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 6354951 6354951 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:6354951T>C uc001ams.2 - 7 989 c.832A>G c.(832-834)ATT>GTT p.I278V ACOT7_uc010nzq.1_Missense_Mutation_p.I163V|ACOT7_uc001amt.2_Missense_Mutation_p.I268V|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Missense_Mutation_p.I227V|ACOT7_uc001amr.2_Missense_Mutation_p.I248V NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 278 Acyl coenzyme A hydrolase 2. 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) TGAAAATTAATGGCGTCCACG 0.542 9 37 --- --- --- --- PASS ACOT7 11332 broad.mit.edu 37 1 6409851 6409851 + Silent SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:6409851T>A uc001ams.2 - 2 406 c.249A>T c.(247-249)GCA>GCT p.A83A ACOT7_uc010nzq.1_Intron|ACOT7_uc001amt.2_Silent_p.A73A|ACOT7_uc001amu.2_RNA|ACOT7_uc001amv.2_RNA|ACOT7_uc001amq.2_Silent_p.A32A|ACOT7_uc001amr.2_Silent_p.A53A NM_181864 NP_863654 O00154 BACH_HUMAN acyl-CoA thioesterase 7 isoform hBACHb 83 Acyl coenzyme A hydrolase 1. 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) TGATGGCGCCTGCCTCCTCGA 0.622 10 17 --- --- --- --- PASS LUZP1 7798 broad.mit.edu 37 1 23418882 23418882 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:23418882C>G uc001bgk.2 - 4 2257 c.1873G>C c.(1873-1875)GAA>CAA p.E625Q LUZP1_uc010odv.1_Missense_Mutation_p.E625Q|LUZP1_uc001bgl.2_Missense_Mutation_p.E625Q|LUZP1_uc001bgm.1_Missense_Mutation_p.E625Q NM_033631 NP_361013 Q86V48 LUZP1_HUMAN leucine zipper protein 1 625 nucleus 0 Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199) TTAACCCCTTCTTTATGTGAG 0.468 34 115 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34158623 34158623 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:34158623G>A uc001bxn.1 - 25 3868 c.3839C>T c.(3838-3840)TCG>TTG p.S1280L CSMD2_uc001bxm.1_Missense_Mutation_p.S1320L|CSMD2_uc001bxo.1_Missense_Mutation_p.S193L NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1280 CUB 8.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CACCTGCCCCGACACCTCTCC 0.572 61 67 --- --- --- --- PASS DLGAP3 58512 broad.mit.edu 37 1 35351752 35351752 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:35351752G>A uc001byc.2 - 4 1521 c.1521C>T c.(1519-1521)ATC>ATT p.I507I NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 507 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) AGCCGGCCTGGATGGCCCGGA 0.692 5 5 --- --- --- --- PASS CSF3R 1441 broad.mit.edu 37 1 36933539 36933539 + Missense_Mutation SNP C A A rs148104401 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:36933539C>A uc001caw.1 - 14 1926 c.1748G>T c.(1747-1749)CGT>CTT p.R583L CSF3R_uc001cat.1_Missense_Mutation_p.R146L|CSF3R_uc009vvc.1_Missense_Mutation_p.R112L|CSF3R_uc001cau.1_5'UTR|CSF3R_uc001cav.1_Missense_Mutation_p.R583L|CSF3R_uc001cax.1_Missense_Mutation_p.R583L|CSF3R_uc001cay.1_Missense_Mutation_p.R583L NM_000760 NP_000751 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor isoform a 583 Fibronectin type-III 5.|Extracellular (Potential). cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|ovary(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) GACAAAGCCACGGGAGGAGGC 0.637 11 13 --- --- --- --- PASS ZC3H12A 80149 broad.mit.edu 37 1 37947224 37947224 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:37947224G>T uc001cbb.3 + 4 756 c.606G>T c.(604-606)CTG>CTT p.L202L ZC3H12A_uc001cbc.1_5'UTR NM_025079 NP_079355 Q5D1E8 ZC12A_HUMAN zinc finger CCCH-type containing 12A 202 angiogenesis|apoptosis|cell differentiation cytoplasm|nucleus|plasma membrane endonuclease activity|metal ion binding ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGCGGGAACTGGAGAAGAAGA 0.597 5 80 --- --- --- --- PASS MACF1 23499 broad.mit.edu 37 1 39833823 39833823 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:39833823C>T uc010oiu.1 + 14 8226 c.8095C>T c.(8095-8097)CTC>TTC p.L2699F MACF1_uc010ois.1_Missense_Mutation_p.L2197F|MACF1_uc001cda.1_Missense_Mutation_p.L2105F|MACF1_uc001cdc.1_Missense_Mutation_p.L1284F|MACF1_uc001cdb.1_Missense_Mutation_p.L1284F NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 4264 LRR 15. 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) TTGACAGGAGCTCAATTTGGA 0.423 13 33 --- --- --- --- PASS LEPR 3953 broad.mit.edu 37 1 66067350 66067350 + Nonsense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:66067350G>T uc001dci.2 + 9 1472 c.1270G>T c.(1270-1272)GAA>TAA p.E424* LEPR_uc001dcg.2_Nonsense_Mutation_p.E424*|LEPR_uc001dch.2_Nonsense_Mutation_p.E424*|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Nonsense_Mutation_p.E424*|LEPR_uc001dck.2_Nonsense_Mutation_p.E424* NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 424 Extracellular (Potential).|Ig-like. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TCGCTATGCTGAATTATATGT 0.353 7 11 --- --- --- --- PASS MSH4 4438 broad.mit.edu 37 1 76342658 76342658 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:76342658C>A uc001dhd.1 + 10 1384 c.1343C>A c.(1342-1344)GCT>GAT p.A448D NM_002440 NP_002431 O15457 MSH4_HUMAN mutS homolog 4 448 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 TTATTAAGAGCTTACTATGGT 0.279 MMR 8 19 --- --- --- --- PASS PRKACB 5567 broad.mit.edu 37 1 84663425 84663425 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:84663425G>T uc001djj.2 + 7 824 c.560G>T c.(559-561)GGG>GTG p.G187V PRKACB_uc001djl.2_Missense_Mutation_p.G234V|PRKACB_uc010ort.1_Missense_Mutation_p.G194V|PRKACB_uc001djn.2_Missense_Mutation_p.G191V|PRKACB_uc010oru.1_Missense_Mutation_p.G175V|PRKACB_uc001djp.2_Missense_Mutation_p.G193V|PRKACB_uc001djq.2_Missense_Mutation_p.G157V|PRKACB_uc010orv.1_Missense_Mutation_p.G174V|PRKACB_uc001dji.2_Missense_Mutation_p.G187V|PRKACB_uc001djk.2_Missense_Mutation_p.G234V|PRKACB_uc009wcf.1_Missense_Mutation_p.G193V NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 187 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) ACAGACTTTGGGTTTGCCAAA 0.318 5 32 --- --- --- --- PASS LRRC8D 55144 broad.mit.edu 37 1 90400188 90400188 + Missense_Mutation SNP T C C rs112842021 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:90400188T>C uc001dnm.2 + 3 1986 c.1561T>C c.(1561-1563)TGC>CGC p.C521R LRRC8D_uc001dnn.2_Missense_Mutation_p.C521R NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 521 LRR 1. integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) GCTCCACCTCTGCCACTGCCC 0.453 36 53 --- --- --- --- PASS PIAS3 10401 broad.mit.edu 37 1 145580518 145580518 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:145580518C>G uc001eoc.1 + 7 909 c.818C>G c.(817-819)TCT>TGT p.S273C NBPF10_uc001emp.3_Intron|PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 273 PINIT. positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TACTCCTTGTCTGTGTACCTG 0.512 31 43 --- --- --- --- PASS HIST2H2BE 8349 broad.mit.edu 37 1 149858024 149858024 + Nonsense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:149858024G>T uc001etc.2 - 1 209 c.167C>A c.(166-168)TCG>TAG p.S56* HIST2H2AC_uc001etd.2_5'Flank NM_003528 NP_003519 Q16778 H2B2E_HUMAN histone cluster 2, H2be 56 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding ovary(1) 1 Breast(34;0.0124)|all_hematologic(923;0.127) STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221) GGCCTTGGACGAGATGCCGGT 0.592 6 196 --- --- --- --- PASS SELENBP1 8991 broad.mit.edu 37 1 151337409 151337409 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:151337409G>C uc001exx.2 - 11 1296 c.1249C>G c.(1249-1251)CTC>GTC p.L417V SELENBP1_uc010pcy.1_Missense_Mutation_p.L459V|SELENBP1_uc001exy.2_Missense_Mutation_p.L314V|SELENBP1_uc001exz.2_Missense_Mutation_p.L314V|SELENBP1_uc010pcz.1_Missense_Mutation_p.L355V|SELENBP1_uc009wms.2_Missense_Mutation_p.L253V|SELENBP1_uc009wmt.2_Missense_Mutation_p.L314V|SELENBP1_uc001eya.2_Missense_Mutation_p.L353V|SELENBP1_uc009wmu.2_3'UTR NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 417 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CACCTGATGAGATCAGGGTAA 0.572 4 23 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156626131 156626131 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:156626131G>T uc001fpp.2 + 9 2336 c.2000G>T c.(1999-2001)GGG>GTG p.G667V NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 667 EGF-like. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GAGGAGGAAGGGGTCCGCTGC 0.642 31 33 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157650786 157650786 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:157650786G>A uc001frb.2 - 12 2234 c.1942C>T c.(1942-1944)CCA>TCA p.P648S FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.P648S|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_Missense_Mutation_p.P374S|FCRL3_uc001frc.1_Missense_Mutation_p.P648S NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 648 ITIM motif 1.|Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CTGTACATTGGCTCCAGCTCC 0.587 4 49 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157773754 157773754 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:157773754C>A uc001frg.2 - 3 313 c.200G>T c.(199-201)AGC>ATC p.S67I FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Missense_Mutation_p.S67I|FCRL1_uc001fri.2_Missense_Mutation_p.S67I|FCRL1_uc001frj.2_RNA NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 67 Extracellular (Potential).|Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CTTGGGGGAGCTGCTCCAGCC 0.562 35 34 --- --- --- --- PASS APCS 325 broad.mit.edu 37 1 159557995 159557995 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:159557995C>A uc001ftv.2 + 2 265 c.169C>A c.(169-171)CGA>AGA p.R57R NM_001639 NP_001630 P02743 SAMP_HUMAN serum amyloid P component precursor 57 Pentaxin. acute-phase response|chaperone-mediated protein complex assembly|protein folding extracellular space metal ion binding|sugar binding|unfolded protein binding ovary(1)|breast(1) 2 all_hematologic(112;0.0429) CTTGTGTTTTCGAGCCTATAG 0.428 4 68 --- --- --- --- PASS CCDC19 25790 broad.mit.edu 37 1 159856431 159856431 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:159856431C>T uc001fui.2 - 6 655 c.637G>A c.(637-639)GAG>AAG p.E213K CCDC19_uc009wtb.2_RNA|CCDC19_uc001fuj.2_RNA|CCDC19_uc001fuk.2_Missense_Mutation_p.E128K|CCDC19_uc001ful.2_Missense_Mutation_p.E128K|CCDC19_uc009wtc.1_Missense_Mutation_p.E213K NM_012337 NP_036469 Q9UL16 CCD19_HUMAN nasopharyngeal epithelium specific protein 1 213 Potential. mitochondrion|soluble fraction ovary(1) 1 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TGCTGCTTCTCCAGGATTTGG 0.478 9 257 --- --- --- --- PASS HSPA6 3310 broad.mit.edu 37 1 161495234 161495234 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:161495234G>T uc001gap.2 + 2 1446 c.786G>T c.(784-786)CTG>CTT p.L262L HSPA6_uc001gaq.2_Silent_p.L262L NM_002155 NP_002146 P17066 HSP76_HUMAN heat shock 70kDa protein 6 (HSP70B') 262 response to unfolded protein ATP binding skin(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGCGTGCCCTGCGCAGGCTGC 0.632 7 9 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169993642 169993642 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:169993642C>G uc001ggv.2 - 9 1208 c.937G>C c.(937-939)GAT>CAT p.D313H KIFAP3_uc010plx.1_Missense_Mutation_p.D15H NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 313 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TTGTCCCGATCAAGGGCTTTC 0.358 5 25 --- --- --- --- PASS MYOC 4653 broad.mit.edu 37 1 171605340 171605340 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:171605340C>T uc001ghu.2 - 3 1262 c.1240G>A c.(1240-1242)GAA>AAA p.E414K MYOC_uc010pmk.1_Missense_Mutation_p.E356K NM_000261 NP_000252 Q99972 MYOC_HUMAN myocilin precursor 414 Olfactomedin-like. E -> K. anatomical structure morphogenesis cilium|extracellular space|rough endoplasmic reticulum structural molecule activity lung(1) 1 all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181) CAGGTTTGTTCGAGTTCCAGA 0.527 35 87 --- --- --- --- PASS METTL13 51603 broad.mit.edu 37 1 171753518 171753518 + Missense_Mutation SNP G T T rs149343407 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:171753518G>T uc001ghz.2 + 2 1139 c.792G>T c.(790-792)AGG>AGT p.R264S METTL13_uc001gia.2_Missense_Mutation_p.R178S|METTL13_uc001gib.2_Intron|METTL13_uc010pml.1_Missense_Mutation_p.R263S NM_015935 NP_057019 Q8N6R0 MTL13_HUMAN CGI-01 protein isoform 1 264 methyltransferase activity|protein binding kidney(1) 1 GCAAGGCCAGGCTGGGGAGTG 0.677 7 21 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175052998 175052998 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:175052998C>T uc001gkl.1 + 5 1274 c.1161C>T c.(1159-1161)CCC>CCT p.P387P TNN_uc010pmx.1_Silent_p.P387P NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 387 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GATATGGCCCCATGACAGGAC 0.537 24 39 --- --- --- --- PASS TNR 7143 broad.mit.edu 37 1 175372563 175372563 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:175372563C>T uc001gkp.1 - 2 770 c.689G>A c.(688-690)TGT>TAT p.C230Y TNR_uc009wwu.1_Missense_Mutation_p.C230Y|TNR_uc010pmz.1_Missense_Mutation_p.C230Y NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 230 Cys-rich.|EGF-like 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) GAGTTCGGAACAGTCATCCCC 0.632 38 78 --- --- --- --- PASS ABL2 27 broad.mit.edu 37 1 179078459 179078459 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:179078459C>A uc001gmj.3 - 12 2230 c.1943G>T c.(1942-1944)AGG>ATG p.R648M ABL2_uc010pnf.1_Missense_Mutation_p.R648M|ABL2_uc010png.1_Missense_Mutation_p.R627M|ABL2_uc010pnh.1_Missense_Mutation_p.R627M|ABL2_uc001gmg.3_Missense_Mutation_p.R633M|ABL2_uc001gmi.3_Missense_Mutation_p.R633M|ABL2_uc001gmh.3_Missense_Mutation_p.R612M|ABL2_uc010pne.1_Missense_Mutation_p.R612M NM_007314 NP_009298 P42684 ABL2_HUMAN arg tyrosine kinase isoform b 648 axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction cytoskeleton|cytosol ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(8)|breast(3)|ovary(2)|central_nervous_system(1) 14 Adenosine triphosphate(DB00171)|Dasatinib(DB01254) GCCCCCCTTCCTATCCCTGGT 0.537 T ETV6 AML 9 165 --- --- --- --- PASS CACNA1E 777 broad.mit.edu 37 1 181740495 181740495 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:181740495T>C uc001gow.2 + 36 5113 c.4948T>C c.(4948-4950)TTT>CTT p.F1650L CACNA1E_uc009wxs.2_Missense_Mutation_p.F1538L|CACNA1E_uc001gox.1_Missense_Mutation_p.F876L|CACNA1E_uc009wxt.2_Missense_Mutation_p.F876L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1650 Extracellular (Potential).|IV. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 CCGGAGTTTCTTTGGGTCCCT 0.473 3 12 --- --- --- --- PASS KIF21B 23046 broad.mit.edu 37 1 200946364 200946364 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:200946364G>A uc001gvs.1 - 31 4618 c.4301C>T c.(4300-4302)GCC>GTC p.A1434V KIF21B_uc001gvr.1_Missense_Mutation_p.A1421V|KIF21B_uc009wzl.1_Missense_Mutation_p.A1434V|KIF21B_uc010ppn.1_Missense_Mutation_p.A1421V NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1434 WD 3. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 GATGCGGACGGCATTGCCCGA 0.632 29 79 --- --- --- --- PASS PPP1R12B 4660 broad.mit.edu 37 1 202400696 202400696 + Nonsense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:202400696G>T uc001gya.1 + 8 1234 c.1090G>T c.(1090-1092)GAG>TAG p.E364* PPP1R12B_uc001gxy.2_Nonsense_Mutation_p.E364*|PPP1R12B_uc009xad.1_Nonsense_Mutation_p.E170*|PPP1R12B_uc009xae.1_Nonsense_Mutation_p.E364*|PPP1R12B_uc001gxz.1_Nonsense_Mutation_p.E364* NM_002481 NP_002472 O60237 MYPT2_HUMAN protein phosphatase 1, regulatory (inhibitor) 364 Glu-rich. regulation of muscle contraction|signal transduction cytoplasm enzyme activator activity ovary(3) 3 BRCA - Breast invasive adenocarcinoma(75;0.166) CAGCTCAGAGGAGGAGGAAGG 0.418 69 88 --- --- --- --- PASS SPATA17 128153 broad.mit.edu 37 1 218036154 218036154 + Silent SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:218036154A>G uc001hlh.1 + 10 1070 c.1044A>G c.(1042-1044)TCA>TCG p.S348S SPATA17_uc001hli.2_Silent_p.S348S NM_138796 NP_620151 Q96L03 SPT17_HUMAN spermatogenesis associated 17 348 cytoplasm calmodulin binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117) AGCTCTTCTCAAAGTATGGAA 0.284 43 52 --- --- --- --- PASS OBSCN 84033 broad.mit.edu 37 1 228456387 228456387 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:228456387G>T uc009xez.1 + 17 5062 c.5018G>T c.(5017-5019)CGC>CTC p.R1673L OBSCN_uc001hsn.2_Missense_Mutation_p.R1673L|OBSCN_uc001hso.2_Missense_Mutation_p.R119L NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1673 Ig-like 17. RV -> HM (in Ref. 1; CAC85750). 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) TCGAAAGTGCGCGTGGAGGCC 0.687 41 44 --- --- --- --- PASS NUP133 55746 broad.mit.edu 37 1 229596457 229596457 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:229596457T>A uc001htn.2 - 20 2837 c.2745A>T c.(2743-2745)TTA>TTT p.L915F NM_018230 NP_060700 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 915 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding breast(4)|skin(2)|ovary(1) 7 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) TGGGCTGAGATAATAATTTGC 0.348 22 51 --- --- --- --- PASS TAF5L 27097 broad.mit.edu 37 1 229730434 229730434 + Silent SNP C T T rs148664199 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:229730434C>T uc001htq.2 - 5 1546 c.1380G>A c.(1378-1380)TCG>TCA p.S460S NM_014409 NP_055224 O75529 TAF5L_HUMAN PCAF associated factor 65 beta isoform a 460 WD 4. histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) AAAGCCTCACCGAGTTCCCCT 0.582 21 113 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235840490 235840490 + Splice_Site SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:235840490T>A uc001hxj.2 - 50 11116 c.10941_splice c.e50-1 p.R3647_splice LYST_uc001hxi.2_Splice_Site_p.R871_splice NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TAGCATAACCTGAAAGAAAAA 0.363 Chediak-Higashi_syndrome 21 23 --- --- --- --- PASS GPR137B 7107 broad.mit.edu 37 1 236343287 236343287 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:236343287G>A uc001hxq.2 + 4 887 c.796G>A c.(796-798)GTC>ATC p.V266I GPR137B_uc001hxr.1_Missense_Mutation_p.V48I|GPR137B_uc009xge.2_RNA NM_003272 NP_003263 O60478 G137B_HUMAN G protein-coupled receptor 137B 266 Extracellular (Potential). integral to plasma membrane|membrane fraction 0 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226) OV - Ovarian serous cystadenocarcinoma(106;0.00162) GAACAAGAGCGTCCATTCCTT 0.468 20 71 --- --- --- --- PASS HNRNPU 3192 broad.mit.edu 37 1 245020153 245020153 + Silent SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:245020153T>A uc001iaz.1 - 9 1838 c.1620A>T c.(1618-1620)GCA>GCT p.A540A HNRNPU_uc001iaw.1_RNA|HNRNPU_uc001iax.1_RNA|HNRNPU_uc001iay.1_Silent_p.A264A|HNRNPU_uc001iba.1_Silent_p.A521A|HNRNPU_uc001ibb.1_Silent_p.A228A NM_031844 NP_114032 Q00839 HNRPU_HUMAN heterogeneous nuclear ribonucleoprotein U 540 CRD-mediated mRNA stabilization catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm ATP binding|DNA binding|protein binding|RNA binding 0 all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.00868) TCTTAAAACCTGCCACCTATA 0.363 34 70 --- --- --- --- PASS AHCTF1 25909 broad.mit.edu 37 1 247050612 247050612 + Silent SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:247050612T>C uc001ibu.1 - 19 2380 c.2373A>G c.(2371-2373)ACA>ACG p.T791T AHCTF1_uc001ibv.1_Silent_p.T800T|AHCTF1_uc009xgs.1_5'UTR NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 791 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) TGGGAGTGTCTGTTTTGTTGG 0.353 44 40 --- --- --- --- PASS OR2W5 441932 broad.mit.edu 37 1 247654714 247654714 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:247654714C>T uc001icz.1 + 1 285 c.285C>T c.(283-285)CAC>CAT p.H95H NM_001004698 NP_001004698 A6NFC9 OR2W5_HUMAN olfactory receptor, family 2, subfamily W, 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.222) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCACCTACCACGGCTGTGTGG 0.557 42 36 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752503 247752503 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:247752503A>T uc010pyy.1 + 1 842 c.842A>T c.(841-843)TAC>TTC p.Y281F NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 281 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) TCTCTCTTCTACACTGTGGTA 0.358 72 100 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112725 248112725 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:248112725T>A uc001idt.1 + 1 566 c.566T>A c.(565-567)ATG>AAG p.M189K OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CTGGCCTGCATGGACACCTGG 0.468 16 33 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112726 248112726 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:248112726G>T uc001idt.1 + 1 567 c.567G>T c.(565-567)ATG>ATT p.M189I OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 189 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TGGCCTGCATGGACACCTGGG 0.473 16 32 --- --- --- --- PASS DNMT3A 1788 broad.mit.edu 37 2 25467478 25467478 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:25467478T>C uc002rgc.2 - 14 1855 c.1598A>G c.(1597-1599)TAC>TGC p.Y533C DNMT3A_uc002rgd.2_Missense_Mutation_p.Y533C|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.Y344C NM_022552 NP_072046 Q9Y6K1 DNM3A_HUMAN DNA cytosine methyltransferase 3 alpha isoform 533 Interaction with the PRC2/EED-EZH2 complex (By similarity).|ADD. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3) 140 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTAGGACTGGTAGCCGTCGTC 0.602 Mis|F|N|S AML 15 3 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33525541 33525541 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:33525541A>G uc002ros.2 + 21 3262 c.3262A>G c.(3262-3264)AAT>GAT p.N1088D LTBP1_uc002rot.2_Missense_Mutation_p.N762D|LTBP1_uc002rou.2_Missense_Mutation_p.N761D|LTBP1_uc002rov.2_Missense_Mutation_p.N708D|LTBP1_uc010ymz.1_Missense_Mutation_p.N761D|LTBP1_uc010yna.1_Missense_Mutation_p.N708D|LTBP1_uc010ynb.1_Missense_Mutation_p.N27D NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1087 EGF-like 9; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) TCAGCAAGGGAATCTATGTGT 0.488 39 23 --- --- --- --- PASS DYNC2LI1 51626 broad.mit.edu 37 2 44016793 44016793 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:44016793T>C uc002rtk.2 + 5 349 c.253T>C c.(253-255)TGG>CGG p.W85R DYNC2LI1_uc002rth.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rti.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rtj.2_Missense_Mutation_p.W85R|DYNC2LI1_uc002rtl.2_Missense_Mutation_p.W85R|DYNC2LI1_uc010ynz.1_5'UTR NM_016008 NP_057092 Q8TCX1 DC2L1_HUMAN dynein 2 light intermediate chain isoform 1 85 apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium motor activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CGCTCACTTTTGGGAACTCGG 0.378 34 13 --- --- --- --- PASS STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808748 48808748 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:48808748C>T uc010yol.1 + 1 1023 c.976C>T c.(976-978)CCA>TCA p.P326S STON1_uc002rwo.3_Missense_Mutation_p.P326S|STON1_uc010fbm.2_Missense_Mutation_p.P326S|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P326S|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P326S NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 326 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) ACAGCTTGATCCATATTGTAG 0.378 7 265 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49210251 49210251 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:49210251G>T uc002rww.2 - 7 653 c.579C>A c.(577-579)ACC>ACA p.T193T FSHR_uc002rwx.2_Silent_p.T193T|FSHR_uc010fbn.2_Silent_p.T167T|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 193 LRR 7.|Extracellular (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) CATCTAGTTGGGTTCCATTGA 0.368 Gonadal_Dysgenesis_46_XX 11 72 --- --- --- --- PASS CCDC88A 55704 broad.mit.edu 37 2 55576722 55576722 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:55576722C>T uc002ryv.2 - 9 1656 c.814G>A c.(814-816)GAG>AAG p.E272K CCDC88A_uc010yoz.1_Missense_Mutation_p.E272K|CCDC88A_uc010ypa.1_Missense_Mutation_p.E272K|CCDC88A_uc010ypb.1_Missense_Mutation_p.E174K NM_001135597 NP_001129069 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A isoform 1 272 Potential. activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding ovary(2)|skin(2) 4 AACAACTGCTCAGTCTTTTCC 0.328 11 23 --- --- --- --- PASS CCDC85A 114800 broad.mit.edu 37 2 56603032 56603032 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:56603032C>G uc002rzn.2 + 5 2036 c.1534C>G c.(1534-1536)CCT>GCT p.P512A NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 512 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACATGCCACACCTTCCCAGCA 0.473 21 50 --- --- --- --- PASS KIAA1841 84542 broad.mit.edu 37 2 61319611 61319611 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:61319611G>T uc002saw.3 + 11 1404 c.1101G>T c.