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 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 filter ACOT7 11332 broad.mit.edu 37 1 6341204 6341204 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:6341204C>T uc001ams.2 - 8 1159 c.1002G>A c.(1000-1002)TCG>TCA p.S334S ACOT7_uc010nzq.1_Silent_p.S219S|ACOT7_uc001amt.2_Silent_p.S324S|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.S283S|ACOT7_uc001amr.2_Silent_p.S304S NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 334 mitochondrion|nucleus carboxylesterase activity|fatty-acyl-CoA binding|palmitoyl-CoA hydrolase activity 0 Ovarian(185;0.0634)|all_lung(157;0.175) all_cancers(23;1.42e-38)|all_epithelial(116;3.96e-23)|all_lung(118;3.69e-08)|Lung NSC(185;8.52e-07)|all_hematologic(16;6.92e-06)|Colorectal(325;4.53e-05)|Acute lymphoblastic leukemia(12;5e-05)|all_neural(13;0.000164)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211) Epithelial(90;9.16e-37)|GBM - Glioblastoma multiforme(13;5.89e-29)|OV - Ovarian serous cystadenocarcinoma(86;7.63e-19)|Colorectal(212;1.27e-07)|COAD - Colon adenocarcinoma(227;2.06e-05)|Kidney(185;7.74e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00129)|BRCA - Breast invasive adenocarcinoma(365;0.00132)|STAD - Stomach adenocarcinoma(132;0.00195)|READ - Rectum adenocarcinoma(331;0.0481) CCTGGCTCAGCGACACGTAGG 0.647 OREG0013034 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 22 --- --- --- --- PASS CELA2A 63036 broad.mit.edu 37 1 15788058 15788058 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:15788058C>G uc001awk.2 + 3 158 c.132C>G c.(130-132)GTC>GTG p.V44V NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 44 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 CTCCCCAGGTCTCCCTGCAGT 0.512 9 45 --- --- --- --- PASS CLCNKA 1187 broad.mit.edu 37 1 16358208 16358208 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:16358208C>A uc001axu.2 + 16 1706 c.1626C>A c.(1624-1626)TCC>TCA p.S542S CLCNKA_uc001axt.2_RNA|CLCNKA_uc001axv.2_Silent_p.S542S|CLCNKA_uc010obw.1_Silent_p.S499S|CLCNKB_uc001axw.3_Intron|CLCNKA_uc010oby.1_Silent_p.S278S NM_004070 NP_004061 P51800 CLCKA_HUMAN chloride channel Ka isoform 1 542 excretion chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(1) 1 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) Niflumic Acid(DB04552) CCTGCAGCTCCCACCATGTGA 0.622 9 22 --- --- --- --- PASS PADI4 23569 broad.mit.edu 37 1 17660457 17660457 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:17660457G>T uc001baj.2 + 3 321 c.293G>T c.(292-294)GGA>GTA p.G98V PADI4_uc009vpc.2_Missense_Mutation_p.G98V NM_012387 NP_036519 Q9UM07 PADI4_HUMAN peptidyl arginine deiminase, type IV 98 chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity ovary(1)|skin(1) 2 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199) L-Citrulline(DB00155) TCATACTACGGACCCAAGACT 0.393 7 27 --- --- --- --- PASS PAX7 5081 broad.mit.edu 37 1 19062446 19062446 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:19062446G>T uc001bay.2 + 8 2074 c.1476G>T c.(1474-1476)ATG>ATT p.M492I PAX7_uc001baz.2_Missense_Mutation_p.M490I|PAX7_uc010oct.1_Intron NM_002584 NP_002575 P23759 PAX7_HUMAN paired box 7 isoform 1 492 anti-apoptosis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity PAX7/FOXO1(197) soft_tissue(197)|lung(3)|prostate(1)|ovary(1)|breast(1) 203 Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576) GCTTGTTTATGGAGAGctaca 0.338 T FOXO1A alveolar rhabdomyosarcoma 4 26 --- --- --- --- PASS ALDH4A1 8659 broad.mit.edu 37 1 19212005 19212005 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:19212005G>A uc001bbb.2 - 5 691 c.415C>T c.(415-417)CGC>TGC p.R139C ALDH4A1_uc010ocu.1_Missense_Mutation_p.R79C|ALDH4A1_uc001bbc.2_Missense_Mutation_p.R139C NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 139 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TCAGCCCTGCGCGGCCCACTC 0.453 5 8 --- --- --- --- PASS ALDH4A1 8659 broad.mit.edu 37 1 19212006 19212006 + Silent SNP C G G rs141755639 byFrequency TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:19212006C>G uc001bbb.2 - 5 690 c.414G>C c.(412-414)CCG>CCC p.P138P ALDH4A1_uc010ocu.1_Silent_p.P78P|ALDH4A1_uc001bbc.2_Silent_p.P138P NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 138 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CAGCCCTGCGCGGCCCACTCA 0.453 5 8 --- --- --- --- PASS UBR4 23352 broad.mit.edu 37 1 19451160 19451160 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:19451160C>A uc001bbi.2 - 65 9467 c.9463G>T c.(9463-9465)GCC>TCC p.A3155S UBR4_uc001bbk.1_Missense_Mutation_p.A802S NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3155 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGAGTATAGGCCTCAAACACA 0.433 4 41 --- --- --- --- PASS CAPZB 832 broad.mit.edu 37 1 19666102 19666102 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:19666102C>A uc010ocz.1 - 9 1256 c.828G>T c.(826-828)CAG>CAT p.Q276H CAPZB_uc001bce.2_Missense_Mutation_p.Q247H|CAPZB_uc009vpk.2_Missense_Mutation_p.D248Y|CAPZB_uc001bcd.2_Missense_Mutation_p.Q235H NM_004930 NP_004921 P47756 CAPZB_HUMAN F-actin capping protein beta subunit Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding 0 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) CTGCAAAAGTCTGCACAGACC 0.517 32 132 --- --- --- --- PASS RHD 6007 broad.mit.edu 37 1 25627436 25627436 + Splice_Site SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:25627436G>A uc001bjz.2 + 4 545 c.487_splice c.e4-1 p.T163_splice RHD_uc010oep.1_Splice_Site_p.T163_splice|RHD_uc001bkc.2_Splice_Site_p.T163_splice|RHD_uc009vrm.2_Intron|RHD_uc001bka.2_Splice_Site_p.T163_splice|RHD_uc001bkb.2_Splice_Site_p.T163_splice|RHD_uc009vrn.2_Splice_Site_p.T163_splice|RHD_uc009vro.2_Splice_Site_p.T163_splice|RHD_uc009vrp.2_Splice_Site_p.T163_splice NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TTTTATTGCAGACAGACTACC 0.537 13 88 --- --- --- --- PASS SLC9A1 6548 broad.mit.edu 37 1 27480681 27480681 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:27480681A>C uc001bnm.2 - 1 771 c.145T>G c.(145-147)TCA>GCA p.S49A SLC9A1_uc010ofk.1_5'UTR|SLC9A1_uc001bnn.2_Missense_Mutation_p.S49A NM_003047 NP_003038 P19634 SL9A1_HUMAN solute carrier family 9, isoform A1 49 Extracellular (Potential). regulation of pH integral to membrane sodium:hydrogen antiporter activity ovary(1)|central_nervous_system(1) 2 UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046) Amiloride(DB00594) GGTGGCTCTGAGCTTCGAATG 0.597 8 30 --- --- --- --- PASS SFRS4 6429 broad.mit.edu 37 1 29475183 29475183 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:29475183G>A uc001bro.2 - 6 1597 c.1224C>T c.(1222-1224)TCC>TCT p.S408S SFRS4_uc010ofy.1_3'UTR NM_005626 NP_005617 Q08170 SRSF4_HUMAN splicing factor, arginine/serine-rich 4 408 Arg/Ser-rich (RS domain). mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nuclear speck nucleotide binding|RNA binding 0 Colorectal(325;0.00161)|Breast(348;0.0364)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0529)|Lung NSC(340;0.0654)|all_lung(284;0.074)|Ovarian(437;0.104)|Medulloblastoma(700;0.151) Colorectal(126;1.01e-07)|COAD - Colon adenocarcinoma(152;6.21e-06)|STAD - Stomach adenocarcinoma(196;0.0196)|BRCA - Breast invasive adenocarcinoma(304;0.0531)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.138) ACACGGAGCGGGATGGAGATC 0.428 48 126 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34123686 34123686 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:34123686C>T uc001bxn.1 - 27 4216 c.4187G>A c.(4186-4188)CGG>CAG p.R1396Q CSMD2_uc001bxm.1_Missense_Mutation_p.R1436Q|CSMD2_uc001bxo.1_Missense_Mutation_p.R309Q NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1396 Extracellular (Potential).|Sushi 8. integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GTCACCACTCCGACTCCCATT 0.587 21 54 --- --- --- --- PASS GJB5 2709 broad.mit.edu 37 1 35223426 35223426 + Silent SNP C T T rs149592496 byFrequency TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:35223426C>T uc001bxu.2 + 2 595 c.495C>T c.(493-495)CAC>CAT p.H165H GJB4_uc001bxv.1_5'Flank NM_005268 NP_005259 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 165 Extracellular (Potential). cell communication|epidermis development connexon complex|integral to membrane ovary(1) 1 Myeloproliferative disorder(586;0.0393) TCAAGTGCCACGCAGATCCAT 0.512 18 50 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39823534 39823534 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:39823534C>G uc010oiu.1 + 9 7363 c.7232C>G c.(7231-7233)GCA>GGA p.A2411G MACF1_uc010ois.1_Missense_Mutation_p.A1909G|MACF1_uc001cda.1_Missense_Mutation_p.A1817G|MACF1_uc001cdc.1_Missense_Mutation_p.A996G|MACF1_uc001cdb.1_Missense_Mutation_p.A996G NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 3976 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) TTGAAGGATGCAACAGAAAGA 0.433 10 9 --- --- --- --- PASS KIAA0467 23334 broad.mit.edu 37 1 43897158 43897158 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:43897158G>T uc001cjk.1 + 20 2817 c.2355G>T c.(2353-2355)ACG>ACT p.T785T NM_015284 NP_056099 Q5T011 SZT2_HUMAN hypothetical protein LOC23334 1684 peroxisome 0 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ATTTGGCCACGCCCCACAGAC 0.463 13 101 --- --- --- --- PASS TMEM53 79639 broad.mit.edu 37 1 45120240 45120240 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:45120240G>A uc001cmc.2 - 3 861 c.825C>T c.(823-825)GTC>GTT p.V275V TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Silent_p.V202V|TMEM53_uc009vxh.1_Silent_p.V158V|TMEM53_uc010ola.1_Silent_p.V158V NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 275 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) CTCAGCAGCGGACGCAGTTGC 0.542 5 55 --- --- --- --- PASS FOXE3 2301 broad.mit.edu 37 1 47882444 47882444 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:47882444G>A uc001crk.2 + 1 701 c.457G>A c.(457-459)GAC>AAC p.D153N NM_012186 NP_036318 Q13461 FOXE3_HUMAN forkhead box E3 153 Fork-head. cell migration|embryonic organ morphogenesis|enteric nervous system development|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|pattern specification process|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thyroid gland development|thyroid hormone generation 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 READ - Rectum adenocarcinoma(2;0.0908) CGCGGCCGCAGACATGTTCGA 0.557 8 37 --- --- --- --- PASS GLIS1 148979 broad.mit.edu 37 1 53986384 53986384 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:53986384T>C uc001cvr.1 - 6 1691 c.1124A>G c.(1123-1125)CAG>CGG p.Q375R NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 375 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 GTGGAGCTGCTGCAGGACCAG 0.672 3 9 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57383237 57383237 + Splice_Site SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:57383237G>T uc001cyo.2 + 11 1736 c.1604_splice c.e11-1 p.G535_splice NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TTCCTCTGCAGGAGCCAAAGC 0.413 14 23 --- --- --- --- PASS C8A 731 broad.mit.edu 37 1 57383238 57383238 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:57383238G>T uc001cyo.2 + 11 1736 c.1604G>T c.(1603-1605)GGA>GTA p.G535V NM_000562 NP_000553 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 535 complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex ovary(1)|central_nervous_system(1)|skin(1) 3 TCCTCTGCAGGAGCCAAAGCA 0.418 14 25 --- --- --- --- PASS JUN 3725 broad.mit.edu 37 1 59248409 59248409 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:59248409C>G uc001cze.2 - 1 1377 c.334G>C c.(334-336)GAG>CAG p.E112Q uc001czf.2_5'Flank|uc010oop.1_5'Flank NM_002228 NP_002219 P05412 JUN_HUMAN jun oncogene 112 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding 0 all_cancers(7;8.55e-07) Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570) ACGAAGCCCTCGGCGAAGCCC 0.672 A sarcoma 19 66 --- --- --- --- PASS ATG4C 84938 broad.mit.edu 37 1 63329799 63329799 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:63329799G>C uc001dat.2 + 11 1508 c.1346G>C c.(1345-1347)AGA>ACA p.R449T ATG4C_uc001dau.2_Missense_Mutation_p.R449T NM_178221 NP_835739 Q96DT6 ATG4C_HUMAN APG4 autophagy 4 homolog C isoform 8 449 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ovary(1) 1 CAATTAAAAAGATTTAGCACG 0.313 13 35 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65855081 65855081 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:65855081A>G uc001dcd.1 + 10 1329 c.1165A>G c.(1165-1167)AGC>GGC p.S389G DNAJC6_uc001dcc.1_Missense_Mutation_p.S420G|DNAJC6_uc010opc.1_Missense_Mutation_p.S376G|DNAJC6_uc001dce.1_Missense_Mutation_p.S446G NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 389 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 TGTCAATCCCAGCATCCTCTT 0.443 16 39 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70291484 70291484 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:70291484G>T uc001dep.2 + 3 391 c.361G>T c.(361-363)GAA>TAA p.E121* LRRC7_uc001deo.1_Nonsense_Mutation_p.E159*|LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 121 LRR 5. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AACAATTATTGAAGCCAGTGT 0.274 4 44 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70493891 70493891 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:70493891C>G uc001dep.2 + 16 1748 c.1718C>G c.(1717-1719)CCA>CGA p.P573R LRRC7_uc009wbg.2_Intron NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 573 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACTCCTTACCCAGAGGATTTA 0.348 12 50 --- --- --- --- PASS PTGER3 5733 broad.mit.edu 37 1 71478136 71478136 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:71478136G>A uc001dfg.1 - 2 1160 c.929C>T c.(928-930)ACA>ATA p.T310I PTGER3_uc001dfh.1_RNA|PTGER3_uc001dfi.1_RNA|PTGER3_uc001dfj.1_RNA|PTGER3_uc001dfk.1_Missense_Mutation_p.T310I|PTGER3_uc001dfl.1_Missense_Mutation_p.T310I|PTGER3_uc009wbm.1_Missense_Mutation_p.T310I|PTGER3_uc001dfm.1_RNA|PTGER3_uc001dfn.2_Missense_Mutation_p.T310I|PTGER3_uc009wbn.1_Missense_Mutation_p.T310I|PTGER3_uc009wbo.2_Missense_Mutation_p.T310I|PTGER3_uc001dfo.2_Missense_Mutation_p.T310I|PTGER3_uc001dfp.1_Missense_Mutation_p.T310I|PTGER3_uc001dfq.2_Missense_Mutation_p.T310I NM_198714 NP_942007 P43115 PE2R3_HUMAN prostaglandin E receptor 3, subtype EP3 isoform 310 Extracellular (Potential). cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity pancreas(1)|lung(1)|skin(1) 3 Bimatoprost(DB00905) CTCAACTGATGTCTGATTGAA 0.333 7 37 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74832986 74832986 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:74832986A>G uc001dgf.1 + 12 1275 c.1224A>G c.(1222-1224)CAA>CAG p.Q408Q TNNI3K_uc001dgc.1_Silent_p.Q509Q|TNNI3K_uc001dgd.2_Silent_p.Q509Q|TNNI3K_uc001dge.1_Silent_p.Q509Q NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 408 ANK 10. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 AGAGACCACAAGATGAATTGC 0.348 16 78 --- --- --- --- PASS RABGGTB 5876 broad.mit.edu 37 1 76254853 76254853 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:76254853A>T uc001dgy.1 + 3 192 c.121A>T c.(121-123)ATG>TTG p.M41L RABGGTB_uc009wbt.1_RNA|RABGGTB_uc001dha.1_5'UTR|SNORD45B_uc009wbv.1_5'Flank NM_004582 NP_004573 P53611 PGTB2_HUMAN RAB geranylgeranyltransferase, beta subunit 41 PFTB 1. protein modification process|visual perception metal ion binding|protein binding|Rab geranylgeranyltransferase activity ovary(1) 1 GGAATACTGTATGTCTGAGTA 0.353 11 65 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76280782 76280782 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:76280782T>A uc001dhd.1 + 5 817 c.776T>A c.(775-777)ATA>AAA p.I259K NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 259 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding lung(3)|ovary(2) 5 CAGTTATGCATAGCAGAATTC 0.299 MMR 11 57 --- --- --- --- PASS ZZZ3 26009 broad.mit.edu 37 1 78099011 78099011 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:78099011G>C uc001dhq.2 - 5 505 c.29C>G c.(28-30)ACA>AGA p.T10R ZZZ3_uc001dhr.2_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.T10R|ZZZ3_uc001dhp.2_Missense_Mutation_p.T10R NM_015534 NP_056349 Q8IYH5 ZZZ3_HUMAN zinc finger, ZZ-type containing 3 10 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|large_intestine(1) 5 TGTTGATCTTGTAACACGAGT 0.403 27 67 --- --- --- --- PASS IFI44L 10964 broad.mit.edu 37 1 79101166 79101166 + Nonsense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:79101166A>T uc010oro.1 + 5 1047 c.868A>T c.(868-870)AGA>TGA p.R290* IFI44L_uc010orp.1_Nonsense_Mutation_p.R27*|IFI44L_uc010orq.1_Nonsense_Mutation_p.R27* NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 290 cytoplasm 0 TATGCCAGACAGATATCAGGT 0.383 9 63 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79402025 79402025 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:79402025A>T uc001diq.3 - 7 988 c.832T>A c.(832-834)TAC>AAC p.Y278N NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 278 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) ATATTTATGTAGTCTCCATCC 0.264 11 90 --- --- --- --- PASS COL24A1 255631 broad.mit.edu 37 1 86590959 86590959 + Missense_Mutation SNP G T T rs116613844 by1000genomes TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:86590959G>T uc001dlj.2 - 3 1102 c.1060C>A c.(1060-1062)CAT>AAT p.H354N COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.H354N NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 354 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CTGATGCGATGAGTGGTCACT 0.408 9 67 --- --- --- --- PASS RBMXL1 494115 broad.mit.edu 37 1 89449001 89449001 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:89449001A>T uc009wcx.2 - 3 1225 c.509T>A c.(508-510)CTA>CAA p.L170Q CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc001dms.2_Missense_Mutation_p.L170Q NM_001162536 NP_001156008 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 170 nucleotide binding|RNA binding 0 GCTGCGAACTAGTCCTGAAGG 0.517 47 150 --- --- --- --- PASS GBP6 163351 broad.mit.edu 37 1 89834177 89834177 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:89834177G>T uc001dnf.2 + 2 341 c.67G>T c.(67-69)GTG>TTG p.V23L GBP6_uc010ost.1_Intron NM_198460 NP_940862 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 23 GTP binding|GTPase activity ovary(2) 2 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) GCAGCTATTGGTGAACCAGCA 0.478 8 58 --- --- --- --- PASS ARHGAP29 9411 broad.mit.edu 37 1 94668516 94668516 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:94668516C>A uc001dqj.3 - 10 1281 c.912G>T c.(910-912)AGG>AGT p.R304S ARHGAP29_uc009wdq.1_RNA|ARHGAP29_uc001dql.2_Missense_Mutation_p.R304S NM_004815 NP_004806 Q52LW3 RHG29_HUMAN PTPL1-associated RhoGAP 1 304 Potential. Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity breast(4)|skin(3)|lung(2)|upper_aerodigestive_tract(1)|ovary(1) 11 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TTATTTCTTTCCTTTGTTTTT 0.308 8 65 --- --- --- --- PASS C1orf103 55791 broad.mit.edu 37 1 111494390 111494390 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:111494390T>A uc001eaa.2 - 2 1372 c.1116A>T c.(1114-1116)ACA>ACT p.T372T C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron NM_018372 NP_060842 Q5T3J3 LRIF1_HUMAN receptor-interacting factor 1 isoform 1 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding 0 all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451) Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134) GCAGAACATCTGTCCCCTTTT 0.408 23 145 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115399895 115399895 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:115399895A>T uc001efr.2 + 4 445 c.236A>T c.(235-237)CAG>CTG p.Q79L SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.Q79L|SYCP1_uc009wgw.2_Missense_Mutation_p.Q79L NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 79 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGCTTGAGCAGGTCAGTTAA 0.308 6 21 --- --- --- --- PASS SYCP1 6847 broad.mit.edu 37 1 115537564 115537564 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:115537564G>C uc001efr.2 + 32 3064 c.2855G>C c.(2854-2856)CGG>CCG p.R952P SYCP1_uc010owt.1_RNA|SYCP1_uc001efq.2_Missense_Mutation_p.R952P|SYCP1_uc009wgw.2_Missense_Mutation_p.R927P NM_003176 NP_003167 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 952 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) AGAAAAATGCGGGAGGACCGT 0.333 15 32 --- --- --- --- PASS IGSF3 3321 broad.mit.edu 37 1 117150580 117150580 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:117150580G>T uc001egr.1 - 5 1911 c.1206C>A c.(1204-1206)ATC>ATA p.I402I IGSF3_uc001egq.1_Silent_p.I402I|IGSF3_uc001egs.1_Silent_p.I75I NM_001007237 NP_001007238 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 isoform 2 402 Ig-like C2-type 4.|Extracellular (Potential). integral to membrane ovary(2) 2 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) GGAGGACTATGATGGGGATGT 0.502 4 66 --- --- --- --- PASS PTGFRN 5738 broad.mit.edu 37 1 117527364 117527364 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:117527364G>T uc001egv.1 + 8 2367 c.2230G>T c.(2230-2232)GTG>TTG p.V744L NM_020440 NP_065173 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor negative regulator 744 Ig-like C2-type 6.|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) CAAGGCTCCTGTGCTCCTGTC 0.572 15 31 --- --- --- --- PASS MAN1A2 10905 broad.mit.edu 37 1 118035780 118035780 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:118035780G>T uc001ehd.1 + 9 1901 c.1180G>T c.(1180-1182)GTC>TTC p.V394F MAN1A2_uc009whg.1_Missense_Mutation_p.V184F NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 394 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TCATACATCTGTCGGTGGCCT 0.363 11 23 --- --- --- --- PASS NBPF16 728936 broad.mit.edu 37 1 148753320 148753320 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:148753320C>T uc010pba.1 + 12 1528 c.1337C>T c.(1336-1338)ACT>ATT p.T446I NBPF16_uc009wkt.1_Missense_Mutation_p.T226I NM_001102663 NP_001096133 hypothetical protein LOC728936 0 all_hematologic(923;0.032) TGTTATTCGACTCCTTCAGAT 0.473 3 44 --- --- --- --- PASS FLG 2312 broad.mit.edu 37 1 152275921 152275921 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:152275921C>T uc001ezu.1 - 3 11477 c.11441G>A c.(11440-11442)CGT>CAT p.R3814H NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3814 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) TTCCTCATTACGTGTTTCTCT 0.577 Ichthyosis 50 355 --- --- --- --- PASS KPRP 448834 broad.mit.edu 37 1 152732892 152732892 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:152732892G>T uc001fal.1 + 2 886 c.828G>T c.(826-828)GAG>GAT p.E276D NM_001025231 NP_001020402 Q5T749 KPRP_HUMAN keratinocyte proline-rich protein 276 Pro-rich. cytoplasm ovary(4)|pancreas(1) 5 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) GACGTTTTGAGCCCTGCTCCA 0.592 7 36 --- --- --- --- PASS SNAPIN 23557 broad.mit.edu 37 1 153631258 153631258 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:153631258G>T uc001fcq.2 + 1 114 c.39G>T c.(37-39)GGG>GGT p.G13G NM_012437 NP_036569 O95295 SNAPN_HUMAN SNAP-associated protein 13 intracellular protein transport|synaptic vesicle exocytosis BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome SNARE binding 0 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) CGGGGGCAGGGACCCCGGTGG 0.716 3 6 --- --- --- --- PASS GON4L 54856 broad.mit.edu 37 1 155735075 155735075 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:155735075G>A uc001flz.2 - 21 4286 c.4189C>T c.(4189-4191)CCT>TCT p.P1397S GON4L_uc009wrg.1_RNA|GON4L_uc001fly.1_Missense_Mutation_p.P1397S|GON4L_uc009wrh.1_Missense_Mutation_p.P1397S|GON4L_uc001fma.1_Missense_Mutation_p.P1397S|GON4L_uc001fmb.3_Missense_Mutation_p.P593S|GON4L_uc001fmc.2_Missense_Mutation_p.P1397S|GON4L_uc001fmd.3_Missense_Mutation_p.P1397S|GON4L_uc009wri.2_Missense_Mutation_p.P983S NM_001037533 NP_001032622 Q3T8J9 GON4L_HUMAN gon-4-like isoform a 1397 regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(3) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195) CCTTCATCAGGGGGCTCTTGA 0.488 12 80 --- --- --- --- PASS OR10K1 391109 broad.mit.edu 37 1 158436059 158436059 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:158436059G>T uc010pij.1 + 1 708 c.708G>T c.(706-708)AAG>AAT p.K236N NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) GAAGATACAAGACCTTCTCCA 0.453 10 50 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158648278 158648278 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:158648278A>G uc001fst.1 - 6 924 c.725T>C c.(724-726)GTG>GCG p.V242A NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 242 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGCAGCATTCACCTCATTTTG 0.428 6 46 --- --- --- --- PASS MNDA 4332 broad.mit.edu 37 1 158815668 158815668 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:158815668G>T uc001fsz.1 + 5 1062 c.862G>T c.(862-864)GAC>TAC p.D288Y NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 288 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) ATCTGTGTCTGACTTTAATCA 0.343 11 72 --- --- --- --- PASS LMX1A 4009 broad.mit.edu 37 1 165322360 165322360 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:165322360G>A uc001gcy.1 - 2 437 c.216C>T c.(214-216)ACC>ACT p.T72T LMX1A_uc001gcz.1_Silent_p.T72T NM_177398 NP_796372 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 72 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(3)|upper_aerodigestive_tract(1)|pancreas(1) 5 all_hematologic(923;0.248) GGTAGAAGCAGGTGGTCTCCA 0.607 20 39 --- --- --- --- PASS LRRC52 440699 broad.mit.edu 37 1 165513549 165513549 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:165513549G>T uc001gde.2 + 1 72 c.16G>T c.(16-18)GGC>TGC p.G6C LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.2_Intron NM_001005214 NP_001005214 Q8N7C0 LRC52_HUMAN leucine rich repeat containing 52 precursor 6 integral to membrane ovary(1) 1 all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155) CCTTGCTTCAGGCCCTGGCCC 0.557 11 74 --- --- --- --- PASS DUSP27 92235 broad.mit.edu 37 1 167097464 167097464 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:167097464C>A uc001geb.1 + 5 3096 c.3096C>A c.(3094-3096)TCC>TCA p.S1032S NM_001080426 NP_001073895 Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 1032 Ser-rich. protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity ovary(3) 3 CCTCAAGTTCCCGAGAGGAGA 0.572 11 31 --- --- --- --- PASS SLC9A11 284525 broad.mit.edu 37 1 173569255 173569255 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:173569255C>A uc001giz.2 - 3 651 c.228_splice c.e3+1 p.E76_splice SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 ACATACAGTACCTCAACAGAA 0.353 7 29 --- --- --- --- PASS ASTN1 460 broad.mit.edu 37 1 176838113 176838113 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:176838113C>A uc001glc.2 - 22 3726 c.3514G>T c.(3514-3516)GAG>TAG p.E1172* ASTN1_uc001glb.1_Nonsense_Mutation_p.E1172*|ASTN1_uc001gld.1_Nonsense_Mutation_p.E1172* NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1180 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GTCTGCTGCTCCTTCCCACTA 0.428 6 41 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177249890 177249890 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:177249890G>T uc001glf.2 + 8 1890 c.1578G>T c.(1576-1578)GAG>GAT p.E526D FAM5B_uc001glg.2_Missense_Mutation_p.E421D NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 526 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 GCCGCATTGAGGTACACTCCA 0.547 4 18 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250164 177250164 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:177250164G>C uc001glf.2 + 8 2164 c.1852G>C c.(1852-1854)GTG>CTG p.V618L FAM5B_uc001glg.2_Missense_Mutation_p.V513L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 618 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 AAGGACTAACGTGGATGCAGC 0.517 5 19 --- --- --- --- PASS ACBD6 84320 broad.mit.edu 37 1 180366651 180366651 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:180366651C>A uc001gog.2 - 6 1284 c.663G>T c.(661-663)CAG>CAT p.Q221H NM_032360 NP_115736 Q9BR61 ACBD6_HUMAN acyl-coenzyme A binding domain containing 6 221 cytoplasm|nucleus fatty-acyl-CoA binding ovary(1) 1 TCACTCTTACCTGACAGTTAA 0.274 17 137 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181727124 181727124 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:181727124C>A uc001gow.2 + 31 4536 c.4371C>A c.(4369-4371)ACC>ACA p.T1457T CACNA1E_uc009wxs.2_Silent_p.T1345T|CACNA1E_uc001gox.1_Silent_p.T683T|CACNA1E_uc009wxt.2_Silent_p.T683T NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1457 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 AACCTCTCACCCGCTACATGC 0.522 6 57 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186076015 186076015 + Splice_Site SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:186076015G>A uc001grq.1 + 70 11000 c.10771_splice c.e70-1 p.V3591_splice NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GGGTTTTGTAGGTGGAGGATA 0.333 12 70 --- --- --- --- PASS TPR 7175 broad.mit.edu 37 1 186329965 186329965 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:186329965T>A uc001grv.2 - 10 1328 c.1031A>T c.(1030-1032)GAG>GTG p.E344V TPR_uc010pop.1_Missense_Mutation_p.E420V NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 344 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CCCTATTTTCTCAAGCATTTC 0.348 T NTRK1 papillary thyroid 7 35 --- --- --- --- PASS B3GALT2 8707 broad.mit.edu 37 1 193149618 193149618 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:193149618G>C uc001gtc.3 - 2 1790 c.1075C>G c.(1075-1077)CCC>GCC p.P359A CDC73_uc001gtb.2_Intron NM_003783 NP_003774 O43825 B3GT2_HUMAN UDP-Gal:betaGlcNAc beta 359 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity ovary(1) 1 AACTCATTGGGAGGGGGTACA 0.413 6 41 --- --- --- --- PASS LMOD1 25802 broad.mit.edu 37 1 201915297 201915297 + Nonsense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:201915297G>A uc001gxb.2 - 1 420 c.172C>T c.(172-174)CAG>TAG p.Q58* LMOD1_uc010ppu.1_Nonsense_Mutation_p.Q58* NM_012134 NP_036266 P29536 LMOD1_HUMAN leiomodin 1 (smooth muscle) 58 muscle contraction cytoskeleton|cytosol|membrane fraction tropomyosin binding ovary(1)|pancreas(1)|skin(1) 3 CCCGTGGACTGTTTCTCCGTC 0.572 13 48 --- --- --- --- PASS OPTC 26254 broad.mit.edu 37 1 203472827 203472827 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:203472827C>A uc001gzu.1 + 7 1094 c.978C>A c.(976-978)CTC>CTA p.L326L NM_014359 NP_055174 Q9UBM4 OPT_HUMAN opticin precursor 326 proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding 0 BRCA - Breast invasive adenocarcinoma(75;0.109) TGCCTCGGCTCCCCATCGGCC 0.617 6 21 --- --- --- --- PASS CNTN2 6900 broad.mit.edu 37 1 205039104 205039104 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:205039104G>T uc001hbr.2 + 18 2615 c.2346G>T c.(2344-2346)ACG>ACT p.T782T CNTN2_uc001hbq.1_Silent_p.T673T|CNTN2_uc001hbs.2_Silent_p.T570T NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 782 Fibronectin type-III 2. 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) GGCCCTACACGCCCTTTGAGG 0.662 8 42 --- --- --- --- PASS CR1 1378 broad.mit.edu 37 1 207741317 207741317 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:207741317C>G uc001hfy.2 + 17 2891 c.2751C>G c.(2749-2751)ACC>ACG p.T917T CR1_uc009xcl.1_Silent_p.T467T|CR1_uc001hfx.2_Silent_p.T1367T|CR1_uc009xck.1_Silent_p.T467T NM_000573 NP_000564 P17927 CR1_HUMAN complement receptor 1 isoform F precursor 917 Extracellular (Potential).|Sushi 14. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity ovary(3) 3 GAGAGAGCACCATCCGCTGCA 0.537 13 73 --- --- --- --- PASS HSD11B1 3290 broad.mit.edu 37 1 209880159 209880159 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:209880159C>T uc001hhj.2 + 4 432 c.325C>T c.(325-327)CTC>TTC p.L109F HSD11B1_uc001hhk.2_Missense_Mutation_p.L109F NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 109 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) AGCAGGAAAGCTCATGGGTGA 0.527 16 87 --- --- --- --- PASS TRAF3IP3 80342 broad.mit.edu 37 1 209948944 209948944 + Silent SNP C A A rs113331659 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:209948944C>A uc001hho.2 + 11 1206 c.916C>A c.(916-918)CGA>AGA p.R306R TRAF3IP3_uc001hhl.2_Silent_p.R286R|TRAF3IP3_uc001hhm.1_Silent_p.R306R|TRAF3IP3_uc001hhn.2_Silent_p.R286R|TRAF3IP3_uc009xcr.2_Silent_p.R306R NM_025228 NP_079504 Q9Y228 T3JAM_HUMAN TRAF3-interacting JNK-activating modulator 306 Cytoplasmic (Potential).|Potential. integral to membrane protein binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.045) TCTCCCTCAGCGATCCCTGGC 0.617 8 39 --- --- --- --- PASS ATF3 467 broad.mit.edu 37 1 212788546 212788546 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:212788546G>A uc001hjf.2 + 2 316 c.183G>A c.(181-183)GCG>GCA p.A61A ATF3_uc001hjj.2_Silent_p.A61A|ATF3_uc009xdg.1_Intron|ATF3_uc001hjh.2_Silent_p.A61A|ATF3_uc001hji.2_Silent_p.A61A|ATF3_uc010ptg.1_RNA NM_001030287 NP_001025458 P18847 ATF3_HUMAN activating transcription factor 3 isoform 1 61 nucleolus identical protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933) TGTCCTCTGCGCTGGAATCAG 0.478 6 26 --- --- --- --- PASS PROX1 5629 broad.mit.edu 37 1 214170585 214170585 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:214170585G>T uc001hkh.2 + 2 979 c.707G>T c.(706-708)CGC>CTC p.R236L PROX1_uc001hkg.1_Missense_Mutation_p.R236L NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 236 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) CGAGAGGAGCGCCGACAGCTG 0.498 4 27 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 215844535 215844535 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:215844535G>T uc001hku.1 - 64 14299 c.13912C>A c.(13912-13914)CCA>ACA p.P4638T NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 4638 Fibronectin type-III 32.|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) TCCAGATGTGGAGGGGGTTGC 0.483 HNSCC(13;0.011) 11 59 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216462640 216462640 + Silent SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:216462640A>T uc001hku.1 - 11 2340 c.1953T>A c.(1951-1953)GGT>GGA p.G651G USH2A_uc001hkv.2_Silent_p.G651G NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 651 Extracellular (Potential).|Laminin EGF-like 3. 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) AAAGAATGCTACCATTTCTAG 0.403 HNSCC(13;0.011) 12 52 --- --- --- --- PASS ESRRG 2104 broad.mit.edu 37 1 216741400 216741400 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:216741400G>T uc001hkw.1 - 4 796 c.630C>A c.(628-630)TAC>TAA p.Y210* ESRRG_uc001hky.1_Nonsense_Mutation_p.Y187*|ESRRG_uc009xdp.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hkz.1_Nonsense_Mutation_p.Y148*|ESRRG_uc010puc.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hla.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hlb.1_Nonsense_Mutation_p.Y187*|ESRRG_uc010pud.1_Nonsense_Mutation_p.Y18*|ESRRG_uc001hlc.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hld.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hkx.1_Nonsense_Mutation_p.Y215*|ESRRG_uc009xdo.1_Nonsense_Mutation_p.Y187*|ESRRG_uc001hle.1_Nonsense_Mutation_p.Y187* NM_001438 NP_001429 P62508 ERR3_HUMAN estrogen-related receptor gamma isoform 1 210 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1)|kidney(1) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TCCTGCGCTTGTACTTCTGCC 0.512 7 51 --- --- --- --- PASS SPATA17 128153 broad.mit.edu 37 1 217842374 217842374 + Splice_Site SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:217842374G>C uc001hlh.1 + 4 267 c.241_splice c.e4-1 p.V81_splice SPATA17_uc009xdr.1_Splice_Site|SPATA17_uc001hli.2_Splice_Site_p.V81_splice NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) TTGATTCACAGGTAGCATATT 0.313 15 79 --- --- --- --- PASS DUSP10 11221 broad.mit.edu 37 1 221912285 221912285 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:221912285C>A uc001hmy.1 - 2 984 c.802G>T c.(802-804)GTG>TTG p.V268L DUSP10_uc001hmx.1_5'Flank|DUSP10_uc001hmz.1_Intron NM_007207 NP_009138 Q9Y6W6 DUS10_HUMAN dual specificity phosphatase 10 isoform a 268 Rhodanese. inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade Golgi apparatus|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|lung(1) 2 GBM - Glioblastoma multiforme(131;0.0103) CCTTTCAACACCAGAGGTTCT 0.507 7 67 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222700356 222700356 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:222700356G>T uc001hnh.1 - 7 1818 c.1760C>A c.(1759-1761)GCC>GAC p.A587D NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 587 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) TGGTGCATAGGCACTTGGGTA 0.433 4 14 --- --- --- --- PASS HHIPL2 79802 broad.mit.edu 37 1 222715457 222715457 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:222715457C>A uc001hnh.1 - 3 1073 c.1015G>T c.(1015-1017)GGC>TGC p.G339C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 339 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) AGTTGTCCGCCATTATGGTTT 0.473 5 33 --- --- --- --- PASS DISP1 84976 broad.mit.edu 37 1 223178402 223178402 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:223178402C>T uc001hnu.1 + 8 3810 c.3663C>T c.(3661-3663)AAC>AAT p.N1221N NM_032890 NP_116279 Q96F81 DISP1_HUMAN dispatched A 1221 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity 0 GBM - Glioblastoma multiforme(131;0.102) AATTTTTCAACAGCCAAGCAA 0.478 8 52 --- --- --- --- PASS TP53BP2 7159 broad.mit.edu 37 1 223989849 223989849 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:223989849G>A uc010pvb.1 - 9 1486 c.1194C>T c.(1192-1194)AAC>AAT p.N398N TP53BP2_uc001hod.2_Silent_p.N269N|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_Silent_p.N37N NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 392 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) CAGATCTCATGTTGGGCAGTG 0.493 12 66 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228469829 228469829 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:228469829A>T uc009xez.1 + 31 8437 c.8393A>T c.(8392-8394)GAG>GTG p.E2798V OBSCN_uc001hsn.2_Missense_Mutation_p.E2798V|OBSCN_uc001hsp.1_Missense_Mutation_p.E497V|OBSCN_uc001hsq.1_Missense_Mutation_p.E54V NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2798 Ig-like 27. 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) GTGGTCCGGGAGGCTGCACCA 0.652 4 9 --- --- --- --- PASS C1orf198 84886 broad.mit.edu 37 1 230979363 230979363 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:230979363C>A uc001hub.2 - 3 708 c.664G>T c.(664-666)GAA>TAA p.E222* C1orf198_uc009xfh.1_Nonsense_Mutation_p.E92*|C1orf198_uc001huc.1_Nonsense_Mutation_p.E5*|C1orf198_uc001hud.1_Nonsense_Mutation_p.E184* NM_032800 NP_116189 Q9H425 CA198_HUMAN hypothetical protein LOC84886 isoform 1 222 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) AAGACCTTTTCCCCCTTCTCC 0.627 9 62 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232575113 232575113 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:232575113T>A uc001hvg.2 - 13 3930 c.3772A>T c.(3772-3774)ATC>TTC p.I1258F SIPA1L2_uc001hvf.2_Missense_Mutation_p.I332F NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 1258 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) GCCCCTTTGATGTAGGTCAGC 0.622 5 32 --- --- --- --- PASS SIPA1L2 57568 broad.mit.edu 37 1 232579347 232579347 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:232579347C>A uc001hvg.2 - 10 3595 c.3437_splice c.e10+1 p.G1146_splice SIPA1L2_uc001hvf.2_Splice_Site_p.G220_splice NM_020808 NP_065859 Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1) 6 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) ATGAACAGTACCCGTCGTAGC 0.527 4 18 --- --- --- --- PASS EDARADD 128178 broad.mit.edu 37 1 236645625 236645625 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:236645625G>T uc001hxu.1 + 6 389 c.324G>T c.(322-324)CGG>CGT p.R108R EDARADD_uc001hxv.1_Silent_p.R98R NM_145861 NP_665860 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain isoform A 108 cell differentiation|signal transduction cytoplasm 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) GCTTGCTCCGGGCCCCCACCA 0.488 9 29 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237941988 237941988 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:237941988A>G uc001hyl.1 + 88 11918 c.11798A>G c.(11797-11799)CAG>CGG p.Q3933R RYR2_uc010pya.1_Missense_Mutation_p.Q348R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3933 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) GGGAATCAACAGAGTTTGGCA 0.448 5 21 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237947713 237947713 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:237947713C>G uc001hyl.1 + 90 12821 c.12701C>G c.(12700-12702)GCT>GGT p.A4234G RYR2_uc010pya.1_Missense_Mutation_p.A649G NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4234 Helical; Name=M3; (Potential). 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) CCGAGGATGGCTTTCTTCTCC 0.552 4 11 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240978064 240978064 + Missense_Mutation SNP T G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:240978064T>G uc001hyv.2 - 12 1127 c.797A>C c.(796-798)CAA>CCA p.Q266P RGS7_uc010pyh.1_Missense_Mutation_p.Q240P|RGS7_uc010pyj.1_Missense_Mutation_p.Q182P|RGS7_uc001hyu.2_Missense_Mutation_p.Q266P|RGS7_uc009xgn.1_Missense_Mutation_p.Q213P|RGS7_uc001hyw.2_Missense_Mutation_p.Q266P|RGS7_uc001hyt.2_Missense_Mutation_p.Q98P NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 266 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TAACTGTATTTGCCAATATTT 0.318 11 71 --- --- --- --- PASS KMO 8564 broad.mit.edu 37 1 241753539 241753539 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:241753539G>A uc009xgp.2 + 14 1299 c.1234G>A c.(1234-1236)GTG>ATG p.V412M KMO_uc001hyy.2_Missense_Mutation_p.V399M|KMO_uc009xgo.1_Missense_Mutation_p.V412M NM_003679 NP_003670 O15229 KMO_HUMAN kynurenine 3-monooxygenase 412 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity ovary(2) 2 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) CCATGAGGCTGTGCAGCGTTG 0.318 12 69 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248031145 248031145 + Splice_Site SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:248031145A>T uc001ido.2 + 4 796 c.748_splice c.e4-2 p.G250_splice OR2W3_uc001idp.1_5'Flank NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 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;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TTTCCTTTTCAGGGTGTGAGA 0.463 7 29 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436853 248436853 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:248436853C>A uc010pzi.1 - 1 264 c.264G>T c.