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 Unknown 0 broad.mit.edu 37 1 1853772 1853772 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:1853772T>C uc001aik.2 - 11 1722 c.872A>G c.(871-873)GAG>GGG p.E291G uc001ail.2_Missense_Mutation_p.E291G RecName: Full=Uncharacterized protein C1orf222; CTTGTAGGTCTCCTTCACATC 0.617 13 64 --- --- --- --- PASS C1orf93 127281 broad.mit.edu 37 1 2520063 2520063 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:2520063A>C uc001aju.1 + 5 535 c.459A>C c.(457-459)AAA>AAC p.K153N C1orf93_uc001ajw.1_Missense_Mutation_p.K153N|C1orf93_uc001ajv.1_Missense_Mutation_p.K171N|C1orf93_uc010nzd.1_Missense_Mutation_p.K160T|C1orf93_uc010nze.1_Intron|C1orf93_uc010nzf.1_Intron|C1orf93_uc001ajx.1_Silent_p.R37R NM_152371 NP_689584 Q8TBF2 PGFS_HUMAN hypothetical protein LOC127281 153 prostaglandin biosynthetic process cytosol oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor central_nervous_system(1) 1 all_cancers(77;0.000167)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634) all_epithelial(116;1.97e-16)|all_lung(118;3.05e-07)|Lung NSC(185;2.8e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151) Epithelial(90;4.76e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.19e-23)|GBM - Glioblastoma multiforme(42;1.13e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.00205)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199) TGGTCAGCAAAGGTGGGTCGA 0.637 41 170 --- --- --- --- PASS PTCHD2 57540 broad.mit.edu 37 1 11589694 11589694 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:11589694C>A uc001ash.3 + 14 3018 c.2880C>A c.(2878-2880)TCC>TCA p.S960S NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 960 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) TGCTTAGCTCCAGCCCCGATG 0.627 8 58 --- --- --- --- PASS AGMAT 79814 broad.mit.edu 37 1 15905419 15905419 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:15905419C>T uc001awv.1 - 4 798 c.655G>A c.(655-657)GTG>ATG p.V219M DNAJC16_uc001awu.2_Intron NM_024758 NP_079034 Q9BSE5 SPEB_HUMAN agmatine ureohydrolase (agmatinase) precursor 219 putrescine biosynthetic process|spermidine biosynthetic process mitochondrion agmatinase activity|metal ion binding skin(1) 1 Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649) ATCTGCACCACACGCTTACAG 0.627 5 36 --- --- --- --- PASS ZBTB17 7709 broad.mit.edu 37 1 16269916 16269916 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:16269916C>T uc001axl.3 - 12 1914 c.1675G>A c.(1675-1677)GTC>ATC p.V559I ZBTB17_uc010obq.1_Missense_Mutation_p.V476I|ZBTB17_uc010obr.1_Missense_Mutation_p.V559I|ZBTB17_uc010obs.1_Missense_Mutation_p.V483I NM_003443 NP_003434 Q13105 ZBT17_HUMAN zinc finger and BTB domain containing 17 559 C2H2-type 10. negative regulation of cell cycle nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CGCTCGCAGACGTAGGGCTTC 0.657 11 90 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21014254 21014254 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:21014254G>T uc001bdr.3 - 8 1683 c.1565C>A c.(1564-1566)GCG>GAG p.A522E KIF17_uc001bdp.3_5'Flank|KIF17_uc001bdq.3_5'Flank|KIF17_uc009vpx.2_Intron|KIF17_uc001bds.3_Missense_Mutation_p.A522E NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 522 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GGGCAGCTCCGCAAACCTGGA 0.542 27 86 --- --- --- --- PASS ALPL 249 broad.mit.edu 37 1 21904050 21904050 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:21904050G>A uc001bet.2 + 12 1741 c.1484G>A c.(1483-1485)GGC>GAC p.G495D ALPL_uc010odn.1_Missense_Mutation_p.G443D|ALPL_uc010odo.1_Missense_Mutation_p.G440D|ALPL_uc010odp.1_Missense_Mutation_p.G418D|ALPL_uc001beu.3_Missense_Mutation_p.G495D NM_000478 NP_000469 P05186 PPBT_HUMAN tissue-nonspecific alkaline phosphatase 495 response to vitamin D|skeletal system development anchored to membrane|cytoplasm|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146) Amifostine(DB01143) GCCAACCTCGGCCACTGTGCT 0.687 11 15 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23191524 23191524 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:23191524C>T uc009vqj.1 + 5 1267 c.1122C>T c.(1120-1122)CGC>CGT p.R374R EPHB2_uc001bge.2_Silent_p.R374R|EPHB2_uc001bgf.2_Silent_p.R374R|EPHB2_uc010odu.1_Silent_p.R374R|hsa-mir-4253|MI0015860_5'Flank NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 374 Extracellular (Potential).|Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCTGCACCCGCTGCGGGGACA 0.637 Hereditary_Prostate_Cancer 4 81 --- --- --- --- PASS SERINC2 347735 broad.mit.edu 37 1 31906004 31906004 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:31906004G>T uc010ogh.1 + 9 1417 c.1216G>T c.(1216-1218)GTC>TTC p.V406F SERINC2_uc010ogg.1_Missense_Mutation_p.V403F|SERINC2_uc001bst.2_Missense_Mutation_p.V402F|SERINC2_uc001bsu.2_Missense_Mutation_p.V347F|SERINC2_uc001bsv.2_Missense_Mutation_p.V347F NM_178865 NP_849196 Q96SA4 SERC2_HUMAN tumor differentially expressed 2-like 403 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151) CTCACTGCACGTCATGATGAC 0.627 17 57 --- --- --- --- PASS HMGB4 127540 broad.mit.edu 37 1 34330145 34330145 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:34330145G>C uc001bxp.2 + 2 2096 c.353G>C c.(352-354)TGG>TCG p.W118S CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxq.2_Missense_Mutation_p.W44S NM_145205 NP_660206 Q8WW32 HMGB4_HUMAN HMG2 like isoform 1 118 nucleus DNA binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) AACCCGAACTGGTCGGTGGTG 0.577 15 73 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37270665 37270665 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:37270665C>A uc001caz.2 - 15 2623 c.2488G>T c.(2488-2490)GCC>TCC p.A830S GRIK3_uc001cba.1_Missense_Mutation_p.A830S NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 830 Helical; (Potential). negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) ACCAGCCCGGCGGCCAGGACA 0.607 39 58 --- --- --- --- PASS IPO13 9670 broad.mit.edu 37 1 44415611 44415611 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:44415611C>A uc001ckx.2 + 2 1402 c.607C>A c.(607-609)CCG>ACG p.P203T NM_014652 NP_055467 O94829 IPO13_HUMAN importin 13 203 HEAT 2. protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGCTGTCTTCCCGCTGCTGGA 0.637 5 16 --- --- --- --- PASS ERI3 79033 broad.mit.edu 37 1 44687311 44687311 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:44687311G>A uc001clt.2 - 9 1174 c.933C>T c.(931-933)GAC>GAT p.D311D ERI3_uc010okv.1_Silent_p.D134D|ERI3_uc009vxg.2_Silent_p.D339D|ERI3_uc010okw.1_Silent_p.D233D|ERI3_uc001clu.2_Missense_Mutation_p.T200M NM_024066 NP_076971 O43414 ERI3_HUMAN prion protein interacting protein 311 Exonuclease. intracellular exonuclease activity|metal ion binding|nucleic acid binding ovary(2)|large_intestine(1) 3 TCTTGCAGTCGTCTAAAAAGG 0.522 14 50 --- --- --- --- PASS PTCH2 8643 broad.mit.edu 37 1 45292393 45292393 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:45292393G>A uc010olf.1 - 18 2755 c.2743C>T c.(2743-2745)CGT>TGT p.R915C PTCH2_uc010olg.1_Missense_Mutation_p.R613C NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 915 Extracellular (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) TGGAGGCCACGCAGCAGGAAG 0.532 Basal_Cell_Nevus_syndrome 4 29 --- --- --- --- PASS ECHDC2 55268 broad.mit.edu 37 1 53370344 53370344 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:53370344C>A uc001cup.3 - 7 922 c.676G>T c.(676-678)GCA>TCA p.A226S ECHDC2_uc001cun.2_Missense_Mutation_p.A149S|ECHDC2_uc001cuo.3_Missense_Mutation_p.A195S|ECHDC2_uc010onk.1_Missense_Mutation_p.A180S NM_018281 NP_060751 Q86YB7 ECHD2_HUMAN enoyl Coenzyme A hydratase domain containing 2 226 fatty acid metabolic process mitochondrion lyase activity central_nervous_system(1) 1 TGGGCCAGTGCTCGTGCCCGC 0.672 8 22 --- --- --- --- PASS C1orf87 127795 broad.mit.edu 37 1 60538308 60538308 + Nonsense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:60538308G>C uc001czs.1 - 2 100 c.8C>G c.(7-9)TCA>TGA p.S3* NM_152377 NP_689590 Q8N0U7 CA087_HUMAN hypothetical protein LOC127795 3 calcium ion binding ovary(1)|breast(1) 2 CTTCCAGGCTGAAGACATGAT 0.428 30 70 --- --- --- --- PASS INADL 10207 broad.mit.edu 37 1 62503707 62503707 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:62503707C>G uc001dab.2 + 30 4132 c.4018C>G c.(4018-4020)CCA>GCA p.P1340A INADL_uc009waf.1_Missense_Mutation_p.P1340A|INADL_uc001daa.2_Missense_Mutation_p.P1340A|INADL_uc001dad.3_Missense_Mutation_p.P1037A|INADL_uc001dac.2_RNA|INADL_uc010oot.1_Missense_Mutation_p.P124A|INADL_uc009wag.2_Missense_Mutation_p.P124A|INADL_uc010oou.1_Missense_Mutation_p.P13A NM_176877 NP_795352 Q8NI35 INADL_HUMAN InaD-like 1340 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding ovary(3)|skin(1) 4 ATCAAGTTCTCCATCTTCTAT 0.383 8 61 --- --- --- --- PASS L1TD1 54596 broad.mit.edu 37 1 62675738 62675738 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:62675738G>T uc001dae.3 + 4 1594 c.1292G>T c.(1291-1293)GGG>GTG p.G431V NM_019079 NP_061952 Q5T7N2 LITD1_HUMAN LINE-1 type transposase domain containing 1 431 Glu-rich. ovary(1)|skin(1) 2 gaggcctcagggctagaggag 0.224 13 39 --- --- --- --- PASS DNAJC6 9829 broad.mit.edu 37 1 65855271 65855271 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:65855271T>C uc001dcd.1 + 11 1422 c.1258T>C c.(1258-1260)TAC>CAC p.Y420H DNAJC6_uc001dcc.1_Missense_Mutation_p.Y451H|DNAJC6_uc010opc.1_Missense_Mutation_p.Y407H|DNAJC6_uc001dce.1_Missense_Mutation_p.Y477H NM_014787 NP_055602 O75061 AUXI_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 6 420 cellular membrane organization|post-Golgi vesicle-mediated transport cytosol heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding large_intestine(1)|lung(1)|ovary(1) 3 CCCCAGGCATTACGGACAAAG 0.403 16 119 --- --- --- --- PASS IL23R 149233 broad.mit.edu 37 1 67724192 67724192 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:67724192G>A uc001ddo.2 + 11 1356 c.1271G>A c.(1270-1272)AGT>AAT p.S424N IL23R_uc009waz.2_Missense_Mutation_p.S221N|IL23R_uc001ddp.2_Intron|IL23R_uc010opi.1_RNA|IL23R_uc010opj.1_Missense_Mutation_p.S22N|IL23R_uc010opk.1_3'UTR|IL23R_uc010opl.1_Missense_Mutation_p.S6N|IL23R_uc010opm.1_RNA|IL23R_uc001ddq.2_Missense_Mutation_p.S170N|IL23R_uc010opn.1_Missense_Mutation_p.S269N|IL23R_uc001ddr.2_RNA|IL23R_uc010opo.1_Intron|IL23R_uc010opp.1_Intron|IL23R_uc010opq.1_Intron|IL23R_uc010opr.1_Intron|IL23R_uc010ops.1_Missense_Mutation_p.S221N|IL23R_uc010opt.1_Missense_Mutation_p.S65N|IL23R_uc010opu.1_Missense_Mutation_p.S120N|IL23R_uc010opv.1_Missense_Mutation_p.S182N|IL23R_uc010opw.1_Missense_Mutation_p.S59N|IL23R_uc010opx.1_Missense_Mutation_p.S65N|IL23R_uc010opy.1_Missense_Mutation_p.S191N|IL23R_uc010opz.1_Missense_Mutation_p.S65N|IL23R_uc010oqa.1_Missense_Mutation_p.S65N|IL23R_uc010oqb.1_Missense_Mutation_p.S253N|IL23R_uc010oqc.1_Missense_Mutation_p.S140N|IL23R_uc010oqd.1_Missense_Mutation_p.S59N|IL23R_uc010oqe.1_Missense_Mutation_p.S22N|IL23R_uc010oqf.1_Missense_Mutation_p.S22N|IL23R_uc010oqg.1_Missense_Mutation_p.S22N|IL23R_uc010oqh.1_Missense_Mutation_p.S65N|IL23R_uc001dds.2_Missense_Mutation_p.S169N|IL23R_uc001ddt.2_Missense_Mutation_p.S22N NM_144701 NP_653302 Q5VWK5 IL23R_HUMAN interleukin 23 receptor precursor 424 Cytoplasmic (Potential). inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide interleukin-23 receptor complex receptor activity 0 AATAATTCCAGTGAGCAGGTC 0.343 11 246 --- --- --- --- PASS RPE65 6121 broad.mit.edu 37 1 68910529 68910529 + Missense_Mutation SNP C G G rs61752874 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:68910529C>G uc001dei.1 - 4 337 c.283G>C c.