(1099-1101)TGG>TGT p.W367C KIAA1841_uc002sax.3_Missense_Mutation_p.W221C|KIAA1841_uc002say.2_Missense_Mutation_p.W367C NM_001129993 NP_001123465 Q6NSI8 K1841_HUMAN KIAA1841 protein isoform a 367 0 Epithelial(17;0.193) ATAAGACATGGGATGTTCATG 0.284 8 384 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61459593 61459593 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:61459593C>T uc002sbe.2 - 58 7129 c.7107G>A c.(7105-7107)GTG>GTA p.V2369V USP34_uc002sbf.2_Silent_p.V519V NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2369 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) TTACCTGTCTCACAATTTGAT 0.308 81 149 --- --- --- --- PASS USP34 9736 broad.mit.edu 37 2 61459646 61459646 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:61459646C>G uc002sbe.2 - 58 7076 c.7054G>C c.(7054-7056)GAT>CAT p.D2352H USP34_uc002sbf.2_Missense_Mutation_p.D502H NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 2352 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CAGTCGTCATCAGCCATACGA 0.308 69 152 --- --- --- --- PASS APLF 200558 broad.mit.edu 37 2 68772369 68772369 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:68772369A>T uc002sep.2 + 8 1384 c.1211A>T c.(1210-1212)TAT>TTT p.Y404F APLF_uc002seq.1_RNA|APLF_uc010fdf.2_Missense_Mutation_p.Y380F|APLF_uc002ser.1_Missense_Mutation_p.Y135F NM_173545 NP_775816 Q8IW19 APLF_HUMAN aprataxin and PNKP like factor 404 double-strand break repair|single strand break repair cytosol|nucleus 3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding ovary(2) 2 GATAGTGATTATGGAGGTGTA 0.413 21 38 --- --- --- --- PASS ARHGAP25 9938 broad.mit.edu 37 2 69046265 69046265 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:69046265G>T uc002seu.2 + 9 1375 c.1011G>T c.(1009-1011)CAG>CAT p.Q337H ARHGAP25_uc010fdg.2_Missense_Mutation_p.Q338H|ARHGAP25_uc010yql.1_Missense_Mutation_p.Q298H|ARHGAP25_uc002sev.2_Missense_Mutation_p.Q331H|ARHGAP25_uc002sew.2_Missense_Mutation_p.Q330H|ARHGAP25_uc002sex.2_Missense_Mutation_p.Q331H|ARHGAP25_uc002sey.2_Missense_Mutation_p.Q64H NM_001007231 NP_001007232 P42331 RHG25_HUMAN Rho GTPase activating protein 25 isoform a 337 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(2)|breast(2) 4 GGACTCCTCAGATCCAAAGAG 0.498 8 341 --- --- --- --- PASS DCTN1 1639 broad.mit.edu 37 2 74593698 74593698 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:74593698G>A uc002skx.2 - 22 2827 c.2516C>T c.(2515-2517)GCT>GTT p.A839V DCTN1_uc002skt.1_5'Flank|DCTN1_uc002skv.2_Missense_Mutation_p.A705V|DCTN1_uc002sku.2_Missense_Mutation_p.A705V|DCTN1_uc002skw.1_Missense_Mutation_p.A815V|DCTN1_uc010ffd.2_Missense_Mutation_p.A819V|DCTN1_uc002sky.2_Missense_Mutation_p.A802V NM_004082 NP_004073 Q14203 DCTN1_HUMAN dynactin 1 isoform 1 839 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding ovary(3)|skin(2) 5 CTGCAGCACAGCCACGACCCA 0.582 53 136 --- --- --- --- PASS TMEM150A 129303 broad.mit.edu 37 2 85826823 85826823 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:85826823C>A uc002spw.1 - 6 1120 c.399G>T c.(397-399)GTG>GTT p.V133V TMEM150A_uc002spx.1_Silent_p.V49V|TMEM150A_uc002spz.1_Silent_p.V80V|TMEM150A_uc002sqa.1_Silent_p.V49V|TMEM150A_uc002spy.1_Silent_p.V133V NM_001031738 NP_001026908 Q86TG1 T150A_HUMAN transmembrane protein 150A isoform 1 133 Extracellular (Potential). integral to membrane|plasma membrane 0 TGGCATGATCCACCTGGGCCC 0.607 5 59 --- --- --- --- PASS EIF2AK3 9451 broad.mit.edu 37 2 88857340 88857340 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:88857340T>C uc002stc.3 - 17 3467 c.3265A>G c.(3265-3267)AGA>GGA p.R1089G NM_004836 NP_004827 Q9NZJ5 E2AK3_HUMAN eukaryotic translation initiation factor 2-alpha 1089 Cytoplasmic (Potential). activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization endoplasmic reticulum membrane|integral to membrane ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding ovary(3) 3 GACCTCTGTCTGAGCACTGTT 0.453 42 29 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89384807 89384807 + RNA SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:89384807C>T uc010ytr.1 - 50 c.5333G>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. CTGGTGGATGCACCATAGATG 0.577 23 13 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89417018 89417018 + RNA SNP C T T rs77497402 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:89417018C>T uc010ytr.1 - 42 c.4584G>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TGATACCAGCCTAAATCATTT 0.527 48 18 --- --- --- --- PASS KIAA1310 55683 broad.mit.edu 37 2 97276805 97276805 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:97276805C>T uc002swn.3 - 10 1303 c.1157G>A c.(1156-1158)AGA>AAA p.R386K KIAA1310_uc002swh.3_Missense_Mutation_p.R274K|KIAA1310_uc002swi.3_Missense_Mutation_p.R287K|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.R299K|KIAA1310_uc010fhz.2_Missense_Mutation_p.R180K|KIAA1310_uc002swl.3_Missense_Mutation_p.R287K|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.R180K|KIAA1310_uc002swp.1_Missense_Mutation_p.R287K|KIAA1310_uc002swq.1_Missense_Mutation_p.R158K|KIAA1310_uc010fhy.1_Missense_Mutation_p.R287K NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 386 0 TCTTACCCCTCTGGGGCCATC 0.512 49 70 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102452415 102452415 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:102452415C>T uc002tbg.2 + 9 803 c.748C>T c.(748-750)CCT>TCT p.P250S MAP4K4_uc002tbc.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbd.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbe.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbf.2_Missense_Mutation_p.P250S|MAP4K4_uc010yvy.1_Missense_Mutation_p.P250S|MAP4K4_uc002tbh.2_Missense_Mutation_p.P250S|MAP4K4_uc002tbi.2_Intron|MAP4K4_uc010yvz.1_Missense_Mutation_p.P230S|MAP4K4_uc010fiw.1_Missense_Mutation_p.P92S|MAP4K4_uc002tbj.1_Missense_Mutation_p.P146S NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 250 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CAGAAACCCTCCTCCCCGGCT 0.408 6 22 --- --- --- --- PASS SLC9A4 389015 broad.mit.edu 37 2 103142717 103142717 + Splice_Site SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:103142717G>A uc002tbz.3 + 11 2408 c.1951_splice c.e11-1 p.A651_splice NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN solute carrier family 9 (sodium/hydrogen regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity skin(2)|central_nervous_system(1) 3 GCTACCCACAGGCTGGCACCA 0.418 36 72 --- --- --- --- PASS RANBP2 5903 broad.mit.edu 37 2 109384025 109384025 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:109384025A>G uc002tem.3 + 20 7156 c.7030A>G c.(7030-7032)AAA>GAA p.K2344E NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 2344 RanBD1 3. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 CAGATATGATAAAGATGTTGG 0.363 109 145 --- --- --- --- PASS DPP10 57628 broad.mit.edu 37 2 116572495 116572495 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:116572495G>A uc002tla.1 + 20 2284 c.1827G>A c.(1825-1827)CTG>CTA p.L609L DPP10_uc002tlb.1_Silent_p.L559L|DPP10_uc002tlc.1_Silent_p.L605L|DPP10_uc002tle.2_Silent_p.L613L|DPP10_uc002tlf.1_Silent_p.L602L NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 609 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 TCCAGGGTCTGAAAATTTTGC 0.383 15 59 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125671847 125671847 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:125671847A>C uc002tno.2 + 24 4267 c.3903A>C c.(3901-3903)AAA>AAC p.K1301N CNTNAP5_uc010flu.2_Missense_Mutation_p.K1302N NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 1301 Cytoplasmic (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) GCGAGTGTAAACGGGAATATT 0.408 17 33 --- --- --- --- PASS POLR2D 5433 broad.mit.edu 37 2 128610593 128610593 + Nonsense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:128610593C>A uc002tpj.2 - 2 215 c.160G>T c.(160-162)GAA>TAA p.E54* POLR2D_uc002tpk.2_Nonsense_Mutation_p.E54* NM_004805 NP_004796 O15514 RPB4_HUMAN DNA directed RNA polymerase II polypeptide D 54 mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction DNA-directed RNA polymerase II, core complex DNA-directed RNA polymerase activity|nucleotide binding 0 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0675) AGCTCCTGTTCGTCCTCTGCA 0.418 9 68 --- --- --- --- PASS SAP130 79595 broad.mit.edu 37 2 128707902 128707902 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:128707902G>A uc002tpp.2 - 16 2608 c.2476C>T c.(2476-2478)CTA>TTA p.L826L SAP130_uc002tpn.2_Silent_p.L586L|SAP130_uc002tpo.2_Silent_p.L606L|SAP130_uc010fmd.2_Silent_p.L861L NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 826 Pro-rich. histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) CCAGGTGGTAGGTCACTTGTA 0.488 37 47 --- --- --- --- PASS SAP130 79595 broad.mit.edu 37 2 128747236 128747236 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:128747236C>G uc002tpp.2 - 13 1892 c.1760G>C c.(1759-1761)GGC>GCC p.G587A SAP130_uc002tpn.2_Missense_Mutation_p.G348A|SAP130_uc002tpo.2_Missense_Mutation_p.G332A|SAP130_uc010fmd.2_Missense_Mutation_p.G587A|SAP130_uc002tpq.1_Missense_Mutation_p.G560A NM_024545 NP_078821 Q9H0E3 SP130_HUMAN Sin3A-associated protein, 130kDa isoform b 587 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity ovary(2)|skin(2) 4 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) TCCCTGTGTGCCAAGTGGTGC 0.567 22 42 --- --- --- --- PASS UGGT1 56886 broad.mit.edu 37 2 128913974 128913974 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:128913974T>A uc002tps.2 + 21 2423 c.2245T>A c.(2245-2247)TCC>ACC p.S749T UGGT1_uc010fme.1_Missense_Mutation_p.S624T|UGGT1_uc002tpr.2_Missense_Mutation_p.S725T NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 749 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 AGGAATGTCCTCCAAGGAAAT 0.299 14 28 --- --- --- --- PASS MGAT5 4249 broad.mit.edu 37 2 135180449 135180449 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:135180449G>C uc002ttv.1 + 13 1898 c.1753G>C c.(1753-1755)GAG>CAG p.E585Q NM_002410 NP_002401 Q09328 MGT5A_HUMAN N-acetylglucosaminyltransferase V 585 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.0964) CAACAATCAGGAGGAAGTAGA 0.433 6 62 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141072507 141072507 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:141072507G>T uc002tvj.1 - 83 13774 c.12802C>A c.(12802-12804)CTA>ATA p.L4268I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4268 Extracellular (Potential).|EGF-like 11. 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) TATTTACCTAGAACTGATGGT 0.353 TSP Lung(27;0.18) 15 22 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141081480 141081480 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:141081480G>A uc002tvj.1 - 81 13468 c.12496C>T c.(12496-12498)CGT>TGT p.R4166C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 4166 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) TGTTTATAACGATGAGATATC 0.244 TSP Lung(27;0.18) 6 13 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141533709 141533709 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:141533709C>T uc002tvj.1 - 33 6430 c.5458G>A c.(5458-5460)GGG>AGG p.G1820R NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1820 Extracellular (Potential).|LDL-receptor class B 18. 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) TGAACTACCCCAGAAGTCTTA 0.418 TSP Lung(27;0.18) 7 32 --- --- --- --- PASS NEB 4703 broad.mit.edu 37 2 152427088 152427088 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:152427088T>C uc010fnx.2 - 80 12129 c.11938A>G c.(11938-11940)ATG>GTG p.M3980V NEB_uc002txr.2_Missense_Mutation_p.M403V NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3980 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) CCCGCCTTCATTTCATCCCAG 0.483 5 9 --- --- --- --- PASS SCN2A 6326 broad.mit.edu 37 2 166210793 166210793 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:166210793A>G uc002udc.2 + 17 3301 c.3011A>G c.(3010-3012)CAG>CGG p.Q1004R SCN2A_uc002udd.2_Missense_Mutation_p.Q1004R|SCN2A_uc002ude.2_Missense_Mutation_p.Q1004R NM_001040142 NP_001035232 Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha 1004 II. myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|breast(1)|pancreas(1) 8 Lamotrigine(DB00555) AATAATCTCCAGATTGCTGTG 0.383 27 75 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166870332 166870332 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:166870332C>A uc010zcz.1 - 18 3612 c.3594G>T c.(3592-3594)AGG>AGT p.R1198S SCN1A_uc002udo.3_Missense_Mutation_p.R1078S|SCN1A_uc010fpk.2_Missense_Mutation_p.R1050S NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1209 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GGAAACACGTCCTTCTCAGGT 0.398 13 19 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166870333 166870333 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:166870333C>T uc010zcz.1 - 18 3611 c.3593G>A c.(3592-3594)AGG>AAG p.R1198K SCN1A_uc002udo.3_Missense_Mutation_p.R1078K|SCN1A_uc010fpk.2_Missense_Mutation_p.R1050K NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1209 III. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GAAACACGTCCTTCTCAGGTT 0.398 13 20 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179605328 179605328 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:179605328C>A uc010zfh.1 - 46 12343 c.12119G>T c.(12118-12120)GGG>GTG p.G4040V TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.G3973V|TTN_uc010zfj.1_Missense_Mutation_p.G3848V|TTN_uc002umz.1_Intron NM_133437 NP_597681 Q8WZ42 TITIN_HUMAN titin isoform novex-2 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) TGGATAATTCCCTTCAGGTTC 0.388 15 71 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179665403 179665403 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:179665403G>A uc002und.2 - 4 527 c.302C>T c.(301-303)ACA>ATA p.T101I TTN_uc010zfg.1_Missense_Mutation_p.T101I|TTN_uc010zfh.1_Missense_Mutation_p.T101I|TTN_uc010zfi.1_Missense_Mutation_p.T101I|TTN_uc010zfj.1_Missense_Mutation_p.T101I|TTN_uc002unb.2_Missense_Mutation_p.T101I Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 101 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) GGGTGGTGCTGTCTCAGCTGC 0.498 20 40 --- --- --- --- PASS COL3A1 1281 broad.mit.edu 37 2 189876412 189876412 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:189876412G>T uc002uqj.1 + 51 4430 c.4313G>T c.(4312-4314)AGA>ATA p.R1438I NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1438 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) AAGGCTGTGAGACTACCTATT 0.393 9 30 --- --- --- --- PASS GLS 2744 broad.mit.edu 37 2 191795262 191795262 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:191795262G>T uc002usf.2 + 13 1789 c.1525G>T c.(1525-1527)GGC>TGC p.G509C GLS_uc002use.2_Missense_Mutation_p.G509C|GLS_uc002usg.1_Missense_Mutation_p.G170C|GLS_uc002ush.2_Missense_Mutation_p.G170C|GLS_uc010zgi.1_Missense_Mutation_p.G80C|GLS_uc010zgj.1_Missense_Mutation_p.G14C NM_014905 NP_055720 O94925 GLSK_HUMAN glutaminase precursor 509 cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity ovary(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) GGATAAGATGGGCAACAGTGT 0.398 16 52 --- --- --- --- PASS TRAK2 66008 broad.mit.edu 37 2 202250994 202250994 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:202250994G>T uc002uyb.3 - 14 2356 c.1910C>A c.(1909-1911)CCA>CAA p.P637Q NM_015049 NP_055864 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 637 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding 0 CCCTGTTACTGGCTTGGATGT 0.418 4 26 --- --- --- --- PASS ABCA12 26154 broad.mit.edu 37 2 215843761 215843761 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:215843761G>A uc002vew.2 - 32 4964 c.4744C>T c.(4744-4746)CCA>TCA p.P1582S ABCA12_uc002vev.2_Missense_Mutation_p.P1264S|ABCA12_uc010zjn.1_Missense_Mutation_p.P509S NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 1582 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTTAAATTTGGACTCTAAGAG 0.458 12 38 --- --- --- --- PASS RHBDD1 84236 broad.mit.edu 37 2 227773574 227773574 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:227773574A>C uc002voi.2 + 5 813 c.692A>C c.(691-693)CAA>CCA p.Q231P RHBDD1_uc010fxc.2_Missense_Mutation_p.Q231P|RHBDD1_uc002voj.2_Missense_Mutation_p.Q62P NM_032276 NP_115652 Q8TEB9 RHBD1_HUMAN rhomboid domain containing 1 231 integral to membrane serine-type endopeptidase activity ovary(1) 1 Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248) Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175) CCAGGACGGCAATACTACTTT 0.318 12 28 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228884383 228884383 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:228884383G>T uc002vpq.2 - 7 1234 c.1187C>A c.(1186-1188)GCA>GAA p.A396E SPHKAP_uc002vpp.2_Missense_Mutation_p.A396E|SPHKAP_uc010zlx.1_Missense_Mutation_p.A396E NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 396 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CACGGATTCTGCTAAATTTGT 0.448 19 37 --- --- --- --- PASS SPHKAP 80309 broad.mit.edu 37 2 228996713 228996713 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:228996713T>C uc002vpq.2 - 2 168 c.121A>G c.(121-123)ATC>GTC p.I41V SPHKAP_uc002vpp.2_Missense_Mutation_p.I41V|SPHKAP_uc010zlx.1_Missense_Mutation_p.I41V NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN sphingosine kinase type 1-interacting protein 41 cytoplasm protein binding skin(5)|ovary(4)|lung(1) 10 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CAGGCTGTGATGGAGTTCCCC 0.473 12 28 --- --- --- --- PASS ALPP 250 broad.mit.edu 37 2 233245354 233245354 + Missense_Mutation SNP T G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:233245354T>G uc002vsq.2 + 8 1052 c.887T>G c.(886-888)ATG>AGG p.M296R ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 296 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) CCTGGAGACATGAAATACGAG 0.627 4 36 --- --- --- --- PASS UGT1A3 54659 broad.mit.edu 37 2 234638577 234638577 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:234638577A>G uc002vuy.2 + 1 805 c.805A>G c.(805-807)ATC>GTC p.I269V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Intron|UGT1A9_uc002vus.2_Intron|UGT1A7_uc010zmx.1_Intron|UGT1A7_uc002vut.2_Intron|UGT1A6_uc002vuu.2_Intron|UGT1A6_uc010zmy.1_Intron|UGT1A6_uc002vuv.3_Intron|UGT1A5_uc010zmz.1_Intron|UGT1A5_uc002vuw.2_Intron|UGT1A4_uc010zna.1_Intron|UGT1A4_uc002vux.2_Intron|UGT1A3_uc010znb.1_Missense_Mutation_p.I269V NM_019093 NP_061966 P35503 UD13_HUMAN UDP glycosyltransferase 1 family, polypeptide A3 269 flavonoid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(1) 1 Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128) Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599) CCCCAGGCCAATCATGCCCAA 0.507 31 78 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238277716 238277716 + Nonsense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:238277716G>A uc002vwl.2 - 10 4675 c.4390C>T c.(4390-4392)CGA>TGA p.R1464* COL6A3_uc002vwo.2_Nonsense_Mutation_p.R1258*|COL6A3_uc010znj.1_Nonsense_Mutation_p.R857* NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1464 VWFA 8.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTGAGTCTTCGAACAATCCTG 0.473 5 33 --- --- --- --- PASS FARP2 9855 broad.mit.edu 37 2 242407665 242407665 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr2:242407665G>A uc002wbi.1 + 18 2121 c.2004G>A c.(2002-2004)AAG>AAA p.K668K NM_014808 NP_055623 O94887 FARP2_HUMAN FERM, RhoGEF and pleckstrin domain protein 2 668 DH. axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction cytoskeleton|cytosol|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121) AGCTGCAGAAGGTCTGCTACT 0.552 28 48 --- --- --- --- PASS MYH15 22989 broad.mit.edu 37 3 108147433 108147433 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:108147433T>A uc003dxa.1 - 28 3725 c.3668A>T c.(3667-3669)CAG>CTG p.Q1223L NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1223 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 CTTGACCTGCTGTAGATTTTC 0.483 30 85 --- --- --- --- PASS DPPA2 151871 broad.mit.edu 37 3 109023411 109023411 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:109023411C>A uc003dxo.2 - 7 1012 c.765G>T c.(763-765)AGG>AGT p.R255S NM_138815 NP_620170 Q7Z7J5 DPPA2_HUMAN developmental pluripotency associated 2 255 nucleus nucleic acid binding ovary(2)|upper_aerodigestive_tract(1) 3 AAATCATCCTCCTGTGAGTGG 0.517 5 67 --- --- --- --- PASS ABHD10 55347 broad.mit.edu 37 3 111698038 111698038 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:111698038C>G uc003dyk.3 + 1 211 c.130C>G c.(130-132)CGG>GGG p.R44G ABHD10_uc011bhq.1_5'UTR NM_018394 NP_060864 Q9NUJ1 ABHDA_HUMAN abhydrolase domain containing 10 precursor 44 mitochondrion serine-type peptidase activity 0 GCGGGCGCCACGGTGGCTCCC 0.662 14 24 --- --- --- --- PASS DTX3L 151636 broad.mit.edu 37 3 122288682 122288682 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:122288682C>T uc003efk.2 + 3 1835 c.1746C>T c.(1744-1746)TGC>TGT p.C582C DTX3L_uc010hrj.2_Intron NM_138287 NP_612144 Q8TDB6 DTX3L_HUMAN deltex 3-like 582 RING-type. histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GBM - Glioblastoma multiforme(114;0.0459) ATGAATTCTGCGCCCCTTGTA 0.453 7 155 --- --- --- --- PASS SEMA5B 54437 broad.mit.edu 37 3 122645282 122645282 + Silent SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:122645282A>G uc003efz.1 - 9 1397 c.1093T>C c.(1093-1095)TTG>CTG p.L365L SEMA5B_uc011bju.1_Silent_p.L307L|SEMA5B_uc003ega.1_RNA|SEMA5B_uc003egb.1_Silent_p.L365L|SEMA5B_uc010hro.1_Silent_p.L307L|SEMA5B_uc010hrp.1_RNA NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN semaphorin 5B isoform 1 365 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity ovary(2)|breast(2)|pancreas(2)|central_nervous_system(1) 7 GBM - Glioblastoma multiforme(114;0.0367) TGCTCCGGCAAGTGGAAGGCA 0.602 11 18 --- --- --- --- PASS ALG1L 200810 broad.mit.edu 37 3 125651529 125651529 + Nonsense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:125651529C>A uc003eig.1 - 3 288 c.124G>T c.(124-126)GGA>TGA p.G42* NM_001015050 NP_001015050 Q6GMV1 ALG1L_HUMAN asparagine-linked glycosylation 1-like 42 transferase activity, transferring glycosyl groups 0 AGGTTGTGTCCATCAAGAGTA 0.373 5 84 --- --- --- --- PASS SOX14 8403 broad.mit.edu 37 3 137483975 137483975 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:137483975G>C uc003erm.1 + 1 397 c.349G>C c.(349-351)GGC>CGC p.G117R NM_004189 NP_004180 O95416 SOX14_HUMAN SRY-box 14 117 negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent nucleus sequence-specific DNA binding 0 GGCCTCCGACGGCCTCCTGAG 0.692 15 6 --- --- --- --- PASS CLSTN2 64084 broad.mit.edu 37 3 140281797 140281797 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:140281797A>C uc003etn.2 + 14 2547 c.2357A>C c.(2356-2358)GAG>GCG p.E786A NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 786 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 TTCAACTTGGAGGTGAGTGGG 0.552 HNSCC(16;0.037) 11 28 --- --- --- --- PASS SLITRK3 22865 broad.mit.edu 37 3 164906580 164906580 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:164906580C>A uc003fej.3 - 2 2483 c.2039G>T c.(2038-2040)CGA>CTA p.R680L SLITRK3_uc003fek.2_Missense_Mutation_p.R680L NM_014926 NP_055741 O94933 SLIK3_HUMAN slit and trk like 3 protein precursor 680 Cytoplasmic (Potential). integral to membrane ovary(6)|skin(3)|pancreas(1) 10 TCGACGCCTTCGGAGCACGTA 0.522 HNSCC(40;0.11) 48 36 --- --- --- --- PASS GOLIM4 27333 broad.mit.edu 37 3 167758633 167758633 + Nonsense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:167758633C>A uc003ffe.2 - 7 969 c.625G>T c.(625-627)GAG>TAG p.E209* GOLIM4_uc011bpe.1_Nonsense_Mutation_p.E209*|GOLIM4_uc011bpf.1_Intron|GOLIM4_uc011bpg.1_Intron NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 209 Potential.|Golgi targeting.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TGTTCATGCTCGGAGAGTAAA 0.413 4 106 --- --- --- --- PASS SAMD7 344658 broad.mit.edu 37 3 169644749 169644749 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:169644749C>G uc003fgd.2 + 6 966 c.699C>G c.(697-699)AGC>AGG p.S233R SAMD7_uc003fge.2_Missense_Mutation_p.S233R|SAMD7_uc011bpo.1_Missense_Mutation_p.S134R NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 233 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AAGCACCCAGCAACCAGAAGT 0.483 75 86 --- --- --- --- PASS PRKCI 5584 broad.mit.edu 37 3 170002300 170002300 + Silent SNP G A A rs146346249 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:170002300G>A uc003fgs.2 + 12 1357 c.1119G>A c.(1117-1119)GGG>GGA p.G373G NM_002740 NP_002731 P41743 KPCI_HUMAN protein kinase C, iota 373 Protein kinase. anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport cytosol|endosome|nucleus|polarisome ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding lung(2)|ovary(1)|breast(1)|skin(1) 5 all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) ATGAGCGAGGGATAATTTATA 0.318 20 41 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178917478 178917478 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:178917478G>A uc003fjk.2 + 3 510 c.353G>A c.