p.P100fs RUFY4_uc002vgw.2_Intron NR_002712 Homo sapiens interleukin 8 receptor, beta pseudogene, mRNA (cDNA clone IMAGE:5450999), with apparent retained intron. 0 TGCCCCATATGGGCCTTAAAC 0.552 NA 10 349 --- --- --- --- NA NA NA NA NA VIL1 7429 broad.mit.edu 37 2 219301230 219301231 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:219301230_219301231insC uc002via.2 + 16 1917_1918 c.1852_1853insC c.(1852-1854)ACCfs p.T618fs VIL1_uc010zke.1_Frame_Shift_Ins_p.T307fs|VIL1_uc002vib.2_Frame_Shift_Ins_p.T618fs NM_007127 NP_009058 P09327 VILI_HUMAN villin 1 618 Core. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity ovary(1) 1 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCTGGTCATCACCCCCCGGCTC 0.5 NA 12 332 --- --- --- --- NA NA NA NA NA GIGYF2 26058 broad.mit.edu 37 2 233708910 233708912 + In_Frame_Del DEL AGC AGC - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 AGC AGC - - AGC AGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:233708910_233708912delAGC uc002vti.3 + 26 3381_3383 c.3044_3046delAGC c.(3043-3048)AAGCAG>AAG p.Q1022del GIGYF2_uc002vtj.3_In_Frame_Del_p.Q1043del|GIGYF2_uc002vtk.3_In_Frame_Del_p.Q1022del|GIGYF2_uc002vth.3_In_Frame_Del_p.Q1016del|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_In_Frame_Del_p.A864del|GIGYF2_uc002vtq.3_In_Frame_Del_p.Q355del NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 1022 Gln-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) CAAATGCAAAagcagcagcagca 0.365 NA 2 4 --- --- --- --- NA NA NA NA NA INPP5D 3635 broad.mit.edu 37 2 234072358 234072359 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:234072358_234072359insC uc010zmo.1 + 11 1399_1400 c.1246_1247insC c.(1246-1248)GCCfs p.A416fs INPP5D_uc010zmp.1_Frame_Shift_Ins_p.A415fs NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a 416 apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) TGAAGGTAACGCCCCCCCTCCC 0.535 NSCLC(82;1215 1426 16163 20348 41018) NA 9 368 --- --- --- --- NA NA NA NA NA TRPM8 79054 broad.mit.edu 37 2 234879009 234879010 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:234879009_234879010insC uc002vvh.2 + 17 2334_2335 c.2294_2295insC c.(2293-2295)CACfs p.H765fs TRPM8_uc010fyj.2_Intron NM_024080 NP_076985 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, 765 Helical; Name=3; (Potential). integral to membrane skin(4) 4 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCGGTGCCACACCCCCCCGAGC 0.574 NA 13 258 --- --- --- --- NA NA NA NA NA NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr2:240954220_240954221insG uc002vyn.2 - 5 684_685 c.604_605insC c.(604-606)CACfs p.H202fs NDUFA10_uc010fzc.1_Frame_Shift_Ins_p.H242fs|NDUFA10_uc002vyo.1_Frame_Shift_Ins_p.H202fs NM_004544 NP_004535 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1) 1 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 NA 9 218 --- --- --- --- NA NA NA NA NA CST1 1469 broad.mit.edu 37 20 23729753 23729754 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:23729753_23729754insC uc002wtp.2 - 2 312_313 c.241_242insG c.(241-243)GTGfs p.V81fs NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 81 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) GAAGTAATTCACCCCCCCAACG 0.554 NA 9 331 --- --- --- --- NA NA NA NA NA RPN2 6185 broad.mit.edu 37 20 35860725 35860726 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:35860725_35860726insC uc002xgp.2 + 14 1912_1913 c.1608_1609insC c.(1606-1611)AGGCCCfs p.R536fs RPN2_uc002xgq.2_Frame_Shift_Ins_p.R504fs NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 536_537 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTGAGAAGAGGCCCCCCACCGT 0.574 NA 7 716 --- --- --- --- NA NA NA NA NA RPRD1B 58490 broad.mit.edu 37 20 36676873 36676874 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:36676873_36676874insC uc002xho.3 + 3 807_808 c.405_406insC c.(403-408)CCTCCCfs p.P135fs NM_021215 NP_067038 Q9NQG5 RPR1B_HUMAN Regulation of nuclear pre-mRNA domain containing 135_136 pancreas(1) 1 CCAAGAGCCCTCCCCCCAAAGG 0.47 NA 14 361 --- --- --- --- NA NA NA NA NA RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:37146232_37146233insC uc002xiw.2 + 8 1392_1393 c.1135_1136insC c.(1135-1137)ACCfs p.T379fs RALGAPB_uc010zvz.1_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xix.2_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xiy.1_Frame_Shift_Ins_p.T379fs|RALGAPB_uc002xiz.2_Frame_Shift_Ins_p.T157fs|RALGAPB_uc002xja.1_Frame_Shift_Ins_p.T106fs NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 TGTCAGTACCACCCCCCCACAT 0.446 NA 8 124 --- --- --- --- NA NA NA NA NA RALGAPB 57148 broad.mit.edu 37 20 37203484 37203485 + Frame_Shift_Ins INS - - C rs138886522 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:37203484_37203485insC uc002xiw.2 + 30 4616_4617 c.4359_4360insC c.(4357-4362)AGTCCCfs p.S1453fs RALGAPB_uc002xix.2_Frame_Shift_Ins_p.S1450fs|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.2_Frame_Shift_Ins_p.S1232fs NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 1453_1454 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 ACTCCTACAGTCCCCCCCATGT 0.431 NA 10 173 --- --- --- --- NA NA NA NA NA SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:43881730_43881731insG uc002xnm.1 - 3 328_329 c.306_307insC c.(304-309)CCCAATfs p.P102fs NM_003064 NP_003055 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 102_103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 GBM(64;162 1089 31780 33427 34538) NA 14 329 --- --- --- --- NA NA NA NA NA KCNB1 3745 broad.mit.edu 37 20 47989771 47989772 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:47989771_47989772insG uc002xur.1 - 2 2489_2490 c.2325_2326insC c.(2323-2328)CCCAAAfs p.P775fs KCNB1_uc002xus.1_Frame_Shift_Ins_p.P775fs NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 775_776 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGAGGCTTTTGGGGGGGCTGG 0.545 NA 33 720 --- --- --- --- NA NA NA NA NA GNAS 2778 broad.mit.edu 37 20 57478756 57478757 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr20:57478756_57478757insC uc002xzw.2 + 5 2556_2557 c.2271_2272insC c.(2269-2274)GTGCCCfs p.V757fs GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Frame_Shift_Ins_p.V55fs|GNAS_uc002xzx.2_Frame_Shift_Ins_p.V55fs|GNAS_uc010gjr.2_Frame_Shift_Ins_p.V5fs|GNAS_uc002xzy.2_Frame_Shift_Ins_p.V40fs|GNAS_uc002yaa.2_Frame_Shift_Ins_p.V100fs|GNAS_uc010zzt.1_Frame_Shift_Ins_p.V115fs|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Frame_Shift_Ins_p.V5fs|GNAS_uc002yae.2_Frame_Shift_Ins_p.V39fs NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 114_115 P -> L (in AHO). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GCAACCTGGTGCCCCCCGTGGA 0.559 Colon(117;935 1597 6045 8307 46442) NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 8 201 --- --- --- --- NA NA NA NA NA ITSN1 6453 broad.mit.edu 37 21 35122566 35122567 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:35122566_35122567insC uc002yta.1 + 6 733_734 c.465_466insC c.(463-468)GTGCCCfs p.V155fs DONSON_uc002ysn.1_Intron|ITSN1_uc002yth.3_RNA|ITSN1_uc002ysz.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmg.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gmh.2_RNA|ITSN1_uc002ysw.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmi.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gmj.2_Frame_Shift_Ins_p.V39fs|ITSN1_uc002ysy.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ysx.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc002ytb.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ytc.1_Frame_Shift_Ins_p.V155fs|ITSN1_uc002ytd.2_RNA|ITSN1_uc010gmk.2_Frame_Shift_Ins_p.V118fs|ITSN1_uc010gml.2_RNA|ITSN1_uc002ytj.2_Frame_Shift_Ins_p.V155fs|ITSN1_uc010gmm.1_RNA|ITSN1_uc002yte.2_Frame_Shift_Ins_p.V89fs NM_003024 NP_003015 Q15811 ITSN1_HUMAN intersectin 1 isoform ITSN-l 155_156 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity ovary(3)|skin(1) 4 CAGCAGCTGTGCCCCCCCTGGC 0.525 NA 11 297 --- --- --- --- NA NA NA NA NA DSCAM 1826 broad.mit.edu 37 21 41414355 41414356 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:41414355_41414356insG uc002yyq.1 - 32 6080_6081 c.5628_5629insC c.(5626-5631)CCCAAAfs p.P1876fs DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1876_1877 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TCCTGAGGTTTGGGGGGAGATG 0.569 Melanoma(134;970 1778 1785 21664 32388) NA 7 255 --- --- --- --- NA NA NA NA NA DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:41514614_41514615insG uc002yyq.1 - 18 3728_3729 c.3276_3277insC c.(3274-3279)CCCGAAfs p.P1092fs DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1092_1093 Extracellular (Potential).|Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 Melanoma(134;970 1778 1785 21664 32388) NA 23 1211 --- --- --- --- NA NA NA NA NA RSPH1 89765 broad.mit.edu 37 21 43913175 43913176 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:43913175_43913176insC uc002zbg.2 - 2 173_174 c.68_69insG c.(67-69)GGTfs p.G23fs SLC37A1_uc002zbh.1_5'Flank NM_080860 NP_543136 Q8WYR4 RSPH1_HUMAN testis-specific gene A2 23 MORN 1. meiosis cytosol|nucleus ovary(1) 1 CCTCATTCCGACCCCCCTCATA 0.406 Esophageal Squamous(23;63 706 6286 10288 12913) NA 11 595 --- --- --- --- NA NA NA NA NA KRTAP10-5 386680 broad.mit.edu 37 21 46000206 46000207 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr21:46000206_46000207insG uc002zfl.1 - 1 275_276 c.249_250insC c.