(283-285)GAG>CAG p.E95Q NM_000329 NP_000320 Q16518 RPE65_HUMAN retinal pigment epithelium-specific protein 95 E -> Q (in RP20). visual perception cytoplasm|plasma membrane all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity ovary(1) 1 ATCCTTTTCTCAGTCATTGCC 0.448 17 93 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70477548 70477548 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:70477548A>T uc001dep.2 + 10 989 c.959A>T c.(958-960)TAC>TTC p.Y320F LRRC7_uc009wbg.2_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 320 LRR 13. centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 ACTATTGGCTACCTTCATAGT 0.308 13 50 --- --- --- --- PASS LRRIQ3 127255 broad.mit.edu 37 1 74507411 74507411 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:74507411G>A uc001dfy.3 - 7 1396 c.1204C>T c.(1204-1206)CGG>TGG p.R402W LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 402 ovary(2) 2 TTCATACTCCGCTCCAATCGT 0.348 42 64 --- --- --- --- PASS ASB17 127247 broad.mit.edu 37 1 76384686 76384686 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:76384686G>A uc001dhe.1 - 3 979 c.839C>T c.(838-840)TCA>TTA p.S280L ASB17_uc001dhf.1_RNA NM_080868 NP_543144 Q8WXJ9 ASB17_HUMAN ankyrin repeat and SOCS box-containing 17 280 SOCS box. intracellular signal transduction ovary(1) 1 AATTAGAAGTGAAAATATTCC 0.348 23 81 --- --- --- --- PASS PTGFR 5737 broad.mit.edu 37 1 78959186 78959186 + Missense_Mutation SNP C A A rs145816454 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:78959186C>A uc001din.2 + 2 1024 c.758C>A c.(757-759)GCG>GAG p.A253E PTGFR_uc001dim.2_Missense_Mutation_p.A253E NM_000959 NP_000950 P43088 PF2R_HUMAN prostaglandin F receptor isoform a precursor 253 Helical; Name=6; (Potential). parturition extracellular region|integral to plasma membrane prostaglandin F receptor activity p.A253V(2) ovary(3)|breast(2)|skin(1) 6 Colorectal(170;0.248) Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287) CAGCTCCTGGCGATAATGTGT 0.393 10 73 --- --- --- --- PASS CLCA1 1179 broad.mit.edu 37 1 86965439 86965439 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:86965439C>T uc001dlt.2 + 14 2585 c.2456C>T c.(2455-2457)GCC>GTC p.A819V NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 819 calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) CCAAAGGAAGCCAACTCTGAG 0.363 35 117 --- --- --- --- PASS GLMN 11146 broad.mit.edu 37 1 92763522 92763522 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:92763522C>T uc001dor.2 - 2 150 c.35G>A c.(34-36)AGA>AAA p.R12K RPAP2_uc001dot.2_5'Flank|RPAP2_uc009wdh.2_5'Flank|GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.R12K NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 12 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) ACTTACACATCTCTTTATTAT 0.294 Multiple_Glomus_Tumors_(of_the_Skin)_Familial 10 53 --- --- --- --- PASS BCAR3 8412 broad.mit.edu 37 1 94037322 94037322 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:94037322G>C uc001dpz.2 - 9 2154 c.1879C>G c.(1879-1881)CTG>GTG p.L627V BCAR3_uc001dqa.2_Missense_Mutation_p.L627V|BCAR3_uc001dqb.2_Missense_Mutation_p.L627V|BCAR3_uc001dpx.3_Missense_Mutation_p.L303V|BCAR3_uc001dpy.2_Missense_Mutation_p.L536V|BCAR3_uc009wdm.1_Missense_Mutation_p.L303V NM_003567 NP_003558 O75815 BCAR3_HUMAN breast cancer antiestrogen resistance 3 627 Ras-GEF. response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) ATCTTACTCAGAGTGGCCGCT 0.542 31 133 --- --- --- --- PASS F3 2152 broad.mit.edu 37 1 94998715 94998715 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:94998715G>C uc001dqr.2 - 4 701 c.522C>G c.(520-522)AGC>AGG p.S174R F3_uc001dqp.2_RNA|F3_uc001dqq.2_RNA|F3_uc001dqs.2_Missense_Mutation_p.S174R NM_001993 NP_001984 P13726 TF_HUMAN coagulation factor III precursor 174 Extracellular (Potential). activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade extracellular matrix|extracellular space|integral to membrane cell surface binding|phospholipid binding|protease binding central_nervous_system(1) 1 all_lung(203;0.00106)|Lung NSC(277;0.00475) all cancers(265;0.0232)|Epithelial(280;0.121) Coagulation factor VIIa(DB00036) CATCCCGGAGGCTTAGGAAAG 0.373 10 57 --- --- --- --- PASS COL11A1 1301 broad.mit.edu 37 1 103540304 103540304 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:103540304T>A uc001dul.2 - 4 839 c.521A>T c.(520-522)AAA>ATA p.K174I COL11A1_uc001dum.2_Missense_Mutation_p.K174I|COL11A1_uc001dun.2_Missense_Mutation_p.K174I|COL11A1_uc009weh.2_Missense_Mutation_p.K174I NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 174 TSP N-terminal. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TGTCACAGTTTTCTTCTCCAC 0.383 19 46 --- --- --- --- PASS GPSM2 29899 broad.mit.edu 37 1 109441604 109441604 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:109441604C>A uc010ovc.1 + 7 1281 c.785C>A c.(784-786)TCG>TAG p.S262* AKNAD1_uc010ovb.1_Intron|GPSM2_uc010ovd.1_Nonsense_Mutation_p.S262*|GPSM2_uc010ove.1_Nonsense_Mutation_p.S262* NM_013296 NP_037428 P81274 GPSM2_HUMAN LGN protein 262 TPR 6. G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding central_nervous_system(1) 1 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) GAAACTGCCTCGGAATACTAC 0.323 3 36 --- --- --- --- PASS CELSR2 1952 broad.mit.edu 37 1 109794997 109794997 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:109794997G>A uc001dxa.3 + 1 2357 c.2296G>A c.(2296-2298)GCT>ACT p.A766T NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 766 Cadherin 6.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) AGACACGGGGGCTGTCACCAC 0.582 15 35 --- --- --- --- PASS PROK1 84432 broad.mit.edu 37 1 110996617 110996617 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:110996617C>A uc001dzs.2 + 2 158 c.107C>A c.(106-108)ACC>AAC p.T36N NM_032414 NP_115790 P58294 PROK1_HUMAN prokineticin 1 precursor 36 angiogenesis|positive regulation of cell division extracellular region growth factor activity 0 all_cancers(81;6.23e-06)|all_epithelial(167;2.12e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|all cancers(265;0.0699)|Epithelial(280;0.0753)|Colorectal(144;0.105)|LUSC - Lung squamous cell carcinoma(189;0.135) GGGGCAGGCACCTGCTGTGCC 0.627 23 45 --- --- --- --- PASS RSBN1 54665 broad.mit.edu 37 1 114308980 114308980 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:114308980G>A uc001edq.2 - 7 2067 c.2031C>T c.(2029-2031)TTC>TTT p.F677F RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 677 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTAGGGATGAAGTAGATAT 0.443 56 86 --- --- --- --- PASS PIP5K1A 8394 broad.mit.edu 37 1 151214676 151214676 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:151214676A>G uc001exj.2 + 13 1893 c.1441A>G c.(1441-1443)ATT>GTT p.I481V PIP5K1A_uc001exi.2_Missense_Mutation_p.I468V|PIP5K1A_uc010pcu.1_Missense_Mutation_p.I441V|PIP5K1A_uc001exk.2_Intron|PIP5K1A_uc010pcv.1_Intron NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 481 phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) CAACTCCTGCATTACTTACCA 0.542 47 187 --- --- --- --- PASS PSMD4 5710 broad.mit.edu 37 1 151237918 151237918 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:151237918A>G uc001exl.2 + 6 549 c.487A>G c.(487-489)AAA>GAA p.K163E PSMD4_uc001exn.2_Missense_Mutation_p.K163E NM_002810 NP_002801 P55036 PSMD4_HUMAN proteasome 26S non-ATPase subunit 4 163 VWFA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding 0 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GTTGAATGGCAAAGATGGAAC 0.517 22 72 --- --- --- --- PASS PSMB4 5692 broad.mit.edu 37 1 151372480 151372480 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:151372480C>T uc001eyc.1 + 2 187 c.164C>T c.(163-165)TCA>TTA p.S55L PSMB4_uc010pda.1_Missense_Mutation_p.S55L|PSMB4_uc001eyb.1_Missense_Mutation_p.S55L NM_002796 NP_002787 P28070 PSB4_HUMAN proteasome beta 4 subunit 55 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome core complex threonine-type endopeptidase activity ovary(2) 2 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) ACCGGGACCTCAGTCCTCGGC 0.597 17 94 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152192197 152192197 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:152192197G>C uc001ezt.1 - 3 1984 c.1908C>G c.(1906-1908)CAC>CAG p.H636Q NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 636 6. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGCTGACCGTGGCTGGAAG 0.572 57 298 --- --- --- --- PASS LCE2D 353141 broad.mit.edu 37 1 152636715 152636715 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:152636715C>G uc001fag.2 + 2 189 c.134C>G c.(133-135)TCT>TGT p.S45C NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 45 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGCAGTCTCTTCCTGCTGT 0.637 30 142 --- --- --- --- PASS NUP210L 91181 broad.mit.edu 37 1 154029319 154029319 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:154029319T>G uc001fdw.2 - 23 3284 c.3212A>C c.(3211-3213)AAA>ACA p.K1071T NUP210L_uc009woq.2_Intron|NUP210L_uc010peh.1_Missense_Mutation_p.K1071T NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 1071 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGATGTGTATTTTCTTCCCAT 0.368 34 64 --- --- --- --- PASS HAX1 10456 broad.mit.edu 37 1 154245903 154245903 + Missense_Mutation SNP C A A rs11556344 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:154245903C>A uc001fes.2 + 2 306 c.145C>A c.(145-147)CCA>ACA p.P49T HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_Missense_Mutation_p.P49T|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_Missense_Mutation_p.P23T NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 49 actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CCGTGGGAACCCAAGGTTCCA 0.532 Kostmann_syndrome 4 59 --- --- --- --- PASS CHRNB2 1141 broad.mit.edu 37 1 154544245 154544245 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:154544245G>A uc001ffg.2 + 5 1210 c.946G>A c.(946-948)GTG>ATG p.V316M NM_000748 NP_000739 P17787 ACHB2_HUMAN neuronal nicotinic acetylcholine receptor beta 2 316 Helical; (Potential). B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) Nicotine(DB00184) CGTCACCAGCGTGTGCGTGCT 0.622 10 54 --- --- --- --- PASS CD1A 909 broad.mit.edu 37 1 158226630 158226630 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:158226630A>G uc001frt.2 + 4 1192 c.659A>G c.(658-660)CAG>CGG p.Q220R NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 220 Extracellular (Potential).|Ig-like. antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) GGCCATCTGCAGCTTGTGTGC 0.567 18 79 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517747 158517747 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:158517747A>T uc010pil.1 - 1 149 c.149T>A c.(148-150)ATC>AAC p.I50N NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 50 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) AGCTAAGATGATAAGAAGATT 0.478 13 54 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158655087 158655087 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:158655087C>T uc001fst.1 - 2 274 c.75G>A c.(73-75)CAG>CAA p.Q25Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 25 Spectrin 1. 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) GACGCCTCTCCTGGATCTCTT 0.353 37 154 --- --- --- --- PASS FCRL6 343413 broad.mit.edu 37 1 159779427 159779427 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:159779427C>T uc001fud.3 + 5 882 c.840C>T c.(838-840)AAC>AAT p.N280N FCRL6_uc001fuc.2_Silent_p.N287N|FCRL6_uc009wsz.1_Silent_p.N185N|FCRL6_uc009wta.2_Silent_p.N280N NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 280 Ig-like C2-type 3.