(262-264)AAG>AAT p.K88N NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) GGGAGATGGCCTTACTTCCGG 0.567 16 83 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685066 248685066 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:248685066T>C uc001ien.1 + 1 119 c.119T>C c.(118-120)CTG>CCG p.L40P NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 40 Helical; Name=1; (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) TTGAGCCTTCTGGGGAACACT 0.463 9 52 --- --- --- --- PASS PGBD2 267002 broad.mit.edu 37 1 249211704 249211704 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr1:249211704G>T uc001ifh.2 + 3 1068 c.921G>T c.(919-921)GTG>GTT p.V307V PGBD2_uc001ifg.2_Silent_p.V56V|PGBD2_uc009xhd.2_Silent_p.V304V NM_170725 NP_733843 Q6P3X8 PGBD2_HUMAN hypothetical protein LOC267002 isoform a 307 ovary(1) 1 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) GCTACTTGGTGTGGTTTGAGC 0.542 7 57 --- --- --- --- PASS TPO 7173 broad.mit.edu 37 2 1544421 1544421 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:1544421C>T uc002qww.2 + 16 2765 c.2674C>T c.(2674-2676)CCC>TCC p.P892S TPO_uc010ewj.2_Intron|TPO_uc002qwu.2_Missense_Mutation_p.P835S|TPO_uc002qwr.2_Missense_Mutation_p.P892S|TPO_uc002qwx.2_Missense_Mutation_p.P835S|TPO_uc010yio.1_Missense_Mutation_p.P719S|TPO_uc010yip.1_Missense_Mutation_p.P848S|TPO_uc002qwy.1_Missense_Mutation_p.P188S|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 892 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) CGGAGGAACTCCCGAGCTGAG 0.642 18 45 --- --- --- --- PASS PXDN 7837 broad.mit.edu 37 2 1680758 1680758 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:1680758C>A uc002qxa.2 - 8 853 c.789G>T c.(787-789)GTG>GTT p.V263V PXDN_uc002qxb.1_Silent_p.V263V|PXDN_uc002qxc.1_Silent_p.V80V NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 263 Ig-like C2-type 1. extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) AGGTGAAGTACACGGTGTTCC 0.552 3 7 --- --- --- --- PASS HS1BP3 64342 broad.mit.edu 37 2 20838383 20838383 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:20838383T>A uc002rdw.1 - 4 477 c.436A>T c.(436-438)ACC>TCC p.T146S HS1BP3_uc002rdx.2_Missense_Mutation_p.T146S NM_022460 NP_071905 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 146 cell communication phosphatidylinositol binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTCTGCTGGTGAGCCCTGCA 0.542 7 25 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33567903 33567903 + Splice_Site SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:33567903A>C uc002ros.2 + 25 3734 c.3734_splice c.e25-2 p.D1245_splice LTBP1_uc002rot.2_Splice_Site_p.D919_splice|LTBP1_uc002rou.2_Splice_Site_p.D918_splice|LTBP1_uc002rov.2_Splice_Site_p.D865_splice|LTBP1_uc010ymz.1_Intron|LTBP1_uc010yna.1_Intron|LTBP1_uc010ynb.1_Intron NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 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) TCTTTTTTGCAGATATTGATG 0.418 24 88 --- --- --- --- PASS THADA 63892 broad.mit.edu 37 2 43625176 43625176 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:43625176C>G uc002rsw.3 - 29 4513 c.4161G>C c.(4159-4161)TTG>TTC p.L1387F THADA_uc010far.2_Missense_Mutation_p.L582F|THADA_uc002rsx.3_Missense_Mutation_p.L1387F|THADA_uc002rsy.3_RNA|THADA_uc010fas.1_RNA|THADA_uc002rsz.2_Missense_Mutation_p.L1096F|THADA_uc010fat.1_Missense_Mutation_p.L534F NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1387 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) GGAGTGTGGACAACAGAGTTC 0.478 11 48 --- --- --- --- PASS PRKCE 5581 broad.mit.edu 37 2 46386887 46386887 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:46386887G>T uc002rut.2 + 14 2260 c.2063G>T c.(2062-2064)CGC>CTC p.R688L NM_005400 NP_005391 Q02156 KPCE_HUMAN protein kinase C, epsilon 688 AGC-kinase C-terminal. activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation cytosol|endoplasmic reticulum|plasma membrane ATP binding|enzyme activator activity|metal ion binding|signal transducer activity lung(4)|ovary(3)|kidney(1)|breast(1)|large_intestine(1) 10 all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209) LUSC - Lung squamous cell carcinoma(58;0.171) TTCAAACCACGCATTGTAAGT 0.572 19 48 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49189950 49189950 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:49189950G>A uc002rww.2 - 10 2084 c.2010C>T c.(2008-2010)GGC>GGT p.G670G FSHR_uc002rwx.2_Silent_p.G608G|FSHR_uc010fbn.2_Silent_p.G644G NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 670 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAGAGCAGTGGCCATTCCTTG 0.438 Gonadal_Dysgenesis_46_XX 13 49 --- --- --- --- PASS C2orf63 130162 broad.mit.edu 37 2 55436852 55436852 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:55436852C>G uc002ryi.2 - 6 961 c.615G>C c.(613-615)CAG>CAC p.Q205H C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Missense_Mutation_p.Q83H NM_152385 NP_689598 Q8NHS4 CB063_HUMAN hypothetical protein LOC130162 isoform 1 205 Potential. binding ovary(2)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189) CAGCCTTCCTCTGAGCTGGCA 0.328 11 44 --- --- --- --- PASS FIGLA 344018 broad.mit.edu 37 2 71012642 71012642 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:71012642C>G uc002she.1 - 3 519 c.514G>C c.(514-516)GGG>CGG p.G172R NM_001004311 NP_001004311 Q6QHK4 FIGLA_HUMAN factor in the germline alpha 172 multicellular organismal development|oocyte development|regulation of transcription, DNA-dependent|transcription, DNA-dependent transcription factor complex DNA binding|transcription factor binding 0 GCCCAAGGCCCTTCCTCTTCA 0.488 15 210 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71797850 71797850 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:71797850C>A uc002sie.2 + 29 3529 c.3153C>A c.(3151-3153)AGC>AGA p.S1051R DYSF_uc010feg.2_Missense_Mutation_p.S1082R|DYSF_uc010feh.2_Missense_Mutation_p.S1037R|DYSF_uc002sig.3_Missense_Mutation_p.S1037R|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.S1051R|DYSF_uc010fef.2_Missense_Mutation_p.S1068R|DYSF_uc010fei.2_Missense_Mutation_p.S1068R|DYSF_uc010fek.2_Missense_Mutation_p.S1069R|DYSF_uc010fej.2_Missense_Mutation_p.S1038R|DYSF_uc010fel.2_Missense_Mutation_p.S1038R|DYSF_uc010feo.2_Missense_Mutation_p.S1083R|DYSF_uc010fem.2_Missense_Mutation_p.S1052R|DYSF_uc010fen.2_Missense_Mutation_p.S1069R|DYSF_uc002sif.2_Missense_Mutation_p.S1052R NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1051 Cytoplasmic (Potential).|Arg-rich. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGGATCTCAGCCAAATGGAAG 0.637 7 21 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73676776 73676776 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:73676776A>T uc002sje.1 + 10 3236 c.3125A>T c.(3124-3126)GAG>GTG p.E1042V ALMS1_uc002sjf.1_Missense_Mutation_p.E998V|ALMS1_uc002sjg.2_Missense_Mutation_p.E428V|ALMS1_uc002sjh.1_Missense_Mutation_p.E428V NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 1040 34 X 47 AA approximate tandem repeat.|11. 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 CAGAAGACTGAGATACCAGCA 0.468 44 80 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73800227 73800227 + Missense_Mutation SNP G T T rs28730859 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:73800227G>T uc002sje.1 + 18 11337 c.11226G>T c.(11224-11226)GAG>GAT p.E3742D ALMS1_uc002sjf.1_Missense_Mutation_p.E3698D|ALMS1_uc002sjg.2_Missense_Mutation_p.E3128D|ALMS1_uc002sjh.1_Missense_Mutation_p.E3128D NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3740 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 GGCCCTCAGAGGAGAGTGAGC 0.393 13 41 --- --- --- --- PASS ALMS1 7840 broad.mit.edu 37 2 73800228 73800228 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:73800228G>T uc002sje.1 + 18 11338 c.11227G>T c.(11227-11229)GAG>TAG p.E3743* ALMS1_uc002sjf.1_Nonsense_Mutation_p.E3699*|ALMS1_uc002sjg.2_Nonsense_Mutation_p.E3129*|ALMS1_uc002sjh.1_Nonsense_Mutation_p.E3129* NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3741 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 GCCCTCAGAGGAGAGTGAGCT 0.393 13 40 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 90139486 90139486 + RNA SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:90139486G>A uc010fhm.2 + 18 c.2279G>A Parts of antibodies, mostly variable regions. AGGTTCAGCGGCAGTGGATCT 0.493 41 82 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96968949 96968949 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:96968949C>A uc002svu.2 - 3 415 c.329G>T c.(328-330)CGG>CTG p.R110L NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 110 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 ATAGGTCTCCCGAGTCTCTTT 0.408 101 222 --- --- --- --- PASS TMEM131 23505 broad.mit.edu 37 2 98411438 98411438 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:98411438G>A uc002syh.3 - 29 3570 c.3341C>T c.(3340-3342)CCT>CTT p.P1114L NM_015348 NP_056163 Q92545 TM131_HUMAN RW1 protein 1114 integral to membrane ovary(4)|central_nervous_system(2) 6 TTCCCAGTTAGGTCTGGGTAG 0.348 3 15 --- --- --- --- PASS RALB 5899 broad.mit.edu 37 2 121050722 121050722 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:121050722C>A uc002tmk.2 + 5 697 c.507C>A c.(505-507)TTC>TTA p.F169L RALB_uc010yys.1_Missense_Mutation_p.F191L|RALB_uc002tml.2_Missense_Mutation_p.F190L|RALB_uc002tmm.2_RNA|RALB_uc010yyt.1_RNA NM_002881 NP_002872 P11234 RALB_HUMAN v-ral simian leukemia viral oncogene homolog B 169 apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of exocyst assembly|regulation of exocyst localization cytosol|midbody|plasma membrane GTP binding|GTPase activity|protein binding lung(3) 3 Prostate(154;0.122) CCCAGGTGTTCTTTGACCTAA 0.343 9 30 --- --- --- --- PASS SMPD4 55627 broad.mit.edu 37 2 130914946 130914946 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:130914946C>A uc002tqq.1 - 12 1612 c.1092G>T c.(1090-1092)GAG>GAT p.E364D SMPD4_uc002tqo.1_5'UTR|SMPD4_uc002tqp.1_Missense_Mutation_p.E57D|SMPD4_uc010yzy.1_Missense_Mutation_p.E113D|SMPD4_uc010yzz.1_Missense_Mutation_p.E28D|SMPD4_uc002tqr.1_Missense_Mutation_p.E335D|SMPD4_uc002tqs.1_Missense_Mutation_p.E232D|SMPD4_uc002tqt.1_Missense_Mutation_p.E213D|SMPD4_uc010zaa.1_Missense_Mutation_p.E222D|SMPD4_uc010zab.1_Missense_Mutation_p.E262D|SMPD4_uc010zac.1_Missense_Mutation_p.E105D|SMPD4_uc010zad.1_Intron NM_017951 NP_060421 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4 isoform 2 325 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity 0 Colorectal(110;0.1) Phosphatidylserine(DB00144) CCAACACATGCTCCTCAGTAG 0.642 3 5 --- --- --- --- PASS PTPN18 26469 broad.mit.edu 37 2 131128159 131128159 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:131128159G>A uc002trc.2 + 9 820 c.719G>A c.(718-720)TGC>TAC p.C240Y PTPN18_uc002trd.2_Missense_Mutation_p.C219Y|PTPN18_uc002trb.2_Missense_Mutation_p.C133Y|PTPN18_uc002tre.2_5'Flank NM_014369 NP_055184 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 240 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity ovary(3)|kidney(1) 4 Colorectal(110;0.1) GGCGTCCTGTGCACCGTGGAT 0.572 17 57 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136552210 136552210 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:136552210C>A uc002tuu.1 - 14 5122 c.5111_splice c.e14+1 p.R1704_splice NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) GGTGGACTTACCTGTCTGCAT 0.537 18 34 --- --- --- --- PASS HNMT 3176 broad.mit.edu 37 2 138759758 138759758 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:138759758G>T uc002tvc.2 + 5 571 c.423G>T c.(421-423)ATG>ATT p.M141I HNMT_uc002tvf.2_Missense_Mutation_p.M141I NM_006895 NP_008826 P50135 HNMT_HUMAN histamine N-methyltransferase isoform 1 141 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TTATTCATATGATTCAAGTAA 0.279 4 20 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141108547 141108547 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:141108547G>T uc002tvj.1 - 77 12683 c.11711C>A c.(11710-11712)CCA>CAA p.P3904Q NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3904 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTAGTTGAATGGATATATAAA 0.284 TSP Lung(27;0.18) 20 104 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141459804 141459804 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:141459804C>A uc002tvj.1 - 39 7180 c.6208G>T c.(6208-6210)GAG>TAG p.E2070* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2070 Extracellular (Potential).|LDL-receptor class B 22. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CCTCCAGTCTCAAGGTCGATT 0.408 TSP Lung(27;0.18) 27 71 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 142012191 142012191 + Silent SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:142012191T>C uc002tvj.1 - 4 1335 c.363A>G c.(361-363)CAA>CAG p.Q121Q LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 121 Extracellular (Potential).|EGF-like 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATTCAGCTGTTGGCAATTGG 0.318 TSP Lung(27;0.18) 7 39 --- --- --- --- PASS GTDC1 79712 broad.mit.edu 37 2 144899453 144899453 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:144899453T>A uc002tvp.2 - 6 796 c.517A>T c.(517-519)AGC>TGC p.S173C GTDC1_uc002tvo.2_Missense_Mutation_p.S173C|GTDC1_uc002tvq.2_Missense_Mutation_p.S173C|GTDC1_uc002tvr.2_Missense_Mutation_p.S173C|GTDC1_uc010fnn.2_Missense_Mutation_p.S173C|GTDC1_uc002tvs.2_Missense_Mutation_p.S141C|GTDC1_uc010fno.2_Missense_Mutation_p.S44C|GTDC1_uc002tvt.1_Missense_Mutation_p.S173C NM_001006636 NP_001006637 Q4AE62 GTDC1_HUMAN glycosyltransferase-like domain containing 1 173 biosynthetic process transferase activity, transferring glycosyl groups ovary(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.0914) ACTGACCTGCTCACATCAGGA 0.368 18 58 --- --- --- --- PASS ACVR2A 92 broad.mit.edu 37 2 148680584 148680584 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:148680584G>T uc002twg.2 + 10 1389 c.1120G>T c.(1120-1122)GCT>TCT p.A374S ACVR2A_uc010zbn.1_Missense_Mutation_p.A266S|ACVR2A_uc002twh.2_Missense_Mutation_p.A374S NM_001616 NP_001607 P27037 AVR2A_HUMAN activin A receptor, type IIA precursor 374 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) ATTAGAGGGTGCTATAAACTT 0.408 38 125 --- --- --- --- PASS BAZ2B 29994 broad.mit.edu 37 2 160335088 160335088 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:160335088C>T uc002uao.2 - 3 495 c.143G>A c.(142-144)TGT>TAT p.C48Y BAZ2B_uc002uap.2_Missense_Mutation_p.C48Y|BAZ2B_uc002uas.1_Missense_Mutation_p.C48Y|BAZ2B_uc002uau.1_Missense_Mutation_p.C48Y|BAZ2B_uc002uat.3_Missense_Mutation_p.C48Y|BAZ2B_uc010fop.1_Missense_Mutation_p.C48Y NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 GTATTCACCACATGGGTTGAT 0.358 38 110 --- --- --- --- PASS XIRP2 129446 broad.mit.edu 37 2 168101642 168101642 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:168101642C>A uc002udx.2 + 8 3758 c.3740C>A c.(3739-3741)CCA>CAA p.P1247Q XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.P1072Q|XIRP2_uc010fpq.2_Missense_Mutation_p.P1025Q|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_5'Flank NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 1072 Xin 20. actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 GAAAACCAACCAATTGATAAG 0.348 17 35 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 169993938 169993938 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:169993938G>A uc002ues.2 - 76 13797 c.13584C>T c.(13582-13584)GCC>GCT p.A4528A NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 4528 Cytoplasmic (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CACTGTCTCTGGCTGAGTACA 0.378 16 51 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170127511 170127511 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:170127511A>G uc002ues.2 - 16 2436 c.2223T>C c.(2221-2223)TCT>TCC p.S741S LRP2_uc010zdf.1_Intron NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 741 Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CGACAAAGAAAGAAGGATTCC 0.418 11 34 --- --- --- --- PASS HOXD12 3238 broad.mit.edu 37 2 176964863 176964863 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:176964863C>T uc010zev.1 + 1 334 c.334C>T c.(334-336)CGC>TGC p.R112C HOXD12_uc010zew.1_Missense_Mutation_p.R112C NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 112 nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) GCCAGAGGAGCGCGGTCGTAC 0.672 6 14 --- --- --- --- PASS HOXD10 3236 broad.mit.edu 37 2 176981724 176981724 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:176981724C>A uc002ukj.2 + 1 233 c.163C>A c.(163-165)CCG>ACG p.P55T NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 55 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TGGACTGCTCCCGTCTCTGGC 0.488 11 46 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179226430 179226430 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:179226430C>T uc002ulx.2 + 13 1553 c.1175C>T c.(1174-1176)GCA>GTA p.A392V OSBPL6_uc002ulw.2_Missense_Mutation_p.A361V|OSBPL6_uc002uly.2_Missense_Mutation_p.A417V|OSBPL6_uc010zfe.1_Missense_Mutation_p.A361V|OSBPL6_uc002ulz.2_Missense_Mutation_p.A392V|OSBPL6_uc002uma.2_Missense_Mutation_p.A396V NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 392 lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) TTGAAGTCTGCATTTAATAGC 0.438 21 85 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179588005 179588005 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:179588005T>A uc010zfg.1 - 72 18221 c.17997A>T c.(17995-17997)CCA>CCT p.P5999P TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.P2660P NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 6926 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) TGGACTTCCCTGGTTCTACAG 0.388 6 26 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179613192 179613192 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:179613192A>G uc002unb.2 - 46 14159 c.13935T>C c.(13933-13935)TAT>TAC p.Y4645Y 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 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) TTTTTTCTTTATAATGTATTT 0.353 12 141 --- --- --- --- PASS SSFA2 6744 broad.mit.edu 37 2 182774642 182774642 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:182774642G>T uc002uoi.2 + 9 1752 c.1430G>T c.(1429-1431)GGA>GTA p.G477V SSFA2_uc002uoh.2_Missense_Mutation_p.G477V|SSFA2_uc002uoj.2_Missense_Mutation_p.G477V|SSFA2_uc002uok.2_RNA|SSFA2_uc010zfo.1_Missense_Mutation_p.G324V|SSFA2_uc002uol.2_Missense_Mutation_p.G324V NM_001130445 NP_001123917 P28290 SSFA2_HUMAN sperm specific antigen 2 isoform 1 477 cytoplasm|plasma membrane actin binding breast(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0856) AGTACGGAGGGAGAAGCTCCT 0.363 12 31 --- --- --- --- PASS DUSP19 142679 broad.mit.edu 37 2 183960174 183960174 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:183960174G>C uc002upd.2 + 4 817 c.442G>C c.(442-444)GTT>CTT p.V148L DUSP19_uc010frp.2_Missense_Mutation_p.V97L|DUSP19_uc010zfr.1_RNA|DUSP19_uc002upe.2_Missense_Mutation_p.L108F NM_080876 NP_543152 Q8WTR2 DUS19_HUMAN dual specificity phosphatase 19 isoform 1 148 Tyrosine-protein phosphatase. JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity cytoplasm JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity ovary(4)|pancreas(1) 5 AGTGGTTCTTGTTCATTGTAA 0.333 28 66 --- --- --- --- PASS CASP8 841 broad.mit.edu 37 2 202136259 202136259 + Nonsense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:202136259C>G uc002uxr.1 + 4 535 c.326C>G c.(325-327)TCA>TGA p.S109* CASP8_uc010ftc.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxo.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxp.1_Nonsense_Mutation_p.S141*|CASP8_uc002uxq.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxs.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxt.1_Nonsense_Mutation_p.S168*|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Nonsense_Mutation_p.S6*|CASP8_uc002uxv.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxw.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxy.1_Nonsense_Mutation_p.S109*|CASP8_uc002uxx.1_Nonsense_Mutation_p.S109*|CASP8_uc010ftf.2_Nonsense_Mutation_p.S109*|CASP8_uc010fte.1_Nonsense_Mutation_p.S6* NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 109 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 TATCAGATTTCAGAAGAAGTG 0.398 HNSCC(4;0.00038) 14 37 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207170435 207170435 + Nonsense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:207170435C>T uc002vbp.2 + 5 1433 c.1183C>T c.(1183-1185)CAA>TAA p.Q395* NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 395 nucleic acid binding|zinc ion binding ovary(3) 3 GCAAATTGACCAAGAAGATAA 0.398 7 32 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214794706 214794706 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:214794706A>G uc002veq.2 + 12 1329 c.1237A>G c.(1237-1239)AGT>GGT p.S413G SPAG16_uc010fuz.1_Missense_Mutation_p.S264G|SPAG16_uc002ver.2_Missense_Mutation_p.S359G|SPAG16_uc010zjk.1_Missense_Mutation_p.S319G NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 413 WD 2. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GGCTACTTCAAGTGGTGACAC 0.378 33 86 --- --- --- --- PASS SMARCAL1 50485 broad.mit.edu 37 2 217279579 217279579 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:217279579A>C uc002vgc.3 + 3 482 c.152A>C c.(151-153)CAA>CCA p.Q51P SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.Q51P|SMARCAL1_uc010fvg.2_Missense_Mutation_p.Q51P NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 51 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) CAGGCCAAGCAAGGCCCATCC 0.512 Schimke_Immuno-Osseous_Dysplasia 24 77 --- --- --- --- PASS SMARCAL1 50485 broad.mit.edu 37 2 217279581 217279581 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:217279581G>C uc002vgc.3 + 3 484 c.154G>C c.(154-156)GGC>CGC p.G52R SMARCAL1_uc010fvf.2_RNA|SMARCAL1_uc002vgd.3_Missense_Mutation_p.G52R|SMARCAL1_uc010fvg.2_Missense_Mutation_p.G52R NM_014140 NP_054859 Q9NZC9 SMAL1_HUMAN SWI/SNF-related matrix-associated 52 chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter nucleus ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity ovary(3)|breast(3)|skin(1) 7 Renal(323;0.0458) Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111) GGCCAAGCAAGGCCCATCCCA 0.512 Schimke_Immuno-Osseous_Dysplasia 22 82 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219890788 219890788 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:219890788C>T uc002vjl.1 - 14 2389 c.2305G>A c.(2305-2307)GGC>AGC p.G769S NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 769 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGCTCAAAGCCAGCGAAATAG 0.592 4 51 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225669970 225669970 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:225669970C>A uc010fwz.1 - 36 4243 c.4004G>T c.(4003-4005)AGG>ATG p.R1335M DOCK10_uc002vob.2_Missense_Mutation_p.R1329M|DOCK10_uc002voa.2_Translation_Start_Site|DOCK10_uc002voc.2_Missense_Mutation_p.R189M NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1335 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) CAGGAGACTCCTGGTTTCTGC 0.363 31 107 --- --- --- --- PASS GPR55 9290 broad.mit.edu 37 2 231775562 231775562 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:231775562A>T uc002vrg.2 - 2 309 c.116T>A c.(115-117)CTG>CAG p.L39Q GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Missense_Mutation_p.L39Q NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 39 Helical; Name=1; (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) GATGGCCAGCAGGTTGAGGAG 0.552 13 59 --- --- --- --- PASS DIS3L2 129563 broad.mit.edu 37 2 233199087 233199087 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:233199087G>A uc010fxz.2 + 18 2443 c.2167G>A c.(2167-2169)GAG>AAG p.E723K DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vso.2_RNA|DIS3L2_uc002vsp.1_5'Flank NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 723 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AGGCTATAGGGAGCGACTAGA 0.652 4 17 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233406092 233406092 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr2:233406092G>A uc002vsx.1 + 5 380 c.359G>A c.(358-360)GGT>GAT p.G120D CHRNG_uc010fyd.2_Missense_Mutation_p.G120D|CHRNG_uc010fye.1_Intron NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 120 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) AGCGTGGACGGTGTCTTCGAG 0.637 25 76 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 432795 432795 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:432795G>T uc003bou.2 + 21 2967 c.2696G>T c.(2695-2697)GGA>GTA p.G899V CHL1_uc003bot.2_Missense_Mutation_p.G915V|CHL1_uc003bow.1_Missense_Mutation_p.G899V|CHL1_uc011asi.1_Missense_Mutation_p.G915V NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 899 Fibronectin type-III 3.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) AACTCTAAAGGAGCTGGTCCT 0.388 27 19 --- --- --- --- PASS FBLN2 2199 broad.mit.edu 37 3 13659585 13659585 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:13659585C>T uc011avb.1 + 6 1864 c.1739C>T c.(1738-1740)GCA>GTA p.A580V FBLN2_uc011auz.1_Missense_Mutation_p.A606V|FBLN2_uc011ava.1_Missense_Mutation_p.A580V|FBLN2_uc011avc.1_Missense_Mutation_p.A580V NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 580 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GTTTCAGAGGCAGAGATGGCG 0.607 44 59 --- --- --- --- PASS TMEM43 79188 broad.mit.edu 37 3 14174420 14174420 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:14174420G>T uc003byk.2 + 6 751 c.497G>T c.(496-498)GGC>GTC p.G166V TMEM43_uc003byl.1_Missense_Mutation_p.G46V NM_024334 NP_077310 Q9BTV4 TMM43_HUMAN transmembrane protein 43 166 Lumenal (Potential). endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane ovary(1) 1 CGAGAGATTGGCCACAAAAAC 0.448 23 13 --- --- --- --- PASS SATB1 6304 broad.mit.edu 37 3 18427920 18427920 + Missense_Mutation SNP T G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:18427920T>G uc003cbh.2 - 8 3125 c.1390A>C c.(1390-1392)ATC>CTC p.I464L SATB1_uc003cbi.2_Missense_Mutation_p.I464L|SATB1_uc003cbj.2_Missense_Mutation_p.I464L NM_002971 NP_002962 Q01826 SATB1_HUMAN special AT-rich sequence binding protein 1 464 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding skin(2)|ovary(1)|lung(1) 4 GGTGTGCTGATGAGGGGGGCA 0.507 17 105 --- --- --- --- PASS KCNH8 131096 broad.mit.edu 37 3 19554491 19554491 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:19554491C>A uc003cbk.1 + 13 2304 c.2109C>A c.(2107-2109)AAC>AAA p.N703K KCNH8_uc010hex.1_Missense_Mutation_p.N164K NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 703 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 GCAACATCAACAAGCGACTCC 0.343 11 16 --- --- --- --- PASS TGFBR2 7048 broad.mit.edu 37 3 30713504 30713504 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:30713504A>G uc003ceo.2 + 4 1211 c.829A>G c.(829-831)AAG>GAG p.K277E TGFBR2_uc003cen.2_Missense_Mutation_p.K302E NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 277 Protein kinase.|Cytoplasmic (Potential). ATP (By similarity). K->R: Abolishes kinase activity, TGF-beta signaling and interaction with DAXX. activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 AGTGGCAGTCAAGATCTTTCC 0.493 25 31 --- --- --- --- PASS CCR4 1233 broad.mit.edu 37 3 32995297 32995297 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:32995297T>A uc003cfg.1 + 2 551 c.383T>A c.(382-384)GTC>GAC p.V128D NM_005508 NP_005499 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 128 Helical; Name=3; (Potential). chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane lung(1) 1 ATATTCTTTGTCATGCTCATG 0.483 77 90 --- --- --- --- PASS EXOG 9941 broad.mit.edu 37 3 38537942 38537942 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:38537942T>A uc003cih.2 + 1 180 c.84T>A c.(82-84)GCT>GCA p.A28A EXOG_uc010hhg.2_RNA|EXOG_uc011ayq.1_Silent_p.A28A|EXOG_uc003cij.2_5'UTR|EXOG_uc010hhd.2_5'UTR|EXOG_uc010hhe.2_5'UTR|EXOG_uc003cik.2_5'UTR|EXOG_uc010hhf.2_5'UTR|EXOG_uc003cii.2_5'UTR NM_005107 NP_005098 Q9Y2C4 EXOG_HUMAN endo/exonuclease (5'-3'), endonuclease G-like 28 mitochondrial inner membrane endonuclease activity|metal ion binding|nucleic acid binding 0 TAGTGGGCGCTGCGGGAGCTG 0.657 OREG0015479 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 22 --- --- --- --- PASS MYRIP 25924 broad.mit.edu 37 3 40231921 40231921 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:40231921C>T uc003cka.2 + 10 1767 c.1632C>T c.(1630-1632)CCC>CCT p.P544P MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.P544P|MYRIP_uc010hhw.2_Silent_p.P455P|MYRIP_uc011ayz.1_Silent_p.P357P|uc003ckb.2_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 544 Myosin-binding.|Actin-binding. intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) CATCTTCCCCCAGCGCCCAGC 0.602 3 35 --- --- --- --- PASS CELSR3 1951 broad.mit.edu 37 3 48677267 48677267 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:48677267C>G uc003cul.2 - 34 10032 c.9751G>C c.(9751-9753)GCC>CCC p.A3251P CELSR3_uc003cuf.1_Missense_Mutation_p.A3349P|CELSR3_uc010hkf.2_Missense_Mutation_p.A541P|CELSR3_uc010hkg.2_Missense_Mutation_p.A1234P NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 3251 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) TTGAAAGAGGCAAGGATGGAG 0.602 48 57 --- --- --- --- PASS RNF123 63891 broad.mit.edu 37 3 49736430 49736430 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:49736430G>A uc003cxh.2 + 10 742 c.656G>A c.(655-657)GGC>GAC p.G219D RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.2_5'Flank NM_022064 NP_071347 Q5XPI4 RN123_HUMAN ring finger protein 123 219 B30.2/SPRY. cytoplasm ligase activity|protein binding|zinc ion binding kidney(3)|ovary(1)|lung(1)|breast(1)|skin(1) 7 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) GTATCACTGGGCACTGCCTTT 0.582 43 54 --- --- --- --- PASS STAB1 23166 broad.mit.edu 37 3 52557073 52557073 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:52557073G>C uc003dej.2 + 63 7017 c.6943G>C c.(6943-6945)GGT>CGT p.G2315R STAB1_uc003dek.1_Missense_Mutation_p.G330R|STAB1_uc003del.2_Missense_Mutation_p.G202R NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 2315 Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGGCTTCGTGGGTGACGGGAT 0.602 21 43 --- --- --- --- PASS DCP1A 55802 broad.mit.edu 37 3 53324879 53324879 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:53324879T>A uc003dgs.3 - 8 1484 c.1391A>T c.(1390-1392)CAG>CTG p.Q464L DCP1A_uc003dgt.3_RNA NM_018403 NP_060873 Q9NPI6 DCP1A_HUMAN DCP1 decapping enzyme homolog A 464 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus hydrolase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647) CTGGTTCTGCTGCATAGACTG 0.363 3 5 --- --- --- --- PASS LRTM1 57408 broad.mit.edu 37 3 54952882 54952882 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:54952882G>T uc003dhl.2 - 3 776 c.642C>A c.(640-642)GAC>GAA p.D214E CACNA2D3_uc003dhf.2_Intron|CACNA2D3_uc003dhg.1_Intron|CACNA2D3_uc003dhh.1_Intron NM_020678 NP_065729 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 214 Extracellular (Potential).|LRRCT. integral to membrane 0 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CCTTCCAGGTGTCTGGTGATT 0.502 13 16 --- --- --- --- PASS CNTN3 5067 broad.mit.edu 37 3 74315693 74315693 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:74315693C>A uc003dpm.1 - 21 3005 c.2925G>T c.(2923-2925)AAG>AAT p.K975N NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 975 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) CTGTTGTGGCCTTGACTTCAA 0.398 20 165 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97869025 97869025 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:97869025C>A uc003dsg.1 + 1 796 c.796C>A c.(796-798)CAG>AAG p.Q266K NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 266 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGCATCCCCACAGGCTGATGA 0.433 14 16 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108163597 108163597 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:108163597C>T uc003dxa.1 - 23 2662 c.2605G>A c.(2605-2607)GCA>ACA p.A869T NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 869 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 TGTAATTGTGCACACTCTTCC 0.433 10 79 --- --- --- --- PASS CCDC80 151887 broad.mit.edu 37 3 112357103 112357103 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:112357103C>T uc003dzf.2 - 2 1868 c.1650G>A c.(1648-1650)AAG>AAA p.K550K CCDC80_uc011bhv.1_Silent_p.K550K|CCDC80_uc003dzg.2_Silent_p.K550K|CCDC80_uc003dzh.1_Silent_p.K550K NM_199512 NP_955806 Q76M96 CCD80_HUMAN steroid-sensitive protein 1 precursor 550 Lys-rich. ovary(2) 2 tcttttttttcttctccttct 0.214 6 27 --- --- --- --- PASS WDR52 55779 broad.mit.edu 37 3 113098376 113098376 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:113098376C>T uc003eae.1 - 17 2121 c.2075G>A c.(2074-2076)AGG>AAG p.R692K NM_018338 NP_060808 Q96MT7 WDR52_HUMAN WD repeat domain 52 isoform 2 692 Glu-rich. central_nervous_system(1) 1 TTGTCTCTCCCTCTTTTCAAT 0.328 8 74 --- --- --- --- PASS GPR156 165829 broad.mit.edu 37 3 119886044 119886044 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:119886044C>A uc011bjf.1 - 9 2280 c.2280G>T c.(2278-2280)CGG>CGT p.R760R GPR156_uc011bjg.1_Silent_p.R756R NM_153002 NP_694547 Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 760 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) CACAGTAGGGCCGGTGGCAGC 0.567 37 101 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 120976075 120976075 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:120976075C>T uc003eec.3 + 17 1867 c.1727C>T c.(1726-1728)CCG>CTG p.P576L STXBP5L_uc011bji.1_Missense_Mutation_p.P576L NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 576 WD 9. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) ACAAGTCCTCCGTTTCCAGAT 0.388 17 82 --- --- --- --- PASS PARP9 83666 broad.mit.edu 37 3 122259607 122259607 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:122259607A>T uc010hri.2 - 8 1727 c.1582T>A c.(1582-1584)TAT>AAT p.Y528N PARP9_uc003eff.3_Missense_Mutation_p.Y493N|PARP9_uc011bjs.1_Missense_Mutation_p.Y493N|PARP9_uc003efg.2_Missense_Mutation_p.Y73N|PARP9_uc003efi.2_Missense_Mutation_p.Y493N|PARP9_uc003efh.2_Missense_Mutation_p.Y528N|PARP9_uc003efj.2_Missense_Mutation_p.Y493N NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 528 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) TGGGCCTCATACATCTCTTCC 0.453 40 91 --- --- --- --- PASS ALDH1L1 10840 broad.mit.edu 37 3 125822661 125822661 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:125822661C>A uc003eim.1 - 23 2872 c.2682G>T c.(2680-2682)CGG>CGT p.R894R ALDH1L1_uc010hse.1_RNA|ALDH1L1_uc011bki.1_Silent_p.R793R|SLC41A3_uc011bkh.1_5'Flank NM_012190 NP_036322 O75891 AL1L1_HUMAN aldehyde dehydrogenase 1 family, member L1 894 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) CTGTCTTGACCCGCAGGTACT 0.577 6 17 --- --- --- --- PASS RUVBL1 8607 broad.mit.edu 37 3 127823761 127823761 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:127823761C>A uc003ekh.2 - 4 472 c.368G>T c.(367-369)CGA>CTA p.R123L RUVBL1_uc003ekf.2_Missense_Mutation_p.R63L|RUVBL1_uc010hss.2_Missense_Mutation_p.R123L NM_003707 NP_003698 Q9Y265 RUVB1_HUMAN RuvB-like 1 123 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) CTCCTTTATTCGCAGCCCTGG 0.473 18 42 --- --- --- --- PASS PLXND1 23129 broad.mit.edu 37 3 129278510 129278510 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:129278510C>A uc003emx.2 - 32 5350 c.5250G>T c.(5248-5250)AAG>AAT p.K1750N PLXND1_uc003emw.2_5'Flank|PLXND1_uc011blb.1_Missense_Mutation_p.K418N NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1750 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 AGATTCCCCTCTTCTCAGCCT 0.572 10 89 --- --- --- --- PASS TMCC1 23023 broad.mit.edu 37 3 129389433 129389433 + Nonsense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:129389433A>T uc003emz.3 - 5 1752 c.1251T>A c.(1249-1251)TAT>TAA p.Y417* TMCC1_uc003emy.3_Nonsense_Mutation_p.Y93*|TMCC1_uc011blc.1_Nonsense_Mutation_p.Y238*|TMCC1_uc010htg.2_Nonsense_Mutation_p.Y303* NM_001017395 NP_001017395 O94876 TMCC1_HUMAN transmembrane and coiled-coil domain family 1 417 integral to membrane skin(1) 1 CTTCACTACCATATTTTGGGC 0.498 9 35 --- --- --- --- PASS TMEM108 66000 broad.mit.edu 37 3 133098958 133098958 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:133098958G>C uc003eph.2 + 4 677 c.403G>C c.(403-405)GGG>CGG p.G135R TMEM108_uc003epi.2_Missense_Mutation_p.G135R|TMEM108_uc003epj.1_Missense_Mutation_p.G135R|TMEM108_uc003epk.2_Intron|TMEM108_uc003epm.2_Missense_Mutation_p.G86R NM_023943 NP_076432 Q6UXF1 TM108_HUMAN transmembrane protein 108 precursor 135 Pro-rich.|Extracellular (Potential). integral to membrane ovary(2)|skin(2) 4 CCGCCCTCGAGGGCAGGCTGC 0.706 4 24 --- --- --- --- PASS TF 7018 broad.mit.edu 37 3 133478161 133478161 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:133478161C>A uc003epu.1 + 14 2919 c.1191C>A c.(1189-1191)ATC>ATA p.I397I TF_uc011blt.1_Silent_p.I270I|TF_uc003epw.1_Intron|TF_uc003epv.1_Silent_p.I397I NM_001063 NP_001054 P02787 TRFE_HUMAN transferrin precursor 397 Transferrin-like 2. cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule ferric iron binding ovary(1)|skin(1) 2 Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893) AAGACTGCATCGCCAAGATCA 0.547 20 39 --- --- --- --- PASS RBP1 5947 broad.mit.edu 37 3 139258355 139258355 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:139258355C>A uc003eti.2 - 1 317 c.206G>T c.(205-207)GGG>GTG p.G69V RBP1_uc011bmx.1_Missense_Mutation_p.G69V|RBP1_uc010huj.2_RNA|RBP1_uc011bmy.1_Missense_Mutation_p.G69V NM_002899 NP_002890 P09455 RET1_HUMAN retinol binding protein 1, cellular isoform a 7 cytoplasm retinal binding|retinol binding|transporter activity 0 Vitamin A(DB00162) CTTCCAGTACCCAGTGAAGTC 0.672 6 11 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140397179 140397179 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:140397179C>A uc003eto.1 + 1 299 c.108C>A c.(106-108)AAC>AAA p.N36K NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 36 Cys-rich. intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 CAGAGCGGAACTGCACCTGCT 0.527 43 109 --- --- --- --- PASS PCOLCE2 26577 broad.mit.edu 37 3 142557696 142557696 + Missense_Mutation SNP C A A rs138409602 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:142557696C>A uc003evd.2 - 5 822 c.626G>T c.(625-627)CGA>CTA p.R209L NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 209 CUB 2. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 ATAATCATATCGGCAGTAGTT 0.378 12 45 --- --- --- --- PASS PAQR9 344838 broad.mit.edu 37 3 142681553 142681553 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:142681553T>A uc003evg.2 - 1 626 c.626A>T c.(625-627)TAC>TTC p.Y209F PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 209 Helical; (Potential). integral to membrane receptor activity 0 CAGGGCGCGGTAGGCGGCGAT 0.652 4 15 --- --- --- --- PASS MED12L 116931 broad.mit.edu 37 3 150834175 150834175 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:150834175C>A uc003eyp.2 + 2 188 c.150C>A c.(148-150)GCC>GCA p.A50A MED12L_uc011bnz.1_Silent_p.A50A|MED12L_uc003eym.1_Silent_p.A50A|MED12L_uc003eyn.2_Silent_p.A50A|MED12L_uc003eyo.2_Silent_p.A50A NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 50 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) ATCAGCCAGCCTTCACTGGAG 0.378 7 16 --- --- --- --- PASS IGSF10 285313 broad.mit.edu 37 3 151164737 151164737 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:151164737C>A uc011bod.1 - 4 3032 c.3032G>T c.(3031-3033)GGG>GTG p.G1011V NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 1011 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) CCTCTGCCTCCCAAAGCGTCT 0.498 23 55 --- --- --- --- PASS SCHIP1 29970 broad.mit.edu 37 3 159605586 159605586 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:159605586G>C uc003fcs.1 + 5 1152 c.1086G>C c.(1084-1086)AAG>AAC p.K362N SCHIP1_uc003fcq.1_Missense_Mutation_p.K438N|SCHIP1_uc003fcr.1_Missense_Mutation_p.K351N|SCHIP1_uc003fct.1_Missense_Mutation_p.K349N|SCHIP1_uc010hvz.1_Missense_Mutation_p.K322N|SCHIP1_uc003fcu.1_Missense_Mutation_p.K119N|SCHIP1_uc003fcv.1_Missense_Mutation_p.K135N NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 362 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) CAAGGCAAAAGAAATTGCAAG 0.453 12 89 --- --- --- --- PASS MECOM 2122 broad.mit.edu 37 3 168825717 168825717 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:168825717A>G uc003ffi.3 - 9 2306 c.2037T>C c.(2035-2037)ACT>ACC p.T679T MECOM_uc010hwk.1_Intron|MECOM_uc003ffj.3_Silent_p.T744T|MECOM_uc011bpi.1_Intron|MECOM_uc003ffn.3_Silent_p.T679T|MECOM_uc003ffk.2_Intron|MECOM_uc003ffl.2_Intron|MECOM_uc011bpj.1_Silent_p.T867T|MECOM_uc011bpk.1_Silent_p.T669T|MECOM_uc010hwn.2_Intron NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 679 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 AACTTACCCAAGTTCTCTGAT 0.308 9 36 --- --- --- --- PASS NLGN1 22871 broad.mit.edu 37 3 173525560 173525560 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:173525560G>A uc003fio.1 + 4 1007 c.584G>A c.(583-585)AGT>AAT p.S195N NLGN1_uc010hww.1_Missense_Mutation_p.S235N|NLGN1_uc003fip.1_Missense_Mutation_p.S195N NM_014932 NP_055747 Q8N2Q7 NLGN1_HUMAN neuroligin 1 212 Extracellular (Potential). calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)|ovary(1)|pancreas(1) 7 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) TATGATGGAAGTGTCTTGGCA 0.428 13 48 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178919142 178919142 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:178919142G>A uc003fjk.2 + 4 784 c.627G>A c.(625-627)CTG>CTA p.L209L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 209 PI3K-RBD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AGTATACTCTGAAAATCAACC 0.368 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 40 74 --- --- --- --- PASS MFN1 55669 broad.mit.edu 37 3 179076790 179076790 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:179076790G>T uc003fjs.2 + 4 537 c.411G>T c.(409-411)AAG>AAT p.K137N MFN1_uc010hxb.2_RNA|MFN1_uc003fjt.2_Missense_Mutation_p.K165N NM_033540 NP_284941 Q8IWA4 MFN1_HUMAN mitofusin 1 137 Cytoplasmic (Potential). mitochondrial fusion integral to membrane|mitochondrial outer membrane GTP binding|GTPase activity ovary(2)|large_intestine(1) 3 all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AGAGTGTGAAGGTATGATCTT 0.343 10 32 --- --- --- --- PASS CLCN2 1181 broad.mit.edu 37 3 184076563 184076563 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:184076563C>A uc003foi.2 - 3 383 c.259G>T c.