(247-252)CCCTGCfs p.P83fs C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198694 NP_941967 P60370 KR105_HUMAN keratin associated protein 10-5 83_84 22 X 5 AA repeats of C-C-X(3). keratin filament 0 gcctgctggcagggggaggagg 0.292 NA 10 339 --- --- --- --- NA NA NA NA NA TPST2 8459 broad.mit.edu 37 22 26932298 26932299 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:26932298_26932299insG uc003acv.2 - 3 1164_1165 c.996_997insC c.(994-999)CCCAACfs p.P332fs TPST2_uc003acw.2_Frame_Shift_Ins_p.P332fs|TPST2_uc003acx.2_Frame_Shift_Ins_p.P332fs NM_003595 NP_003586 O60704 TPST2_HUMAN tyrosylprotein sulfotransferase 2 332_333 Lumenal (Potential). peptidyl-tyrosine sulfation endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction protein-tyrosine sulfotransferase activity central_nervous_system(1) 1 TTGCCATAGTTGGGGGGGTTTG 0.584 NA 8 79 --- --- --- --- NA NA NA NA NA THOC5 8563 broad.mit.edu 37 22 29925230 29925231 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:29925230_29925231insG uc003afr.2 - 10 1183 c.848_splice c.e10-1 p.D283_splice THOC5_uc003afq.2_5'Flank|THOC5_uc003afs.2_Splice_Site_p.D283_splice|THOC5_uc003aft.2_Splice_Site_p.D283_splice|THOC5_uc003afu.2_Splice_Site_p.D283_splice|THOC5_uc010gvo.2_Splice_Site_p.N27_splice|THOC5_uc003afv.1_Intron NM_001002878 NP_001002878 Q13769 THOC5_HUMAN THO complex 5 intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex protein binding|RNA binding breast(3) 3 ACGTCTTATCTGGGGGGCAAGA 0.535 NA 7 281 --- --- --- --- NA NA NA NA NA MTMR3 8897 broad.mit.edu 37 22 30408493 30408494 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:30408493_30408494insC uc003agv.3 + 13 1586_1587 c.1258_1259insC c.(1258-1260)ACCfs p.T420fs MTMR3_uc003agu.3_Frame_Shift_Ins_p.T420fs|MTMR3_uc003agw.3_Frame_Shift_Ins_p.T420fs NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 420 Myotubularin phosphatase. phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CTGGGACCGCACCCCCCAGATT 0.545 NA 16 1523 --- --- --- --- NA NA NA NA NA TNRC6B 23112 broad.mit.edu 37 22 40708590 40708591 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:40708590_40708591insG uc011aor.1 + 18 4728_4729 c.4517_4518insG c.(4516-4518)CTGfs p.L1506fs TNRC6B_uc003aym.2_Frame_Shift_Ins_p.L702fs|TNRC6B_uc003ayn.3_Frame_Shift_Ins_p.L1396fs|TNRC6B_uc003ayo.2_Frame_Shift_Ins_p.L1253fs NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1506 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 GGAAGTGTGCTGGGGGGTACAG 0.48 NA 10 1019 --- --- --- --- NA NA NA NA NA TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr22:42610947_42610948insG uc003bcj.1 - 1 498_499 c.364_365insC c.(364-366)CAGfs p.Q122fs TCF20_uc003bck.1_Frame_Shift_Ins_p.Q122fs|TCF20_uc003bnt.2_Frame_Shift_Ins_p.Q122fs NM_005650 NP_005641 Q9UGU0 TCF20_HUMAN transcription factor 20 isoform 1 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(4)|skin(1) 5 GCTGCTCCCCTGGGGGGGTCCA 0.564 NA 14 611 --- --- --- --- NA NA NA NA NA MLH1 4292 broad.mit.edu 37 3 37070348 37070349 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:37070348_37070349insC uc003cgl.2 + 13 1543_1544 c.1483_1484insC c.(1483-1485)ACCfs p.T495fs MLH1_uc011aye.1_Frame_Shift_Ins_p.T254fs|MLH1_uc011ayb.1_Frame_Shift_Ins_p.T254fs|MLH1_uc010hge.2_Frame_Shift_Ins_p.T495fs|MLH1_uc003cgn.3_Frame_Shift_Ins_p.T254fs|MLH1_uc011ayc.1_Frame_Shift_Ins_p.T397fs|MLH1_uc011ayd.1_Frame_Shift_Ins_p.T254fs|MLH1_uc003cgo.2_Frame_Shift_Ins_p.T254fs|MLH1_uc010hgi.1_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgj.1_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgk.2_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgl.1_Frame_Shift_Ins_p.T70fs|MLH1_uc010hgn.2_Frame_Shift_Ins_p.T137fs|MLH1_uc010hgm.2_RNA|MLH1_uc010hgo.2_Frame_Shift_Ins_p.T137fs NM_000249 NP_000240 P40692 MLH1_HUMAN MutL protein homolog 1 495 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.T495A(1)|p.0?(1) large_intestine(40)|haematopoietic_and_lymphoid_tissue(8)|ovary(6)|pancreas(5)|stomach(3)|central_nervous_system(3)|endometrium(3)|breast(3)|prostate(3)|skin(2)|NS(1) 77 TGCAGCTTGTACCCCCCGGAGA 0.47 1 D|Mis|N|F|S colorectal|endometrial|ovarian|CNS colorectal|endometrial|ovarian|CNS MMR Lynch_syndrome|Muir-Torre_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 7 572 --- --- --- --- NA NA NA NA NA TRAK1 22906 broad.mit.edu 37 3 42242449 42242450 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:42242449_42242450insC uc003cky.2 + 12 1546_1547 c.1330_1331insC c.(1330-1332)ACCfs p.T444fs TRAK1_uc011azh.1_Frame_Shift_Ins_p.T444fs|TRAK1_uc011azi.1_Frame_Shift_Ins_p.T444fs|TRAK1_uc003ckz.3_Frame_Shift_Ins_p.T370fs|TRAK1_uc011azj.1_Frame_Shift_Ins_p.T370fs|TRAK1_uc003cla.2_Frame_Shift_Ins_p.T386fs NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN OGT(O-Glc-NAc transferase)-interacting protein 444 Interaction with HGS. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus ovary(1) 1 CTGCGTCAGCACCCCCCGGTCC 0.594 GBM(44;195 884 22595 31865 41850) NA 8 201 --- --- --- --- NA NA NA NA NA PFKFB4 5210 broad.mit.edu 37 3 48573780 48573781 + Frame_Shift_Ins INS - - G rs142200739 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:48573780_48573781insG uc003ctv.2 - 8 765_766 c.748_749insC c.(748-750)CGCfs p.R250fs PFKFB4_uc003ctw.2_Frame_Shift_Ins_p.R59fs|PFKFB4_uc010hkc.2_Frame_Shift_Ins_p.R250fs|PFKFB4_uc003ctx.2_Frame_Shift_Ins_p.R207fs|PFKFB4_uc010hkb.2_Frame_Shift_Ins_p.R250fs|PFKFB4_uc011bbm.1_Frame_Shift_Ins_p.R239fs|PFKFB4_uc011bbn.1_RNA NM_004567 NP_004558 Q16877 F264_HUMAN 6-phosphofructo-2-kinase/fructose-2, 250 Fructose-2,6-bisphosphatase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity breast(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) GTAGATGGAGCGGGGGGTCACG 0.619 NA 12 610 --- --- --- --- NA NA NA NA NA RBM6 10180 broad.mit.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G rs141234052 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:50005144_50005145insG uc003cyc.2 + 3 419_420 c.286_287insG c.(286-288)AGGfs p.R96fs RBM6_uc011bdh.1_RNA|RBM6_uc010hlc.1_Intron|RBM6_uc003cyd.2_Intron|RBM6_uc003cye.2_Intron|RBM6_uc011bdi.1_Intron|RBM6_uc010hld.1_Intron|RBM6_uc010hle.1_Intron|RBM6_uc010hlf.1_Intron NM_005777 NP_005768 P78332 RBM6_HUMAN RNA binding motif protein 6 96 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGATTTCAGGGGGGGAGAT 0.495 NA 7 221 --- --- --- --- NA NA NA NA NA KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:58486771_58486772insG uc003dkj.3 + 3 243_244 c.126_127insG c.(124-129)TTTGGGfs p.F42fs KCTD6_uc003dki.3_Frame_Shift_Ins_p.F42fs|KCTD6_uc003dkk.3_Frame_Shift_Ins_p.F42fs NM_001128214 NP_001121686 Q8NC69 KCTD6_HUMAN potassium channel tetramerisation domain 42_43 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity skin(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 NA 15 353 --- --- --- --- NA NA NA NA NA ATXN7 6314 broad.mit.edu 37 3 63981831 63981832 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:63981831_63981832insC uc003dlw.3 + 12 2886_2887 c.2333_2334insC c.(2332-2334)GGCfs p.G778fs ATXN7_uc003dlv.2_Frame_Shift_Ins_p.G778fs|ATXN7_uc010hnv.2_Frame_Shift_Ins_p.G778fs|ATXN7_uc011bfn.1_Frame_Shift_Ins_p.G633fs NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 778 Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TCAGGGAGGGGCCCCCCCACCG 0.545 NA 10 167 --- --- --- --- NA NA NA NA NA KIAA2018 205717 broad.mit.edu 37 3 113375177 113375178 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:113375177_113375178insG uc003eam.2 - 7 5762_5763 c.5351_5352insC c.(5350-5352)CCAfs p.P1784fs KIAA2018_uc003eal.2_Frame_Shift_Ins_p.P1728fs NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 1784 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 GGTCAATTGGTGGGGGGCCAGT 0.426 NA 7 587 --- --- --- --- NA NA NA NA NA IGSF11 152404 broad.mit.edu 37 3 118647520 118647521 + Frame_Shift_Ins INS - - G rs145433873 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:118647520_118647521insG uc003ebw.2 - 3 506_507 c.259_260insC c.(259-261)CGGfs p.R87fs IGSF11_uc011biv.1_Frame_Shift_Ins_p.R87fs|IGSF11_uc003ebx.2_Frame_Shift_Ins_p.R87fs|IGSF11_uc003eby.2_Frame_Shift_Ins_p.R86fs|IGSF11_uc003ebz.2_Frame_Shift_Ins_p.R86fs|IGSF11_uc010hqs.2_Frame_Shift_Ins_p.R86fs NM_001015887 NP_001015887 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 isoform b 87 Ig-like V-type.|Extracellular (Potential). cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity 0 ACCGTGGAACCGGGGGGCACCA 0.465 NA 7 660 --- --- --- --- NA NA NA NA NA GPR156 165829 broad.mit.edu 37 3 119885959 119885960 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:119885959_119885960insC uc011bjf.1 - 9 2364_2365 c.2364_2365insG c.(2362-2367)GGGCTGfs p.G788fs GPR156_uc011bjg.1_Frame_Shift_Ins_p.G784fs NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 788_789 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.19) CAGGAAGCCAGCCCCCCAGTAG 0.55 NA 7 411 --- --- --- --- NA NA NA NA NA GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:141535707_141535708insG uc011bnd.1 + 4 1561_1562 c.1477_1478insG c.