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) AGGCTGAGAACAGTGTCTCCA 0.562 21 42 --- --- --- --- PASS IGSF9 57549 broad.mit.edu 37 1 159900553 159900553 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:159900553T>C uc001fur.2 - 14 1940 c.1742A>G c.(1741-1743)CAG>CGG p.Q581R IGSF9_uc001fuq.2_Missense_Mutation_p.Q565R|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 isoform a 581 Fibronectin type-III 1.|Extracellular (Potential). cell junction|integral to membrane|synapse ovary(2)|central_nervous_system(2)|large_intestine(1) 5 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) CACGCTGAACTGGTACTGGGT 0.597 15 63 --- --- --- --- PASS LY9 4063 broad.mit.edu 37 1 160784267 160784267 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:160784267A>G uc001fwu.2 + 4 838 c.788A>G c.(787-789)GAG>GGG p.E263G LY9_uc010pjs.1_Missense_Mutation_p.E263G|LY9_uc001fwv.2_Missense_Mutation_p.E263G|LY9_uc001fww.2_Missense_Mutation_p.E263G|LY9_uc001fwx.2_Missense_Mutation_p.E263G|LY9_uc001fwy.1_Missense_Mutation_p.E165G|LY9_uc001fwz.2_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 263 Extracellular (Potential).|Ig-like V-type 2. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) GTCCTGGGAGAGCCAGTCACC 0.557 16 73 --- --- --- --- PASS FCGR3A 2214 broad.mit.edu 37 1 161518451 161518451 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:161518451C>T uc001gat.3 - 4 216 c.79G>A c.(79-81)GTG>ATG p.V27M FCGR3A_uc001gar.2_Missense_Mutation_p.V63M|FCGR3A_uc001gas.2_Missense_Mutation_p.V62M|FCGR3A_uc009wuh.2_Missense_Mutation_p.V26M|FCGR3A_uc009wui.2_Missense_Mutation_p.V27M NM_001127595 NP_001121067 P08637 FCG3A_HUMAN Fc fragment of IgG, low affinity IIIa, receptor 27 Ig-like C2-type 1.|Extracellular (Potential). immune response|regulation of immune response extracellular region|integral to membrane|plasma membrane IgG binding|receptor activity ovary(1) 1 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGAACACCACAGCCTTTGGG 0.562 5 80 --- --- --- --- PASS FCGR3B 2215 broad.mit.edu 37 1 161599808 161599808 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:161599808C>T uc009wul.2 - 3 353 c.79G>A c.(79-81)GTG>ATG p.V27M NM_000570 NP_000561 O75015 FCG3B_HUMAN low affinity immunoglobulin gamma Fc region 27 immune response anchored to membrane|extracellular region|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGGAACACCACAGCCTTTGGG 0.557 33 35 --- --- --- --- PASS TBX19 9095 broad.mit.edu 37 1 168260434 168260434 + Silent SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:168260434G>T uc001gfl.2 + 2 291 c.240G>T c.(238-240)GGG>GGT p.G80G TBX19_uc001gfj.3_Silent_p.G11G NM_005149 NP_005140 O60806 TBX19_HUMAN T-box 19 80 T-box. anatomical structure morphogenesis nucleus DNA binding 0 all_hematologic(923;0.215) GTGTCACAGGGTTGGACCCCA 0.542 52 166 --- --- --- --- PASS SELE 6401 broad.mit.edu 37 1 169696587 169696587 + Nonsense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:169696587G>T uc001ggm.3 - 10 1705 c.1548C>A c.(1546-1548)TGC>TGA p.C516* C1orf112_uc001ggj.2_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN selectin E precursor 516 Extracellular (Potential).|Sushi 6. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity ovary(3)|skin(2) 5 all_hematologic(923;0.208) AGGCGAACTTGCACACAGTGC 0.547 35 51 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169930205 169930205 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:169930205C>G uc001ggv.2 - 18 2426 c.2155G>C c.(2155-2157)GAC>CAC p.D719H KIFAP3_uc010plx.1_Missense_Mutation_p.D421H NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 719 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) TAGAAAAGGTCAGGTCTTTCG 0.413 7 57 --- --- --- --- PASS FMO2 2327 broad.mit.edu 37 1 171173031 171173031 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:171173031T>A uc001ghk.1 + 6 772 c.655T>A c.(655-657)TGG>AGG p.W219R FMO2_uc010pmd.1_5'UTR NM_001460 NP_001451 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 219 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GCATGGCACCTGGGTCATGAG 0.478 13 60 --- --- --- --- PASS C1orf9 51430 broad.mit.edu 37 1 172555011 172555011 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:172555011A>G uc001giq.3 + 17 1897 c.1581A>G c.(1579-1581)ATA>ATG p.I527M C1orf9_uc010pmm.1_Missense_Mutation_p.I527M|C1orf9_uc009wwd.2_Missense_Mutation_p.I483M|C1orf9_uc010pmn.1_Missense_Mutation_p.I490M|C1orf9_uc010pmo.1_Intron NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 527 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) ATAAAAGTATATCTGAGAATG 0.254 93 137 --- --- --- --- PASS C1orf9 51430 broad.mit.edu 37 1 172558043 172558043 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:172558043A>T uc001giq.3 + 18 2118 c.1802A>T c.(1801-1803)CAG>CTG p.Q601L C1orf9_uc010pmm.1_Missense_Mutation_p.Q601L|C1orf9_uc009wwd.2_Missense_Mutation_p.Q557L|C1orf9_uc010pmn.1_Missense_Mutation_p.Q564L|C1orf9_uc010pmo.1_RNA NM_014283 NP_055098 Q9UBS9 OSPT_HUMAN chromosome 1 open reading frame 9 protein 601 multicellular organismal development|ossification integral to membrane|rough endoplasmic reticulum membrane ovary(2) 2 Breast(1374;0.212) Colorectal(1306;3.98e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00544) AGCGGTGAACAGGAAGATGAA 0.418 19 69 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175048476 175048476 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:175048476C>A uc001gkl.1 + 3 530 c.417C>A c.(415-417)AGC>AGA p.S139R TNN_uc010pmx.1_Missense_Mutation_p.S139R NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 139 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) CAGATCTAAGCCGCCACTGCA 0.637 10 28 --- --- --- --- PASS TNN 63923 broad.mit.edu 37 1 175067548 175067548 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:175067548G>A uc001gkl.1 + 9 2049 c.1936G>A c.(1936-1938)GCC>ACC p.A646T TNN_uc010pmx.1_Missense_Mutation_p.A557T NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 646 Fibronectin type-III 5. 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) GGTGCAGGCCGCCATTGACAA 0.582 30 84 --- --- --- --- PASS FAM5B 57795 broad.mit.edu 37 1 177250324 177250324 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:177250324C>A uc001glf.2 + 8 2324 c.2012C>A c.(2011-2013)CCC>CAC p.P671H FAM5B_uc001glg.2_Missense_Mutation_p.P566H NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN family with sequence similarity 5, member B 671 extracellular region skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 ATGACTGATCCCTCTAAGAAT 0.463 44 73 --- --- --- --- PASS FAM163A 148753 broad.mit.edu 37 1 179782944 179782944 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:179782944G>T uc009wxj.2 + 6 583 c.124G>T c.(124-126)GTT>TTT p.V42F FAM163A_uc001gnj.2_Missense_Mutation_p.V42F|FAM163A_uc009wxk.2_Missense_Mutation_p.V42F NM_173509 NP_775780 Q96GL9 F163A_HUMAN hypothetical protein LOC148753 42 integral to membrane ovary(1) 1 CGGAACCGAGGTTGCAGACGA 0.632 31 45 --- --- --- --- PASS ZNF648 127665 broad.mit.edu 37 1 182026108 182026108 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:182026108G>A uc001goz.2 - 2 1246 c.1038C>T c.(1036-1038)CGC>CGT p.R346R NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 346 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGTCCGAAGAGCGCACGAAGG 0.622 13 25 --- --- --- --- PASS C1orf26 54823 broad.mit.edu 37 1 185159726 185159726 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:185159726G>C uc001grg.3 + 10 1589 c.1475G>C c.(1474-1476)TGT>TCT p.C492S C1orf26_uc001grh.3_Missense_Mutation_p.C492S NM_001105518 NP_001098988 Q5T5J6 SWT1_HUMAN hypothetical protein LOC54823 492 PINc. 0 CTAAAATGCTGTCTCCAGCAC 0.333 11 70 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186114606 186114606 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:186114606C>T uc001grq.1 + 92 14567 c.14338C>T c.(14338-14340)CGG>TGG p.R4780W HMCN1_uc001grs.1_Missense_Mutation_p.R349W NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4780 TSP type-1 5. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GCAGATGCGGCGGTACCGCAC 0.557 33 41 --- --- --- --- PASS ASPM 259266 broad.mit.edu 37 1 197112556 197112556 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:197112556C>A uc001gtu.2 - 3 1083 c.826G>T c.(826-828)GTA>TTA p.V276L ASPM_uc001gtv.2_Missense_Mutation_p.V276L|ASPM_uc001gtw.3_Intron NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 276 mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 GTTTCAGTTACAGCTTTCTCA 0.353 22 92 --- --- --- --- PASS TNNT2 7139 broad.mit.edu 37 1 201333496 201333496 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:201333496C>A uc001gwf.2 - 11 488 c.419G>T c.(418-420)CGT>CTT p.R140L TNNT2_uc009wzn.2_5'Flank|TNNT2_uc009wzo.2_5'Flank|TNNT2_uc009wzp.2_5'Flank|TNNT2_uc001gwg.2_Missense_Mutation_p.R130L|TNNT2_uc001gwh.2_Missense_Mutation_p.R125L|TNNT2_uc001gwi.2_Missense_Mutation_p.R100L|TNNT2_uc009wzr.2_Missense_Mutation_p.R71L|TNNT2_uc001gwj.1_5'Flank|TNNT2_uc009wzs.1_Missense_Mutation_p.R105L|TNNT2_uc001gwk.1_Missense_Mutation_p.R71L|TNNT2_uc009wzt.1_Missense_Mutation_p.R130L NM_000364 NP_000355 P45379 TNNT2_HUMAN troponin T type 2, cardiac isoform 1 140 R -> C (in CMH2). ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|response to calcium ion|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|tropomyosin binding|troponin C binding|troponin I binding 0 CTCTGCCCGACGTCTCTCCTA 0.622 14 20 --- --- --- --- PASS PRELP 5549 broad.mit.edu 37 1 203455862 203455862 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:203455862C>T uc001gzs.2 + 3 1202 c.1002C>T c.(1000-1002)AAC>AAT p.N334N PRELP_uc001gzt.2_Silent_p.N334N NM_002725 NP_002716 P51888 PRELP_HUMAN proline arginine-rich end leucine-rich repeat 334 LRR 11. skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent ovary(1)|central_nervous_system(1)|pancreas(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.109) TTTGCCCCAACGACCTAGTGG 0.572 14 89 --- --- --- --- PASS PIK3C2B 5287 broad.mit.edu 37 1 204438248 204438248 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:204438248T>A uc001haw.2 - 3 1162 c.683A>T c.(682-684)TAT>TTT p.Y228F PIK3C2B_uc010pqv.1_Missense_Mutation_p.Y228F|PIK3C2B_uc001hax.1_Missense_Mutation_p.Y228F|PIK3C2B_uc009xbd.1_RNA NM_002646 NP_002637 O00750 P3C2B_HUMAN phosphoinositide-3-kinase, class 2 beta 228 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding lung(2)|breast(2)|stomach(1)|prostate(1)|central_nervous_system(1) 7 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) GATACCATCATAGTCCACAGA 0.562 198 301 --- --- --- --- PASS LAMB3 3914 broad.mit.edu 37 1 209795922 209795922 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:209795922C>T uc001hhg.2 - 17 3050 c.2660G>A c.(2659-2661)CGC>CAC p.R887H LAMB3_uc009xco.2_Missense_Mutation_p.R887H|LAMB3_uc001hhh.2_Missense_Mutation_p.R887H NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 887 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GAGCCGTGTGCGTCTGACATC 0.617 6 173 --- --- --- --- PASS LAMB3 3914 broad.mit.edu 37 1 209796418 209796418 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:209796418A>T uc001hhg.2 - 16 2855 c.2465T>A c.(2464-2466)CTT>CAT p.L822H LAMB3_uc009xco.2_Missense_Mutation_p.L822H|LAMB3_uc001hhh.2_Missense_Mutation_p.L822H|LAMB3_uc010psl.1_RNA NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 822 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGCCCTGGGAAGGACACCCCT 0.637 13 64 --- --- --- --- PASS HSD11B1 3290 broad.mit.edu 37 1 209907787 209907787 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:209907787T>C uc001hhj.2 + 7 907 c.800T>C c.