(259-261)GTT>TTT p.V87F CLCN2_uc003foh.2_5'Flank|CLCN2_uc010hya.1_Missense_Mutation_p.V87F|CLCN2_uc011brl.1_Missense_Mutation_p.V87F|CLCN2_uc011brm.1_Intron|CLCN2_uc011brn.1_Missense_Mutation_p.V87F|POLR2H_uc003foj.1_5'Flank NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 87 Cytoplasmic (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TCTTCACCAACCCTGGATACT 0.557 3 9 --- --- --- --- PASS EHHADH 1962 broad.mit.edu 37 3 184910839 184910839 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:184910839T>A uc003fpf.2 - 7 1374 c.1347A>T c.(1345-1347)CAA>CAT p.Q449H EHHADH_uc011brs.1_Missense_Mutation_p.Q353H NM_001966 NP_001957 Q08426 ECHP_HUMAN enoyl-Coenzyme A, hydratase/3-hydroxyacyl 449 3-hydroxyacyl-CoA dehydrogenase. peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity ovary(3) 3 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) GGGAAGAGTATTGGCTGGGAA 0.428 19 45 --- --- --- --- PASS FGF12 2257 broad.mit.edu 37 3 192078223 192078223 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr3:192078223C>A uc003fsx.2 - 2 1130 c.304G>T c.(304-306)GAC>TAC p.D102Y FGF12_uc003fsy.2_Missense_Mutation_p.D40Y NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 102 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTACTGTAGTCGCTGTTTTCG 0.433 15 20 --- --- --- --- PASS KIAA0232 9778 broad.mit.edu 37 4 6826361 6826361 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:6826361G>A uc003gjr.3 + 3 644 c.181G>A c.(181-183)GTC>ATC p.V61I KIAA0232_uc003gjq.3_Missense_Mutation_p.V61I NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 61 ATP binding ovary(2) 2 CACTCGGTATGTCCTCAGTCT 0.433 8 52 --- --- --- --- PASS PSAPL1 768239 broad.mit.edu 37 4 7436386 7436386 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:7436386G>T uc011bwj.1 - 1 315 c.221C>A c.(220-222)GCT>GAT p.A74D SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 74 Saposin B-type 1. sphingolipid metabolic process extracellular region|lysosome 0 CCCATTGCCAGCGGCGGCTGC 0.632 3 9 --- --- --- --- PASS ACOX3 8310 broad.mit.edu 37 4 8368789 8368789 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:8368789C>A uc010idk.2 - 18 2147 c.2002G>T c.(2002-2004)GGC>TGC p.G668C ACOX3_uc003glc.3_Missense_Mutation_p.G668C|ACOX3_uc003gld.3_3'UTR NM_003501 NP_003492 O15254 ACOX3_HUMAN acyl-Coenzyme A oxidase 3 isoform a 668 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity central_nervous_system(1) 1 AGGACAGCGCCCCAGAGGTTT 0.473 8 41 --- --- --- --- PASS SLIT2 9353 broad.mit.edu 37 4 20530638 20530638 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:20530638G>T uc003gpr.1 + 16 1733 c.1529G>T c.(1528-1530)TGT>TTT p.C510F SLIT2_uc003gps.1_Missense_Mutation_p.C502F NM_004787 NP_004778 O94813 SLIT2_HUMAN slit homolog 2 precursor 510 LRRNT 3. apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding central_nervous_system(4)|skin(4)|ovary(3) 11 CCTGAAAAGTGTCGCTGTGAA 0.423 8 73 --- --- --- --- PASS GPR125 166647 broad.mit.edu 37 4 22438203 22438203 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:22438203T>A uc003gqm.1 - 9 1412 c.1147A>T c.(1147-1149)AGT>TGT p.S383C GPR125_uc010ieo.1_Missense_Mutation_p.S257C|GPR125_uc003gqn.1_Missense_Mutation_p.S157C|GPR125_uc003gqo.2_Missense_Mutation_p.S383C NM_145290 NP_660333 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 precursor 383 Extracellular (Potential). neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity skin(1) 1 Breast(46;0.198) TATATCCCACTGCCATGGGTG 0.458 7 39 --- --- --- --- PASS GBA3 57733 broad.mit.edu 37 4 22748957 22748957 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:22748957A>G uc003gqp.3 + 3 416 c.325A>G c.(325-327)AAA>GAA p.K109E GBA3_uc010iep.2_Intron|GBA3_uc011bxo.1_Missense_Mutation_p.K110E NM_020973 NP_066024 Q9H227 GBA3_HUMAN cytosolic beta-glucosidase isoform a 109 glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity 0 TGATTTGTTAAAAAATGGGGT 0.363 16 116 --- --- --- --- PASS PGM2 55276 broad.mit.edu 37 4 37848563 37848563 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:37848563G>A uc011byb.1 + 9 1092 c.1019G>A c.(1018-1020)AGG>AAG p.R340K PGM2_uc011bya.1_Missense_Mutation_p.R201K|PGM2_uc011byc.1_Missense_Mutation_p.R180K NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 340 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 GGTGAATGGAGGGTGTTTTCA 0.428 23 58 --- --- --- --- PASS SHISA3 152573 broad.mit.edu 37 4 42403402 42403402 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:42403402C>A uc003gwp.2 + 2 869 c.651C>A c.(649-651)TTC>TTA p.F217L NM_001080505 NP_001073974 A0PJX4 SHSA3_HUMAN shisa homolog 3 precursor 217 Cytoplasmic (Potential). multicellular organismal development endoplasmic reticulum membrane|integral to membrane ovary(1)|skin(1) 2 CCCAGTATTTCGCTTACCCCC 0.612 15 48 --- --- --- --- PASS GRXCR1 389207 broad.mit.edu 37 4 42895622 42895622 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:42895622G>T uc003gwt.2 + 1 339 c.339G>T c.(337-339)GTG>GTT p.V113V NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 113 cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 AATACAAAGTGAGTGCTGGCC 0.433 8 72 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46053631 46053631 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:46053631G>T uc003gxb.2 - 8 1093 c.941C>A c.(940-942)ACA>AAA p.T314K NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 314 Helical; (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) ACTCAGGGTTGTCATAGTCAG 0.358 7 29 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46067412 46067412 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:46067412A>C uc003gxb.2 - 4 663 c.511T>G c.(511-513)TGG>GGG p.W171G NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 171 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) CCATCATTCCAAATTCGAAGC 0.318 7 47 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47527573 47527573 + Splice_Site SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:47527573G>T uc003gxk.1 + 5 855 c.691_splice c.e5-1 p.D231_splice ATP10D_uc003gxj.3_Splice_Site_p.D231_splice NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 AATATTTTTAGGACTCTGAAG 0.338 7 29 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47527574 47527574 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:47527574G>T uc003gxk.1 + 5 855 c.691G>T c.(691-693)GAC>TAC p.D231Y ATP10D_uc003gxj.3_Missense_Mutation_p.D231Y NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 231 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 ATATTTTTAGGACTCTGAAGT 0.338 7 28 --- --- --- --- PASS LRRC66 339977 broad.mit.edu 37 4 52883288 52883288 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:52883288G>A uc003gzi.2 - 1 505 c.492C>T c.(490-492)CCC>CCT p.P164P NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 164 LRR 3. integral to membrane ovary(1)|central_nervous_system(1)|skin(1) 3 ACTCACCCTTGGGAGTGTCAC 0.418 25 66 --- --- --- --- PASS SCFD2 152579 broad.mit.edu 37 4 54231648 54231648 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:54231648A>G uc003gzu.2 - 1 595 c.461T>C c.(460-462)TTC>TCC p.F154S SCFD2_uc010igm.2_Missense_Mutation_p.F154S NM_152540 NP_689753 Q8WU76 SCFD2_HUMAN sec1 family domain containing 2 154 protein transport|vesicle docking involved in exocytosis ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134) CGGGACATGGAACACCTCGGC 0.587 3 25 --- --- --- --- PASS LNX1 84708 broad.mit.edu 37 4 54343060 54343060 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:54343060C>G uc003hag.3 - 9 2008 c.1752G>C c.(1750-1752)TCG>TCC p.S584S PDGFRA_uc003haa.2_Intron|LNX1_uc003haf.3_Silent_p.S488S|LNX1_uc003hah.3_RNA NM_001126328 NP_001119800 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1 isoform a 584 PDZ 3. cytoplasm zinc ion binding ovary(2)|central_nervous_system(2) 4 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGAGTACTATCGAGGATGATG 0.522 22 81 --- --- --- --- PASS HOPX 84525 broad.mit.edu 37 4 57522051 57522051 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:57522051T>A uc011cad.1 - 2 351 c.116A>T c.(115-117)GAG>GTG p.E39V HOPX_uc003hcc.2_Missense_Mutation_p.E57V|HOPX_uc003hca.2_Missense_Mutation_p.E57V|HOPX_uc003hcb.2_Missense_Mutation_p.E39V|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E39V NM_001145459 NP_001138931 Q9BPY8 HOP_HUMAN HOP homeobox isoform b 39 Homeobox; atypical. negative regulation of cell differentiation|trophectodermal cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Glioma(25;0.08)|all_neural(26;0.101) AAGGCCTGCCTCGGCCGCGAT 0.682 5 12 --- --- --- --- PASS HOPX 84525 broad.mit.edu 37 4 57522052 57522052 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:57522052C>G uc011cad.1 - 2 350 c.115G>C c.(115-117)GAG>CAG p.E39Q HOPX_uc003hcc.2_Missense_Mutation_p.E57Q|HOPX_uc003hca.2_Missense_Mutation_p.E57Q|HOPX_uc003hcb.2_Missense_Mutation_p.E39Q|HOPX_uc003hcd.2_RNA|HOPX_uc003hce.2_RNA|HOPX_uc003hbz.2_Missense_Mutation_p.E39Q NM_001145459 NP_001138931 Q9BPY8 HOP_HUMAN HOP homeobox isoform b 39 Homeobox; atypical. negative regulation of cell differentiation|trophectodermal cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Glioma(25;0.08)|all_neural(26;0.101) AGGCCTGCCTCGGCCGCGATG 0.687 5 12 --- --- --- --- PASS EPHA5 2044 broad.mit.edu 37 4 66467468 66467468 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:66467468C>A uc003hcy.2 - 3 994 c.801G>T c.(799-801)GTG>GTT p.V267V EPHA5_uc003hcx.2_Silent_p.V198V|EPHA5_uc003hcz.2_Silent_p.V267V|EPHA5_uc011cah.1_Silent_p.V267V|EPHA5_uc011cai.1_Silent_p.V267V|EPHA5_uc003hda.2_Silent_p.V267V NM_004439 NP_004430 P54756 EPHA5_HUMAN ephrin receptor EphA5 isoform a precursor 267 Extracellular (Potential).|Cys-rich. 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 GTTCATCGGTCACAGAATGGT 0.527 TSP Lung(17;0.13) 7 18 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 4 69343137 69343137 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:69343137C>A uc003hdz.3 + 8 822 c.758C>A c.(757-759)CCT>CAT p.P253H NM_014058 NP_054777 transmembrane protease, serine 11E ACAATAAAACCTTCGAAAATG 0.388 40 150 --- --- --- --- PASS UGT2A1 10941 broad.mit.edu 37 4 70513211 70513211 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:70513211G>A uc003hem.3 - 1 215 c.152C>T c.(151-153)ACT>ATT p.T51I UGT2A1_uc011caq.1_Missense_Mutation_p.T51I|UGT2A1_uc010ihu.2_Missense_Mutation_p.T51I|UGT2A1_uc010iht.2_Missense_Mutation_p.T51I NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 51 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 AACTAGGACAGTCACATTATG 0.388 13 51 --- --- --- --- PASS SULT1B1 27284 broad.mit.edu 37 4 70599210 70599210 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:70599210C>G uc003hen.2 - 6 816 c.518G>C c.(517-519)TGG>TCG p.W173S NM_014465 NP_055280 O43704 ST1B1_HUMAN sulfotransferase family, cytosolic, 1B, member 173 3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process cytosol 0 ATGAGTAAACCAGGAACCATA 0.294 37 76 --- --- --- --- PASS C4orf35 85438 broad.mit.edu 37 4 71201257 71201257 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:71201257G>A uc003hff.2 + 1 587 c.501G>A c.(499-501)AAG>AAA p.K167K NM_033122 NP_149113 Q96KC9 CABS1_HUMAN testis development protein NYD-SP26 167 flagellum calcium ion binding 0 all_hematologic(202;0.196) GCACACTAAAGGACAGCAGTG 0.433 9 48 --- --- --- --- PASS PROL1 58503 broad.mit.edu 37 4 71275312 71275312 + Silent SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:71275312A>T uc003hfi.2 + 3 441 c.267A>T c.(265-267)CCA>CCT p.P89P NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 89 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) AACTCTTTCCATTGGAATCTA 0.423 30 189 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71510502 71510502 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:71510502C>A uc011caw.1 + 9 3640 c.3359C>A c.(3358-3360)CCA>CAA p.P1120Q NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 1120 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) GAACACAGTCCATTTGAATTC 0.418 11 50 --- --- --- --- PASS NPFFR2 10886 broad.mit.edu 37 4 73003832 73003832 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:73003832C>T uc003hgg.2 + 3 808 c.710C>T c.(709-711)ACG>ATG p.T237M NPFFR2_uc010iig.1_Missense_Mutation_p.T19M|NPFFR2_uc003hgi.2_Missense_Mutation_p.T138M|NPFFR2_uc003hgh.2_Missense_Mutation_p.T135M NM_004885 NP_004876 Q9Y5X5 NPFF2_HUMAN neuropeptide FF receptor 2 isoform 1 237 Helical; Name=3; (Potential). detection of abiotic stimulus actin cytoskeleton|integral to plasma membrane neuropeptide receptor activity ovary(2)|central_nervous_system(1) 3 Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138) TCAGTCTTTACGTTAGTTGCA 0.398 5 22 --- --- --- --- PASS NAA11 84779 broad.mit.edu 37 4 80246828 80246828 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:80246828C>A uc003hlt.3 - 1 344 c.204G>T c.(202-204)CCG>CCT p.P68P NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN alpha-N-acetyltransferase 1B 68 N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding ovary(1)|central_nervous_system(1) 2 TATGGCCATGCGGGACATCAT 0.582 8 77 --- --- --- --- PASS SEC31A 22872 broad.mit.edu 37 4 83748545 83748545 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:83748545C>A uc003hnf.2 - 24 3432 c.3268G>T c.(3268-3270)GCT>TCT p.A1090S SEC31A_uc003hnd.2_Missense_Mutation_p.A259S|SEC31A_uc003hne.2_Missense_Mutation_p.A839S|SEC31A_uc011ccl.1_Missense_Mutation_p.A1036S|SEC31A_uc003hnl.2_Missense_Mutation_p.A937S|SEC31A_uc003hng.2_Missense_Mutation_p.A1075S|SEC31A_uc003hnh.2_Missense_Mutation_p.A1090S|SEC31A_uc003hni.2_Missense_Mutation_p.A976S|SEC31A_uc003hnj.2_Missense_Mutation_p.A1051S|SEC31A_uc011ccm.1_Missense_Mutation_p.A1070S|SEC31A_uc011ccn.1_Missense_Mutation_p.A1075S|SEC31A_uc003hnk.2_Missense_Mutation_p.A1051S|SEC31A_uc003hnm.2_Missense_Mutation_p.A1090S NM_001077207 NP_001070675 O94979 SC31A_HUMAN SEC31 homolog A isoform 1 1090 Interaction with PDCD6.|Pro-rich. 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) CCAATAGGAGCCCCTGGGGCA 0.443 53 124 --- --- --- --- PASS GRID2 2895 broad.mit.edu 37 4 94377048 94377048 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:94377048G>T uc011cdt.1 + 11 2039 c.1781G>T c.(1780-1782)CGA>CTA p.R594L GRID2_uc011cdu.1_Missense_Mutation_p.R499L NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 594 Cytoplasmic (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) AATCCCCCACGATTACAAATG 0.443 22 53 --- --- --- --- PASS ADH7 131 broad.mit.edu 37 4 100348953 100348953 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:100348953C>A uc003huv.1 - 5 676 c.577G>T c.(577-579)GGC>TGC p.G193C NM_000673 NP_000664 P40394 ADH7_HUMAN class IV alcohol dehydrogenase, mu or sigma 193 ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process cytosol|soluble fraction alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity lung(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(123;1.75e-08) NADH(DB00157) ACAGCAGCGCCATATCCAGTG 0.408 13 24 --- --- --- --- PASS EMCN 51705 broad.mit.edu 37 4 101439008 101439008 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:101439008C>A uc003hvr.2 - 1 243 c.64G>T c.(64-66)GGT>TGT p.G22C EMCN_uc011cel.1_Missense_Mutation_p.G22C|EMCN_uc011cem.1_Missense_Mutation_p.G22C NM_016242 NP_057326 Q9ULC0 MUCEN_HUMAN endomucin isoform 1 22 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(123;2.49e-08) ACAAAAATACCTGTGCTGTTA 0.443 25 106 --- --- --- --- PASS BANK1 55024 broad.mit.edu 37 4 102751316 102751316 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:102751316A>C uc003hvy.3 + 2 696 c.422A>C c.(421-423)CAG>CCG p.Q141P BANK1_uc003hvx.3_Missense_Mutation_p.Q126P|BANK1_uc010ill.2_Intron|BANK1_uc003hvz.3_Missense_Mutation_p.Q111P NM_017935 NP_060405 Q8NDB2 BANK1_HUMAN B-cell scaffold protein with ankyrin repeats 1 141 Interaction with ITPR2. B cell activation ovary(2)|skin(1) 3 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.7e-07) TCAACTGAACAGGAACCTGAA 0.328 5 48 --- --- --- --- PASS NDST4 64579 broad.mit.edu 37 4 115997237 115997237 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:115997237C>A uc003ibu.2 - 2 1635 c.956G>T c.(955-957)AGG>ATG p.R319M NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 319 Lumenal (Potential).|Heparan sulfate N-deacetylase 4. 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) GACATTCATCCTTGTTCCCTC 0.363 19 47 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123175404 123175404 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:123175404C>A uc003ieh.2 + 36 6022 c.5977C>A c.(5977-5979)CCT>ACT p.P1993T KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Missense_Mutation_p.P612T NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1993 Poly-Pro. regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 GATGCCTCCTCCTCCAGATTC 0.373 15 68 --- --- --- --- PASS SCLT1 132320 broad.mit.edu 37 4 129809879 129809879 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:129809879C>T uc003igp.2 - 20 2465 c.1959G>A c.(1957-1959)AGG>AGA p.R653R SCLT1_uc003ign.2_Silent_p.R317R|SCLT1_uc003igo.2_Silent_p.R263R|SCLT1_uc003igq.2_Silent_p.R272R|SCLT1_uc010iob.1_Silent_p.R140R NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 653 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 GACTTAGACGCCTTTGAAGTC 0.388 4 74 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134076104 134076104 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:134076104C>A uc003iha.2 + 3 3549 c.2723C>A c.(2722-2724)TCT>TAT p.S908Y NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 908 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) ATAGTAAGCTCTAAGGACAGT 0.423 11 15 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141590948 141590948 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:141590948C>T uc010ioj.2 - 8 1549 c.1277G>A c.(1276-1278)CGA>CAA p.R426Q NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 426 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) GCTGCTGGGTCGAGAGTACAC 0.522 5 16 --- --- --- --- PASS SMAD1 4086 broad.mit.edu 37 4 146436166 146436166 + Splice_Site SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:146436166G>T uc003ikc.2 + 2 816 c.400_splice c.e2+1 p.V134_splice SMAD1_uc003ikd.2_Splice_Site_p.V134_splice|SMAD1_uc010iov.2_Splice_Site_p.V134_splice|SMAD1_uc011cic.1_Splice_Site_p.V134_splice NM_005900 NP_005891 Q15797 SMAD1_HUMAN Sma- and Mad-related protein 1 BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway cytosol|integral to membrane|nuclear inner membrane co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity ovary(1) 1 all_hematologic(180;0.151) GAAAGCCCTGGTAAGTGAGTT 0.388 16 104 --- --- --- --- PASS LRBA 987 broad.mit.edu 37 4 151773088 151773088 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:151773088C>T uc010ipj.2 - 23 4248 c.3774G>A c.(3772-3774)TTG>TTA p.L1258L LRBA_uc003ilt.3_5'Flank|LRBA_uc003ilu.3_Silent_p.L1258L NM_006726 NP_006717 P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and 1258 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding ovary(3)|breast(3)|skin(1) 7 all_hematologic(180;0.151) GACTGGCCTTCAACTCCAGCC 0.413 6 26 --- --- --- --- PASS DCHS2 54798 broad.mit.edu 37 4 155156647 155156647 + Nonsense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:155156647G>A uc003inw.2 - 25 7792 c.7792C>T c.(7792-7794)CAG>TAG p.Q2598* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2598 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) TCAGTTTTCTGGAAGGCTTTG 0.433 16 79 --- --- --- --- PASS DDX60 55601 broad.mit.edu 37 4 169227871 169227871 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:169227871C>A uc003irp.2 - 5 557 c.265G>T c.(265-267)GAT>TAT p.D89Y NM_017631 NP_060101 Q8IY21 DDX60_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 89 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TACTCGGCATCCTGTGGAGGA 0.358 13 35 --- --- --- --- PASS SORBS2 8470 broad.mit.edu 37 4 186510909 186510909 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:186510909C>T uc003iyl.2 - 20 4023 c.3165G>A c.(3163-3165)AGG>AGA p.R1055R SORBS2_uc003iyh.2_Silent_p.R779R|SORBS2_uc011ckw.1_Silent_p.R616R|SORBS2_uc003iyi.2_Silent_p.R686R|SORBS2_uc011ckx.1_Silent_p.R621R|SORBS2_uc003iyk.2_Silent_p.R599R|SORBS2_uc003iym.2_Silent_p.R1155R|SORBS2_uc003iyn.1_Silent_p.R646R|SORBS2_uc011cku.1_Silent_p.R447R|SORBS2_uc011ckv.1_Silent_p.R959R|SORBS2_uc003iyd.2_Silent_p.R754R|SORBS2_uc003iye.2_Silent_p.R628R|SORBS2_uc003iya.2_Silent_p.R575R|SORBS2_uc003iyb.2_Silent_p.R528R|SORBS2_uc003iyc.2_Silent_p.R508R|SORBS2_uc003iyg.2_Silent_p.R1169R|SORBS2_uc003iyf.2_Silent_p.R591R NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 1055 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) CATCTTCATTCCTGGGAGTAT 0.413 27 67 --- --- --- --- PASS TRIML2 205860 broad.mit.edu 37 4 189020189 189020189 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:189020189C>A uc003izl.2 - 4 507 c.471G>T c.(469-471)AAG>AAT p.K157N TRIML2_uc003izj.1_Translation_Start_Site|TRIML2_uc003izk.1_Translation_Start_Site|TRIML2_uc011cle.1_Missense_Mutation_p.K207N|TRIML2_uc011clf.1_Missense_Mutation_p.K207N NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 157 ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) AGCATCTTACCTTGAGCAATG 0.453 10 31 --- --- --- --- PASS FRG1 2483 broad.mit.edu 37 4 190883076 190883076 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr4:190883076G>T uc003izs.2 + 8 920 c.729G>T c.(727-729)ACG>ACT p.T243T NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 243 Bipartite nuclear localization signal (Potential). rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) TGCATGAGACGCTTCTGGACA 0.328 24 74 --- --- --- --- PASS CLPTM1L 81037 broad.mit.edu 37 5 1344486 1344486 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:1344486A>G uc003jch.2 - 2 289 c.243T>C c.(241-243)GAT>GAC p.D81D CLPTM1L_uc003jcg.2_5'Flank NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN CLPTM1-like 81 Extracellular (Potential). apoptosis integral to membrane breast(1)|central_nervous_system(1) 2 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) TGGACTCCACATCAAAGTCTT 0.473 5 59 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1403118 1403118 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:1403118C>A uc003jck.2 - 13 1807 c.1686G>T c.(1684-1686)TGG>TGT p.W562C NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 562 Helical; Name=12; (Potential).|Interaction with TGFB1I1. cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) TGGCGATGACCCAGCCCAGCG 0.612 11 43 --- --- --- --- PASS SLC6A3 6531 broad.mit.edu 37 5 1422081 1422081 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:1422081C>G uc003jck.2 - 5 823 c.702G>C c.(700-702)GGG>GGC p.G234G NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 234 Extracellular (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) ACCGCGGAGGCCCCAGGTCGT 0.657 71 68 --- --- --- --- PASS MARCH6 10299 broad.mit.edu 37 5 10411539 10411539 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:10411539G>A uc003jet.1 + 19 1969 c.1786G>A c.(1786-1788)GCT>ACT p.A596T MARCH6_uc011cmu.1_Missense_Mutation_p.A548T|MARCH6_uc003jeu.1_Missense_Mutation_p.A294T|MARCH6_uc011cmv.1_Missense_Mutation_p.A491T NM_005885 NP_005876 O60337 MARH6_HUMAN membrane-associated ring finger (C3HC4) 6 596 Cytoplasmic (Potential). protein K48-linked ubiquitination integral to endoplasmic reticulum membrane ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|breast(1) 2 AAATAACAACGCTATTCCTGT 0.458 27 41 --- --- --- --- PASS MYO10 4651 broad.mit.edu 37 5 16769217 16769217 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:16769217G>A uc003jft.3 - 10 1494 c.1026C>T c.(1024-1026)ATC>ATT p.I342I MYO10_uc010itx.2_5'Flank NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 342 Myosin head-like. axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 CACCAGCAGTGATAAATTCTA 0.493 4 16 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24537582 24537582 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:24537582C>T uc003jgr.1 - 3 765 c.433G>A c.(433-435)GAG>AAG p.E145K CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 145 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATCACAAACTCTGACTCTGGC 0.423 HNSCC(23;0.051) 37 72 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31466304 31466304 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:31466304C>A uc003jhg.2 - 18 2810 c.2451G>T c.(2449-2451)AAG>AAT p.K817N RNASEN_uc003jhh.2_Missense_Mutation_p.K780N|RNASEN_uc003jhi.2_Missense_Mutation_p.K780N NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 817 Necessary for interaction with DGCR8 and pri-miRNA processing activity. gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 TCTGTGCCAGCTTCTGTTTGT 0.418 26 45 --- --- --- --- PASS NUP155 9631 broad.mit.edu 37 5 37348656 37348656 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:37348656C>A uc003jku.1 - 9 1064 c.946G>T c.(946-948)GCC>TCC p.A316S NUP155_uc003jkt.1_Missense_Mutation_p.A257S|NUP155_uc010iuz.1_Missense_Mutation_p.A316S NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 316 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GACACAGAGGCAACTCTGCTC 0.338 10 69 --- --- --- --- PASS C6 729 broad.mit.edu 37 5 41181519 41181519 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:41181519C>A uc003jmk.2 - 7 1079 c.869G>T c.(868-870)AGT>ATT p.S290I C6_uc003jml.1_Missense_Mutation_p.S290I NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 290 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) GATATTTTCACTTCTCTTTGA 0.358 22 84 --- --- --- --- PASS ISL1 3670 broad.mit.edu 37 5 50683438 50683438 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:50683438C>A uc003jor.2 + 3 881 c.333C>A c.(331-333)AGC>AGA p.S111R NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 111 LIM zinc-binding 2. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) TGGCCTGCAGCCGCCAGCTCA 0.612 13 35 --- --- --- --- PASS ITGA1 3672 broad.mit.edu 37 5 52206169 52206169 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:52206169G>C uc003jou.2 + 14 1829 c.1777G>C c.(1777-1779)GCT>CCT p.A593P ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.A124P NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 593 Extracellular (Potential).|FG-GAP 6. axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) CGTGATAGGAGCTCCGCTGGA 0.428 34 23 --- --- --- --- PASS ITGA2 3673 broad.mit.edu 37 5 52377486 52377486 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:52377486T>A uc003joy.2 + 26 3247 c.3104T>A c.(3103-3105)GTA>GAA p.V1035E ITGA2_uc011cqa.1_RNA|ITGA2_uc011cqb.1_RNA|ITGA2_uc011cqc.1_Missense_Mutation_p.V959E|ITGA2_uc011cqd.1_RNA|ITGA2_uc011cqe.1_RNA NM_002203 NP_002194 P17301 ITA2_HUMAN integrin alpha 2 precursor 1035 Extracellular (Potential). axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity lung(1) 1 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TCTTCTTCTGTATCTTTCAAA 0.393 7 38 --- --- --- --- PASS CD180 4064 broad.mit.edu 37 5 66479329 66479329 + Nonsense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:66479329G>A uc003juy.2 - 3 1490 c.1342C>T c.(1342-1344)CAG>TAG p.Q448* NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 448 Extracellular (Potential).|LRR 15. inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TTCAGAACCTGAAGGAAATGG 0.448 30 38 --- --- --- --- PASS CCNB1 891 broad.mit.edu 37 5 68470119 68470119 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:68470119A>C uc003jvm.2 + 5 765 c.588A>C c.(586-588)GAA>GAC p.E196D CCNB1_uc011crd.1_Missense_Mutation_p.E196D|CCNB1_uc010ixb.2_Missense_Mutation_p.E196D NM_031966 NP_114172 P14635 CCNB1_HUMAN cyclin B1 196 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole 0 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) TGGGTCGGGAAGTCACTGGAA 0.418 31 41 --- --- --- --- PASS NUDT12 83594 broad.mit.edu 37 5 102895085 102895085 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:102895085T>A uc003koi.2 - 3 384 c.291A>T c.(289-291)TTA>TTT p.L97F NUDT12_uc011cvb.1_Missense_Mutation_p.L79F NM_031438 NP_113626 Q9BQG2 NUD12_HUMAN nudix-type motif 12 97 ANK 3. nucleus|peroxisome metal ion binding|NAD+ diphosphatase activity 0 all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423) Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221) CAGTAGCTAGTAAATTAGCTA 0.383 21 28 --- --- --- --- PASS KIF3A 11127 broad.mit.edu 37 5 132034944 132034944 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:132034944T>C uc003kxo.2 - 16 2124 c.1970A>G c.(1969-1971)GAG>GGG p.E657G KIF3A_uc003kxm.2_Missense_Mutation_p.E239G|KIF3A_uc003kxn.2_Missense_Mutation_p.E642G|KIF3A_uc011cxf.1_Missense_Mutation_p.E684G|KIF3A_uc003kxp.2_Missense_Mutation_p.E660G NM_007054 NP_008985 Q9Y496 KIF3A_HUMAN kinesin family member 3A 657 blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule centrosome|cytosol|kinesin II complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|protein binding pancreas(1) 1 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CAGACTCTCCTCAGTATAGGC 0.433 44 61 --- --- --- --- PASS H2AFY 9555 broad.mit.edu 37 5 134724704 134724704 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:134724704C>A uc003lam.1 - 2 290 c.80G>T c.(79-81)CGG>CTG p.R27L H2AFY_uc003lao.1_Missense_Mutation_p.R27L|H2AFY_uc003lan.1_Missense_Mutation_p.R27L|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.R27L|H2AFY_uc003las.1_Missense_Mutation_p.R27L|H2AFY_uc003lat.1_Missense_Mutation_p.R27L NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 27 Histone H2A. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CCGCAGCATCCGCCCCACGGG 0.612 21 25 --- --- --- --- PASS SLC23A1 9963 broad.mit.edu 37 5 138716052 138716052 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:138716052G>T uc003leh.2 - 6 589 c.492C>A c.(490-492)AGC>AGA p.S164R SLC23A1_uc003leg.2_Missense_Mutation_p.S168R NM_005847 NP_005838 Q9UHI7 S23A1_HUMAN solute carrier family 23 (nucleobase 164 Helical; (Potential). brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) Vitamin C(DB00126) CCTCCACCACGCTGGACACCA 0.577 3 7 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554588 140554588 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:140554588G>T uc003lit.2 + 1 2346 c.2172G>T c.(2170-2172)TCG>TCT p.S724S PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 724 Cytoplasmic (Potential). 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) GTCGCTGCTCGGTGCCTGAGG 0.667 39 55 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140604159 140604159 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:140604159C>A uc003ljb.2 + 1 1082 c.1082C>A c.(1081-1083)TCA>TAA p.S361* PCDHB14_uc011dal.1_Nonsense_Mutation_p.S208* NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 361 Cadherin 4.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAATGCCTCAGAGACCCTA 0.408 16 35 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140730146 140730146 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:140730146G>T uc003ljo.1 + 1 319 c.319G>T c.(319-321)GCT>TCT p.A107S PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Missense_Mutation_p.A107S NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 107 Cadherin 1.|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) CGAAACGGTCGCTGAAAACCC 0.418 14 23 --- --- --- --- PASS PCDHGA12 26025 broad.mit.edu 37 5 140811264 140811264 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:140811264G>T uc003lkt.1 + 1 1107 c.938G>T c.(937-939)GGA>GTA p.G313V PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Missense_Mutation_p.G313V NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 313 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGGAGTCAGGATTCTACCAG 0.483 22 53 --- --- --- --- PASS ADRB2 154 broad.mit.edu 37 5 148206670 148206670 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:148206670C>A uc003lpr.1 + 1 515 c.276C>A c.(274-276)GCC>GCA p.A92A SH3TC2_uc003lpp.1_Intron NM_000024 NP_000015 P07550 ADRB2_HUMAN adrenergic, beta-2-, receptor, surface 92 Helical; Name=2. activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TTGGGGCCGCCCATATTCTTA 0.542 13 22 --- --- --- --- PASS SLC36A2 153201 broad.mit.edu 37 5 150722495 150722495 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:150722495C>G uc003lty.2 - 4 524 c.394G>C c.(394-396)GAA>CAA p.E132Q GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E132Q|SLC36A2_uc011dct.1_Missense_Mutation_p.E132Q NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 132 Cytoplasmic (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGGTTGGCTTCTAGTCCATGC 0.512 3 53 --- --- --- --- PASS NMUR2 56923 broad.mit.edu 37 5 151784185 151784185 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:151784185G>T uc003luv.2 - 1 656 c.490C>A c.(490-492)CTC>ATC p.L164I NM_020167 NP_064552 Q9GZQ4 NMUR2_HUMAN neuromedin U receptor 2 164 Cytoplasmic (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction integral to membrane|plasma membrane GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity ovary(3)|skin(2)|lung(1)|breast(1)|pancreas(1) 8 Medulloblastoma(196;0.091)|all_hematologic(541;0.103) Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672) AGGATCCTGAGGGCCCGGCGC 0.632 9 22 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154394676 154394676 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:154394676G>T uc010jih.1 + 1 1417 c.1257G>T c.(1255-1257)AGG>AGT p.R419S NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 419 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) TGTTGGAGAGGATCATTTTGA 0.473 19 49 --- --- --- --- PASS KIF4B 285643 broad.mit.edu 37 5 154395465 154395465 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:154395465G>T uc010jih.1 + 1 2206 c.2046G>T c.(2044-2046)AGG>AGT p.R682S NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 682 Interaction with PRC1 (By similarity).|Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ACCGTAAGAGGCAATATGAGC 0.423 17 40 --- --- --- --- PASS FABP6 2172 broad.mit.edu 37 5 159661868 159661868 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:159661868C>T uc003lya.1 + 3 413 c.285C>T c.(283-285)TTC>TTT p.F95F FABP6_uc003lxx.1_Silent_p.F144F|FABP6_uc003lxz.1_Silent_p.F144F NM_001445 NP_001436 P51161 FABP6_HUMAN gastrotropin isoform 2 95 bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation cytosol transporter activity 0 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.116) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGTGAATTTCCCCAACTATC 0.443 10 22 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168093550 168093550 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:168093550C>T uc003mab.2 - 36 4901 c.4481G>A c.(4480-4482)CGG>CAG p.R1494Q SLIT3_uc010jjg.2_Missense_Mutation_p.R1501Q NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 1494 CTCK. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTATTTCCGCCGCTTGCTGCG 0.607 11 7 --- --- --- --- PASS SLIT3 6586 broad.mit.edu 37 5 168671733 168671733 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:168671733T>A uc003mab.2 - 3 737 c.317A>T c.(316-318)CAG>CTG p.Q106L SLIT3_uc010jjg.2_Missense_Mutation_p.Q106L|SLIT3_uc010jji.2_Missense_Mutation_p.Q106L NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 106 LRR 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCAGGTCCTGGAAGGCGCC 0.423 12 26 --- --- --- --- PASS CCDC99 54908 broad.mit.edu 37 5 169023621 169023621 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:169023621G>T uc003mae.3 + 8 1227 c.948G>T c.(946-948)CAG>CAT p.Q316H CCDC99_uc010jjj.2_Missense_Mutation_p.Q245H|CCDC99_uc011deq.1_Missense_Mutation_p.Q133H|CCDC99_uc010jjk.2_Missense_Mutation_p.Q42H NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 316 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTGAGCAGCAGGAACGGTTGC 0.348 20 43 --- --- --- --- PASS MAML1 9794 broad.mit.edu 37 5 179192629 179192629 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr5:179192629G>C uc003mkm.2 + 2 881 c.618G>C c.(616-618)GAG>GAC p.E206D MAML1_uc003mkn.1_Missense_Mutation_p.E206D NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 206 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACCCCAGTGAGTCATTTCCTC 0.527 8 14 --- --- --- --- PASS DSP 1832 broad.mit.edu 37 6 7580280 7580280 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:7580280A>T uc003mxp.1 + 23 4136 c.3857A>T c.(3856-3858)CAG>CTG p.Q1286L DSP_uc003mxq.1_Intron NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 1286 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAGATAATGCAGAAGAAGCAG 0.552 13 40 --- --- --- --- PASS HIST1H2BF 8343 broad.mit.edu 37 6 26200040 26200040 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:26200040A>G uc003ngx.2 + 1 254 c.254A>G c.(253-255)AAC>AGC p.N85S HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank NM_003522 NP_003513 P62807 H2B1C_HUMAN histone cluster 1, H2bf 85 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding 0 all_hematologic(11;0.196) GCGCATTACAACAAGCGCTCC 0.627 17 92 --- --- --- --- PASS BTN2A1 11120 broad.mit.edu 37 6 26468327 26468327 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:26468327G>T uc003nib.1 + 8 1346 c.1134G>T c.(1132-1134)CGG>CGT p.R378R BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Silent_p.R226R|BTN2A1_uc011dko.1_Silent_p.R317R|BTN2A1_uc010jqk.1_Silent_p.R138R NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 378 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 TCCTAGGCCGGGAGAGCTTCG 0.567 20 52 --- --- --- --- PASS NKAPL 222698 broad.mit.edu 37 6 28227293 28227293 + Silent SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:28227293T>C uc003nkt.2 + 1 196 c.144T>C c.(142-144)CGT>CGC p.R48R ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 48 upper_aerodigestive_tract(1)|ovary(1) 2 CCCGCGGCCGTGAGGGCCTCA 0.652 14 44 --- --- --- --- PASS OR12D2 26529 broad.mit.edu 37 6 29365234 29365234 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:29365234C>A uc003nmf.3 + 1 819 c.758C>A c.(757-759)CCT>CAT p.P253H NM_013936 NP_039224 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, 253 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTCTATGCACCTGTTCTTTTC 0.453 15 134 --- --- --- --- PASS TRIM10 10107 broad.mit.edu 37 6 30122178 30122178 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:30122178C>A uc003npo.3 - 7 1090 c.1014G>T c.(1012-1014)TGG>TGT p.W338C TRIM10_uc003npn.2_Missense_Mutation_p.W338C NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 338 B30.2/SPRY. cytoplasm zinc ion binding 0 GTGAGTTCTGCCATTTGTAGG 0.567 7 33 --- --- --- --- PASS KIAA1949 170954 broad.mit.edu 37 6 30653372 30653372 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:30653372C>A uc003nra.2 - 2 655 c.424G>T c.(424-426)GAG>TAG p.E142* KIAA1949_uc003nrb.3_Nonsense_Mutation_p.E142* NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 142 cytoplasm|cytoskeleton actin binding 0 CTTAGTCTCTCTTCTCTTGAC 0.632 20 123 --- --- --- --- PASS DDR1 780 broad.mit.edu 37 6 30865331 30865331 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:30865331G>C uc003nrr.2 + 16 2432 c.2173G>C c.(2173-2175)GGG>CGG p.G725R DDR1_uc010jse.2_Missense_Mutation_p.G688R|DDR1_uc003nrq.2_Missense_Mutation_p.G688R|DDR1_uc003nrs.2_Missense_Mutation_p.G725R|DDR1_uc003nrt.2_Missense_Mutation_p.G688R|DDR1_uc011dms.1_Missense_Mutation_p.G706R|DDR1_uc003nru.2_Missense_Mutation_p.G688R|DDR1_uc003nrv.2_Missense_Mutation_p.G731R|DDR1_uc003nrw.1_Missense_Mutation_p.G460R|DDR1_uc003nrz.1_Missense_Mutation_p.G50R NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 725 Cytoplasmic (Potential).|Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) GGCAGCCGAGGGGGCCCCTGG 0.642 9 19 --- --- --- --- PASS VARS2 57176 broad.mit.edu 37 6 30888132 30888132 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:30888132G>T uc003nsc.1 + 13 1948 c.1316G>T c.(1315-1317)CGG>CTG p.R439L VARS2_uc011dmx.1_Missense_Mutation_p.R439L|VARS2_uc011dmy.1_Missense_Mutation_p.R299L|VARS2_uc011dmz.1_Missense_Mutation_p.R469L|VARS2_uc011dna.1_Missense_Mutation_p.R437L|VARS2_uc011dnb.1_RNA|VARS2_uc011dnc.1_RNA|VARS2_uc011dnd.1_5'UTR|VARS2_uc010jsg.1_5'UTR|VARS2_uc010jsh.1_5'Flank NM_020442 NP_065175 Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 439 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity ovary(3)|central_nervous_system(1) 4 TTTGTGGCCCGGGAAAAGATA 0.517 11 23 --- --- --- --- PASS CCHCR1 54535 broad.mit.edu 37 6 31110428 31110428 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:31110428C>A uc003nsr.3 - 18 2413 c.2290G>T c.(2290-2292)GTT>TTT p.V764F CCHCR1_uc011dne.1_Missense_Mutation_p.V750F|CCHCR1_uc003nsq.3_Missense_Mutation_p.V817F|CCHCR1_uc003nsp.3_Missense_Mutation_p.V853F NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 764 cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CCTTGACAAACAGCTTCCTCT 0.557 5 43 --- --- --- --- PASS LTB 4050 broad.mit.edu 37 6 31548597 31548597 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:31548597G>C uc003nuk.2 - 4 632 c.624C>G c.(622-624)GGC>GGG p.G208G LTB_uc003nul.2_3'UTR NM_002341 NP_002332 Q06643 TNFC_HUMAN lymphotoxin-beta isoform a 208 Extracellular (Potential). cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction extracellular space|integral to membrane cytokine activity|tumor necrosis factor receptor binding 0 Infliximab(DB00065)|Simvastatin(DB00641) GCACCAGGCCGCCGAACCCCA 0.657 5 10 --- --- --- --- PASS EGFL8 80864 broad.mit.edu 37 6 32134487 32134487 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:32134487C>T uc003oab.1 + 4 292 c.234C>T c.(232-234)TAC>TAT p.Y78Y PPT2_uc003nzy.1_RNA|EGFL8_uc003oac.1_Silent_p.Y78Y NM_030652 NP_085155 Q99944 EGFL8_HUMAN NG3 protein precursor 78 EMI. extracellular region|integral to membrane calcium ion binding 0 GGACCATGTACCGCGTTATGT 0.637 12 28 --- --- --- --- PASS RPS10 6204 broad.mit.edu 37 6 34386164 34386164 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:34386164T>A uc003ojm.2 - 5 658 c.438A>T c.(436-438)TCA>TCT p.S146S RPS10_uc003ojn.2_Silent_p.S146S NM_001014 NP_001005 P46783 RS10_HUMAN ribosomal protein S10 146 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding 0 ATTCGGTTGCTGACCCAGCCC 0.458 5 27 --- --- --- --- PASS UHRF1BP1 54887 broad.mit.edu 37 6 34826575 34826575 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:34826575A>G uc003oju.3 + 14 2676 c.2442A>G c.