(352-354)GGT>GAT p.G118D NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 118 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 p.G118D(6) 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) TTTATTAAAGGTTTTGCTATC 0.338 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 9 21 --- --- --- --- PASS ACTL6A 86 broad.mit.edu 37 3 179287884 179287884 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:179287884G>T uc003fjw.2 + 3 305 c.132G>T c.(130-132)GTG>GTT p.V44V ACTL6A_uc003fjx.2_Silent_p.V2V|ACTL6A_uc003fjy.2_Silent_p.V2V NM_004301 NP_004292 O96019 ACL6A_HUMAN actin-like 6A isoform 1 44 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding ovary(1) 1 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TTGGTATGGTGGTAGAAAGAG 0.408 5 94 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195515841 195515841 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:195515841G>A uc011bto.1 - 2 3070 c.2610C>T c.(2608-2610)GGC>GGT p.G870G MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.G752G NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 875 Ser-rich. cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GATGAAAGGTGCCGGGGACGA 0.592 9 18 --- --- --- --- PASS RNF168 165918 broad.mit.edu 37 3 196199439 196199439 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:196199439T>C uc003fwq.2 - 6 1505 c.967A>G c.(967-969)AAA>GAA p.K323E RNF168_uc010iah.2_Missense_Mutation_p.K156E|uc010iag.1_5'Flank NM_152617 NP_689830 Q8IYW5 RN168_HUMAN ring finger protein 168 323 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) CATAACTCTTTCCCATGATTG 0.468 9 59 --- --- --- --- PASS NCAPG 64151 broad.mit.edu 37 4 17826672 17826672 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:17826672G>A uc003gpp.2 + 10 1641 c.1465G>A c.(1465-1467)GAA>AAA p.E489K NCAPG_uc011bxj.1_5'UTR NM_022346 NP_071741 Q9BPX3 CND3_HUMAN chromosome condensation protein G 489 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding large_intestine(1) 1 STAD - Stomach adenocarcinoma(129;0.18) AAGAAAGAAAGAACTCAAGGT 0.388 4 9 --- --- --- --- PASS DHX15 1665 broad.mit.edu 37 4 24578074 24578074 + Nonsense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:24578074G>C uc003gqx.2 - 2 467 c.299C>G c.(298-300)TCA>TGA p.S100* NM_001358 NP_001349 O43143 DHX15_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 15 100 mRNA processing U12-type spliceosomal complex ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity ovary(1) 1 Breast(46;0.0503) GGCATGCGTTGAATGAGCAGA 0.453 35 73 --- --- --- --- PASS SLC34A2 10568 broad.mit.edu 37 4 25677904 25677904 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:25677904T>A uc003grr.2 + 13 1687 c.1606T>A c.(1606-1608)TTC>ATC p.F536I SLC34A2_uc003grs.2_Missense_Mutation_p.F535I|SLC34A2_uc010iev.2_Missense_Mutation_p.F535I NM_006424 NP_006415 O95436 NPT2B_HUMAN solute carrier family 34 (sodium phosphate), 536 Helical; Name=M7; (Potential). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity skin(3)|ovary(1)|kidney(1) 5 Breast(46;0.0503) CCTGATCATCTTCTTCTTCCT 0.607 52 85 --- --- --- --- PASS UGDH 7358 broad.mit.edu 37 4 39511414 39511414 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:39511414C>A uc003guk.1 - 6 1093 c.777G>T c.(775-777)CAG>CAT p.Q259H UGDH_uc011byp.1_Missense_Mutation_p.Q162H|UGDH_uc003gul.1_Missense_Mutation_p.Q192H NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 259 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) TTCCAATTCTCTGGTCCATTC 0.323 19 25 --- --- --- --- PASS YIPF7 285525 broad.mit.edu 37 4 44631420 44631420 + Silent SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:44631420C>G uc010ifx.1 - 4 515 c.498G>C c.(496-498)CTG>CTC p.L166L YIPF7_uc010ify.1_3'UTR NM_182592 NP_872398 Q8N8F6 YIPF7_HUMAN Yip1 domain family, member 7 166 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane 0 GACACATTACCAGAAGCAAGG 0.438 5 9 --- --- --- --- PASS COX7B2 170712 broad.mit.edu 37 4 46736995 46736995 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:46736995C>A uc003gxf.2 - 3 395 c.215G>T c.(214-216)AGA>ATA p.R72I COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 72 Mitochondrial intermembrane (By similarity). integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 TGGGGTAACTCTGCCAACAGG 0.428 16 27 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47548682 47548682 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:47548682G>C uc003gxk.1 + 10 1602 c.1438G>C c.(1438-1440)GAA>CAA p.E480Q ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.E465Q NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 480 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 CTCTGAAGATGAAGATTTTAT 0.468 5 83 --- --- --- --- PASS EREG 2069 broad.mit.edu 37 4 75246733 75246733 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:75246733C>G uc003hie.1 + 3 323 c.157C>G c.(157-159)CAG>GAG p.Q53E EREG_uc003hid.2_Missense_Mutation_p.Q47E NM_001432 NP_001423 O14944 EREG_HUMAN epiregulin preproprotein 53 angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing extracellular space|integral to plasma membrane epidermal growth factor receptor binding|growth factor activity breast(1)|skin(1) 2 Lung(101;0.196) TTTTACAGTTCAGACAGAAGA 0.398 17 55 --- --- --- --- PASS NAAA 27163 broad.mit.edu 37 4 76852392 76852392 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:76852392C>T uc003hjb.2 - 4 628 c.564G>A c.(562-564)AAG>AAA p.K188K NAAA_uc003hja.2_Silent_p.K188K|NAAA_uc003hjc.3_Silent_p.K188K|NAAA_uc003hjd.3_RNA|NAAA_uc011cbq.1_Silent_p.K87K NM_014435 NP_055250 Q02083 NAAA_HUMAN N-acylethanolamine acid amidase isoform 1 188 lipid metabolic process lysosome hydrolase activity skin(1) 1 AAACTGTAAACTTGTGTGGGC 0.393 10 22 --- --- --- --- PASS QRFPR 84109 broad.mit.edu 37 4 122301679 122301679 + Nonsense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:122301679C>A uc010inj.1 - 1 503 c.124G>T c.(124-126)GGA>TGA p.G42* QRFPR_uc010ink.1_RNA|QRFPR_uc003ids.2_Nonsense_Mutation_p.G42*|QRFPR_uc010inl.1_Nonsense_Mutation_p.G42* NM_198179 NP_937822 Q96P65 QRFPR_HUMAN G protein-coupled receptor 103 42 Extracellular (Potential). plasma membrane neuropeptide Y receptor activity 0 TTGGCGCGTCCCGGCAGCTCT 0.657 7 3 --- --- --- --- PASS TRPC3 7222 broad.mit.edu 37 4 122825537 122825537 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:122825537C>A uc003ieg.2 - 8 2267 c.2193G>T c.(2191-2193)ATG>ATT p.M731I TRPC3_uc010inr.2_Missense_Mutation_p.M603I|TRPC3_uc003ief.2_Missense_Mutation_p.M658I|TRPC3_uc011cgl.1_Missense_Mutation_p.M395I NM_001130698 NP_001124170 Q13507 TRPC3_HUMAN transient receptor potential cation channel, 646 Helical; (Potential). axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity ovary(2) 2 AAACGACCACCATAGTTACAT 0.328 8 15 --- --- --- --- PASS TBC1D9 23158 broad.mit.edu 37 4 141592006 141592006 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:141592006C>T uc010ioj.2 - 7 1406 c.1134G>A c.(1132-1134)ATG>ATA p.M378I NM_015130 NP_055945 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 378 intracellular calcium ion binding|Rab GTPase activator activity ovary(1) 1 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) ATAGGAAGGTCATCCTGTTTC 0.448 10 88 --- --- --- --- PASS TMEM144 55314 broad.mit.edu 37 4 159136383 159136383 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:159136383G>T uc003ipx.2 + 4 670 c.150G>T c.(148-150)TTG>TTT p.L50F TMEM144_uc010iqi.2_RNA NM_018342 NP_060812 Q7Z5S9 TM144_HUMAN transmembrane protein 144 50 Helical; (Potential). integral to membrane 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0539) CCATATGGTTGGTTGCCTTGG 0.398 5 61 --- --- --- --- PASS KLKB1 3818 broad.mit.edu 37 4 187159519 187159519 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr4:187159519G>T uc003iyy.2 + 6 669 c.598G>T c.(598-600)GGT>TGT p.G200C KLKB1_uc011clc.1_5'UTR|KLKB1_uc011cld.1_Missense_Mutation_p.G162C NM_000892 NP_000883 P03952 KLKB1_HUMAN plasma kallikrein B1 precursor 200 blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis cytoplasm|extracellular space|plasma membrane serine-type endopeptidase activity ovary(1) 1 all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168) TTCAGAAATTGGTAATTGTAG 0.289 19 22 --- --- --- --- PASS SLC9A3 6550 broad.mit.edu 37 5 485314 485314 + Silent SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:485314C>G uc003jbe.2 - 4 820 c.708G>C c.(706-708)GCG>GCC p.A236A SLC9A3_uc011clx.1_Silent_p.A236A NM_004174 NP_004165 P48764 SL9A3_HUMAN solute carrier family 9 (sodium/hydrogen 236 Extracellular (Potential). cell surface|integral to membrane sodium:hydrogen antiporter activity 0 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CACCTCCCAGCGCCACGAAAG 0.632 95 39 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9202306 9202306 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:9202306G>C uc003jek.2 - 9 1405 c.693C>G c.(691-693)TTC>TTG p.F231L NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 231 Sema.|Extracellular (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CTCGGAAAAAGAAGTAGGTAA 0.433 18 105 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13714594 13714594 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:13714594C>A uc003jfd.2 - 75 13087 c.13045G>T c.(13045-13047)GAT>TAT p.D4349Y DNAH5_uc003jfc.2_Missense_Mutation_p.D517Y NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4349 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) CGGGTCTCATCCCCTCCACCA 0.587 Kartagener_syndrome 11 123 --- --- --- --- PASS CDH18 1016 broad.mit.edu 37 5 19591282 19591282 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:19591282C>G uc003jgc.2 - 6 1260 c.883G>C c.(883-885)GCT>CCT p.A295P CDH18_uc003jgd.2_Missense_Mutation_p.A295P|CDH18_uc011cnm.1_Missense_Mutation_p.A295P NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 295 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCAGTGTCAGCATCATTTGCC 0.403 18 37 --- --- --- --- PASS OSMR 9180 broad.mit.edu 37 5 38919038 38919038 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:38919038C>G uc003jln.1 + 11 1826 c.1459C>G c.(1459-1461)CCA>GCA p.P487A OSMR_uc011cpj.1_5'UTR NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 487 Fibronectin type-III 2.|Extracellular (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) CCATTCCATTCCAGCACCAGC 0.438 19 135 --- --- --- --- PASS PLCXD3 345557 broad.mit.edu 37 5 41382017 41382017 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:41382017C>T uc003jmm.1 - 2 825 c.723G>A c.(721-723)TCG>TCA p.S241S NM_001005473 NP_001005473 Q63HM9 PLCX3_HUMAN phosphatidylinositol-specific phospholipase C, X 241 intracellular signal transduction|lipid catabolic process phospholipase C activity|signal transducer activity skin(2)|urinary_tract(1)|ovary(1)|lung(1)|central_nervous_system(1) 6 ATATAAAAAACGATCCCTTCT 0.502 19 112 --- --- --- --- PASS FAM169A 26049 broad.mit.edu 37 5 74101044 74101044 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:74101044C>G uc003kdm.2 - 7 779 c.736G>C c.(736-738)GGA>CGA p.G246R FAM169A_uc010izm.2_Missense_Mutation_p.G186R|FAM169A_uc003kdl.2_Missense_Mutation_p.G64R NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 246 0 TACCAGTGTCCAACACCTTCA 0.383 16 8 --- --- --- --- PASS FTMT 94033 broad.mit.edu 37 5 121187749 121187749 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:121187749C>T uc003kss.2 + 1 100 c.91C>T c.(91-93)CGT>TGT p.R31C NM_177478 NP_803431 Q8N4E7 FTMT_HUMAN ferritin mitochondrial precursor 31 cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity mitochondrion ferric iron binding|ferroxidase activity ovary(1) 1 all_cancers(142;0.0124)|Prostate(80;0.0322) KIRC - Kidney renal clear cell carcinoma(527;0.206) Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027) GCTCCCGCTGCGTTGGGCCCC 0.766 8 1 --- --- --- --- PASS HARS 3035 broad.mit.edu 37 5 140056476 140056476 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:140056476G>T uc003lgv.2 - 10 1039 c.957C>A c.(955-957)TCC>TCA p.S319S HARS_uc003lgu.2_Silent_p.S250S|HARS_uc011czm.1_Silent_p.S279S|HARS_uc003lgw.2_Silent_p.S299S|HARS_uc011czn.1_Silent_p.S259S|HARS_uc010jfu.2_Silent_p.S319S|HARS_uc011czo.1_Silent_p.S245S|HARS_uc011czp.1_Silent_p.S205S|HARS_uc011czq.1_Silent_p.S209S NM_002109 NP_002100 P12081 SYHC_HUMAN histidyl-tRNA synthetase 319 histidyl-tRNA aminoacylation cytosol ATP binding|histidine-tRNA ligase activity ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) L-Histidine(DB00117) TCAGGTCAAAGGAGATCTGTG 0.552 5 82 --- --- --- --- PASS PCDHB13 56123 broad.mit.edu 37 5 140594237 140594237 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:140594237T>A uc003lja.1 + 1 729 c.542T>A c.(541-543)GTC>GAC p.V181D NM_018933 NP_061756 Q9Y5F0 PCDBD_HUMAN protocadherin beta 13 precursor 181 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TATTTTCGGGTCCTCACCCGC 0.498 7 34 --- --- --- --- PASS PCDHGB3 56102 broad.mit.edu 37 5 140750236 140750236 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:140750236G>A uc003ljw.1 + 1 275 c.275G>A c.(274-276)CGA>CAA p.R92Q 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_uc011dat.1_Missense_Mutation_p.R92Q NM_018924 NP_061747 Q9Y5G1 PCDGF_HUMAN protocadherin gamma subfamily B, 3 isoform 1 92 Extracellular (Potential).|Cadherin 1. 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) CGTATAGACCGAGAGGAGATT 0.443 15 164 --- --- --- --- PASS GLRA1 2741 broad.mit.edu 37 5 151239385 151239385 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:151239385A>T uc003lut.2 - 4 724 c.437T>A c.(436-438)CTA>CAA p.L146Q GLRA1_uc003lur.2_Missense_Mutation_p.L146Q|GLRA1_uc003lus.2_Missense_Mutation_p.L63Q NM_001146040 NP_001139512 P23415 GLRA1_HUMAN glycine receptor, alpha 1 isoform 1 precursor 146 Extracellular (Probable). muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity ovary(1)|central_nervous_system(1) 2 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GGAGATCCTTAGCAATTTGTT 0.527 26 32 --- --- --- --- PASS GEMIN5 25929 broad.mit.edu 37 5 154316660 154316660 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:154316660G>T uc003lvx.3 - 2 335 c.252C>A c.(250-252)ACC>ACA p.T84T GEMIN5_uc011ddk.1_Silent_p.T84T NM_015465 NP_056280 Q8TEQ6 GEMI5_HUMAN gemin 5 84 WD 1. ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding skin(2)|ovary(1) 3 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CGTCGGAGCTGGTGGCACAGA 0.473 5 70 --- --- --- --- PASS SGCD 6444 broad.mit.edu 37 5 156186285 156186285 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:156186285C>A uc003lwd.3 + 8 1230 c.754C>A c.(754-756)CCT>ACT p.P252T SGCD_uc003lwc.3_Missense_Mutation_p.P253T NM_001128209 NP_001121681 Q92629 SGCD_HUMAN delta-sarcoglycan isoform 3 252 Extracellular (Potential). cytoskeleton organization|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma 0 Renal(175;0.00488) Medulloblastoma(196;0.0378)|all_neural(177;0.106) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ATCCTACACGCCTACAGGAAC 0.493 44 24 --- --- --- --- PASS TIMD4 91937 broad.mit.edu 37 5 156381726 156381726 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:156381726G>A uc003lwh.2 - 2 157 c.100C>T c.(100-102)CAC>TAC p.H34Y TIMD4_uc010jii.2_Missense_Mutation_p.H34Y NM_138379 NP_612388 Q96H15 TIMD4_HUMAN T-cell immunoglobulin and mucin domain 34 Ig-like V-type.|Extracellular (Potential). integral to membrane ovary(2) 2 Renal(175;0.00488) Medulloblastoma(196;0.0523)|all_neural(177;0.21) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GTCACCCGGTGACCCAAAACC 0.512 11 4 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160097495 160097495 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:160097495C>T uc003lym.1 - 7 1497 c.650G>A c.(649-651)TGT>TAT p.C217Y ATP10B_uc003lyp.2_Missense_Mutation_p.C217Y|ATP10B_uc011deg.1_Missense_Mutation_p.C261Y|ATP10B_uc003lyo.2_Missense_Mutation_p.C189Y NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 217 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTTCACGACACATCTTTGCTT 0.463 37 54 --- --- --- --- PASS ODZ2 57451 broad.mit.edu 37 5 167671566 167671566 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:167671566C>A uc010jjd.2 + 26 5635 c.5635C>A c.(5635-5637)CTG>ATG p.L1879M ODZ2_uc003lzr.3_Missense_Mutation_p.L1649M|ODZ2_uc003lzt.3_Missense_Mutation_p.L1252M|ODZ2_uc010jje.2_Missense_Mutation_p.L1143M NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CAGCAGCGGGCTGGCAGCTGT 0.577 29 14 --- --- --- --- PASS FOXI1 2299 broad.mit.edu 37 5 169535450 169535450 + Silent SNP G T T rs56128152 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr5:169535450G>T uc003mai.3 + 2 1017 c.972G>T c.(970-972)CCG>CCT p.P324P FOXI1_uc003maj.3_Silent_p.P229P NM_012188 NP_036320 Q12951 FOXI1_HUMAN forkhead box I1 isoform a 324 epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity 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|transcription regulatory region DNA binding breast(3)|central_nervous_system(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCTTCTCCCCGCTCACCAACC 0.622 Pendred_syndrome 15 12 --- --- --- --- PASS F13A1 2162 broad.mit.edu 37 6 6224962 6224962 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:6224962G>T uc003mwv.2 - 7 1053 c.930C>A c.(928-930)GTC>GTA p.V310V F13A1_uc011dib.1_Silent_p.V247V NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 310 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) GGCCATACCGGACTGGATTCT 0.443 49 82 --- --- --- --- PASS RREB1 6239 broad.mit.edu 37 6 7231198 7231198 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:7231198G>T uc003mxc.2 + 10 3256 c.2866G>T c.(2866-2868)GCC>TCC p.A956S RREB1_uc003mxb.2_Missense_Mutation_p.A956S|RREB1_uc010jnx.2_Missense_Mutation_p.A956S NM_001003698 NP_001003698 Q92766 RREB1_HUMAN ras responsive element binding protein 1 isoform 956 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1) 11 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) TCCCAGCGAAGCCAAGAAGCC 0.612 8 9 --- --- --- --- PASS HIST1H3B 8358 broad.mit.edu 37 6 26032069 26032069 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:26032069C>T uc003nfs.1 - 1 220 c.220G>A c.(220-222)GAA>AAA p.E74K NM_003537 NP_003528 P68431 H31_HUMAN histone cluster 1, H3b 74 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding ovary(2) 2 TGGGCGATTTCTCGCACCAGG 0.607 24 48 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28297448 28297448 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:28297448C>T uc003nla.2 - 2 413 c.13G>A c.(13-15)GAG>AAG p.E5K ZNF323_uc003nld.2_Missense_Mutation_p.E5K|ZNF323_uc010jra.2_Missense_Mutation_p.E5K|ZNF323_uc003nlb.2_Intron|ZNF323_uc010jrb.2_Intron|ZNF323_uc003nlc.2_Missense_Mutation_p.E5K NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 5 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TACTGTTCCTCTGTTGAAGCC 0.423 23 40 --- --- --- --- PASS OR14J1 442191 broad.mit.edu 37 6 29274902 29274902 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:29274902G>A uc011dln.1 + 1 436 c.436G>A c.(436-438)GTG>ATG p.V146M NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 146 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AGTGATAGCTGTGTGGATTGC 0.483 34 45 --- --- --- --- PASS STK19 8859 broad.mit.edu 37 6 31948290 31948290 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:31948290C>T uc003nyv.2 + 6 1006 c.878C>T c.(877-879)CCT>CTT p.P293L STK19_uc003nyt.2_Missense_Mutation_p.P246L|STK19_uc011dox.1_Missense_Mutation_p.P250L|STK19_uc003nyw.2_Missense_Mutation_p.P289L|STK19_uc010jtn.1_RNA|C4A_uc011doy.1_5'Flank|C4A_uc011doz.1_5'Flank|C4A_uc011dpa.1_5'Flank NM_032454 NP_115830 P49842 STK19_HUMAN serine/threonine kinase 19 isoform 2 293 nucleus ATP binding|protein binding|protein serine/threonine kinase activity skin(4) 4 CTAGCTGTGCCTGGAGCTGGG 0.587 9 12 --- --- --- --- PASS MEP1A 4224 broad.mit.edu 37 6 46787396 46787396 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:46787396G>A uc010jzh.1 + 7 553 c.511G>A c.(511-513)GAC>AAC p.D171N MEP1A_uc011dwg.1_5'UTR|MEP1A_uc011dwh.1_Missense_Mutation_p.D199N|MEP1A_uc011dwi.1_Missense_Mutation_p.D71N NM_005588 NP_005579 Q16819 MEP1A_HUMAN meprin A alpha precursor 171 Extracellular (Potential).|Metalloprotease. digestion|proteolysis extracellular space|integral to plasma membrane|soluble fraction metalloendopeptidase activity|zinc ion binding pancreas(2)|ovary(1) 3 Lung(136;0.192) GTCAAGGACGGACCGGGATGA 0.478 6 135 --- --- --- --- PASS GPR116 221395 broad.mit.edu 37 6 46826157 46826157 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:46826157G>A uc003oyo.3 - 17 3772 c.3483C>T c.(3481-3483)GTC>GTT p.V1161V GPR116_uc011dwj.1_Silent_p.V716V|GPR116_uc011dwk.1_Silent_p.V590V|GPR116_uc003oyp.3_Silent_p.V1019V|GPR116_uc003oyq.3_Silent_p.V1161V|GPR116_uc010jzi.1_Silent_p.V833V NM_001098518 NP_001091988 Q8IZF2 GP116_HUMAN G-protein coupled receptor 116 precursor 1161 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|skin(1) 2 Lung(136;0.192) TGAGCCAACAGACATTCTTCC 0.547 15 19 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50740417 50740417 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:50740417C>A uc003paf.2 + 8 1711 c.1199C>A c.(1198-1200)ACA>AAA p.T400K TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 400 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) ACTTTCCAAACAGTTCTCAGT 0.458 16 33 --- --- --- --- PASS GCLC 2729 broad.mit.edu 37 6 53372322 53372322 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:53372322T>C uc003pbw.1 - 9 1428 c.1040A>G c.(1039-1041)GAC>GGC p.D347G GCLC_uc003pbv.1_Missense_Mutation_p.D71G NM_001498 NP_001489 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 347 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding ovary(1)|central_nervous_system(1) 2 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) TATCGTCAAGTCGATGTCATT 0.383 14 45 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 72974741 72974741 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:72974741C>G uc003pga.2 + 20 3257 c.3180C>G c.(3178-3180)CAC>CAG p.H1060Q RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Missense_Mutation_p.H277Q|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1060 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) GCAGTTCTCACTGGAATATTT 0.383 3 7 --- --- --- --- PASS KHDC1 80759 broad.mit.edu 37 6 73951416 73951416 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:73951416G>C uc003pgo.2 - 5 1051 c.550C>G c.(550-552)CTG>GTG p.L184V KHDC1_uc011dyl.1_Intron|KHDC1_uc003pgn.3_Missense_Mutation_p.L111V NM_030568 NP_085045 Q4VXA5 KHDC1_HUMAN KH homology domain containing 1 184 integral to membrane RNA binding skin(1) 1 TCGTTGGTCAGAGGCTGGCTT 0.567 6 65 --- --- --- --- PASS CNR1 1268 broad.mit.edu 37 6 88854319 88854319 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:88854319C>T uc011dzq.1 - 2 4238 c.675G>A c.(673-675)AAG>AAA p.K225K CNR1_uc010kbz.2_Silent_p.K225K|CNR1_uc011dzr.1_Silent_p.K225K|CNR1_uc011dzs.1_Silent_p.K225K|CNR1_uc003pmq.3_Silent_p.K225K|CNR1_uc011dzt.1_Silent_p.K225K|CNR1_uc010kca.2_Silent_p.K192K NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 225 Cytoplasmic (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) TGACAATCCTCTTATAGGCCA 0.597 10 17 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101103640 101103640 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:101103640T>C uc003pqk.2 - 17 3087 c.2758A>G c.(2758-2760)ACT>GCT p.T920A ASCC3_uc011eai.1_Missense_Mutation_p.T822A NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 920 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TAAAGATAAGTGTAACTTATC 0.333 5 16 --- --- --- --- PASS LAMA4 3910 broad.mit.edu 37 6 112463333 112463333 + Silent SNP G A A rs35772073 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:112463333G>A uc003pvu.2 - 20 2964 c.2655C>T c.(2653-2655)CTC>CTT p.L885L LAMA4_uc003pvv.2_Silent_p.L878L|LAMA4_uc003pvt.2_Silent_p.L878L NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 885 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTTGCTTCCGAGGTACAGGA 0.453 23 48 --- --- --- --- PASS GJA1 2697 broad.mit.edu 37 6 121767995 121767995 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:121767995T>A uc003pyr.2 + 2 252 c.2T>A c.(1-3)ATG>AAG p.M1K GJA1_uc011ebo.1_5'UTR|GJA1_uc011ebp.1_5'UTR NM_000165 NP_000156 P17302 CXA1_HUMAN connexin 43 1 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity ovary(2) 2 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) CCAGGCAACATGGGTGACTGG 0.443 48 68 --- --- --- --- PASS C6orf58 352999 broad.mit.edu 37 6 127901587 127901587 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:127901587T>C uc003qbh.2 + 3 578 c.566T>C c.(565-567)TTT>TCT p.F189S NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 189 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TGGAACACCTTTTACCAGGTT 0.378 7 17 --- --- --- --- PASS L3MBTL3 84456 broad.mit.edu 37 6 130363886 130363886 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:130363886T>A uc003qbt.2 + 3 212 c.42T>A c.