(799-801)CTG>CCG p.L267P HSD11B1_uc001hhk.2_Missense_Mutation_p.L267P NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 267 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) ACCACTCTTCTGATCAGAAAT 0.478 43 61 --- --- --- --- PASS LEFTY2 7044 broad.mit.edu 37 1 226128595 226128595 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:226128595G>T uc001hpt.1 - 1 326 c.246C>A c.(244-246)TTC>TTA p.F82L LEFTY2_uc010pvk.1_Missense_Mutation_p.F82L|LEFTY2_uc009xek.1_Missense_Mutation_p.F82L NM_003240 NP_003231 O00292 LFTY2_HUMAN endometrial bleeding associated factor 82 cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway extracellular space|platelet alpha granule lumen cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) TCTCACCTCGGAAGCTCTGGC 0.687 35 43 --- --- --- --- PASS ZNF678 339500 broad.mit.edu 37 1 227842954 227842954 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:227842954C>T uc001hqw.1 + 4 1348 c.1003C>T c.(1003-1005)CAC>TAC p.H335Y ZNF678_uc009xet.1_Intron|ZNF678_uc009xeu.1_Intron NM_178549 NP_848644 F5GXA7 F5GXA7_HUMAN zinc finger protein 678 390 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding pancreas(1) 1 Prostate(94;0.0885) TCGGTGTTCACACCTAAGTAG 0.383 9 47 --- --- --- --- PASS TAF5L 27097 broad.mit.edu 37 1 229730793 229730793 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:229730793G>A uc001htq.2 - 5 1187 c.1021C>T c.(1021-1023)CAC>TAC p.H341Y NM_014409 NP_055224 O75529 TAF5L_HUMAN PCAF associated factor 65 beta isoform a 341 WD 2. 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) GGTCCGCAGTGGCCCCGCAGT 0.522 39 48 --- --- --- --- PASS KIAA1383 54627 broad.mit.edu 37 1 232941915 232941915 + Silent SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:232941915A>G uc001hvh.2 + 1 1278 c.1146A>G c.(1144-1146)CCA>CCG p.P382P NM_019090 NP_061963 Q9P2G4 K1383_HUMAN hypothetical protein LOC54627 240 ovary(1) 1 all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169) TAGAAATCCCAGAGGCACAGA 0.488 96 157 --- --- --- --- PASS LYST 1130 broad.mit.edu 37 1 235892930 235892930 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:235892930T>C uc001hxj.2 - 37 9247 c.9072A>G c.(9070-9072)GCA>GCG p.A3024A LYST_uc001hxi.2_Silent_p.A248A NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 3024 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) CTCTAGATGGTGCAACACTGA 0.323 Chediak-Higashi_syndrome 5 65 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237919650 237919650 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:237919650G>A uc001hyl.1 + 81 11328 c.11208G>A c.(11206-11208)GCG>GCA p.A3736A RYR2_uc010pya.1_Silent_p.A151A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3736 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCGTGGCGCGGCTGAGATGG 0.478 14 60 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237948177 237948177 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:237948177G>C uc001hyl.1 + 90 13285 c.13165G>C c.(13165-13167)GGA>CGA p.G4389R RYR2_uc010pya.1_Missense_Mutation_p.G804R NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4389 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGAGAAGGAGGACAGTACAA 0.507 5 25 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241904845 241904845 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:241904845T>C uc001hze.1 + 11 1526 c.1319T>C c.(1318-1320)TTG>TCG p.L440S WDR64_uc001hzf.1_Missense_Mutation_p.L160S B1ANS9 WDR64_HUMAN RecName: Full=WD repeat-containing protein 64; 440 WD 5. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) ATGTATCCTTTGACTAGGATG 0.348 10 55 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004752 248004752 + Missense_Mutation SNP C A A rs148330672 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:248004752C>A uc001idn.1 - 1 447 c.447G>T c.(445-447)TGG>TGT p.W149C NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCCCTGTGCACCAGGAGACCA 0.577 18 61 --- --- --- --- PASS OR2AK2 391191 broad.mit.edu 37 1 248129099 248129099 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:248129099T>C uc010pzd.1 + 1 466 c.466T>C c.(466-468)TGC>CGC p.C156R OR2L13_uc001ids.2_Intron NM_001004491 NP_001004491 Q8NG84 O2AK2_HUMAN olfactory receptor, family 2, subfamily AK, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) CAAGAAGATCTGCTGCCTCAT 0.433 86 120 --- --- --- --- PASS OR2T33 391195 broad.mit.edu 37 1 248436296 248436296 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:248436296G>T uc010pzi.1 - 1 821 c.821C>A c.(820-822)GCC>GAC p.A274D NM_001004695 NP_001004695 Q8NG76 O2T33_HUMAN olfactory receptor, family 2, subfamily T, 274 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AGTATAGAAGGCTGACACAAC 0.483 37 183 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685153 248685153 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr1:248685153T>C uc001ien.1 + 1 206 c.206T>C c.(205-207)GTG>GCG p.V69A NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCTCGTGTGTGGACATCTGC 0.502 5 71 --- --- --- --- PASS SNTG2 54221 broad.mit.edu 37 2 1204851 1204851 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:1204851C>A uc002qwq.2 + 9 782 c.654C>A c.(652-654)GAC>GAA p.D218E SNTG2_uc010ewi.2_Missense_Mutation_p.D91E NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 218 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) GCTGGCTGGACACCTTGTCCG 0.522 55 106 --- --- --- --- PASS COLEC11 78989 broad.mit.edu 37 2 3685129 3685129 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:3685129T>C uc002qya.2 + 4 357 c.209T>C c.(208-210)ATG>ACG p.M70T COLEC11_uc002qxz.2_Missense_Mutation_p.M67T|COLEC11_uc002qyb.2_Missense_Mutation_p.M46T|COLEC11_uc002qyc.2_Intron|COLEC11_uc010ewo.2_Intron|COLEC11_uc010ewp.2_Missense_Mutation_p.M44T|COLEC11_uc010ewq.2_Missense_Mutation_p.M20T|COLEC11_uc010ewr.2_Intron|COLEC11_uc010ews.2_Intron NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 70 Collagen-like. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) ACAGGAGACATGGGGGACAAA 0.522 4 110 --- --- --- --- PASS KIDINS220 57498 broad.mit.edu 37 2 8940553 8940553 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:8940553C>T uc002qzc.2 - 9 1059 c.877G>A c.(877-879)GCT>ACT p.A293T KIDINS220_uc010yiv.1_Missense_Mutation_p.A59T|KIDINS220_uc002qzd.2_Missense_Mutation_p.A251T|KIDINS220_uc010yiw.1_Missense_Mutation_p.A294T NM_020738 NP_065789 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate of 220 kDa 293 Cytoplasmic (Potential).|ANK 9. activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TCTATATCAGCATATTTTTGG 0.373 89 250 --- --- --- --- PASS MYCN 4613 broad.mit.edu 37 2 16082189 16082189 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:16082189G>A uc002rci.2 + 2 303 c.3G>A c.(1-3)ATG>ATA p.M1I MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.1_5'UTR NM_005378 NP_005369 P04198 MYCN_HUMAN v-myc myelocytomatosis viral related oncogene, 1 regulation of transcription from RNA polymerase II promoter chromatin|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197) GBM - Glioblastoma multiforme(3;0.000332) GCGAGCCGATGCCGAGCTGCT 0.647 A neuroblastoma 20 37 --- --- --- --- PASS CAD 790 broad.mit.edu 37 2 27440793 27440793 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:27440793C>T uc002rji.2 + 2 293 c.131C>T c.(130-132)TCC>TTC p.S44F CAD_uc010eyw.2_Missense_Mutation_p.S44F NM_004341 NP_004332 P27708 PYR1_HUMAN carbamoylphosphate synthetase 2/aspartate 44 GATase (Glutamine amidotransferase). 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity ovary(4)|large_intestine(2)|kidney(2)|lung(1)|pancreas(1) 10 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) ACCGATCCCTCCTACAAGGCA 0.567 15 130 --- --- --- --- PASS GTF3C2 2976 broad.mit.edu 37 2 27560185 27560185 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:27560185C>A uc002rjv.1 - 8 1416 c.1053G>T c.(1051-1053)CAG>CAT p.Q351H GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rju.1_Missense_Mutation_p.Q362H|GTF3C2_uc002rjw.1_Missense_Mutation_p.Q351H|GTF3C2_uc010eyz.1_Missense_Mutation_p.Q351H|uc002rjy.1_RNA NM_001521 NP_001512 Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 351 transcription factor TFIIIC complex ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACTTCTCCTCCTGGGGCAGGT 0.502 9 66 --- --- --- --- PASS BIRC6 57448 broad.mit.edu 37 2 32725073 32725073 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:32725073G>A uc010ezu.2 + 46 9062 c.8928G>A c.(8926-8928)TCG>TCA p.S2976S NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2976 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTCAAGGATCGCCTGCATATG 0.438 62 124 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33500091 33500091 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:33500091G>A uc002ros.2 + 17 2806 c.2806G>A c.(2806-2808)GAG>AAG p.E936K LTBP1_uc002rot.2_Missense_Mutation_p.E610K|LTBP1_uc002rou.2_Missense_Mutation_p.E609K|LTBP1_uc002rov.2_Missense_Mutation_p.E556K|LTBP1_uc010ymz.1_Missense_Mutation_p.E609K|LTBP1_uc010yna.1_Missense_Mutation_p.E556K NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 935 EGF-like 5; 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) TGAAAACACCGAGGGAAGTTT 0.428 53 81 --- --- --- --- PASS RASGRP3 25780 broad.mit.edu 37 2 33784046 33784046 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:33784046G>A uc002rox.2 + 18 2640 c.2013G>A c.(2011-2013)ACG>ACA p.T671T RASGRP3_uc010ync.1_Silent_p.T671T|RASGRP3_uc002roy.2_Silent_p.T670T NM_170672 NP_733772 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and 671 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity lung(3)|ovary(1)|pancreas(1) 5 all_hematologic(175;0.115) ACCGGGGCACGGAGTTTGAAC 0.498 4 38 --- --- --- --- PASS HEATR5B 54497 broad.mit.edu 37 2 37302672 37302672 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:37302672G>C uc002rpp.1 - 5 649 c.553C>G c.(553-555)CTC>GTC p.L185V NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 185 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) TCAGTCAAGAGAGACCTGGCA 0.443 63 158 --- --- --- --- PASS CEBPZ 10153 broad.mit.edu 37 2 37455705 37455705 + Nonsense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:37455705T>A uc002rpz.2 - 2 661 c.631A>T c.(631-633)AAG>TAG p.K211* NM_005760 NP_005751 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein zeta 211 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding pancreas(1) 1 all_hematologic(82;0.21) TGATACAGCTTCTGAGCAAGG 0.428 57 96 --- --- --- --- PASS PKDCC 91461 broad.mit.edu 37 2 42284382 42284382 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:42284382G>T uc002rsg.2 + 6 1423 c.1244G>T c.(1243-1245)AGC>ATC p.S415I NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 415 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 ATCCCAGACAGCACCATCCCC 0.537 58 114 --- --- --- --- PASS LHCGR 3973 broad.mit.edu 37 2 48915920 48915920 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:48915920T>A uc002rwu.3 - 11 1086 c.1016A>T c.(1015-1017)AAG>ATG p.K339M GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 339 Extracellular (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) TCGGGGTGTCTTGGGTAAGCA 0.428 Familial_Male-Limited_Precocious_Puberty 37 170 --- --- --- --- PASS DOK1 1796 broad.mit.edu 37 2 74783971 74783971 + Silent SNP G T T rs139633219 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:74783971G>T uc002sms.2 + 5 1198 c.1176G>T c.