(1477-1479)CGGfs p.R493fs NM_139209 NP_631948 Q8WTQ7 GRK7_HUMAN G-protein-coupled receptor kinase 7 precursor 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(2)|stomach(1)|ovary(1)|skin(1) 5 CTCTGAGGTTCGGGGGGTGGAA 0.46 NA 11 826 --- --- --- --- NA NA NA NA NA MED12L 116931 broad.mit.edu 37 3 150877785 150877786 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:150877785_150877786insC uc003eyp.2 + 7 1042_1043 c.1004_1005insC c.(1003-1005)GGCfs p.G335fs MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Frame_Shift_Ins_p.G335fs|MED12L_uc003eyo.2_Frame_Shift_Ins_p.G335fs NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 335 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CCCAGCCCTGGCCCCCCCGGCC 0.584 NA 8 105 --- --- --- --- NA NA NA NA NA GOLIM4 27333 broad.mit.edu 37 3 167728581 167728581 + Frame_Shift_Del DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:167728581delT uc003ffe.2 - 15 2235 c.1891delA c.(1891-1893)AGGfs p.R631fs GOLIM4_uc011bpe.1_Frame_Shift_Del_p.R632fs|GOLIM4_uc011bpf.1_Frame_Shift_Del_p.R604fs|GOLIM4_uc011bpg.1_Frame_Shift_Del_p.R603fs NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 631 Glu-rich.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TCCAGTTCCCTTTTTTTCTCT 0.358 NA 10 567 --- --- --- --- NA NA NA NA NA SAMD7 344658 broad.mit.edu 37 3 169646267 169646268 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:169646267_169646268insG uc003fgd.2 + 7 1209_1210 c.942_943insG c.(940-945)ATTGGGfs p.I314fs SAMD7_uc003fge.2_Frame_Shift_Ins_p.I314fs|SAMD7_uc011bpo.1_Frame_Shift_Ins_p.I215fs NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 314_315 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGTTACAATTGGGGGGAATCT 0.381 NA 8 531 --- --- --- --- NA NA NA NA NA FNDC3B 64778 broad.mit.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:172096209_172096210insC uc003fhy.2 + 24 3330_3331 c.3158_3159insC c.(3157-3159)GTCfs p.V1053fs FNDC3B_uc003fhz.3_Frame_Shift_Ins_p.V1053fs NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1053 endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACCAAAAGTGTCCCCCCCACCA 0.47 NA 7 182 --- --- --- --- NA NA NA NA NA TBL1XR1 79718 broad.mit.edu 37 3 176769341 176769342 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:176769341_176769342insT uc003fiw.3 - 5 637_638 c.377_378insA c.(376-378)AATfs p.N126fs TBL1XR1_uc003fix.3_Frame_Shift_Ins_p.N126fs|TBL1XR1_uc011bpz.1_Translation_Start_Site|TBL1XR1_uc003fiy.2_Frame_Shift_Ins_p.N126fs NM_024665 NP_078941 Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 126 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding ovary(1) 1 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) TGTTTTCTCCATTTTTTGCAGA 0.416 NA 7 208 --- --- --- --- NA NA NA NA NA ABCC5 10057 broad.mit.edu 37 3 183700629 183700630 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:183700629_183700630insC uc003fmg.2 - 6 922_923 c.757_758insG c.(757-759)GCCfs p.A253fs ABCC5_uc011bqt.1_5'UTR|ABCC5_uc010hxl.2_Frame_Shift_Ins_p.A253fs NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 253 ABC transmembrane type-1 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGTTAGGATGGCCCCCCGCAAG 0.515 NA 7 331 --- --- --- --- NA NA NA NA NA FETUB 26998 broad.mit.edu 37 3 186370136 186370137 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:186370136_186370137insC uc010hyq.2 + 8 1126_1127 c.865_866insC c.(865-867)ACCfs p.T289fs FETUB_uc011brz.1_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqn.2_Frame_Shift_Ins_p.T289fs|FETUB_uc003fqo.2_Frame_Shift_Ins_p.T184fs|FETUB_uc010hyr.2_Frame_Shift_Ins_p.T252fs|FETUB_uc010hys.2_Frame_Shift_Ins_p.T141fs|FETUB_uc003fqp.3_Frame_Shift_Ins_p.T224fs NM_014375 NP_055190 Q9UGM5 FETUB_HUMAN fetuin B precursor 289 extracellular space cysteine-type endopeptidase inhibitor activity ovary(1)|lung(1) 2 all_cancers(143;6.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.73e-20) GBM - Glioblastoma multiforme(93;0.0479) GCAGAAAAACACCCCCCCAACA 0.495 NA 22 305 --- --- --- --- NA NA NA NA NA KIAA0226 9711 broad.mit.edu 37 3 197427914 197427915 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr3:197427914_197427915insG uc003fyc.2 - 7 1013_1014 c.830_831insC c.(829-831)CCAfs p.P277fs KIAA0226_uc003fyd.3_Frame_Shift_Ins_p.P217fs|KIAA0226_uc003fye.1_5'UTR|KIAA0226_uc003fyf.2_Frame_Shift_Ins_p.P110fs|KIAA0226_uc003fyg.2_Frame_Shift_Ins_p.P270fs NM_014687 NP_055502 Q92622 RUBIC_HUMAN hypothetical protein LOC9711 isoform 2. 277 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding 0 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AGACTGAAACTGGGGGGGCTTG 0.554 Esophageal Squamous(3;167 355 3763 15924) NA 7 214 --- --- --- --- NA NA NA NA NA EVC 2121 broad.mit.edu 37 4 5785361 5785362 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:5785361_5785362insC uc003gil.1 + 12 1830_1831 c.1646_1647insC c.(1645-1647)CTCfs p.L549fs EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 549 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) ATGACTGGCCTCCCCCCGGAAG 0.584 NA 12 670 --- --- --- --- NA NA NA NA NA STIM2 57620 broad.mit.edu 37 4 27019446 27019447 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:27019446_27019447insC uc003gsh.3 + 12 2104_2105 c.1888_1889insC c.(1888-1890)GCCfs p.A630fs STIM2_uc003gsg.3_Frame_Shift_Ins_p.A622fs|STIM2_uc010iex.2_Frame_Shift_Ins_p.A622fs|STIM2_uc010iey.2_Frame_Shift_Ins_p.A246fs NM_020860 NP_065911 Q9P246 STIM2_HUMAN stromal interaction molecule 2 535 Cytoplasmic (Potential).|His/Pro-rich. activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium channel regulator activity|calcium ion binding|protein binding central_nervous_system(1)|skin(1) 2 Breast(46;0.0503) TGCTCCACACGCCCCCCACCCG 0.619 NA 7 509 --- --- --- --- NA NA NA NA NA FRAS1 80144 broad.mit.edu 37 4 79173612 79173613 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:79173612_79173613insC uc003hlb.2 + 5 816_817 c.376_377insC c.(376-378)ACCfs p.T126fs FRAS1_uc003hkw.2_Frame_Shift_Ins_p.T126fs|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.2_5'Flank NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 126 VWFC 2.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 AGTCCGATGTACCCCCCAACCA 0.525 NA 12 385 --- --- --- --- NA NA NA NA NA WDFY3 23001 broad.mit.edu 37 4 85611708 85611709 + Frame_Shift_Del DEL CA CA - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 CA CA - - CA CA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:85611708_85611709delCA uc003hpd.2 - 61 9721_9722 c.9313_9314delTG c.(9313-9315)TGGfs p.W3105fs NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 isoform 3105 WD 1. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GCCCATCTCCCACACACACACA 0.51 NA 9 425 --- --- --- --- NA NA NA NA NA ABCG2 9429 broad.mit.edu 37 4 89052270 89052271 + Frame_Shift_Ins INS - - T rs150450599 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:89052270_89052271insT uc003hrg.2 - 5 966_967 c.473_474insA c.(472-474)AACfs p.N158fs ABCG2_uc003hrh.2_Frame_Shift_Ins_p.N158fs|ABCG2_uc003hrf.2_Frame_Shift_Ins_p.N28fs NM_004827 NP_004818 Q9UNQ0 ABCG2_HUMAN ATP-binding cassette, sub-family G, member 2 158 ABC transporter.|Cytoplasmic (Potential). cellular iron ion homeostasis|urate metabolic process integral to membrane|plasma membrane ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.02e-05) Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030) TAATCCGTTCGTTTTTTTCATG 0.426 NA 9 1129 --- --- --- --- NA NA NA NA NA HPGDS 27306 broad.mit.edu 37 4 95223320 95223321 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:95223320_95223321insC uc003hte.1 - 5 502_503 c.411_412insG c.(409-414)GGGAGAfs p.G137fs NM_014485 NP_055300 O60760 HPGDS_HUMAN prostaglandin D2 synthase, hematopoietic 137_138 GST C-terminal. locomotory behavior|prostaglandin biosynthetic process|signal transduction cytoplasm|nucleus calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity ovary(1) 1 Glutathione(DB00143) AGCCATTCTCTCCCCCCTAAAT 0.351 Colon(86;1802 1843 17863 46794) NA 11 1050 --- --- --- --- NA NA NA NA NA UNC5C 8633 broad.mit.edu 37 4 96140293 96140294 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:96140293_96140294insG uc003htp.1 - 9 1625_1626 c.1471_1472insC c.(1471-1473)CAAfs p.Q491fs UNC5C_uc010ilc.1_Frame_Shift_Ins_p.Q510fs|UNC5C_uc003htq.2_Frame_Shift_Ins_p.Q510fs NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 491 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GAGGTCATCTTGGGGGGTGACA 0.505 NA 7 552 --- --- --- --- NA NA NA NA NA CFI 3426 broad.mit.edu 37 4 110662158 110662159 + Frame_Shift_Ins INS - - C rs7437875 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:110662158_110662159insC uc003hzr.3 - 13 1850_1851 c.1642_1643insG c.(1642-1644)GAAfs p.E548fs CFI_uc003hzq.2_Frame_Shift_Ins_p.E345fs|CFI_uc011cft.1_Frame_Shift_Ins_p.E556fs|CFI_uc003hzs.3_Frame_Shift_Ins_p.E541fs NM_000204 NP_000195 P05156 CFAI_HUMAN complement factor I preproprotein 548 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular space|membrane scavenger receptor activity|serine-type endopeptidase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000331) TCCACAGTTTTCCCCCCAACTC 0.465 NA 14 566 --- --- --- --- NA NA NA NA NA RRH 10692 broad.mit.edu 37 4 110763720 110763721 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:110763720_110763721insC uc003hzv.2 + 6 850_851 c.816_817insC c.