(40-42)GAT>GAA p.D14E L3MBTL3_uc003qbu.2_Missense_Mutation_p.D14E NM_032438 NP_115814 Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 isoform a 14 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ovary(5)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) AAGAGTTTGATGTGTTCAGTG 0.388 11 24 --- --- --- --- PASS PHACTR2 9749 broad.mit.edu 37 6 144093534 144093534 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:144093534G>T uc003qjq.3 + 7 1469 c.1339G>T c.(1339-1341)GGG>TGG p.G447W PHACTR2_uc010khh.2_Missense_Mutation_p.G367W|PHACTR2_uc010khi.2_Missense_Mutation_p.G458W|PHACTR2_uc003qjr.3_Missense_Mutation_p.G378W NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 447 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) TGACTCGGACGGGCCTATCTT 0.517 8 15 --- --- --- --- PASS UTRN 7402 broad.mit.edu 37 6 144768768 144768768 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:144768768C>T uc003qkt.2 + 15 1845 c.1753C>T c.(1753-1755)CAA>TAA p.Q585* UTRN_uc010khq.1_Nonsense_Mutation_p.Q585* NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 585 Interaction with SYNM.|Spectrin 4. 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) AATGAAGCGTCAAACATTGGA 0.388 23 59 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152642923 152642923 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:152642923A>T uc010kiw.2 - 83 16618 c.16016T>A c.(16015-16017)GTT>GAT p.V5339D SYNE1_uc003qot.3_Missense_Mutation_p.V5268D|SYNE1_uc003qou.3_Missense_Mutation_p.V5339D|SYNE1_uc010kiz.2_Missense_Mutation_p.V1094D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 5339 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGTTTCCTGAACCCAACATTT 0.398 HNSCC(10;0.0054) 12 26 --- --- --- --- PASS IGF2R 3482 broad.mit.edu 37 6 160491005 160491005 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:160491005T>A uc003qta.2 + 31 4506 c.4358T>A c.(4357-4359)CTG>CAG p.L1453Q NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1453 10.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) ATAATTGTCCTGAAATACGTT 0.557 11 9 --- --- --- --- PASS PDE10A 10846 broad.mit.edu 37 6 165752791 165752791 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr6:165752791C>T uc003qun.2 - 21 2365 c.2124G>A c.(2122-2124)AAG>AAA p.K708K PDE10A_uc011egj.1_RNA|PDE10A_uc011egk.1_Silent_p.K638K|PDE10A_uc003quo.2_Silent_p.K718K NM_006661 NP_006652 Q9Y233 PDE10_HUMAN phosphodiesterase 10A isoform 2 708 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding ovary(3)|skin(2) 5 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) CTTCATCCTTCTTGTCTCTGT 0.353 7 36 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4900374 4900374 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:4900374C>A uc003snk.2 - 1 1252 c.1068G>T c.(1066-1068)AAG>AAT p.K356N RADIL_uc003sng.1_Intron|RADIL_uc011jwd.1_Intron|RADIL_uc003snj.1_Intron NM_020144 NP_064529 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 355 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding ovary(1) 1 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) ACCACTCTGCCTTACTTAGCA 0.403 35 38 --- --- --- --- PASS ISPD 729920 broad.mit.edu 37 7 16341084 16341084 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:16341084T>C uc010ktx.2 - 5 797 c.797A>G c.(796-798)TAC>TGC p.Y266C ISPD_uc010kty.2_Missense_Mutation_p.Y216C NM_001101426 NP_001094896 A4D126 ISPD_HUMAN notch1-induced protein isoform a 266 isoprenoid biosynthetic process nucleotidyltransferase activity ovary(1) 1 ATCTCGTTTGTAGGTCACCTA 0.383 Multiple Myeloma(15;0.18) 16 11 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21892087 21892087 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:21892087G>T uc003svc.2 + 68 10951 c.10920G>T c.(10918-10920)TTG>TTT p.L3640F NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3640 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTTATTAGTTGGTATTGACAA 0.294 Kartagener_syndrome 4 36 --- --- --- --- PASS DBNL 28988 broad.mit.edu 37 7 44100498 44100498 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:44100498G>A uc003tjp.3 + 13 1374 c.1276G>A c.(1276-1278)GTG>ATG p.V426M DBNL_uc003tjo.3_Missense_Mutation_p.V427M|DBNL_uc003tjr.3_Missense_Mutation_p.V299M|DBNL_uc003tjq.3_Missense_Mutation_p.V435M|DBNL_uc011kbm.1_Missense_Mutation_p.V402M|DBNL_uc011kbn.1_Missense_Mutation_p.V323M|DBNL_uc011kbo.1_Missense_Mutation_p.V327M|DBNL_uc011kbp.1_Missense_Mutation_p.V378M|DBNL_uc011kbq.1_Missense_Mutation_p.V351M|DBNL_uc011kbr.1_Missense_Mutation_p.V375M|DBNL_uc011kbs.1_Missense_Mutation_p.V331M NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 426 SH3. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 TGCCAACTACGTGGAGCTCAT 0.577 11 22 --- --- --- --- PASS AEBP1 165 broad.mit.edu 37 7 44153224 44153224 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:44153224C>A uc003tkb.2 + 21 3146 c.2841C>A c.(2839-2841)AAC>AAA p.N947K AEBP1_uc003tkc.3_Missense_Mutation_p.N522K|AEBP1_uc003tkd.2_Missense_Mutation_p.N197K NM_001129 NP_001120 Q8IUX7 AEBP1_HUMAN adipocyte enhancer binding protein 1 precursor 947 Interaction with PTEN (By similarity).|Required for transcriptional repression (By similarity). cell adhesion|muscle organ development|proteolysis|skeletal system development cytoplasm|extracellular space|nucleus DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAATCTTGAACCCGGGTGAGT 0.512 4 38 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45697428 45697428 + Silent SNP C T T rs142228376 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:45697428C>T uc003tne.3 + 6 1269 c.1251C>T c.(1249-1251)GAC>GAT p.D417D ADCY1_uc003tnd.2_Silent_p.D192D NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 417 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) GGCAGTACGACGTGTGGTCCA 0.627 9 13 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57188613 57188613 + Nonsense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:57188613G>T uc010kzo.2 - 5 780 c.509C>A c.(508-510)TCA>TAA p.S170* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) ATTGGAATTTGAAAATTTACC 0.299 11 20 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82579540 82579540 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:82579540C>T uc003uhx.2 - 6 10653 c.10364G>A c.(10363-10365)CGG>CAG p.R3455Q PCLO_uc003uhv.2_Missense_Mutation_p.R3455Q|PCLO_uc010lec.2_Missense_Mutation_p.R420Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3386 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 CACATAGCTCCGATCTGTGGC 0.428 28 38 --- --- --- --- PASS ABCB4 5244 broad.mit.edu 37 7 87053341 87053341 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:87053341G>A uc003uiv.1 - 17 2168 c.2092C>T c.(2092-2094)CTG>TTG p.L698L ABCB4_uc003uiw.1_Silent_p.L698L|ABCB4_uc003uix.1_Silent_p.L698L NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 698 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) AGGACCTTCAGAAAGGACACT 0.398 43 64 --- --- --- --- PASS SAMD9 54809 broad.mit.edu 37 7 92733928 92733928 + Missense_Mutation SNP T G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:92733928T>G uc003umf.2 - 3 1739 c.1483A>C c.(1483-1485)AAT>CAT p.N495H SAMD9_uc003umg.2_Missense_Mutation_p.N495H NM_017654 NP_060124 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 495 cytoplasm ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) AACCTGCCATTGCAGAAAATC 0.383 18 38 --- --- --- --- PASS PON1 5444 broad.mit.edu 37 7 95025658 95025658 + Missense_Mutation SNP C G G rs146627952 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:95025658C>G uc011kih.1 - 1 30 c.5G>C c.(4-6)GGG>GCG p.G2A PON3_uc003unt.2_Missense_Mutation_p.G2A|PON3_uc011kii.1_Missense_Mutation_p.G2A P27169 PON1_HUMAN SubName: Full=cDNA FLJ57644, highly similar to Serum paraoxonase/arylesterase 1 (EC 3.1.1.2); 2 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity pancreas(1) 1 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) CACGAGCTTCCCCATGGTCTC 0.701 16 34 --- --- --- --- PASS OCM2 4951 broad.mit.edu 37 7 97619402 97619402 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:97619402G>T uc003upc.2 - 1 15 c.15C>A c.(13-15)GAC>GAA p.D5E NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 5 calcium ion binding 0 CACTGAGCACGTCCGTGATGC 0.557 14 44 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100346014 100346014 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:100346014G>T uc003uwj.2 + 11 1335 c.1170G>T c.(1168-1170)GGG>GGT p.G390G ZAN_uc003uwk.2_Silent_p.G390G|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 390 MAM 3.|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) AGACTTCCGGGGATGGTGGAC 0.542 28 25 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100683043 100683043 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:100683043C>A uc003uxp.1 + 3 8399 c.8346C>A c.(8344-8346)GTC>GTA p.V2782V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2782 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|45. 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) GCATACCTGTCACCACTTCTA 0.473 65 197 --- --- --- --- PASS CADPS2 93664 broad.mit.edu 37 7 122047709 122047709 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:122047709C>A uc010lkp.2 - 19 2794 c.2631G>T c.(2629-2631)GAG>GAT p.E877D CADPS2_uc011knx.1_Missense_Mutation_p.E252D|CADPS2_uc003vkg.3_Missense_Mutation_p.E571D|CADPS2_uc010lkq.2_Missense_Mutation_p.E871D NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 877 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 CCCAAAATTTCTCTGCATGTT 0.383 15 25 --- --- --- --- PASS TAS2R16 50833 broad.mit.edu 37 7 122635373 122635373 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:122635373T>C uc003vkl.1 - 1 382 c.316A>G c.(316-318)AAG>GAG p.K106E NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 106 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 GAAGAGACCTTGATGCAGTAG 0.378 18 39 --- --- --- --- PASS METTL2B 55798 broad.mit.edu 37 7 128141953 128141953 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:128141953C>G uc003vnf.2 + 9 1157 c.1120C>G c.(1120-1122)CTG>GTG p.L374V METTL2B_uc003vng.2_Missense_Mutation_p.L309V|METTL2B_uc011kop.1_Missense_Mutation_p.L238V NM_018396 NP_060866 Q6P1Q9 MTL2B_HUMAN methyltransferase like 2B 374 methyltransferase activity skin(1) 1 CAAGCCCCTTCTGTCCAGCAC 0.458 59 108 --- --- --- --- PASS FAM71F1 84691 broad.mit.edu 37 7 128359064 128359064 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:128359064C>G uc003vno.1 + 3 667 c.614C>G c.(613-615)ACC>AGC p.T205S FAM71F1_uc010llo.1_Missense_Mutation_p.T106S|FAM71F1_uc011koq.1_Missense_Mutation_p.T97S|FAM71F1_uc003vnm.1_RNA|FAM71F1_uc003vnn.1_Missense_Mutation_p.T106S|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Missense_Mutation_p.T205S NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 205 skin(1) 1 TCCATCACCACCAAAGACCCT 0.507 34 74 --- --- --- --- PASS PLXNA4 91584 broad.mit.edu 37 7 131864554 131864554 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:131864554C>A uc003vra.3 - 20 3995 c.3766G>T c.(3766-3768)GTG>TTG p.V1256L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 1256 Helical; (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 GCAATGAGCACGGCCACGATG 0.622 6 11 --- --- --- --- PASS ZNF746 155061 broad.mit.edu 37 7 149191588 149191588 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:149191588G>A uc003wfw.2 - 2 302 c.31C>T c.(31-33)CCG>TCG p.P11S ZNF746_uc010lpi.2_Missense_Mutation_p.P11S NM_152557 NP_689770 Q6NUN9 ZN746_HUMAN zinc finger protein 746 isoform 2 11 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding ovary(2)|breast(1) 3 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) ATCGTCCACGGAGAAATCTTT 0.547 21 53 --- --- --- --- PASS GIMAP8 155038 broad.mit.edu 37 7 150171512 150171512 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:150171512G>C uc003whj.2 + 4 1425 c.1095G>C c.(1093-1095)AGG>AGC p.R365S NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 365 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TTCTTACCAGGAAAGAAGATT 0.383 46 85 --- --- --- --- PASS GALNTL5 168391 broad.mit.edu 37 7 151699823 151699823 + Missense_Mutation SNP G T T rs149988530 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:151699823G>T uc003wkp.2 + 6 906 c.683G>T c.(682-684)AGC>ATC p.S228I GALNTL5_uc003wkq.2_5'UTR|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.S117I NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 228 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTCCTGGACAGCCACTGTGAG 0.502 15 19 --- --- --- --- PASS PTPRN2 5799 broad.mit.edu 37 7 157926395 157926395 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:157926395C>T uc003wno.2 - 9 1651 c.1530G>A c.(1528-1530)GCG>GCA p.A510A PTPRN2_uc003wnp.2_Silent_p.A493A|PTPRN2_uc003wnq.2_Silent_p.A510A|PTPRN2_uc003wnr.2_Silent_p.A472A|PTPRN2_uc011kwa.1_Silent_p.A533A NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 510 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TGTAGCCCCGCGCCTCTTCCT 0.662 23 42 --- --- --- --- PASS EPB49 2039 broad.mit.edu 37 8 21937755 21937755 + Silent SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:21937755G>C uc011kyt.1 + 11 1129 c.900G>C c.(898-900)CGG>CGC p.R300R EPB49_uc010ltl.2_Silent_p.R300R|EPB49_uc011kys.1_Silent_p.R260R|EPB49_uc010ltn.2_Silent_p.R275R|EPB49_uc011kyu.1_Silent_p.R300R|EPB49_uc011kyv.1_Silent_p.R300R|EPB49_uc010ltq.2_Silent_p.R300R NM_001114136 NP_001107608 Q08495 DEMA_HUMAN erythrocyte membrane protein band 4.9 isoform 1 300 Interaction with RASGRF2. actin filament bundle assembly|actin filament capping actin cytoskeleton|nucleus actin binding central_nervous_system(1) 1 Colorectal(74;9.05e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0631) CCCTGAGCCGGGTAAGGTCTC 0.587 39 47 --- --- --- --- PASS NRG1 3084 broad.mit.edu 37 8 32463185 32463185 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:32463185C>A uc003xiv.2 + 3 901 c.384C>A c.(382-384)ACC>ACA p.T128T NRG1_uc003xip.2_Silent_p.T343T|NRG1_uc003xir.2_Silent_p.T128T|NRG1_uc010lvl.2_Silent_p.T128T|NRG1_uc010lvm.2_Silent_p.T128T|NRG1_uc010lvn.2_Silent_p.T128T|NRG1_uc003xis.2_Silent_p.T128T|NRG1_uc011lbf.1_Silent_p.T128T|NRG1_uc010lvo.2_Silent_p.T128T|NRG1_uc003xiu.2_Silent_p.T128T|NRG1_uc003xiw.2_Silent_p.T128T|NRG1_uc003xit.2_Silent_p.T128T|NRG1_uc010lvr.2_5'UTR|NRG1_uc010lvs.2_5'UTR|NRG1_uc010lvp.2_Silent_p.T94T|NRG1_uc010lvq.2_Silent_p.T94T|NRG1_uc003xix.2_Silent_p.T18T NM_013964 NP_039258 Q02297 NRG1_HUMAN neuregulin 1 isoform HRG-alpha 128 Extracellular (Potential).|Ig-like C2-type. activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCAATATCACCATCGTGGAAT 0.403 5 64 --- --- --- --- PASS C8orf22 492307 broad.mit.edu 37 8 49985441 49985441 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:49985441C>T uc003xqq.3 + 2 235 c.52C>T c.(52-54)CGA>TGA p.R18* NM_001007176 NP_001007177 Q8WWR9 PDPFL_HUMAN hypothetical protein LOC492307 18 0 all_cancers(86;0.0452)|all_epithelial(80;0.000863)|Lung NSC(129;0.0019)|all_lung(136;0.00502) TCAGTATTATCGAAGTAAGTT 0.413 69 69 --- --- --- --- PASS PCMTD1 115294 broad.mit.edu 37 8 52773466 52773466 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:52773466C>G uc003xqx.3 - 2 587 c.246G>C c.(244-246)TTG>TTC p.L82F PCMTD1_uc003xqw.3_Missense_Mutation_p.L82F|PCMTD1_uc011ldn.1_Intron|PCMTD1_uc010lya.2_Intron|PCMTD1_uc011ldo.1_Missense_Mutation_p.L82F NM_052937 NP_443169 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) 82 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity 0 Lung NSC(129;0.0795)|all_lung(136;0.144) TAAGAAAAGACAATCCTGGTT 0.328 25 23 --- --- --- --- PASS C8orf34 116328 broad.mit.edu 37 8 69699678 69699678 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:69699678G>C uc010lyz.2 + 12 1247 c.1198G>C c.(1198-1200)GAT>CAT p.D400H C8orf34_uc003xyb.2_Missense_Mutation_p.D375H NM_052958 NP_443190 Q49A92 CH034_HUMAN hypothetical protein LOC116328 400 signal transduction cAMP-dependent protein kinase regulator activity large_intestine(1) 1 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) TCTTTTGCAGGATGAATCCTT 0.348 8 22 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77776369 77776369 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:77776369G>T uc003yav.2 + 11 10671 c.10284G>T c.(10282-10284)GAG>GAT p.E3428D NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3424 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) TGCACAAAGAGAAAACAATCA 0.448 HNSCC(33;0.089) 53 55 --- --- --- --- PASS ZFAND1 79752 broad.mit.edu 37 8 82630427 82630427 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:82630427C>T uc003ycj.1 - 2 102 c.88G>A c.(88-90)GGA>AGA p.G30R ZFAND1_uc010lzx.1_Missense_Mutation_p.G30R|ZFAND1_uc003yck.1_5'UTR NM_024699 NP_078975 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 30 AN1-type 1. zinc ion binding ovary(1) 1 CAAAATATTCCTGAACAATCA 0.264 10 36 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885761 88885761 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:88885761C>A uc003ydz.2 - 1 536 c.439G>T c.(439-441)GTG>TTG p.V147L NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 147 ovary(1) 1 GCAAGTCCCACGAAGCACAGC 0.542 43 28 --- --- --- --- PASS DCAF4L2 138009 broad.mit.edu 37 8 88885967 88885967 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:88885967A>G uc003ydz.2 - 1 330 c.233T>C c.(232-234)CTG>CCG p.L78P NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN WD repeat domain 21C 78 ovary(1) 1 GGTATTCGCCAGTATGCGGTT 0.542 52 54 --- --- --- --- PASS EIF3E 3646 broad.mit.edu 37 8 109226865 109226865 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:109226865G>A uc003ymu.2 - 10 1060 c.1032C>T c.(1030-1032)TTC>TTT p.F344F EIF3E_uc003ymt.2_Silent_p.F295F|EIF3E_uc003ymv.2_Silent_p.F251F|EIF3E_uc010mci.1_Intron NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 344 PCI. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GGATGCGACAGAAAGTCTCAA 0.353 31 36 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113240998 113240998 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:113240998G>A uc003ynu.2 - 70 11110 c.10951C>T c.(10951-10953)CTT>TTT p.L3651F CSMD3_uc003yns.2_Missense_Mutation_p.L2853F|CSMD3_uc003ynt.2_Missense_Mutation_p.L3611F|CSMD3_uc011lhx.1_Missense_Mutation_p.L3482F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3651 Helical; (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 TGTTTATAAAGATAAAATCCA 0.299 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 21 29 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113240999 113240999 + Nonsense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:113240999A>T uc003ynu.2 - 70 11109 c.10950T>A c.(10948-10950)TAT>TAA p.Y3650* CSMD3_uc003yns.2_Nonsense_Mutation_p.Y2852*|CSMD3_uc003ynt.2_Nonsense_Mutation_p.Y3610*|CSMD3_uc011lhx.1_Nonsense_Mutation_p.Y3481* NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3650 Helical; (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 GTTTATAAAGATAAAATCCAA 0.303 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 23 28 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113564935 113564935 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:113564935G>A uc003ynu.2 - 26 4408 c.4249C>T c.(4249-4251)CGT>TGT p.R1417C CSMD3_uc003yns.2_Missense_Mutation_p.R689C|CSMD3_uc003ynt.2_Missense_Mutation_p.R1377C|CSMD3_uc011lhx.1_Missense_Mutation_p.R1313C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1417 Extracellular (Potential).|CUB 8. 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 CCTTTAAAACGACCTCCACAT 0.353 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 11 45 --- --- --- --- PASS ZHX2 22882 broad.mit.edu 37 8 123965654 123965654 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:123965654A>G uc003ypk.1 + 3 2471 c.1904A>G c.(1903-1905)AAA>AGA p.K635R NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 635 Homeobox 4. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) GCAATTGCAAAAAGTCAAGAA 0.567 22 78 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131812772 131812772 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:131812772G>T uc003ytd.3 - 15 3216 c.2960C>A c.(2959-2961)TCC>TAC p.S987Y ADCY8_uc010mds.2_Missense_Mutation_p.S856Y NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 987 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TCCTGGGATGGAGGCAAACAT 0.493 HNSCC(32;0.087) 61 58 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139160773 139160773 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:139160773A>T uc003yuy.2 - 14 3609 c.3438T>A c.(3436-3438)CAT>CAA p.H1146Q FAM135B_uc003yux.2_Missense_Mutation_p.H1047Q|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.H708Q|FAM135B_uc003yvb.2_Missense_Mutation_p.W674R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 1146 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) CATCCAGGCCATGGACACAGA 0.348 HNSCC(54;0.14) 26 24 --- --- --- --- PASS BAI1 575 broad.mit.edu 37 8 143624780 143624780 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr8:143624780A>G uc003ywm.2 + 28 4613 c.4430A>G c.(4429-4431)TAT>TGT p.Y1477C NM_001702 NP_001693 O14514 BAI1_HUMAN brain-specific angiogenesis inhibitor 1 1477 Cytoplasmic (Potential).|Necessary for interaction with MAGI1. axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1) 8 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) AAGTCGCGGTATGCAGAACTG 0.632 13 19 --- --- --- --- PASS KIAA1432 57589 broad.mit.edu 37 9 5770270 5770270 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:5770270C>G uc003zji.2 + 22 3464 c.3371C>G c.(3370-3372)TCT>TGT p.S1124C KIAA1432_uc003zjl.3_Missense_Mutation_p.S1087C|ERMP1_uc011lme.1_Intron NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 1203 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TCACCTTTATCTAATAAAGGT 0.393 9 65 --- --- --- --- PASS TYRP1 7306 broad.mit.edu 37 9 12695754 12695754 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:12695754G>T uc003zkv.3 + 3 803 c.625G>T c.(625-627)GGT>TGT p.G209C NM_000550 NP_000541 P17643 TYRP1_HUMAN tyrosinase-related protein 1 precursor 209 Lumenal, melanosome (Potential). melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity lung(1) 1 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) GGAAAGCTTTGGTGAAGTGGA 0.433 Oculocutaneous_Albinism 4 47 --- --- --- --- PASS BNC2 54796 broad.mit.edu 37 9 16436420 16436420 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:16436420G>T uc003zml.2 - 6 1912 c.1772C>A c.(1771-1773)ACC>AAC p.T591N BNC2_uc011lmw.1_Missense_Mutation_p.T496N|BNC2_uc003zmm.2_Missense_Mutation_p.T549N|BNC2_uc003zmq.1_Missense_Mutation_p.T605N|BNC2_uc003zmr.1_Missense_Mutation_p.T628N|BNC2_uc003zmp.1_Missense_Mutation_p.T619N|BNC2_uc010mij.1_Missense_Mutation_p.T513N|BNC2_uc011lmv.1_Missense_Mutation_p.T417N|BNC2_uc003zmo.1_Missense_Mutation_p.T513N|BNC2_uc003zmj.2_Missense_Mutation_p.T356N|BNC2_uc003zmk.2_RNA|BNC2_uc003zmi.2_Missense_Mutation_p.T356N|BNC2_uc003zmn.1_Missense_Mutation_p.T356N NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 591 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) GATGGGACTGGTTGGGAGGGA 0.527 44 25 --- --- --- --- PASS KLHL9 55958 broad.mit.edu 37 9 21333994 21333994 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:21333994C>T uc003zoy.2 - 1 1436 c.865G>A c.(865-867)GAT>AAT p.D289N KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 289 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) GCAGTTCTATCTGACTGCATC 0.423 7 56 --- --- --- --- PASS UBAP2 55833 broad.mit.edu 37 9 33923422 33923422 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:33923422G>T uc003ztq.1 - 25 2964 c.2851C>A c.(2851-2853)CCC>ACC p.P951T UBAP2_uc011loc.1_Missense_Mutation_p.P860T|UBAP2_uc011lod.1_Missense_Mutation_p.P684T|UBAP2_uc011loe.1_Missense_Mutation_p.P706T|UBAP2_uc011lof.1_Missense_Mutation_p.P876T|UBAP2_uc003ztn.1_Missense_Mutation_p.P190T|UBAP2_uc003zto.1_Missense_Mutation_p.P190T|UBAP2_uc003ztp.1_Missense_Mutation_p.P190T NM_018449 NP_060919 Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 951 ovary(3) 3 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGCTGGAAGGGAGGTGTGGGA 0.587 7 209 --- --- --- --- PASS CREB3 10488 broad.mit.edu 37 9 35736623 35736623 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:35736623G>A uc003zxv.2 + 9 1469 c.1016G>A c.(1015-1017)CGA>CAA p.R339Q CREB3_uc010mla.2_Missense_Mutation_p.R258Q NM_006368 NP_006359 O43889 CREB3_HUMAN cAMP responsive element binding protein 3 363 Lumenal (Potential).|Pro-rich. chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|integral to membrane|nucleus|nucleus cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity 0 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GBM - Glioblastoma multiforme(74;0.0285) CCTCTCTGCCGAGGTCCCATC 0.582 OREG0019176 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 126 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119249690 119249690 + Missense_Mutation SNP C A A rs16933591 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:119249690C>A uc004bjs.1 - 20 3546 c.3445G>T c.