(1174-1176)CGG>CGT p.R392R LOXL3_uc002smp.1_5'Flank|LOXL3_uc002smq.1_5'Flank|LOXL3_uc010ffn.1_5'Flank|DOK1_uc002smr.2_Silent_p.R253R|DOK1_uc010ffo.2_Silent_p.R253R|DOK1_uc002smt.2_Silent_p.R178R|DOK1_uc002smu.2_Silent_p.R178R|DOK1_uc010yrz.1_Silent_p.R381R|DOK1_uc002smv.2_Silent_p.R253R|DOK1_uc002smw.1_Silent_p.R178R NM_001381 NP_001372 Q99704 DOK1_HUMAN docking protein 1 392 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding 0 GCCAAGCTCGGGTGAAGGAGG 0.622 65 112 --- --- --- --- PASS REG1B 5968 broad.mit.edu 37 2 79313498 79313498 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:79313498T>C uc002sny.2 - 4 428 c.316A>G c.(316-318)AAA>GAA p.K106E REG1B_uc010ffv.1_Missense_Mutation_p.K106E|REG1B_uc010ffw.2_3'UTR NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 106 C-type lectin. cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 CTGACCTTTTTTGGGTCATGG 0.493 31 55 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136890 80136890 + Silent SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:80136890G>C uc010ysh.1 + 6 1028 c.1023G>C c.(1021-1023)GCG>GCC p.A341A CTNNA2_uc010yse.1_Silent_p.A341A|CTNNA2_uc010ysf.1_Silent_p.A341A|CTNNA2_uc010ysg.1_Silent_p.A341A NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 341 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TGCGGCAGGCGCTCCAGGACC 0.582 23 46 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80782831 80782831 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:80782831G>A uc010ysh.1 + 11 1559 c.1554G>A c.(1552-1554)TTG>TTA p.L518L CTNNA2_uc010yse.1_Silent_p.L518L|CTNNA2_uc010ysf.1_Silent_p.L518L|CTNNA2_uc010ysg.1_Silent_p.L518L|CTNNA2_uc010ysi.1_Silent_p.L150L NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 518 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATCACATCTTGGAGGATGTGA 0.473 21 54 --- --- --- --- PASS MRPS5 64969 broad.mit.edu 37 2 95770424 95770424 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:95770424G>A uc002sub.2 - 7 942 c.724C>T c.(724-726)CGT>TGT p.R242C MRPS5_uc002suc.2_Intron|MRPS5_uc010yud.1_Missense_Mutation_p.R242C NM_031902 NP_114108 P82675 RT05_HUMAN mitochondrial ribosomal protein S5 242 S5 DRBM. translation mitochondrion|ribosome protein binding|RNA binding|structural constituent of ribosome ovary(2)|central_nervous_system(1) 3 ACCAAGACACGGATCGATTTC 0.483 31 96 --- --- --- --- PASS IL18R1 8809 broad.mit.edu 37 2 102984394 102984394 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:102984394G>T uc002tbw.3 + 3 318 c.168G>T c.(166-168)TGG>TGT p.W56C IL18R1_uc010ywb.1_Missense_Mutation_p.W56C|IL18R1_uc010ywc.1_Missense_Mutation_p.W56C|IL18R1_uc010ywd.1_Intron|IL18R1_uc010fiy.2_Missense_Mutation_p.W56C NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 56 Ig-like C2-type 1.|Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 CCAAAAGCTGGTACAAAAGCA 0.453 25 42 --- --- --- --- PASS SLC20A1 6574 broad.mit.edu 37 2 113405296 113405296 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:113405296G>A uc002tib.2 + 4 988 c.542G>A c.(541-543)CGT>CAT p.R181H uc010fkq.1_5'Flank NM_005415 NP_005406 Q8WUM9 S20A1_HUMAN solute carrier family 20 (phosphate 181 Cytoplasmic (Potential). phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to plasma membrane inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity ovary(2) 2 TTCCTGGTTCGTGCATTCATC 0.413 65 246 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125261973 125261973 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:125261973G>A uc002tno.2 + 8 1528 c.1164G>A c.(1162-1164)GGG>GGA p.G388G CNTNAP5_uc010flu.2_Silent_p.G389G NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 388 Laminin G-like 2.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) AAATTGATGGGCTCTCAGTGA 0.547 36 61 --- --- --- --- PASS LCT 3938 broad.mit.edu 37 2 136552233 136552233 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:136552233T>C uc002tuu.1 - 14 5100 c.5089A>G c.(5089-5091)ATC>GTC p.I1697V NM_002299 NP_002290 P09848 LPH_HUMAN lactase-phlorizin hydrolase preproprotein 1697 Extracellular (Potential).|4.|4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.169) AAAGAAGAGATGGCAGTGGCA 0.517 37 72 --- --- --- --- PASS GALNT13 114805 broad.mit.edu 37 2 155099274 155099274 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:155099274G>T uc002tyr.3 + 6 1109 c.542G>T c.(541-543)AGG>ATG p.R181M GALNT13_uc002tyt.3_Missense_Mutation_p.R181M|GALNT13_uc010foc.1_Translation_Start_Site NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 181 Lumenal (Potential).|Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AAAATTATTAGGATGGAAGAA 0.368 14 26 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178565854 178565854 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:178565854T>C uc002ulq.2 - 14 2557 c.2239A>G c.(2239-2241)AGT>GGT p.S747G PDE11A_uc002ulp.2_Missense_Mutation_p.S303G|PDE11A_uc002ulr.2_Missense_Mutation_p.S497G|PDE11A_uc002uls.1_Missense_Mutation_p.S389G|PDE11A_uc002ult.1_Missense_Mutation_p.S497G|PDE11A_uc002ulu.1_Missense_Mutation_p.S389G NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 747 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) TGTACCTCACTTTGAAGGATC 0.502 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 27 76 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178565890 178565890 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:178565890G>T uc002ulq.2 - 14 2521 c.2203C>A c.(2203-2205)CAT>AAT p.H735N PDE11A_uc002ulp.2_Missense_Mutation_p.H291N|PDE11A_uc002ulr.2_Missense_Mutation_p.H485N|PDE11A_uc002uls.1_Missense_Mutation_p.H377N|PDE11A_uc002ult.1_Missense_Mutation_p.H485N|PDE11A_uc002ulu.1_Missense_Mutation_p.H377N NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 735 Catalytic (By similarity). platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(3)|large_intestine(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02) AAATGGTGATGCTCCAAGGTA 0.522 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 25 76 --- --- --- --- PASS OSBPL6 114880 broad.mit.edu 37 2 179196319 179196319 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:179196319A>G uc002ulx.2 + 6 737 c.359A>G c.(358-360)AAG>AGG p.K120R OSBPL6_uc002ulw.2_Missense_Mutation_p.K120R|OSBPL6_uc002uly.2_Missense_Mutation_p.K120R|OSBPL6_uc010zfe.1_Missense_Mutation_p.K120R|OSBPL6_uc002ulz.2_Missense_Mutation_p.K120R|OSBPL6_uc002uma.2_Missense_Mutation_p.K99R NM_032523 NP_115912 Q9BZF3 OSBL6_HUMAN oxysterol-binding protein-like protein 6 isoform 120 PH. lipid transport lipid binding pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) AAGTATTCAAAGGCACCACTC 0.383 26 102 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179410595 179410595 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:179410595G>T uc010zfg.1 - 292 87888 c.87664C>A c.(87664-87666)CCT>ACT p.P29222T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.P22917T|TTN_uc010zfi.1_Missense_Mutation_p.P22850T|TTN_uc010zfj.1_Missense_Mutation_p.P22725T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30149 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) GGCACACCAGGGCCATATTTG 0.398 34 138 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179453963 179453963 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:179453963G>T uc010zfg.1 - 253 55009 c.54785C>A c.(54784-54786)TCT>TAT p.S18262Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S11957Y|TTN_uc010zfi.1_Missense_Mutation_p.S11890Y|TTN_uc010zfj.1_Missense_Mutation_p.S11765Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 19189 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) TTTAGTAAGAGAAAATTTAGA 0.433 35 153 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179643974 179643974 + Silent SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:179643974A>T uc010zfg.1 - 23 4169 c.3945T>A c.(3943-3945)TCT>TCA p.S1315S TTN_uc010zfh.1_Silent_p.S1269S|TTN_uc010zfi.1_Silent_p.S1269S|TTN_uc010zfj.1_Silent_p.S1269S|TTN_uc002unb.2_Silent_p.S1315S|uc002unc.1_Intron NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1315 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) ATGGATATCCAGACATCTTGC 0.308 12 61 --- --- --- --- PASS ALS2 57679 broad.mit.edu 37 2 202593831 202593831 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:202593831T>C uc002uyo.2 - 14 3012 c.2656A>G c.(2656-2658)AGG>GGG p.R886G ALS2_uc002uyp.3_Missense_Mutation_p.R886G|ALS2_uc010ftl.2_RNA NM_020919 NP_065970 Q96Q42 ALS2_HUMAN alsin isoform 1 886 cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity skin(5)|lung(1)|breast(1) 7 GCTTCCTTCCTTTTCCTGCCG 0.458 4 165 --- --- --- --- PASS ZDBF2 57683 broad.mit.edu 37 2 207174722 207174722 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:207174722C>T uc002vbp.2 + 5 5720 c.5470C>T c.(5470-5472)CCT>TCT p.P1824S NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1824 nucleic acid binding|zinc ion binding ovary(3) 3 GCCTCATGTACCTCCTTCATT 0.413 7 72 --- --- --- --- PASS ADAM23 8745 broad.mit.edu 37 2 207412220 207412220 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:207412220A>T uc002vbq.2 + 7 1011 c.788A>T c.(787-789)AAT>ATT p.N263I ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 263 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) CAAATGAAGAATCTCAGTAAG 0.353 8 46 --- --- --- --- PASS LOC200726 200726 broad.mit.edu 37 2 207509077 207509077 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:207509077G>T uc010fuh.1 + 2 292 c.117G>T c.(115-117)TTG>TTT p.L39F NM_001102659 NP_001096129 hypothetical protein LOC200726 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133) AGACAGACTTGCTGGCTCTTA 0.532 16 18 --- --- --- --- PASS CPS1 1373 broad.mit.edu 37 2 211460258 211460258 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:211460258G>T uc002vee.3 + 13 1443 c.1311G>T c.(1309-1311)CAG>CAT p.Q437H CPS1_uc010fur.2_Missense_Mutation_p.Q443H|CPS1_uc010fus.2_Translation_Start_Site NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 437 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCATTGGTCAGGCTGGAGAAT 0.368 35 144 --- --- --- --- PASS SLC4A3 6508 broad.mit.edu 37 2 220501521 220501521 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:220501521G>A uc002vmp.3 + 16 2729 c.2460G>A c.(2458-2460)TCG>TCA p.S820S SLC4A3_uc002vmo.3_Silent_p.S847S|SLC4A3_uc010fwm.2_Silent_p.S370S|SLC4A3_uc010fwn.1_Silent_p.S329S NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 820 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTACATCTCGCCTTTCACCC 0.572 67 127 --- --- --- --- PASS FARSB 10056 broad.mit.edu 37 2 223436659 223436659 + Silent SNP G A A rs141929079 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:223436659G>A uc002vne.1 - 17 1736 c.1701C>T c.(1699-1701)GAC>GAT p.D567D FARSB_uc010zlq.1_Silent_p.D587D|FARSB_uc002vnf.1_Silent_p.D468D NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 567 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TGGTGATAACGTCAGGATGAA 0.502 4 45 --- --- --- --- PASS CHRNG 1146 broad.mit.edu 37 2 233410280 233410280 + Silent SNP C A A rs121912671 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:233410280C>A uc002vsx.1 + 12 1429 c.1408C>A c.