(814-819)CCTCCCfs p.P272fs NM_006583 NP_006574 O14718 OPSX_HUMAN peropsin 272_273 Helical; Name=7; (Potential). phototransduction|protein-chromophore linkage|visual perception integral to plasma membrane G-protein coupled receptor activity|photoreceptor activity ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00109) AGAAGATTCCTCCCCCCATGGC 0.416 NA 8 585 --- --- --- --- NA NA NA NA NA ANKRD50 57182 broad.mit.edu 37 4 125590618 125590619 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:125590618_125590619insC uc003ifg.3 - 3 4079_4080 c.3813_3814insG c.(3811-3816)GGGAAAfs p.G1271fs ANKRD50_uc011cgo.1_Frame_Shift_Ins_p.G1092fs|ANKRD50_uc010inw.2_Frame_Shift_Ins_p.G1271fs NM_020337 NP_065070 Q9ULJ7 ANR50_HUMAN ankyrin repeat domain 50 1271_1272 Ser-rich. central_nervous_system(1) 1 TTTTCTGATTTCCCCCCTTTAC 0.391 NA 11 650 --- --- --- --- NA NA NA NA NA SETD7 80854 broad.mit.edu 37 4 140432891 140432892 + Frame_Shift_Ins INS - - G rs35259575 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:140432891_140432892insG uc003ihw.2 - 8 1312_1313 c.1026_1027insC c.(1024-1029)CCCGGGfs p.P342fs NM_030648 NP_085151 Q8WTS6 SETD7_HUMAN SET domain-containing protein 7 342_343 peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.156) CCACTCTTCCCGGGGGGGCTGT 0.609 NA 13 136 --- --- --- --- NA NA NA NA NA SH3D19 152503 broad.mit.edu 37 4 152095943 152095944 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:152095943_152095944insG uc010ipl.1 - 7 1662_1663 c.572_573insC c.(571-573)CCAfs p.P191fs SH3D19_uc003imc.2_Frame_Shift_Ins_p.P191fs|SH3D19_uc003ime.2_Frame_Shift_Ins_p.P191fs|SH3D19_uc010ipm.2_Frame_Shift_Ins_p.P191fs NM_001009555 NP_001009555 Q5HYK7 SH319_HUMAN SH3 domain containing 19 isoform a 191 Pro-rich. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding ovary(1)|skin(1) 2 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GAACTGGAACTGGGGGGTTGGC 0.559 NA 7 909 --- --- --- --- NA NA NA NA NA FGG 2266 broad.mit.edu 37 4 155526058 155526059 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:155526058_155526059insC uc003ioj.2 - 9 1430_1431 c.1289_1290insG c.(1288-1290)GGAfs p.G430fs FGG_uc003iog.2_Frame_Shift_Ins_p.G430fs|FGG_uc003ioh.2_Frame_Shift_Ins_p.G438fs|FGG_uc010ipx.2_Frame_Shift_Ins_p.G258fs|FGG_uc010ipy.2_Frame_Shift_Ins_p.G141fs|FGG_uc003ioi.2_Frame_Shift_Ins_p.G141fs|FGG_uc003iok.2_Frame_Shift_Ins_p.G438fs NM_021870 NP_068656 P02679 FIBG_HUMAN fibrinogen, gamma chain isoform gamma-B 430 Platelet aggregation and Staphylococcus clumping. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding 0 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CCTGTTTGGCTCCCCCCAGGTG 0.45 NA 10 697 --- --- --- --- NA NA NA NA NA ODZ3 55714 broad.mit.edu 37 4 183609358 183609359 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:183609358_183609359insG uc003ivd.1 + 11 2112_2113 c.2075_2076insG c.(2074-2076)ATGfs p.M692fs ODZ3_uc003ive.1_Frame_Shift_Ins_p.M98fs NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 692 Extracellular (Potential).|EGF-like 6. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGCGTTTGCATGGGGGGGACGT 0.589 NA 20 494 --- --- --- --- NA NA NA NA NA SORBS2 8470 broad.mit.edu 37 4 186515043 186515044 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:186515043_186515044insC uc003iyl.2 - 19 3988_3989 c.3130_3131insG c.(3130-3132)GAAfs p.E1044fs SORBS2_uc003iyh.2_Frame_Shift_Ins_p.E768fs|SORBS2_uc011ckw.1_Frame_Shift_Ins_p.E605fs|SORBS2_uc003iyi.2_Frame_Shift_Ins_p.E675fs|SORBS2_uc011ckx.1_Frame_Shift_Ins_p.E610fs|SORBS2_uc003iyk.2_Frame_Shift_Ins_p.E588fs|SORBS2_uc003iym.2_Frame_Shift_Ins_p.E1144fs|SORBS2_uc003iyn.1_Frame_Shift_Ins_p.E635fs|SORBS2_uc011cku.1_Frame_Shift_Ins_p.E436fs|SORBS2_uc011ckv.1_Frame_Shift_Ins_p.E948fs|SORBS2_uc003iyd.2_Frame_Shift_Ins_p.E743fs|SORBS2_uc003iye.2_Frame_Shift_Ins_p.E617fs|SORBS2_uc003iya.2_Frame_Shift_Ins_p.E564fs|SORBS2_uc003iyb.2_Frame_Shift_Ins_p.E517fs|SORBS2_uc003iyc.2_Frame_Shift_Ins_p.E497fs|SORBS2_uc003iyg.2_Frame_Shift_Ins_p.E1158fs|SORBS2_uc003iyf.2_Frame_Shift_Ins_p.E580fs NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 1044 SH3 3. actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TACTTACGGTTCCCCCCCACCT 0.356 Esophageal Squamous(153;41 2433 9491 36028) NA 8 167 --- --- --- --- NA NA NA NA NA TLR3 7098 broad.mit.edu 37 4 186997804 186997805 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr4:186997804_186997805insG uc003iyq.2 + 2 132_133 c.31_32insG c.(31-33)TGGfs p.W11fs NM_003265 NP_003256 O15455 TLR3_HUMAN toll-like receptor 3 precursor 11 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane double-stranded RNA binding|transmembrane receptor activity ovary(2)|prostate(1)|lung(1)|breast(1) 5 all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16) TATCTACTTTTGGGGGGGCCTT 0.446 NA 7 252 --- --- --- --- NA NA NA NA NA C7 730 broad.mit.edu 37 5 40931243 40931243 + Splice_Site DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:40931243delT uc003jmh.2 + 3 252 c.138_splice c.e3+2 p.Q46_splice C7_uc011cpn.1_Splice_Site NM_000587 NP_000578 P10643 CO7_HUMAN complement component 7 precursor complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex 0 Ovarian(839;0.0112) AAGACTCAGGTAGGACCATGC 0.408 NA 45 119 --- --- --- --- NA NA NA NA NA C6 729 broad.mit.edu 37 5 41159256 41159257 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:41159256_41159257insG uc003jmk.2 - 12 1993_1994 c.1783_1784insC c.(1783-1785)CAAfs p.Q595fs C6_uc003jml.1_Frame_Shift_Ins_p.Q595fs NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 595 TSP type-1 3. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CCCTCCTCGTTGGGGGGCAGGA 0.5 NA 7 413 --- --- --- --- NA NA NA NA NA C6 729 broad.mit.edu 37 5 41181559 41181560 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:41181559_41181560insC uc003jmk.2 - 7 1038_1039 c.828_829insG c.(826-831)GGGAGCfs p.G276fs C6_uc003jml.1_Frame_Shift_Ins_p.G276fs NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 276_277 MACPF. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) CTGAAAGAGCTCCCCCCCTGAC 0.376 NA 10 299 --- --- --- --- NA NA NA NA NA MOCS2 4338 broad.mit.edu 37 5 52402939 52402940 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:52402939_52402940insG uc011cqf.1 - 3 291_292 c.252_253insC c.(250-255)CCCATTfs p.P84fs MOCS2_uc003joz.2_Frame_Shift_Ins_p.P22fs|uc003jpb.1_5'Flank NM_176806 NP_789776 O96033 MOC2A_HUMAN molybdopterin synthase small subunit MOCS2A 84_85 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex nucleotide binding 0 Lung NSC(810;3.08e-05)|Breast(144;0.0848) CCTCCACTAATGGGGGGGATAA 0.426 NA 7 151 --- --- --- --- NA NA NA NA NA MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:71495076_71495077insC uc003kbw.3 + 5 6135_6136 c.5894_5895insC c.(5893-5895)AGCfs p.S1965fs MAP1B_uc010iyw.1_Frame_Shift_Ins_p.S1982fs|MAP1B_uc010iyx.1_Frame_Shift_Ins_p.S1839fs|MAP1B_uc010iyy.1_Frame_Shift_Ins_p.S1839fs NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 MAP1B 6. microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 Melanoma(17;367 822 11631 31730 47712) NA 14 440 --- --- --- --- NA NA NA NA NA PCSK1 5122 broad.mit.edu 37 5 95746639 95746640 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:95746639_95746640insC uc003kls.1 - 8 1139_1140 c.933_934insG c.(931-936)GGGCGTfs p.G311fs PCSK1_uc010jbi.1_Intron NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 311_312 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTCCCTGACGCCCCCCGTTTC 0.53 NA 7 408 --- --- --- --- NA NA NA NA NA CHD1 1105 broad.mit.edu 37 5 98193965 98193966 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:98193965_98193966insT uc003knf.2 - 34 4853_4854 c.4705_4706insA c.(4705-4707)AGTfs p.S1569fs CHD1_uc010jbn.2_Frame_Shift_Ins_p.S295fs NM_001270 NP_001261 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 1569 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding lung(2)|ovary(1)|breast(1)|pancreas(1) 5 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CCTGGAATCACTTTTTTTGTAA 0.406 NA 7 754 --- --- --- --- NA NA NA NA NA FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:127610310_127610311insC uc003kuu.2 - 60 8098_8099 c.7659_7660insG c.(7657-7662)GGGTTTfs p.G2553fs NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2553_2554 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTACAGGTAAACCCCCCCAGGG 0.421 NA 7 439 --- --- --- --- NA NA NA NA NA FBN2 2201 broad.mit.edu 37 5 127648336 127648337 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:127648336_127648337insG uc003kuu.2 - 37 5307_5308 c.4868_4869insC c.(4867-4869)CCTfs p.P1623fs NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1623 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCTATTGACAGGGGGGCATGT 0.505 NA 9 1132 --- --- --- --- NA NA NA NA NA ARAP3 64411 broad.mit.edu 37 5 141051692 141051693 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:141051692_141051693insC uc003llm.2 - 10 1639_1640 c.1561_1562insG c.