(3445-3447)GTC>TTC p.V1149F ASTN2_uc004bjr.1_Missense_Mutation_p.V1145F|ASTN2_uc004bjt.1_Missense_Mutation_p.V1098F|ASTN2_uc004bjp.1_Missense_Mutation_p.V242F|ASTN2_uc004bjq.1_Missense_Mutation_p.V201F|ASTN2_uc011lxr.1_Missense_Mutation_p.V201F|ASTN2_uc011lxs.1_Missense_Mutation_p.V201F|ASTN2_uc011lxt.1_Missense_Mutation_p.V201F|ASTN2_uc004bjo.1_5'UTR NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 1149 Extracellular (Potential).|Fibronectin type-III. integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TAGATACTGACTTCAGGGACC 0.507 40 58 --- --- --- --- PASS ZNF79 7633 broad.mit.edu 37 9 130197393 130197393 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:130197393A>G uc004bqw.3 + 3 544 c.130A>G c.(130-132)ACG>GCG p.T44A ZNF79_uc011maf.1_Missense_Mutation_p.T20A|ZNF79_uc011mag.1_Missense_Mutation_p.T20A NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 CAGCAGTGTGACGGTAGCTTT 0.512 39 18 --- --- --- --- PASS MAN1B1 11253 broad.mit.edu 37 9 140002866 140002866 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:140002866C>T uc004cld.2 + 13 1958 c.1923C>T c.(1921-1923)ATC>ATT p.I641I MAN1B1_uc011mep.1_3'UTR|MAN1B1_uc010ncc.2_RNA|MAN1B1_uc004clf.1_Silent_p.I314I|MAN1B1_uc004clg.1_RNA NM_016219 NP_057303 Q9UKM7 MA1B1_HUMAN alpha 1,2-mannosidase 641 Lumenal (Potential). oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity ovary(1)|central_nervous_system(1) 2 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513) ATTCTTCCATCAACAATGTCC 0.602 8 79 --- --- --- --- PASS CACNA1B 774 broad.mit.edu 37 9 140773552 140773552 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:140773552G>A uc004cog.2 + 2 476 c.331G>A c.(331-333)GTG>ATG p.V111M uc004cof.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 111 Helical; Name=S1 of repeat I; (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CAACTGCATCGTGCTGGCCCT 0.647 5 39 --- --- --- --- PASS UPF2 26019 broad.mit.edu 37 10 12077311 12077311 + Nonsense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:12077311T>A uc001ila.2 - 1 586 c.112A>T c.(112-114)AAA>TAA p.K38* UPF2_uc001ilb.2_Nonsense_Mutation_p.K38*|UPF2_uc001ilc.2_Nonsense_Mutation_p.K38*|UPF2_uc009xiz.1_Nonsense_Mutation_p.K38* NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 38 Glu/Lys-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) ATATCGTCTTTTGGCCTCTCC 0.453 49 52 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15600177 15600177 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:15600177G>A uc001ioc.1 - 26 2662 c.2662C>T c.(2662-2664)CCT>TCT p.P888S ITGA8_uc010qcb.1_Missense_Mutation_p.P873S NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 888 Extracellular (Potential). cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CTGAGCTCAGGGGTGTCCTCT 0.458 14 17 --- --- --- --- PASS CUBN 8029 broad.mit.edu 37 10 16873262 16873262 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:16873262G>A uc001ioo.2 - 65 10569 c.10517C>T c.(10516-10518)TCA>TTA p.S3506L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3506 CUB 26. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGAGGGTGATGAAGTCCAGAT 0.368 5 48 --- --- --- --- PASS GPR158 57512 broad.mit.edu 37 10 25886869 25886869 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:25886869G>A uc001isj.2 + 11 2374 c.2314G>A c.(2314-2316)GAG>AAG p.E772K GPR158_uc001isk.2_Missense_Mutation_p.E147K NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 772 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 GTGCTCTAAAGAGGACAAGGA 0.572 13 117 --- --- --- --- PASS GAD2 2572 broad.mit.edu 37 10 26569943 26569943 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:26569943A>T uc001isp.2 + 12 1666 c.1163A>T c.(1162-1164)AAC>ATC p.N388I GAD2_uc001isq.2_Missense_Mutation_p.N388I NM_001134366 NP_001127838 Q05329 DCE2_HUMAN glutamate decarboxylase 2 388 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding central_nervous_system(1)|skin(1) 2 L-Glutamic Acid(DB00142) TTTAGGGCCAACTCTGTGACG 0.498 34 64 --- --- --- --- PASS APBB1IP 54518 broad.mit.edu 37 10 26830582 26830582 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:26830582G>A uc001iss.2 + 11 1437 c.1116G>A c.(1114-1116)ATG>ATA p.M372I APBB1IP_uc009xks.1_Missense_Mutation_p.M372I NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 372 PH. blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 AGCATAAAATGAAATATAAAG 0.303 9 26 --- --- --- --- PASS KIAA1462 57608 broad.mit.edu 37 10 30318360 30318360 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:30318360C>T uc001iux.2 - 2 776 c.717G>A c.(715-717)GAG>GAA p.E239E KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Silent_p.E101E|KIAA1462_uc009xle.1_Silent_p.E239E NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 239 ovary(4) 4 AACTCAGGCTCTCGGGGGAAA 0.458 34 68 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38407328 38407328 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:38407328G>A uc001izk.2 + 8 2068 c.1249G>A c.(1249-1251)GGG>AGG p.G417R ZNF37A_uc001izl.2_Missense_Mutation_p.G417R|ZNF37A_uc001izm.2_Missense_Mutation_p.G417R NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 417 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 TAATGAATGTGGGAAGTCATT 0.363 12 26 --- --- --- --- PASS ZNF37A 7587 broad.mit.edu 37 10 38407329 38407329 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:38407329G>T uc001izk.2 + 8 2069 c.1250G>T c.(1249-1251)GGG>GTG p.G417V ZNF37A_uc001izl.2_Missense_Mutation_p.G417V|ZNF37A_uc001izm.2_Missense_Mutation_p.G417V NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 417 C2H2-type 8. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AATGAATGTGGGAAGTCATTC 0.368 13 25 --- --- --- --- PASS C10orf72 196740 broad.mit.edu 37 10 50285339 50285339 + Missense_Mutation SNP C A A rs45489505 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:50285339C>A uc001jhf.2 - 4 588 c.559G>T c.(559-561)GTG>TTG p.V187L NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 187 Helical; (Potential). integral to membrane|plasma membrane 0 AGGATCCCCACGCAGCACACG 0.522 12 29 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50824633 50824633 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:50824633C>T uc001jhz.2 + 2 525 c.372C>T c.(370-372)CCC>CCT p.P124P CHAT_uc001jhv.1_Silent_p.P6P|CHAT_uc001jhx.1_Silent_p.P6P|CHAT_uc001jhy.1_Silent_p.P6P|CHAT_uc001jia.2_Silent_p.P6P|CHAT_uc010qgs.1_Silent_p.P6P NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 124 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CAAAAACTCCCAGCAGTGAGG 0.567 5 10 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55569209 55569209 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:55569209T>C uc010qhs.1 - 37 5011 c.4616A>G c.(4615-4617)GAG>GGG p.E1539G PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Missense_Mutation_p.E1532G|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment 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) GTATGTAGGCTCAGCTGCTGG 0.398 HNSCC(58;0.16) 35 45 --- --- --- --- PASS PCDH15 65217 broad.mit.edu 37 10 55569211 55569211 + Silent SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:55569211A>T uc010qhs.1 - 37 5009 c.4614T>A c.(4612-4614)GCT>GCA p.A1538A PCDH15_uc010qhq.1_Intron|PCDH15_uc010qhr.1_Intron|PCDH15_uc010qht.1_Silent_p.A1531A|PCDH15_uc010qhu.1_3'UTR NM_001142769 NP_001136241 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD2-1 precursor Error:Variant_position_missing_in_Q96QU1_after_alignment 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) ATGTAGGCTCAGCTGCTGGTG 0.393 HNSCC(58;0.16) 38 49 --- --- --- --- PASS DDIT4 54541 broad.mit.edu 37 10 74034808 74034808 + Silent SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:74034808C>G uc001jsx.1 + 3 763 c.561C>G c.(559-561)CCC>CCG p.P187P NM_019058 NP_061931 Q9NX09 DDIT4_HUMAN RTP801 187 apoptosis pancreas(1) 1 GACTCTGGCCCAAGATCCAGG 0.637 OREG0020262 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 13 --- --- --- --- PASS CDHR1 92211 broad.mit.edu 37 10 85973009 85973009 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:85973009G>T uc001kcv.2 + 16 1945 c.1945G>T c.(1945-1947)GAC>TAC p.D649Y CDHR1_uc001kcw.2_Missense_Mutation_p.D649Y|CDHR1_uc009xst.2_Missense_Mutation_p.D353Y|CDHR1_uc001kcx.2_5'UTR NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 649 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 ACCTGGAAGGGACTGCCTATG 0.577 24 61 --- --- --- --- PASS WAPAL 23063 broad.mit.edu 37 10 88260398 88260398 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:88260398G>C uc001kdo.2 - 3 1044 c.602C>G c.(601-603)GCT>GGT p.A201G WAPAL_uc001kdn.2_Missense_Mutation_p.A244G|WAPAL_uc009xsw.2_Missense_Mutation_p.A201G NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 201 Mediates interaction with the cohesin complex. cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 GATTTCAGAAGCCACTGTAGT 0.373 24 36 --- --- --- --- PASS LIPA 3988 broad.mit.edu 37 10 91005508 91005508 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:91005508G>T uc001kga.3 - 3 322 c.154C>A c.(154-156)CTA>ATA p.L52I LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|LIPA_uc009xtq.2_Missense_Mutation_p.L52I NM_000235 NP_000226 P38571 LICH_HUMAN lipase A precursor 52 lipid catabolic process lysosome lipase activity|sterol esterase activity 0 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) GTCTCAACTAGGTATTCCTCA 0.418 4 34 --- --- --- --- PASS LBX1 10660 broad.mit.edu 37 10 102987414 102987414 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:102987414G>A uc001ksx.2 - 2 604 c.459C>T c.(457-459)GCC>GCT p.A153A uc010qpy.1_5'Flank NM_006562 NP_006553 P52954 LBX1_HUMAN ladybird homeobox 1 153 Homeobox. muscle organ development sequence-specific DNA binding 0 Colorectal(252;0.234) Epithelial(162;3.22e-09)|all cancers(201;1.79e-07) GGTCGCGATCGGCGGGGGACA 0.582 10 68 --- --- --- --- PASS SORCS3 22986 broad.mit.edu 37 10 106960916 106960916 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:106960916G>A uc001kyi.1 + 16 2393 c.2166G>A c.(2164-2166)AAG>AAA p.K722K SORCS3_uc010qqz.1_RNA NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN VPS10 domain receptor protein SORCS 3 precursor 722 Lumenal (Potential). integral to membrane neuropeptide receptor activity ovary(6)|skin(3)|central_nervous_system(1) 10 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) AAATATTCAAGAAACGTAAGC 0.478 16 34 --- --- --- --- PASS C10orf96 374355 broad.mit.edu 37 10 118084555 118084555 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:118084555T>C uc001lck.2 + 2 283 c.32T>C c.(31-33)ATC>ACC p.I11T NM_198515 NP_940917 P0C7W6 CJ096_HUMAN hypothetical protein LOC374355 11 ovary(2) 2 Lung NSC(174;0.204)|all_lung(145;0.248) all cancers(201;0.014) CAGCACATCATCTTCACCGAG 0.522 6 22 --- --- --- --- PASS PNLIPRP3 119548 broad.mit.edu 37 10 118236315 118236315 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:118236315G>T uc001lcl.3 + 11 1425 c.1324G>T c.(1324-1326)GGG>TGG p.G442W NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 442 PLAT. lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) AAATACATCTGGGAAATATGG 0.303 11 22 --- --- --- --- PASS HSPA12A 259217 broad.mit.edu 37 10 118440730 118440730 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:118440730G>A uc001lct.2 - 9 1065 c.960C>T c.(958-960)ACC>ACT p.T320T HSPA12A_uc001lcu.2_Silent_p.T237T NM_025015 NP_079291 O43301 HS12A_HUMAN heat shock 70kDa protein 12A 320 ATP binding ovary(1) 1 all cancers(201;0.0158) TCAGGTCTACGGTGCCACCGC 0.488 10 23 --- --- --- --- PASS RGS10 6001 broad.mit.edu 37 10 121285580 121285580 + Silent SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:121285580T>C uc001lee.2 - 2 195 c.195A>G c.(193-195)GCA>GCG p.A65A RGS10_uc001lef.2_Silent_p.A59A|RGS10_uc001leg.2_Silent_p.A73A NM_002925 NP_002916 O43665 RGS10_HUMAN regulator of G-protein signaling 10 isoform b 65 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|protein binding|signal transducer activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195) AATCTTCACATGCTAGCCAAA 0.303 7 52 --- --- --- --- PASS PWWP2B 170394 broad.mit.edu 37 10 134219163 134219163 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr10:134219163G>A uc001lll.3 + 2 1188 c.1159G>A c.(1159-1161)GAG>AAG p.E387K PWWP2B_uc009ybe.2_Missense_Mutation_p.E387K NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 387 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) AAGTTCGGGTGAGGACGATGA 0.667 7 40 --- --- --- --- PASS NLRP6 171389 broad.mit.edu 37 11 278571 278571 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:278571T>C uc010qvs.1 + 1 2 c.2T>C c.(1-3)ATG>ACG p.M1T NLRP6_uc010qvt.1_Missense_Mutation_p.M1T NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 1 DAPIN. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) AGAGACCCCATGGACCAGCCA 0.647 24 20 --- --- --- --- PASS SIGIRR 59307 broad.mit.edu 37 11 408162 408162 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:408162C>T uc001lpd.2 - 4 581 c.251G>A c.(250-252)GGG>GAG p.G84E SIGIRR_uc001lpf.2_Missense_Mutation_p.G84E|SIGIRR_uc001lpe.1_Missense_Mutation_p.G84E|SIGIRR_uc001lpg.2_Missense_Mutation_p.G84E NM_001135054 NP_001128526 Q6IA17 SIGIR_HUMAN single Ig IL-1R-related molecule 84 Ig-like C2-type.|Extracellular (Potential). acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity integral to membrane protein binding|transmembrane receptor activity 0 all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) CACGTTGACCCCCAGGACACT 0.587 10 49 --- --- --- --- PASS HRAS 3265 broad.mit.edu 37 11 534286 534286 + Missense_Mutation SNP C A A rs104894228 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:534286C>A uc001lpv.2 - 2 225 c.37G>T c.(37-39)GGT>TGT p.G13C HRAS_uc010qvw.1_Missense_Mutation_p.G13C|HRAS_uc010qvx.1_Missense_Mutation_p.G13C|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 13 GTP. G -> D (in FCSS).|G -> C (in FCSS). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.G13R(34)|p.G13V(10)|p.G13D(9)|p.G13S(9)|p.G13C(6)|p.G13G(1)|p.G12_G13insAG(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TTGCCCACACCGCCGGCGCCC 0.642 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 13 7 --- --- --- --- PASS KRTAP5-6 440023 broad.mit.edu 37 11 1718593 1718593 + Missense_Mutation SNP T G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:1718593T>G uc001lua.2 + 1 169 c.118T>G c.(118-120)TGC>GGC p.C40G NM_001012416 NP_001012416 Q6L8G9 KRA56_HUMAN keratin associated protein 5-6 40 3.|6 X 4 AA repeats of C-C-X-P. keratin filament 0 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GCCCGTGTGCTGCTGTGTGCC 0.667 32 36 --- --- --- --- PASS ART5 116969 broad.mit.edu 37 11 3660919 3660919 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:3660919C>A uc001lyb.1 - 2 1133 c.740G>T c.(739-741)TGG>TTG p.W247L ART5_uc001lyc.1_Missense_Mutation_p.W247L|ART5_uc001lyd.2_Intron|ART5_uc009yea.2_Intron NM_053017 NP_443750 Q96L15 NAR5_HUMAN ADP-ribosyltransferase 5 precursor 247 extracellular region NAD(P)+-protein-arginine ADP-ribosyltransferase activity ovary(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19) ATTATAGCTCCAGAGAGTCAC 0.527 6 69 --- --- --- --- PASS OR52E8 390079 broad.mit.edu 37 11 5878375 5878375 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:5878375C>A uc010qzr.1 - 1 558 c.558G>T c.(556-558)GAG>GAT p.E186D TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN olfactory receptor, family 52, subfamily E, 186 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;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCCATGTGCTCACAATAAG 0.483 5 58 --- --- --- --- PASS OR52E4 390081 broad.mit.edu 37 11 5905533 5905533 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:5905533T>C uc010qzs.1 + 1 11 c.11T>C c.(10-12)ATC>ACC p.I4T TRIM5_uc001mbq.1_Intron NM_001005165 NP_001005165 Q8NGH9 O52E4_HUMAN olfactory receptor, family 52, subfamily E, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATGCCTTCTATCAATGACACC 0.428 23 29 --- --- --- --- PASS OR52B2 255725 broad.mit.edu 37 11 6190722 6190722 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:6190722C>A uc010qzy.1 - 1 835 c.835G>T c.(835-837)GCC>TCC p.A279S NM_001004052 NP_001004052 Q96RD2 O52B2_HUMAN olfactory receptor, family 52, subfamily B, 279 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAAGATTGGCCAGCAAGATA 0.448 12 17 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6655522 6655522 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:6655522C>T uc001mem.1 - 3 2223 c.1813G>A c.(1813-1815)GCG>ACG p.A605T NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 605 Cadherin 6.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCACTATCCGCGTCTGTGGCT 0.572 13 14 --- --- --- --- PASS HTATIP2 10553 broad.mit.edu 37 11 20398241 20398241 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:20398241A>G uc009yia.1 + 4 485 c.419A>G c.(418-420)AAT>AGT p.N140S HTATIP2_uc009yib.1_Missense_Mutation_p.N140S|HTATIP2_uc001mpx.2_Missense_Mutation_p.N174S|HTATIP2_uc001mpz.2_Missense_Mutation_p.N140S NM_006410 NP_006401 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa isoform 140 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity 0 AAATCAAGCAATTTTTTATAT 0.363 11 34 --- --- --- --- PASS OR4X2 119764 broad.mit.edu 37 11 48267476 48267476 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:48267476T>C uc001ngs.1 + 1 821 c.821T>C c.(820-822)CTG>CCG p.L274P NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACCGCGATCCTGAACCCTGTC 0.478 21 45 --- --- --- --- PASS OR4S1 256148 broad.mit.edu 37 11 48328071 48328071 + Silent SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:48328071C>G uc010rhu.1 + 1 297 c.297C>G c.(295-297)CTC>CTG p.L99L NM_001004725 NP_001004725 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, 99 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TGACCCAGCTCTTTTCTGCCC 0.493 3 49 --- --- --- --- PASS OR4A15 81328 broad.mit.edu 37 11 55136005 55136005 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:55136005G>T uc010rif.1 + 1 646 c.646G>T c.(646-648)GCT>TCT p.A216S NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 216 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 ATTGAAACTTGCTTGCACCAA 0.418 21 27 --- --- --- --- PASS OR5D18 219438 broad.mit.edu 37 11 55587663 55587663 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:55587663C>T uc010rin.1 + 1 558 c.558C>T c.(556-558)CTC>CTT p.L186L NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN olfactory receptor, family 5, subfamily D, 186 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.208) CCTCACTACTCTCCCTTTCTT 0.408 19 58 --- --- --- --- PASS ZFP91 80829 broad.mit.edu 37 11 58384716 58384716 + Nonsense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:58384716G>A uc001nmx.3 + 11 1418 c.1250G>A c.(1249-1251)TGG>TAG p.W417* ZFP91_uc001nmy.3_Nonsense_Mutation_p.W416*|ZFP91-CNTF_uc010rkm.1_RNA NM_053023 NP_444251 Q96JP5 ZFP91_HUMAN zinc finger protein 91 417 C2H2-type 4. activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination nucleus nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1) 1 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) TCTCTTAATTGGCACATGAAG 0.413 14 38 --- --- --- --- PASS OR5A1 219982 broad.mit.edu 37 11 59211431 59211431 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:59211431C>T uc001nnx.1 + 1 790 c.790C>T c.(790-792)CGA>TGA p.R264* NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 264 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 CGTGTACTTGCGACCCAGCTC 0.527 40 82 --- --- --- --- PASS GANAB 23193 broad.mit.edu 37 11 62402444 62402444 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:62402444T>A uc001nub.2 - 5 442 c.409A>T c.(409-411)AGT>TGT p.S137C GANAB_uc001nua.2_Missense_Mutation_p.S137C|GANAB_uc001nuc.2_Missense_Mutation_p.S40C|GANAB_uc010rma.1_Missense_Mutation_p.S23C|GANAB_uc010rmb.1_Missense_Mutation_p.S23C NM_198334 NP_938148 Q14697 GANAB_HUMAN neutral alpha-glucosidase AB isoform 2 137 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 AACTCCACACTGTTCTCATCA 0.463 46 41 --- --- --- --- PASS SLC22A12 116085 broad.mit.edu 37 11 64359261 64359261 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:64359261C>A uc001oam.1 + 1 980 c.233C>A c.(232-234)CCG>CAG p.P78Q SLC22A12_uc009ypr.1_Missense_Mutation_p.P78Q|SLC22A12_uc001oal.1_5'UTR|SLC22A12_uc009yps.1_Missense_Mutation_p.P78Q|SLC22A12_uc001oan.1_Missense_Mutation_p.P78Q|SLC22A12_uc009ypt.2_5'Flank NM_144585 NP_653186 Q96S37 S22AC_HUMAN urate anion exchanger 1 isoform a 78 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity ovary(1) 1 ATTTCCATCCCGCCGGGCCCC 0.692 8 11 --- --- --- --- PASS KDM2A 22992 broad.mit.edu 37 11 66983395 66983395 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:66983395G>T uc001ojw.2 + 8 1526 c.662G>T c.(661-663)TGG>TTG p.W221L KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_5'UTR NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 221 JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 ACCTCTGTTTGGTATCACATC 0.428 6 164 --- --- --- --- PASS MYEOV 26579 broad.mit.edu 37 11 69063118 69063118 + Missense_Mutation SNP C A A rs139486495 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:69063118C>A uc001oov.2 + 3 651 c.201C>A c.(199-201)TTC>TTA p.F67L MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.F67L|MYEOV_uc001oow.2_Missense_Mutation_p.F9L NM_138768 NP_620123 Q96EZ4 MYEOV_HUMAN myeloma overexpressed 67 0 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) CTGGACACTTCGTGGAGGGCT 0.582 4 50 --- --- --- --- PASS PGM2L1 283209 broad.mit.edu 37 11 74062614 74062614 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:74062614C>T uc001ovb.1 - 6 859 c.563G>A c.(562-564)TGG>TAG p.W188* NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 188 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) ACCAGTTTCCCAGTAAACCTA 0.328 8 22 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78380545 78380545 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:78380545T>A uc001ozl.3 - 32 7308 c.6845A>T c.(6844-6846)AAC>ATC p.N2282I ODZ4_uc001ozk.3_Missense_Mutation_p.N507I|ODZ4_uc009yvb.1_Missense_Mutation_p.N866I NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2282 Extracellular (Potential).|YD 21. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GCCAGCCCGGTTGTAGGCCTT 0.592 22 48 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85415985 85415985 + Silent SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:85415985T>C uc010rth.1 - 14 2466 c.2190A>G c.(2188-2190)CTA>CTG p.L730L SYTL2_uc010rtg.1_Silent_p.L731L|SYTL2_uc010rti.1_Silent_p.L706L|SYTL2_uc010rtj.1_Silent_p.L698L|SYTL2_uc001pav.2_Silent_p.L172L|SYTL2_uc010rte.1_Silent_p.L132L|SYTL2_uc001pax.2_Silent_p.L172L|SYTL2_uc001paz.2_Silent_p.L51L|SYTL2_uc001pba.2_Silent_p.L115L|SYTL2_uc001pay.2_Silent_p.L161L|SYTL2_uc001paw.2_Silent_p.L132L|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Silent_p.L1028L|SYTL2_uc001pbb.2_Silent_p.L1068L|SYTL2_uc001pbc.2_Silent_p.L1052L|SYTL2_uc010rtf.1_Silent_p.L548L NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 730 C2 1. intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) CCACCTCCCCTAGGAAACTAT 0.388 24 33 --- --- --- --- PASS PICALM 8301 broad.mit.edu 37 11 85701428 85701428 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:85701428T>C uc001pbm.2 - 13 1559 c.1273A>G c.(1273-1275)ACT>GCT p.T425A PICALM_uc001pbl.2_Intron|PICALM_uc001pbn.2_Intron|PICALM_uc010rtl.1_Intron|PICALM_uc010rtk.1_Intron|PICALM_uc001pbo.1_Missense_Mutation_p.T57A NM_007166 NP_009097 Q13492 PICAL_HUMAN phosphatidylinositol-binding clathrin assembly 425 clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane 1-phosphatidylinositol binding|clathrin heavy chain binding urinary_tract(1)|ovary(1) 2 Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092) GCATCTACAGTAGCAGAGAAA 0.338 T MLLT10|MLL TALL|AML| 6 19 --- --- --- --- PASS EED 8726 broad.mit.edu 37 11 85988171 85988171 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:85988171C>A uc001pbp.2 + 10 1573 c.1116C>A c.(1114-1116)TTC>TTA p.F372L EED_uc010rtm.1_Missense_Mutation_p.F372L|EED_uc001pbq.2_Missense_Mutation_p.F372L|EED_uc001pbr.2_Missense_Mutation_p.F397L|EED_uc001pbs.2_Missense_Mutation_p.F292L|EED_uc010rtn.1_RNA NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 372 Interaction with EZH2 (By similarity).|Required for interaction with the matrix protein MA of HIV-1.|WD 6. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) CTATGGATTTCTGGCAAAAGG 0.333 11 28 --- --- --- --- PASS NAALAD2 10003 broad.mit.edu 37 11 89911209 89911209 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:89911209G>A uc001pdf.3 + 16 1891 c.1782G>A c.(1780-1782)TTG>TTA p.L594L NAALAD2_uc009yvx.2_Silent_p.L561L|NAALAD2_uc009yvy.2_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 594 Extracellular (Potential). proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity pancreas(1)|skin(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) CAGAAGCTTTGAAAAACTATG 0.338 26 32 --- --- --- --- PASS ANGPTL5 253935 broad.mit.edu 37 11 101762074 101762074 + Nonsense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:101762074G>T uc001pgl.2 - 9 1699 c.1103C>A c.