(1408-1410)CGA>AGA p.R470R CHRNG_uc010fye.1_Silent_p.R418R NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 470 Cytoplasmic (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CCTGGTGGGCCGAGTGCTGGA 0.632 15 18 --- --- --- --- PASS INPP5D 3635 broad.mit.edu 37 2 234091054 234091054 + Splice_Site SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:234091054A>T uc010zmo.1 + 18 2225 c.2072_splice c.e18-2 p.G691_splice INPP5D_uc010zmp.1_Splice_Site_p.G690_splice NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN SH2 containing inositol phosphatase isoform a apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway cytosol inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding ovary(1)|central_nervous_system(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCTCCCCTGCAGGCAGTACCA 0.517 20 100 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238275720 238275720 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:238275720C>T uc002vwl.2 - 11 5395 c.5110G>A c.(5110-5112)GAC>AAC p.D1704N COL6A3_uc002vwo.2_Missense_Mutation_p.D1498N|COL6A3_uc010znj.1_Missense_Mutation_p.D1097N NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1704 VWFA 9.|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) TTGATGGCGTCAATAATCTGC 0.527 4 38 --- --- --- --- PASS COL6A3 1293 broad.mit.edu 37 2 238289868 238289868 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:238289868T>C uc002vwl.2 - 5 1872 c.1587A>G c.(1585-1587)CTA>CTG p.L529L COL6A3_uc002vwo.2_Silent_p.L323L|COL6A3_uc010znj.1_Silent_p.L122L|COL6A3_uc002vwq.2_Silent_p.L323L|COL6A3_uc002vwr.2_Silent_p.L122L|COL6A3_uc010znk.1_Silent_p.L529L NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 529 VWFA 3.|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) GAACAAAGTCTAGAGCAGAGC 0.512 25 151 --- --- --- --- PASS SEPT2 4735 broad.mit.edu 37 2 242287601 242287601 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:242287601G>C uc002wbc.2 + 12 1400 c.979G>C c.(979-981)GCT>CCT p.A327P SEPT2_uc002wbd.2_Missense_Mutation_p.A327P|SEPT2_uc002wbf.2_Missense_Mutation_p.A327P|SEPT2_uc002wbg.2_Missense_Mutation_p.A327P|SEPT2_uc002wbh.2_Missense_Mutation_p.A337P|SEPT2_uc010zop.1_Missense_Mutation_p.A362P NM_001008491 NP_001008491 Q15019 SEPT2_HUMAN septin 2 327 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(1) 1 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) GGAAAAAGAAGCTGAGGTAAG 0.219 43 58 --- --- --- --- PASS LOC401052 401052 broad.mit.edu 37 3 10049250 10049250 + Silent SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:10049250G>T uc003bur.1 - 4 749 c.135C>A c.(133-135)ACC>ACA p.T45T CIDEC_uc003bto.2_Intron NM_001008737 NP_001008737 B3KMQ7 B3KMQ7_HUMAN hypothetical protein LOC401052 45 0 AGTGCTTCTGGGTGAGGCAGG 0.572 6 135 --- --- --- --- PASS IQSEC1 9922 broad.mit.edu 37 3 12954962 12954962 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:12954962T>C uc003bxt.2 - 9 2333 c.2324A>G c.(2323-2325)CAG>CGG p.Q775R IQSEC1_uc003bxu.3_Missense_Mutation_p.Q653R|IQSEC1_uc011auw.1_Missense_Mutation_p.Q761R NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 775 PH. regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 GATTTCTCGCTGGTGTAGTCC 0.582 11 13 --- --- --- --- PASS CLASP2 23122 broad.mit.edu 37 3 33602366 33602366 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:33602366T>C uc003cfu.2 - 27 3218 c.2864A>G c.(2863-2865)AAA>AGA p.K955R CLASP2_uc003cfs.2_Missense_Mutation_p.K162R|CLASP2_uc003cft.2_RNA|CLASP2_uc010hgb.2_RNA|CLASP2_uc011axt.1_Missense_Mutation_p.K555R NM_015097 NP_055912 B2RTR1 B2RTR1_HUMAN CLIP-associating protein 2 964 ovary(3)|central_nervous_system(1) 4 ACCCATTTTTTTTAGTAGTTG 0.353 104 93 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35758790 35758790 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:35758790T>A uc003cgb.2 + 13 1200 c.936T>A c.(934-936)AGT>AGA p.S312R ARPP21_uc003cga.2_Intron|ARPP21_uc011axy.1_Missense_Mutation_p.S278R|ARPP21_uc003cgf.2_Intron NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 312 Missing (in Ref. 6; CAB61414). cytoplasm nucleic acid binding ovary(2)|skin(1) 3 TCATTTCCAGTAGGCTCTTGG 0.343 25 32 --- --- --- --- PASS CCBP2 1238 broad.mit.edu 37 3 42906393 42906393 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:42906393T>A uc003cme.2 + 3 578 c.399T>A c.(397-399)TTT>TTA p.F133L CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmf.2_Missense_Mutation_p.F133L|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Intron NM_001296 NP_001287 O00590 CCBP2_HUMAN chemokine binding protein 2 133 Helical; Name=3; (Potential). chemotaxis|immune response|multicellular organismal development integral to plasma membrane C-X-C chemokine receptor activity lung(4)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.241) GTGGCATCTTTTTCATTAGCT 0.522 35 106 --- --- --- --- PASS ADAMTS9 56999 broad.mit.edu 37 3 64587633 64587633 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:64587633C>G uc003dmg.2 - 26 4036 c.4004G>C c.(4003-4005)GGC>GCC p.G1335A ADAMTS9_uc011bfo.1_Missense_Mutation_p.G1307A|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G1164A|ADAMTS9_uc011bfp.1_Missense_Mutation_p.G246A NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 1335 TSP type-1 9. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCCCCAGGGGCCAGTTCTCCA 0.532 29 35 --- --- --- --- PASS HTR1F 3355 broad.mit.edu 37 3 88039993 88039993 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:88039993G>T uc003dqr.2 + 2 252 c.94G>T c.(94-96)GGG>TGG p.G32W NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 32 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) CACTCTGTCTGGGCTGGCACT 0.418 74 167 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89176407 89176407 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:89176407C>G uc003dqy.2 + 2 362 c.137C>G c.(136-138)TCT>TGT p.S46C EPHA3_uc003dqx.1_Missense_Mutation_p.S46C|EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 46 Extracellular (Potential). extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) GGCTGGATCTCTTATCCATCA 0.333 TSP Lung(6;0.00050) 40 89 --- --- --- --- PASS OR5H6 79295 broad.mit.edu 37 3 97983199 97983199 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:97983199T>C uc003dsi.1 + 1 71 c.71T>C c.(70-72)TTG>TCG p.L24S NM_001005479 NP_001005479 Q8NGV6 OR5H6_HUMAN olfactory receptor, family 5, subfamily H, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|large_intestine(1) 3 AATGCAACATTGCTGACAGAG 0.408 18 197 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108773610 108773610 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:108773610T>G uc003dxl.2 - 14 1382 c.1295A>C c.(1294-1296)CAG>CCG p.Q432P MORC1_uc011bhn.1_Missense_Mutation_p.Q432P NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 432 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 GACCAAGTACTGTCCCATGAC 0.383 56 107 --- --- --- --- PASS GRAMD1C 54762 broad.mit.edu 37 3 113658813 113658813 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:113658813G>A uc003eaq.3 + 16 1848 c.1772G>A c.(1771-1773)CGT>CAT p.R591H GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.R424H|GRAMD1C_uc003eas.2_Missense_Mutation_p.R386H|GRAMD1C_uc003eat.2_Missense_Mutation_p.R250H NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 591 integral to membrane ovary(2)|skin(1) 3 TCCTTTTACCGTCTCCGCCTC 0.368 6 107 --- --- --- --- PASS ZBTB20 26137 broad.mit.edu 37 3 114069951 114069951 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:114069951C>G uc003ebi.2 - 4 1154 c.974G>C c.(973-975)GGC>GCC p.G325A ZBTB20_uc003ebj.2_Missense_Mutation_p.G252A|ZBTB20_uc010hqp.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebk.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebl.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebm.2_Missense_Mutation_p.G252A|ZBTB20_uc003ebn.2_Missense_Mutation_p.G252A|uc003ebo.1_5'Flank NM_015642 NP_056457 Q9HC78 ZBT20_HUMAN zinc finger and BTB domain containing 20 isoform 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191) GTGGATGTTGCCCACTAGGGT 0.612 45 149 --- --- --- --- PASS C3orf15 89876 broad.mit.edu 37 3 119459492 119459492 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:119459492A>C uc003ede.3 + 13 1707 c.1630A>C c.(1630-1632)AAG>CAG p.K544Q C3orf15_uc010hqy.1_Missense_Mutation_p.K544Q|C3orf15_uc010hqz.2_Missense_Mutation_p.K482Q|C3orf15_uc011bjd.1_Missense_Mutation_p.K418Q|C3orf15_uc011bje.1_Missense_Mutation_p.K524Q|C3orf15_uc010hra.1_Missense_Mutation_p.K305Q NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 380 Potential. mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) AAAAGCCGAGAAGCAAGTGAC 0.443 17 36 --- --- --- --- PASS STXBP5L 9515 broad.mit.edu 37 3 121126218 121126218 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:121126218A>G uc003eec.3 + 24 2928 c.2788A>G c.(2788-2790)AGA>GGA p.R930G STXBP5L_uc011bji.1_Missense_Mutation_p.R906G NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 930 WD 12. exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane ovary(7)|skin(2) 9 GBM - Glioblastoma multiforme(114;0.0694) AAAATCTTGGAGAAGGAAAGT 0.393 21 55 --- --- --- --- PASS POLQ 10721 broad.mit.edu 37 3 121228452 121228452 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:121228452T>G uc003eee.3 - 12 2044 c.1915A>C c.(1915-1917)ATG>CTG p.M639L NM_199420 NP_955452 O75417 DPOLQ_HUMAN DNA polymerase theta 639 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1) 11 GBM - Glioblastoma multiforme(114;0.0915) AAGCCCTTCATTGCTCTTTGC 0.348 DNA_polymerases_(catalytic_subunits) 28 90 --- --- --- --- PASS GOLGB1 2804 broad.mit.edu 37 3 121448165 121448165 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:121448165T>G uc003eei.3 - 4 398 c.272A>C c.(271-273)AAC>ACC p.N91T GOLGB1_uc010hrc.2_Missense_Mutation_p.N91T|GOLGB1_uc003eej.3_Missense_Mutation_p.N52T|GOLGB1_uc011bjm.1_Missense_Mutation_p.N52T|GOLGB1_uc010hrd.1_Missense_Mutation_p.N91T NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 91 Potential.|Cytoplasmic (Potential). Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TTTAATTTTGTTATCAGCAGC 0.318 30 101 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 121980410 121980410 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:121980410C>T uc003eev.3 + 4 900 c.528C>T c.(526-528)AAC>AAT p.N176N CASR_uc003eew.3_Silent_p.N176N NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 176 Extracellular (Potential). anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCCTCAGCAACAAGAATCAAT 0.463 34 197 --- --- --- --- PASS ZNF148 7707 broad.mit.edu 37 3 124953165 124953165 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:124953165G>C uc003ehx.3 - 8 1162 c.676C>G c.(676-678)CCA>GCA p.P226A SLC12A8_uc003ehw.3_Intron|ZNF148_uc003ehz.3_Missense_Mutation_p.P226A|ZNF148_uc010hsa.2_Missense_Mutation_p.P226A|ZNF148_uc003eia.3_Missense_Mutation_p.P226A|ZNF148_uc003ehy.2_Missense_Mutation_p.P21A NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN zinc finger protein 148 226 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding skin(2)|ovary(1)|pancreas(1) 4 CAGCGAAATGGTTTTTCACCT 0.299 52 116 --- --- --- --- PASS CNBP 7555 broad.mit.edu 37 3 128890383 128890383 + Splice_Site SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:128890383T>C uc003elq.3 - 3 331 c.125_splice c.e3-1 p.G42_splice CNBP_uc003elr.3_Splice_Site_p.G35_splice|CNBP_uc011bku.1_Intron NM_003418 NP_003409 P62633 CNBP_HUMAN zinc finger protein 9 isoform 3 cholesterol biosynthetic process endoplasmic reticulum DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ACTGGAAACCTGTTTTGAGCA 0.393 22 53 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134967229 134967229 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:134967229C>A uc003eqt.2 + 14 2788 c.2568C>A c.