(1561-1563)GTGfs p.V521fs ARAP3_uc011dbe.1_Frame_Shift_Ins_p.V183fs|ARAP3_uc003lln.2_Frame_Shift_Ins_p.V443fs|ARAP3_uc003llo.1_Frame_Shift_Ins_p.V521fs NM_022481 NP_071926 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 521 Arf-GAP.|C4-type. cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding breast(5)|ovary(1)|large_intestine(1) 7 GCAGATGACCACCCCCAAATTG 0.604 NA 8 1085 --- --- --- --- NA NA NA NA NA FAT2 2196 broad.mit.edu 37 5 150922939 150922940 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr5:150922939_150922940insG uc003lue.3 - 9 7761_7762 c.7748_7749insC c.(7747-7749)CCAfs p.P2583fs GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2583 Extracellular (Potential).|Cadherin 22. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTTGAACTGTGGGGGGTTGTC 0.47 NA 8 438 --- --- --- --- NA NA NA NA NA EXOC2 55770 broad.mit.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:637793_637794insG uc003mtd.2 - 2 159_160 c.25_26insC c.(25-27)CTTfs p.L9fs EXOC2_uc003mte.2_Frame_Shift_Ins_p.L9fs|EXOC2_uc011dho.1_Intron NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 9 IPT/TIG. exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GCCGGTCACAAGGGGGGGTTGT 0.485 NA 10 261 --- --- --- --- NA NA NA NA NA PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:13206134_13206135insG uc010jpc.2 + 8 1084_1085 c.752_753insG c.(751-753)GTGfs p.V251fs PHACTR1_uc011dir.1_Frame_Shift_Ins_p.V320fs|PHACTR1_uc003nag.1_Frame_Shift_Ins_p.V251fs|PHACTR1_uc003nah.1_Frame_Shift_Ins_p.V251fs NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 NA 16 328 --- --- --- --- NA NA NA NA NA KIF13A 63971 broad.mit.edu 37 6 17837307 17837308 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:17837307_17837308insC uc003ncg.3 - 11 1061_1062 c.956_957insG c.(955-957)GGCfs p.G319fs KIF13A_uc003ncf.2_Frame_Shift_Ins_p.G319fs|KIF13A_uc003nch.3_Frame_Shift_Ins_p.G319fs|KIF13A_uc003nci.3_Frame_Shift_Ins_p.G319fs|KIF13A_uc003ncj.2_5'UTR NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 319 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TTTGGCTGTTGCCCCCCAAGTT 0.45 NA 9 225 --- --- --- --- NA NA NA NA NA DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:24205282_24205283insC uc003ndx.2 - 8 1272_1273 c.970_971insG c.(970-972)GCAfs p.A324fs DCDC2_uc003ndy.2_Frame_Shift_Ins_p.A324fs|DCDC2_uc003ndw.2_Frame_Shift_Ins_p.A75fs NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration ovary(1) 1 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 NA 38 2550 --- --- --- --- NA NA NA NA NA C6orf134 79969 broad.mit.edu 37 6 30610713 30610714 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:30610713_30610714insC uc003nqu.2 + 10 943_944 c.893_894insC c.(892-894)TGCfs p.C298fs C6orf134_uc003nqr.3_Frame_Shift_Ins_p.C298fs|C6orf134_uc003rdc.2_Frame_Shift_Ins_p.C298fs|C6orf134_uc003nqs.3_Frame_Shift_Ins_p.C275fs|C6orf134_uc003rdd.2_Frame_Shift_Ins_p.C275fs|C6orf134_uc003nqt.2_Intron|C6orf134_uc011dmm.1_Frame_Shift_Ins_p.C263fs|C6orf134_uc003nqv.2_Frame_Shift_Ins_p.C286fs NM_024909 NP_079185 Q5SQI0 ATAT_HUMAN hypothetical protein LOC79969 isoform 2 298 tubulin N-acetyltransferase activity 0 TTGCGCCTCTGCCCCCCACACC 0.658 NA 7 244 --- --- --- --- NA NA NA NA NA BAT1 7919 broad.mit.edu 37 6 31500690 31500691 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:31500690_31500691insG uc003ntt.2 - 7 1367 c.736_splice c.e7-1 p.P246_splice BAT1_uc003ntq.2_5'Flank|BAT1_uc003ntr.2_Frame_Shift_Ins_p.Q52fs|BAT1_uc003nts.2_Splice_Site_p.P246_splice|BAT1_uc011dnn.1_Splice_Site_p.P168_splice|BAT1_uc003ntu.2_Splice_Site_p.P246_splice|BAT1_uc003ntv.2_Splice_Site_p.P246_splice NM_004640 NP_004631 Q13838 DX39B_HUMAN HLA-B associated transcript 1 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding 0 CTCCATTGGCTgggggggagga 0.396 NA 9 114 --- --- --- --- NA NA NA NA NA HLA-DOA 3111 broad.mit.edu 37 6 32975278 32975279 + Frame_Shift_Ins INS - - G rs115076830 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:32975278_32975279insG uc003ocr.2 - 3 498_499 c.422_423insC c.(421-423)CCTfs p.P141fs HLA-DOA_uc010juj.2_Frame_Shift_Ins_p.P111fs|HLA-DOA_uc010jui.2_Frame_Shift_Ins_p.P141fs NM_002119 NP_002110 P06340 DOA_HUMAN major histocompatibility complex, class II, DO 141 Extracellular (Potential).|Alpha-2.|Ig-like C1-type. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity 0 TATTGATCACAGGGGGGAAGAT 0.584 NA 7 688 --- --- --- --- NA NA NA NA NA VPS52 6293 broad.mit.edu 37 6 33219719 33219720 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:33219719_33219720insG uc003odm.1 - 18 2033_2034 c.1823_1824insC c.(1822-1824)CCTfs p.P608fs VPS52_uc003odn.1_Frame_Shift_Ins_p.P419fs NM_022553 NP_072047 Q8N1B4 VPS52_HUMAN vacuolar protein sorting 52 608 protein transport endosome membrane|Golgi apparatus ovary(4)|skin(1) 5 AACCCCCAAAAGGGGGAGACAG 0.48 NA 31 187 --- --- --- --- NA NA NA NA NA MAPK14 1432 broad.mit.edu 37 6 36068005 36068006 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:36068005_36068006insC uc003olp.2 + 9 1204_1205 c.723_724insC c.(721-726)ACACCCfs p.T241fs MAPK14_uc003olo.2_Intron|MAPK14_uc003olq.2_Intron|MAPK14_uc003olr.2_Intron|MAPK14_uc011dti.1_Intron NM_001315 NP_001306 Q16539 MK14_HUMAN mitogen-activated protein kinase 14 isoform 1 241_242 Protein kinase. activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding ovary(2)|stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 6 TGACAGGAACACCCCCCGCTTA 0.426 Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610) NA 16 517 --- --- --- --- NA NA NA NA NA TRERF1 55809 broad.mit.edu 37 6 42237162 42237163 + Frame_Shift_Ins INS - - G rs140151920 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:42237162_42237163insG uc003osd.2 - 5 729_730 c.166_167insC c.(166-168)CACfs p.H56fs TRERF1_uc011duq.1_Frame_Shift_Ins_p.H56fs|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003ose.2_Frame_Shift_Ins_p.H56fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 56 cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) TTGAGGGAAGTGGGGGGAGATT 0.589 NA 7 178 --- --- --- --- NA NA NA NA NA PTK7 5754 broad.mit.edu 37 6 43111195 43111196 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:43111195_43111196insC uc003oub.1 + 14 2286_2287 c.2088_2089insC c.(2086-2091)CCTCCCfs p.P696fs PTK7_uc003ouc.1_Frame_Shift_Ins_p.P640fs|PTK7_uc003oud.1_Frame_Shift_Ins_p.P656fs|PTK7_uc003oue.1_Frame_Shift_Ins_p.P566fs|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Frame_Shift_Ins_p.P704fs|PTK7_uc010jyj.1_Intron NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 696_697 Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) CTGGCAGCCCTCCCCCCTACAA 0.604 NA OREG0017450 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 205 --- --- --- --- NA NA NA NA NA TNFRSF21 27242 broad.mit.edu 37 6 47253988 47253989 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:47253988_47253989insG uc003oyv.2 - 2 872_873 c.439_440insC c.(439-441)CATfs p.H147fs NM_014452 NP_055267 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, 147 Extracellular (Potential).|TNFR-Cys 3. cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity 0 Lung(136;0.189) ACACACCGTATGGGGGGCACAG 0.554 NA 9 765 --- --- --- --- NA NA NA NA NA HCRTR2 3062 broad.mit.edu 37 6 55039410 55039411 + Frame_Shift_Ins INS - - C rs76774128 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:55039410_55039411insC uc003pcl.2 + 1 340_341 c.25_26insC c.(25-27)TCCfs p.S9fs HCRTR2_uc010jzv.2_RNA|HCRTR2_uc010jzu.1_RNA NM_001526 NP_001517 O43614 OX2R_HUMAN orexin receptor 2 9 Extracellular (Potential). feeding behavior integral to plasma membrane neuropeptide receptor activity ovary(2)|lung(2)|upper_aerodigestive_tract(1)|breast(1) 6 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) ATTGGAGGACTCCCCCCCTTGT 0.564 NA 10 234 --- --- --- --- NA NA NA NA NA HTR1E 3354 broad.mit.edu 37 6 87725846 87725847 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:87725846_87725847insC uc003pli.2 + 2 1497_1498 c.794_795insC c.(793-795)ATCfs p.I265fs NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 265 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) TCCATCAGGATCCCCCCCTTCG 0.51 NA 8 401 --- --- --- --- NA NA NA NA NA WASF1 8936 broad.mit.edu 37 6 110423338 110423339 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:110423338_110423339insG uc003ptv.1 - 10 1811_1812 c.974_975insC c.(973-975)CCAfs p.P325fs WASF1_uc003ptw.1_Frame_Shift_Ins_p.P325fs|WASF1_uc003ptx.1_Frame_Shift_Ins_p.P325fs|WASF1_uc003pty.1_Frame_Shift_Ins_p.P325fs NM_003931 NP_003922 Q92558 WASF1_HUMAN Wiskott-Aldrich syndrome protein family member 325 Poly-Pro. actin filament polymerization|cellular component movement actin cytoskeleton actin binding 0 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) GTGGAGGAGGTGGGGGAGTGGG 0.52 NA 7 754 --- --- --- --- NA NA NA NA NA REV3L 5980 broad.mit.edu 37 6 111693903 111693904 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:111693903_111693904insG uc003puy.3 - 13 5977_5978 c.5654_5655insC c.