(1102-1104)TCA>TAA p.S368* NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 368 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CTTGACAGGTGAGTTGTTTTT 0.333 23 47 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108384542 108384542 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:108384542C>A uc001pkk.2 - 6 1803 c.1692G>T c.(1690-1692)GTG>GTT p.V564V EXPH5_uc010rvy.1_Silent_p.V376V|EXPH5_uc010rvz.1_Silent_p.V408V|EXPH5_uc010rwa.1_Silent_p.V488V NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 564 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) CATGTGATACCACCATGCTAT 0.438 4 31 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117351887 117351887 + Splice_Site SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:117351887A>T uc001prh.1 - 13 2838 c.2836_splice c.e13+1 p.E946_splice NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) AGGTGAAGGTACCTTGCACAG 0.627 6 23 --- --- --- --- PASS KCNJ1 3758 broad.mit.edu 37 11 128709173 128709173 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:128709173G>T uc001qeo.1 - 2 1074 c.1023C>A c.(1021-1023)TTC>TTA p.F341L KCNJ1_uc001qep.1_Missense_Mutation_p.F322L|KCNJ1_uc001qeq.1_Missense_Mutation_p.F322L|KCNJ1_uc001qer.1_Missense_Mutation_p.F322L|KCNJ1_uc001qes.1_Missense_Mutation_p.F322L NM_000220 NP_000211 P48048 IRK1_HUMAN potassium inwardly-rectifying channel J1 isoform 341 Cytoplasmic (By similarity). excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity ovary(3)|breast(1) 4 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) TAAAGTTATGGAAATCCACTC 0.483 14 23 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132016281 132016281 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:132016281G>T uc001qgp.2 + 2 937 c.273G>T c.(271-273)CTG>CTT p.L91L NTM_uc001qgm.2_Silent_p.L91L|NTM_uc010sch.1_Silent_p.L82L|NTM_uc010sci.1_Silent_p.L91L|NTM_uc010scj.1_Silent_p.L50L|NTM_uc001qgo.2_Silent_p.L91L|NTM_uc001qgq.2_Silent_p.L91L NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 91 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 TGGTCCTTCTGAGCAACACCC 0.567 22 43 --- --- --- --- PASS NTM 50863 broad.mit.edu 37 11 132180054 132180054 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:132180054A>C uc001qgp.2 + 5 1374 c.710A>C c.(709-711)CAA>CCA p.Q237P NTM_uc001qgm.2_Missense_Mutation_p.Q237P|NTM_uc010sch.1_Missense_Mutation_p.Q228P|NTM_uc010sci.1_Missense_Mutation_p.Q237P|NTM_uc010scj.1_Missense_Mutation_p.Q196P|NTM_uc001qgo.2_Missense_Mutation_p.Q237P|NTM_uc001qgq.2_Missense_Mutation_p.Q237P|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 237 Ig-like C2-type 3. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 CCCGTGGGACAAAAGGGGACA 0.483 42 83 --- --- --- --- PASS B3GAT1 27087 broad.mit.edu 37 11 134253897 134253897 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr11:134253897C>T uc001qhq.2 - 4 559 c.298G>A c.(298-300)GCC>ACC p.A100T B3GAT1_uc001qhr.2_Missense_Mutation_p.A100T|B3GAT1_uc010scv.1_Missense_Mutation_p.A113T NM_018644 NP_061114 Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 100 Lumenal (Potential). carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding ovary(1) 1 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) GTCAGCTCGGCCTTCTGCACC 0.716 6 5 --- --- --- --- PASS TULP3 7289 broad.mit.edu 37 12 3048522 3048522 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:3048522T>A uc010seh.1 + 11 1322 c.1241T>A c.(1240-1242)TTC>TAC p.F414Y TULP3_uc009zec.1_Missense_Mutation_p.F141Y|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.F414Y|TULP3_uc010sei.1_Missense_Mutation_p.F238Y NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 414 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GATGACGTGTTCACACTGGAT 0.433 54 77 --- --- --- --- PASS CHD4 1108 broad.mit.edu 37 12 6696922 6696922 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:6696922T>C uc001qpo.2 - 24 3823 c.3659A>G c.(3658-3660)AAA>AGA p.K1220R CHD4_uc001qpn.2_Missense_Mutation_p.K1213R|CHD4_uc001qpp.2_Missense_Mutation_p.K1217R NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1220 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 AGTGCCAAATTTGAGGATATC 0.493 24 32 --- --- --- --- PASS CLEC1A 51267 broad.mit.edu 37 12 10224077 10224077 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:10224077C>T uc001qxb.2 - 6 782 c.698G>A c.(697-699)AGC>AAC p.S233N CLEC1A_uc009zhf.2_Missense_Mutation_p.S145N|CLEC1A_uc001qxc.2_Missense_Mutation_p.S145N|CLEC1A_uc001qxd.2_Missense_Mutation_p.S190N|CLEC1A_uc010sgx.1_Missense_Mutation_p.S131N NM_016511 NP_057595 Q8NC01 CLC1A_HUMAN C-type lectin-like receptor-1 233 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane|intracellular sugar binding|transmembrane receptor activity ovary(1)|central_nervous_system(1) 2 ACAGTCTCTGCTTCTTGGGCT 0.383 33 83 --- --- --- --- PASS PRB2 653247 broad.mit.edu 37 12 11546665 11546665 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:11546665C>G uc010shk.1 - 3 382 c.347G>C c.(346-348)GGA>GCA p.G116A NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGAGA 0.597 10 372 --- --- --- --- PASS GPRC5A 9052 broad.mit.edu 37 12 13061863 13061863 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:13061863G>T uc001rba.2 + 2 1330 c.680G>T c.(679-681)TGG>TTG p.W227L GPRC5A_uc001raz.2_Missense_Mutation_p.W227L NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 227 Helical; Name=6; (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TGGGTGGCCTGGATCACCCTG 0.572 33 49 --- --- --- --- PASS GRIN2B 2904 broad.mit.edu 37 12 13724888 13724888 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:13724888G>C uc001rbt.2 - 10 2200 c.2021C>G c.(2020-2022)CCT>CGT p.P674R NM_000834 NP_000825 Q13224 NMDE2_HUMAN N-methyl-D-aspartate receptor subunit 2B 674 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding central_nervous_system(4)|ovary(3)|skin(3)|lung(2) 12 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GAAGTCATTAGGTCTCTGGAA 0.323 10 12 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21229461 21229461 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:21229461G>T uc010sil.1 + 15 2071 c.2006G>T c.(2005-2007)GGA>GTA p.G669V LST-3TM12_uc010sim.1_Missense_Mutation_p.G608V|LST-3TM12_uc010sin.1_Missense_Mutation_p.G561V Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) AACAGCTGTGGAGCACGAGGG 0.348 41 70 --- --- --- --- PASS GYS2 2998 broad.mit.edu 37 12 21712602 21712602 + Silent SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:21712602G>C uc001rfb.2 - 9 1467 c.1212C>G c.(1210-1212)CTC>CTG p.L404L NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 404 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 ATGCATCATAGAGTTTTTTTC 0.279 4 12 --- --- --- --- PASS PPFIBP1 8496 broad.mit.edu 37 12 27832534 27832534 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:27832534C>A uc001ric.1 + 19 2123 c.1746C>A c.(1744-1746)TCC>TCA p.S582S PPFIBP1_uc010sjr.1_Silent_p.S413S|PPFIBP1_uc001rib.1_Silent_p.S576S|PPFIBP1_uc001ria.2_Silent_p.S551S|PPFIBP1_uc001rid.1_Silent_p.S429S|PPFIBP1_uc001rif.1_Silent_p.S89S NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 582 cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CTCCAGATTCCAAAAAGAAAT 0.458 6 148 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 12 31282805 31282805 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:31282805T>A uc010sjy.1 - 24 3079 c.3079A>T c.(3079-3081)AGT>TGT p.S1027C RecName: Full=Ovostatin homolog 1; Flags: Precursor; GTAAGAGCACTGAGCCTGTAA 0.348 7 12 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49420600 49420600 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:49420600A>C uc001rta.3 - 48 15149 c.15149T>G c.(15148-15150)CTG>CGG p.L5050R NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5050 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GTCCAGGTTCAGCAGACGGGC 0.622 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 6 54 --- --- --- --- PASS ITGA5 3678 broad.mit.edu 37 12 54794636 54794636 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:54794636G>A uc001sga.2 - 25 2705 c.2637C>T c.(2635-2637)GGC>GGT p.G879G NM_002205 NP_002196 P08648 ITA5_HUMAN integrin alpha 5 precursor 879 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding ovary(2) 2 TCACCTCCAGGCCCTTTGGGT 0.572 12 19 --- --- --- --- PASS AGAP2 116986 broad.mit.edu 37 12 58135800 58135800 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:58135800G>T uc001spr.2 - 1 141 c.55C>A c.(55-57)CAT>AAT p.H19N TSPAN31_uc001spt.2_5'Flank|TSPAN31_uc009zqb.2_5'Flank NM_014770 NP_055585 Q99490 AGAP2_HUMAN centaurin, gamma 1 isoform PIKE-S Error:Variant_position_missing_in_Q99490_after_alignment 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 GCCACCTCATGTCGTCTGACT 0.587 22 46 --- --- --- --- PASS LEMD3 23592 broad.mit.edu 37 12 65633948 65633948 + Nonsense_Mutation SNP G T T rs147072982 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:65633948G>T uc001ssl.1 + 8 2062 c.2056G>T c.(2056-2058)GAA>TAA p.E686* LEMD3_uc009zqo.1_Nonsense_Mutation_p.E685* NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 686 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) AGCCTGCCAGGAAAACAAAGA 0.328 13 29 --- --- --- --- PASS HELB 92797 broad.mit.edu 37 12 66700214 66700214 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:66700214A>T uc001sti.2 + 3 725 c.697A>T c.(697-699)ATA>TTA p.I233L HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 233 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) TAAATGGATCATAGGGTCAGG 0.358 18 35 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81769626 81769626 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:81769626C>T uc001szo.1 - 10 1241 c.1080G>A c.(1078-1080)ATG>ATA p.M360I PPFIA2_uc010sue.1_Missense_Mutation_p.M260I|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 286 ovary(3)|lung(2)|pancreas(1) 6 GTTTATCATTCATGTCATGTA 0.408 8 15 --- --- --- --- PASS RASSF9 9182 broad.mit.edu 37 12 86199616 86199616 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:86199616C>T uc001taf.1 - 2 511 c.172G>A c.(172-174)GAG>AAG p.E58K NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 58 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 TCATGTTCCTCAAGCAAAGCC 0.488 39 91 --- --- --- --- PASS MYO1H 283446 broad.mit.edu 37 12 109849790 109849790 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:109849790C>T uc010sxn.1 + 13 1454 c.1454C>T c.(1453-1455)ACC>ATC p.T485I NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H Error:Variant_position_missing_in_B4DNW6_after_alignment myosin complex motor activity 0 CACTTCGAAACGTACATACTT 0.393 6 7 --- --- --- --- PASS DNAH10 196385 broad.mit.edu 37 12 124401007 124401007 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:124401007G>A uc001uft.3 + 62 10397 c.10372G>A c.(10372-10374)GCT>ACT p.A3458T NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3458 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTTCCAGGTCGCTTCCTTTAA 0.507 44 76 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133327335 133327335 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr12:133327335C>G uc001ukx.2 - 3 808 c.741G>C c.(739-741)GAG>GAC p.E247D ANKLE2_uc001uky.3_Missense_Mutation_p.E185D NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 247 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TAGCAAATTTCTCAGCGTCTT 0.393 12 33 --- --- --- --- PASS POSTN 10631 broad.mit.edu 37 13 38154048 38154048 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:38154048G>T uc001uwo.3 - 12 1728 c.1610C>A c.(1609-1611)ACC>AAC p.T537N POSTN_uc010tet.1_Missense_Mutation_p.T65N|POSTN_uc001uwp.3_Missense_Mutation_p.T537N|POSTN_uc001uwr.2_Missense_Mutation_p.T537N|POSTN_uc001uwq.2_Missense_Mutation_p.T537N|POSTN_uc010teu.1_Missense_Mutation_p.T537N|POSTN_uc010tev.1_Missense_Mutation_p.T537N|POSTN_uc010tew.1_Missense_Mutation_p.T537N|POSTN_uc010tex.1_Missense_Mutation_p.T452N NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 537 FAS1 4. 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) AGCATCATTGGTTGGCACAAA 0.408 14 29 --- --- --- --- PASS TRPC4 7223 broad.mit.edu 37 13 38357173 38357173 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:38357173G>T uc001uws.2 - 2 533 c.298C>A c.(298-300)CTA>ATA p.L100I TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Missense_Mutation_p.L100I|TRPC4_uc010tey.1_Missense_Mutation_p.L100I|TRPC4_uc010abw.2_Missense_Mutation_p.L100I|TRPC4_uc010abx.2_Missense_Mutation_p.L100I|TRPC4_uc010aby.2_Missense_Mutation_p.L100I NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 100 ANK 3.|Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) GCATGTAATAGAGCATCTCCA 0.264 11 20 --- --- --- --- PASS PCDH8 5100 broad.mit.edu 37 13 53419706 53419706 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:53419706C>G uc001vhi.2 - 2 2896 c.2693G>C c.(2692-2694)GGA>GCA p.G898A PCDH8_uc001vhj.2_Missense_Mutation_p.G801A NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 898 Cytoplasmic (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GAAGGAGTGTCCTTTCCACAC 0.587 11 29 --- --- --- --- PASS DIAPH3 81624 broad.mit.edu 37 13 60590048 60590048 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:60590048T>A uc001vht.2 - 7 989 c.770A>T c.(769-771)CAG>CTG p.Q257L DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Missense_Mutation_p.Q246L|DIAPH3_uc010aed.1_Missense_Mutation_p.Q211L|DIAPH3_uc010aee.1_Missense_Mutation_p.Q187L|uc001vhx.2_Intron|uc001vhy.2_Intron NM_001042517 NP_001035982 Q9NSV4 DIAP3_HUMAN diaphanous homolog 3 isoform a 257 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2) 2 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TGTACATACCTGCGTATTCAT 0.313 4 6 --- --- --- --- PASS UCHL3 7347 broad.mit.edu 37 13 76179926 76179926 + Missense_Mutation SNP C T T rs139878255 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:76179926C>T uc001vjq.2 + 9 701 c.671C>T c.(670-672)GCG>GTG p.A224V UCHL3_uc001vjr.2_Missense_Mutation_p.A188V NM_006002 NP_005993 P15374 UCHL3_HUMAN ubiquitin carboxyl-terminal esterase L3 224 Interaction with ubiquitin. ubiquitin-dependent protein catabolic process cytoplasm cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity 0 GBM - Glioblastoma multiforme(99;0.0125) AGATTTAATGCGATTGCTCTT 0.338 5 21 --- --- --- --- PASS FAM155A 728215 broad.mit.edu 37 13 107822900 107822900 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:107822900C>T uc001vql.2 - 3 1838 c.1322G>A c.(1321-1323)GGA>GAA p.G441E NM_001080396 NP_001073865 B1AL88 F155A_HUMAN family with sequence similarity 155, member A 441 integral to membrane binding skin(1) 1 AAAGCTCAGTCCGGCTGTGTT 0.527 15 25 --- --- --- --- PASS MYO16 23026 broad.mit.edu 37 13 109704819 109704819 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:109704819G>T uc001vqt.1 + 25 3104 c.2978G>T c.(2977-2979)AGT>ATT p.S993I MYO16_uc010agk.1_Missense_Mutation_p.S1015I|MYO16_uc001vqu.1_Missense_Mutation_p.S793I|MYO16_uc010tjh.1_Missense_Mutation_p.S505I NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 993 Myosin head-like 2. cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) CTAGAACTTAGTAAGGTAGGA 0.279 20 26 --- --- --- --- PASS CARKD 55739 broad.mit.edu 37 13 111290867 111290867 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:111290867G>C uc001vrb.2 + 10 1050 c.1036G>C c.(1036-1038)GAA>CAA p.E346Q CARKD_uc010tjj.1_Missense_Mutation_p.E328Q|CARKD_uc001vqz.2_RNA|CARKD_uc001vra.2_RNA|CARKD_uc010tjk.1_Missense_Mutation_p.E236Q|CARKD_uc010tjl.1_Missense_Mutation_p.E215Q|CARKD_uc001vrc.2_Nonstop_Mutation_p.*391S Q8IW45 CARKD_HUMAN RecName: Full=Carbohydrate kinase domain-containing protein; Flags: Precursor; 346 skin(1) 1 CAAGCTCTTTGAAACCTGAGC 0.617 3 32 --- --- --- --- PASS ZNF828 283489 broad.mit.edu 37 13 115091162 115091162 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr13:115091162C>A uc010ahb.2 + 3 2174 c.1845C>A c.(1843-1845)TCC>TCA p.S615S ZNF828_uc001vuv.2_Silent_p.S615S|ZNF828_uc010tko.1_Silent_p.S615S NM_001164144 NP_001157616 Q96JM3 ZN828_HUMAN zinc finger protein 828 615 Mediates localization to the chromosome and the spindle and negatively regulates chromosome alignment. attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|protein localization to kinetochore|protein localization to microtubule|sister chromatid biorientation condensed chromosome kinetochore|cytoplasm|nucleus|spindle nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_epithelial(44;0.122)|all_lung(25;0.123) BRCA - Breast invasive adenocarcinoma(86;0.104) OV - Ovarian serous cystadenocarcinoma(48;0.193)|Epithelial(10;0.197) TATTTCCTTCCTCAAAGAAGC 0.373 6 140 --- --- --- --- PASS OR4Q3 441669 broad.mit.edu 37 14 20216261 20216261 + Silent SNP C A A rs140842827 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:20216261C>A uc010tkt.1 + 1 675 c.675C>A c.(673-675)ACC>ACA p.T225T NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN olfactory receptor, family 4, subfamily Q, 225 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3) 3 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTGATCACCCTGAGAACAC 0.493 6 100 --- --- --- --- PASS METT11D1 64745 broad.mit.edu 37 14 21464794 21464794 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:21464794C>T uc001vyn.2 + 13 1386 c.1189C>T c.(1189-1191)CGC>TGC p.R397C METT11D1_uc001vym.2_Missense_Mutation_p.R397C|METT11D1_uc001vyo.2_Missense_Mutation_p.R397C|METT11D1_uc001vyp.2_Missense_Mutation_p.R239C|METT11D1_uc001vyq.2_Missense_Mutation_p.R239C|SLC39A2_uc001vyr.2_5'Flank|SLC39A2_uc001vys.2_5'Flank NM_022734 NP_073571 Q9H7H0 MET17_HUMAN methyltransferase 11 domain containing 1 isoform 397 translation mitochondrion|ribosome copper ion binding|methyltransferase activity 0 all_cancers(95;0.00267) OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08) GBM - Glioblastoma multiforme(265;0.0191) TAAACGGCCTCGCCATGTGCA 0.572 15 20 --- --- --- --- PASS LRP10 26020 broad.mit.edu 37 14 23345565 23345565 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:23345565C>G uc001whd.2 + 5 1961 c.1408C>G c.(1408-1410)CGC>GGC p.R470G LRP10_uc001whe.2_Missense_Mutation_p.R346G NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 470 Cytoplasmic (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CTATGCCATTCGCACCCAGGA 0.607 3 39 --- --- --- --- PASS JPH4 84502 broad.mit.edu 37 14 24040344 24040344 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:24040344G>T uc001wkq.2 - 6 2514 c.1596C>A c.(1594-1596)CTC>CTA p.L532L JPH4_uc010tnr.1_Silent_p.L197L|JPH4_uc001wkr.2_Silent_p.L532L NM_032452 NP_115828 Q96JJ6 JPH4_HUMAN junctophilin 4 532 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane ovary(1)|pancreas(1) 2 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) TGCAGCCTCCGAGGAGTGGGG 0.677 6 148 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33014470 33014470 + Nonsense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:33014470C>G uc001wrq.2 + 4 781 c.611C>G c.(610-612)TCA>TGA p.S204* AKAP6_uc010aml.2_Nonsense_Mutation_p.S201* NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 204 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GTGGATGACTCAGGACAATTA 0.408 6 62 --- --- --- --- PASS SYNE2 23224 broad.mit.edu 37 14 64450532 64450532 + Silent SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:64450532A>G uc001xgm.2 + 18 2309 c.2079A>G c.(2077-2079)GAA>GAG p.E693E SYNE2_uc001xgl.2_Silent_p.E693E NM_015180 NP_055995 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 693 Cytoplasmic (Potential). centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1) 14 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TATCTAAAGAAGAGAAAGCAA 0.284 7 19 --- --- --- --- PASS SIPA1L1 26037 broad.mit.edu 37 14 72138262 72138262 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:72138262C>T uc001xms.2 + 8 3030 c.2682C>T c.(2680-2682)AGC>AGT p.S894S SIPA1L1_uc001xmt.2_Silent_p.S894S|SIPA1L1_uc001xmu.2_Silent_p.S894S|SIPA1L1_uc001xmv.2_Silent_p.S894S|SIPA1L1_uc010ttm.1_Silent_p.S369S NM_015556 NP_056371 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 894 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity ovary(3)|breast(1) 4 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) AAACAAAGAGCGTGGTCTTCA 0.463 25 52 --- --- --- --- PASS DYNC1H1 1778 broad.mit.edu 37 14 102452390 102452390 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:102452390C>A uc001yks.2 + 8 1992 c.1828C>A c.(1828-1830)CAG>AAG p.Q610K NM_001376 NP_001367 Q14204 DYHC1_HUMAN cytoplasmic dynein 1 heavy chain 1 610 Interaction with DYNC1I2 (By similarity).|Stem (By similarity). cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding ovary(7)|central_nervous_system(2)|pancreas(1) 10 CCAGCTGATCCAGCGCGTGAA 0.507 4 38 --- --- --- --- PASS PPP1R13B 23368 broad.mit.edu 37 14 104251226 104251226 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:104251226C>G uc001yof.1 - 3 466 c.183G>C c.(181-183)ATG>ATC p.M61I PPP1R13B_uc001yog.1_5'UTR NM_015316 NP_056131 Q96KQ4 ASPP1_HUMAN apoptosis-stimulating protein of p53, 1 61 apoptosis|induction of apoptosis|negative regulation of cell cycle cytoplasm|nucleus|plasma membrane protein binding ovary(1) 1 all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155) GTTCGTACATCATATGATCAA 0.388 4 51 --- --- --- --- PASS OCA2 4948 broad.mit.edu 37 15 28230328 28230328 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:28230328G>C uc001zbh.3 - 13 1356 c.1246C>G c.(1246-1248)CGG>GGG p.R416G OCA2_uc010ayv.2_Missense_Mutation_p.R392G NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 416 Cytoplasmic (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGGGAGAGCCGGTATGCCTGG 0.567 Oculocutaneous_Albinism 8 16 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34042220 34042220 + Nonsense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:34042220G>A uc001zhi.2 + 56 8310 c.8240G>A c.(8239-8241)TGG>TAG p.W2747* RYR3_uc010bar.2_Nonsense_Mutation_p.W2747* NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 2747 4.|Cytoplasmic (By similarity).|4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CACAATATCTGGGCCAAGAAG 0.512 9 14 --- --- --- --- PASS SPG11 80208 broad.mit.edu 37 15 44912449 44912449 + Missense_Mutation SNP T G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:44912449T>G uc001ztx.2 - 15 2804 c.2773A>C c.(2773-2775)ATT>CTT p.I925L SPG11_uc010ueh.1_Missense_Mutation_p.I925L|SPG11_uc010uei.1_Missense_Mutation_p.I925L|SPG11_uc001ztz.1_Missense_Mutation_p.I84L NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 925 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) TTCTGGTTAATAACATCAACA 0.358 3 62 --- --- --- --- PASS SHC4 399694 broad.mit.edu 37 15 49148318 49148318 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:49148318C>A uc001zxb.1 - 8 1503 c.1074G>T c.(1072-1074)GAG>GAT p.E358D SHC4_uc010uey.1_Missense_Mutation_p.E115D|SHC4_uc010uez.1_Missense_Mutation_p.E72D NM_203349 NP_976224 Q6S5L8 SHC4_HUMAN rai-like protein 358 PID. intracellular signal transduction cell junction|postsynaptic membrane ovary(3)|pancreas(2) 5 all_lung(180;0.00466) all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07) TATGCACCTCCTCACTGTGAA 0.438 5 78 --- --- --- --- PASS MNS1 55329 broad.mit.edu 37 15 56739137 56739137 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:56739137C>G uc002adr.2 - 4 523 c.358G>C c.(358-360)GAG>CAG p.E120Q MNS1_uc010bfo.2_5'UTR NM_018365 NP_060835 Q8NEH6 MNS1_HUMAN meiosis-specific nuclear structural 1 120 Potential.|Glu-rich. meiosis ovary(1) 1 all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101) TCTCTAAGCTCAATGCTGTTT 0.254 5 18 --- --- --- --- PASS IGDCC4 57722 broad.mit.edu 37 15 65684253 65684253 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:65684253A>C uc002aou.1 - 12 2399 c.2189T>G c.(2188-2190)GTG>GGG p.V730G IGDCC4_uc002aot.1_Missense_Mutation_p.V318G NM_020962 NP_066013 Q8TDY8 IGDC4_HUMAN immunoglobulin superfamily, DCC subclass, member 730 Extracellular (Potential).|Fibronectin type-III 3. integral to membrane|plasma membrane ovary(1)|pancreas(1)|skin(1) 3 GCCCTTCCACACTGCTGCATA 0.622 43 78 --- --- --- --- PASS DIS3L 115752 broad.mit.edu 37 15 66621462 66621462 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:66621462G>A uc010ujm.1 + 13 2371 c.2356G>A c.(2356-2358)GGT>AGT p.G786S DIS3L_uc002app.2_Missense_Mutation_p.G703S|DIS3L_uc010bho.2_Missense_Mutation_p.G652S NM_001143688 NP_001137160 Q8TF46 DI3L1_HUMAN DIS3 mitotic control homolog (S. 786 rRNA catabolic process cytoplasm|exosome (RNase complex) exonuclease activity|protein binding|ribonuclease activity|RNA binding ovary(2) 2 CCATCATTACGGTGAATCATA 0.433 15 25 --- --- --- --- PASS SH2D7 646892 broad.mit.edu 37 15 78385066 78385066 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:78385066C>A uc010blb.1 + 1 140 c.140C>A c.