(2440-2442)GCA>GCG p.A814A UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA NM_017754 NP_060224 Q6BDS2 URFB1_HUMAN ICBP90 binding protein 1 814 ovary(3) 3 AGGATGTAGCAGATGTTCATA 0.507 22 135 --- --- --- --- PASS SLC26A8 116369 broad.mit.edu 37 6 35987385 35987385 + Missense_Mutation SNP T G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:35987385T>G uc003olm.2 - 2 211 c.100A>C c.(100-102)ACC>CCC p.T34P SLC26A8_uc003oln.2_Missense_Mutation_p.T34P|SLC26A8_uc003oll.2_Missense_Mutation_p.T34P NM_052961 NP_443193 Q96RN1 S26A8_HUMAN solute carrier family 26, member 8 isoform a 34 Cytoplasmic (Potential). cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity ovary(2) 2 TGTTGAAAGGTCTCCTCATTG 0.498 9 20 --- --- --- --- PASS MOCS1 4337 broad.mit.edu 37 6 39880094 39880094 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:39880094C>A uc003opb.2 - 7 1033 c.895G>T c.(895-897)GGC>TGC p.G299C MOCS1_uc003opa.2_Missense_Mutation_p.G299C|MOCS1_uc003opc.2_Missense_Mutation_p.G299C|MOCS1_uc003opd.2_Missense_Mutation_p.G299C|MOCS1_uc003ope.2_Missense_Mutation_p.G212C NM_005942 NP_005933 Q9NZB8 MOCS1_HUMAN molybdenum cofactor synthesis-step 1 protein 299 Molybdenum cofactor biosynthesis protein A. Mo-molybdopterin cofactor biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol|molybdopterin synthase complex|nucleus 4 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding ovary(1)|liver(1)|central_nervous_system(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) CTGATCTGGCCTTGGAAGCCA 0.557 17 56 --- --- --- --- PASS TREM1 54210 broad.mit.edu 37 6 41250461 41250461 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:41250461C>T uc003oqf.1 - 2 142 c.78G>A c.(76-78)GAG>GAA p.E26E TREM1_uc003oqg.1_Silent_p.E26E NM_018643 NP_061113 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 26 Extracellular (Potential).|Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) CATACTTTTCCTCAGTTAATT 0.448 34 90 --- --- --- --- PASS PGC 5225 broad.mit.edu 37 6 41704721 41704721 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:41704721C>A uc003ora.1 - 9 1085 c.1036G>T c.(1036-1038)GGA>TGA p.G346* TFEB_uc003oqs.1_5'Flank|TFEB_uc003oqt.1_5'Flank|TFEB_uc003oqu.1_5'Flank|TFEB_uc010jxq.1_5'Flank NM_002630 NP_002621 P20142 PEPC_HUMAN progastricsin (pepsinogen C) precursor 346 digestion|proteolysis extracellular space aspartic-type endopeptidase activity 0 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) GGCTCGACTCCCACGGTGCAG 0.418 7 19 --- --- --- --- PASS CLIC5 53405 broad.mit.edu 37 6 45917079 45917079 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:45917079G>A uc003oxv.3 - 3 796 c.690C>T c.(688-690)CAC>CAT p.H230H CLIC5_uc003oxu.3_Silent_p.H71H|CLIC5_uc003oxx.2_Silent_p.H71H NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 230 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 GGAAGGGCGGGTGCGTGCCGG 0.542 22 71 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46801051 46801051 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:46801051C>A uc010jzh.1 + 11 1427 c.1385C>A c.(1384-1386)TCG>TAG p.S462* MEP1A_uc011dwg.1_Nonsense_Mutation_p.S184*|MEP1A_uc011dwh.1_Nonsense_Mutation_p.S490*|MEP1A_uc011dwi.1_Nonsense_Mutation_p.S362* NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 462 MATH.|Extracellular (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) TTCTACAATTCGGAGGGATAT 0.502 24 38 --- --- --- --- PASS DEFB112 245915 broad.mit.edu 37 6 50011361 50011361 + Missense_Mutation SNP G C C rs144227676 byFrequency TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:50011361G>C uc011dws.1 - 2 269 c.269C>G c.(268-270)ACG>AGG p.T90R NM_001037498 NP_001032587 Q30KQ8 DB112_HUMAN beta-defensin 112 precursor 90 defense response to bacterium extracellular region central_nervous_system(1) 1 Lung NSC(77;0.042) ATTTGGGTCCGTAGGGTCACA 0.413 15 46 --- --- --- --- PASS C6orf142 90523 broad.mit.edu 37 6 54025560 54025560 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:54025560G>C uc003pcg.3 + 7 970 c.857G>C c.(856-858)AGG>ACG p.R286T C6orf142_uc003pcf.2_Missense_Mutation_p.R810T|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Missense_Mutation_p.R821T NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 286 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) TCTCCTTCAAGGTCCCCAAAG 0.244 4 29 --- --- --- --- PASS KHDRBS2 202559 broad.mit.edu 37 6 62442636 62442636 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:62442636C>A uc003peg.2 - 7 1091 c.844G>T c.(844-846)GAC>TAC p.D282Y NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 282 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TAGGTCTGGTCATCATATTCA 0.383 10 66 --- --- --- --- PASS COL19A1 1310 broad.mit.edu 37 6 70859619 70859619 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:70859619G>A uc003pfc.1 + 28 2034 c.1917G>A c.(1915-1917)GAG>GAA p.E639E COL19A1_uc010kam.1_Silent_p.E535E NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 639 Triple-helical region 3 (COL3). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 CAGCTGGAGAGCCAGGTATTC 0.388 9 44 --- --- --- --- PASS CD109 135228 broad.mit.edu 37 6 74492421 74492421 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:74492421G>T uc003php.2 + 18 2473 c.2048G>T c.(2047-2049)AGT>ATT p.S683I CD109_uc010kaz.2_Intron|CD109_uc003phq.2_Missense_Mutation_p.S683I|CD109_uc010kba.2_Missense_Mutation_p.S606I NM_133493 NP_598000 Q6YHK3 CD109_HUMAN CD109 antigen isoform 1 precursor 683 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity large_intestine(2)|ovary(2) 4 TTGGGTAGCAGTCCACATGTC 0.353 16 64 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75892940 75892940 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:75892940C>G uc003phs.2 - 10 1883 c.1717G>C c.(1717-1719)GCA>CCA p.A573P COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.A231P NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 573 VWFA 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 ACACCAACTGCAAAGATTTCA 0.438 19 66 --- --- --- --- PASS PRSS35 167681 broad.mit.edu 37 6 84234168 84234168 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:84234168C>A uc003pjz.2 + 2 1171 c.1008C>A c.(1006-1008)TAC>TAA p.Y336* PRSS35_uc010kbm.2_Nonsense_Mutation_p.Y336* NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 336 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) ATCTCCTTTACCAATACTGCG 0.483 10 49 --- --- --- --- PASS CYB5R4 51167 broad.mit.edu 37 6 84627783 84627783 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:84627783A>T uc003pkf.2 + 6 637 c.505A>T c.(505-507)AGC>TGC p.S169C NM_016230 NP_057314 Q7L1T6 NB5R4_HUMAN cytochrome b5 reductase 4 169 CS. cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process endoplasmic reticulum|perinuclear region of cytoplasm cytochrome-b5 reductase activity|heme binding|NAD(P)H oxidase activity breast(2) 2 all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128) BRCA - Breast invasive adenocarcinoma(397;0.0871) TAGTTATCCAAGGTATGCATT 0.303 7 46 --- --- --- --- PASS MRAP2 112609 broad.mit.edu 37 6 84772676 84772676 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:84772676G>T uc003pkg.3 + 3 382 c.192G>T c.(190-192)CTG>CTT p.L64L MRAP2_uc010kbo.2_Intron NM_138409 NP_612418 Q96G30 MRAP2_HUMAN melanocortin 2 receptor accessory protein 2 64 positive regulation of cAMP biosynthetic process|protein localization at cell surface endoplasmic reticulum|plasma membrane corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding skin(2) 2 TTTTTGTGCTGACCTTGCTGA 0.413 13 51 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85446454 85446454 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:85446454G>T uc003pkl.1 - 8 1773 c.1773C>A c.(1771-1773)ACC>ACA p.T591T TBX18_uc010kbq.1_Intron NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 591 multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) AGCTTCCTAGGGTCCTAGAGT 0.468 5 44 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85457707 85457707 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:85457707C>A uc003pkl.1 - 5 870 c.870G>T c.(868-870)GGG>GGT p.G290G TBX18_uc010kbq.1_Silent_p.G132G NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 290 T-box. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TTACTCCCTCCCCGGATGGAA 0.453 7 31 --- --- --- --- PASS CGA 1081 broad.mit.edu 37 6 87795487 87795487 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:87795487T>A uc003plj.1 - 4 439 c.338A>T c.(337-339)TAT>TTT p.Y113F NM_000735 NP_000726 P01215 GLHA_HUMAN glycoprotein hormones, alpha polypeptide 113 hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity ovary(1) 1 all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102) BRCA - Breast invasive adenocarcinoma(108;0.0484) AGATTTGTGATAATAACAAGT 0.363 6 17 --- --- --- --- PASS FHL5 9457 broad.mit.edu 37 6 97063549 97063549 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:97063549C>T uc003pos.1 + 7 1161 c.756C>T c.(754-756)TGC>TGT p.C252C FHL5_uc003pot.1_Silent_p.C252C NM_020482 NP_065228 Q5TD97 FHL5_HUMAN activator of cAMP-responsive element modulator 252 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) GCTTTAACTGCGGGAAATGCT 0.443 14 28 --- --- --- --- PASS GPR63 81491 broad.mit.edu 37 6 97247021 97247021 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:97247021T>A uc010kcl.2 - 3 1065 c.587A>T c.(586-588)AAG>ATG p.K196M GPR63_uc003pou.2_Missense_Mutation_p.K196M NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 196 Cytoplasmic (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) AATCAGAACCTTAGCTCTATA 0.448 17 63 --- --- --- --- PASS C6orf167 253714 broad.mit.edu 37 6 97610000 97610000 + Missense_Mutation SNP C T T rs149054595 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:97610000C>T uc003ppb.2 - 22 3529 c.3263G>A c.(3262-3264)CGC>CAC p.R1088H C6orf167_uc011eaf.1_Missense_Mutation_p.R1048H NM_198468 NP_940870 Q6ZRQ5 MMS22_HUMAN hypothetical protein LOC253714 1088 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding 0 all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.148)|Colorectal(196;0.198) BRCA - Breast invasive adenocarcinoma(108;0.0457) GGATGCTAAGCGAGGAGGAGG 0.408 5 35 --- --- --- --- PASS SIM1 6492 broad.mit.edu 37 6 100838339 100838339 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:100838339G>T uc003pqj.3 - 11 2406 c.2199C>A c.(2197-2199)GGC>GGA p.G733G SIM1_uc010kcu.2_Silent_p.G733G NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 733 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AGCCATTACAGCCCAAGGAAT 0.448 14 87 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102074447 102074447 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:102074447C>A uc003pqp.3 + 3 725 c.476C>A c.(475-477)GCC>GAC p.A159D GRIK2_uc003pqn.2_Missense_Mutation_p.A159D|GRIK2_uc003pqo.3_Missense_Mutation_p.A159D|GRIK2_uc010kcw.2_Missense_Mutation_p.A159D NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 159 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CTCAGCCGTGCCATTTTAGAC 0.463 11 41 --- --- --- --- PASS GRIK2 2898 broad.mit.edu 37 6 102074448 102074448 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:102074448C>A uc003pqp.3 + 3 726 c.477C>A c.(475-477)GCC>GCA p.A159A GRIK2_uc003pqn.2_Silent_p.A159A|GRIK2_uc003pqo.3_Silent_p.A159A|GRIK2_uc010kcw.2_Silent_p.A159A NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 159 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TCAGCCGTGCCATTTTAGACC 0.458 11 42 --- --- --- --- PASS PRDM1 639 broad.mit.edu 37 6 106555270 106555270 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:106555270A>C uc003prd.2 + 7 2621 c.2387A>C c.(2386-2388)GAT>GCT p.D796A PRDM1_uc003pre.2_Missense_Mutation_p.D662A NM_001198 NP_001189 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain isoform 796 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(54)|ovary(1)|skin(1) 56 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GAGTCATCAGATCTACCCCTC 0.453 D|N|Mis|F|S DLBCL 11 45 --- --- --- --- PASS NR2E1 7101 broad.mit.edu 37 6 108499422 108499422 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:108499422T>C uc003psg.2 + 5 1374 c.619T>C c.(619-621)TCC>CCC p.S207P NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN nuclear receptor subfamily 2, group E, member 1 207 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) GCCAGCCTTCTCCACGCTGTC 0.507 11 31 --- --- --- --- PASS C6orf182 285753 broad.mit.edu 37 6 109476454 109476454 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:109476454G>A uc010kdk.2 + 8 1178 c.601G>A c.(601-603)GAA>AAA p.E201K C6orf182_uc003psv.3_Missense_Mutation_p.E185K|C6orf182_uc003psw.3_Missense_Mutation_p.E201K|C6orf182_uc003psx.3_Missense_Mutation_p.E201K|C6orf182_uc010kdl.2_Missense_Mutation_p.E201K|C6orf182_uc003psy.3_Missense_Mutation_p.E201K NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 201 Potential. microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) ACATTTAGAAGAAAAACTTAA 0.299 14 47 --- --- --- --- PASS ZBTB24 9841 broad.mit.edu 37 6 109787067 109787067 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:109787067T>A uc003ptl.1 - 7 2249 c.2081A>T c.(2080-2082)CAG>CTG p.Q694L MICAL1_uc011eaq.1_5'UTR|ZBTB24_uc011ear.1_RNA|ZBTB24_uc010kds.1_Missense_Mutation_p.Q638L|ZBTB24_uc010kdt.1_RNA NM_014797 NP_055612 O43167 ZBT24_HUMAN zinc finger and BTB domain containing 24 isoform 694 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059) GCTCTGCTCCTGGCCAAGTGG 0.552 16 45 --- --- --- --- PASS FYN 2534 broad.mit.edu 37 6 112035579 112035579 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:112035579T>A uc003pvj.2 - 4 655 c.315A>T c.(313-315)AAA>AAT p.K105N FYN_uc003pvi.2_Missense_Mutation_p.K105N|FYN_uc003pvk.2_Missense_Mutation_p.K105N|FYN_uc003pvh.2_Missense_Mutation_p.K105N NM_002037 NP_002028 P06241 FYN_HUMAN protein-tyrosine kinase fyn isoform a 105 SH3. axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|endosome|plasma membrane ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity lung(5)|central_nervous_system(1)|skin(1) 7 all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211) all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102) Dasatinib(DB01254) ATTTTTCTCCTTTGTGAAAAC 0.438 4 35 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132179888 132179888 + Splice_Site SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:132179888G>A uc011ecf.1 + 7 815 c.795_splice c.e7+1 p.T265_splice ENPP1_uc003qcy.2_5'Flank NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) CATTGTCACCGTAAGCTCTGC 0.318 6 15 --- --- --- --- PASS TAAR6 319100 broad.mit.edu 37 6 132891790 132891790 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:132891790C>A uc011eck.1 + 1 330 c.330C>A c.(328-330)TGC>TGA p.C110* NM_175067 NP_778237 Q96RI8 TAAR6_HUMAN trace amine associated receptor 6 110 Helical; Name=3; (Potential). plasma membrane G-protein coupled receptor activity ovary(2)|skin(1) 3 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792) TCCACACCTGCTGTGATGTGG 0.488 26 108 --- --- --- --- PASS VNN2 8875 broad.mit.edu 37 6 133072503 133072503 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:133072503G>T uc003qdt.2 - 5 992 c.981C>A c.(979-981)ATC>ATA p.I327I VNN2_uc003qds.2_Silent_p.I36I|VNN2_uc010kgb.2_Intron|VNN2_uc003qdv.2_Silent_p.I274I NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 327 CN hydrolase. cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GAAATGGTTTGATGGTGGTGG 0.443 18 70 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144835120 144835120 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:144835120C>T uc003qkt.2 + 35 5112 c.5020C>T c.(5020-5022)CTA>TTA p.L1674L NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1674 Interaction with SYNM.|Spectrin 12. 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) AGCTGAAGCTCTATTGGATGA 0.378 21 44 --- --- --- --- PASS LPA 4018 broad.mit.edu 37 6 161007565 161007565 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr6:161007565T>C uc003qtl.2 - 26 4165 c.4045A>G c.(4045-4047)ACG>GCG p.T1349A NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3857 Kringle 34. 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) GGACATTGCGTCAGGTTGCAG 0.522 12 33 --- --- --- --- PASS MICALL2 79778 broad.mit.edu 37 7 1489875 1489875 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:1489875C>A uc003skj.3 - 2 339 c.192_splice c.e2+1 p.L64_splice MICALL2_uc003skl.1_RNA NM_182924 NP_891554 Q8IY33 MILK2_HUMAN MICAL-like 2 isoform 1 cytoplasm|cytoskeleton zinc ion binding central_nervous_system(1) 1 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) GGGCCACTCACCAGTTTATTG 0.562 30 70 --- --- --- --- PASS MMD2 221938 broad.mit.edu 37 7 4947082 4947082 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:4947082G>A uc003sno.3 - 7 954 c.758C>T c.(757-759)GCC>GTC p.A253V MMD2_uc003snl.1_RNA|MMD2_uc003snn.3_Missense_Mutation_p.A229V|MMD2_uc010ksq.2_3'UTR NM_001100600 NP_001094070 Q8IY49 PAQRA_HUMAN monocyte to macrophage 253 Helical; (Potential). integral to membrane receptor activity central_nervous_system(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14) CCTCCAGATGGCATAGTAGTG 0.547 19 44 --- --- --- --- PASS FERD3L 222894 broad.mit.edu 37 7 19184786 19184786 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:19184786C>A uc003suo.1 - 1 259 c.200G>T c.(199-201)TGC>TTC p.C67F uc003sun.1_RNA NM_152898 NP_690862 Q96RJ6 FER3L_HUMAN nephew of atonal 3 67 Poly-Glu. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding large_intestine(1) 1 gtccacttcgcactcctcttc 0.373 5 23 --- --- --- --- PASS EVX1 2128 broad.mit.edu 37 7 27285911 27285911 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:27285911C>A uc003szd.1 + 3 1577 c.1091C>A c.(1090-1092)GCT>GAT p.A364D EVX1_uc011jzn.1_Missense_Mutation_p.A182D|EVX1_uc010kuy.1_3'UTR NM_001989 NP_001980 P49640 EVX1_HUMAN even-skipped homeobox 1 364 Ala-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity skin(1) 1 GCGCCCCGGGCTGCCGCCGCC 0.756 4 5 --- --- --- --- PASS FAM188B 84182 broad.mit.edu 37 7 30831179 30831179 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:30831179C>T uc003tbt.2 + 5 1139 c.1062C>T c.(1060-1062)CCC>CCT p.P354P FAM188B_uc010kwe.2_Silent_p.P325P NM_032222 NP_115598 Q4G0A6 F188B_HUMAN hypothetical protein LOC84182 354 0 GCAGCCAGCCCGCACCTGTCA 0.542 7 21 --- --- --- --- PASS ANLN 54443 broad.mit.edu 37 7 36447361 36447361 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:36447361A>G uc003tff.2 + 5 1096 c.892A>G c.(892-894)AAA>GAA p.K298E ANLN_uc011kaz.1_Missense_Mutation_p.K210E|ANLN_uc003tfg.2_Missense_Mutation_p.K298E|ANLN_uc010kxe.2_Missense_Mutation_p.K298E NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN anillin, actin binding protein 298 Interaction with F-actin. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding ovary(2)|skin(1) 3 TTCTCCAGTGAAATCTACTAC 0.353 16 27 --- --- --- --- PASS CDK13 8621 broad.mit.edu 37 7 40118369 40118369 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:40118369C>G uc003thh.3 + 11 3230 c.2948C>G c.(2947-2949)CCT>CGT p.P983R CDK13_uc003thi.3_Missense_Mutation_p.P983R|CDK13_uc003thj.2_Missense_Mutation_p.P34R NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 983 Protein kinase. alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 GCCTTGGATCCTAGTAAGCGC 0.448 10 58 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42005485 42005485 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:42005485C>T uc011kbh.1 - 15 3277 c.3186G>A c.(3184-3186)TCG>TCA p.S1062S GLI3_uc011kbg.1_Silent_p.S1003S NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1062 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GACAGGGGGACGAGTGGAAGT 0.642 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 5 34 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48550699 48550699 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:48550699T>C uc003toq.2 + 51 13569 c.13544T>C c.(13543-13545)GTC>GCC p.V4515A ABCA13_uc010kys.1_Missense_Mutation_p.V1590A|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Missense_Mutation_p.V245A NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4515 Helical; (Potential). transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TTGGTTTCCGTCTGCCTGTGT 0.433 6 45 --- --- --- --- PASS AUTS2 26053 broad.mit.edu 37 7 70255478 70255478 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:70255478G>A uc003tvw.3 + 19 4019 c.3276G>A c.(3274-3276)AGG>AGA p.R1092R AUTS2_uc003tvx.3_Silent_p.R1068R|AUTS2_uc011keg.1_Silent_p.R544R NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1092 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGCTGGGCAGGGACTTCCTGC 0.627 4 19 --- --- --- --- PASS CALN1 83698 broad.mit.edu 37 7 71252799 71252799 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:71252799C>A uc003twa.3 - 6 1148 c.621G>T c.(619-621)CTG>CTT p.L207L CALN1_uc003twb.3_Silent_p.L249L|CALN1_uc003twc.3_Silent_p.L207L NM_001017440 NP_001017440 Q9BXU9 CABP8_HUMAN calneuron 1 isoform 2 207 Helical; Anchor for type IV membrane protein; (Potential). Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding skin(1) 1 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TGGCTGCAATCAGCATGACAC 0.592 4 27 --- --- --- --- PASS FGL2 10875 broad.mit.edu 37 7 76828528 76828528 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:76828528G>T uc003ugb.2 - 1 623 c.583C>A c.(583-585)CCC>ACC p.P195T CCDC146_uc003ufz.1_Intron|CCDC146_uc003uga.2_Intron NM_006682 NP_006673 Q14314 FGL2_HUMAN fibrinogen-like 2 precursor 195 signal transduction fibrinogen complex receptor binding skin(2) 2 TCTTGGCTGGGACACTTTGAA 0.313 13 60 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87049318 87049318 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:87049318C>A uc003uiv.1 - 19 2466 c.2390G>T c.(2389-2391)AGA>ATA p.R797I ABCB4_uc003uiw.1_Missense_Mutation_p.R797I|ABCB4_uc003uix.1_Missense_Mutation_p.R797I NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 797 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) TCCTACCTGTCTTAGCATTGC 0.428 20 83 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87170713 87170713 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:87170713A>G uc003uiz.1 - 19 2697 c.2279T>C c.(2278-2280)CTA>CCA p.L760P ABCB1_uc011khc.1_Missense_Mutation_p.L696P NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 760 Helical; (Potential).|ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) TCCAAGGGCTAGAAACAATAG 0.299 11 49 --- --- --- --- PASS ABCB1 5243 broad.mit.edu 37 7 87174183 87174183 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:87174183C>A uc003uiz.1 - 17 2438 c.2020G>T c.(2020-2022)GGA>TGA p.G674* ABCB1_uc011khc.1_Nonsense_Mutation_p.G610* NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 674 Cytoplasmic (Potential). G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GCTTGTGATCCACGGACACTC 0.408 12 67 --- --- --- --- PASS COL1A2 1278 broad.mit.edu 37 7 94059648 94059648 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:94059648C>T uc003ung.1 + 52 4515 c.4044C>T c.(4042-4044)GAC>GAT p.D1348D COL1A2_uc011kib.1_Silent_p.D200D NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 1348 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CACCTTTGGACATCGGTGGTG 0.358 HNSCC(75;0.22) 25 121 --- --- --- --- PASS ASB4 51666 broad.mit.edu 37 7 95125305 95125305 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:95125305C>A uc011kij.1 + 2 423 c.423C>A c.(421-423)CAC>CAA p.H141Q ASB4_uc003unx.2_Missense_Mutation_p.H141Q NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 141 ANK 3. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) TAAGTGGACACACAGCTTTGC 0.468 12 41 --- --- --- --- PASS SLC25A13 10165 broad.mit.edu 37 7 95751058 95751058 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:95751058C>A uc003uof.3 - 17 1942 c.1751_splice c.e17-1 p.A584_splice SLC25A13_uc003uog.3_Splice_Site_p.A585_splice|SLC25A13_uc011kik.1_Splice_Site_p.A476_splice NM_014251 NP_055066 Q9UJS0 CMC2_HUMAN solute carrier family 25, member 13 isoform 2 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) AATACACGAGCTTTAAAAAAA 0.348 10 79 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100345809 100345809 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:100345809T>C uc003uwj.2 + 10 1238 c.1073T>C c.(1072-1074)GTT>GCT p.V358A ZAN_uc003uwk.2_Missense_Mutation_p.V358A|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 358 MAM 2.|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) GCTGTGGCAGTTGATGCAACC 0.617 4 29 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100679498 100679498 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:100679498A>C uc003uxp.1 + 3 4854 c.4801A>C c.(4801-4803)AAA>CAA p.K1601Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1601 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|25. 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) TATTGACTCCAAAACTCAGGT 0.468 26 126 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100683521 100683521 + Missense_Mutation SNP G A A rs150470478 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:100683521G>A uc003uxp.1 + 3 8877 c.8824G>A c.(8824-8826)GGT>AGT p.G2942S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2942 Extracellular (Potential).|47.|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) GCCAGTGGCCGGTTCTGAGGC 0.488 47 175 --- --- --- --- PASS PMPCB 9512 broad.mit.edu 37 7 102944925 102944925 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:102944925G>T uc003vbl.2 + 6 758 c.724G>T c.(724-726)GCT>TCT p.A242S PMPCB_uc010liu.1_Missense_Mutation_p.A242S|PMPCB_uc003vbk.1_Missense_Mutation_p.A242S|PMPCB_uc003vbm.2_Missense_Mutation_p.A151S|PMPCB_uc010liv.2_Missense_Mutation_p.A148S|PMPCB_uc010liw.2_Missense_Mutation_p.A151S|PMPCB_uc011kll.1_Missense_Mutation_p.A137S|PMPCB_uc011klm.1_Missense_Mutation_p.A117S NM_004279 NP_004270 O75439 MPPB_HUMAN mitochondrial processing peptidase beta subunit 242 proteolysis mitochondrial matrix metalloendopeptidase activity|zinc ion binding ovary(4) 4 AATAGTGCTTGCTGCTGCTGG 0.343 12 63 --- --- --- --- PASS SLC26A5 375611 broad.mit.edu 37 7 103014876 103014876 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:103014876G>C uc003vbz.2 - 20 2441 c.2205C>G c.(2203-2205)CCC>CCG p.P735P SLC26A5_uc003vbt.1_Intron|SLC26A5_uc003vbu.1_Intron|SLC26A5_uc003vbv.1_Intron|SLC26A5_uc003vbw.2_RNA|SLC26A5_uc003vbx.2_Silent_p.P703P|SLC26A5_uc003vby.2_RNA|SLC26A5_uc010liy.2_RNA NM_198999 NP_945350 P58743 S26A5_HUMAN prestin isoform a 735 Cytoplasmic (Potential). regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity ovary(1) 1 GAGTGGCATTGGGCTCCAAGT 0.498 5 22 --- --- --- --- PASS TMEM168 64418 broad.mit.edu 37 7 112415234 112415234 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:112415234C>A uc003vgn.2 - 3 1660 c.1268G>T c.(1267-1269)TGC>TTC p.C423F TMEM168_uc010lju.2_Missense_Mutation_p.C423F|TMEM168_uc011kmr.1_Missense_Mutation_p.C39F NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 423 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 ACTGTACCTGCAGAAGTTGGT 0.343 5 26 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113517826 113517826 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:113517826C>A uc010ljy.1 - 4 3352 c.3321G>T c.(3319-3321)TGG>TGT p.W1107C NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 1107 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CCCAGGATAGCCAGGACAATG 0.343 6 54 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120764491 120764491 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:120764491G>T uc003vjq.3 + 8 1472 c.1025G>T c.(1024-1026)AGT>ATT p.S342I C7orf58_uc003vjr.1_Missense_Mutation_p.S342I|C7orf58_uc003vjs.3_Missense_Mutation_p.S342I|C7orf58_uc003vjt.3_Missense_Mutation_p.S122I|C7orf58_uc010lkk.1_Missense_Mutation_p.S122I NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 342 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) GAAGTATTCAGTGAAACATCT 0.338 19 49 --- --- --- --- PASS C7orf58 79974 broad.mit.edu 37 7 120935621 120935621 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:120935621C>G uc003vjq.3 + 23 3443 c.2996C>G c.(2995-2997)TCG>TGG p.S999W NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 999 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AATTTTCGATCGCCATATCAT 0.363 12 44 --- --- --- --- PASS AASS 10157 broad.mit.edu 37 7 121731879 121731879 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:121731879A>G uc003vka.2 - 17 1990 c.1894T>C c.(1894-1896)TAC>CAC p.Y632H AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Missense_Mutation_p.Y632H|AASS_uc011knw.1_Missense_Mutation_p.Y120H NM_005763 NP_005754 Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase precursor 632 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity upper_aerodigestive_tract(1)|ovary(1) 2 L-Glutamic Acid(DB00142)|NADH(DB00157) CCACCACAGTAGGAAATATAT 0.333 3 18 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173172 126173172 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:126173172T>C uc003vlr.2 - 8 2575 c.2264A>G c.(2263-2265)TAC>TGC p.Y755C GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.Y755C|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 755 Helical; Name=5; (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) GAGGATACTGTATCCAAGTGA 0.433 HNSCC(24;0.065) 8 17 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126882901 126882901 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:126882901C>A uc003vlr.2 - 1 669 c.358G>T c.(358-360)GTG>TTG p.V120L GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.V120L|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 120 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) AATGCCTGCACGAATGTTAGA 0.493 HNSCC(24;0.065) 9 33 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128488892 128488892 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:128488892G>T uc003vnz.3 + 28 4992 c.4783G>T c.(4783-4785)GAT>TAT p.D1595Y FLNC_uc003voa.3_Missense_Mutation_p.D1595Y NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1595 Filamin 14. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 GGACAATGGGGATGGCACGTA 0.612 6 35 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137080431 137080431 + Silent SNP T G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:137080431T>G uc003vtt.2 - 33 2995 c.2994A>C c.(2992-2994)GCA>GCC p.A998A DGKI_uc003vtu.2_Silent_p.A667A NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 998 ANK 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 CCTTGTGCAGTGCAGTCTCAC 0.562 3 23 --- --- --- --- PASS TAS2R5 54429 broad.mit.edu 37 7 141491034 141491034 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:141491034G>T uc003vwr.1 + 1 1018 c.873G>T c.(871-873)GTG>GTT p.V291V NM_018980 NP_061853 Q9NYW4 TA2R5_HUMAN taste receptor T2R5 291 Cytoplasmic (Potential). chemosensory behavior|sensory perception of taste taste receptor activity 0 Melanoma(164;0.0171) GGAAGACAGTGTGTGCTCGGA 0.493 12 61 --- --- --- --- PASS TRPV5 56302 broad.mit.edu 37 7 142630466 142630466 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:142630466G>T uc003wby.1 - 1 355 c.91C>A c.(91-93)CAG>AAG p.Q31K TRPV5_uc003wbz.2_Missense_Mutation_p.Q31K NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 31 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) TCCAGGTGCTGGTCCCAGTCT 0.567 7 52 --- --- --- --- PASS TAS2R40 259286 broad.mit.edu 37 7 142919978 142919978 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:142919978C>G uc011ksx.1 + 1 807 c.807C>G c.(805-807)AAC>AAG p.N269K NM_176882 NP_795363 P59535 T2R40_HUMAN taste receptor, type 2, member 40 269 Extracellular (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(1) 1 Melanoma(164;0.059) CCACGTCCAACATCTTTGACA 0.483 10 93 --- --- --- --- PASS TMEM139 135932 broad.mit.edu 37 7 142983078 142983078 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:142983078C>A uc010lov.2 + 3 167 c.28C>A c.(28-30)CTG>ATG p.L10M CASP2_uc003wco.2_5'Flank|CASP2_uc003wcp.2_5'Flank|CASP2_uc011kta.1_5'Flank|TMEM139_uc003wck.3_Missense_Mutation_p.L10M|TMEM139_uc003wcl.2_Missense_Mutation_p.L10M|TMEM139_uc003wcm.2_Missense_Mutation_p.L10M|TMEM139_uc003wcn.2_Intron NM_153345 NP_699176 Q8IV31 TM139_HUMAN transmembrane protein 139 precursor 10 integral to membrane 0 Melanoma(164;0.059) ACTGGGGAGACTGGAGAAGCC 0.547 12 34 --- --- --- --- PASS OR6B1 135946 broad.mit.edu 37 7 143701614 143701614 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:143701614C>A uc003wdt.1 + 1 525 c.525C>A c.(523-525)AAC>AAA p.N175K NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) ATGTCATCAACCACTTCTTCT 0.498 13 39 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147914555 147914555 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:147914555C>T uc003weu.1 + 19 3702 c.3186C>T c.(3184-3186)TGC>TGT p.C1062C NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1062 Laminin G-like 4.|Extracellular (Potential). 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) AGGCGCCCTGCATTCTCCTCT 0.562 HNSCC(39;0.1) 17 66 --- --- --- --- PASS KRBA1 84626 broad.mit.edu 37 7 149419958 149419958 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:149419958C>T uc003wfz.2 + 7 1082 c.683C>T c.(682-684)ACA>ATA p.T228I KRBA1_uc010lpj.2_RNA|KRBA1_uc003wga.2_RNA|KRBA1_uc003wgb.2_5'Flank NM_032534 NP_115923 A5PL33 KRBA1_HUMAN KRAB A domain containing 1 228 ovary(1)|central_nervous_system(1) 2 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CACCCCGAGACATCCCCAAGC 0.622 4 24 --- --- --- --- PASS ABP1 26 broad.mit.edu 37 7 150554679 150554679 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:150554679T>A uc003why.1 + 3 5339 c.1121T>A c.(1120-1122)GTC>GAC p.V374D ABP1_uc003whz.1_Missense_Mutation_p.V374D|ABP1_uc003wia.1_Missense_Mutation_p.V374D NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 374 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) TACCTCGATGTCGGCTGGGGC 0.607 7 55 --- --- --- --- PASS KCNH2 3757 broad.mit.edu 37 7 150645948 150645948 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:150645948C>T uc003wic.2 - 10 2601 c.2588G>A c.(2587-2589)CGA>CAA p.R863Q KCNH2_uc003wib.2_Missense_Mutation_p.R523Q|KCNH2_uc011kux.1_Missense_Mutation_p.R767Q NM_000238 NP_000229 Q12809 KCNH2_HUMAN voltage-gated potassium channel, subfamily H, 863 Cytoplasmic (Potential). blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity skin(3)|ovary(1) 4 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) ACTCACATCTCGCAGGTTGAA 0.458 3 19 --- --- --- --- PASS ACCN3 9311 broad.mit.edu 37 7 150746350 150746350 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr7:150746350G>T uc003win.2 + 1 746 c.378G>T c.(376-378)CTG>CTT p.L126L ACCN3_uc003wio.2_Silent_p.L126L|ACCN3_uc003wip.2_Silent_p.L126L|ACCN3_uc003wiq.2_RNA NM_004769 NP_004760 Q9UHC3 ACCN3_HUMAN amiloride-sensitive cation channel 3 isoform a 126 Extracellular (Potential). sensory perception|signal transduction cytoplasm|integral to plasma membrane ligand-gated sodium channel activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCGCCTTCCTGCGCGCCCTGG 0.692 11 33 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2975995 2975995 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:2975995A>T uc011kwk.1 - 42 6749 c.6359T>A c.(6358-6360)CTA>CAA p.L2120Q CSMD1_uc011kwj.1_Missense_Mutation_p.L1512Q|CSMD1_uc010lrg.2_Missense_Mutation_p.L188Q NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2120 Extracellular (Potential).|Sushi 12. 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) ATGGCCTATTAGAATGTACCC 0.468 17 24 --- --- --- --- PASS BLK 640 broad.mit.edu 37 8 11421500 11421500 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:11421500C>G uc003wty.2 + 13 1982 c.1401C>G c.(1399-1401)GGC>GGG p.G467G BLK_uc003wtz.2_Silent_p.G396G|BLK_uc003wua.2_Silent_p.G303G NM_001715 NP_001706 P51451 BLK_HUMAN B lymphoid tyrosine kinase 467 Protein kinase. intracellular protein kinase cascade|positive regulation of insulin secretion ATP binding|non-membrane spanning protein tyrosine kinase activity large_intestine(1)|stomach(1)|ovary(1) 3 STAD - Stomach adenocarcinoma(15;0.00391) COAD - Colon adenocarcinoma(149;0.207) TGTACCGCGGCGTCATCGCCG 0.711 6 11 --- --- --- --- PASS PCM1 5108 broad.mit.edu 37 8 17838119 17838119 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:17838119G>A uc003wyi.3 + 24 4385 c.3963G>A c.(3961-3963)ATG>ATA p.M1321I PCM1_uc011kyh.1_Missense_Mutation_p.M1321I|PCM1_uc003wyj.3_Intron|PCM1_uc011kyi.1_Intron|PCM1_uc011kyj.1_Missense_Mutation_p.M58I|PCM1_uc003wyk.3_Intron|PCM1_uc011kyk.1_5'Flank NM_006197 NP_006188 Q15154 PCM1_HUMAN pericentriolar material 1 1321 Interaction with HAP1. centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) haematopoietic_and_lymphoid_tissue(30)|breast(4)|ovary(2) 36 Colorectal(111;0.0789) GTGCCAGTATGTCTAGCACAT 0.398 T RET|JAK2 papillary thyroid|CML|MPD 22 46 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52258501 52258501 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:52258501C>A uc003xqu.3 - 20 4009 c.3908G>T c.(3907-3909)AGG>ATG p.R1303M PXDNL_uc003xqt.3_Intron NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1303 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TCCTCTACTCCTACAGTCTGT 0.428 4 40 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52320778 52320778 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:52320778C>T uc003xqu.3 - 17 3507 c.3406G>A c.(3406-3408)GAT>AAT p.D1136N PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1136 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCAGCCGAATCCACGGCCGCA 0.532 19 68 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52321169 52321169 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:52321169C>A uc003xqu.3 - 17 3116 c.3015G>T c.(3013-3015)GTG>GTT p.V1005V PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1005 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCTCCGCGCCCACGATCTTCC 0.627 5 5 --- --- --- --- PASS CPA6 57094 broad.mit.edu 37 8 68334855 68334855 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:68334855G>T uc003xxq.3 - 11 1454 c.1198C>A c.(1198-1200)CGT>AGT p.R400S CPA6_uc003xxr.3_Missense_Mutation_p.R156S NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 400 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) CCAGTGTCACGTAGTTCGAAA 0.383 24 73 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69030786 69030786 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:69030786G>T uc003xxv.1 + 27 3355 c.3328G>T c.(3328-3330)GAC>TAC p.D1110Y NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1110 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 TGTTTTCAGTGACTGCAACAG 0.423 15 41 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 69104759 69104759 + Missense_Mutation SNP C G G rs139672596 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:69104759C>G uc003xxv.1 + 37 4630 c.4603C>G c.(4603-4605)CGG>GGG p.R1535G NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 1535 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CGGTGTGCATCGGTATGTGAC 0.488 7 23 --- --- --- --- PASS TERF1 7013 broad.mit.edu 37 8 73921123 73921123 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:73921123T>C uc003xzd.2 + 1 27 c.2T>C c.(1-3)ATG>ACG p.M1T TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Missense_Mutation_p.M1T NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 1 age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) CCATTTAACATGGCGGAGGAT 0.642 3 4 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77763598 77763598 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:77763598C>A uc003yav.2 + 10 4693 c.4306C>A c.(4306-4308)CAT>AAT p.H1436N ZFHX4_uc003yau.1_Missense_Mutation_p.H1481N|ZFHX4_uc003yaw.1_Missense_Mutation_p.H1436N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1436 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) CCAGGATGACCATGGCCTAGA 0.507 HNSCC(33;0.089) 6 17 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77766706 77766706 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:77766706C>T uc003yav.2 + 10 7801 c.7414C>T c.(7414-7416)CTT>TTT p.L2472F ZFHX4_uc003yau.1_Missense_Mutation_p.L2517F|ZFHX4_uc003yaw.1_Missense_Mutation_p.L2472F NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2472 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) CATGCACTTCCTTGCTGCTCA 0.483 HNSCC(33;0.089) 34 115 --- --- --- --- PASS SLC7A13 157724 broad.mit.edu 37 8 87226774 87226774 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:87226774C>G uc003ydq.1 - 4 1379 c.1281G>C c.(1279-1281)CTG>CTC p.L427L SLC7A13_uc003ydr.1_3'UTR NM_138817 NP_620172 Q8TCU3 S7A13_HUMAN solute carrier family 7, (cationic amino acid 427 Helical; Name=12; (Potential). integral to membrane amino acid transmembrane transporter activity central_nervous_system(1) 1 TGAGAACTAACAGAAGCACGT 0.338 11 37 --- --- --- --- PASS GDF6 392255 broad.mit.edu 37 8 97156891 97156891 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:97156891G>T uc003yhp.2 - 2 1368 c.1268C>A c.(1267-1269)ACC>AAC p.T423N NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor 423 activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) AGTCAATTTGGTGGGCACGCA 0.607 7 19 --- --- --- --- PASS PTDSS1 9791 broad.mit.edu 37 8 97316352 97316352 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:97316352C>T uc003yht.1 + 7 939 c.837C>T c.(835-837)GAC>GAT p.D279D PTDSS1_uc003yhu.1_Silent_p.D133D NM_014754 NP_055569 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 279 phosphatidylserine biosynthetic process integral to membrane transferase activity ovary(1) 1 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GATGGTTTGACCCCAAATCTT 0.448 30 156 --- --- --- --- PASS UBR5 51366 broad.mit.edu 37 8 103306322 103306322 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:103306322T>A uc003ykr.1 - 33 4243 c.4210A>T c.(4210-4212)ACA>TCA p.T1404S UBR5_uc003yks.1_Missense_Mutation_p.T1404S NM_015902 NP_056986 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 1404 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding lung(16)|ovary(4)|large_intestine(3)|breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1) 28 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TTCACTAGTGTACCTAGTAGA 0.313 6 41 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 104987671 104987671 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:104987671C>A uc003yls.2 + 14 2439 c.2198C>A c.