(5653-5655)CCAfs p.P1885fs REV3L_uc003pux.3_Frame_Shift_Ins_p.P1807fs|REV3L_uc003puz.3_Frame_Shift_Ins_p.P1807fs NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 1885 Mediates interaction with MAD2L2. DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CTTCCCTACTTGGGGGGGACAT 0.431 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 34 550 --- --- --- --- NA NA NA NA NA RFX6 222546 broad.mit.edu 37 6 117250016 117250017 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:117250016_117250017insC uc003pxm.2 + 18 2556_2557 c.2493_2494insC c.(2491-2496)CTGCCCfs p.L831fs NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 831_832 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 TTCGTTCACTGCCCCCCTACAG 0.455 NA 7 311 --- --- --- --- NA NA NA NA NA UTRN 7402 broad.mit.edu 37 6 144782471 144782471 + Frame_Shift_Del DEL A A - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:144782471delA uc003qkt.2 + 21 2938 c.2846delA c.(2845-2847)GAAfs p.E949fs UTRN_uc010khq.1_Frame_Shift_Del_p.E949fs NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 949 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GCCCTGCAAGAAAAAAAGGTA 0.348 NA 7 275 --- --- --- --- NA NA NA NA NA MTHFD1L 25902 broad.mit.edu 37 6 151358163 151358164 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr6:151358163_151358164insA uc003qob.2 + 26 3025_3026 c.2757_2758insA c.(2755-2760)GACAAAfs p.D919fs MTHFD1L_uc011een.1_RNA|MTHFD1L_uc011eeo.1_Frame_Shift_Ins_p.D920fs|MTHFD1L_uc003qoc.2_Frame_Shift_Ins_p.D867fs NM_015440 NP_056255 Q6UB35 C1TM_HUMAN methylenetetrahydrofolate dehydrogenase (NADP+ 919_920 Formyltetrahydrofolate synthetase. folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process mitochondrion ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity ovary(3)|large_intestine(1) 4 Ovarian(120;0.128) OV - Ovarian serous cystadenocarcinoma(155;8.7e-12) ACCAACCTGACAAAAAAGGTGT 0.48 NA 9 243 --- --- --- --- NA NA NA NA NA FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:33014803_33014804insC uc003tdh.2 + 3 558_559 c.377_378insC c.(376-378)ATCfs p.I126fs AVL9_uc011kai.1_Intron|FKBP9_uc011kak.1_RNA|FKBP9_uc011kal.1_Frame_Shift_Ins_p.I179fs|FKBP9_uc003tdg.2_Frame_Shift_Ins_p.I126fs|FKBP9_uc010kwm.2_Frame_Shift_Ins_p.I33fs NM_007270 NP_009201 O95302 FKBP9_HUMAN FK506 binding protein 9 precursor 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|ovary(1) 14 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 NA 9 352 --- --- --- --- NA NA NA NA NA TXNDC3 51314 broad.mit.edu 37 7 37889877 37889878 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:37889877_37889878insA uc003tfn.2 + 3 381_382 c.9_10insA c.(7-12)AGCAAAfs p.S3fs NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 3_4 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 AAATGGCAAGCAAAAAACGAGA 0.317 Ovarian(108;903 1537 27096 29907 47400) NA Kartagener_syndrome 7 1218 --- --- --- --- NA NA NA NA NA C7orf10 79783 broad.mit.edu 37 7 40899961 40899962 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:40899961_40899962insC uc003thn.1 + 14 1245_1246 c.1200_1201insC c.(1198-1203)CCGCCCfs p.P400fs C7orf10_uc003thm.1_Frame_Shift_Ins_p.P396fs|C7orf10_uc003tho.1_Frame_Shift_Ins_p.P352fs|C7orf10_uc003thp.1_RNA NM_024728 NP_079004 Q9HAC7 CG010_HUMAN dermal papilla derived protein 13 407_408 transferase activity ovary(2) 2 AGGCCAGGCCGCCCCCGCTGCT 0.569 NA 8 999 --- --- --- --- NA NA NA NA NA FKBP9L 360132 broad.mit.edu 37 7 55759092 55759093 + Frame_Shift_Ins INS - - G rs3110924 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:55759092_55759093insG uc010kzl.2 - 3 289_290 c.189_190insC c.(187-192)CCCGACfs p.P63fs FKBP9L_uc003tqt.2_5'Flank|FKBP9L_uc011kcs.1_5'Flank NR_003949 SubName: Full=cDNA, FLJ79189, highly similar to FK506-binding protein 9 (EC 5.2.1.8); 0 ACTGAGCAGTCGGGGGGTTTGT 0.525 NA 11 318 --- --- --- --- NA NA NA NA NA FGL2 10875 broad.mit.edu 37 7 76828921 76828922 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:76828921_76828922insG uc003ugb.2 - 1 229_230 c.189_190insC c.(187-192)CCCTTGfs p.P63fs CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 63_64 signal transduction fibrinogen complex receptor binding skin(2) 2 TGAATAGTCAAGGGGGGCAGGC 0.48 NA 7 394 --- --- --- --- NA NA NA NA NA GRM3 2913 broad.mit.edu 37 7 86415681 86415682 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:86415681_86415682insC uc003uid.2 + 3 1672_1673 c.573_574insC c.(571-576)GTGCCCfs p.V191fs GRM3_uc010lef.2_Frame_Shift_Ins_p.V189fs|GRM3_uc010leg.2_Frame_Shift_Ins_p.V63fs|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 191_192 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) CCAGGACCGTGCCCCCCGACTT 0.564 GBM(52;969 1098 3139 52280) NA 7 337 --- --- --- --- NA NA NA NA NA SAMD9L 219285 broad.mit.edu 37 7 92764820 92764820 + Frame_Shift_Del DEL C C - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:92764820delC uc003umh.1 - 5 1681 c.465delG c.(463-465)AAGfs p.K155fs SAMD9L_uc003umj.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc003umi.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc010lfb.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc003umk.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc010lfc.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc010lfd.1_Frame_Shift_Del_p.K155fs|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 155 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) CAGGTTTTAGCTTACCCTTTT 0.358 NA 413 892 --- --- --- --- NA NA NA NA NA TRRAP 8295 broad.mit.edu 37 7 98592294 98592295 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:98592294_98592295insC uc003upp.2 + 66 10299_10300 c.10090_10091insC c.(10090-10092)ACCfs p.T3364fs TRRAP_uc011kis.1_Frame_Shift_Ins_p.T3335fs|TRRAP_uc003upr.2_Frame_Shift_Ins_p.T3070fs NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3364 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTAAAATCACCCCCCACACT 0.54 NA 7 562 --- --- --- --- NA NA NA NA NA ZCWPW1 55063 broad.mit.edu 37 7 100000150 100000151 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:100000150_100000151insT uc003uut.2 - 16 1707_1708 c.1459_1460insA c.(1459-1461)ACCfs p.T487fs ZCWPW1_uc011kjq.1_Frame_Shift_Ins_p.T367fs|ZCWPW1_uc003uur.2_Intron|ZCWPW1_uc003uus.2_Frame_Shift_Ins_p.T367fs|ZCWPW1_uc011kjr.1_Intron|ZCWPW1_uc011kjp.1_Intron NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 487 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTTGGCTTGGTTTTTTGGGTC 0.48 NA 13 3151 --- --- --- --- NA NA NA NA NA IMMP2L 83943 broad.mit.edu 37 7 111127376 111127377 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:111127376_111127377insC uc003vfq.1 - 3 599_600 c.156_157insG c.(154-159)GGGAGCfs p.G52fs IMMP2L_uc010ljr.1_Frame_Shift_Ins_p.G52fs|IMMP2L_uc003vfr.2_Frame_Shift_Ins_p.G52fs NM_032549 NP_115938 Q96T52 IMP2L_HUMAN IMP2 inner mitochondrial membrane protease-like 52_53 protein processing involved in protein targeting to mitochondrion|proteolysis integral to membrane|mitochondrial inner membrane peptidase complex|nucleus serine-type peptidase activity 0 UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173) GATGACTGGCTCCCCCCAGGAT 0.416 NA 10 337 --- --- --- --- NA NA NA NA NA GRM8 2918 broad.mit.edu 37 7 126173277 126173278 + Frame_Shift_Ins INS - - G rs77499554 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:126173277_126173278insG uc003vlr.2 - 8 2469_2470 c.2158_2159insC c.(2158-2160)CACfs p.H720fs GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Frame_Shift_Ins_p.H720fs|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 720 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) AATGATGATGTGGGGGGGATCC 0.505 NA HNSCC(24;0.065) 7 120 --- --- --- --- NA NA NA NA NA TNPO3 23534 broad.mit.edu 37 7 128610258 128610259 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:128610258_128610259insG uc003vol.1 - 20 2915_2916 c.2541_2542insC c.(2539-2544)CCCTATfs p.P847fs TNPO3_uc010llx.1_Frame_Shift_Ins_p.P258fs|TNPO3_uc003vom.1_Frame_Shift_Ins_p.P781fs|TNPO3_uc010lly.1_Frame_Shift_Ins_p.P881fs|TNPO3_uc010llz.1_Frame_Shift_Ins_p.P783fs NM_012470 NP_036602 Q9Y5L0 TNPO3_HUMAN transportin 3 847_848 splicing factor protein import into nucleus cytoplasm|nucleus protein binding|receptor activity ovary(2)|skin(2)|lung(1) 5 GGTAGGGTATAGGGGGGGAGGC 0.485 Pancreas(147;583 2585 39696 52331) NA 14 538 --- --- --- --- NA NA NA NA NA CNOT4 4850 broad.mit.edu 37 7 135047687 135047688 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:135047687_135047688insG uc011kpy.1 - 11 2183_2184 c.2091_2092insC c.(2089-2094)CCCAGCfs p.P697fs CNOT4_uc003vss.2_Frame_Shift_Ins_p.P623fs|CNOT4_uc011kpz.1_Frame_Shift_Ins_p.P694fs|CNOT4_uc003vst.2_Frame_Shift_Ins_p.P626fs NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 GGGGTTTTGCTGGGGGGTCTGA 0.53 Ovarian(51;766 1130 5502 35047 50875) NA 10 479 --- --- --- --- NA NA NA NA NA CNOT4 4850 broad.mit.edu 37 7 135106950 135106951 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:135106950_135106951insT uc003vsv.1 - 3 633_634 c.326_327insA c.