(2566-2568)CTC>CTA p.L856L EPHB1_uc003equ.2_Silent_p.L417L NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 856 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 TACACCAGCTCATGCTGGACT 0.572 37 60 --- --- --- --- PASS ARMC8 25852 broad.mit.edu 37 3 137907372 137907372 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:137907372G>A uc003esa.1 + 2 370 c.3G>A c.(1-3)ATG>ATA p.M1I ARMC8_uc003erw.2_Missense_Mutation_p.M1I|ARMC8_uc003erx.2_Missense_Mutation_p.M1I|ARMC8_uc003ery.2_5'UTR|ARMC8_uc003erz.2_Intron|ARMC8_uc011bmf.1_Intron|ARMC8_uc011bmg.1_Intron|ARMC8_uc011bmh.1_Intron|ARMC8_uc003esb.1_5'UTR NM_015396 NP_056211 Q8IUR7 ARMC8_HUMAN armadillo repeat containing 8 isoform 2 Error:Variant_position_missing_in_Q8IUR7_after_alignment binding 0 ctctgagaatggtcagtttac 0.030 37 99 --- --- --- --- PASS CHST2 9435 broad.mit.edu 37 3 142840794 142840794 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:142840794A>G uc003evm.2 + 2 2025 c.1136A>G c.(1135-1137)AAG>AGG p.K379R NM_004267 NP_004258 Q9Y4C5 CHST2_HUMAN carbohydrate (N-acetylglucosamine-6-O) 379 Lumenal (Potential). inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process integral to membrane|intrinsic to Golgi membrane|trans-Golgi network N-acetylglucosamine 6-O-sulfotransferase activity ovary(3) 3 CTTGGCGCCAAGAAGGAGGGC 0.662 19 61 --- --- --- --- PASS SERP1 27230 broad.mit.edu 37 3 150263884 150263884 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:150263884C>A uc003exy.2 - 1 545 c.39G>T c.(37-39)AAG>AAT p.K13N SERP1_uc003exz.2_RNA|EIF2A_uc003eya.2_5'Flank|EIF2A_uc003eyb.2_5'Flank|EIF2A_uc003eyc.2_5'Flank|EIF2A_uc011bnv.1_5'Flank|EIF2A_uc011bnw.1_5'Flank NM_014445 NP_055260 Q9Y6X1 SERP1_HUMAN stress-associated endoplasmic reticulum protein 13 Cytoplasmic (Potential). plasma membrane organization|protein glycosylation|protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane|ribosome 0 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCTTGCTGTGCTTCTCGTTGG 0.662 36 92 --- --- --- --- PASS PLCH1 23007 broad.mit.edu 37 3 155232542 155232542 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:155232542C>A uc011bok.1 - 11 1843 c.1566G>T c.(1564-1566)ACG>ACT p.T522T PLCH1_uc011boj.1_Silent_p.T522T|PLCH1_uc011bol.1_Silent_p.T504T NM_001130960 NP_001124432 Q4KWH8 PLCH1_HUMAN phospholipase C eta 1 isoform a 522 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity skin(3)|ovary(1) 4 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AGCCTTCATGCGTGGCCTTCA 0.388 49 76 --- --- --- --- PASS SI 6476 broad.mit.edu 37 3 164764764 164764764 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:164764764G>C uc003fei.2 - 16 1814 c.1752C>G c.(1750-1752)TTC>TTG p.F584L NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 584 Lumenal.|Isomaltase. F -> L (in Ref. 3; AAI15035). carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGGTAAGAATGAAGCTTCTCT 0.323 HNSCC(35;0.089) 10 62 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165547903 165547903 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:165547903C>T uc003fem.3 - 2 1079 c.919G>A c.(919-921)GTT>ATT p.V307I BCHE_uc003fen.3_Intron NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 307 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TAGGGGACAACAAATGCTTCA 0.393 19 72 --- --- --- --- PASS PIK3CA 5290 broad.mit.edu 37 3 178936099 178936099 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:178936099G>C uc003fjk.2 + 10 1798 c.1641G>C c.(1639-1641)GAG>GAC p.E547D NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 547 PI3K helical. 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.E547K(1) 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) CTGAGCAGGAGAAAGATTTTC 0.363 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 39 63 --- --- --- --- PASS CPN2 1370 broad.mit.edu 37 3 194062093 194062093 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr3:194062093C>T uc003fts.2 - 2 1429 c.1339G>A c.(1339-1341)GTC>ATC p.V447I NM_001080513 NP_001073982 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 447 LRRCT. protein stabilization extracellular region enzyme regulator activity ovary(5) 5 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) TCCCGGGTGACGGGACACACC 0.647 16 110 --- --- --- --- PASS HTRA3 94031 broad.mit.edu 37 4 8294050 8294050 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:8294050C>A uc003gla.2 + 5 1110 c.906C>A c.(904-906)TAC>TAA p.Y302* HTRA3_uc003gkz.2_Nonsense_Mutation_p.Y302* NM_053044 NP_444272 P83110 HTRA3_HUMAN HtrA serine peptidase 3 precursor 302 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity ovary(1) 1 CCTTGCAGTACGGGAACTCCG 0.572 5 61 --- --- --- --- PASS CPZ 8532 broad.mit.edu 37 4 8621111 8621111 + Missense_Mutation SNP C T T rs147183461 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:8621111C>T uc003glm.2 + 11 1852 c.1726C>T c.(1726-1728)CGT>TGT p.R576C CPZ_uc003gll.2_RNA|CPZ_uc003gln.2_Missense_Mutation_p.R439C|CPZ_uc003glo.2_Missense_Mutation_p.R565C|CPZ_uc003glp.2_RNA NM_001014447 NP_001014447 Q66K79 CBPZ_HUMAN carboxypeptidase Z isoform 1 576 proteolysis|Wnt receptor signaling pathway proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2)|pancreas(1) 3 GAGGGCTGGCCGTGTGGACTT 0.592 21 26 --- --- --- --- PASS C1QTNF7 114905 broad.mit.edu 37 4 15443952 15443952 + Silent SNP G C C rs150846082 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:15443952G>C uc011bxb.1 + 3 626 c.399G>C c.(397-399)CCG>CCC p.P133P C1QTNF7_uc003gno.2_Silent_p.P140P|C1QTNF7_uc003gnp.2_Silent_p.P133P NM_001135171 NP_001128643 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 133 Collagen-like. collagen 0 AAGGGGACCCGGGGCTGCCTG 0.517 89 126 --- --- --- --- PASS LDB2 9079 broad.mit.edu 37 4 16597389 16597389 + Silent SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:16597389G>C uc003goz.2 - 3 661 c.345C>G c.(343-345)TCC>TCG p.S115S LDB2_uc003gpa.2_Silent_p.S115S|LDB2_uc003gpb.2_Silent_p.S115S|LDB2_uc011bxh.1_Silent_p.S115S|LDB2_uc010iee.2_Silent_p.S115S|LDB2_uc003goy.2_5'UTR|LDB2_uc011bxi.1_5'UTR NM_001290 NP_001281 O43679 LDB2_HUMAN LIM domain binding 2 isoform a 115 LIM domain binding|transcription cofactor activity 0 CCACCGTGATGGATGAGTTGT 0.527 13 98 --- --- --- --- PASS PGM2 55276 broad.mit.edu 37 4 37831659 37831659 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:37831659G>C uc011byb.1 + 2 228 c.155G>C c.(154-156)GGG>GCG p.G52A PGM2_uc011bya.1_5'UTR|PGM2_uc011byc.1_5'UTR NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 52 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 AAATGTTTTGGGGCCCGAATG 0.433 23 30 --- --- --- --- PASS KLHL5 51088 broad.mit.edu 37 4 39082828 39082828 + Silent SNP G A A rs143433133 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:39082828G>A uc003gts.2 + 3 885 c.810G>A c.(808-810)TCG>TCA p.S270S KLHL5_uc003gtp.2_Silent_p.S224S|KLHL5_uc003gtq.2_Silent_p.S83S|KLHL5_uc003gtr.1_Silent_p.S270S|KLHL5_uc003gtt.2_Silent_p.S209S NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN kelch-like 5 isoform 1 270 BTB. cytoplasm|cytoskeleton actin binding ovary(1) 1 AACCAAATTCGTTGTGGTCCT 0.353 26 27 --- --- --- --- PASS KLB 152831 broad.mit.edu 37 4 39436041 39436041 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:39436041A>T uc003gua.2 + 2 1134 c.1037A>T c.(1036-1038)AAG>ATG p.K346M KLB_uc011byj.1_Missense_Mutation_p.K346M NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN klotho beta 346 Extracellular (Potential).|Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds skin(1) 1 GGGATGAGAAAGAAGTTGTTC 0.448 44 42 --- --- --- --- PASS ATP10D 57205 broad.mit.edu 37 4 47570958 47570958 + Silent SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:47570958T>G uc003gxk.1 + 16 3122 c.2958T>G c.(2956-2958)CCT>CCG p.P986P ATP10D_uc003gxl.1_Silent_p.P234P NM_020453 NP_065186 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 986 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 TTCAGCCTCCTGTCCCCCGGG 0.488 57 40 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 4 69342005 69342005 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:69342005C>G uc003hdz.3 + 7 620 c.556C>G c.(556-558)CTA>GTA p.L186V NM_014058 NP_054777 transmembrane protease, serine 11E AAGTAAAACTCTAGGTCAGAG 0.517 82 90 --- --- --- --- PASS ENAM 10117 broad.mit.edu 37 4 71509533 71509533 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:71509533C>A uc011caw.1 + 9 2671 c.2390C>A c.(2389-2391)CCA>CAA p.P797Q NM_031889 NP_114095 Q9NRM1 ENAM_HUMAN enamelin precursor 797 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel ovary(3) 3 Lung(101;0.235) CAAAAAGCCCCAGCTAGGCCA 0.463 26 34 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123175391 123175391 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:123175391T>C uc003ieh.2 + 36 6009 c.5964T>C c.(5962-5964)CCT>CCC p.P1988P KIAA1109_uc003iel.1_5'Flank|KIAA1109_uc003iek.2_Silent_p.P607P NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1988 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 AAGATCTACCTCTGATGCCTC 0.378 3 66 --- --- --- --- PASS RAB33B 83452 broad.mit.edu 37 4 140393857 140393857 + Silent SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:140393857A>T uc003ihv.2 + 2 656 c.267A>T c.(265-267)ACA>ACT p.T89T NM_031296 NP_112586 Q9H082 RB33B_HUMAN RAB33B, member RAS oncogene family 89 GTP (By similarity). protein transport|small GTPase mediated signal transduction Golgi membrane GTP binding 0 all_hematologic(180;0.162) TATGGGACACAGCAGGACAAG 0.378 7 55 --- --- --- --- PASS HHIP 64399 broad.mit.edu 37 4 145567964 145567964 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:145567964A>G uc003ijs.1 + 1 792 c.137A>G c.(136-138)AAG>AGG p.K46R uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.K46R NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 46 Arg-rich. cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) AACCCCCCGAAGCGCCTGAAA 0.592 24 42 --- --- --- --- PASS GUCY1B3 2983 broad.mit.edu 37 4 156721210 156721210 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:156721210A>C uc003ipc.2 + 9 1326 c.1159A>C c.(1159-1161)AAG>CAG p.K387Q GUCY1B3_uc011cio.1_Missense_Mutation_p.K409Q|GUCY1B3_uc011cip.1_Missense_Mutation_p.K367Q|GUCY1B3_uc003ipd.2_Missense_Mutation_p.K315Q|GUCY1B3_uc010iqf.2_Missense_Mutation_p.K387Q|GUCY1B3_uc010iqg.2_Missense_Mutation_p.K315Q|GUCY1B3_uc011ciq.1_Missense_Mutation_p.K315Q NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 387 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) GGAAGATGAAAAGAAAAAGAC 0.383 7 41 --- --- --- --- PASS WDR17 116966 broad.mit.edu 37 4 177072999 177072999 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:177072999A>G uc003iuj.2 + 18 2569 c.2413A>G c.(2413-2415)AAA>GAA p.K805E WDR17_uc003iuk.2_Missense_Mutation_p.K781E|WDR17_uc003ium.3_Missense_Mutation_p.K781E|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.K24E NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 805 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) CAAGATGTCTAAATTTGGTGG 0.333 16 40 --- --- --- --- PASS ENPP6 133121 broad.mit.edu 37 4 185038118 185038118 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:185038118A>G uc003iwc.2 - 5 888 c.746T>C c.(745-747)ATG>ACG p.M249T NM_153343 NP_699174 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 249 Extracellular (Potential). lipid catabolic process extracellular region|integral to membrane|plasma membrane central_nervous_system(1) 1 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) CACTTTGTCCATCCAGAAAAT 0.542 17 54 --- --- --- --- PASS FAT1 2195 broad.mit.edu 37 4 187541653 187541653 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:187541653T>C uc003izf.2 - 10 6275 c.6087A>G c.