(2197-2199)CCT>CAT p.P733H RIMS2_uc003ylp.2_Missense_Mutation_p.P955H|RIMS2_uc003ylw.2_Missense_Mutation_p.P747H|RIMS2_uc003ylq.2_Missense_Mutation_p.P747H|RIMS2_uc003ylr.2_Missense_Mutation_p.P794H|RIMS2_uc003ylt.2_Missense_Mutation_p.P340H NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1017 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) TCAGGGTCTCCTCATCGAGTA 0.423 HNSCC(12;0.0054) 12 35 --- --- --- --- PASS DPYS 1807 broad.mit.edu 37 8 105405189 105405189 + Silent SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:105405189A>C uc003yly.3 - 8 1395 c.1266T>G c.(1264-1266)GCT>GCG p.A422A DPYS_uc010mcf.1_5'UTR NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 422 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) TGAAGTTAACAGCCTGATGAT 0.393 14 71 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113301596 113301596 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:113301596G>A uc003ynu.2 - 57 9305 c.9146C>T c.(9145-9147)TCA>TTA p.S3049L CSMD3_uc003yns.2_Missense_Mutation_p.S2251L|CSMD3_uc003ynt.2_Missense_Mutation_p.S3009L|CSMD3_uc011lhx.1_Missense_Mutation_p.S2880L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3049 Sushi 21.|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 AGTGGTACCTGAACAATGAGG 0.383 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 32 87 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113697736 113697736 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:113697736G>T uc003ynu.2 - 15 2540 c.2381C>A c.(2380-2382)GCT>GAT p.A794D CSMD3_uc003yns.2_Missense_Mutation_p.A66D|CSMD3_uc003ynt.2_Missense_Mutation_p.A754D|CSMD3_uc011lhx.1_Missense_Mutation_p.A690D NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 794 Extracellular (Potential).|CUB 4. 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 AGGCACCTCAGCCCCAGTAAA 0.438 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 14 69 --- --- --- --- PASS EXT1 2131 broad.mit.edu 37 8 118812099 118812099 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:118812099A>G uc003yok.1 - 11 2866 c.2093T>C c.(2092-2094)TTT>TCT p.F698S NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 698 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral 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|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TCGCTGGGCAAAGTGGTCAGG 0.522 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 13 28 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133153497 133153497 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:133153497C>A uc003ytj.2 - 10 1569 c.1344G>T c.(1342-1344)CTG>CTT p.L448L KCNQ3_uc010mdt.2_Silent_p.L448L NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 448 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) CATCTACATTCAGAGGGGTAA 0.443 29 92 --- --- --- --- PASS LRRC6 23639 broad.mit.edu 37 8 133645013 133645013 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:133645013C>T uc003ytk.2 - 5 700 c.626G>A c.(625-627)CGT>CAT p.R209H LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 209 cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TGTGTACCAACGTCCATCAAA 0.378 27 210 --- --- --- --- PASS TG 7038 broad.mit.edu 37 8 133961149 133961149 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:133961149C>A uc003ytw.2 + 27 5403 c.5362C>A c.(5362-5364)CAG>AAG p.Q1788K TG_uc010mdw.2_Missense_Mutation_p.Q547K|TG_uc011ljb.1_Missense_Mutation_p.Q157K NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1788 Type IIIB. 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) GGAGAGCCACCAGGTGATATT 0.473 28 103 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139151241 139151241 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:139151241T>A uc003yuy.2 - 18 4060 c.3889A>T c.(3889-3891)AGC>TGC p.S1297C FAM135B_uc003yux.2_Missense_Mutation_p.S1198C|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1297 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) GTTTTTTGGCTTAGTTGGTAG 0.443 HNSCC(54;0.14) 9 49 --- --- --- --- PASS TSNARE1 203062 broad.mit.edu 37 8 143425749 143425749 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:143425749C>A uc003ywk.2 - 4 441 c.323G>T c.(322-324)GGG>GTG p.G108V TSNARE1_uc011lju.1_Missense_Mutation_p.G108V|TSNARE1_uc003ywj.2_Missense_Mutation_p.G108V|TSNARE1_uc003ywl.3_Intron NM_145003 NP_659440 Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 108 vesicle-mediated transport integral to membrane 0 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCCATGGGGCCCAGCAGCCGA 0.672 4 3 --- --- --- --- PASS FAM83H 286077 broad.mit.edu 37 8 144809011 144809011 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:144809011C>A uc003yzk.2 - 5 2689 c.2620G>T c.(2620-2622)GCT>TCT p.A874S FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 874 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) TCAGGGTAAGCCGAGGTGGGG 0.622 8 24 --- --- --- --- PASS KIFC2 90990 broad.mit.edu 37 8 145697789 145697789 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:145697789G>T uc003zcz.2 + 15 1718 c.1653G>T c.(1651-1653)CAG>CAT p.Q551H KIFC2_uc003zda.2_5'Flank NM_145754 NP_665697 Q96AC6 KIFC2_HUMAN kinesin family member C2 551 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding ovary(2)|central_nervous_system(1) 3 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) CCGTGAGGCAGGGCCCAGAAG 0.652 12 17 --- --- --- --- PASS FREM1 158326 broad.mit.edu 37 9 14759788 14759788 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:14759788C>A uc003zlm.2 - 28 5906 c.5316G>T c.(5314-5316)TCG>TCT p.S1772S FREM1_uc010mic.2_Intron|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Silent_p.S308S NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1772 Calx-beta. 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) CCACAAAGGCCGAGTCCATGG 0.353 21 47 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32630258 32630258 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:32630258C>A uc003zrg.1 - 1 5410 c.5320G>T c.(5320-5322)GAA>TAA p.E1774* NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1774 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) CCAGCATCTTCCTCATCATCT 0.453 22 63 --- --- --- --- PASS C9orf24 84688 broad.mit.edu 37 9 34382827 34382827 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:34382827G>T uc003zuh.1 - 3 539 c.321C>A c.(319-321)TAC>TAA p.Y107* C9orf24_uc003zug.1_5'Flank|C9orf24_uc003zuf.1_5'Flank|C9orf24_uc003zui.1_5'Flank NM_032596 NP_115985 Q8NCR6 CI024_HUMAN testes development-related NYD-SP22 isoform 1 107 ovary(1) 1 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.123) TCCATGTGTTGTACCAGTCAC 0.493 40 62 --- --- --- --- PASS PCSK5 5125 broad.mit.edu 37 9 78804654 78804654 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:78804654G>T uc004ajz.2 + 20 3156 c.2618G>T c.(2617-2619)TGC>TTC p.C873F PCSK5_uc004aka.2_RNA|PCSK5_uc004akb.2_Missense_Mutation_p.C147F NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 873 PLAC. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 GGAGCCATTTGCAAGGATGGT 0.403 9 17 --- --- --- --- PASS GNAQ 2776 broad.mit.edu 37 9 80537167 80537167 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:80537167C>T uc004akw.2 - 2 272 c.231G>A c.(229-231)AAG>AAA p.K77K NM_002072 NP_002063 P50148 GNAQ_HUMAN guanine nucleotide binding protein (G protein), 77 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 GATACACCAGCTTGGTGAAGC 0.473 Mis uveal melanoma 38 81 --- --- --- --- PASS C9orf79 286234 broad.mit.edu 37 9 90503468 90503468 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:90503468C>A uc004app.3 + 4 4101 c.4066C>A c.(4066-4068)CCT>ACT p.P1356T NM_178828 NP_849150 Q6ZUB1 CI079_HUMAN chromosome 9 open reading frame 79 1356 integral to membrane ovary(3) 3 GGAGAATGTGCCTTCCTGCTG 0.602 5 27 --- --- --- --- PASS LOC286238 286238 broad.mit.edu 37 9 91262379 91262379 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:91262379C>A uc010mql.1 - 2 397 c.264G>T c.(262-264)ATG>ATT p.M88I NM_001100111 NP_001093581 hypothetical protein LOC286238 0 CACAGGGAAGCATGTCCCGTG 0.433 18 61 --- --- --- --- PASS GABBR2 9568 broad.mit.edu 37 9 101065634 101065634 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:101065634C>A uc004ays.2 - 16 2457 c.2301G>T c.(2299-2301)AAG>AAT p.K767N NM_005458 NP_005449 O75899 GABR2_HUMAN G protein-coupled receptor 51 precursor 767 Cytoplasmic (Potential). negative regulation of adenylate cyclase activity|synaptic transmission cell junction|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(2)|skin(2) 4 Acute lymphoblastic leukemia(62;0.0527) Baclofen(DB00181) AATCTTCTTTCTTCTGATTCT 0.527 17 33 --- --- --- --- PASS EPB41L4B 54566 broad.mit.edu 37 9 112030678 112030678 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:112030678C>T uc004bdz.1 - 3 742 c.447G>A c.(445-447)CAG>CAA p.Q149Q EPB41L4B_uc004bea.2_Silent_p.Q149Q NM_019114 NP_061987 Q9H329 E41LB_HUMAN erythrocyte membrane protein band 4.1 like 4B 149 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|skin(1) 3 TACTTTTCATCTGCTTTTTTA 0.353 4 26 --- --- --- --- PASS SVEP1 79987 broad.mit.edu 37 9 113251936 113251936 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:113251936C>G uc010mtz.2 - 9 2261 c.1924G>C c.(1924-1926)GTT>CTT p.V642L SVEP1_uc010mua.1_Missense_Mutation_p.V642L|SVEP1_uc004beu.2_Missense_Mutation_p.V642L NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 642 HYR 1. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 TTACCAATAACCTTGATATGG 0.259 4 25 --- --- --- --- PASS COL27A1 85301 broad.mit.edu 37 9 117020846 117020846 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:117020846C>A uc011lxl.1 + 28 3167 c.3167C>A c.(3166-3168)CCA>CAA p.P1056Q COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 1056 Pro-rich.|Collagen-like 7.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CGAGGCCCACCAGGCATGAGG 0.627 6 17 --- --- --- --- PASS OR5C1 392391 broad.mit.edu 37 9 125551984 125551984 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:125551984C>A uc011lzd.1 + 1 773 c.773C>A c.(772-774)ACA>AAA p.T258K NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN olfactory receptor, family 5, subfamily C, 258 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 ATGTACGGGACACTCATTTTC 0.602 11 48 --- --- --- --- PASS PBX3 5090 broad.mit.edu 37 9 128510846 128510846 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:128510846G>T uc004bqb.2 + 2 334 c.218G>T c.(217-219)TGT>TTT p.C73F PBX3_uc004bqc.2_5'UTR|PBX3_uc004bqd.2_5'UTR|PBX3_uc011lzw.1_5'UTR NM_006195 NP_006186 P40426 PBX3_HUMAN pre-B-cell leukemia homeobox 3 isoform 1 73 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1) 1 GCCCTGAACTGTCACAGAATG 0.478 20 102 --- --- --- --- PASS LRSAM1 90678 broad.mit.edu 37 9 130217333 130217333 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:130217333G>T uc004brb.1 + 4 474 c.129G>T c.(127-129)GAG>GAT p.E43D LRSAM1_uc010mxk.1_Missense_Mutation_p.E43D|LRSAM1_uc004brc.1_Missense_Mutation_p.E43D|LRSAM1_uc004brd.1_Missense_Mutation_p.E43D NM_001005373 NP_001005373 Q6UWE0 LRSM1_HUMAN leucine rich repeat and sterile alpha motif 43 LRR 1. negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis cytoplasm|extracellular region|membrane part hormone activity|ubiquitin-protein ligase activity|zinc ion binding 0 AGCTCTCAGAGGTAAACTGAG 0.423 4 128 --- --- --- --- PASS LAMC3 10319 broad.mit.edu 37 9 133962940 133962940 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:133962940G>T uc004caa.1 + 26 4406 c.4308G>T c.(4306-4308)ACG>ACT p.T1436T LAMC3_uc010mze.1_Silent_p.T124T NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 1436 Domain II and I.|Potential. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CGCAAGCCACGCTCCAACAGG 0.657 8 65 --- --- --- --- PASS NUP214 8021 broad.mit.edu 37 9 134015981 134015981 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:134015981C>T uc004cag.2 + 11 1289 c.1178C>T c.(1177-1179)TCA>TTA p.S393L NUP214_uc004cah.2_Missense_Mutation_p.S393L|NUP214_uc004caf.1_Missense_Mutation_p.S393L NM_005085 NP_005076 P35658 NU214_HUMAN nucleoporin 214kDa 393 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding breast(7)|lung(3)|skin(3)|ovary(2)|central_nervous_system(1) 16 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) ATGTTACTTTCAACAGATGGT 0.378 T DEK|SET|ABL1 AML|T-ALL 6 104 --- --- --- --- PASS C9orf171 389799 broad.mit.edu 37 9 135447886 135447886 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:135447886A>G uc004cbn.2 + 7 1000 c.952A>G c.(952-954)ACC>GCC p.T318A C9orf171_uc004cbo.2_Missense_Mutation_p.T282A NM_207417 NP_997300 Q6ZQR2 CI171_HUMAN hypothetical protein LOC389799 318 ovary(4)|large_intestine(1) 5 GGGCAACTACACCCACCCCTA 0.597 5 7 --- --- --- --- PASS SDCCAG3 10807 broad.mit.edu 37 9 139301958 139301958 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:139301958C>A uc004chi.2 - 5 663 c.458G>T c.(457-459)GGC>GTC p.G153V SDCCAG3_uc004chj.2_Missense_Mutation_p.G130V|SDCCAG3_uc004chk.2_Missense_Mutation_p.G80V NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 153 cytoplasm 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) GCCATACCCGCCGGTTTGGGA 0.532 3 13 --- --- --- --- PASS LCN8 138307 broad.mit.edu 37 9 139649901 139649901 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:139649901C>T uc004cjb.1 - 4 643 c.294G>A c.(292-294)ATG>ATA p.M98I LCN8_uc004cja.2_RNA NM_178469 NP_848564 Q6JVE9 LCN8_HUMAN lipocalin 8 121 transport extracellular region binding pancreas(1) 1 all_cancers(76;0.0882)|all_epithelial(76;0.228) Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05) TGCCCCGCCACATCAGGGACA 0.652 3 12 --- --- --- --- PASS EHMT1 79813 broad.mit.edu 37 9 140611315 140611315 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr9:140611315A>T uc011mfc.1 + 3 360 c.323A>T c.(322-324)CAC>CTC p.H108L EHMT1_uc004coa.2_Missense_Mutation_p.H108L|EHMT1_uc004cob.1_Missense_Mutation_p.H77L NM_024757 NP_079033 Q9H9B1 EHMT1_HUMAN euchromatic histone-lysine N-methyltransferase 1 108 DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding breast(2)|pancreas(1) 3 all_cancers(76;0.164) OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728) AAGCAAAACCACGTCACTGCC 0.542 12 63 --- --- --- --- PASS MLLT10 8028 broad.mit.edu 37 10 21903765 21903765 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:21903765A>T uc001iqs.2 + 7 863 c.515A>T c.(514-516)CAG>CTG p.Q172L MLLT10_uc001iqt.2_Missense_Mutation_p.Q172L|MLLT10_uc001iqv.2_RNA|MLLT10_uc001iqy.2_Missense_Mutation_p.Q172L|MLLT10_uc001ira.2_5'Flank|MLLT10_uc001iqz.2_5'UTR NM_004641 NP_004632 P55197 AF10_HUMAN myeloid/lymphoid or mixed-lineage leukemia 172 Interaction with FSTL3.|Self-association.|PHD-type 2. positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(1)|skin(1) 2 TTCAGCGCTCAGTTTGCCGGA 0.338 T MLL|PICALM|CDK6 AL 21 53 --- --- --- --- PASS MYO3A 53904 broad.mit.edu 37 10 26463077 26463077 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:26463077A>G uc001isn.2 + 30 4244 c.3884A>G c.(3883-3885)TAT>TGT p.Y1295C MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 1295 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 AGGTCAATTTATCAAAATGCA 0.448 19 53 --- --- --- --- PASS ARMC4 55130 broad.mit.edu 37 10 28224093 28224093 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:28224093C>T uc009xky.2 - 16 2439 c.2341G>A c.(2341-2343)GGA>AGA p.G781R ARMC4_uc010qds.1_Missense_Mutation_p.G306R|ARMC4_uc010qdt.1_Missense_Mutation_p.G473R|ARMC4_uc001itz.2_Missense_Mutation_p.G781R NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 781 ARM 5. binding ovary(4)|skin(2) 6 CAGCATTCTCCCAAGGCCCCA 0.458 28 61 --- --- --- --- PASS ZNF438 220929 broad.mit.edu 37 10 31138162 31138162 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:31138162T>C uc010qdz.1 - 7 1607 c.1172A>G c.(1171-1173)GAT>GGT p.D391G ZNF438_uc001ivn.2_Missense_Mutation_p.D342G|ZNF438_uc010qdy.1_Missense_Mutation_p.D381G|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.D391G|ZNF438_uc001ivp.3_Missense_Mutation_p.D381G|ZNF438_uc010qea.1_Missense_Mutation_p.D391G|ZNF438_uc010qeb.1_Missense_Mutation_p.D391G|ZNF438_uc010qec.1_5'UTR NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) CAAAATTTCATCTGGTACCTT 0.373 29 101 --- --- --- --- PASS ZNF33A 7581 broad.mit.edu 37 10 38305892 38305892 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:38305892G>A uc001izh.2 + 3 281 c.103G>A c.(103-105)GCT>ACT p.A35T ZNF33A_uc001izg.2_Missense_Mutation_p.A35T|ZNF33A_uc010qev.1_Missense_Mutation_p.A42T|ZNF33A_uc001izi.1_Missense_Mutation_p.A35T|ZNF33A_uc001izj.2_RNA NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 35 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 TAGTCAGAGGGCTCTGTATAG 0.453 23 52 --- --- --- --- PASS MBL2 4153 broad.mit.edu 37 10 54529061 54529061 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:54529061G>T uc001jjt.2 - 3 384 c.319C>A c.(319-321)CTG>ATG p.L107M NM_000242 NP_000233 P11226 MBL2_HUMAN soluble mannose-binding lectin precursor 107 acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress collagen|extracellular space bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding ovary(1) 1 GAGGCAGCCAGGCTACTATCA 0.403 15 85 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55582009 55582009 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:55582009G>A uc001jju.1 - 33 5872 c.5477C>T c.(5476-5478)CCT>CTT p.P1826L PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qhs.1_Intron|PCDH15_uc010qht.1_Intron|PCDH15_uc010qhu.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1823L|PCDH15_uc010qhw.1_Missense_Mutation_p.P1786L|PCDH15_uc010qhx.1_Missense_Mutation_p.P1757L|PCDH15_uc010qhy.1_Missense_Mutation_p.P1833L|PCDH15_uc010qhz.1_Missense_Mutation_p.P1828L|PCDH15_uc010qia.1_Missense_Mutation_p.P1806L|PCDH15_uc010qib.1_Missense_Mutation_p.P1803L NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1826 Poly-Pro.|Cytoplasmic (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) tggagggcaaggaatagaagg 0.269 HNSCC(58;0.16) 10 50 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55892716 55892716 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:55892716G>T uc001jju.1 - 15 2231 c.1836C>A c.(1834-1836)AGC>AGA p.S612R PCDH15_uc010qhq.1_Missense_Mutation_p.S617R|PCDH15_uc010qhr.1_Missense_Mutation_p.S612R|PCDH15_uc010qhs.1_Missense_Mutation_p.S624R|PCDH15_uc010qht.1_Missense_Mutation_p.S619R|PCDH15_uc010qhu.1_Missense_Mutation_p.S612R|PCDH15_uc001jjv.1_Missense_Mutation_p.S590R|PCDH15_uc010qhv.1_Missense_Mutation_p.S612R|PCDH15_uc010qhw.1_Missense_Mutation_p.S575R|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhy.1_Missense_Mutation_p.S617R|PCDH15_uc010qhz.1_Missense_Mutation_p.S612R|PCDH15_uc010qia.1_Missense_Mutation_p.S590R|PCDH15_uc010qib.1_Missense_Mutation_p.S590R|PCDH15_uc001jjw.2_Missense_Mutation_p.S612R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 612 Cadherin 5.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AGCGAGGAGGGCTTTGATTAT 0.408 HNSCC(58;0.16) 9 33 --- --- --- --- PASS FAM13C 220965 broad.mit.edu 37 10 61029743 61029743 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:61029743C>T uc001jkn.2 - 8 853 c.719G>A c.(718-720)CGA>CAA p.R240Q FAM13C_uc001jko.2_Missense_Mutation_p.R240Q|FAM13C_uc010qid.1_Missense_Mutation_p.R157Q|FAM13C_uc010qie.1_Missense_Mutation_p.R157Q|FAM13C_uc010qif.1_Missense_Mutation_p.R262Q|FAM13C_uc001jkp.2_Missense_Mutation_p.R157Q NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 240 ovary(2) 2 GATGGAGCATCGTGGCGACAG 0.527 10 35 --- --- --- --- PASS PPP3CB 5532 broad.mit.edu 37 10 75239135 75239135 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:75239135C>G uc001jue.2 - 2 361 c.226G>C c.(226-228)GAG>CAG p.E76Q PPP3CB_uc001juf.2_Missense_Mutation_p.E76Q|PPP3CB_uc001jug.2_Missense_Mutation_p.E76Q|PPP3CB_uc001jui.2_Missense_Mutation_p.E76Q|PPP3CB_uc001juh.2_5'UTR NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 76 Catalytic. skin(1) 1 Prostate(51;0.0119) GCAGCACCCTCATTGATAATT 0.393 38 129 --- --- --- --- PASS DLG5 9231 broad.mit.edu 37 10 79613209 79613209 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:79613209C>A uc001jzk.2 - 5 837 c.767G>T c.(766-768)CGG>CTG p.R256L DLG5_uc001jzj.2_Missense_Mutation_p.R11L|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 256 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) GTTTCGCTCCCGCAGCAGCTG 0.622 6 7 --- --- --- --- PASS TSPAN14 81619 broad.mit.edu 37 10 82271915 82271915 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:82271915G>T uc001kcj.3 + 6 573 c.466G>T c.(466-468)GCA>TCA p.A156S TSPAN14_uc009xss.2_Missense_Mutation_p.A33S|TSPAN14_uc001kci.3_Missense_Mutation_p.A139S NM_030927 NP_112189 Q8NG11 TSN14_HUMAN tetraspanin 14 isoform 1 156 integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(32;0.229) GTGCTGTGGCGCATATGGCCC 0.577 5 44 --- --- --- --- PASS OBFC1 79991 broad.mit.edu 37 10 105657461 105657461 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:105657461C>A uc001kxl.2 - 6 673 c.598G>T c.(598-600)GAC>TAC p.D200Y OBFC1_uc001kxm.2_Missense_Mutation_p.D200Y|OBFC1_uc001kxn.2_RNA NM_024928 NP_079204 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold 200 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding ovary(1) 1 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) CTGGGGAGGTCCAGGGCGCCT 0.463 6 51 --- --- --- --- PASS NRAP 4892 broad.mit.edu 37 10 115365538 115365538 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:115365538C>A uc001laj.2 - 34 4062 c.3898G>T c.(3898-3900)GGA>TGA p.G1300* NRAP_uc009xyb.2_Intron|NRAP_uc001lak.2_Nonsense_Mutation_p.G1265*|NRAP_uc001lal.3_Nonsense_Mutation_p.G1300* NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1300 Nebulin 34. fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GCTATATCTCCAGAGGCCCGG 0.463 61 226 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118321144 118321144 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:118321144A>G uc001lcm.2 + 12 1373 c.1330A>G c.(1330-1332)AAA>GAA p.K444E NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 444 PLAT. lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) AAATGTTGGAAAACAGTAAGT 0.363 14 36 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124339201 124339201 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:124339201T>C uc001lgk.1 + 10 893 c.787T>C c.(787-789)TGG>CGG p.W263R DMBT1_uc001lgl.1_Missense_Mutation_p.W263R|DMBT1_uc001lgm.1_Missense_Mutation_p.W263R|DMBT1_uc009xzz.1_Missense_Mutation_p.W263R|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.W115R NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 263 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGATGACTACTGGGACACCAA 0.612 41 155 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124339203 124339203 + Nonsense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:124339203G>A uc001lgk.1 + 10 895 c.789G>A c.(787-789)TGG>TGA p.W263* DMBT1_uc001lgl.1_Nonsense_Mutation_p.W263*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.W263*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.W263*|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Nonsense_Mutation_p.W115* NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 263 SRCR 2. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) ATGACTACTGGGACACCAATG 0.617 42 157 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124353098 124353098 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr10:124353098G>A uc001lgk.1 + 21 2620 c.2514G>A c.(2512-2514)CGG>CGA p.R838R DMBT1_uc001lgl.1_Silent_p.R828R|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Silent_p.R838R|DMBT1_uc010qtx.1_Intron NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 838 epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) CCCAGTCCCGGCCGACACCCA 0.517 37 152 --- --- --- --- PASS TNNI2 7136 broad.mit.edu 37 11 1861789 1861789 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:1861789T>A uc010qxe.1 + 3 111 c.89T>A c.(88-90)CTG>CAG p.L30Q TNNI2_uc010qxc.1_Missense_Mutation_p.L28Q|TNNI2_uc010qxd.1_Missense_Mutation_p.L28Q NM_001145841 NP_001139313 P48788 TNNI2_HUMAN fast-twitch skeletal muscle troponin I isoform 30 Involved in binding TNC. muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding 0 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCACGGAGCTGGAGAAGGAG 0.677 8 17 --- --- --- --- PASS NAP1L4 4676 broad.mit.edu 37 11 2981043 2981043 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:2981043C>A uc001lxc.2 - 9 844 c.703G>T c.(703-705)GAT>TAT p.D235Y NAP1L4_uc009ydt.2_RNA|NAP1L4_uc010qxm.1_Missense_Mutation_p.D235Y|NAP1L4_uc010qxn.1_Missense_Mutation_p.D235Y NM_005969 NP_005960 Q99733 NP1L4_HUMAN nucleosome assembly protein 1-like 4 235 nucleosome assembly chromatin assembly complex|cytoplasm unfolded protein binding ovary(1) 1 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211) GAAAAGGGATCAGCCTTATCT 0.373 4 27 --- --- --- --- PASS OR52K2 119774 broad.mit.edu 37 11 4470671 4470671 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:4470671C>T uc001lyz.1 + 1 102 c.102C>T c.(100-102)TGC>TGT p.C34C NM_001005172 NP_001005172 Q8NGK3 O52K2_HUMAN olfactory receptor, family 52, subfamily K, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCCTTTCTGCTTAGCATATA 0.512 30 74 --- --- --- --- PASS OR51G1 79324 broad.mit.edu 37 11 4945209 4945209 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:4945209A>T uc010qyr.1 - 1 361 c.361T>A c.(361-363)TCC>ACC p.S121T NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 121 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CGGTCAATGGACATGGATAAC 0.502 4 32 --- --- --- --- PASS OR51B6 390058 broad.mit.edu 37 11 5373146 5373146 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:5373146A>T uc010qzb.1 + 1 409 c.409A>T c.(409-411)ACC>TCC p.T137S HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 137 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCTGACCAACACCCAGGTAAT 0.478 7 65 --- --- --- --- PASS TRIM6-TRIM34 445372 broad.mit.edu 37 11 5626790 5626790 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:5626790T>A uc001mbf.2 + 4 1071 c.827T>A c.(826-828)CTG>CAG p.L276Q HBG2_uc001mak.1_Intron|TRIM6_uc009yeo.1_Missense_Mutation_p.L222Q|TRIM6_uc010qzj.1_Missense_Mutation_p.L73Q|TRIM6_uc001mbc.1_Missense_Mutation_p.L248Q|TRIM6_uc001mbe.2_Missense_Mutation_p.L73Q|TRIM6_uc010qzk.1_Missense_Mutation_p.L73Q|TRIM6_uc010qzl.1_Missense_Mutation_p.L73Q|TRIM6_uc001mbd.2_Missense_Mutation_p.L276Q|TRIM6_uc001mbg.1_Missense_Mutation_p.L73Q|TRIM6_uc009yep.1_Missense_Mutation_p.L73Q NM_001003819 NP_001003819 B2RNG4 B2RNG4_HUMAN tripartite motif-containing 6 and tripartite 276 intracellular zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) ACAATGGAGCTGCTGCAGGTA 0.507 OREG0003723 type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 3 19 --- --- --- --- PASS OR52N5 390075 broad.mit.edu 37 11 5799597 5799597 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:5799597C>A uc010qzn.1 - 1 268 c.268G>T c.(268-270)GCA>TCA p.A90S TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001922 NP_001001922 Q8NH56 O52N5_HUMAN olfactory receptor, family 52, subfamily N, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) ATGCAGAGTGCATTGGGTAGA 0.448 10 44 --- --- --- --- PASS OR52E6 390078 broad.mit.edu 37 11 5862836 5862836 + Missense_Mutation SNP C A A rs145073549 by1000genomes TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:5862836C>A uc010qzq.1 - 1 292 c.292G>T c.(292-294)GGC>TGC p.G98C TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAAAGGTAGCCTCCAAAAGAT 0.468 30 82 --- --- --- --- PASS OR52E8 390079 broad.mit.edu 37 11 5878459 5878459 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:5878459G>T uc010qzr.1 - 1 474 c.474C>A c.(472-474)AGC>AGA p.S158R TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 158 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATGTACAGGCTCCTCAGGA 0.507 46 87 --- --- --- --- PASS OR6A2 8590 broad.mit.edu 37 11 6816427 6816427 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:6816427G>T uc001mes.1 - 1 713 c.513C>A c.(511-513)CTC>CTA p.L171L NM_003696 NP_003687 O95222 OR6A2_HUMAN olfactory receptor, family 6, subfamily A, 171 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACAGTAAGAGAGGCCAGAAA 0.488 7 52 --- --- --- --- PASS OR2D2 120776 broad.mit.edu 37 11 6913409 6913409 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:6913409C>A uc010rau.1 - 1 323 c.323G>T c.(322-324)GGG>GTG p.G108V NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTGGGTACACCCAAAAATGAG 0.473 17 38 --- --- --- --- PASS NLRP10 338322 broad.mit.edu 37 11 7981912 7981912 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:7981912A>G uc001mfv.1 - 2 1264 c.1247T>C c.(1246-1248)CTA>CCA p.L416P NM_176821 NP_789791 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 416 NACHT. ATP binding lung(4)|ovary(2)|pancreas(1)|kidney(1)|skin(1) 9 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTCAGCTGCTAGGGAGCACAG 0.547 10 56 --- --- --- --- PASS GALNTL4 374378 broad.mit.edu 37 11 11348656 11348656 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:11348656T>C uc001mjo.2 - 9 1910 c.1489A>G c.(1489-1491)ATC>GTC p.I497V NM_198516 NP_940918 Q6P9A2 GLTL4_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 497 Lumenal (Potential).|Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all cancers(16;3.67e-05)|Epithelial(150;0.000184) CCATGGCAGATGTACATGATG 0.517 5 38 --- --- --- --- PASS COPB1 1315 broad.mit.edu 37 11 14480146 14480146 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:14480146C>A uc001mli.2 - 21 3041 c.2734G>T c.(2734-2736)GAG>TAG p.E912* COPB1_uc001mlg.2_Nonsense_Mutation_p.E912*|COPB1_uc001mlh.2_Nonsense_Mutation_p.E912* NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 912 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 ATTGGCTTCTCAATGCTGACA 0.433 9 61 --- --- --- --- PASS SOX6 55553 broad.mit.edu 37 11 16036565 16036565 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:16036565T>A uc001mme.2 - 13 1727 c.1694A>T c.(1693-1695)CAG>CTG p.Q565L SOX6_uc001mmd.2_Missense_Mutation_p.Q528L|SOX6_uc001mmf.2_Missense_Mutation_p.Q525L|SOX6_uc001mmg.2_Missense_Mutation_p.Q552L NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 552 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TCCCGTTAACTGGGGCCCCAA 0.458 4 57 --- --- --- --- PASS IGSF22 283284 broad.mit.edu 37 11 18731979 18731979 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:18731979G>A uc009yht.2 - 17 2786 c.2596C>T c.(2596-2598)CTC>TTC p.L866F IGSF22_uc001mpa.2_RNA NM_173588 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 864 Fibronectin type-III 2. ovary(4)|large_intestine(2)|kidney(1) 7 TCCTCCAGGAGACCATCCACA 0.532 7 35 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20660004 20660004 + Splice_Site SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:20660004G>C uc001mqd.2 + 13 2143 c.1870_splice c.e13-1 p.G624_splice SLC6A5_uc009yic.2_Splice_Site_p.G389_splice NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TCTCCTGTTAGGGTGGAATTT 0.458 15 106 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30034104 30034104 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:30034104G>T uc001msk.2 - 2 1274 c.122C>A c.(121-123)GCA>GAA p.A41E NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 41 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AACAGCAGCTGCTGCAGCTGC 0.667 11 52 --- --- --- --- PASS API5 8539 broad.mit.edu 37 11 43348117 43348117 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:43348117G>C uc010rfh.1 + 7 984 c.811G>C c.(811-813)GGT>CGT p.G271R API5_uc010rfg.1_Missense_Mutation_p.G260R|API5_uc001mxf.2_Missense_Mutation_p.G271R|API5_uc010rfi.1_Missense_Mutation_p.G217R|API5_uc001mxg.2_Missense_Mutation_p.G145R NM_001142930 NP_001136402 Q9BZZ5 API5_HUMAN apoptosis inhibitor 5 isoform a 271 anti-apoptosis|apoptosis cytoplasm|spliceosomal complex fibroblast growth factor binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 CCCTAACCTCGGTACCTTGAC 0.368 14 103 --- --- --- --- PASS EXT2 2132 broad.mit.edu 37 11 44146495 44146495 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:44146495C>T uc001mxz.2 + 5 1234 c.900C>T c.(898-900)TGC>TGT p.C300C EXT2_uc010rfo.1_Silent_p.C328C|EXT2_uc001mxy.2_Silent_p.C313C|EXT2_uc009ykt.2_Silent_p.C300C|EXT2_uc001mya.2_Silent_p.C333C NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 300 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 GTAAGCGCTGCCACAAGCACC 0.493 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 15 63 --- --- --- --- PASS CHST1 8534 broad.mit.edu 37 11 45671602 45671602 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:45671602G>T uc001mys.1 - 4 1543 c.872C>A c.(871-873)CCG>CAG p.P291Q NM_003654 NP_003645 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) 291 Lumenal (Potential). galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity skin(4)|pancreas(1) 5 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) CTTGAGCCACGGGGGCCGCAT 0.622 30 51 --- --- --- --- PASS MDK 4192 broad.mit.edu 37 11 46404190 46404190 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:46404190A>C uc001nco.2 + 4 520 c.298A>C c.(298-300)ACC>CCC p.T100P MDK_uc009ykz.1_Missense_Mutation_p.T100P|MDK_uc001ncp.2_Missense_Mutation_p.T100P|MDK_uc009yla.2_Missense_Mutation_p.T44P|MDK_uc009ylb.2_Intron|MDK_uc001ncq.2_Missense_Mutation_p.T100P|MDK_uc001ncr.2_RNA|MDK_uc001ncs.2_Missense_Mutation_p.T100P NM_001012334 NP_001012334 P21741 MK_HUMAN midkine 100 adrenal gland development|cell differentiation|nervous system development|positive regulation of cell division|response to wounding|signal transduction extracellular region growth factor activity|heparin binding 0 GBM - Glioblastoma multiforme(35;0.0252)|Lung(87;0.14) GGGCACAGGCACCAAAGTCCG 0.557 3 23 --- --- --- --- PASS LRP4 4038 broad.mit.edu 37 11 46908042 46908042 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:46908042C>A uc001ndn.3 - 17 2404 c.2258G>T c.(2257-2259)CGT>CTT p.R753L NM_002334 NP_002325 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 753 Extracellular (Potential). endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity skin(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Lung(87;0.159) GCTGATTCGACGGATGTCCAT 0.522 14 33 --- --- --- --- PASS MYBPC3 4607 broad.mit.edu 37 11 47355296 47355296 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:47355296G>A uc001nfa.3 - 28 3057 c.3002C>T c.(3001-3003)CCC>CTC p.P1001L NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 1000 Ig-like C2-type 6. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CTGAGGCCGGGGCTTGCCCTG 0.652 9 11 --- --- --- --- PASS OR5D16 390144 broad.mit.edu 37 11 55606660 55606660 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:55606660A>C uc010rio.1 + 1 433 c.433A>C c.(433-435)ATG>CTG p.M145L NM_001005496 NP_001005496 Q8NGK9 OR5DG_HUMAN olfactory receptor, family 5, subfamily D, 145 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4)|skin(1) 5 all_epithelial(135;0.208) ACTCTGTGCCATGCTGGTGGT 0.453 8 72 --- --- --- --- PASS OR8J1 219477 broad.mit.edu 37 11 56127828 56127828 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:56127828G>A uc010rjh.1 + 1 106 c.106G>A c.(106-108)GGG>AGG p.G36R NM_001005205 NP_001005205 Q8NGP2 OR8J1_HUMAN olfactory receptor, family 8, subfamily J, 36 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) GGTGCTCTATGGGCTGACCAT 0.498 12 90 --- --- --- --- PASS OR9G9 504191 broad.mit.edu 37 11 56468225 56468225 + Missense_Mutation SNP G C C rs148651508 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:56468225G>C uc010rjn.1 + 1 362 c.362G>C c.(361-363)CGC>CCC p.R121P NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 121 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTTATGACCGCTACGTGGCC 0.527 19 116 --- --- --- --- PASS P2RX3 5024 broad.mit.edu 37 11 57114588 57114588 + Splice_Site SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:57114588A>G uc001nju.2 + 3 332 c.256_splice c.e3-2 p.G86_splice NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 TCTCCTCCCAAGGGCACCTCG 0.318 3 36 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60183135 60183135 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:60183135G>T uc001npj.2 + 5 1259 c.694G>T c.(694-696)GAA>TAA p.E232* MS4A14_uc001npi.2_Nonsense_Mutation_p.E120*|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Nonsense_Mutation_p.E215*|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 232 integral to membrane receptor activity breast(1) 1 TGTGCCAGATGAACAAAAGCA 0.398 33 47 --- --- --- --- PASS MS4A8B 83661 broad.mit.edu 37 11 60482507 60482507 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:60482507C>T uc001npv.2 + 6 751 c.548C>T c.(547-549)GCG>GTG p.A183V NM_031457 NP_113645 Q9BY19 M4A8B_HUMAN membrane-spanning 4-domains, subfamily A, member 183 Helical; (Potential). integral to membrane receptor activity 0 CCTGGAATGGCGATTTCTGGC 0.318 11 79 --- --- --- --- PASS SLC22A8 9376 broad.mit.edu 37 11 62766531 62766531 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:62766531G>T uc001nwo.2 - 5 759 c.623C>A c.(622-624)GCC>GAC p.A208D SLC22A8_uc001nwn.1_5'UTR|SLC22A8_uc001nwp.2_Missense_Mutation_p.A208D|SLC22A8_uc009yom.2_Missense_Mutation_p.A85D|SLC22A8_uc010rmm.1_Missense_Mutation_p.A117D|SLC22A8_uc009yon.2_Missense_Mutation_p.A208D NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 208 Cytoplasmic (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 CGACATGATGGCCCGCATCCG 0.607 24 44 --- --- --- --- PASS EIF1AD 84285 broad.mit.edu 37 11 65767038 65767038 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:65767038C>A uc001ogm.1 - 4 590 c.305G>T c.(304-306)TGG>TTG p.W102L EIF1AD_uc001ogn.1_Missense_Mutation_p.W102L|BANF1_uc001ogo.2_5'Flank|BANF1_uc001ogp.2_5'Flank NM_032325 NP_115701 Q8N9N8 EIF1A_HUMAN eukaryotic translation initiation factor 1A 102 nucleus translation initiation factor activity 0 GACCACCTACCAAAACCCCTC 0.537 7 62 --- --- --- --- PASS RBM4 5936 broad.mit.edu 37 11 66411341 66411341 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:66411341C>T uc009yrj.2 + 3 1321 c.833C>T c.(832-834)CCG>CTG p.P278L RBM4_uc009yrk.2_Missense_Mutation_p.P253L|RBM4_uc001oiw.1_Missense_Mutation_p.P278L|RBM4_uc001oix.1_Intron|RBM4_uc010rpj.1_Intron|RBM4_uc001oiy.1_Missense_Mutation_p.P278L|RBM4_uc001oiz.1_Missense_Mutation_p.P278L NM_002896 NP_002887 Q9BWF3 RBM4_HUMAN RNA binding motif protein 4 278 Interaction with TNPO3. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|negative regulation of translation in response to stress|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|positive regulation of muscle cell differentiation|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of nucleocytoplasmic transport|RNA splicing|stress-activated MAPK cascade nuclear speck|nucleolus|stress granule miRNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|zinc ion binding ovary(1) 1 Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266) CACCTGTTGCCGACCTCAGGA 0.433 4 39 --- --- --- --- PASS TPCN2 219931 broad.mit.edu 37 11 68838835 68838835 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:68838835C>T uc001oos.2 + 10 1023 c.907C>T c.(907-909)CTG>TTG p.L303L TPCN2_uc009ysk.1_RNA|TPCN2_uc001oor.2_Silent_p.L218L|TPCN2_uc010rqg.1_Silent_p.L303L|TPCN2_uc001oot.2_5'Flank NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN two pore segment channel 2 303 Helical; Name=S6 of repeat I; (Potential). cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) AAGCCTGTTTCTGATGAACCT 0.612 4 17 --- --- --- --- PASS PPFIA1 8500 broad.mit.edu 37 11 70176310 70176310 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:70176310G>T uc001opo.2 + 8 1160 c.962G>T c.(961-963)AGA>ATA p.R321I PPFIA1_uc001opn.1_Missense_Mutation_p.R321I|PPFIA1_uc001opp.2_RNA|PPFIA1_uc001opq.1_RNA NM_003626 NP_003617 Q13136 LIPA1_HUMAN PTPRF interacting protein alpha 1 isoform b 321 Potential. 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) ATGGAAGAGAGAATCACTACT 0.378 14 48 --- --- --- --- PASS OR2AT4 341152 broad.mit.edu 37 11 74800671 74800671 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:74800671G>A uc010rro.1 - 1 88 c.88C>T c.(88-90)CTC>TTC p.L30F NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, 30 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AACACAGGGAGGAAGAAGGTC 0.532 17 26 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76257279 76257279 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:76257279A>T uc001oxl.2 + 20 3855 c.3712A>T c.(3712-3714)ATG>TTG p.M1238L C11orf30_uc001oxm.2_Missense_Mutation_p.M1140L|C11orf30_uc010rsb.1_Missense_Mutation_p.M1253L|C11orf30_uc010rsc.1_Missense_Mutation_p.M1239L|C11orf30_uc001oxn.2_Missense_Mutation_p.M1239L|C11orf30_uc010rsd.1_Missense_Mutation_p.M1147L|C11orf30_uc010rse.1_Missense_Mutation_p.M485L|C11orf30_uc001oxp.2_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1238 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 AGGCCAGTTCATGCGTATTCA 0.448 5 42 --- --- --- --- PASS C11orf30 56946 broad.mit.edu 37 11 76257281 76257281 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:76257281G>T uc001oxl.2 + 20 3857 c.3714G>T c.(3712-3714)ATG>ATT p.M1238I C11orf30_uc001oxm.2_Missense_Mutation_p.M1140I|C11orf30_uc010rsb.1_Missense_Mutation_p.M1253I|C11orf30_uc010rsc.1_Missense_Mutation_p.M1239I|C11orf30_uc001oxn.2_Missense_Mutation_p.M1239I|C11orf30_uc010rsd.1_Missense_Mutation_p.M1147I|C11orf30_uc010rse.1_Missense_Mutation_p.M485I|C11orf30_uc001oxp.2_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN EMSY protein 1238 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GCCAGTTCATGCGTATTCAGA 0.448 3 44 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76372296 76372296 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:76372296G>T uc001oxq.3 - 3 584 c.341C>A c.(340-342)GCG>GAG p.A114E LRRC32_uc001oxr.3_Missense_Mutation_p.A114E|LRRC32_uc010rsf.1_Missense_Mutation_p.A114E NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 114 LRR 3.|Extracellular (Potential). integral to plasma membrane 0 AGCACTCAGCGCAGTGGCCAT 0.677 12 31 --- --- --- --- PASS TSKU 25987 broad.mit.edu 37 11 76507479 76507479 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:76507479G>T uc001oxt.2 + 2 991 c.819G>T c.(817-819)GAG>GAT p.E273D NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 273 LRR 9. extracellular region 0 Ovarian(111;0.112) CAGGAGCTGAGGTGTTTTCAG 0.662 28 40 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92258043 92258043 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:92258043C>A uc001pdj.3 + 2 3553 c.3536C>A c.(3535-3537)TCC>TAC p.S1179Y NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1179 Cadherin 11.