(325-327)AACfs p.N109fs CNOT4_uc003vss.2_Frame_Shift_Ins_p.N109fs|CNOT4_uc011kpz.1_Frame_Shift_Ins_p.N109fs|CNOT4_uc003vst.2_Frame_Shift_Ins_p.N109fs|CNOT4_uc003vsu.1_Frame_Shift_Ins_p.N109fs|CNOT4_uc011kpy.1_Frame_Shift_Ins_p.N109fs NM_001008225 NP_001008226 O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 109 RRM. nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding 0 CAAAGACGAGGTTTTTTTGTAC 0.356 Ovarian(51;766 1130 5502 35047 50875) NA 7 409 --- --- --- --- NA NA NA NA NA TRPV5 56302 broad.mit.edu 37 7 142612493 142612494 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:142612493_142612494insC uc003wby.1 - 10 1533_1534 c.1269_1270insG c.(1267-1272)GGGCCAfs p.G423fs NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 423_424 Helical; (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) ACATGGAATGGCCCCCCAAGAA 0.505 NA 12 670 --- --- --- --- NA NA NA NA NA KEL 3792 broad.mit.edu 37 7 142639979 142639980 + Frame_Shift_Ins INS - - C rs140258059 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:142639979_142639980insC uc003wcb.2 - 17 2133_2134 c.1923_1924insG c.(1921-1926)GGGCTAfs p.G641fs NM_000420 NP_000411 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 641_642 Extracellular (Potential). proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(3)|central_nervous_system(1) 4 Melanoma(164;0.059) GCGATGGCTAGCCCCCCAACGT 0.5 NA 21 1089 --- --- --- --- NA NA NA NA NA OR2F2 135948 broad.mit.edu 37 7 143633070 143633070 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr7:143633070delG uc011ktv.1 + 1 745 c.745delG c.(745-747)GCCfs p.A249fs NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) CACGGTGGTTGCCCTGTGCTA 0.502 NA 32 455 --- --- --- --- NA NA NA NA NA CSMD1 64478 broad.mit.edu 37 8 3216722 3216722 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:3216722delG uc011kwk.1 - 21 3649 c.3259delC c.(3259-3261)CTGfs p.L1087fs CSMD1_uc011kwj.1_Frame_Shift_Del_p.L479fs|CSMD1_uc003wqe.2_Frame_Shift_Del_p.L243fs NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 1087 Sushi 6.|Extracellular (Potential). integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCCCACCCAGGCAGGTAAGC 0.552 NA 27 250 --- --- --- --- NA NA NA NA NA PSD3 23362 broad.mit.edu 37 8 18413784 18413785 + Frame_Shift_Ins INS - - G rs28651847 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:18413784_18413785insG uc003wza.2 - 15 2965_2966 c.2862_2863insC c.(2860-2865)CCCGACfs p.P954fs PSD3_uc003wyx.3_Frame_Shift_Ins_p.P283fs|PSD3_uc003wyy.2_Frame_Shift_Ins_p.P420fs|PSD3_uc003wyz.2_Frame_Shift_Ins_p.P255fs NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 955_956 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACCTTCTTGTCGGGGGGATATG 0.48 NA 7 790 --- --- --- --- NA NA NA NA NA NRG1 3084 broad.mit.edu 37 8 32614020 32614021 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:32614020_32614021insC uc003xiv.2 + 9 1420_1421 c.903_904insC c.(901-906)CCACCCfs p.P301fs NRG1_uc011lbf.1_Frame_Shift_Ins_p.P298fs|NRG1_uc010lvo.2_Frame_Shift_Ins_p.P298fs|NRG1_uc003xiu.2_Frame_Shift_Ins_p.P306fs|NRG1_uc003xiw.2_Frame_Shift_Ins_p.P298fs|NRG1_uc003xit.2_Frame_Shift_Ins_p.P301fs|NRG1_uc010lvr.2_Frame_Shift_Ins_p.P43fs|NRG1_uc010lvs.2_Frame_Shift_Ins_p.P43fs|NRG1_uc010lvp.2_Frame_Shift_Ins_p.P255fs|NRG1_uc010lvq.2_Frame_Shift_Ins_p.P238fs|NRG1_uc011lbg.1_Frame_Shift_Ins_p.P147fs|NRG1_uc011lbh.1_Frame_Shift_Ins_p.P144fs|NRG1_uc003xja.2_Frame_Shift_Ins_p.P112fs NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 301_302 Cytoplasmic (Potential). activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) ATCCTAACCCACCCCCCGAGAA 0.495 NA 10 254 --- --- --- --- NA NA NA NA NA UNC5D 137970 broad.mit.edu 37 8 35584019 35584020 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:35584019_35584020insG uc003xjr.1 + 10 1981_1982 c.1653_1654insG c.(1651-1656)TTAGGGfs p.L551fs UNC5D_uc003xjs.1_Frame_Shift_Ins_p.L546fs|UNC5D_uc003xju.1_Frame_Shift_Ins_p.L127fs|UNC5D_uc003xjt.1_Frame_Shift_Ins_p.L309fs NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 551_552 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGGCCATTTAGGGGGGCGCTT 0.411 NA 9 533 --- --- --- --- NA NA NA NA NA SGK196 84197 broad.mit.edu 37 8 42958728 42958729 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:42958728_42958729insC uc003xpw.2 + 4 296_297 c.37_38insC c.(37-39)GCCfs p.A13fs NM_032237 NP_115613 Q9H5K3 SG196_HUMAN protein kinase-like protein SgK196 13 integral to membrane ATP binding|protein kinase activity 0 GAGAGGCCTCGCCCCCCGAGAG 0.54 NA 8 194 --- --- --- --- NA NA NA NA NA ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:68128855_68128856insG uc003xxo.1 - 33 5045_5046 c.4655_4656insC c.(4654-4656)CCAfs p.P1552fs ARFGEF1_uc003xxl.1_Frame_Shift_Ins_p.P1006fs|ARFGEF1_uc003xxn.1_Frame_Shift_Ins_p.P535fs NM_006421 NP_006412 Q9Y6D6 BIG1_HUMAN brefeldin A-inhibited guanine 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|kidney(1) 8 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 NA 20 392 --- --- --- --- NA NA NA NA NA SULF1 23213 broad.mit.edu 37 8 70488248 70488249 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:70488248_70488249insG uc010lza.1 + 6 933_934 c.216_217insG c.(214-219)CATGGGfs p.H72fs SULF1_uc003xyd.2_Frame_Shift_Ins_p.H72fs|SULF1_uc003xye.2_Frame_Shift_Ins_p.H72fs|SULF1_uc003xyf.2_Frame_Shift_Ins_p.H72fs|SULF1_uc003xyg.2_Frame_Shift_Ins_p.H72fs NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 72_73 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTATGGAACATGGGGGGGCCAC 0.495 NA 7 130 --- --- --- --- NA NA NA NA NA SULF1 23213 broad.mit.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:70514026delT uc010lza.1 + 10 1740 c.1023delT c.(1021-1023)CCTfs p.P341fs SULF1_uc003xyd.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xye.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyf.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyg.2_Frame_Shift_Del_p.P341fs|SULF1_uc003xyh.1_RNA NM_015170 NP_055985 Q8IWU6 SULF1_HUMAN sulfatase 1 precursor 341 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding central_nervous_system(3)|ovary(2)|pancreas(1)|skin(1) 7 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TTCGTGTGCCTTTTTTTATTC 0.408 NA 7 2419 --- --- --- --- NA NA NA NA NA LY96 23643 broad.mit.edu 37 8 74903692 74903693 + Frame_Shift_Ins INS - - T TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:74903692_74903693insT uc003yad.2 + 1 106_107 c.15_16insT c.(13-18)CTGTTTfs p.L5fs NM_015364 NP_056179 Q9Y6Y9 LY96_HUMAN MD-2 protein precursor 5_6 cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway extracellular space|lipopolysaccharide receptor complex|plasma membrane coreceptor activity|lipopolysaccharide receptor activity|protein binding 0 Breast(64;0.0311) Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619) TACCATTTCTGTTTTTTTCCAC 0.366 GBM(131;1357 1748 34893 50149 52212) NA 8 870 --- --- --- --- NA NA NA NA NA SLC26A7 115111 broad.mit.edu 37 8 92261931 92261932 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:92261931_92261932insC uc003yex.2 + 3 330_331 c.52_53insC c.(52-54)ACCfs p.T18fs SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Frame_Shift_Ins_p.T18fs|SLC26A7_uc003yfa.2_Frame_Shift_Ins_p.T18fs NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 18 Cytoplasmic (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) CAAGATGCATACCCCCCAGTGT 0.396 NA 9 457 --- --- --- --- NA NA NA NA NA VPS13B 157680 broad.mit.edu 37 8 100779108 100779121 + Frame_Shift_Del DEL TCAATCTCGTGAAT TCAATCTCGTGAAT - rs145846582 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 TCAATCTCGTGAAT TCAATCTCGTGAAT - - TCAATCTCGTGAAT TCAATCTCGTGAAT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:100779108_100779121delTCAATCTCGTGAAT uc003yiv.2 + 40 7343_7356 c.7232_7245delTCAATCTCGTGAAT c.(7231-7245)ATCAATCTCGTGAATfs p.I2411fs VPS13B_uc003yiw.2_Frame_Shift_Del_p.I2386fs NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 2411_2415 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) TTGCCGGATATCAATCTCGTGAATGACCAGAAGA 0.374 Colon(161;2205 2542 7338 31318) NA 16 179 --- --- --- --- NA NA NA NA NA FBXO43 286151 broad.mit.edu 37 8 101153252 101153255 + Frame_Shift_Del DEL TCTT TCTT - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 TCTT TCTT - - TCTT TCTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr8:101153252_101153255delTCTT uc003yjd.2 - 2 1940_1943 c.1227_1230delAAGA c.(1225-1230)AAAAGAfs p.K409fs FBXO43_uc003yje.2_Frame_Shift_Del_p.K375fs|FBXO43_uc010mbp.1_Frame_Shift_Del_p.K409fs NM_001029860 NP_001025031 Q4G163 FBX43_HUMAN F-box protein 43 isoform b 409_410 meiosis zinc ion binding kidney(1)|skin(1) 2 all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798) Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957) CAGCTGCTGCTCTTTTTTCAGAGT 0.49 NA 8 152 --- --- --- --- NA NA NA NA NA RLN2 6019 broad.mit.edu 37 9 5304560 5304561 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:5304560_5304561insA uc003zja.1 - 1 20_21 c.20_21insT c.(19-21)TTCfs p.F7fs RLN2_uc003ziz.1_Frame_Shift_Ins_p.F7fs NM_134441 NP_604390 P04090 REL2_HUMAN relaxin 2 isoform 1 preproprotein 7 female pregnancy extracellular region hormone activity 0 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987) CTAGCAGGTGGAAAAAAAACAG 0.535 NA 11 403 --- --- --- --- NA NA NA NA NA FREM1 158326 broad.mit.edu 37 9 14823286 14823287 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:14823286_14823287insG uc003zlm.2 - 13 2798_2799 c.2208_2209insC c.