(139-141)GCC>GAC p.A47D NM_001101404 NP_001094874 A6NKC9 SH2D7_HUMAN SH2 domain containing 7 47 0 CAGAACGGTGCCCTGCCTCCC 0.607 5 10 --- --- --- --- PASS ZNF598 90850 broad.mit.edu 37 16 2049631 2049631 + Missense_Mutation SNP G A A rs144186452 by1000genomes TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:2049631G>A uc002cof.1 - 11 1934 c.1919C>T c.(1918-1920)CCG>CTG p.P640L ZNF598_uc002coe.1_Missense_Mutation_p.P4L NM_178167 NP_835461 Q86UK7 ZN598_HUMAN zinc finger protein 598 640 Pro-rich. intracellular zinc ion binding lung(1)|breast(1) 2 AGCAGGGGCCGGGCCCTCCAT 0.711 6 8 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2812505 2812505 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:2812505G>T uc002crk.2 + 11 2525 c.1976G>T c.(1975-1977)CGC>CTC p.R659L SRRM2_uc002crj.1_Missense_Mutation_p.R563L|SRRM2_uc002crl.1_Missense_Mutation_p.R659L|SRRM2_uc010bsu.1_Missense_Mutation_p.R563L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 659 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 GGCCGCTCACGCTCCAGAACC 0.622 24 62 --- --- --- --- PASS SRRM2 23524 broad.mit.edu 37 16 2813279 2813279 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:2813279C>T uc002crk.2 + 11 3299 c.2750C>T c.(2749-2751)CCC>CTC p.P917L SRRM2_uc002crj.1_Missense_Mutation_p.P821L|SRRM2_uc002crl.1_Missense_Mutation_p.P917L|SRRM2_uc010bsu.1_Missense_Mutation_p.P821L NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN splicing coactivator subunit SRm300 917 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding ovary(1)|pancreas(1)|central_nervous_system(1)|skin(1) 4 TCTCCACAACCCAAAGTGAAG 0.512 21 44 --- --- --- --- PASS CLDN6 9074 broad.mit.edu 37 16 3066004 3066004 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:3066004G>T uc002csu.3 - 2 79 c.19C>A c.(19-21)CAG>AAG p.Q7K NM_021195 NP_067018 P56747 CLD6_HUMAN claudin 6 7 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 CCCAGGATCTGCATTCCGGCA 0.602 7 17 --- --- --- --- PASS MKL2 57496 broad.mit.edu 37 16 14340860 14340860 + Silent SNP C T T rs148779363 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:14340860C>T uc010uza.1 + 12 1898 c.1743C>T c.(1741-1743)ATC>ATT p.I581I MKL2_uc002dcg.2_Silent_p.I581I|MKL2_uc002dcj.2_5'Flank NM_014048 NP_054767 Q9ULH7 MKL2_HUMAN megakaryoblastic leukemia 2 protein 570 Required for interaction with itself and with MKL1.|Potential. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity ovary(3)|kidney(1)|pancreas(1) 5 AGAAGCAAATCGAAGAGCTGA 0.507 5 49 --- --- --- --- PASS ERN2 10595 broad.mit.edu 37 16 23712343 23712343 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:23712343G>T uc002dma.3 - 12 1609 c.1440C>A c.(1438-1440)GAC>GAA p.D480E ERN2_uc010bxp.2_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.D288E NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 432 Helical; (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CTGCCAGCAGGTCTTGGGGTC 0.572 24 37 --- --- --- --- PASS PRKCB 5579 broad.mit.edu 37 16 24196462 24196462 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:24196462G>T uc002dmd.2 + 14 1761 c.1564G>T c.(1564-1566)GTG>TTG p.V522L PRKCB_uc002dme.2_Missense_Mutation_p.V522L NM_212535 NP_997700 P05771 KPCB_HUMAN protein kinase C, beta isoform 1 522 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding ovary(3)|central_nervous_system(3)|lung(2)|large_intestine(1) 9 Vitamin E(DB00163) TGGGAAGTCCGTGGATTGGTG 0.458 28 34 --- --- --- --- PASS ABCC11 85320 broad.mit.edu 37 16 48234333 48234333 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:48234333G>A uc002eff.1 - 14 2286 c.1936C>T c.(1936-1938)CGC>TGC p.R646C ABCC11_uc002efg.1_Missense_Mutation_p.R646C|ABCC11_uc002efh.1_Missense_Mutation_p.R646C|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 646 ABC transporter 1.|Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TAGACGGCGCGGGCCAGGCTG 0.582 Cerumen_Type 20 24 --- --- --- --- PASS CES7 221223 broad.mit.edu 37 16 55883659 55883659 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:55883659C>T uc002eip.2 - 11 1449 c.1300G>A c.(1300-1302)GAG>AAG p.E434K CES7_uc002eio.2_Intron|CES7_uc002eiq.2_Missense_Mutation_p.E195K|CES7_uc002eir.2_Missense_Mutation_p.E328K NM_001143685 NP_001137157 Q6NT32 EST5A_HUMAN carboxylesterase 7 isoform 1 434 extracellular region carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity 0 all cancers(182;0.229)|Epithelial(162;0.231) TGCCGAAACTCATAGAAGTAG 0.567 6 112 --- --- --- --- PASS GAN 8139 broad.mit.edu 37 16 81397433 81397433 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:81397433G>T uc002fgo.2 + 7 1269 c.1121G>T c.(1120-1122)GGG>GTG p.G374V NM_022041 NP_071324 Q9H2C0 GAN_HUMAN gigaxonin 374 Kelch 2. cell death cytoplasm|neurofilament protein binding ovary(2) 2 Colorectal(91;0.153) GAGATAGATGGGATGCTGTAC 0.398 6 91 --- --- --- --- PASS JPH3 57338 broad.mit.edu 37 16 87678227 87678227 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:87678227G>A uc002fkd.2 + 2 1000 c.746G>A c.(745-747)GGC>GAC p.G249D JPH3_uc010vou.1_RNA NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 249 Cytoplasmic (Potential). calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) AGCGAGGCGGGCATGAGCACC 0.672 4 71 --- --- --- --- PASS SPIRE2 84501 broad.mit.edu 37 16 89936621 89936621 + Missense_Mutation SNP C T T rs144349271 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr16:89936621C>T uc002foz.1 + 15 2138 c.2086C>T c.(2086-2088)CGC>TGC p.R696C SPIRE2_uc010ciw.1_Missense_Mutation_p.R648C|SPIRE2_uc002fpa.1_Missense_Mutation_p.R648C|SPIRE2_uc010cix.1_Missense_Mutation_p.R563C NM_032451 NP_115827 Q8WWL2 SPIR2_HUMAN spire homolog 2 696 transport cytoplasm|cytoskeleton actin binding central_nervous_system(1) 1 Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0286) TACGCCACGACGCAGTCGCCA 0.607 8 2 --- --- --- --- PASS VPS53 55275 broad.mit.edu 37 17 534816 534816 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:534816C>T uc002frn.2 - 8 808 c.661G>A c.(661-663)GAA>AAA p.E221K VPS53_uc002frk.2_5'UTR|VPS53_uc010cjo.1_Missense_Mutation_p.E221K|VPS53_uc002frl.2_RNA|VPS53_uc002frm.2_Missense_Mutation_p.E192K|VPS53_uc002fro.2_Missense_Mutation_p.E23K|VPS53_uc010cjp.1_Intron NM_018289 NP_060759 Q5VIR6 VPS53_HUMAN vacuolar protein sorting 53 isoform 2 221 protein transport endosome membrane|Golgi apparatus 0 UCEC - Uterine corpus endometrioid carcinoma (25;0.0265) GGAAACGCTTCTTCAAAATCT 0.498 7 44 --- --- --- --- PASS CTNS 1497 broad.mit.edu 37 17 3563244 3563244 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:3563244G>A uc002fwb.2 + 11 1538 c.945G>A c.(943-945)CAG>CAA p.Q315Q CTNS_uc002fwa.2_Silent_p.Q315Q|CTNS_uc010ckj.2_Silent_p.Q315Q|CTNS_uc010vrv.1_Silent_p.Q168Q|CTNS_uc010vrw.1_Silent_p.Q207Q NM_004937 NP_004928 O60931 CTNS_HUMAN cystinosin isoform 2 315 Helical; (Potential).|PQ-loop 2. ATP metabolic process|brain development|cognition|glutathione metabolic process integral to membrane|late endosome|lysosomal membrane L-cystine transmembrane transporter activity 0 COAD - Colon adenocarcinoma(5;0.0829) L-Cystine(DB00138) GCCTCCTGCAGATGTTCCTCC 0.627 6 9 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C A A rs28934576 by1000genomes TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f 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 7 --- --- --- --- PASS CCL3 6348 broad.mit.edu 37 17 34416024 34416024 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:34416024A>T uc002hkv.2 - 3 375 c.273T>A c.(271-273)AGT>AGA p.S91R NM_002983 NP_002974 P10147 CCL3_HUMAN chemokine (C-C motif) ligand 3 91 cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication extracellular space|soluble fraction chemoattractant activity|chemokine activity|signal transducer activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CCCCTCAGGCACTCAGCTCCA 0.627 21 23 --- --- --- --- PASS SLC25A39 51629 broad.mit.edu 37 17 42398095 42398095 + Silent SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:42398095C>G uc002ign.2 - 9 850 c.696G>C c.(694-696)CTG>CTC p.L232L SLC25A39_uc002igm.2_Silent_p.L224L|SLC25A39_uc002igo.2_Silent_p.L224L|SLC25A39_uc010wiw.1_Silent_p.L209L|SLC25A39_uc010czu.2_Silent_p.L100L|SLC25A39_uc010wix.1_3'UTR|SLC25A39_uc010wiy.1_3'UTR NM_001143780 NP_001137252 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 isoform a 232 Helical; Name=4; (Potential).|Solcar 2. heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane upper_aerodigestive_tract(1) 1 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TGAACCAGTACAGGGCTTGGG 0.582 35 13 --- --- --- --- PASS GRN 2896 broad.mit.edu 37 17 42429158 42429158 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:42429158C>A uc002igp.1 + 10 1393 c.1174C>A c.(1174-1176)CCA>ACA p.P392T GRN_uc002igr.1_Missense_Mutation_p.P186T NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 392 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) CTGTCCAATCCCAGAGGTATA 0.582 4 22 --- --- --- --- PASS TBX21 30009 broad.mit.edu 37 17 45822322 45822322 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:45822322C>T uc002ilv.1 + 6 1409 c.1198C>T c.(1198-1200)CGA>TGA p.R400* NM_013351 NP_037483 Q9UL17 TBX21_HUMAN T-box 21 400 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 GGCTGAGTTTCGAGCAGTCAG 0.652 10 24 --- --- --- --- PASS SFRS1 6426 broad.mit.edu 37 17 56083716 56083716 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:56083716C>G uc002ivi.2 - 2 576 c.367G>C c.(367-369)GTG>CTG p.V123L SFRS1_uc002ivj.2_Missense_Mutation_p.V123L NM_006924 NP_008855 Q07955 SRSF1_HUMAN splicing factor, arginine/serine-rich 1 isoform 123 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding 0 Colorectal(1115;0.0691) LUAD - Lung adenocarcinoma(1115;0.247) GAGACAACCACTCTGTTTTCA 0.552 38 12 --- --- --- --- PASS ACOX1 51 broad.mit.edu 37 17 73945424 73945424 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:73945424C>A uc002jqf.2 - 12 1892 c.1602G>T c.(1600-1602)GTG>GTT p.V534V ACOX1_uc010wsq.1_Silent_p.V496V|ACOX1_uc002jqe.2_Silent_p.V534V|ACOX1_uc010wsr.1_Silent_p.V466V NM_007292 NP_009223 Q15067 ACOX1_HUMAN acyl-Coenzyme A oxidase 1 isoform b 534 VV -> GL (in Ref. 1; AAA19113 and 2; AAA18595). fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding ovary(1) 1 GCTTAACTACCACATAGTGGC 0.358 5 110 --- --- --- --- PASS RNF213 57674 broad.mit.edu 37 17 78319717 78319717 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:78319717C>T uc002jyh.1 + 4 2024 c.1801C>T c.(1801-1803)CGG>TGG p.R601W NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CAATCCATACCGGAAGCACTC 0.527 30 11 --- --- --- --- PASS NDUFV2 4729 broad.mit.edu 37 18 9122569 9122569 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr18:9122569C>T uc002knu.2 + 5 426 c.359C>T c.(358-360)ACA>ATA p.T120I NM_021074 NP_066552 P19404 NDUV2_HUMAN NADH dehydrogenase ubiquinone flavoprotein 2 120 cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport mitochondrial respiratory chain complex I 2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity ovary(1) 1 NADH(DB00157) ACTTTTTATACAATGTATAAT 0.363 9 63 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22805745 22805745 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr18:22805745G>T uc002kvk.2 - 4 2384 c.2137C>A c.(2137-2139)CTG>ATG p.L713M ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L713M|ZNF521_uc002kvl.2_Missense_Mutation_p.L493M NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 713 C2H2-type 16. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ATGTCCAGCAGGTGTTTCTGA 0.453 T PAX5 ALL 5 75 --- --- --- --- PASS CDH7 1005 broad.mit.edu 37 18 63477173 63477173 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr18:63477173C>A uc002ljz.2 + 3 769 c.444C>A c.(442-444)GAC>GAA p.D148E CDH7_uc002lka.2_Missense_Mutation_p.D148E|CDH7_uc002lkb.2_Missense_Mutation_p.D148E NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 148 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ATATCAACGACAATGAACCCA 0.507 4 71 --- --- --- --- PASS CTDP1 9150 broad.mit.edu 37 18 77477810 77477810 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr18:77477810G>T uc002lnh.1 + 10 2358 c.2211G>T c.(2209-2211)AGG>AGT p.R737S CTDP1_uc002lni.1_Missense_Mutation_p.R737S|CTDP1_uc010drd.1_Missense_Mutation_p.R737S NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 737 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity 0 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) CCTCCGACAGGGAGAACAGCC 0.677 19 4 --- --- --- --- PASS CCDC94 55702 broad.mit.edu 37 19 4254382 4254382 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:4254382G>C uc002lzv.3 + 4 334 c.301G>C c.(301-303)GAG>CAG p.E101Q NM_018074 NP_060544 Q9BW85 CCD94_HUMAN coiled-coil domain containing 94 101 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183) CTACACCATGGAGCATGGAGC 0.403 22 36 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5751819 5751819 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:5751819C>T uc002mda.2 + 12 1210 c.1149C>T c.(1147-1149)CAC>CAT p.H383H TMEM146_uc010duj.1_Silent_p.H41H NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 383 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 CTGAACTCCACGTTGGAAAGT 0.378 14 28 --- --- --- --- PASS PNPLA6 10908 broad.mit.edu 37 19 7625941 7625941 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:7625941G>C uc010xjq.1 + 32 4083 c.3888G>C c.(3886-3888)GAG>GAC p.E1296D PNPLA6_uc002mgq.1_Missense_Mutation_p.E1248D|PNPLA6_uc010xjp.1_Missense_Mutation_p.E1221D|PNPLA6_uc002mgr.1_Missense_Mutation_p.E1248D|PNPLA6_uc002mgs.2_Missense_Mutation_p.E1286D|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 1287 Cytoplasmic (Potential). E -> G (in Ref. 5; CAB43674). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 ACTTGGCAGAGATTGTGTCCC 0.642 4 8 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9072086 9072086 + Silent SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:9072086A>G uc002mkp.2 - 3 15564 c.15360T>C c.(15358-15360)TCT>TCC p.S5120S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5122 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CTGTGTTTATAGAAGGAAAAA 0.443 44 49 --- --- --- --- PASS ZNF440 126070 broad.mit.edu 37 19 11943153 11943153 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:11943153A>G uc002msp.1 + 4 1318 c.1162A>G c.(1162-1164)AGG>GGG p.R388G NM_152357 NP_689570 Q8IYI8 ZN440_HUMAN zinc finger protein 440 388 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 ATATCATGAAAGGACTCACAC 0.443 30 38 --- --- --- --- PASS ZNF536 9745 broad.mit.edu 37 19 30934940 30934940 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:30934940C>T uc002nsu.1 + 2 609 c.471C>T c.(469-471)CCC>CCT p.P157P ZNF536_uc010edd.1_Silent_p.P157P NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 157 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) GCGAGAAGCCCTTCAAGTGCC 0.652 16 32 --- --- --- --- PASS ZNF181 339318 broad.mit.edu 37 19 35232191 35232191 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:35232191T>C uc002nvu.3 + 4 1368 c.905T>C c.(904-906)TTT>TCT p.F302S ZNF181_uc010xsa.1_Missense_Mutation_p.F301S|ZNF181_uc010xsb.1_Missense_Mutation_p.F301S|ZNF181_uc010xsc.1_Missense_Mutation_p.F237S NM_001029997 NP_001025168 Q2M3W8 ZN181_HUMAN zinc finger protein 181 isoform 1 302 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) GGGAAGGCCTTTAGCCATGTC 0.428 7 62 --- --- --- --- PASS ZNF571 51276 broad.mit.edu 37 19 38055702 38055702 + Nonsense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:38055702G>C uc002ogt.2 - 4 1729 c.1628C>G c.(1627-1629)TCA>TGA p.S543* uc002ogm.2_Intron|uc002ogn.2_Intron|ZNF540_uc002ogo.2_Intron|ZNF540_uc002ogp.2_Intron|ZNF540_uc002ogq.2_Intron|ZNF571_uc002ogr.1_Intron|uc002ogs.1_5'Flank|ZNF571_uc010efp.2_Nonsense_Mutation_p.S543* NM_016536 NP_057620 Q7Z3V5 ZN571_HUMAN zinc finger protein 571 543 C2H2-type 15. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGTAAGGTGTGAGCCACGAAT 0.423 4 29 --- --- --- --- PASS PPP1R14A 94274 broad.mit.edu 37 19 38742961 38742961 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:38742961A>C uc002ohq.2 - 3 493 c.300T>G c.(298-300)TGT>TGG p.C100W PPP1R14A_uc010efv.2_Missense_Mutation_p.C73W NM_033256 NP_150281 Q96A00 PP14A_HUMAN protein phosphatase 1, regulatory (inhibitor) 100 Inhibitory. regulation of phosphorylation cytoplasm protein binding|protein phosphatase inhibitor activity 0 all_cancers(60;9.57e-07) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAGGTTTCCCACATGACTTCA 0.522 11 11 --- --- --- --- PASS GPR77 27202 broad.mit.edu 37 19 47844500 47844500 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:47844500G>A uc010ela.1 + 2 662 c.444G>A c.(442-444)GCG>GCA p.A148A GPR77_uc002pgk.1_Silent_p.A148A NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 148 Cytoplasmic (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) TTCAGCGGGCGTGCGGGGTGC 0.677 50 30 --- --- --- --- PASS GPR77 27202 broad.mit.edu 37 19 47844501 47844501 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:47844501T>A uc010ela.1 + 2 663 c.445T>A c.(445-447)TGC>AGC p.C149S GPR77_uc002pgk.1_Missense_Mutation_p.C149S NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 149 Cytoplasmic (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) TCAGCGGGCGTGCGGGGTGCA 0.682 48 30 --- --- --- --- PASS FPR2 2358 broad.mit.edu 37 19 52272195 52272195 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:52272195G>C uc002pxr.2 + 2 329 c.284G>C c.(283-285)TGG>TCG p.W95S FPR2_uc002pxs.3_Missense_Mutation_p.W95S|FPR2_uc010epf.2_Missense_Mutation_p.W95S NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 95 Extracellular (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 CCTTTTGGCTGGTTCCTGTGT 0.473 57 44 --- --- --- --- PASS ZNF28 7576 broad.mit.edu 37 19 53304795 53304795 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:53304795C>T uc002qad.2 - 4 423 c.303G>A c.(301-303)TGG>TGA p.W101* ZNF28_uc002qac.2_Nonsense_Mutation_p.W48*|ZNF28_uc010eqe.2_Nonsense_Mutation_p.W47* NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 101 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CATCTTCTTTCCACTGAAACT 0.428 57 132 --- --- --- --- PASS LILRB5 10990 broad.mit.edu 37 19 54758611 54758611 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:54758611C>G uc002qex.2 - 6 1353 c.1242G>C c.(1240-1242)GAG>GAC p.E414D LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.E405D|LILRB5_uc002qey.2_Missense_Mutation_p.E414D|LILRB5_uc002qez.2_Missense_Mutation_p.E314D|LILRB5_uc002qfa.1_Missense_Mutation_p.E304D|LILRB5_uc010yes.1_RNA NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 414 Ig-like C2-type 4.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) AGACCACGAGCTCCTGGGGGT 0.632 32 22 --- --- --- --- PASS LILRB2 10288 broad.mit.edu 37 19 54782923 54782923 + Silent SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:54782923A>G uc002qfb.2 - 6 965 c.699T>C c.(697-699)CCT>CCC p.P233P LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Silent_p.P233P|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Silent_p.P233P|LILRB2_uc010yet.1_Silent_p.P117P|LILRB2_uc010yeu.1_Intron NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 233 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGGCCACGACAGGACCCGGCT 0.577 36 47 --- --- --- --- PASS LILRA1 11024 broad.mit.edu 37 19 55106308 55106308 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:55106308C>T uc002qgh.1 + 4 431 c.249C>T c.(247-249)TTC>TTT p.F83F LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Silent_p.F83F NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 83 Ig-like C2-type 1.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) AGGGCCAGTTCCCCATCCCAT 0.567 7 129 --- --- --- --- PASS LILRB1 10859 broad.mit.edu 37 19 55143129 55143129 + Silent SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:55143129C>T uc002qgj.2 + 5 589 c.249C>T c.(247-249)TTC>TTT p.F83F LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Silent_p.F83F|LILRB1_uc002qgk.2_Silent_p.F83F|LILRB1_uc002qgm.2_Silent_p.F83F|LILRB1_uc010erq.2_Silent_p.F83F|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 83 Ig-like C2-type 1.|Extracellular (Potential). regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) AGGGCCAGTTCCCCATCCCAT 0.567 HNSCC(37;0.09) 59 70 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55351040 55351040 + Missense_Mutation SNP G A A rs3189418 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:55351040G>A uc002qhm.1 + 5 596 c.550G>A c.(550-552)GAC>AAC p.D184N KIR2DS4_uc010yfj.1_Silent_p.P169P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P176P|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 184 Extracellular (Potential).|Ig-like C2-type 2. integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ATTCCAGGCCGACTTTCCTCT 0.587 53 46 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55451776 55451776 + Silent SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:55451776G>T uc002qih.3 - 4 487 c.411C>A c.(409-411)ACC>ACA p.T137T NLRP7_uc002qig.3_Silent_p.T137T|NLRP7_uc002qii.3_Silent_p.T137T|NLRP7_uc010esk.2_Silent_p.T137T|NLRP7_uc010esl.2_Silent_p.T165T NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 137 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CTTGCCAAAAGGTGTTCTTCC 0.453 218 208 --- --- --- --- PASS TNNT1 7138 broad.mit.edu 37 19 55652325 55652325 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:55652325G>A uc002qjb.3 - 9 402 c.313C>T c.(313-315)CGG>TGG p.R105W TNNT1_uc002qiz.3_Missense_Mutation_p.R35W|TNNT1_uc002qja.3_Missense_Mutation_p.R35W|TNNT1_uc002qjc.3_Missense_Mutation_p.R105W|TNNT1_uc002qje.3_Missense_Mutation_p.R94W|TNNT1_uc002qjd.3_Missense_Mutation_p.R94W|TNNT1_uc002qjf.2_Missense_Mutation_p.R101W NM_003283 NP_003274 P13805 TNNT1_HUMAN troponin T1, skeletal, slow isoform a 105 muscle filament sliding|negative regulation of muscle contraction cytosol|troponin complex tropomyosin binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.047) GACCGGCGCCGCTCCTGGGAA 0.607 OREG0025677 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 20 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56515098 56515098 + Missense_Mutation SNP A T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:56515098A>T uc002qmj.2 + 2 79 c.79A>T c.(79-81)ACA>TCA p.T27S NLRP5_uc002qmi.2_Missense_Mutation_p.T27S NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 27 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CACTCTTTCCACAGGTCCTAC 0.418 48 34 --- --- --- --- PASS SIRPG 55423 broad.mit.edu 37 20 1616857 1616857 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:1616857G>C uc002wfm.1 - 3 790 c.725C>G c.(724-726)GCC>GGC p.A242G SIRPG_uc002wfn.1_Missense_Mutation_p.A242G|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron NM_018556 NP_061026 Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma isoform 1 242 Extracellular (Potential).|Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding ovary(1) 1 AGACAAGTTGGCAGTCCCACG 0.637 20 32 --- --- --- --- PASS SIRPA 140885 broad.mit.edu 37 20 1915374 1915374 + Nonsense_Mutation SNP G T T rs141454528 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:1915374G>T uc002wfq.2 + 8 1600 c.1240G>T c.(1240-1242)GAG>TAG p.E414* SIRPA_uc010zps.1_Nonsense_Mutation_p.E394*|SIRPA_uc002wfr.2_Nonsense_Mutation_p.E414*|SIRPA_uc002wfs.2_Nonsense_Mutation_p.E414*|SIRPA_uc002wft.2_Nonsense_Mutation_p.E414* NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 414 Cytoplasmic (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GCATGAGCCCGAGAAGAATGC 0.338 51 59 --- --- --- --- PASS SLC4A11 83959 broad.mit.edu 37 20 3218266 3218266 + Silent SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:3218266A>G uc002wig.2 - 1 108 c.60T>C c.(58-60)CAT>CAC p.H20H SLC4A11_uc010zqe.1_Intron|SLC4A11_uc002wih.2_Intron|SLC4A11_uc010zqf.1_Intron NM_032034 NP_114423 Q8NBS3 S4A11_HUMAN solute carrier family 4 member 11 20 Cytoplasmic (Potential). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity ovary(1) 1 CACCAGCCCCATGGACCAAGC 0.592 8 87 --- --- --- --- PASS HSPA12B 116835 broad.mit.edu 37 20 3725561 3725561 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:3725561C>A uc002wjd.2 + 5 382 c.279C>A c.(277-279)GGC>GGA p.G93G HSPA12B_uc010zqi.1_Silent_p.G93G|HSPA12B_uc002wje.2_Silent_p.G6G|HSPA12B_uc010zqj.1_5'UTR NM_052970 NP_443202 Q96MM6 HS12B_HUMAN heat shock 70kD protein 12B 93 ATP binding 0 AATGGGAGGGCGGAGACCCGG 0.532 25 37 --- --- --- --- PASS PRNP 5621 broad.mit.edu 37 20 4680514 4680514 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:4680514C>A uc002wku.2 + 2 1011 c.648C>A c.(646-648)ACC>ACA p.T216T PRNP_uc002wkv.2_Silent_p.T216T|PRNP_uc002wkw.2_Silent_p.T216T|PRNP_uc002wkx.2_Silent_p.T216T|PRNP_uc002wkt.1_Silent_p.T186T|PRNP_uc002wky.2_Silent_p.T216T|PRNP_uc010gbe.1_Silent_p.T216T NM_001080122 NP_001073591 P04156 PRIO_HUMAN prion protein preproprotein 216 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(1) 1 Tetracycline(DB00759) TGTGTATCACCCAGTACGAGA 0.532 5 66 --- --- --- --- PASS RALGAPA2 57186 broad.mit.edu 37 20 20493389 20493389 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:20493389G>C uc002wrz.2 - 32 4767 c.4624C>G c.