|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) GACTCCAGTTCCAATGAAAAA 0.388 TCGA Ovarian(4;0.039) 11 13 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92532911 92532911 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:92532911C>G uc001pdj.3 + 9 6749 c.6732C>G c.(6730-6732)AGC>AGG p.S2244R NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2244 Cadherin 20.|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) AAGTTGTTAGCCCTTTGGATT 0.443 TCGA Ovarian(4;0.039) 3 6 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102592148 102592148 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:102592148C>G uc001phe.2 - 4 705 c.606G>C c.(604-606)TGG>TGC p.W202C MMP8_uc010rut.1_Missense_Mutation_p.W137C|MMP8_uc010ruu.1_Missense_Mutation_p.W179C NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 202 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGGTGTTGGTCCATGTTTCTT 0.373 10 38 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108057295 108057295 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:108057295C>A uc001pjz.3 - 8 742 c.640G>T c.(640-642)GAA>TAA p.E214* NPAT_uc001pka.2_Nonsense_Mutation_p.E9* NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 214 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) CTCTGAGATTCACTGAAACAC 0.318 21 37 --- --- --- --- PASS ANKK1 255239 broad.mit.edu 37 11 113266824 113266824 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:113266824G>T uc001pny.2 + 5 812 c.718G>T c.(718-720)GCA>TCA p.A240S NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 240 Protein kinase. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CCGAGTGGCGGCAGGCATGCG 0.597 11 27 --- --- --- --- PASS ABCG4 64137 broad.mit.edu 37 11 119031262 119031262 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:119031262G>A uc001pvs.2 + 14 1947 c.1611G>A c.(1609-1611)GTG>GTA p.V537V ABCG4_uc009zar.2_Silent_p.V537V NM_022169 NP_071452 Q9H172 ABCG4_HUMAN ATP-binding cassette, subfamily G, member 4 537 ABC transmembrane type-2.|Helical; Name=5; (Potential). cholesterol efflux integral to membrane ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity ovary(2) 2 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) CCACTTTTGTGGGCCCAGTTA 0.567 77 141 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124412845 124412845 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:124412845C>T uc010sam.1 - 1 706 c.706G>A c.(706-708)GCC>ACC p.A236T NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 236 Cytoplasmic (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) GTACTAAAGGCTTTGGACCTG 0.453 3 19 --- --- --- --- PASS CCDC15 80071 broad.mit.edu 37 11 124829068 124829068 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:124829068G>A uc001qbm.3 + 3 494 c.235G>A c.(235-237)GCT>ACT p.A79T NM_025004 NP_079280 Q0P6D6 CCD15_HUMAN coiled-coil domain containing 15 79 Potential. centrosome ovary(1)|central_nervous_system(1) 2 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413) AAAACAAGAAGCTTTGAAACA 0.299 4 6 --- --- --- --- PASS KDM5A 5927 broad.mit.edu 37 12 464404 464404 + Nonsense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:464404G>A uc001qif.1 - 7 1153 c.790C>T c.(790-792)CGA>TGA p.R264* KDM5A_uc001qie.1_Nonsense_Mutation_p.R264*|KDM5A_uc010sdn.1_Nonsense_Mutation_p.R223*|KDM5A_uc010sdo.1_Intron NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 264 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 TTTCGTCTTCGGGTGACCTCA 0.269 T NUP98 AML 10 78 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 862973 862973 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:862973G>C uc001qio.3 + 1 749 c.242G>C c.(241-243)CGC>CCC p.R81P WNK1_uc001qin.2_Missense_Mutation_p.R81P|WNK1_uc001qip.3_Missense_Mutation_p.R81P NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 81 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) CGCTTCTTCCGCCGGAGCGTC 0.672 12 30 --- --- --- --- PASS C12orf32 83695 broad.mit.edu 37 12 2997321 2997321 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:2997321G>T uc001qlh.2 + 3 581 c.413G>T c.(412-414)GGG>GTG p.G138V TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'Flank|TULP3_uc010seg.1_5'Flank|TULP3_uc001qlj.2_5'Flank|TULP3_uc010seh.1_5'Flank|TULP3_uc010sei.1_5'Flank|C12orf32_uc010see.1_Missense_Mutation_p.G124V|C12orf32_uc001qli.2_5'UTR NR_027363 RecName: Full=Uncharacterized protein C12orf32; 0 OV - Ovarian serous cystadenocarcinoma(31;0.000622) CAAAGCTGTGGGAACATGTCA 0.498 38 51 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6703658 6703658 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:6703658C>G uc001qpo.2 - 15 2444 c.2280G>C c.(2278-2280)CAG>CAC p.Q760H CHD4_uc001qpn.2_Missense_Mutation_p.Q753H|CHD4_uc001qpp.2_Missense_Mutation_p.Q757H NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 760 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 AGACTGCTGTCTGTACAGTTT 0.483 17 41 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7647932 7647932 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:7647932C>A uc001qsz.3 - 6 1293 c.1165G>T c.(1165-1167)GAG>TAG p.E389* CD163_uc001qta.3_Nonsense_Mutation_p.E389*|CD163_uc009zfw.2_Nonsense_Mutation_p.E389* NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 389 SRCR 4.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 CTCTGAATCTCCACCTCAACT 0.493 14 33 --- --- --- --- PASS SLC2A3 6515 broad.mit.edu 37 12 8083956 8083956 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:8083956C>A uc001qtr.2 - 4 657 c.395G>T c.(394-396)GGA>GTA p.G132V SLC2A3_uc001qts.2_Missense_Mutation_p.G132V NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 132 Helical; Name=4; (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) TGTGCAGAGTCCGCAGAAGAG 0.537 8 18 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21355512 21355512 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:21355512C>A uc001req.3 + 10 1327 c.1223C>A c.(1222-1224)GCC>GAC p.A408D NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 408 Helical; Name=9; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GTTGGAATTGCCAAATTCTCA 0.333 13 28 --- --- --- --- PASS ARID2 196528 broad.mit.edu 37 12 46240701 46240701 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:46240701G>T uc001ros.1 + 12 1561 c.1561G>T c.(1561-1563)GAG>TAG p.E521* ARID2_uc001ror.2_Nonsense_Mutation_p.E521*|ARID2_uc009zkg.1_5'UTR|ARID2_uc009zkh.1_Nonsense_Mutation_p.E148* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 521 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) AATAGATAGTGAGAAGTTTGC 0.363 58 50 --- --- --- --- PASS AQP5 362 broad.mit.edu 37 12 50355822 50355822 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:50355822G>T uc001rvo.2 + 1 544 c.22G>T c.(22-24)GTG>TTG p.V8L NM_001651 NP_001642 P55064 AQP5_HUMAN aquaporin 5 8 Cytoplasmic (Potential). carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion apical plasma membrane|integral to plasma membrane protein binding|water channel activity 0 GGTGTGCTCCGTGGCCTTCCT 0.373 11 12 --- --- --- --- PASS ACCN2 41 broad.mit.edu 37 12 50472763 50472763 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:50472763G>A uc001rvw.2 + 7 1280 c.1051G>A c.(1051-1053)GAC>AAC p.D351N ACCN2_uc001rvv.2_Missense_Mutation_p.D351N|ACCN2_uc009zln.2_Missense_Mutation_p.D142N|ACCN2_uc009zlo.2_Missense_Mutation_p.D351N NM_001095 NP_001086 P78348 ACCN2_HUMAN amiloride-sensitive cation channel 2, neuronal 351 Extracellular (By similarity). calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(1) 1 Amiloride(DB00594) TCCTGCTCTGGGTGAGCGCCC 0.577 16 108 --- --- --- --- PASS HIGD1C 613227 broad.mit.edu 37 12 51347861 51347861 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:51347861C>T uc010smw.1 + 1 80 c.80C>T c.(79-81)CCC>CTC p.P27L NM_001109619 NP_001103089 A8MV81 HIG1C_HUMAN HIG1 domain family, member 1C 27 HIG1.|Helical; (Potential). integral to membrane 0 AGAGACTCCCCCTTTGTCCCT 0.343 20 33 --- --- --- --- PASS KRT5 3852 broad.mit.edu 37 12 52913994 52913994 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:52913994G>A uc001san.2 - 1 250 c.87C>T c.(85-87)CGC>CGT p.R29R KRT5_uc009zmh.2_Silent_p.R29R NM_000424 NP_000415 P13647 K2C5_HUMAN keratin 5 29 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton 0 BRCA - Breast invasive adenocarcinoma(357;0.189) TGAAGCTGGTGCGGGAGACAG 0.662 21 16 --- --- --- --- PASS KRT2 3849 broad.mit.edu 37 12 53044194 53044194 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:53044194G>C uc001sat.2 - 2 762 c.729C>G c.(727-729)CTC>CTG p.L243L NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 243 Coil 1B.|Rod. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) TTTCTGCAGTGAGCCCATCCA 0.488 40 72 --- --- --- --- PASS OR6C76 390326 broad.mit.edu 37 12 55820349 55820349 + Silent SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:55820349T>C uc010spm.1 + 1 312 c.312T>C c.(310-312)CTT>CTC p.L104L NM_001005183 NP_001005183 A6NM76 O6C76_HUMAN olfactory receptor, family 6, subfamily C, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTATCTTCCTTGGCTCAACGG 0.408 23 155 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58127845 58127845 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:58127845G>C uc001spq.2 - 5 1513 c.1513C>G c.(1513-1515)CGA>GGA p.R505G AGAP2_uc001spp.2_Missense_Mutation_p.R505G|AGAP2_uc001spr.2_Missense_Mutation_p.R169G NM_001122772 NP_001116244 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-L 505 G domain. axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction mitochondrion|nucleolus ARF GTPase activator activity|GTP binding|zinc ion binding central_nervous_system(3)|breast(2) 5 AGGCCTCCTCGTCCCTCCCCG 0.587 12 17 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 63987866 63987866 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:63987866C>A uc001srp.1 - 16 1761 c.1580_splice c.e16+1 p.R527_splice NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) GATATAATTACCTTAGATAAA 0.234 11 12 --- --- --- --- PASS WIF1 11197 broad.mit.edu 37 12 65462643 65462643 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:65462643C>A uc001ssk.2 - 4 584 c.439G>T c.(439-441)GTG>TTG p.V147L NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 147 WIF. multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) AATGCTGCCACCCCATCCTGT 0.363 T HMGA2 pleomorphic salivary gland adenoma 16 38 --- --- --- --- PASS LGR5 8549 broad.mit.edu 37 12 71960207 71960207 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:71960207A>G uc001swl.2 + 9 929 c.881A>G c.(880-882)CAA>CGA p.Q294R LGR5_uc001swm.2_Missense_Mutation_p.Q270R|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 294 Extracellular (Potential).|LRR 10. integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 AATCCCATCCAGTTTGTTGGG 0.279 16 24 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444456 75444456 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:75444456C>A uc001sxg.1 - 3 1873 c.1329G>T c.(1327-1329)ATG>ATT p.M443I KCNC2_uc009zry.2_Missense_Mutation_p.M443I|KCNC2_uc001sxe.2_Missense_Mutation_p.M443I|KCNC2_uc001sxf.2_Missense_Mutation_p.M443I|KCNC2_uc010stw.1_Missense_Mutation_p.M443I NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 443 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 TTTGGGGGTACATATCCCCAT 0.512 15 23 --- --- --- --- PASS KCNC2 3747 broad.mit.edu 37 12 75444506 75444506 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:75444506C>G uc001sxg.1 - 3 1823 c.1279G>C c.(1279-1281)GGG>CGG p.G427R KCNC2_uc009zry.2_Missense_Mutation_p.G427R|KCNC2_uc001sxe.2_Missense_Mutation_p.G427R|KCNC2_uc001sxf.2_Missense_Mutation_p.G427R|KCNC2_uc010stw.1_Missense_Mutation_p.G427R NM_139137 NP_631875 Q96PR1 KCNC2_HUMAN Shaw-related voltage-gated potassium channel 427 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex voltage-gated potassium channel activity breast(2)|pancreas(2)|skin(1)|lung(1) 6 CACCAGAACCCAATGGGAATG 0.512 18 21 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78513396 78513396 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:78513396C>G uc001syp.2 + 15 3593 c.3420C>G c.(3418-3420)CGC>CGG p.R1140R NAV3_uc001syo.2_Silent_p.R1140R|NAV3_uc010sub.1_Silent_p.R640R|NAV3_uc009zsf.2_Silent_p.R148R NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1140 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 GCTTGCCCCGCCCTTCAAAAT 0.522 HNSCC(70;0.22) 20 25 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78515843 78515843 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:78515843G>T uc001syp.2 + 16 4046 c.3873G>T c.(3871-3873)CCG>CCT p.P1291P NAV3_uc001syo.2_Silent_p.P1291P|NAV3_uc010sub.1_Silent_p.P791P|NAV3_uc009zsf.2_Intron NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1291 Ser-rich. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TGGAGTCACCGTCGTCCGGTA 0.537 HNSCC(70;0.22) 11 29 --- --- --- --- PASS CHST11 50515 broad.mit.edu 37 12 105151514 105151514 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:105151514A>G uc001tkx.1 + 4 1283 c.992A>G c.(991-993)TAC>TGC p.Y331C CHST11_uc001tky.2_Missense_Mutation_p.Y326C|uc001tkz.2_5'Flank NM_018413 NP_060883 Q9NPF2 CHSTB_HUMAN carbohydrate sulfotransferase 11 331 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi membrane|integral to membrane chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity 0 ACGCAGCTGTACGAAGTCTAC 0.433 15 34 --- --- --- --- PASS CRY1 1407 broad.mit.edu 37 12 107393465 107393465 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:107393465C>A uc001tmi.3 - 7 1860 c.1001G>T c.(1000-1002)CGG>CTG p.R334L NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 334 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 AAAGCCTGTCCGGCCTTCCGC 0.473 12 21 --- --- --- --- PASS WSCD2 9671 broad.mit.edu 37 12 108634306 108634306 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:108634306C>A uc001tms.2 + 8 2074 c.1330C>A c.(1330-1332)CAC>AAC p.H444N WSCD2_uc001tmt.2_Missense_Mutation_p.H444N|WSCD2_uc001tmu.2_Missense_Mutation_p.H192N NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 444 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 TGCGCATGCCCACTGGAAGGG 0.557 13 28 --- --- --- --- PASS TBX3 6926 broad.mit.edu 37 12 115117336 115117336 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:115117336C>A uc001tvt.1 - 4 1802 c.838G>T c.(838-840)GCT>TCT p.A280S TBX3_uc001tvu.1_Missense_Mutation_p.A260S NM_016569 NP_057653 O15119 TBX3_HUMAN T-box 3 protein isoform 2 280 T-box; second part. 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) GCAGTCACAGCGATGAATTCA 0.418 27 60 --- --- --- --- PASS MED13L 23389 broad.mit.edu 37 12 116549311 116549311 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:116549311T>A uc001tvw.2 - 3 372 c.317A>T c.(316-318)GAA>GTA p.E106V NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 106 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GAGTCCTTCTTCCACAACTGa 0.328 9 36 --- --- --- --- PASS P2RX4 5025 broad.mit.edu 37 12 121666570 121666570 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:121666570G>A uc001tzr.2 + 7 952 c.648G>A c.(646-648)TCG>TCA p.S216S P2RX4_uc010szr.1_RNA|P2RX4_uc010szs.1_RNA|P2RX4_uc009zxc.2_Silent_p.S189S|P2RX4_uc001tzs.2_Silent_p.S232S|P2RX4_uc009zxb.2_RNA|P2RX4_uc010szt.1_Silent_p.S115S NM_002560 NP_002551 Q99571 P2RX4_HUMAN purinergic receptor P2X4 216 Extracellular (Potential). endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis cell junction|perinuclear region of cytoplasm cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACCTCAAGTCGTGCATTTATG 0.473 28 57 --- --- --- --- PASS ATP6V0A2 23545 broad.mit.edu 37 12 124212412 124212412 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:124212412G>A uc001ufr.2 + 6 852 c.604G>A c.(604-606)GTG>ATG p.V202M ATP6V0A2_uc001ufq.1_Missense_Mutation_p.V202M NM_012463 NP_036595 Q9Y487 VPP2_HUMAN ATPase, H+ transporting, lysosomal V0 subunit 202 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain hydrogen ion transmembrane transporter activity|protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775) GTACACCATCGTGTCCTATGC 0.433 19 34 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124950785 124950785 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr12:124950785G>C uc010tba.1 - 5 756 c.639C>G c.(637-639)CCC>CCG p.P213P NCOR2_uc010tay.1_Silent_p.P213P|NCOR2_uc010taz.1_Silent_p.P213P|NCOR2_uc010tbb.1_Silent_p.P213P|NCOR2_uc010tbc.1_Silent_p.P213P|NCOR2_uc001ugj.1_Silent_p.P213P|NCOR2_uc001ugk.1_Silent_p.P213P NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 213 Potential. cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GCGGTGACACGGGCTTCTCAG 0.682 19 49 --- --- --- --- PASS N6AMT2 221143 broad.mit.edu 37 13 21331602 21331602 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:21331602C>A uc001uno.1 - 2 217 c.136G>T c.(136-138)GAG>TAG p.E46* N6AMT2_uc009zzr.1_Nonsense_Mutation_p.E46*|N6AMT2_uc001unp.2_RNA NM_174928 NP_777588 Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 46 methyltransferase activity|nucleic acid binding 0 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) ACCCAATTCTCTTCTATTATT 0.413 19 48 --- --- --- --- PASS PABPC3 5042 broad.mit.edu 37 13 25670683 25670683 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:25670683A>C uc001upy.2 + 1 408 c.347A>C c.(346-348)TAT>TCT p.Y116S NM_030979 NP_112241 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 116 RRM 2. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding ovary(3)|skin(1) 4 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) AAAGCACTGTATGATACAGTT 0.393 25 62 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26152955 26152955 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:26152955T>A uc001uqk.2 + 21 1927 c.1785T>A c.(1783-1785)GAT>GAA p.D595E ATP8A2_uc010tdi.1_Missense_Mutation_p.D555E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Missense_Mutation_p.D105E NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 555 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) TTTTATAGGATAATGTGATTT 0.373 6 26 --- --- --- --- PASS POSTN 10631 broad.mit.edu 37 13 38137489 38137489 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:38137489C>T uc001uwo.3 - 23 2610 c.2492G>A c.(2491-2493)AGG>AAG p.R831K POSTN_uc010tet.1_Missense_Mutation_p.R332K|POSTN_uc001uwp.3_Missense_Mutation_p.R774K|POSTN_uc001uwr.2_Missense_Mutation_p.R776K|POSTN_uc001uwq.2_Missense_Mutation_p.R746K NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 831 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) ACGACCTTCCCTTAATCGTCT 0.303 10 37 --- --- --- --- PASS FREM2 341640 broad.mit.edu 37 13 39264710 39264710 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:39264710G>T uc001uwv.2 + 1 3538 c.3229G>T c.(3229-3231)GTA>TTA p.V1077L NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 1077 Extracellular (Potential).|CSPG 7. cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ACAGTTGATAGTAATGGAAGG 0.418 32 51 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67800109 67800109 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:67800109C>A uc001vik.2 - 2 3156 c.2464G>T c.(2464-2466)GGT>TGT p.G822C PCDH9_uc001vil.2_Missense_Mutation_p.G822C|PCDH9_uc010thl.1_Missense_Mutation_p.G822C|PCDH9_uc001vin.3_Missense_Mutation_p.G822C NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 822 Helical; (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACCATGGCACCGGCGATGATG 0.527 34 70 --- --- --- --- PASS PCDH9 5101 broad.mit.edu 37 13 67802410 67802410 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:67802410C>T uc001vik.2 - 2 855 c.163G>A c.(163-165)GCC>ACC p.A55T PCDH9_uc001vil.2_Missense_Mutation_p.A55T|PCDH9_uc010thl.1_Missense_Mutation_p.A55T|PCDH9_uc001vin.3_Missense_Mutation_p.A55T NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 55 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTCCCTGTGGCAGCATTGATG 0.448 16 38 --- --- --- --- PASS DACH1 1602 broad.mit.edu 37 13 72147095 72147095 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:72147095G>T uc010thn.1 - 5 1599 c.1176C>A c.(1174-1176)AGC>AGA p.S392R DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 444 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CTGGAGGTAGGCTGACAGGAA 0.458 6 21 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76427226 76427226 + Splice_Site SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:76427226A>T uc001vjv.2 + 25 4426 c.3666_splice c.e25-2 p.R1222_splice LMO7_uc010thv.1_Splice_Site_p.R1173_splice|LMO7_uc010thw.1_Splice_Site_p.R1099_splice NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TTTGTGTTTCAGAGGCGAATC 0.363 7 20 --- --- --- --- PASS SLITRK1 114798 broad.mit.edu 37 13 84454000 84454000 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:84454000C>A uc001vlk.2 - 1 2529 c.1643G>T c.(1642-1644)GGT>GTT p.G548V NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN slit and trk like 1 protein precursor 548 LRRCT 2.|Extracellular (Potential). integral to membrane ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) CACTTCGGAACCCAAGCGTTC 0.532 7 14 --- --- --- --- PASS TGDS 23483 broad.mit.edu 37 13 95228567 95228567 + Splice_Site SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:95228567C>T uc001vlw.2 - 11 1103 c.982_splice c.e11+1 p.I328_splice TGDS_uc001vlx.2_Splice_Site NM_014305 NP_055120 O95455 TGDS_HUMAN TDP-glucose 4,6-dehydratase cellular metabolic process coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding 0 all_neural(89;0.0684)|Medulloblastoma(90;0.163) TCAAAACATACTTGTTTTCTT 0.338 11 33 --- --- --- --- PASS DZIP1 22873 broad.mit.edu 37 13 96277157 96277157 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr13:96277157C>T uc001vmk.2 - 8 1689 c.837G>A c.(835-837)GAG>GAA p.E279E DZIP1_uc001vml.2_Silent_p.E279E NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 279 Potential. germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AAAAGTCTTCCTCTTTTGTTT 0.279 6 14 --- --- --- --- PASS OR4K1 79544 broad.mit.edu 37 14 20404367 20404367 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:20404367T>A uc001vwj.1 + 1 542 c.542T>A c.(541-543)CTT>CAT p.L181H NM_001004063 NP_001004063 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, 181 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) TTTTGTGACCTTCCCTTGGTG 0.478 15 172 --- --- --- --- PASS OR4K15 81127 broad.mit.edu 37 14 20444303 20444303 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:20444303C>A uc010tkx.1 + 1 626 c.626C>A c.(625-627)ACC>AAC p.T209N NM_001005486 NP_001005486 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, 209 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) CCTCTAGTGACCAAGTTAGCC 0.428 24 203 --- --- --- --- PASS RPGRIP1 57096 broad.mit.edu 37 14 21793152 21793152 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:21793152C>G uc001wag.2 + 14 2138 c.2138C>G c.(2137-2139)ACT>AGT p.T713S RPGRIP1_uc001wah.2_Missense_Mutation_p.T355S|RPGRIP1_uc001wai.2_Intron|RPGRIP1_uc001waj.1_Missense_Mutation_p.T178S|RPGRIP1_uc001wak.2_Missense_Mutation_p.T188S|RPGRIP1_uc010aim.2_Missense_Mutation_p.T96S|RPGRIP1_uc001wal.2_Missense_Mutation_p.T72S|RPGRIP1_uc001wam.2_Missense_Mutation_p.T30S NM_020366 NP_065099 Q96KN7 RPGR1_HUMAN retinitis pigmentosa GTPase regulator 713 response to stimulus|visual perception cilium ovary(4)|breast(2)|pancreas(1) 7 all_cancers(95;0.0017) all_cancers(140;0.0973) Epithelial(56;6.24e-07)|all cancers(55;6.56e-06) GBM - Glioblastoma multiforme(265;0.00888) GAACACAGCACTCTTGCTGCA 0.522 11 89 --- --- --- --- PASS NRL 4901 broad.mit.edu 37 14 24551685 24551685 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:24551685G>T uc001wlo.2 - 2 504 c.373C>A c.(373-375)CAC>AAC p.H125N NRL_uc001wlp.2_Missense_Mutation_p.H125N|NRL_uc001wlq.2_Missense_Mutation_p.H125N NM_006177 NP_006168 P54845 NRL_HUMAN neural retina leucine zipper 125 response to stimulus|transcription from RNA polymerase II promoter|visual perception nucleus leucine zipper domain binding|sequence-specific DNA binding 0 GBM - Glioblastoma multiforme(265;0.0181) ACCTGGACGTGCTGGGCTCCT 0.642 11 76 --- --- --- --- PASS PSME2 5721 broad.mit.edu 37 14 24612869 24612869 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:24612869C>T uc001wmj.2 - 10 629 c.564G>A c.(562-564)CGG>CGA p.R188R FAM158A_uc001wmi.2_5'Flank|PSME2_uc001wmk.2_Silent_p.R111R NM_002818 NP_002809 Q9UL46 PSME2_HUMAN proteasome activator subunit 2 188 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 proteasome activator complex 0 GBM - Glioblastoma multiforme(265;0.00839) GCACCAAGGCCCGGTAATCCA 0.537 13 57 --- --- --- --- PASS TGM1 7051 broad.mit.edu 37 14 24724340 24724340 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:24724340C>A uc001wod.2 - 12 1889 c.1765G>T c.(1765-1767)GTG>TTG p.V589L TGM1_uc010tog.1_Missense_Mutation_p.V147L NM_000359 NP_000350 P22735 TGM1_HUMAN transglutaminase 1 589 cell envelope organization|keratinization|peptide cross-linking cornified envelope|intrinsic to membrane acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(265;0.0186) L-Glutamine(DB00130) TGCCCCATCACCGCGTCCTGT 0.582 9 45 --- --- --- --- PASS FOXG1 2290 broad.mit.edu 37 14 29237218 29237218 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:29237218C>A uc001wqe.2 + 1 932 c.733C>A c.(733-735)CAC>AAC p.H245N NM_005249 NP_005240 P55316 FOXG1_HUMAN forkhead box G1 245 Fork-head. axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.H245H(1) ovary(2)|lung(2) 4 LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575) GBM - Glioblastoma multiforme(265;0.00413) GGTGCCGCGCCACTACGACGA 0.622 8 30 --- --- --- --- PASS SCFD1 23256 broad.mit.edu 37 14 31099693 31099693 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:31099693A>T uc001wqm.1 + 3 167 c.143A>T c.(142-144)TAT>TTT p.Y48F SCFD1_uc001wqn.1_5'UTR|SCFD1_uc010tpg.1_Intron|SCFD1_uc010tph.1_5'UTR|SCFD1_uc010amf.1_5'UTR|SCFD1_uc010tpi.1_Intron|SCFD1_uc010amd.1_5'UTR|SCFD1_uc010ame.1_5'UTR NM_016106 NP_057190 Q8WVM8 SCFD1_HUMAN vesicle transport-related protein isoform a 48 post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane syntaxin-5 binding 0 Hepatocellular(127;0.0877) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119) GBM - Glioblastoma multiforme(265;0.0181) GTACTCATTTATGACAGATTT 0.318 19 50 --- --- --- --- PASS PTGDR 5729 broad.mit.edu 37 14 52735261 52735261 + Silent SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:52735261T>C uc001wzq.2 + 1 831 c.729T>C c.(727-729)TGT>TGC p.C243C NM_000953 NP_000944 Q13258 PD2R_HUMAN prostaglandin D2 receptor 243 Cytoplasmic (Potential). integral to membrane|plasma membrane prostaglandin D receptor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Breast(41;0.0639)|all_epithelial(31;0.0887) Nedocromil(DB00716) CCAGGGACTGTGCCGAGCCGC 0.687 26 49 --- --- --- --- PASS GPR137C 283554 broad.mit.edu 37 14 53100290 53100290 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:53100290G>C uc001wzu.3 + 5 910 c.910G>C c.(910-912)GGA>CGA p.G304R GPR137C_uc001wzt.3_Missense_Mutation_p.G320R NM_001099652 NP_001093122 Q8N3F9 G137C_HUMAN G protein-coupled receptor 137C 304 Helical; (Potential). integral to membrane 0 Breast(41;0.0716) TATAGTATTTGGAATGGTCCT 0.388 14 24 --- --- --- --- PASS C14orf118 55668 broad.mit.edu 37 14 76620929 76620929 + Missense_Mutation SNP G T T rs140112317 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:76620929G>T uc001xsh.2 + 2 309 c.223G>T c.(223-225)GAC>TAC p.D75Y C14orf118_uc001xsi.2_Missense_Mutation_p.D75Y|C14orf118_uc001xsj.1_Missense_Mutation_p.D75Y|C14orf118_uc001xsk.1_Missense_Mutation_p.D75Y|C14orf118_uc001xsl.2_RNA NM_017926 NP_060396 Q9NWQ4 CN118_HUMAN hypothetical protein LOC55668 isoform 1 75 ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(234;0.0172) GGCCACTAAGGACTGTCGAGA 0.532 9 51 --- --- --- --- PASS C14orf166B 145497 broad.mit.edu 37 14 77327101 77327101 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:77327101G>A uc001xsx.2 + 11 1284 c.1170G>A c.(1168-1170)CTG>CTA p.L390L C14orf166B_uc010asn.1_Silent_p.L150L|C14orf166B_uc001xsw.2_RNA NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 390 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) ACCCGCAGCTGGACGTGGTAT 0.532 9 40 --- --- --- --- PASS TMEM63C 57156 broad.mit.edu 37 14 77706032 77706032 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:77706032G>C uc001xtf.2 + 12 1105 c.893G>C c.(892-894)CGC>CCC p.R298P TMEM63C_uc010asq.1_Missense_Mutation_p.R298P NM_020431 NP_065164 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 298 integral to membrane 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) CCCTGTGCCCGCCTGTGCTTC 0.622 2 7 --- --- --- --- PASS TSHR 7253 broad.mit.edu 37 14 81562988 81562988 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:81562988T>A uc001xvd.1 + 7 707 c.551T>A c.(550-552)CTG>CAG p.L184Q TSHR_uc001xvb.1_Missense_Mutation_p.L184Q|TSHR_uc001xvc.2_Missense_Mutation_p.L184Q|TSHR_uc010tvs.1_Missense_Mutation_p.L184Q NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 184 Extracellular (Potential).|LRR 4. 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) TGTAGGAAGCTGTACAACAAT 0.438 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 10 27 --- --- --- --- PASS EML5 161436 broad.mit.edu 37 14 89105221 89105221 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:89105221T>C uc001xxg.2 - 32 4454 c.4268A>G c.(4267-4269)GAT>GGT p.D1423G EML5_uc001xxf.2_Missense_Mutation_p.D210G|EML5_uc001xxh.1_Missense_Mutation_p.D554G NM_183387 NP_899243 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 1415 WD 20. cytoplasm|microtubule ovary(3) 3 CAGAATATCATCATTATGTTC 0.328 5 1 --- --- --- --- PASS TTC8 123016 broad.mit.edu 37 14 89336410 89336410 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:89336410A>G uc010ath.2 + 11 1099 c.965A>G c.(964-966)AAC>AGC p.N322S TTC8_uc001xxl.2_Missense_Mutation_p.N67S|TTC8_uc010ati.2_Missense_Mutation_p.N108S|TTC8_uc001xxm.2_Missense_Mutation_p.N266S|TTC8_uc010atj.2_Missense_Mutation_p.N41S|TTC8_uc001xxi.2_Missense_Mutation_p.N306S|TTC8_uc001xxj.2_Missense_Mutation_p.N296S|TTC8_uc001xxk.2_Missense_Mutation_p.N266S NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN tetratricopeptide repeat domain 8 isoform B 332 TPR 4. cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding 0 TAGGAAATGAACAATATGTCA 0.294 Bardet-Biedl_syndrome 11 41 --- --- --- --- PASS GOLGA5 9950 broad.mit.edu 37 14 93273305 93273305 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:93273305G>T uc001yaz.1 + 3 951 c.769G>T c.(769-771)GAA>TAA p.E257* NM_005113 NP_005104 Q8TBA6 GOGA5_HUMAN Golgi autoantigen, golgin subfamily a, 5 257 Cytoplasmic (Potential).|Potential. Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding ovary(2)|lung(1) 3 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) AGAGACTCAAGAAGGTAGAGG 0.284 T RET papillary thyroid 9 21 --- --- --- --- PASS SERPINA9 327657 broad.mit.edu 37 14 94935745 94935745 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:94935745G>T uc001ydf.2 - 2 648 c.487C>A c.(487-489)CAG>AAG p.Q163K SERPINA9_uc001yde.2_Intron|SERPINA9_uc010avc.2_Missense_Mutation_p.Q14K|SERPINA9_uc001ydg.2_Missense_Mutation_p.Q127K|SERPINA9_uc001ydh.1_Missense_Mutation_p.Q163K|SERPINA9_uc001ydi.1_Missense_Mutation_p.Q127K NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 145 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) AAATTTGCCTGCAGCTGCAGC 0.522 12 100 --- --- --- --- PASS SERPINA12 145264 broad.mit.edu 37 14 94964318 94964318 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:94964318G>T uc001ydj.2 - 3 1213 c.417C>A c.(415-417)TTC>TTA p.F139L NM_173850 NP_776249 Q8IW75 SPA12_HUMAN serine (or cysteine) proteinase inhibitor, clade 139 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity central_nervous_system(2)|ovary(1)|lung(1) 4 COAD - Colon adenocarcinoma(157;0.235) TCTGGTCAATGAACAGCGTGT 0.468 11 79 --- --- --- --- PASS SERPINA5 5104 broad.mit.edu 37 14 95053730 95053730 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:95053730C>T uc001ydm.2 + 3 241 c.31C>T c.(31-33)CTT>TTT p.L11F SERPINA5_uc010ave.2_Missense_Mutation_p.L11F|SERPINA5_uc001ydn.1_Missense_Mutation_p.L11F NM_000624 NP_000615 P05154 IPSP_HUMAN serine (or cysteine) proteinase inhibitor, clade 11 fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis extracellular region|membrane|protein complex acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity ovary(2) 2 COAD - Colon adenocarcinoma(157;0.21) Drotrecogin alfa(DB00055)|Urokinase(DB00013) GTGCCTGGTGCTTCTCAGCCC 0.612 23 59 --- --- --- --- PASS CLMN 79789 broad.mit.edu 37 14 95679563 95679563 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:95679563T>C uc001yef.2 - 6 717 c.601A>G c.(601-603)ACG>GCG p.T201A NM_024734 NP_079010 Q96JQ2 CLMN_HUMAN calmin 201 Actin-binding.|CH 2. integral to membrane actin binding 0 Epithelial(152;0.193) TACTTTCTCGTTTTCCTCTGC 0.507 13 48 --- --- --- --- PASS CYP46A1 10858 broad.mit.edu 37 14 100173916 100173916 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:100173916G>A uc001ygo.2 + 7 594 c.594G>A c.(592-594)GGG>GGA p.G198G CYP46A1_uc001ygn.1_Silent_p.G160G|CYP46A1_uc001ygp.2_Silent_p.G45G NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 198 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) CAGCTTTTGGGATGGAGACCA 0.572 11 68 --- --- --- --- PASS CDC42BPB 9578 broad.mit.edu 37 14 103416104 103416104 + Silent SNP G A A rs145375683 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:103416104G>A uc001ymi.1 - 26 3679 c.3447C>T c.(3445-3447)CTC>CTT p.L1149L CDC42BPB_uc001ymj.1_Silent_p.L251L NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 1149 PH. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) ACGCAGACCTGAGATCCAAGA 0.498 18 25 --- --- --- --- PASS GPR132 29933 broad.mit.edu 37 14 105518189 105518189 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:105518189C>A uc001yqd.2 - 4 1184 c.285G>T c.(283-285)CTG>CTT p.L95L GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Silent_p.L86L NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 95 Helical; Name=2; (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) CCCAGAGTGGCAGCGTGCCTG 0.612 24 120 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106641665 106641665 + RNA SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr14:106641665G>C uc010tyt.1 - 1021 c.24336C>G Parts of antibodies, mostly variable regions. 0 CTCTGCCCTGGAGCTTCTGTG 0.552 33 162 --- --- --- --- PASS OR4M2 390538 broad.mit.edu 37 15 22369506 22369506 + Nonsense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:22369506A>T uc010tzu.1 + 1 931 c.931A>T c.(931-933)AAA>TAA p.K311* LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 311 Cytoplasmic (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) TATTTTGTGTAAAGAGAAGTG 0.343 3 27 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23889445 23889445 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:23889445G>A uc001ywj.3 - 1 1731 c.1636C>T c.(1636-1638)CTC>TTC p.L546F NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) TTTCCAAAGAGACCGTTTGTC 0.458 10 16 --- --- --- --- PASS C15orf2 23742 broad.mit.edu 37 15 24921123 24921123 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:24921123C>A uc001ywo.2 + 1 583 c.109C>A c.(109-111)CGG>AGG p.R37R NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 37 R -> Q (in a colorectal cancer sample; somatic mutation). cell differentiation|multicellular organismal development|spermatogenesis p.R37Q(1) ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CCCGCCCGGTCGGGCTCACTC 0.711 5 13 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26806186 26806186 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:26806186C>G uc001zaz.2 - 8 1115 c.973G>C c.(973-975)GCC>CCC p.A325P GABRB3_uc010uae.1_Missense_Mutation_p.A240P|GABRB3_uc001zba.2_Missense_Mutation_p.A325P|GABRB3_uc001zbb.2_Missense_Mutation_p.A381P NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 325 Helical; (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 upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TTGACAAAGGCATACTCCAGA 0.483 18 50 --- --- --- --- PASS GREM1 26585 broad.mit.edu 37 15 33022978 33022978 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:33022978C>T uc001zhe.1 + 2 246 c.87C>T c.(85-87)TCC>TCT p.S29S GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Silent_p.S29S NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 29 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) AGAAAGGGTCCCAAGGTGCCA 0.627 10 13 --- --- --- --- PASS GREM1 26585 broad.mit.edu 37 15 33022979 33022979 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:33022979C>G uc001zhe.1 + 2 247 c.88C>G c.(88-90)CAA>GAA p.Q30E GREM1_uc001zhd.1_Intron|GREM1_uc010uby.1_Missense_Mutation_p.Q30E NM_013372 NP_037504 O60565 GREM1_HUMAN gremlin-1 precursor 30 negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition extracellular space cytokine activity 0 all_lung(180;1.49e-09) all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107) GAAAGGGTCCCAAGGTGCCAT 0.632 9 13 --- --- --- --- PASS DUOX1 53905 broad.mit.edu 37 15 45456010 45456010 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:45456010A>G uc001zus.1 + 34 4773 c.4427A>G c.(4426-4428)CAG>CGG p.Q1476R DUOX1_uc001zut.1_Missense_Mutation_p.Q1476R|DUOX1_uc010bee.1_Missense_Mutation_p.Q856R NM_017434 NP_059130 Q9NRD9 DUOX1_HUMAN dual oxidase 1 precursor 1476 Cytoplasmic (Potential). 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) CGGCACTTCCAGAAGGTTCTG 0.562 OREG0023103 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 50 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48726794 48726794 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:48726794C>T uc001zwx.1 - 54 6941 c.6613G>A c.(6613-6615)GAA>AAA p.E2205K FBN1_uc010beo.1_RNA NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 2205 EGF-like 37; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) GATGTACCTTCACATGTCATC 0.418 17 38 --- --- --- --- PASS SLC27A2 11001 broad.mit.edu 37 15 50474976 50474976 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:50474976G>T uc001zxw.2 + 1 584 c.352G>T c.(352-354)GTG>TTG p.V118L SLC27A2_uc010bes.2_Missense_Mutation_p.V118L NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 118 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) GCCGGCCTACGTGTGGCTGTG 0.667 19 78 --- --- --- --- PASS VPS13C 54832 broad.mit.edu 37 15 62228845 62228845 + Silent SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:62228845A>T uc002agz.2 - 48 5780 c.5706T>A c.(5704-5706)ACT>ACA p.T1902T VPS13C_uc002aha.2_Silent_p.T1859T|VPS13C_uc002ahb.1_Silent_p.T1902T|VPS13C_uc002ahc.1_Silent_p.T1859T NM_020821 NP_065872 Q709C8 VP13C_HUMAN vacuolar protein sorting 13C protein isoform 2A 1902 protein localization ovary(2) 2 TCACTCTTACAGTCTCCTGCA 0.363 7 16 --- --- --- --- PASS TLN2 83660 broad.mit.edu 37 15 63000967 63000967 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:63000967G>T uc002alb.3 + 18 2439 c.2439G>T c.(2437-2439)GAG>GAT p.E813D NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 813 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GTGTCACCGAGAGCATCTTCA 0.592 5 13 --- --- --- --- PASS FEM1B 10116 broad.mit.edu 37 15 68570955 68570955 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:68570955A>G uc002arg.2 + 1 815 c.200A>G c.(199-201)GAA>GGA p.E67G NM_015322 NP_056137 Q9UK73 FEM1B_HUMAN fem-1 homolog b 67 ANK 1. apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity cytoplasm|nucleus death receptor binding|ubiquitin-protein ligase activity 0 TTGCTCTTAGAACATTACCGG 0.602 9 21 --- --- --- --- PASS THAP10 56906 broad.mit.edu 37 15 71184576 71184576 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:71184576G>A uc002asv.2 - 1 178 c.36C>T c.(34-36)AAC>AAT p.N12N LRRC49_uc002asu.2_Intron|LRRC49_uc002asw.2_5'Flank|LRRC49_uc002asx.2_5'Flank|LRRC49_uc010ukf.1_5'Flank NM_020147 NP_064532 Q9P2Z0 THA10_HUMAN THAP domain containing 10 12 THAP-type. DNA binding|metal ion binding ovary(1)|skin(1) 2 ACTTGGTGGTGTTGCCGCAGT 0.711 4 6 --- --- --- --- PASS C15orf27 123591 broad.mit.edu 37 15 76430220 76430220 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:76430220G>C uc002bbq.2 + 3 366 c.211G>C c.(211-213)GAT>CAT p.D71H C15orf27_uc010bkp.2_5'UTR|C15orf27_uc002bbr.2_5'UTR NM_152335 NP_689548 Q2M3C6 CO027_HUMAN hypothetical protein LOC123591 71 integral to membrane 0 TCTGGACGAAGATTACCAAAG 0.448 14 24 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79382708 79382708 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:79382708C>A uc002beq.2 - 1 508 c.133G>T c.(133-135)GCG>TCG p.A45S RASGRF1_uc002bep.2_Missense_Mutation_p.A45S|RASGRF1_uc002ber.3_Missense_Mutation_p.A45S NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 45 PH 1. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 TGCAGCAGCGCGAACCACTTG 0.647 47 63 --- --- --- --- PASS BNC1 646 broad.mit.edu 37 15 83936916 83936916 + Silent SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:83936916A>G uc002bjt.1 - 2 256 c.168T>C c.(166-168)TGT>TGC p.C56C BNC1_uc010uos.1_Silent_p.C44C NM_001717 NP_001708 Q01954 BNC1_HUMAN basonuclin 1 56 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3) 3 TGCATTGGTCACACTGACGGT 0.448 12 28 --- --- --- --- PASS ALPK3 57538 broad.mit.edu 37 15 85383912 85383912 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:85383912C>G uc002ble.2 + 5 2175 c.2008C>G c.(2008-2010)CAC>GAC p.H670D NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 670 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) CCAGCCCACACACTCCTTGAC 0.632 15 26 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89401963 89401963 + Silent SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:89401963T>C uc010upo.1 + 12 6521 c.6147T>C c.(6145-6147)ACT>ACC p.T2049T ACAN_uc010upp.1_Silent_p.T2049T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 2049 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CTGAACCAACTATTTCTCAGG 0.507 4 15 --- --- --- --- PASS IFT140 9742 broad.mit.edu 37 16 1639764 1639764 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:1639764C>A uc002cmb.2 - 7 1014 c.652G>T c.(652-654)GAT>TAT p.D218Y NM_014714 NP_055529 Q96RY7 IF140_HUMAN intraflagellar transport 140 218 ovary(3)|pancreas(1)|skin(1) 5 Hepatocellular(780;0.219) CCCTTCTCATCCACATAGTGC 0.537 27 48 --- --- --- --- PASS PKD1 5310 broad.mit.edu 37 16 2161421 2161421 + Silent SNP G A A rs148021876 byFrequency TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:2161421G>A uc002cos.1 - 15 3956 c.3747C>T c.(3745-3747)GAC>GAT p.D1249D PKD1_uc002cot.1_Silent_p.D1249D NM_001009944 NP_001009944 P98161 PKD1_HUMAN polycystin 1 isoform 1 precursor 1249 PKD 7.