(2206-2211)CCCATGfs p.P736fs FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 736_737 CSPG 4. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) ATGTCTTGCATGGGGGGCATGT 0.441 NA 7 791 --- --- --- --- NA NA NA NA NA UBAP2 55833 broad.mit.edu 37 9 33923478 33923479 + Splice_Site INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:33923478_33923479insG uc003ztq.1 - 25 2910 c.2797_splice c.e25-1 p.V933_splice UBAP2_uc011loc.1_Splice_Site_p.V842_splice|UBAP2_uc011lod.1_Splice_Site_p.V666_splice|UBAP2_uc011loe.1_Splice_Site_p.V688_splice|UBAP2_uc011lof.1_Intron|UBAP2_uc003ztn.1_Splice_Site_p.V172_splice|UBAP2_uc003zto.1_Splice_Site_p.V172_splice|UBAP2_uc003ztp.1_Splice_Site_p.V172_splice NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGGAGGGACCTGGGGGGGCAAG 0.594 NA 14 338 --- --- --- --- NA NA NA NA NA TRPM6 140803 broad.mit.edu 37 9 77377691 77377692 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:77377691_77377692insC uc004ajl.1 - 26 4133_4134 c.3895_3896insG c.(3895-3897)GCAfs p.A1299fs TRPM6_uc004ajk.1_Frame_Shift_Ins_p.A1294fs|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Frame_Shift_Ins_p.A255fs NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1299 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 CTCAAGAAGTGCCCCCCTCTGC 0.48 NA 9 460 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 9 90748545 90748546 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:90748545_90748546insC uc011lti.1 - 2 257_258 c.228_229insG c.(226-231)GGGAGGfs p.G76fs SubName: Full=cDNA FLJ59639; NA CCTCTGGGCCTCCCCCTCCGCC 0.599 NA 7 393 --- --- --- --- NA NA NA NA NA SECISBP2 79048 broad.mit.edu 37 9 91943617 91943618 + Frame_Shift_Ins INS - - A TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:91943617_91943618insA uc004aqj.1 + 5 697_698 c.617_618insA c.(616-618)GCAfs p.A206fs SECISBP2_uc010mqn.1_Frame_Shift_Ins_p.A206fs|SECISBP2_uc004aqi.1_Frame_Shift_Ins_p.A133fs|SECISBP2_uc011ltk.1_Frame_Shift_Ins_p.A205fs|SECISBP2_uc004aqk.1_Frame_Shift_Ins_p.A133fs|SECISBP2_uc010mqo.1_5'UTR|SECISBP2_uc011ltl.1_Frame_Shift_Ins_p.A138fs NM_024077 NP_076982 Q96T21 SEBP2_HUMAN SECIS binding protein 2 206 translation nucleus mRNA 3'-UTR binding ovary(2)|skin(1) 3 AGAATCATTGCAAAAAATGTAT 0.356 NA 7 202 --- --- --- --- NA NA NA NA NA ROR2 4920 broad.mit.edu 37 9 94486955 94486955 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:94486955delG uc004arj.1 - 9 2020 c.1821delC c.(1819-1821)TCCfs p.S607fs ROR2_uc004ari.1_Frame_Shift_Del_p.S467fs NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 607 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 CGTGGTGGCTGGATAGGTACT 0.607 NA 48 155 --- --- --- --- NA NA NA NA NA MRPL50 54534 broad.mit.edu 37 9 104152774 104152775 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:104152774_104152775insG uc004bbe.2 - 2 495_496 c.450_451insC c.(448-453)CCCAATfs p.P150fs MRPL50_uc011lvj.1_Intron NM_019051 NP_061924 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 150_151 mitochondrion|ribosome 0 Acute lymphoblastic leukemia(62;0.0559) ATTTTCAAATTGGGGGGCAGAT 0.401 NA 18 542 --- --- --- --- NA NA NA NA NA OR13C4 138804 broad.mit.edu 37 9 107289148 107289148 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:107289148delG uc011lvn.1 - 1 343 c.343delC c.(343-345)CTTfs p.L115fs NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATCATGCCAAGGAGGAAACAT 0.438 NA 95 757 --- --- --- --- NA NA NA NA NA C9orf152 401546 broad.mit.edu 37 9 112963553 112963554 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:112963553_112963554insG uc011lwk.1 - 2 948_949 c.394_395insC c.(394-396)CAGfs p.Q132fs NM_001012993 NP_001013011 Q5JTZ5 CI152_HUMAN hypothetical protein LOC401546 132 0 ACTGGTGTCCTGGGGGGAGGTT 0.564 NA 7 861 --- --- --- --- NA NA NA NA NA COL5A1 1289 broad.mit.edu 37 9 137623482 137623482 + Frame_Shift_Del DEL G G - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chr9:137623482delG uc004cfe.2 + 8 1687 c.1305delG c.(1303-1305)CCGfs p.P435fs NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 435 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CGGGAATGCCGGCGAACCAGG 0.567 NA 15 101 --- --- --- --- NA NA NA NA NA CLCN4 1183 broad.mit.edu 37 X 10188762 10188763 + Frame_Shift_Ins INS - - C rs142375213 TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:10188762_10188763insC uc004csy.3 + 12 2467_2468 c.2037_2038insC c.(2035-2040)GAACCCfs p.E679fs CLCN4_uc011mid.1_Frame_Shift_Ins_p.E585fs NM_001830 NP_001821 P51793 CLCN4_HUMAN chloride channel 4 679_680 Cytoplasmic (By similarity). early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 TCACGGAGGAACCCCCCGAGCT 0.564 Melanoma(74;1050 1296 1576 30544 38374) NA 7 228 --- --- --- --- NA NA NA NA NA USP9X 8239 broad.mit.edu 37 X 40982956 40982957 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:40982956_40982957insC uc004dfb.2 + 2 708_709 c.75_76insC c.(73-78)CAGCCCfs p.Q25fs USP9X_uc004dfc.2_Frame_Shift_Ins_p.Q25fs NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 25_26 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity lung(3)|breast(2)|ovary(1) 6 GACAGTCTCAGCCCCCCCTCCA 0.426 Ovarian(172;1807 2695 35459 49286) NA 7 120 --- --- --- --- NA NA NA NA NA Unknown 0 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:48159107_48159108insG uc010nib.1 - 6 512_513 c.425_426insC c.(424-426)CCGfs p.P142fs NM_174962 NP_777622 synovial sarcoma, X breakpoint 9 NA TTGGTTTTCCCGGGGGGCACAG 0.49 NA 20 409 --- --- --- --- NA NA NA NA NA SSX3 10214 broad.mit.edu 37 X 48207024 48207025 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:48207024_48207025insC uc004djd.1 - 7 575_576 c.481_482insG c.(481-483)GAAfs p.E161fs NM_021014 NP_066294 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 isoform a 161 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 CCAGGCATGTTCCCCCCTTTTG 0.48 Colon(37;227 826 19399 40970 48007) NA 10 822 --- --- --- --- NA NA NA NA NA SSX3 10214 broad.mit.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G rs6651589 byFrequency TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:48209462_48209463insG uc004djd.1 - 6 519_520 c.425_426insC c.(424-426)CCGfs p.P142fs SSX3_uc004dje.2_Frame_Shift_Ins_p.P142fs NM_021014 NP_066294 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 isoform a 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding 0 TTGGTTTTCCCGGGGGGCACAG 0.495 Colon(37;227 826 19399 40970 48007) NA 8 424 --- --- --- --- NA NA NA NA NA TFE3 7030 broad.mit.edu 37 X 48887951 48887952 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:48887951_48887952insC uc004dmb.3 - 10 1683_1684 c.1445_1446insG c.(1444-1446)GGAfs p.G482fs TFE3_uc004dmc.3_Frame_Shift_Ins_p.G377fs NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 482 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 TCTGGGCAGGTCCCCCCCCTAC 0.649 NA T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 20 153 --- --- --- --- NA NA NA NA NA COL4A5 1287 broad.mit.edu 37 X 107834821 107834822 + Frame_Shift_Ins INS - - C TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:107834821_107834822insC uc004enz.1 + 21 1572_1573 c.1370_1371insC c.(1369-1371)GGCfs p.G457fs COL4A5_uc011mso.1_Frame_Shift_Ins_p.G457fs|COL4A5_uc004eob.1_Frame_Shift_Ins_p.G65fs NM_033380 NP_203699 P29400 CO4A5_HUMAN type IV collagen alpha 5 isoform 2 precursor 457 Triple-helical region. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding ovary(3)|central_nervous_system(1) 4 GGCCCTCCAGGCCCCCCAGGAT 0.406 NA Alport_syndrome_with_Diffuse_Leiomyomatosis 7 795 --- --- --- --- NA NA NA NA NA CAPN6 827 broad.mit.edu 37 X 110494259 110494259 + Frame_Shift_Del DEL A A - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:110494259delA uc004epc.1 - 8 1212 c.1044delT c.(1042-1044)TTTfs p.F348fs CAPN6_uc011msu.1_Frame_Shift_Del_p.F93fs NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 348 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|lung(1)|skin(1) 6 CCTTTCGGCCAAAAATAGGGT 0.488 NA 7 1524 --- --- --- --- NA NA NA NA NA ZCCHC16 340595 broad.mit.edu 37 X 111698756 111698756 + Frame_Shift_Del DEL C C - TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:111698756delC uc004epo.1 + 3 1241 c.800delC c.(799-801)ACCfs p.T267fs NM_001004308 NP_001004308 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 267 nucleic acid binding|zinc ion binding ovary(1) 1 CTGCCTCTCACCCCAGCCAAA 0.547 NA 76 177 --- --- --- --- NA NA NA NA NA GPR112 139378 broad.mit.edu 37 X 135455155 135455156 + Frame_Shift_Ins INS - - G TCGA-44-2656-01A-02W-0928-08 TCGA-44-2656-10A-01D-0969-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq b2773f71-23ca-4f92-99cb-1452846a1b36 03b8420d-480f-48e1-88a7-8ee9917049a6 g.chrX:135455155_135455156insG uc004ezu.1 + 15 7999_8000 c.7708_7709insG c.(7708-7710)CGGfs p.R2570fs GPR112_uc010nsb.1_Frame_Shift_Ins_p.R2365fs NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 2570 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) GGCTGTGCTGCGGGGGGACCAC 0.53 NA 13 1600 --- --- --- --- NA NA NA NA NA