(4624-4626)CTA>GTA p.L1542V RALGAPA2_uc010gcx.2_Missense_Mutation_p.L1246V|RALGAPA2_uc010zsg.1_Missense_Mutation_p.L990V|RALGAPA2_uc002wsa.1_Missense_Mutation_p.L314V NM_020343 NP_065076 Q2PPJ7 RGPA2_HUMAN akt substrate AS250 1542 activation of Ral GTPase activity cytosol|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(1) 1 GGTTCATTTAGATTTAGCTGT 0.413 32 120 --- --- --- --- PASS TMEM90B 79953 broad.mit.edu 37 20 24523840 24523840 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:24523840G>C uc002wtw.1 + 2 740 c.107G>C c.(106-108)AGA>ACA p.R36T NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 36 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 GCCGAGAGCAGAGATGGTCTG 0.562 5 90 --- --- --- --- PASS ZNF337 26152 broad.mit.edu 37 20 25656728 25656728 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:25656728G>A uc002wva.2 - 4 1718 c.1196C>T c.(1195-1197)TCA>TTA p.S399L uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.S367L|ZNF337_uc002wvb.2_Missense_Mutation_p.S399L|ZNF337_uc002wvc.2_Missense_Mutation_p.S399L NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTCTCCCCTGAGTGTGTTCT 0.498 24 75 --- --- --- --- PASS PLUNC 51297 broad.mit.edu 37 20 31825574 31825574 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:31825574C>A uc002wyv.2 + 2 127 c.57C>A c.(55-57)GCC>GCA p.A19A PLUNC_uc002wyt.3_Silent_p.A19A|PLUNC_uc002wyu.3_Silent_p.A19A NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 19 innate immune response extracellular region lipid binding 0 AGACCATGGCCCAGTTTGGAG 0.552 15 32 --- --- --- --- PASS PLUNC 51297 broad.mit.edu 37 20 31825575 31825575 + Nonsense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:31825575C>T uc002wyv.2 + 2 128 c.58C>T c.(58-60)CAG>TAG p.Q20* PLUNC_uc002wyt.3_Nonsense_Mutation_p.Q20*|PLUNC_uc002wyu.3_Nonsense_Mutation_p.Q20* NM_130852 NP_570913 Q9NP55 PLUNC_HUMAN palate, lung and nasal epithelium associated 20 innate immune response extracellular region lipid binding 0 GACCATGGCCCAGTTTGGAGG 0.547 17 32 --- --- --- --- PASS CHMP4B 128866 broad.mit.edu 37 20 32439921 32439921 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:32439921G>T uc002xaa.2 + 4 678 c.522G>T c.(520-522)GAG>GAT p.E174D NM_176812 NP_789782 Q9H444 CHM4B_HUMAN chromatin modifying protein 4B 174 Potential. cellular membrane organization|endosome transport|protein transport cytosol|late endosome membrane protein binding ovary(1)|central_nervous_system(1) 2 TAGAACAGGAGGAACTAGACA 0.507 6 121 --- --- --- --- PASS MYH7B 57644 broad.mit.edu 37 20 33575001 33575001 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:33575001A>G uc002xbi.1 + 14 1276 c.1184A>G c.(1183-1185)TAT>TGT p.Y395C NM_020884 NP_065935 A7E2Y1 MYH7B_HUMAN myosin, heavy polypeptide 7B, cardiac muscle, 353 Myosin head-like. membrane|myosin filament actin binding|ATP binding|motor activity ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00691) TGTGCCTGCTATAAGATCGTG 0.607 36 68 --- --- --- --- PASS FAM83D 81610 broad.mit.edu 37 20 37580566 37580566 + Silent SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:37580566T>C uc002xjg.2 + 4 1292 c.1251T>C c.(1249-1251)ATT>ATC p.I417I NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 387 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) GAAAGGCCATTGACGCTGCCA 0.567 15 22 --- --- --- --- PASS MATN4 8785 broad.mit.edu 37 20 43932922 43932922 + Nonsense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:43932922C>A uc002xnn.2 - 3 776 c.589G>T c.(589-591)GAG>TAG p.E197* MATN4_uc002xno.2_Nonsense_Mutation_p.E197*|MATN4_uc002xnp.2_Nonsense_Mutation_p.E197*|MATN4_uc010zwr.1_Nonsense_Mutation_p.E145*|MATN4_uc002xnr.1_Nonsense_Mutation_p.E197*|RBPJL_uc002xns.2_5'Flank|RBPJL_uc002xnt.2_5'Flank NM_003833 NP_003824 O95460 MATN4_HUMAN matrilin 4 isoform 1 precursor 197 VWFA 1. extracellular region protein binding 0 Myeloproliferative disorder(115;0.0122) TCGAAGGACTCTACGAGGAAG 0.627 5 80 --- --- --- --- PASS SLC35C2 51006 broad.mit.edu 37 20 44986276 44986276 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:44986276C>A uc002xro.2 - 3 798 c.257G>T c.(256-258)AGA>ATA p.R86I SLC35C2_uc002xrp.2_Missense_Mutation_p.R86I|SLC35C2_uc002xrq.2_Missense_Mutation_p.R86I|SLC35C2_uc002xrr.2_Missense_Mutation_p.R86I|SLC35C2_uc010zxn.1_5'UTR|SLC35C2_uc010zxo.1_5'UTR|SLC35C2_uc010zxp.1_Missense_Mutation_p.R115I NM_173179 NP_775271 Q9NQQ7 S35C2_HUMAN solute carrier family 35, member C2 isoform a 86 transport integral to membrane ovary(1) 1 Myeloproliferative disorder(115;0.0122) GGGAGCCACTCTTCTGAGGTA 0.627 27 57 --- --- --- --- PASS NCOA3 8202 broad.mit.edu 37 20 46254215 46254215 + Missense_Mutation SNP T G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:46254215T>G uc002xtk.2 + 5 552 c.347T>G c.(346-348)CTT>CGT p.L116R NCOA3_uc010ght.1_Missense_Mutation_p.L116R|NCOA3_uc002xtl.2_Missense_Mutation_p.L116R|NCOA3_uc002xtm.2_Missense_Mutation_p.L116R|NCOA3_uc002xtn.2_Missense_Mutation_p.L116R|NCOA3_uc010zyc.1_5'Flank NM_181659 NP_858045 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 isoform a 116 PAS. androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding ovary(3)|lung(1)|skin(1) 5 TTAGGACCGCTTTTACTTCAG 0.348 5 52 --- --- --- --- PASS TSHZ2 128553 broad.mit.edu 37 20 51872343 51872343 + Silent SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:51872343T>C uc002xwo.2 + 2 3302 c.2346T>C c.(2344-2346)TCT>TCC p.S782S NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 782 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) AAGCACAATCTTGTATGTCCC 0.572 42 88 --- --- --- --- PASS SPO11 23626 broad.mit.edu 37 20 55906898 55906898 + Silent SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:55906898T>C uc002xye.2 + 2 234 c.141T>C c.(139-141)GTT>GTC p.V47V SPO11_uc002xyf.2_Intron NM_012444 NP_036576 Q9Y5K1 SPO11_HUMAN meiotic recombination protein SPO11 isoform a 47 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity breast(2)|skin(1) 3 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GTTCTGAGGTTCTTGCATCTA 0.328 Editing_and_processing_nucleases 7 152 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57768671 57768671 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:57768671C>T uc002yan.2 + 1 2597 c.2597C>T c.(2596-2598)CCA>CTA p.P866L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 866 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGGGAGGTGCCAGGGGGCTCA 0.652 20 22 --- --- --- --- PASS CDH26 60437 broad.mit.edu 37 20 58581786 58581786 + Missense_Mutation SNP A G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:58581786A>G uc002ybe.2 + 17 2539 c.2239A>G c.(2239-2241)ATG>GTG p.M747V CDH26_uc002ybf.1_Missense_Mutation_p.M286V|CDH26_uc010zzy.1_RNA|CDH26_uc002ybg.2_Missense_Mutation_p.M238V|CDH26_uc002ybh.2_Missense_Mutation_p.M80V|CDH26_uc002ybi.2_Missense_Mutation_p.M39V NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN cadherin-like 26 isoform a 706 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|central_nervous_system(1) 4 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) AGATGCCACAATGCACAGACA 0.557 22 60 --- --- --- --- PASS CDH4 1002 broad.mit.edu 37 20 60504842 60504842 + Silent SNP G A A rs151300553 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:60504842G>A uc002ybn.1 + 13 2195 c.2181G>A c.(2179-2181)GCG>GCA p.A727A CDH4_uc002ybp.1_Silent_p.A653A NM_001794 NP_001785 P55283 CADH4_HUMAN cadherin 4, type 1 preproprotein 727 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) CAGTGGCAGCGGCTGGTCTGG 0.607 12 34 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60885614 60885614 + Silent SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:60885614G>A uc002ycq.2 - 76 10528 c.10461C>T c.(10459-10461)TTC>TTT p.F3487F NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3487 Laminin G-like 4. angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex integrin binding ovary(1)|pancreas(1)|skin(1) 3 Breast(26;1.57e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CACAGCCGCTGAACCCGACGG 0.682 25 23 --- --- --- --- PASS SLCO4A1 28231 broad.mit.edu 37 20 61288084 61288084 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:61288084C>T uc002ydb.1 + 2 483 c.278C>T c.(277-279)CCG>CTG p.P93L SLCO4A1_uc002ydc.1_RNA NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 93 Cytoplasmic (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) GCCTTCGCACCGCCGTGCCTG 0.662 15 8 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61525406 61525406 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr20:61525406C>T uc002ydr.1 - 12 2977 c.2713G>A c.(2713-2715)GAG>AAG p.E905K DIDO1_uc002yds.1_Missense_Mutation_p.E905K|DIDO1_uc002ydt.1_Missense_Mutation_p.E905K|DIDO1_uc002ydu.1_Missense_Mutation_p.E905K NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 905 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) GGCACAGCCTCCGGCATCACC 0.502 36 116 --- --- --- --- PASS RCAN1 1827 broad.mit.edu 37 21 35893803 35893803 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr21:35893803C>A uc002yue.2 - 3 652 c.580G>T c.(580-582)GGG>TGG p.G194W RCAN1_uc002yuc.2_Missense_Mutation_p.G113W|RCAN1_uc002yud.2_Missense_Mutation_p.G59W|RCAN1_uc002yub.2_Missense_Mutation_p.G139W|RCAN1_uc011adx.1_Missense_Mutation_p.G139W NM_004414 NP_004405 P53805 RCAN1_HUMAN calcipressin 1 isoform a 194 blood circulation|calcium-mediated signaling|central nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 TCACCTGGCCCCAGCTTGGAG 0.612 10 22 --- --- --- --- PASS DGCR2 9993 broad.mit.edu 37 22 19055686 19055686 + Silent SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:19055686C>A uc002zoq.1 - 3 503 c.255G>T c.(253-255)CGG>CGT p.R85R DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Silent_p.R44R NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 85 Extracellular (Potential). cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) CCCGCCCCTGCCGCGGATCCA 0.632 5 14 --- --- --- --- PASS DGCR2 9993 broad.mit.edu 37 22 19055687 19055687 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:19055687C>A uc002zoq.1 - 3 502 c.254G>T c.(253-255)CGG>CTG p.R85L DGCR2_uc002zor.1_5'UTR|DGCR2_uc011agr.1_Missense_Mutation_p.R44L NM_005137 NP_005128 P98153 IDD_HUMAN integral membrane protein DGCR2 precursor 85 Extracellular (Potential). cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding large_intestine(1) 1 Colorectal(54;0.0993) CCGCCCCTGCCGCGGATCCAC 0.627 6 12 --- --- --- --- PASS KLHL22 84861 broad.mit.edu 37 22 20812204 20812204 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:20812204C>A uc002zsl.1 - 5 1305 c.1196G>T c.(1195-1197)AGG>ATG p.R399M KLHL22_uc011ahr.1_Missense_Mutation_p.R256M|KLHL22_uc002zsm.1_Missense_Mutation_p.R399M NM_032775 NP_116164 Q53GT1 KLH22_HUMAN kelch-like 399 Kelch 2. cell division Cul3-RING ubiquitin ligase complex lung(1) 1 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) GTAGATGTACCTGCCTACAAC 0.612 4 21 --- --- --- --- PASS LOC96610 96610 broad.mit.edu 37 22 23135349 23135349 + RNA SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:23135349G>T uc011aim.1 + 251 c.11991G>T Parts of antibodies, mostly variable regions. 0 CATGATTTATGATGTCAGTAA 0.552 29 427 --- --- --- --- PASS SLC2A11 66035 broad.mit.edu 37 22 24225966 24225966 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:24225966T>C uc002zyn.3 + 9 1091 c.992T>C c.(991-993)GTA>GCA p.V331A SLC2A11_uc002zyl.1_3'UTR|SLC2A11_uc002zym.3_Missense_Mutation_p.V338A|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Intron|SLC2A11_uc002zyp.3_Missense_Mutation_p.V334A NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 331 Helical; Name=8; (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 CAGTGTGTGGTAATCGAGAGG 0.612 6 72 --- --- --- --- PASS RFPL2 10739 broad.mit.edu 37 22 32588926 32588926 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:32588926C>A uc003amg.3 - 4 1455 c.519G>T c.(517-519)AAG>AAT p.K173N RFPL2_uc003ame.3_Missense_Mutation_p.K112N|RFPL2_uc003amf.3_Missense_Mutation_p.K83N|RFPL2_uc003amh.3_Missense_Mutation_p.K83N NM_001098527 NP_001091997 O75678 RFPL2_HUMAN ret finger protein-like 2 isoform 2 173 B30.2/SPRY. zinc ion binding skin(1) 1 TCTGCAGAATCTTCTTCAGCT 0.512 50 135 --- --- --- --- PASS MCM5 4174 broad.mit.edu 37 22 35796559 35796559 + Missense_Mutation SNP G T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:35796559G>T uc003anu.3 + 2 222 c.128G>T c.(127-129)CGA>CTA p.R43L MCM5_uc010gwr.2_5'UTR|MCM5_uc003anv.3_Missense_Mutation_p.R43L NM_006739 NP_006730 P33992 MCM5_HUMAN minichromosome maintenance complex component 5 43 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(1) 1 CGGCAGTACCGAGTGGGCACC 0.672 10 20 --- --- --- --- PASS RASD2 23551 broad.mit.edu 37 22 35943063 35943063 + Silent SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:35943063C>G uc003anx.2 + 2 412 c.207C>G c.(205-207)CTC>CTG p.L69L RASD2_uc003any.2_Silent_p.L69L NM_014310 NP_055125 Q96D21 RHES_HUMAN RASD family, member 2 precursor 69 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity lung(2)|skin(1) 3 TGTACCAGCTCGACATCCTGG 0.617 31 32 --- --- --- --- PASS APOL5 80831 broad.mit.edu 37 22 36122449 36122449 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:36122449G>C uc003aof.2 + 3 334 c.334G>C c.(334-336)GAG>CAG p.E112Q NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN apolipoprotein L5 112 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding 0 GCACAAGTTTGAGCTAGAACA 0.458 6 66 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46835291 46835291 + Missense_Mutation SNP C G G TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:46835291C>G uc003bhw.1 - 3 4201 c.4201G>C c.(4201-4203)GAT>CAT p.D1401H NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1401 Extracellular (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GAGCGGGCATCCACCTCACAG 0.647 6 16 --- --- --- --- PASS PLXNB2 23654 broad.mit.edu 37 22 50728775 50728775 + Missense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:50728775G>A uc003bkv.3 - 3 345 c.239C>T c.(238-240)CCG>CTG p.P80L NM_012401 NP_036533 O15031 PLXB2_HUMAN plexin B2 precursor 80 Extracellular (Potential).|Sema. regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity ovary(4)|central_nervous_system(1)|skin(1) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CTCGATGGGCGGCGTGCACTT 0.652 9 15 --- --- --- --- PASS SHOX 6473 broad.mit.edu 37 X 601814 601814 + Missense_Mutation SNP T C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:601814T>C uc004cph.1 + 5 1316 c.625T>C c.(625-627)TTC>CTC p.F209L SHOX_uc004cpi.2_Missense_Mutation_p.F209L NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 209 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACGGATGCCTTTCCAACAGGT 0.567 24 18 --- --- --- --- PASS CSF2RA 1438 broad.mit.edu 37 X 1428351 1428351 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:1428351G>C uc010nct.2 + 14 1504 c.1182G>C c.(1180-1182)TTG>TTC p.L394F CSF2RA_uc004cpq.2_3'UTR|CSF2RA_uc004cpn.2_Missense_Mutation_p.L394F|CSF2RA_uc004cpo.2_Missense_Mutation_p.L394F|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Missense_Mutation_p.L261F|CSF2RA_uc004cpp.2_Missense_Mutation_p.D335H|CSF2RA_uc010ncv.2_Missense_Mutation_p.L428F|CSF2RA_uc004cpr.2_3'UTR NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 394 Cytoplasmic (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) AAGAGGTCTTGACCGTGAAGG 0.527 6 133 --- --- --- --- PASS ASMT 438 broad.mit.edu 37 X 1743268 1743268 + Nonsense_Mutation SNP G A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:1743268G>A uc004cqd.2 + 4 496 c.351G>A c.(349-351)TGG>TGA p.W117* ASMT_uc010ncy.2_Nonsense_Mutation_p.W117*|ASMT_uc004cqe.2_Nonsense_Mutation_p.W117* NM_004043 NP_004034 P46597 HIOM_HUMAN acetylserotonin O-methyltransferase 117 melatonin biosynthetic process|translation cytosol acetylserotonin O-methyltransferase activity|S-methyltransferase activity skin(1) 1 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) ACCGGTGCTGGGGCCACCTGG 0.662 9 80 --- --- --- --- PASS MAGEB1 4112 broad.mit.edu 37 X 30269565 30269565 + Missense_Mutation SNP T A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:30269565T>A uc004dcc.2 + 4 1275 c.955T>A c.(955-957)TCC>ACC p.S319T MAGEB1_uc004dcd.2_Missense_Mutation_p.S319T|MAGEB1_uc004dce.2_Missense_Mutation_p.S319T NM_002363 NP_002354 P43366 MAGB1_HUMAN melanoma antigen family B, 1 319 0 CCAAGTCCGATCCAGTGTTAG 0.547 34 13 --- --- --- --- PASS CXorf22 170063 broad.mit.edu 37 X 35969926 35969926 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:35969926G>C uc004ddj.2 + 6 951 c.892G>C c.(892-894)GAT>CAT p.D298H CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 298 large_intestine(1)|lung(1)|ovary(1) 3 ACAGGGTACAGATATTCAACA 0.269 9 5 --- --- --- --- PASS SUV39H1 6839 broad.mit.edu 37 X 48564683 48564683 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:48564683C>T uc004dkn.2 + 4 901 c.856C>T c.(856-858)CGG>TGG p.R286W SUV39H1_uc011mmf.1_Missense_Mutation_p.R297W|SUV39H1_uc011mmg.1_RNA NM_003173 NP_003164 O43463 SUV91_HUMAN suppressor of variegation 3-9 homolog 1 286 Mediates interaction with MECOM (By similarity).|SET. cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding 0 GGCAGAGCGGCGGGGCCAGAT 0.592 5 21 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73963358 73963358 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:73963358C>A uc004eby.2 - 3 1651 c.1034G>T c.(1033-1035)TGC>TTC p.C345F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 345 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TCGCTTGGGGCAGGTAGTAAA 0.463 27 7 --- --- --- --- PASS CXorf26 51260 broad.mit.edu 37 X 75397617 75397617 + Missense_Mutation SNP G C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:75397617G>C uc004ecl.1 + 6 779 c.576G>C c.(574-576)GAG>GAC p.E192D NM_016500 NP_057584 Q9BVG4 CX026_HUMAN hypothetical protein LOC51260 192 0 atggaggagagaaaggagctg 0.040 14 5 --- --- --- --- PASS DCX 1641 broad.mit.edu 37 X 110574147 110574147 + Missense_Mutation SNP C T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:110574147C>T uc004epd.2 - 5 1346 c.1174G>A c.(1174-1176)GCA>ACA p.A392T DCX_uc011msv.1_Missense_Mutation_p.G392S|DCX_uc004epe.2_Missense_Mutation_p.A311T|DCX_uc004epf.2_Missense_Mutation_p.G311S|DCX_uc004epg.2_Missense_Mutation_p.A311T NM_000555 NP_000546 O43602 DCX_HUMAN doublecortin isoform a 392 Pro/Ser-rich. axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding central_nervous_system(2)|lung(1)|skin(1) 4 TGGTCGTTACCTGAGTCAGCT 0.527 75 30 --- --- --- --- PASS CXorf61 203413 broad.mit.edu 37 X 115593069 115593069 + Missense_Mutation SNP C A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:115593069C>A uc004eqj.1 - 2 301 c.181G>T c.(181-183)GAC>TAC p.D61Y NM_001017978 NP_001017978 Q5H943 KKLC1_HUMAN chromosome X open reading frame 61 61 Extracellular (Potential). integral to membrane|plasma membrane 0 CGAGAGAGGTCGTAGACTGCA 0.418 26 8 --- --- --- --- PASS NKAP 79576 broad.mit.edu 37 X 119064021 119064021 + Missense_Mutation SNP A C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chrX:119064021A>C uc004esh.2 - 8 1198 c.1031T>G c.(1030-1032)ATT>AGT p.I344S NKAP_uc004esg.2_Missense_Mutation_p.I231S NM_024528 NP_078804 Q8N5F7 NKAP_HUMAN NFKB activating protein 344 Necessary for interaction with HDAC3 and transcriptional repression. negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent cytoplasm|nucleus chromatin binding|protein binding ovary(2) 2 AAATGATGCAATTTCTTCACT 0.393 13 42 --- --- --- --- PASS LOC388692 388692 broad.mit.edu 37 1 149285546 149285547 + RNA INS - A A rs144216017 by1000genomes TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:149285546_149285547insA uc010pbf.1 + 1 c.6071_6072insA LOC388692_uc001esg.3_5'Flank NR_027002 Homo sapiens cDNA FLJ13580 fis, clone PLACE1008851. 0 ttctgtctctcaaaaaaaaTGC 0.163 8 4 --- --- --- --- LOC388692 388692 broad.mit.edu 37 1 149287128 149287129 + RNA DEL CT - - rs140343451 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:149287128_149287129delCT uc010pbf.1 + 1 c.7653_7654delCT LOC388692_uc001esg.3_5'Flank NR_027002 Homo sapiens cDNA FLJ13580 fis, clone PLACE1008851. 0 GGGGACTGGCCTCTCTGCACGG 0.594 4 4 --- --- --- --- SPTA1 6708 broad.mit.edu 37 1 158619725 158619725 + Frame_Shift_Del DEL G - - TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr1:158619725delG uc001fst.1 - 25 3689 c.3490delC c.(3490-3492)CGCfs p.R1164fs NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1164 Spectrin 11. 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) GAACCCCAGCGGGAATTCAAT 0.443 23 10 --- --- --- --- Unknown 0 broad.mit.edu 37 3 184900714 184900714 + RNA DEL A - - TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr3:184900714delA uc003fpe.2 + 6 c.1133delA Homo sapiens hypothetical LOC339926, mRNA (cDNA clone IMAGE:4838153). actttggaacaaaaggacaaa 0.000 4 2 --- --- --- --- ABCB5 340273 broad.mit.edu 37 7 20795082 20795082 + Frame_Shift_Del DEL G - - rs61999295 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr7:20795082delG uc003suw.3 + 19 2820 c.2274delG c.(2272-2274)ACGfs p.T758fs ABCB5_uc010kuh.2_Frame_Shift_Del_p.T1203fs NM_178559 NP_848654 Q2M3G0 ABCB5_HUMAN ATP-binding cassette, sub-family B, member 5 758 Cytoplasmic (Potential).|ABC transporter 2. regulation of membrane potential apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1) 6 AAGCCAGGACGGGAAGGACAT 0.448 25 13 --- --- --- --- AQP7P1 375719 broad.mit.edu 37 9 67289313 67289314 + RNA INS - T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr9:67289313_67289314insT uc004aen.1 - 1 c.179_180insA AQP7P1_uc004aeo.1_RNA|AQP7P1_uc004aep.1_RNA Homo sapiens cDNA FLJ46364 fis, clone TESTI4051015. 0 AGCTATCCCTGTGTCCCCAGTC 0.614 5 3 --- --- --- --- NID2 22795 broad.mit.edu 37 14 52520416 52520416 + Frame_Shift_Del DEL G - - TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:52520416delG uc001wzo.2 - 5 1544 c.1310delC c.(1309-1311)CCAfs p.P437fs NID2_uc010tqs.1_Frame_Shift_Del_p.P437fs|NID2_uc010tqt.1_Frame_Shift_Del_p.P437fs|NID2_uc001wzp.2_Frame_Shift_Del_p.P437fs NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 437 basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) AGGATGAGCTGGGGGAACATC 0.547 46 26 --- --- --- --- SPATA7 55812 broad.mit.edu 37 14 88892994 88892995 + Frame_Shift_Ins INS - A A TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr14:88892994_88892995insA uc001xwq.2 + 6 942_943 c.791_792insA c.(790-792)AGAfs p.R264fs SPATA7_uc001xwr.2_Frame_Shift_Ins_p.R232fs|SPATA7_uc001xws.2_Frame_Shift_Ins_p.R200fs|SPATA7_uc001xwt.2_Frame_Shift_Ins_p.R158fs|SPATA7_uc001xwu.2_5'Flank NM_018418 NP_060888 Q9P0W8 SPAT7_HUMAN spermatogenesis-associated protein 7 isoform a 264 response to stimulus|visual perception ovary(1) 1 CCTGCCAAAAGAAAAAAGGATT 0.366 34 19 --- --- --- --- Unknown 0 broad.mit.edu 37 15 40617717 40617717 + RNA DEL T - - rs3214686 TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:40617717delT uc001zlf.1 + 1 c.1037delT Homo sapiens cDNA FLJ41776 fis, clone IMR322013053. TGTTTTTATCTTTTTTTTTTT 0.448 5 4 --- --- --- --- IQGAP1 8826 broad.mit.edu 37 15 91010776 91010776 + Frame_Shift_Del DEL T - - rs1505936 byFrequency TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr15:91010776delT uc002bpl.1 + 18 2231 c.2130delT c.(2128-2130)CCTfs p.P710fs NM_003870 NP_003861 P46940 IQGA1_HUMAN IQ motif containing GTPase activating protein 1 710 WW. energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction actin filament|cytoplasm|midbody|nucleus|plasma membrane calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1) 8 Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488) BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194) GGGatgaacctccaaattttg 0.323 49 52 --- --- --- --- PRKCA 5578 broad.mit.edu 37 17 64738846 64738847 + Frame_Shift_Ins INS - C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr17:64738846_64738847insC uc002jfp.1 + 13 1536_1537 c.1492_1493insC c.(1492-1494)TTCfs p.F498fs PRKCA_uc002jfo.1_Frame_Shift_Ins_p.F369fs NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 498 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GACCAGGACCTTCTGTGGGACT 0.475 22 39 --- --- --- --- DPP9 91039 broad.mit.edu 37 19 4704256 4704257 + Frame_Shift_Ins INS - C C TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr19:4704256_4704257insC uc002mba.2 - 6 744_745 c.486_487insG c.(484-489)CGCCTGfs p.R162fs DPP9_uc002mbb.2_Frame_Shift_Ins_p.R162fs|DPP9_uc002mbc.2_Frame_Shift_Ins_p.R162fs NM_139159 NP_631898 Q86TI2 DPP9_HUMAN dipeptidylpeptidase 9 133_134 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) AAGACCCCCAGGCGTTTCCGCT 0.644 37 22 --- --- --- --- Unknown 0 broad.mit.edu 37 22 20292917 20292918 + RNA INS - T T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 Somatic Phase_I Capture Illumina GAIIx 239deee9-2791-4163-b777-fdf8c49c9e33 dc33f835-cd00-493e-98a9-48aa6b4ef73f g.chr22:20292917_20292918insT uc002zrw.1 + 1 c.1357_1358insT Homo sapiens mRNA for KIAA1653 protein, partial cds. ctggctgtggcttgggcttttt 0.000 5 3 --- --- --- ---