|Extracellular (Potential). calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding central_nervous_system(2)|skin(1) 3 GCACGGTGCCGTCCCCCATGT 0.706 5 21 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2806447 2806447 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:2806447G>T uc002crk.2 + 2 631 c.82G>T c.(82-84)GGC>TGC p.G28C SRRM2_uc002crj.1_Intron|SRRM2_uc002crl.1_Missense_Mutation_p.G28C|SRRM2_uc010bsu.1_Intron NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 28 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 CCTGGTGCGGGGCCGCCGGGG 0.711 7 18 --- --- --- --- PASS NLRC3 197358 broad.mit.edu 37 16 3613666 3613666 + Silent SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:3613666A>T uc010btn.2 - 5 1683 c.1272T>A c.(1270-1272)GGT>GGA p.G424G NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 424 NACHT. I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CGAGGTCTACACCAAACGCCT 0.587 5 17 --- --- --- --- PASS CREBBP 1387 broad.mit.edu 37 16 3900414 3900414 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:3900414T>C uc002cvv.2 - 2 886 c.682A>G c.(682-684)ACT>GCT p.T228A CREBBP_uc002cvw.2_Missense_Mutation_p.T228A NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 228 Interaction with SRCAP. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) ATGGCTGGAGTAGGGTACGGC 0.592 T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 18 48 --- --- --- --- PASS ANKS3 124401 broad.mit.edu 37 16 4747987 4747987 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:4747987G>A uc002cxj.1 - 15 2096 c.1801C>T c.(1801-1803)CCC>TCC p.P601S ANKS3_uc010uxr.1_Missense_Mutation_p.P124S|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Missense_Mutation_p.P528S|ANKS3_uc002cxk.2_Missense_Mutation_p.P472S|ANKS3_uc002cxl.2_Missense_Mutation_p.P428S|ANKS3_uc010uxs.1_Missense_Mutation_p.P528S NM_133450 NP_597707 Q6ZW76 ANKS3_HUMAN ankyrin repeat and sterile alpha motif domain 601 0 CCAGCTGGGGGGACGGCTAGG 0.617 3 4 --- --- --- --- PASS SEC14L5 9717 broad.mit.edu 37 16 5046873 5046873 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:5046873C>T uc002cye.2 + 8 978 c.798C>T c.(796-798)CAC>CAT p.H266H NM_014692 NP_055507 O43304 S14L5_HUMAN SEC14-like 5 266 integral to membrane|intracellular transporter activity 0 AAGATGAGCACATCCTTCGGT 0.493 4 13 --- --- --- --- PASS ALG1 56052 broad.mit.edu 37 16 5127927 5127927 + Missense_Mutation SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:5127927A>C uc002cym.2 + 6 690 c.649A>C c.(649-651)AAG>CAG p.K217Q ALG1_uc002cyj.2_Missense_Mutation_p.K106Q|ALG1_uc002cyn.2_Missense_Mutation_p.K217Q|ALG1_uc010bue.2_Missense_Mutation_p.K106Q|ALG1_uc010uxy.1_Missense_Mutation_p.K106Q NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 217 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) CGTCTACGACAAGCCCGCATC 0.567 22 72 --- --- --- --- PASS A2BP1 54715 broad.mit.edu 37 16 7568385 7568385 + Silent SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:7568385C>G uc002cys.2 + 5 1252 c.264C>G c.(262-264)ACC>ACG p.T88T A2BP1_uc010buf.1_Silent_p.T88T|A2BP1_uc002cyr.1_Silent_p.T88T|A2BP1_uc002cyt.2_Silent_p.T88T|A2BP1_uc010uxz.1_Silent_p.T131T|A2BP1_uc010uya.1_Silent_p.T124T|A2BP1_uc002cyv.1_Silent_p.T88T|A2BP1_uc010uyb.1_Silent_p.T88T|A2BP1_uc002cyw.2_Silent_p.T108T|A2BP1_uc002cyy.2_Silent_p.T108T|A2BP1_uc002cyx.2_Silent_p.T108T|A2BP1_uc010uyc.1_Silent_p.T108T NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 88 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) TCTCTGGCACCGCCACAGTAA 0.652 20 77 --- --- --- --- PASS CLEC16A 23274 broad.mit.edu 37 16 11145375 11145375 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:11145375G>A uc002dao.2 + 18 2102 c.1872G>A c.(1870-1872)AAG>AAA p.K624K CLEC16A_uc002dan.3_Silent_p.K606K NM_015226 NP_056041 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 624 ovary(1)|central_nervous_system(1) 2 TCTAGATGAAGCCCATGAACG 0.572 25 91 --- --- --- --- PASS CPPED1 55313 broad.mit.edu 37 16 12758889 12758889 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:12758889T>A uc002dca.3 - 4 910 c.799A>T c.(799-801)ATT>TTT p.I267F CPPED1_uc002dcb.3_Missense_Mutation_p.I125F|CPPED1_uc002dbz.3_RNA NM_018340 NP_060810 Q9BRF8 CPPED_HUMAN calcineurin-like phosphoesterase domain 267 hydrolase activity|metal ion binding 0 TGGCATCCAATGGCAGATGAC 0.557 3 55 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20331035 20331035 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:20331035A>G uc002dgv.2 - 7 1006 c.923T>C c.(922-924)ATC>ACC p.I308T GP2_uc002dgw.2_Missense_Mutation_p.I305T|GP2_uc002dgx.2_Missense_Mutation_p.I161T|GP2_uc002dgy.2_Missense_Mutation_p.I158T NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 308 ZP. anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 GTCTCTGATGATGAAATCATT 0.433 48 135 --- --- --- --- PASS GP2 2813 broad.mit.edu 37 16 20335424 20335424 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:20335424C>A uc002dgv.2 - 3 332 c.249G>T c.(247-249)CAG>CAT p.Q83H GP2_uc002dgw.2_Missense_Mutation_p.Q83H|GP2_uc002dgx.2_Intron|GP2_uc002dgy.2_Intron NM_001007240 NP_001007241 P55259 GP2_HUMAN zymogen granule membrane glycoprotein 2 isoform 83 anchored to membrane|extracellular region|plasma membrane ovary(3)|skin(1) 4 TATCGCACCCCTGGGACCCTG 0.567 22 51 --- --- --- --- PASS ACSM5 54988 broad.mit.edu 37 16 20451701 20451701 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:20451701T>A uc002dhe.2 + 14 1839 c.1692T>A c.(1690-1692)TCT>TCA p.S564S NM_017888 NP_060358 Q6NUN0 ACSM5_HUMAN acyl-CoA synthetase medium-chain family member 5 564 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding ovary(2) 2 AGACGGTTTCTGGAAAGATCC 0.438 9 30 --- --- --- --- PASS USP31 57478 broad.mit.edu 37 16 23079561 23079561 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:23079561C>A uc002dll.2 - 16 3865 c.3865G>T c.(3865-3867)GGA>TGA p.G1289* USP31_uc002dlk.2_Nonsense_Mutation_p.G561*|USP31_uc010vca.1_Nonsense_Mutation_p.G592*|USP31_uc010bxm.2_Nonsense_Mutation_p.G577* NM_020718 NP_065769 Q70CQ4 UBP31_HUMAN ubiquitin specific peptidase 31 1289 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) TGCTCTTTTCCCGTTGTATTT 0.547 50 198 --- --- --- --- PASS PRRT2 112476 broad.mit.edu 37 16 29824892 29824892 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:29824892G>T uc002due.3 + 2 818 c.517G>T c.(517-519)GAG>TAG p.E173* uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002duc.1_5'Flank|PRRT2_uc002dud.2_Nonsense_Mutation_p.E173*|PRRT2_uc002duf.1_Nonsense_Mutation_p.E173*|C16orf53_uc002dug.3_5'Flank NM_145239 NP_660282 Q7Z6L0 PRRT2_HUMAN proline-rich transmembrane protein 2 173 Extracellular (Potential).|Pro-rich. response to biotic stimulus integral to membrane 0 GATTCTGTCTGAGAGTGTAGG 0.627 14 27 --- --- --- --- PASS ITGAX 3687 broad.mit.edu 37 16 31374500 31374500 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:31374500G>T uc002ebu.1 + 14 1582 c.1515G>T c.(1513-1515)TGG>TGT p.W505C ITGAX_uc002ebt.2_Missense_Mutation_p.W505C|ITGAX_uc010vfk.1_Missense_Mutation_p.W155C NM_000887 NP_000878 P20702 ITAX_HUMAN integrin alpha X precursor 505 Extracellular (Potential). blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis integrin complex protein binding|receptor activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GAAGGTGGTGGTGTGATGCTG 0.637 23 73 --- --- --- --- PASS MIR1826 100302162 broad.mit.edu 37 16 33965529 33965529 + RNA SNP C A A rs437324 by1000genomes TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:33965529C>A hsa-mir-1826|MI0008194 + c.22C>A 0 ACACTTCGAACGCAATTGCAG 0.572 8 19 --- --- --- --- PASS MYLK3 91807 broad.mit.edu 37 16 46741619 46741619 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:46741619G>T uc002eei.3 - 13 2573 c.2457C>A c.(2455-2457)CCC>CCA p.P819P MYLK3_uc010vge.1_Silent_p.P478P NM_182493 NP_872299 Q32MK0 MYLK3_HUMAN myosin light chain kinase 3 819 cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis cytosol ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity stomach(2)|skin(2)|large_intestine(1)|ovary(1)|central_nervous_system(1) 7 all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) TTGAAGATTAGGGAGAAGTTG 0.383 11 27 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49670792 49670792 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:49670792C>A uc002efs.2 - 5 2569 c.2271G>T c.(2269-2271)TGG>TGT p.W757C ZNF423_uc010vgn.1_Missense_Mutation_p.W640C NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 757 C2H2-type 18. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) TGCGGAAGTCCCAGTTGCAGG 0.587 9 29 --- --- --- --- PASS ZNF423 23090 broad.mit.edu 37 16 49671126 49671126 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:49671126C>A uc002efs.2 - 5 2235 c.1937G>T c.(1936-1938)AGC>ATC p.S646I ZNF423_uc010vgn.1_Missense_Mutation_p.S529I NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 646 C2H2-type 14. cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) GGTCTGGAAGCTCTCAAAGTT 0.582 13 23 --- --- --- --- PASS ADCY7 113 broad.mit.edu 37 16 50347964 50347964 + Silent SNP C T T rs149953515 byFrequency TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:50347964C>T uc002egd.1 + 22 3115 c.2847C>T c.(2845-2847)CAC>CAT p.H949H NM_001114 NP_001105 P51828 ADCY7_HUMAN adenylate cyclase 7 949 Cytoplasmic (Potential).|Guanylate cyclase 2. activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding skin(1) 1 all_cancers(37;0.0127) GBM - Glioblastoma multiforme(240;0.195) Bromocriptine(DB01200) CCTCAGGGCACGAGAACCAGG 0.552 7 28 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51174144 51174144 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:51174144C>A uc010vgs.1 - 2 2020 c.1989G>T c.(1987-1989)TTG>TTT p.L663F SALL1_uc010vgr.1_Missense_Mutation_p.L566F|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 663 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACATGAGCGGCAACAAAGGGT 0.602 22 44 --- --- --- --- PASS SALL1 6299 broad.mit.edu 37 16 51175307 51175307 + Nonsense_Mutation SNP G A A rs104894537 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:51175307G>A uc010vgs.1 - 2 857 c.826C>T c.(826-828)CGA>TGA p.R276* SALL1_uc010vgr.1_Nonsense_Mutation_p.R179*|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 276 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GCAGATGTTCGTAAAGTACCT 0.502 23 78 --- --- --- --- PASS TOX3 27324 broad.mit.edu 37 16 52480035 52480035 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:52480035C>A uc002egw.2 - 5 948 c.777G>T c.(775-777)GTG>GTT p.V259V TOX3_uc010vgt.1_Silent_p.V254V|TOX3_uc010vgu.1_Silent_p.V259V NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 259 HMG box. apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 CATATGCTGACACTGGCTTCT 0.448 12 59 --- --- --- --- PASS IRX5 10265 broad.mit.edu 37 16 54967505 54967505 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:54967505C>T uc002ehv.2 + 3 1172 c.1172C>T c.(1171-1173)CCT>CTT p.P391L IRX5_uc002ehw.2_Missense_Mutation_p.P325L NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 391 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 GCGCAGTGTCCTTTTCCAGGC 0.697 4 21 --- --- --- --- PASS BBS2 583 broad.mit.edu 37 16 56535369 56535369 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:56535369C>T uc002ejd.2 - 10 1355 c.1121G>A c.(1120-1122)CGG>CAG p.R374Q BBS2_uc010ccg.2_3'UTR NM_031885 NP_114091 Q9BXC9 BBS2_HUMAN Bardet-Biedl syndrome 2 protein 374 adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development BBSome|cilium membrane|microtubule basal body|motile cilium protein binding ovary(1) 1 GATTATGCCCCGATGCCCATC 0.498 Bardet-Biedl_syndrome 21 67 --- --- --- --- PASS CCL17 6361 broad.mit.edu 37 16 57449013 57449013 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:57449013C>A uc002elj.1 + 3 220 c.91C>A c.(91-93)CGG>AGG p.R31R CCL17_uc010ccz.1_Silent_p.R60R NM_002987 NP_002978 Q92583 CCL17_HUMAN small inducible cytokine A17 precursor 31 cell-cell signaling|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|multicellular organismal development extracellular space chemokine activity ovary(1) 1 CAATGTGGGCCGGGAGTGCTG 0.607 37 72 --- --- --- --- PASS GPR56 9289 broad.mit.edu 37 16 57695777 57695777 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:57695777G>T uc002emb.2 + 14 2143 c.1851G>T c.(1849-1851)CTG>CTT p.L617L GPR56_uc002ema.1_Silent_p.L442L|GPR56_uc002emc.2_Silent_p.L611L|GPR56_uc002emf.2_Silent_p.L611L|GPR56_uc010vhs.1_Silent_p.L617L|GPR56_uc002emd.2_Silent_p.L611L|GPR56_uc002eme.2_Silent_p.L611L|GPR56_uc010vht.1_Silent_p.L616L|GPR56_uc002emg.3_Silent_p.L611L|GPR56_uc010vhu.1_Silent_p.L436L NM_005682 NP_005673 Q9Y653 GPR56_HUMAN G protein-coupled receptor 56 isoform a 617 Helical; Name=6; (Potential). brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity 0 GCCTCAGCCTGGTCCTTGGCC 0.577 16 39 --- --- --- --- PASS CCDC135 84229 broad.mit.edu 37 16 57732937 57732937 + Splice_Site SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:57732937G>T uc002emi.2 + 3 467 c.378_splice c.e3+1 p.P126_splice CCDC135_uc002emj.2_Splice_Site_p.P126_splice|CCDC135_uc002emk.2_Splice_Site_p.P126_splice NM_032269 NP_115645 Q8IY82 CC135_HUMAN coiled-coil domain containing 135 cytoplasm central_nervous_system(1) 1 TGAAGTGCCCGTAAGGCTGGC 0.642 26 95 --- --- --- --- PASS CDH8 1006 broad.mit.edu 37 16 61891022 61891022 + Splice_Site SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:61891022C>G uc002eog.1 - 4 919 c.667_splice c.e4+1 p.A223_splice CDH8_uc002eoh.2_Intron NM_001796 NP_001787 P55286 CADH8_HUMAN cadherin 8, type 2 preproprotein adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|skin(2)|breast(1) 9 Ovarian(137;0.0799)|Melanoma(118;0.16) UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249) AGGCCACAAACCTGTTTCAGG 0.388 15 51 --- --- --- --- PASS SLC38A8 146167 broad.mit.edu 37 16 84075715 84075715 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:84075715G>A uc002fhg.1 - 1 48 c.48C>T c.(46-48)CAC>CAT p.H16H NM_001080442 NP_001073911 A6NNN8 S38A8_HUMAN solute carrier family 38, member 8 16 amino acid transport|sodium ion transport integral to membrane 0 CCGTGGCAGGGTGAGGCTTTT 0.622 7 61 --- --- --- --- PASS USP6 9098 broad.mit.edu 37 17 5041503 5041503 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:5041503T>A uc002gau.1 + 21 3243 c.1013T>A c.(1012-1014)GTG>GAG p.V338E USP6_uc002gav.1_Missense_Mutation_p.V338E|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 338 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 GATGACACCGTGCTCAAGCAT 0.582 T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 31 69 --- --- --- --- PASS DLG4 1742 broad.mit.edu 37 17 7097029 7097029 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:7097029T>A uc002get.3 - 17 2878 c.1677A>T c.(1675-1677)CGA>CGT p.R559R DLG4_uc010vtm.1_RNA|DLG4_uc010vtn.1_Silent_p.R456R|DLG4_uc010cly.2_Silent_p.R513R|DLG4_uc010vto.1_Silent_p.R556R NM_001365 NP_001356 P78352 DLG4_HUMAN post-synaptic density protein 95 isoform 1 516 axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding ovary(1)|breast(1) 2 CCGAGTCTTCTCGACCTGGTG 0.617 4 9 --- --- --- --- PASS ATP1B2 482 broad.mit.edu 37 17 7556735 7556735 + Silent SNP C G G rs141966039 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:7556735C>G uc002gif.1 + 2 739 c.156C>G c.(154-156)ACC>ACG p.T52T NM_001678 NP_001669 P14415 AT1B2_HUMAN Na+/K+ -ATPase beta 2 subunit 52 Helical; Signal-anchor for type II membrane protein; (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|pancreas(1) 2 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) GGTTCCTCACCGCCATGTTCA 0.562 31 63 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C A A rs28934576 by1000genomes TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:7577120C>A uc002gim.2 - 8 1012 c.818G>T c.(817-819)CGT>CTT p.R273L TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141L|TP53_uc010cng.1_Missense_Mutation_p.R141L|TP53_uc002gii.1_Missense_Mutation_p.R141L|TP53_uc010cnh.1_Missense_Mutation_p.R273L|TP53_uc010cni.1_Missense_Mutation_p.R273L|TP53_uc002gij.2_Missense_Mutation_p.R273L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (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.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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) GGCACAAACACGCACCTCAAA 0.542 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 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-Fraumeni_syndrome|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) 7 17 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10353910 10353910 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:10353910C>T uc002gmn.2 - 30 4152 c.4041G>A c.(4039-4041)CTG>CTA p.L1347L uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1347 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 ACTGTTCCCGCAGCAGGTCAC 0.542 17 42 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11583238 11583238 + Missense_Mutation SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:11583238T>C uc002gne.2 + 18 3586 c.3518T>C c.(3517-3519)ATT>ACT p.I1173T DNAH9_uc010coo.2_Missense_Mutation_p.I467T NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 1173 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AAGCAGACTATTGAATTGCTG 0.408 10 53 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11726142 11726142 + Nonsense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:11726142A>T uc002gne.2 + 48 9105 c.9037A>T c.(9037-9039)AAA>TAA p.K3013* DNAH9_uc010coo.2_Nonsense_Mutation_p.K2307* NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3013 AAA 4 (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) GTCGATTAGCAAATTCATGGC 0.443 30 45 --- --- --- --- PASS COX10 1352 broad.mit.edu 37 17 14110505 14110505 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:14110505G>T uc002gof.3 + 7 1511 c.1307G>T c.(1306-1308)GGG>GTG p.G436V COX10_uc010vvs.1_Missense_Mutation_p.G219V|COX10_uc010vvt.1_Missense_Mutation_p.G244V NM_001303 NP_001294 Q12887 COX10_HUMAN heme A:farnesyltransferase precursor 436 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity 0 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AGCGGAGGCGGGGACGCAGGG 0.662 7 14 --- --- --- --- PASS MAP2K3 5606 broad.mit.edu 37 17 21205556 21205556 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:21205556G>A uc002gys.2 + 6 766 c.501G>A c.(499-501)GGG>GGA p.G167G MAP2K3_uc002gyt.2_Silent_p.G138G|MAP2K3_uc002gyu.2_Silent_p.G138G NM_145109 NP_659731 P46734 MP2K3_HUMAN mitogen-activated protein kinase kinase 3 167 Protein kinase. activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) ACATCCTTGGGGAGATTGCTG 0.572 6 31 --- --- --- --- PASS FLJ40504 284085 broad.mit.edu 37 17 26603915 26603915 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:26603915A>T uc002has.3 - 3 656 c.560T>A c.(559-561)CTG>CAG p.L187Q NM_173624 NP_775895 SubName: Full=Putative uncharacterized protein FLJ40504; SubName: Full=cDNA FLJ40504 fis, clone TESTI2045509, highly similar to KERATIN, TYPE I CYTOSKELETAL 18; 0 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.155) GTCGATCTGCAGAACAATGTG 0.522 14 43 --- --- --- --- PASS ATAD5 79915 broad.mit.edu 37 17 29195408 29195408 + Silent SNP A C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:29195408A>C uc002hfs.1 + 12 3637 c.3291A>C c.(3289-3291)GGA>GGC p.G1097G ATAD5_uc002hft.1_Silent_p.G994G NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1097 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ATCTGAAGGGAAAAAGAGATG 0.299 14 21 --- --- --- --- PASS AMAC1 146861 broad.mit.edu 37 17 33520778 33520778 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:33520778C>A uc002hjd.2 - 1 635 c.549G>T c.(547-549)GGG>GGT p.G183G NM_152462 NP_689675 Q8N808 AMAC1_HUMAN acyl-malonyl condensing enzyme 1 183 integral to membrane 0 BRCA - Breast invasive adenocarcinoma(366;0.0917) CACCCGTGGTCCCCTCCTGTA 0.592 23 91 --- --- --- --- PASS GPR179 440435 broad.mit.edu 37 17 36499258 36499258 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:36499258C>A uc002hpz.2 - 1 436 c.415G>T c.(415-417)GAG>TAG p.E139* NM_001004334 NP_001004334 Q6PRD1 GP179_HUMAN GPR158-like 1 precursor 139 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GGGTCCCCCTCGGCCACGCTG 0.617 12 62 --- --- --- --- PASS KRT37 8688 broad.mit.edu 37 17 39579038 39579038 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:39579038G>C uc002hwp.1 - 3 771 c.724C>G c.(724-726)CAC>GAC p.H242D uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 242 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) ACCTGCTCGTGGTTGCTCTTG 0.687 4 17 --- --- --- --- PASS ATP6V0A1 535 broad.mit.edu 37 17 40642586 40642586 + Nonsense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:40642586A>T uc002hzr.2 + 11 1272 c.1105A>T c.(1105-1107)AAG>TAG p.K369* ATP6V0A1_uc002hzq.2_Nonsense_Mutation_p.K369*|ATP6V0A1_uc002hzs.2_Nonsense_Mutation_p.K376*|ATP6V0A1_uc010wgj.1_Nonsense_Mutation_p.K326*|ATP6V0A1_uc010wgk.1_Nonsense_Mutation_p.K326*|ATP6V0A1_uc010cyg.2_Nonsense_Mutation_p.K15*|ATP6V0A1_uc010wgl.1_Nonsense_Mutation_p.K228* NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 369 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) CAAAACCAACAAGTTTACCTA 0.383 28 105 --- --- --- --- PASS BRCA1 672 broad.mit.edu 37 17 41215391 41215391 + Splice_Site SNP C T T rs80358137 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:41215391C>T uc002icq.2 - 18 5385 c.5153_splice c.e18-1 p.W1718_splice BRCA1_uc010whp.1_Splice_Site_p.W567_splice|BRCA1_uc010whl.1_Splice_Site_p.W614_splice|BRCA1_uc010whm.1_Splice_Site_p.W28_splice|BRCA1_uc002icp.3_Splice_Site_p.W1647_splice|BRCA1_uc002icu.2_Splice_Site_p.W614_splice|BRCA1_uc010cyx.2_Splice_Site_p.W1671_splice|BRCA1_uc002ict.2_Splice_Site_p.W1739_splice|BRCA1_uc010whn.1_Splice_Site_p.W209_splice|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TGGGTCACCCCTAAAGAGATC 0.368 D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 10 18 --- --- --- --- PASS GPATCH8 23131 broad.mit.edu 37 17 42475947 42475947 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:42475947C>A uc002igw.1 - 8 3562 c.3498G>T c.(3496-3498)TTG>TTT p.L1166F GPATCH8_uc002igv.1_Missense_Mutation_p.L1088F|GPATCH8_uc010wiz.1_Missense_Mutation_p.L1088F NM_001002909 NP_001002909 Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 1166 intracellular nucleic acid binding|zinc ion binding ovary(2)|kidney(1)|skin(1) 4 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) CCCCCCTTTCCAAGCCAGACT 0.537 44 124 --- --- --- --- PASS SPATA20 64847 broad.mit.edu 37 17 48629453 48629453 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:48629453G>T uc002irf.2 + 13 1962 c.1821G>T c.(1819-1821)CAG>CAT p.Q607H SPATA20_uc002irc.2_Missense_Mutation_p.Q274H|SPATA20_uc002ire.2_Missense_Mutation_p.Q563H|SPATA20_uc002ird.2_Missense_Mutation_p.Q623H|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 607 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) AGGACACACAGGACAAGCTCT 0.652 5 30 --- --- --- --- PASS SPATA20 64847 broad.mit.edu 37 17 48629454 48629454 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:48629454G>T uc002irf.2 + 13 1963 c.1822G>T c.(1822-1824)GAC>TAC p.D608Y SPATA20_uc002irc.2_Missense_Mutation_p.D275Y|SPATA20_uc002ire.2_Missense_Mutation_p.D564Y|SPATA20_uc002ird.2_Missense_Mutation_p.D624Y|SPATA20_uc002irg.2_RNA NM_022827 NP_073738 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 608 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding 0 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GGACACACAGGACAAGCTCTT 0.657 5 31 --- --- --- --- PASS KIF2B 84643 broad.mit.edu 37 17 51901800 51901800 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:51901800C>A uc002iua.2 + 1 1562 c.1406C>A c.(1405-1407)GCA>GAA p.A469E uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 469 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 CTGGAAGGGGCAGAGATTAAC 0.498 10 30 --- --- --- --- PASS OR4D2 124538 broad.mit.edu 37 17 56247027 56247027 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:56247027G>A uc010wnp.1 + 1 11 c.11G>A c.(10-12)GGG>GAG p.G4E NM_001004707 NP_001004707 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 ATGGAAACAGGGAACCTCACG 0.488 25 96 --- --- --- --- PASS MPO 4353 broad.mit.edu 37 17 56349029 56349029 + Missense_Mutation SNP G A A rs145497027 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:56349029G>A uc002ivu.1 - 11 2194 c.2017C>T c.(2017-2019)CGG>TGG p.R673W NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 673 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) TCACCATCCCGGAGCTTCCTG 0.637 8 30 --- --- --- --- PASS CSHL1 1444 broad.mit.edu 37 17 61987801 61987801 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:61987801C>A uc002jda.1 - 3 347 c.285G>T c.(283-285)ATG>ATT p.M95I CSHL1_uc002jcz.1_Missense_Mutation_p.M72I|CSHL1_uc002jdb.1_Missense_Mutation_p.M1I|CSHL1_uc002jdc.1_Missense_Mutation_p.M12I|CSHL1_uc002jdd.1_Missense_Mutation_p.M33I|CSHL1_uc002jde.2_Missense_Mutation_p.W193L|CSHL1_uc002jdf.2_Missense_Mutation_p.M12I|CSHL1_uc002jdg.2_Missense_Mutation_p.W165L|CSHL1_uc002jdh.2_Missense_Mutation_p.M1I NM_022579 NP_072101 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 95 extracellular region hormone activity|metal ion binding 0 GCGTTTCCTCCATGTTGGAGG 0.557 34 86 --- --- --- --- PASS GH1 2688 broad.mit.edu 37 17 61995183 61995183 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:61995183G>A uc002jdj.2 - 4 455 c.393C>T c.(391-393)GCC>GCT p.A131A GH1_uc002jdi.2_Silent_p.A116A|GH1_uc002jdk.2_Silent_p.A91A|GH1_uc002jdl.2_Intron|GH1_uc002jdm.2_Intron|GH1_uc002jdn.2_Intron NM_000515 NP_000506 P01241 SOMA_HUMAN growth hormone 1 isoform 1 131 glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus extracellular space growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding 0 TGCTGTCAGAGGCGCCGTACA 0.617 20 50 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62049162 62049162 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:62049162C>A uc002jds.1 - 4 608 c.531G>T c.(529-531)CTG>CTT p.L177L NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 177 Helical; Name=S2 of repeat I; (Potential).|I. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) AGCCTCGGGCCAGTATCTTGA 0.612 7 14 --- --- --- --- PASS RGS9 8787 broad.mit.edu 37 17 63185418 63185418 + Silent SNP T C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:63185418T>C uc002jfe.2 + 10 779 c.669T>C c.(667-669)GTT>GTC p.V223V RGS9_uc010dem.2_Silent_p.V220V|RGS9_uc002jfd.2_Silent_p.V220V|RGS9_uc002jff.2_RNA|RGS9_uc002jfg.2_5'UTR NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 223 G protein gamma. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 AAACAGTCGTTGCTGTCAAAA 0.348 11 52 --- --- --- --- PASS UBE2O 63893 broad.mit.edu 37 17 74391933 74391933 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:74391933G>A uc002jrm.3 - 15 2884 c.2819C>T c.(2818-2820)TCT>TTT p.S940F UBE2O_uc002jrn.3_3'UTR|UBE2O_uc002jrl.3_Missense_Mutation_p.S544F NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 940 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 TTTCTTAAAAGAATGATTTGC 0.542 36 48 --- --- --- --- PASS ENGASE 64772 broad.mit.edu 37 17 77073871 77073871 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:77073871G>T uc002jwv.2 + 3 349 c.341G>T c.(340-342)CGC>CTC p.R114L ENGASE_uc002jwu.1_Missense_Mutation_p.R114L|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.2_5'Flank NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 114 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 CTGGCGTGTCGCCAGCCCCCT 0.582 16 42 --- --- --- --- PASS ENGASE 64772 broad.mit.edu 37 17 77079880 77079880 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr17:77079880A>T uc002jwv.2 + 10 1297 c.1289A>T c.(1288-1290)CAG>CTG p.Q430L ENGASE_uc002jww.2_Missense_Mutation_p.Q136L NM_001042573 NP_001036038 Q8NFI3 ENASE_HUMAN endo-beta-N-acetylglucosaminidase 430 cytosol mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity skin(1) 1 CTGAGCGCCCAGGAGATCCAG 0.662 19 64 --- --- --- --- PASS CDH2 1000 broad.mit.edu 37 18 25585835 25585835 + Silent SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:25585835T>A uc002kwg.2 - 6 1284 c.825A>T c.(823-825)ACA>ACT p.T275T CDH2_uc010xbn.1_Silent_p.T244T NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 275 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 CCTCAGGAACTGTCCCATTCC 0.388 54 87 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28923448 28923448 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:28923448G>A uc002kwp.2 + 12 1935 c.1723G>A c.(1723-1725)GGT>AGT p.G575S DSG1_uc010xbp.1_5'Flank NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 575 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGATTGTGGAGGTGCTCCTCG 0.478 17 94 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31324241 31324241 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:31324241C>T uc010dmg.1 + 12 4484 c.4429C>T c.(4429-4431)CAC>TAC p.H1477Y ASXL3_uc002kxq.2_Missense_Mutation_p.H1184Y NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 1477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 CATCGTTGACCACAGCACCAC 0.532 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 34 --- --- --- --- PASS ELP2 55250 broad.mit.edu 37 18 33722805 33722805 + Silent SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:33722805A>T uc002kzk.1 + 8 682 c.672A>T c.(670-672)CTA>CTT p.L224L ELP2_uc010xcg.1_Silent_p.L289L|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Silent_p.L198L|ELP2_uc010xch.1_Silent_p.L263L|ELP2_uc002kzn.1_Silent_p.L198L|ELP2_uc002kzo.1_Silent_p.L154L NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 224 WD 5. regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 ATCTTTTCCTAGCAAGCTGTT 0.264 7 33 --- --- --- --- PASS FHOD3 80206 broad.mit.edu 37 18 34322742 34322742 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:34322742C>A uc002kzt.1 + 18 3323 c.3226C>A c.(3226-3228)CAG>AAG p.Q1076K FHOD3_uc002kzs.1_Missense_Mutation_p.Q1093K|FHOD3_uc010dmz.1_Missense_Mutation_p.Q808K|FHOD3_uc010dnb.1_Missense_Mutation_p.Q72K NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1076 FH2. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding skin(3)|large_intestine(2)|breast(2)|ovary(1) 8 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AGGAATAGACCAGTTGGAGAA 0.388 31 142 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42530417 42530417 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:42530417G>A uc010dni.2 + 4 1408 c.1112G>A c.(1111-1113)GGT>GAT p.G371D NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 371 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AAAAGGGAAGGTTATTCCGCA 0.453 Schinzel-Giedion_syndrome 5 38 --- --- --- --- PASS PSTPIP2 9050 broad.mit.edu 37 18 43577752 43577752 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:43577752C>A uc002lbp.3 - 9 701 c.605G>T c.(604-606)CGA>CTA p.R202L PSTPIP2_uc002lbq.3_Missense_Mutation_p.R202L NM_024430 NP_077748 Q9H939 PPIP2_HUMAN proline-serine-threonine phosphatase interacting 202 membrane ovary(1) 1 CCACTCTTCTCGGACCTTATC 0.567 7 31 --- --- --- --- PASS TCEB3B 51224 broad.mit.edu 37 18 44560078 44560078 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:44560078G>T uc002lcr.1 - 1 1911 c.1558C>A c.(1558-1560)CCT>ACT p.P520T KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 520 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 TGGCAGGCAGGCCTGGAGCCC 0.617 14 65 --- --- --- --- PASS FECH 2235 broad.mit.edu 37 18 55221491 55221491 + Splice_Site SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:55221491C>A uc002lgq.3 - 9 1194 c.1077_splice c.e9+1 p.E359_splice FECH_uc002lgp.3_Splice_Site_p.E365_splice|FECH_uc002lgr.3_Splice_Site_p.E217_splice NM_000140 NP_000131 P22830 HEMH_HUMAN ferrochelatase isoform b precursor generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus mitochondrial inner membrane|mitochondrial matrix 2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding central_nervous_system(1) 1 Colorectal(73;0.227) GGTGCATTTACCTCCTTGGCT 0.373 27 121 --- --- --- --- PASS KIAA1468 57614 broad.mit.edu 37 18 59854895 59854895 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:59854895G>T uc002lil.2 + 1 372 c.157G>T c.(157-159)GGC>TGC p.G53C PIGN_uc002lii.3_5'Flank|PIGN_uc002lij.3_5'Flank|KIAA1468_uc002lik.1_Missense_Mutation_p.G53C|KIAA1468_uc010xel.1_Missense_Mutation_p.G53C NM_020854 NP_065905 Q9P260 K1468_HUMAN hypothetical protein LOC57614 53 binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1) 6 Colorectal(73;0.186) TGGCTCTGCGGGCTCGCTGTC 0.687 9 40 --- --- --- --- PASS TNFRSF11A 8792 broad.mit.edu 37 18 60028957 60028957 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:60028957G>A uc002lin.2 + 7 699 c.661G>A c.(661-663)GCG>ACG p.A221T TNFRSF11A_uc010dpv.2_Intron NM_003839 NP_003830 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, 221 Helical; (Potential). adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(2)|lung(1) 3 Colorectal(73;0.188) GCTTCTCTTCGCGTCTGTGGC 0.413 Paget_Disease_of_Bone 31 159 --- --- --- --- PASS PHLPP1 23239 broad.mit.edu 37 18 60609017 60609017 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:60609017G>C uc002lis.2 + 12 1669 c.1491G>C c.(1489-1491)GAG>GAC p.E497D NM_194449 NP_919431 O60346 PHLP1_HUMAN PH domain and leucine rich repeat protein 1009 apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol|membrane|nucleus metal ion binding|protein serine/threonine phosphatase activity 0 TTTCCGAAGAGACAAACAGTA 0.448 5 16 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61306466 61306466 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:61306466G>A uc002ljf.2 - 7 807 c.721C>T c.(721-723)CTA>TTA p.L241L SERPINB4_uc002lje.2_Silent_p.L220L|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 241 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 ATCATGCTTAGATCTTTGCCT 0.423 4 69 --- --- --- --- PASS SERPINB4 6318 broad.mit.edu 37 18 61310792 61310792 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:61310792G>C uc002ljf.2 - 2 106 c.20C>G c.(19-21)GCC>GGC p.A7G SERPINB4_uc002lje.2_Missense_Mutation_p.A7G|SERPINB4_uc002ljg.2_Intron NM_002974 NP_002965 P48594 SPB4_HUMAN serine (or cysteine) proteinase inhibitor, clade 7 immune response|regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity ovary(2)|lung(1) 3 CTTGGTGTTGGCTTCACTGAG 0.393 22 107 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76754395 76754395 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:76754395G>A uc002lmt.2 + 2 2404 c.2404G>A c.(2404-2406)GAG>AAG p.E802K SALL3_uc010dra.2_Missense_Mutation_p.E409K NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 802 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGACATGGACGAGAACTCCAT 0.677 4 13 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76754397 76754397 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:76754397G>A uc002lmt.2 + 2 2406 c.2406G>A c.(2404-2406)GAG>GAA p.E802E SALL3_uc010dra.2_Silent_p.E409E NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 802 DDDMDE -> NDNLDK (in Ref. 2; CAB65124). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACATGGACGAGAACTCCATGG 0.682 4 12 --- --- --- --- PASS SALL3 27164 broad.mit.edu 37 18 76755125 76755125 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr18:76755125C>A uc002lmt.2 + 2 3134 c.3134C>A c.(3133-3135)CCC>CAC p.P1045H SALL3_uc010dra.2_Missense_Mutation_p.P580H NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 1045 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) GCTCTAGGTCCCAGCCAAAGC 0.537 5 36 --- --- --- --- PASS FAM108A1 81926 broad.mit.edu 37 19 1881263 1881263 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:1881263G>A uc002lug.2 - 2 709 c.303C>T c.(301-303)TGC>TGT p.C101C FAM108A1_uc002lud.2_Silent_p.C101C|FAM108A1_uc002lue.2_Silent_p.C101C|FAM108A1_uc002luf.2_Silent_p.C101C NM_001130111 NP_001123583 Q96GS6 F18A1_HUMAN hypothetical protein LOC81926 isoform 2 101 extracellular region hydrolase activity 0 Ovarian(11;0.000137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAACATACATGCAGGAGACGC 0.662 5 31 --- --- --- --- PASS THOP1 7064 broad.mit.edu 37 19 2799758 2799758 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:2799758G>C uc002lwj.2 + 5 713 c.558G>C c.(556-558)ACG>ACC p.T186T THOP1_uc010xgz.1_Silent_p.T65T NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 186 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGAGGACACGACCTTCCTGC 0.612 3 33 --- --- --- --- PASS ZNRF4 148066 broad.mit.edu 37 19 5456269 5456269 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:5456269G>C uc002mca.3 + 1 844 c.767G>C c.(766-768)TGG>TCG p.W256S NM_181710 NP_859061 Q8WWF5 ZNRF4_HUMAN zinc and ring finger 4 precursor 256 Helical; (Potential). integral to membrane zinc ion binding large_intestine(2) 2 UCEC - Uterine corpus endometrioid carcinoma (162;0.0002) ACCGTGTCCTGGGTGCTGGGC 0.682 10 23 --- --- --- --- PASS ZNF121 7675 broad.mit.edu 37 19 9677404 9677404 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:9677404T>A uc010xkp.1 - 4 617 c.385A>T c.(385-387)ACA>TCA p.T129S ZNF121_uc010dwt.2_Missense_Mutation_p.T129S|ZNF121_uc010xkq.1_Missense_Mutation_p.T129S NM_001008727 NP_001008727 P58317 ZN121_HUMAN zinc finger protein 121 129 C2H2-type 2; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GCATGGCTTGTGGAGTAAGTA 0.368 10 27 --- --- --- --- PASS ZNF763 284390 broad.mit.edu 37 19 12089327 12089327 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:12089327G>T uc002msw.2 + 4 743 c.588G>T c.(586-588)GGG>GGT p.G196G ZNF763_uc010xmf.1_Silent_p.G216G|ZNF763_uc002msv.2_Silent_p.G199G|ZNF763_uc010xmg.1_Silent_p.G74G NM_001012753 NP_001012771 Q0D2J5 ZN763_HUMAN zinc finger protein 763 196 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TGCACAGTGGGGATGGACCTT 0.403 64 58 --- --- --- --- PASS SYCE2 256126 broad.mit.edu 37 19 13011312 13011312 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:13011312C>T uc002mvr.2 - 4 472 c.457G>A c.(457-459)GTG>ATG p.V153M NM_001105578 NP_001099048 Q6PIF2 SYCE2_HUMAN synaptonemal complex central element protein 2 153 cell division central element 0 ACAGTCTCCACGCTGTGGCAG 0.527 11 48 --- --- --- --- PASS RASAL3 64926 broad.mit.edu 37 19 15574963 15574963 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:15574963C>A uc002nbe.2 - 2 293 c.207G>T c.(205-207)CGG>CGT p.R69R NM_022904 NP_075055 Q86YV0 RASL3_HUMAN RAS protein activator like 3 69 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity 0 CAGATAGGACCCGACGGAATA 0.682 24 10 --- --- --- --- PASS OR10H2 26538 broad.mit.edu 37 19 15839146 15839146 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:15839146C>A uc002nbm.2 + 1 313 c.293C>A c.(292-294)GCC>GAC p.A98D NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 98 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) CTGGCCTGTGCCAGTCAGATG 0.632 27 33 --- --- --- --- PASS ABHD8 79575 broad.mit.edu 37 19 17405196 17405196 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:17405196G>A uc002ngb.3 - 4 1290 c.1050C>T c.(1048-1050)GGC>GGT p.G350G NM_024527 NP_078803 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 350 hydrolase activity 0 AGACCTCGTCGCCCTCGGGCC 0.612 9 108 --- --- --- --- PASS ZNF430 80264 broad.mit.edu 37 19 21240824 21240824 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:21240824G>A uc002npj.2 + 5 1820 c.1710G>A c.(1708-1710)ATG>ATA p.M570I ZNF430_uc002npk.2_Missense_Mutation_p.M569I NM_025189 NP_079465 Q9H8G1 ZN430_HUMAN zinc finger protein 430 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2) 2 CCCTACAAATGTGAAGATTGT 0.393 15 16 --- --- --- --- PASS ZNF98 148198 broad.mit.edu 37 19 22574527 22574527 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:22574527G>T uc002nqt.2 - 4 1632 c.1510C>A c.(1510-1512)CAC>AAC p.H504N NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 504 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTAGTAAGGTGTGAGGACTGG 0.383 94 37 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22952052 22952052 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:22952052C>T uc010xrh.1 - 2 141 c.141G>A c.(139-141)CAG>CAA p.Q47Q NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TATATAAATTCTGCTGAGCCA 0.383 80 39 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 31039578 31039578 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:31039578C>G uc002nsu.1 + 4 3190 c.3052C>G c.(3052-3054)CTT>GTT p.L1018V ZNF536_uc010edd.1_Missense_Mutation_p.L1018V NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1018 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GCTCATGGCCCTTCATCTCCA 0.572 56 18 --- --- --- --- PASS GPATCH1 55094 broad.mit.edu 37 19 33587209 33587209 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:33587209G>T uc002nug.1 + 7 1023 c.709G>T c.(709-711)GCT>TCT p.A237S NM_018025 NP_060495 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 237 catalytic step 2 spliceosome nucleic acid binding skin(1) 1 Esophageal squamous(110;0.137) GCATGGTCTAGCTTACAAGGG 0.463 117 78 --- --- --- --- PASS ZNF569 148266 broad.mit.edu 37 19 37905157 37905157 + Missense_Mutation SNP T G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:37905157T>G uc002ogi.2 - 6 961 c.403A>C c.(403-405)AAT>CAT p.N135H ZNF569_uc002ogh.2_5'UTR|ZNF569_uc002ogj.2_Missense_Mutation_p.N159H NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TCATAGAGATTGTGTCTGGAA 0.313 56 47 --- --- --- --- PASS RASGRP4 115727 broad.mit.edu 37 19 38912755 38912755 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:38912755C>A uc002oir.2 - 2 276 c.62G>T c.(61-63)CGA>CTA p.R21L RASGRP4_uc010efz.1_5'Flank|RASGRP4_uc010ega.1_5'Flank|RASGRP4_uc010xua.1_Missense_Mutation_p.R21L|RASGRP4_uc010xub.1_Missense_Mutation_p.R21L|RASGRP4_uc010xuc.1_Missense_Mutation_p.R21L|RASGRP4_uc010xud.1_Missense_Mutation_p.R21L|RASGRP4_uc010xue.1_Missense_Mutation_p.R21L|RASGRP4_uc010egb.2_Missense_Mutation_p.R21L NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 21 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GGGCCGGCCTCGCCCTCCTAT 0.617 22 15 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 39019676 39019676 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:39019676G>T uc002oit.2 + 76 11250 c.11120G>T c.(11119-11121)CGC>CTC p.R3707L RYR1_uc002oiu.2_Missense_Mutation_p.R3702L|RYR1_uc002oiv.1_Missense_Mutation_p.R622L|RYR1_uc010xuf.1_Missense_Mutation_p.R627L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 3707 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CACTTCAGCCGCACTGCCCTG 0.522 9 13 --- --- --- --- PASS CYP2A6 1548 broad.mit.edu 37 19 41354554 41354554 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:41354554G>A uc002opl.3 - 3 479 c.458C>T c.(457-459)GCG>GTG p.A153V CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 153 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GAGGAAGCCCGCCTCCTCCTG 0.706 5 62 --- --- --- --- PASS CCDC97 90324 broad.mit.edu 37 19 41825636 41825636 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:41825636C>T uc002oqg.2 + 3 782 c.660C>T c.(658-660)CTC>CTT p.L220L CYP2F1_uc010xvw.1_Intron NM_052848 NP_443080 Q96F63 CCD97_HUMAN coiled-coil domain containing 97 220 0 CTTGCCCGCTCTCCAACTTGC 0.522 35 19 --- --- --- --- PASS PSG8 440533 broad.mit.edu 37 19 43258691 43258691 + Nonsense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:43258691G>T uc002ouo.2 - 5 1135 c.1037C>A c.(1036-1038)TCA>TAA p.S346* PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Nonsense_Mutation_p.S185*|PSG8_uc002ouh.2_Nonsense_Mutation_p.S346*|PSG8_uc010ein.2_Nonsense_Mutation_p.S224*|PSG8_uc002ouj.3_Nonsense_Mutation_p.S128*|PSG8_uc002ouk.3_Nonsense_Mutation_p.S185*|PSG8_uc002oul.3_Nonsense_Mutation_p.S346*|PSG8_uc002oum.3_Nonsense_Mutation_p.S253*|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Nonsense_Mutation_p.S253* NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 346 Ig-like C2-type 3. extracellular region 0 Prostate(69;0.00899) GACTTCTCCTGAACGGTAATA 0.478 109 62 --- --- --- --- PASS PRKD2 25865 broad.mit.edu 37 19 47192836 47192836 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:47192836C>A uc002pfh.2 - 15 2271 c.1929G>T c.(1927-1929)AAG>AAT p.K643N PRKD2_uc002pfd.2_Missense_Mutation_p.K17N|PRKD2_uc010eks.2_Missense_Mutation_p.K46N|PRKD2_uc010ekt.2_Translation_Start_Site|PRKD2_uc002pfe.2_Missense_Mutation_p.K163N|PRKD2_uc002pff.2_Missense_Mutation_p.K163N|PRKD2_uc002pfg.2_Missense_Mutation_p.K486N|PRKD2_uc002pfi.2_Missense_Mutation_p.K643N|PRKD2_uc002pfj.2_Missense_Mutation_p.K643N|PRKD2_uc010xye.1_Missense_Mutation_p.K643N|PRKD2_uc002pfk.2_Missense_Mutation_p.K486N NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 643 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) GCAGCCGGCCCTTCTCACTGG 0.602 15 11 --- --- --- --- PASS ZC3H4 23211 broad.mit.edu 37 19 47575179 47575179 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:47575179C>A uc002pga.3 - 13 2040 c.2002G>T c.(2002-2004)GGC>TGC p.G668C ZC3H4_uc002pgb.1_Intron NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 668 Pro-rich. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) ATTGGAGGGCCGCCAGGGCCC 0.438 19 9 --- --- --- --- PASS SLC8A2 6543 broad.mit.edu 37 19 47951365 47951365 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:47951365G>A uc002pgx.2 - 4 1742 c.1464C>T c.(1462-1464)GGC>GGT p.G488G SLC8A2_uc010xyq.1_Silent_p.G244G|SLC8A2_uc010xyr.1_Intron|SLC8A2_uc010ele.2_Silent_p.G488G NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 488 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTGCGCGTCGCCCACGCGCA 0.692 6 12 --- --- --- --- PASS CGB7 94027 broad.mit.edu 37 19 49557609 49557609 + Missense_Mutation SNP G T T rs138708969 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:49557609G>T uc002pmd.2 - 3 802 c.437C>A c.(436-438)CCC>CAC p.P146H CGB_uc010yad.1_Intron|CGB8_uc002pmc.2_Intron|CGB7_uc002pme.2_Missense_Mutation_p.P146H NM_033142 NP_149133 P01233 CGHB_HUMAN chorionic gonadotropin, beta polypeptide 7 146 apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction extracellular region|soluble fraction hormone activity 0 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Choriogonadotropin alfa(DB00097) TGGAAGGCTGGGGGGAGGGGC 0.642 31 35 --- --- --- --- PASS CD37 951 broad.mit.edu 37 19 49842171 49842171 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:49842171C>A uc002pnd.2 + 6 783 c.662C>A c.(661-663)GCA>GAA p.A221E uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.A221E|CD37_uc010yan.1_Missense_Mutation_p.A153E|CD37_uc002pnf.3_Missense_Mutation_p.A193E|CD37_uc002pne.2_Missense_Mutation_p.A153E NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 221 Extracellular (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GCTGTCCCTGCAGAGAGCCAC 0.622 25 20 --- --- --- --- PASS LRRC4B 94030 broad.mit.edu 37 19 51021570 51021570 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:51021570C>A uc002pss.2 - 3 1537 c.1400G>T c.(1399-1401)GGC>GTC p.G467V NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 467 Gly-rich.|Extracellular (Potential). cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) gccgcccccgccgctgccggt 0.408 11 11 --- --- --- --- PASS SYT3 84258 broad.mit.edu 37 19 51128529 51128529 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:51128529C>A uc002pst.2 - 7 2231 c.1597G>T c.(1597-1599)GGC>TGC p.G533C SYT3_uc002psv.2_Missense_Mutation_p.G533C|SYT3_uc010ycd.1_Missense_Mutation_p.G533C NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN synaptotagmin III 533 C2 2.|Cytoplasmic (Potential). cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(2)|breast(1) 3 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) CGGCACACGCCGATCACCTCG 0.687 4 5 --- --- --- --- PASS KLK11 11012 broad.mit.edu 37 19 51527457 51527457 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:51527457G>A uc002pvd.1 - 4 515 c.403C>T c.(403-405)CCC>TCC p.P135S KLK11_uc002pvb.1_Missense_Mutation_p.P128S|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvf.1_Missense_Mutation_p.P103S|KLK11_uc002pvc.3_Missense_Mutation_p.P103S|KLK11_uc010eom.2_3'UTR NM_144947 NP_659196 Q9UBX7 KLK11_HUMAN kallikrein 11 isoform 2 precursor 135 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878) TCTTTGTTGGGGAGGCTGTTG 0.607 42 33 --- --- --- --- PASS SIGLEC10 89790 broad.mit.edu 37 19 51918210 51918210 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:51918210T>A uc002pwo.2 - 8 2099 c.1483A>T c.(1483-1485)ACC>TCC p.T495S SIGLEC10_uc002pwp.2_Missense_Mutation_p.T437S|SIGLEC10_uc002pwq.2_Intron|SIGLEC10_uc002pwr.2_Intron|SIGLEC10_uc010ycy.1_Intron|SIGLEC10_uc010ycz.1_Intron|SIGLEC10_uc010eow.2_Intron|SIGLEC10_uc002pws.1_Intron NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 495 Extracellular (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) GAGCTGGGGGTGACCTCGAAG 0.701 29 22 --- --- --- --- PASS HAS1 3036 broad.mit.edu 37 19 52217094 52217094 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:52217094C>A uc002pxo.1 - 5 1358 c.1323G>T c.(1321-1323)GTG>GTT p.V441V HAS1_uc010epc.1_Silent_p.V41V|HAS1_uc010epd.1_3'UTR|HAS1_uc002pxn.1_Silent_p.V448V|HAS1_uc002pxp.1_Silent_p.V440V NM_001523 NP_001514 Q92839 HAS1_HUMAN hyaluronan synthase 1 441 Helical; Name=4; (Potential). cell adhesion integral to plasma membrane hyaluronan synthase activity|protein binding ovary(1)|pancreas(1) 2 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGGCCAGTGCCACGCCCTGCA 0.701 20 10 --- --- --- --- PASS ZNF611 81856 broad.mit.edu 37 19 53208581 53208581 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:53208581C>A uc002pzz.2 - 7 2044 c.1727G>T c.(1726-1728)AGT>ATT p.S576I ZNF611_uc010eqc.2_Missense_Mutation_p.S506I|ZNF611_uc010ydo.1_Missense_Mutation_p.S506I|ZNF611_uc010ydr.1_Missense_Mutation_p.S507I|ZNF611_uc010ydp.1_Missense_Mutation_p.S576I|ZNF611_uc010ydq.1_Missense_Mutation_p.S576I|ZNF611_uc002qaa.3_Missense_Mutation_p.S506I NM_030972 NP_112234 Q8N823 ZN611_HUMAN zinc finger protein 611 isoform a 576 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TGACCTGTGACTGAAGGTCTT 0.433 216 115 --- --- --- --- PASS ZNF667 63934 broad.mit.edu 37 19 56953880 56953880 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:56953880G>A uc002qnd.2 - 5 646 c.484C>T c.(484-486)CAT>TAT p.H162Y ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.H162Y|ZNF667_uc010etm.2_Missense_Mutation_p.H105Y NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 162 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) ATGTTCTGATGAAGTTTAAGA 0.373 102 54 --- --- --- --- PASS ZNF543 125919 broad.mit.edu 37 19 57840469 57840469 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr19:57840469G>C uc002qoi.1 + 4 1984 c.1639G>C c.(1639-1641)GGC>CGC p.G547R NM_213598 NP_998763 Q08ER8 ZN543_HUMAN zinc finger protein 543 547 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1)|pancreas(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TTTTAATCGCGGCTCATCCCT 0.463 37 40 --- --- --- --- PASS TCF15 6939 broad.mit.edu 37 20 590488 590488 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:590488C>A uc002wdz.2 - 1 423 c.394G>T c.(394-396)GAC>TAC p.D132Y NM_004609 NP_004600 Q12870 TCF15_HUMAN basic helix-loop-helix transcription factor 15 132 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(17;0.231) TCGGCCGAGTCGCCCAGCAGC 0.542 3 5 --- --- --- --- PASS TCF15 6939 broad.mit.edu 37 20 590489 590489 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:590489G>C uc002wdz.2 - 1 422 c.393C>G c.(391-393)GGC>GGG p.G131G NM_004609 NP_004600 Q12870 TCF15_HUMAN basic helix-loop-helix transcription factor 15 131 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Breast(17;0.231) CGGCCGAGTCGCCCAGCAGCA 0.537 3 5 --- --- --- --- PASS SIRPB1 10326 broad.mit.edu 37 20 1552405 1552405 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:1552405G>A uc010gai.2 - 3 811 c.712C>T c.(712-714)CCT>TCT p.P238S SIRPB1_uc002wfk.3_Intron NM_006065 NP_006056 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 isoform 1 238 Ig-like C1-type 1.|Extracellular (Potential). cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding ovary(1) 1 CCACGAAGAGGGTCCCCCTGC 0.617 31 25 --- --- --- --- PASS CENPB 1059 broad.mit.edu 37 20 3766827 3766827 + Nonsense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:3766827C>A uc002wjk.2 - 1 511 c.304G>T c.(304-306)GAG>TAG p.E102* CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 102 HTH CENPB-type.|H-T-H motif. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 AGCGCCTTCTCCTTGAGGATG 0.667 26 40 --- --- --- --- PASS PAK7 57144 broad.mit.edu 37 20 9523318 9523318 + Missense_Mutation SNP T G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:9523318T>G uc002wnl.2 - 10 2464 c.1919A>C c.(1918-1920)GAG>GCG p.E640A PAK7_uc002wnk.2_Missense_Mutation_p.E640A|PAK7_uc002wnj.2_Missense_Mutation_p.E640A|PAK7_uc010gby.1_Intron NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 640 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GTAGGGGGGCTCGCCATCAAT 0.527 35 42 --- --- --- --- PASS NKX2-4 644524 broad.mit.edu 37 20 21376611 21376611 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:21376611C>A uc010gcz.2 - 2 1013 c.1003G>T c.(1003-1005)GCC>TCC p.A335S NM_033176 NP_149416 Q9H2Z4 NKX24_HUMAN NK2 homeobox 4 335 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Tccccggcggccgcgtccagg 0.577 4 12 --- --- --- --- PASS KIF3B 9371 broad.mit.edu 37 20 30898728 30898728 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:30898728G>C uc002wxq.2 + 2 1315 c.1148G>C c.(1147-1149)CGG>CCG p.R383P KIF3B_uc010ztv.1_Intron|KIF3B_uc010ztw.1_Intron NM_004798 NP_004789 O15066 KIF3B_HUMAN kinesin family member 3B 383 Potential. anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding central_nervous_system(3)|ovary(2) 5 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CGAGAGAAGCGGAGGGAAGGT 0.443 5 19 --- --- --- --- PASS SUN5 140732 broad.mit.edu 37 20 31592074 31592074 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:31592074G>T uc002wyi.2 - 1 166 c.73C>A c.(73-75)CGG>AGG p.R25R NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 25 spermatogenesis skin(1) 1 CCTCACCTCCGGGGTCTGGGA 0.358 2 3 --- --- --- --- PASS C20orf114 92747 broad.mit.edu 37 20 31894774 31894774 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:31894774C>A uc002wyw.1 + 15 1537 c.1376C>A c.(1375-1377)GCT>GAT p.A459D C20orf114_uc002wyx.1_RNA NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 459 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 TTCGAGGCAGCTGAGTCCTCA 0.463 22 61 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33874999 33874999 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:33874999G>A uc010zux.1 - 4 1701 c.1583C>T c.(1582-1584)ACC>ATC p.T528I EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Missense_Mutation_p.T183I NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 528 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) TGAGTTGGGGGTAACCCCAGA 0.647 13 45 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33875022 33875022 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:33875022C>T uc010zux.1 - 4 1678 c.1560G>A c.(1558-1560)GTG>GTA p.V520V EIF6_uc002xbv.1_5'Flank|EIF6_uc002xbx.1_5'Flank|EIF6_uc002xbz.1_5'Flank|EIF6_uc002xby.1_5'Flank|FAM83C_uc002xcb.1_Silent_p.V175V NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 520 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) CAGGGTCTCCCACTTCTCGGG 0.642 16 46 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33876313 33876313 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:33876313C>T uc010zux.1 - 3 875 c.757G>A c.(757-759)GAG>AAG p.E253K FAM83C_uc002xcb.1_Missense_Mutation_p.E77K NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 253 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) ACGAACTTCTCCAGGGCCTGC 0.632 10 41 --- --- --- --- PASS PHF20 51230 broad.mit.edu 37 20 34430532 34430532 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:34430532G>C uc002xek.1 + 3 232 c.121G>C c.(121-123)GGA>CGA p.G41R PHF20_uc002xei.1_Missense_Mutation_p.G41R|PHF20_uc010gfo.1_Missense_Mutation_p.G41R|PHF20_uc002xej.1_5'UTR|PHF20_uc002xel.1_5'UTR NM_016436 NP_057520 Q9BVI0 PHF20_HUMAN PHD finger protein 20 41 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding ovary(1) 1 Breast(12;0.00631)|all_lung(11;0.0145) CTACGAGGAAGGAAAAGTACT 0.403 6 118 --- --- --- --- PASS LBP 3929 broad.mit.edu 37 20 36989406 36989406 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:36989406C>A uc002xic.1 + 6 672 c.637C>A c.(637-639)CTC>ATC p.L213I NM_004139 NP_004130 P18428 LBP_HUMAN lipopolysaccharide-binding protein precursor 213 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) ACAGCCTTATCTCCAAACTCT 0.418 26 93 --- --- --- --- PASS CHD6 84181 broad.mit.edu 37 20 40102043 40102043 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:40102043C>A uc002xka.1 - 17 2761 c.2583G>T c.(2581-2583)GCG>GCT p.A861A CHD6_uc002xkd.2_Silent_p.A839A NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 861 Helicase C-terminal. 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) CCAGGCCTCCCGCTCTGGTGC 0.517 12 32 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40739007 40739007 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:40739007G>A uc002xkg.2 - 23 3404 c.3220C>T c.(3220-3222)CCC>TCC p.P1074S PTPRT_uc010ggj.2_Missense_Mutation_p.P1093S|PTPRT_uc010ggi.2_Missense_Mutation_p.P277S NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1074 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GCTTCCGGGGGGTTGAGGAAC 0.468 7 30 --- --- --- --- PASS PTPRT 11122 broad.mit.edu 37 20 40827935 40827935 + Missense_Mutation SNP G T T rs145661499 by1000genomes TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:40827935G>T uc002xkg.2 - 16 2620 c.2436C>A c.(2434-2436)AGC>AGA p.S812R PTPRT_uc010ggj.2_Missense_Mutation_p.S831R|PTPRT_uc010ggi.2_Missense_Mutation_p.S15R NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 812 Cytoplasmic (Potential). homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) TGCGGCTGGCGCTGAGCTTGG 0.577 76 193 --- --- --- --- PASS SERINC3 10955 broad.mit.edu 37 20 43135617 43135617 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:43135617C>A uc002xme.2 - 6 768 c.634G>T c.(634-636)GCC>TCC p.A212S SERINC3_uc002xmf.1_Missense_Mutation_p.A212S|SERINC3_uc010ggs.1_Missense_Mutation_p.A205S|SERINC3_uc010zwp.1_Missense_Mutation_p.A157S NM_198941 NP_945179 Q13530 SERC3_HUMAN tumor differentially expressed protein 1 212 Helical; (Potential). integral to membrane|plasma membrane protein binding skin(3) 3 Myeloproliferative disorder(115;0.0122) Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189) ATATAAAAGGCGCTTGTGAAA 0.378 11 30 --- --- --- --- PASS UBE2C 11065 broad.mit.edu 37 20 44444350 44444350 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:44444350G>T uc002xpm.2 + 4 467 c.387G>T c.(385-387)AGG>AGT p.R129S UBE2C_uc002xpl.2_Intron|UBE2C_uc002xpn.2_Missense_Mutation_p.R90S|UBE2C_uc002xpo.2_Missense_Mutation_p.R100S|UBE2C_uc002xpp.2_Intron|UBE2C_uc002xpq.2_Missense_Mutation_p.R90S NM_007019 NP_008950 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C isoform 1 129 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity 0 Myeloproliferative disorder(115;0.0122) ATGATGTCAGGACCATTCTGC 0.552 25 74 --- --- --- --- PASS MMP9 4318 broad.mit.edu 37 20 44642296 44642296 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:44642296G>T uc002xqz.2 + 10 1630 c.1611G>T c.(1609-1611)GGG>GGT p.G537G NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 537 Hemopexin-like 1. 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) GCTTTCTCAGGAAGTACTGGC 0.677 OREG0025990 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 21 --- --- --- --- PASS SLC12A5 57468 broad.mit.edu 37 20 44666000 44666000 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:44666000C>A uc010zxl.1 + 6 733 c.657C>A c.(655-657)ATC>ATA p.I219I SLC12A5_uc002xra.2_Silent_p.I196I|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.I196I NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 219 Helical; (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCATGTACATCCTGGGCACCA 0.473 8 24 --- --- --- --- PASS B4GALT5 9334 broad.mit.edu 37 20 48252856 48252856 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:48252856T>A uc002xuu.3 - 9 1354 c.1160A>T c.(1159-1161)GAG>GTG p.E387V NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 387 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) CTCTCAGTACTCGTTCACCTG 0.478 4 59 --- --- --- --- PASS GNAS 2778 broad.mit.edu 37 20 57415487 57415487 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:57415487A>G uc002xzt.2 + 1 693 c.326A>G c.(325-327)TAC>TGC p.Y109C GNASAS_uc002xzs.1_Intron|GNAS_uc002xzu.3_5'Flank|GNAS_uc010gjq.2_5'Flank NM_016592 NP_057676 P63092 GNAS2_HUMAN GNAS complex locus NESP55 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) GAGTTCGACTACGAGACCGAG 0.617 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 3 88 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60348181 60348181 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:60348181C>G uc002ybn.1 + 4 533 c.519C>G c.(517-519)ATC>ATG p.I173M CDH4_uc002ybp.1_Missense_Mutation_p.I99M NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 173 Cadherin 1.|Extracellular (Potential). adherens junction organization|cell junction assembly calcium ion binding lung(3)|ovary(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) ACTGGGTCATCCCGCCCATCA 0.706 5 16 --- --- --- --- PASS SLCO4A1 28231 broad.mit.edu 37 20 61291766 61291766 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:61291766C>T uc002ydb.1 + 4 1095 c.890C>T c.(889-891)ACG>ATG p.T297M SLCO4A1_uc002ydc.1_RNA NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 297 Extracellular (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) TTCCACAGGACGGAGCTGACC 0.687 20 19 --- --- --- --- PASS YTHDF1 54915 broad.mit.edu 37 20 61833927 61833927 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:61833927G>A uc002yeh.2 - 4 1659 c.1365C>T c.(1363-1365)CCC>CCT p.P455P YTHDF1_uc011aaq.1_Silent_p.P405P NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN YTH domain family, member 1 455 YTH. ovary(2) 2 CGTAGTCCACGGGGGACTTCA 0.567 10 76 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62192207 62192207 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr20:62192207G>A uc002yfm.2 - 16 8114 c.7222C>T c.(7222-7224)CGG>TGG p.R2408W PRIC285_uc002yfl.1_Missense_Mutation_p.R1839W NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2408 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) AACAGAGACCGGTCCAGACCC 0.637 9 63 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10933867 10933867 + Missense_Mutation SNP A T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr21:10933867A>T uc002yip.1 - 17 1380 c.1012T>A c.(1012-1014)TGT>AGT p.C338S TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.C320S|TPTE_uc002yir.1_Missense_Mutation_p.C300S|TPTE_uc010gkv.1_Missense_Mutation_p.C200S NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 338 Phosphatase tensin-type. Potential. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTCCTTTACAGTGAATCGCT 0.328 33 164 --- --- --- --- PASS KRTAP27-1 643812 broad.mit.edu 37 21 31709432 31709432 + Silent SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr21:31709432G>T uc002ynx.1 - 1 581 c.555C>A c.(553-555)CTC>CTA p.L185L NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 185 intermediate filament ovary(2) 2 AAGATTCCAGGAGTTGTGGCT 0.468 20 31 --- --- --- --- PASS KRTAP21-2 337978 broad.mit.edu 37 21 32119426 32119426 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr21:32119426C>A uc011adh.1 - 1 95 c.95G>T c.(94-96)GGA>GTA p.G32V NM_181617 NP_853648 Q3LI59 KR212_HUMAN keratin associated protein 21-2 32 intermediate filament 0 agagccgtatccacagccata 0.095 17 26 --- --- --- --- PASS SFRS15 57466 broad.mit.edu 37 21 33044451 33044451 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr21:33044451G>T uc002ypd.2 - 20 3131 c.2705C>A c.(2704-2706)CCT>CAT p.P902H SFRS15_uc002ype.2_Missense_Mutation_p.P880H|SFRS15_uc010glu.2_Missense_Mutation_p.P887H NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 902 nucleus nucleotide binding|RNA binding 0 CATTCCATGAGGTGGAGGCAT 0.652 14 25 --- --- --- --- PASS KRTAP12-3 386683 broad.mit.edu 37 21 46078055 46078055 + Silent SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr21:46078055C>A uc002zft.2 + 1 207 c.159C>A c.(157-159)TCC>TCA p.S53S C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198697 NP_941970 P60328 KR123_HUMAN keratin associated protein 12-3 53 7.|14 X 5 AA approximate repeats. intermediate filament central_nervous_system(1) 1 GCCAGCCCTCCGTGTGCGTGC 0.652 21 48 --- --- --- --- PASS HIRA 7290 broad.mit.edu 37 22 19384447 19384447 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:19384447G>A uc002zpf.1 - 7 737 c.517C>T c.(517-519)CAT>TAT p.H173Y HIRA_uc011agx.1_Missense_Mutation_p.H39Y|HIRA_uc010grn.1_Missense_Mutation_p.H173Y|HIRA_uc010gro.1_Missense_Mutation_p.H129Y|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 173 WD 4. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) AAGCCAGAATGACCTCTCAGA 0.488 11 51 --- --- --- --- PASS CDC45 8318 broad.mit.edu 37 22 19502550 19502550 + Silent SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:19502550G>C uc002zpr.2 + 15 1495 c.1419G>C c.(1417-1419)CTG>CTC p.L473L CDC45_uc011agz.1_3'UTR|CDC45_uc011aha.1_Silent_p.L505L|CDC45_uc002zps.2_Silent_p.L473L|CDC45_uc002zpt.2_Silent_p.L427L NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 473 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 GCAAACACCTGCTCAAGTCCT 0.607 8 22 --- --- --- --- PASS ZNF74 7625 broad.mit.edu 37 22 20760522 20760522 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:20760522A>G uc010gsm.2 + 6 1411 c.1199A>G c.(1198-1200)CAC>CGC p.H400R ZNF74_uc002zsg.2_Missense_Mutation_p.H329R|ZNF74_uc002zsh.2_Missense_Mutation_p.H400R|ZNF74_uc002zsi.2_Missense_Mutation_p.H329R|ZNF74_uc010gsn.2_Missense_Mutation_p.H329R NM_003426 NP_003417 Q16587 ZNF74_HUMAN zinc finger protein 74 400 C2H2-type 6. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding ovary(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) TTCACCTGCCACTCATCCCTC 0.632 9 39 --- --- --- --- PASS GNAZ 2781 broad.mit.edu 37 22 23438181 23438181 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:23438181G>T uc002zwu.1 + 2 836 c.299G>T c.(298-300)CGC>CTC p.R100L RTDR1_uc002zwt.2_Intron NM_002073 NP_002064 P19086 GNAZ_HUMAN guanine nucleotide binding protein, alpha z 100 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity kidney(1)|skin(1) 2 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) AACCCCGACCGCGCCTACGAC 0.647 41 121 --- --- --- --- PASS MYO18B 84700 broad.mit.edu 37 22 26422991 26422991 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:26422991T>A uc003abz.1 + 43 7301 c.7051T>A c.(7051-7053)TGC>AGC p.C2351S MYO18B_uc003aca.1_Missense_Mutation_p.C2232S|MYO18B_uc010guy.1_Missense_Mutation_p.C2233S|MYO18B_uc010guz.1_Missense_Mutation_p.C2231S|MYO18B_uc011aka.1_Missense_Mutation_p.C1505S|MYO18B_uc011akb.1_Missense_Mutation_p.C1864S|MYO18B_uc010gva.1_Missense_Mutation_p.C334S|MYO18B_uc010gvb.1_RNA NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2351 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 ATTCAGTTCCTGCGAGTCCCT 0.562 16 65 --- --- --- --- PASS C1QTNF6 114904 broad.mit.edu 37 22 37581315 37581315 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:37581315C>A uc003aqw.1 - 1 680 c.175G>T c.(175-177)GGC>TGC p.G59C C1QTNF6_uc003aqx.1_Missense_Mutation_p.G78C|C1QTNF6_uc003aqy.1_Missense_Mutation_p.G78C|C1QTNF6_uc003aqz.1_RNA NM_182486 NP_872292 Q9BXI9 C1QT6_HUMAN C1q and tumor necrosis factor related protein 6 59 collagen 0 TGGGGGCGGCCGGAGGAAGAG 0.632 13 17 --- --- --- --- PASS MCHR1 2847 broad.mit.edu 37 22 41077845 41077845 + Silent SNP G T T rs139064474 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr22:41077845G>T uc003ayz.2 + 2 1450 c.1182G>T c.(1180-1182)TCG>TCT p.S394S MCHR1_uc003aza.2_Silent_p.S283S|uc003azb.1_RNA NM_005297 NP_005288 Q99705 MCHR1_HUMAN G protein-coupled receptor 24 394 Cytoplasmic (Potential). elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity 0 TGGTCCTGTCGGTGAAGCCTG 0.582 33 50 --- --- --- --- PASS FAM9B 171483 broad.mit.edu 37 X 8998330 8998330 + Missense_Mutation SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:8998330G>A uc011mhu.1 - 4 342 c.253C>T c.(253-255)CAT>TAT p.H85Y FAM9B_uc011mhv.1_RNA|FAM9B_uc004csh.2_Intron NM_205849 NP_995321 Q8IZU0 FAM9B_HUMAN family with sequence similarity 9, member B 85 nucleus 0 Hepatocellular(5;0.219) CTCAAAGCATGTTTACTTTTG 0.279 4 5 --- --- --- --- PASS DDX53 168400 broad.mit.edu 37 X 23018431 23018431 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:23018431A>G uc004daj.2 + 1 345 c.257A>G c.(256-258)AAC>AGC p.N86S NM_182699 NP_874358 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 86 KH. nucleus ATP binding|ATP-dependent helicase activity|RNA binding large_intestine(1)|ovary(1)|kidney(1) 3 CAGATCATAAACGGGGAATCT 0.338 7 16 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 31462722 31462722 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:31462722G>T uc004dda.1 - 60 9204 c.8960C>A c.(8959-8961)CCT>CAT p.P2987H DMD_uc004dcq.1_Missense_Mutation_p.P258H|DMD_uc004dcr.1_Missense_Mutation_p.P527H|DMD_uc004dcs.1_Missense_Mutation_p.P527H|DMD_uc004dct.1_Missense_Mutation_p.P527H|DMD_uc004dcu.1_Missense_Mutation_p.P527H|DMD_uc004dcv.1_Missense_Mutation_p.P527H|DMD_uc004dcw.2_Missense_Mutation_p.P1643H|DMD_uc004dcx.2_Missense_Mutation_p.P1646H|DMD_uc004dcz.2_Missense_Mutation_p.P2864H|DMD_uc004dcy.1_Missense_Mutation_p.P2983H|DMD_uc004ddb.1_Missense_Mutation_p.P2979H NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2987 Spectrin 22. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCTTTCAGAGGCGCAATTTC 0.458 38 19 --- --- --- --- PASS DMD 1756 broad.mit.edu 37 X 32408279 32408279 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:32408279G>C uc004dda.1 - 31 4497 c.4253C>G c.(4252-4254)ACA>AGA p.T1418R DMD_uc004dcw.2_Missense_Mutation_p.T74R|DMD_uc004dcx.2_Missense_Mutation_p.T77R|DMD_uc004dcz.2_Missense_Mutation_p.T1295R|DMD_uc004dcy.1_Missense_Mutation_p.T1414R|DMD_uc004ddb.1_Missense_Mutation_p.T1410R|DMD_uc010ngo.1_Intron NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 1418 Interaction with SYNM (By similarity). muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CTCATGACTTGTCAAATCAGA 0.388 35 15 --- --- --- --- PASS USP9X 8239 broad.mit.edu 37 X 41010252 41010252 + Missense_Mutation SNP G C C TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:41010252G>C uc004dfb.2 + 13 2338 c.1705G>C c.(1705-1707)GCA>CCA p.A569P USP9X_uc004dfc.2_Missense_Mutation_p.A569P NM_001039590 NP_001034679 Q93008 USP9X_HUMAN ubiquitin specific protease 9, X-linked isoform 569 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 GGTTATTCCCGCACTGAAACA 0.318 5 7 --- --- --- --- PASS DGKK 139189 broad.mit.edu 37 X 50119073 50119073 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:50119073C>G uc010njr.1 - 25 3424 c.3364G>C c.(3364-3366)GGC>CGC p.G1122R NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1122 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) CTGTCTTGGCCGTAAAATATA 0.433 7 6 --- --- --- --- PASS HUWE1 10075 broad.mit.edu 37 X 53674517 53674517 + Missense_Mutation SNP A G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:53674517A>G uc004dsp.2 - 6 547 c.145T>C c.(145-147)TGC>CGC p.C49R NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 49 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 TATAACTCGCACTGGAGAGGG 0.483 26 35 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54785033 54785033 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:54785033C>A uc004dtj.2 - 8 1504 c.1474G>T c.(1474-1476)GCC>TCC p.A492S NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 492 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GGGAAAACGGCCCAAGGGGAG 0.622 5 8 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54957141 54957141 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:54957141C>A uc004dtq.2 + 12 4091 c.3984C>A c.(3982-3984)GAC>GAA p.D1328E TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.D859E|TRO_uc004dtw.2_Missense_Mutation_p.D931E|TRO_uc004dtx.2_Missense_Mutation_p.D711E NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1328 52; approximate.|62 X 10 AA approximate tandem repeats. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 CCAGCTTCGACAGAGGACTGA 0.567 18 15 --- --- --- --- PASS FAM123B 139285 broad.mit.edu 37 X 63412889 63412889 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:63412889C>A uc004dvo.2 - 2 551 c.278G>T c.(277-279)AGC>ATC p.S93I NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 93 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 GTGGGTCTTGCTCTTGCTGAG 0.537 19 27 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70349258 70349258 + Missense_Mutation SNP C G G TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:70349258C>G uc004dyy.2 + 26 3869 c.3670C>G c.(3670-3672)CTC>GTC p.L1224V MED12_uc011mpq.1_Missense_Mutation_p.L1224V|MED12_uc004dyz.2_Missense_Mutation_p.L1224V|MED12_uc004dza.2_Missense_Mutation_p.L1071V|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1224 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GTTTGCTGTTCTCAAGGCTGT 0.562 OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 11 --- --- --- --- PASS PHKA1 5255 broad.mit.edu 37 X 71825207 71825207 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:71825207C>A uc004eax.3 - 25 3030 c.2729G>T c.(2728-2730)GGC>GTC p.G910V PHKA1_uc004eay.3_Missense_Mutation_p.G910V|PHKA1_uc011mqi.1_Missense_Mutation_p.G851V NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 910 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) AGCAAAGAGGCCAGGCTGGGT 0.423 14 16 --- --- --- --- PASS XIST 7503 broad.mit.edu 37 X 73065916 73065916 + RNA SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:73065916T>A uc004ebm.1 - 1 c.6673A>T NR_001564 Homo sapiens cDNA: FLJ21545 fis, clone COL06195. 0 GGGCACTCCCTGCCGGAAGGG 0.512 22 22 --- --- --- --- PASS HDX 139324 broad.mit.edu 37 X 83723923 83723923 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:83723923C>A uc004eek.1 - 3 917 c.808G>T c.(808-810)GTT>TTT p.V270F HDX_uc011mqv.1_Missense_Mutation_p.V270F|HDX_uc004eel.1_Missense_Mutation_p.V212F NM_144657 NP_653258 Q7Z353 HDX_HUMAN highly divergent homeobox 270 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity upper_aerodigestive_tract(1)|ovary(1) 2 TAATCGCTAACTGCCAATGAA 0.453 26 40 --- --- --- --- PASS ZNF711 7552 broad.mit.edu 37 X 84510709 84510709 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:84510709C>A uc004eeo.2 + 4 871 c.524C>A c.(523-525)GCA>GAA p.A175E ZNF711_uc004eep.2_Missense_Mutation_p.A175E|ZNF711_uc004eeq.2_Missense_Mutation_p.A175E NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 175 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 GTGATTCAAGCAGCTGGAGGT 0.403 19 30 --- --- --- --- PASS BTK 695 broad.mit.edu 37 X 100611048 100611048 + Silent SNP G T T rs128621201 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:100611048G>T uc004ehg.2 - 15 1751 c.1558C>A c.(1558-1560)CGA>AGA p.R520R BTK_uc004ehf.2_Silent_p.R20R|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_RNA|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.R90R|BTK_uc010nnn.2_Intron|BTK_uc010nno.2_Silent_p.R554R|BTK_uc004ehh.1_Intron|BTK_uc004ehi.2_Silent_p.R520R NM_000061 NP_000052 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 520 Protein kinase. R -> Q (in XLA; severe; prevents activation due to absence of contact between the catalytic loop and the regulatory phosphorylated residue). calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding lung(3)|central_nervous_system(2)|ovary(1) 6 ACCAGGTCTCGGTGAAGGAAC 0.537 Agammaglobulinemia_X-linked 41 33 --- --- --- --- PASS HNRNPH2 3188 broad.mit.edu 37 X 100667656 100667656 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:100667656G>T uc004ehm.2 + 2 850 c.680G>T c.(679-681)GGG>GTG p.G227V HNRNPH2_uc004ehn.2_Missense_Mutation_p.G227V NM_019597 NP_062543 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 227 nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding 0 AGAGGAGCTGGGTTTGAAAGG 0.522 15 20 --- --- --- --- PASS NXF5 55998 broad.mit.edu 37 X 101097735 101097735 + Missense_Mutation SNP C A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:101097735C>A uc011mrk.1 - 3 390 c.30G>T c.(28-30)ATG>ATT p.M10I NXF5_uc004eih.1_RNA|NXF5_uc004eii.1_RNA|NXF5_uc004eij.1_RNA|NXF5_uc004eik.1_RNA|NXF5_uc004eil.1_RNA NM_032946 NP_116564 Q9H1B4 NXF5_HUMAN nuclear RNA export factor 5 10 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nucleus nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding central_nervous_system(1) 1 ACCATTTCCTCATGTTTTCAT 0.308 73 61 --- --- --- --- PASS ATG4A 115201 broad.mit.edu 37 X 107380351 107380351 + Silent SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:107380351C>T uc004enr.2 + 7 621 c.498C>T c.(496-498)TCC>TCT p.S166S ATG4A_uc004ent.2_Silent_p.S166S|ATG4A_uc004ens.2_Silent_p.S82S|ATG4A_uc011msl.1_Silent_p.S82S|ATG4A_uc010npi.2_Intron|ATG4A_uc004enu.2_Silent_p.S82S NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 166 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 AATGGAATTCCTTGGCTGTTT 0.378 20 31 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110491218 110491218 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:110491218T>A uc004epc.1 - 11 1655 c.1487A>T c.(1486-1488)GAA>GTA p.E496V CAPN6_uc011msu.1_Missense_Mutation_p.E241V NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 496 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 CAGAGTCAGTTCCCTAGAACA 0.433 24 83 --- --- --- --- PASS CAPN6 827 broad.mit.edu 37 X 110494147 110494147 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:110494147G>T uc004epc.1 - 8 1324 c.1156C>A c.(1156-1158)CAG>AAG p.Q386K CAPN6_uc011msu.1_Missense_Mutation_p.Q131K NM_014289 NP_055104 Q9Y6Q1 CAN6_HUMAN calpain 6 386 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 ACTCAAACCTGGGGATTCTGC 0.453 71 57 --- --- --- --- PASS DCX 1641 broad.mit.edu 37 X 110653371 110653371 + Missense_Mutation SNP C T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:110653371C>T uc004epd.2 - 2 671 c.499G>A c.(499-501)GAC>AAC p.D167N DCX_uc011msv.1_Missense_Mutation_p.D167N|DCX_uc004epe.2_Missense_Mutation_p.D86N|DCX_uc004epf.2_Missense_Mutation_p.D86N|DCX_uc004epg.2_Missense_Mutation_p.D86N NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 167 Doublecortin 1. D -> H (in SBHX). axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 CGCGTCAGGTCAGCCAGCAAG 0.517 34 22 --- --- --- --- PASS DCAF12L1 139170 broad.mit.edu 37 X 125685530 125685530 + Silent SNP C T T rs138224583 byFrequency TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:125685530C>T uc004eul.2 - 1 1313 c.1062G>A c.(1060-1062)CGG>CGA p.R354R NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 354 WD 4. skin(3)|ovary(1) 4 AGCTCAGCGACCGCACGCCTG 0.622 12 16 --- --- --- --- PASS FRMD7 90167 broad.mit.edu 37 X 131212472 131212472 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:131212472G>T uc004ewn.2 - 12 1751 c.1573C>A c.(1573-1575)CCC>ACC p.P525T FRMD7_uc011muy.1_Missense_Mutation_p.P510T NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 525 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) ATTGCAGTGGGCTCTACATAG 0.498 51 80 --- --- --- --- PASS MAGEA11 4110 broad.mit.edu 37 X 148798397 148798397 + Silent SNP G A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:148798397G>A uc004fdq.2 + 5 1353 c.1251G>A c.(1249-1251)CTG>CTA p.L417L HSFX2_uc004fdl.2_Intron|HSFX1_uc004fdm.2_Intron|MAGEA11_uc004fdr.2_Silent_p.L388L NM_005366 NP_005357 P43364 MAGAB_HUMAN melanoma antigen family A, 11 isoform a 417 MAGE. cytoplasm|nucleus protein binding ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) ACCCATCCCTGTATGAAGATG 0.557 42 23 --- --- --- --- PASS MAGEA10 4109 broad.mit.edu 37 X 151303813 151303813 + Missense_Mutation SNP G T T TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:151303813G>T uc004ffk.2 - 5 688 c.280C>A c.(280-282)CCC>ACC p.P94T MAGEA10_uc004ffl.2_Missense_Mutation_p.P94T NM_001011543 NP_001011543 P43363 MAGAA_HUMAN melanoma antigen family A, 10 94 0 Acute lymphoblastic leukemia(192;6.56e-05) ACGACCGAGGGGGAGGAGCAG 0.522 52 65 --- --- --- --- PASS IDH3G 3421 broad.mit.edu 37 X 153053588 153053588 + Missense_Mutation SNP T A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:153053588T>A uc004fip.2 - 6 535 c.349A>T c.(349-351)AAC>TAC p.N117Y IDH3G_uc004fio.2_Missense_Mutation_p.N59Y|IDH3G_uc004fiq.2_Missense_Mutation_p.N117Y|IDH3G_uc010num.2_Missense_Mutation_p.N59Y|IDH3G_uc004fir.2_Missense_Mutation_p.N59Y|IDH3G_uc004fit.1_Missense_Mutation_p.N117Y|IDH3G_uc004fis.2_Missense_Mutation_p.N59Y|IDH3G_uc004fiu.2_5'Flank NM_004135 NP_004126 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma isoform 117 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) GTTTCGATGTTGCCTACAAAA 0.587 52 39 --- --- --- --- PASS PLXNA3 55558 broad.mit.edu 37 X 153692517 153692517 + Missense_Mutation SNP C G G rs144165306 TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:153692517C>G uc004flm.2 + 8 1862 c.1689C>G c.(1687-1689)CAC>CAG p.H563Q NM_017514 NP_059984 P51805 PLXA3_HUMAN plexin A3 precursor 563 Extracellular (Potential). axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCACCCTGCACAACGTGCCAG 0.697 3 3 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77761870 77761871 + Frame_Shift_Ins INS - A A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr8:77761870_77761871insA uc003yav.2 + 8 4020_4021 c.3633_3634insA c.(3631-3636)AGCAACfs p.S1211fs ZFHX4_uc003yau.1_Frame_Shift_Ins_p.S1256fs|ZFHX4_uc003yaw.1_Frame_Shift_Ins_p.S1211fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 1211_1212 C2H2-type 9. 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) ACGTCCTCAGCAACAAAATGCA 0.490 HNSCC(33;0.089) 57 27 --- --- --- --- NCAPD3 23310 broad.mit.edu 37 11 134062759 134062759 + Frame_Shift_Del DEL C - - TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr11:134062759delC uc001qhd.1 - 16 2476 c.1870delG c.(1870-1872)GTGfs p.V624fs NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 624 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ACCGGGACCACCCCCCGCAAC 0.542 73 32 --- --- --- --- DISP2 85455 broad.mit.edu 37 15 40659933 40659933 + Frame_Shift_Del DEL C - - TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr15:40659933delC uc001zlk.1 + 8 1709 c.1620delC c.(1618-1620)TTCfs p.F540fs NM_033510 NP_277045 A7MBM2 DISP2_HUMAN dispatched B 540 SSD. smoothened signaling pathway integral to membrane ovary(2) 2 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;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) TGGCCTACTTCCCCTTCGTCA 0.617 29 15 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1823398 1823402 + Frame_Shift_Del DEL GCAGG - - TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chr16:1823398_1823402delGCAGG uc002cmq.1 + 1 170_174 c.170_174delGCAGG c.(169-174)CGCAGGfs p.R57fs NME3_uc002cmm.2_5'Flank|NME3_uc010brv.2_5'Flank|MRPS34_uc002cmn.2_5'Flank|MRPS34_uc002cmo.2_5'Flank|MRPS34_uc002cmp.1_5'Flank|EME2_uc010brw.1_Frame_Shift_Del_p.R57fs NM_001010865 NP_001010865 A4GXA9 EME2_HUMAN essential meiotic endonuclease 1 homolog 2 57_58 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity lung(1)|central_nervous_system(1)|pancreas(1) 3 GCGGGTGAGCGCAGGGCGGCTGCCG 0.737 Direct_reversal_of_damage|Homologous_recombination 8 10 --- --- --- --- NUDT11 55190 broad.mit.edu 37 X 51239296 51239309 + Translation_Start_Site DEL TCCTCGAGGCAGCC - - TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:51239296_51239309delTCCTCGAGGCAGCC uc010njt.2 - 1 NM_018159 NP_060629 Q96G61 NUD11_HUMAN nudix-type motif 11 cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding 0 Ovarian(276;0.236) TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC 0.584 HNSCC(48;0.14) 7 5 --- --- --- --- F9 2158 broad.mit.edu 37 X 138633269 138633269 + Frame_Shift_Del DEL C - - TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:138633269delC uc004fas.1 + 6 598 c.569delC c.(568-570)ACCfs p.T190fs F9_uc004fat.1_Frame_Shift_Del_p.T152fs NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 190 blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TCTAAGCTCACCCGTGCTGAG 0.368 35 33 --- --- --- --- MAGEA4 4103 broad.mit.edu 37 X 151093042 151093042 + Frame_Shift_Del DEL C - - TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx f01dfe80-aee9-44f6-b32d-3591fbc3c0f5 4cec06de-d6de-4e8b-ad24-e9559630c0aa g.chrX:151093042delC uc004fez.2 + 3 1062 c.906delC c.(904-906)TACfs p.Y302fs MAGEA4_uc004ffa.2_Frame_Shift_Del_p.Y302fs|MAGEA4_uc004ffb.2_Frame_Shift_Del_p.Y302fs|MAGEA4_uc004ffc.2_Frame_Shift_Del_p.Y302fs|MAGEA4_uc004ffd.2_Frame_Shift_Del_p.Y302fs NM_002362 NP_002353 P43358 MAGA4_HUMAN melanoma antigen family A, 4 302 MAGE. protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GCATTGCCTACCCATCCCTGC 0.572 42 40 --- --- --- ---