(6085-6087)TCA>TCG p.S2029S NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2029 Extracellular (Potential).|Cadherin 18. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 ACAGAACTCCTGAAGTGCGGC 0.463 HNSCC(5;0.00058) 63 192 --- --- --- --- PASS NKD2 85409 broad.mit.edu 37 5 1034432 1034432 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:1034432A>G uc003jbt.1 + 6 418 c.413A>G c.(412-414)AAG>AGG p.K138R NKD2_uc010itf.1_Missense_Mutation_p.K138R NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 138 Targeting to the basolateral cell membrane.|EF-hand.|Potential.|Interaction with DVL1, DVL2 and DVL3 (By similarity). exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) AACTGCGGGAAGGTCACCAGG 0.617 20 61 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13866338 13866338 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:13866338G>A uc003jfd.2 - 26 4149 c.4107C>T c.(4105-4107)ATC>ATT p.I1369I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1369 Stem (By similarity). 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) CCTGAAACATGATAAGCCTGT 0.353 Kartagener_syndrome 11 100 --- --- --- --- PASS RAI14 26064 broad.mit.edu 37 5 34813695 34813695 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:34813695A>T uc003jir.2 + 11 978 c.782A>T c.(781-783)AAA>ATA p.K261I RAI14_uc010iur.2_Intron|RAI14_uc011coj.1_Missense_Mutation_p.K261I|RAI14_uc010ius.1_Missense_Mutation_p.K190I|RAI14_uc003jis.2_Missense_Mutation_p.K264I|RAI14_uc003jit.2_Missense_Mutation_p.K261I|RAI14_uc011cok.1_Missense_Mutation_p.K253I NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 261 cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CAAGTCTCTAAAATAAGCTCA 0.403 20 69 --- --- --- --- PASS DAB2 1601 broad.mit.edu 37 5 39390671 39390671 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:39390671C>T uc003jlx.2 - 5 868 c.337G>A c.(337-339)GAG>AAG p.E113K DAB2_uc003jlw.2_Missense_Mutation_p.E113K NM_001343 NP_001334 P98082 DAB2_HUMAN disabled homolog 2 113 PID. cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding kidney(2)|skin(1) 3 all_lung(31;0.000197) Epithelial(62;0.137) TGTTCATGCTCTATTACCTTA 0.393 45 48 --- --- --- --- PASS HCN1 348980 broad.mit.edu 37 5 45262720 45262720 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:45262720C>A uc003jok.2 - 8 2001 c.1976G>T c.(1975-1977)CGC>CTC p.R659L NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 659 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 TGTCCTCATGCGGGAGGTCGG 0.567 74 76 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82808109 82808109 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:82808109G>T uc003kii.3 + 6 1292 c.936G>T c.(934-936)AGG>AGT p.R312S VCAN_uc003kij.3_Missense_Mutation_p.R312S|VCAN_uc010jau.2_Missense_Mutation_p.R312S|VCAN_uc003kik.3_Missense_Mutation_p.R312S|VCAN_uc003kih.3_Missense_Mutation_p.R312S NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 312 Link 2. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTGTGGCCAGGGCCCAGTGTG 0.597 20 16 --- --- --- --- PASS EDIL3 10085 broad.mit.edu 37 5 83360526 83360526 + Missense_Mutation SNP T A A rs143816596 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:83360526T>A uc003kio.1 - 8 1364 c.945A>T c.(943-945)GAA>GAT p.E315D EDIL3_uc003kip.1_Missense_Mutation_p.E305D|EDIL3_uc011ctt.1_Missense_Mutation_p.E92D NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 315 cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) TACCCGACAGTTCACAGCCAA 0.368 16 27 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90016835 90016835 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:90016835G>A uc003kju.2 + 45 9803 c.9707G>A c.(9706-9708)AGT>AAT p.S3236N GPR98_uc003kjt.2_Missense_Mutation_p.S942N|GPR98_uc003kjv.2_Missense_Mutation_p.S836N NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 3236 Extracellular (Potential).|EAR 1. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGCTGTGAGTGTGCAGTGG 0.383 27 84 --- --- --- --- PASS ELL2 22936 broad.mit.edu 37 5 95224661 95224661 + Nonsense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:95224661T>A uc003klr.3 - 12 2187 c.1837A>T c.(1837-1839)AGA>TGA p.R613* NM_012081 NP_036213 O00472 ELL2_HUMAN elongation factor, RNA polymerase II, 2 613 regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter transcription elongation factor complex central_nervous_system(1) 1 all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198) all cancers(79;2.16e-15) TATTCACATCTGTATTTTTCT 0.368 24 22 --- --- --- --- PASS EPB41L4A 64097 broad.mit.edu 37 5 111594984 111594984 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:111594984C>A uc003kpv.1 - 9 1011 c.737G>T c.(736-738)CGG>CTG p.R246L NM_022140 NP_071423 Q9HCS5 E41LA_HUMAN erythrocyte protein band 4.1-like 4 246 FERM. cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding ovary(1) 1 all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135) OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791) CTTTGTAATCCGAGGCCTAAA 0.393 37 44 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112174043 112174043 + Nonsense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:112174043G>T uc010jby.2 + 16 3132 c.2752G>T c.(2752-2754)GAG>TAG p.E918* APC_uc011cvt.1_Nonsense_Mutation_p.E900*|APC_uc003kpz.3_Nonsense_Mutation_p.E918*|APC_uc003kpy.3_Nonsense_Mutation_p.E918*|APC_uc010jbz.2_Nonsense_Mutation_p.E635*|APC_uc010jca.2_Nonsense_Mutation_p.E218* NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 918 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.E918*(1)|p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) TGTGACAGATGAGAGAAATGC 0.413 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 24 31 --- --- --- --- PASS APC 324 broad.mit.edu 37 5 112177057 112177057 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:112177057G>T uc010jby.2 + 16 6146 c.5766G>T c.(5764-5766)CAG>CAT p.Q1922H APC_uc011cvt.1_Missense_Mutation_p.Q1904H|APC_uc003kpz.3_Missense_Mutation_p.Q1922H|APC_uc003kpy.3_Missense_Mutation_p.Q1922H|APC_uc010jbz.2_Missense_Mutation_p.Q1639H|APC_uc010jca.2_Missense_Mutation_p.Q1222H NM_001127511 NP_001120983 P25054 APC_HUMAN adenomatous polyposis coli 1922 Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.?(1) large_intestine(2123)|stomach(123)|soft_tissue(55)|small_intestine(34)|breast(26)|pancreas(25)|urinary_tract(20)|lung(19)|thyroid(18)|liver(13)|central_nervous_system(10)|ovary(9)|skin(7)|upper_aerodigestive_tract(6)|adrenal_gland(6)|bone(6)|NS(5)|prostate(4)|endometrium(3)|kidney(1)|oesophagus(1)|biliary_tract(1) 2515 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) ATCGAGGTCAGCCTAAACCCA 0.423 12 D|Mis|N|F|S colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS colorectal|pancreatic|desmoid|hepatoblastoma|glioma|other CNS Hereditary_Desmoid_Disease|Familial_Adenomatous_Polyposis|Turcot_syndrome TSP Lung(16;0.13) 19 22 --- --- --- --- PASS ADAMTS19 171019 broad.mit.edu 37 5 128863463 128863463 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:128863463A>G uc003kvb.1 + 5 1091 c.1091A>G c.(1090-1092)AAG>AGG p.K364R ADAMTS19_uc003kvc.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 364 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) TTCCAACACAAGAGTCTGAGT 0.318 16 98 --- --- --- --- PASS FSTL4 23105 broad.mit.edu 37 5 132556550 132556550 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:132556550C>T uc003kyn.1 - 12 1566 c.1348G>A c.(1348-1350)GTG>ATG p.V450M FSTL4_uc003kym.1_Missense_Mutation_p.V99M NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 450 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTTTCCCACGCTGAGGCCT 0.552 10 47 --- --- --- --- PASS PSD2 84249 broad.mit.edu 37 5 139189275 139189275 + Missense_Mutation SNP G T T rs148759979 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:139189275G>T uc003leu.1 + 2 455 c.250G>T c.(250-252)GGG>TGG p.G84W NM_032289 NP_115665 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 84 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTAGCCCTGGGGCCAGACTT 0.622 76 48 --- --- --- --- PASS ARHGEF37 389337 broad.mit.edu 37 5 149001624 149001624 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:149001624A>C uc003lra.1 + 9 1398 c.1334A>C c.(1333-1335)CAG>CCG p.Q445P NM_001001669 NP_001001669 A1IGU5 ARH37_HUMAN hypothetical protein LOC389337 445 BAR. regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity 0 AGCATGGCCCAGGTAAGGCCT 0.607 6 6 --- --- --- --- PASS LARP1 23367 broad.mit.edu 37 5 154169899 154169899 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:154169899G>A uc003lvp.2 + 2 880 c.451G>A c.(451-453)GCC>ACC p.A151T LARP1_uc003lvo.2_Missense_Mutation_p.A74T|LARP1_uc010jie.1_5'UTR NM_033551 NP_291029 Q6PKG0 LARP1_HUMAN la related protein isoform 2 151 protein binding|RNA binding ovary(2)|pancreas(1)|skin(1) 4 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTCTGCTCCAGCCAAGGTGGT 0.552 7 53 --- --- --- --- PASS EBF1 1879 broad.mit.edu 37 5 158135176 158135176 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:158135176G>T uc010jip.2 - 15 1857 c.1555C>A c.(1555-1557)CCA>ACA p.P519T EBF1_uc011ddw.1_Missense_Mutation_p.P387T|EBF1_uc011ddx.1_Missense_Mutation_p.P520T|EBF1_uc003lxl.3_Missense_Mutation_p.P488T NM_024007 NP_076870 Q9UH73 COE1_HUMAN early B-cell factor 519 Pro/Ser/Thr-rich. multicellular organismal development nucleus DNA binding|metal ion binding HMGA2/EBF1(2) soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GGGCTGGATGGCACTACTGAG 0.567 T HMGA2 lipoma 5 5 --- --- --- --- PASS RANBP17 64901 broad.mit.edu 37 5 170725835 170725835 + Silent SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:170725835A>G uc003mba.2 + 28 3256 c.3240A>G c.(3238-3240)GAA>GAG p.E1080E RANBP17_uc003mbb.2_Silent_p.E405E|RANBP17_uc010jjs.2_RNA NM_022897 NP_075048 Q9H2T7 RBP17_HUMAN RAN binding protein 17 1080 mRNA transport|protein import into nucleus|transmembrane transport cytoplasm|nuclear pore GTP binding|protein transporter activity ovary(2)|central_nervous_system(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GCAACACTGAACCATGCAGTC 0.507 T TRD@ ALL 23 33 --- --- --- --- PASS DOK3 79930 broad.mit.edu 37 5 176931447 176931447 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:176931447A>C uc003mhk.2 - 6 1033 c.1028T>G c.(1027-1029)ATG>AGG p.M343R DOK3_uc003mhh.3_Intron|DOK3_uc003mhi.3_Intron|DOK3_uc003mhj.3_Intron|DOK3_uc003mhl.2_Missense_Mutation_p.M287R NM_024872 NP_079148 Q7L591 DOK3_HUMAN docking protein 3 isoform 1 343 Pro-rich. cytoplasm|plasma membrane insulin receptor binding 0 all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191) TCCTGGTGGCATCTCCCGAAG 0.706 17 16 --- --- --- --- PASS IRF4 3662 broad.mit.edu 37 6 398903 398903 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:398903G>T uc003msz.3 + 6 826 c.713G>T c.(712-714)AGC>ATC p.S238I IRF4_uc010jne.1_Missense_Mutation_p.S238I|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.S237I|IRF4_uc003mtc.1_Missense_Mutation_p.S68I NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 238 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) ACAGAGCCAAGCATAAGGTCT 0.562 T IGH@ MM 19 21 --- --- --- --- PASS MYLK4 340156 broad.mit.edu 37 6 2680468 2680468 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:2680468C>A uc003mty.3 - 8 1042 c.745G>T c.(745-747)GGA>TGA p.G249* MYLK4_uc003mtx.3_5'Flank NM_001012418 NP_001012418 Q86YV6 MYLK4_HUMAN myosin light chain kinase family, member 4 249 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(3)|ovary(1) 4 Ovarian(93;0.0412) all_hematologic(90;0.0897) CTGGCCAATCCAAAATCAATA 0.418 34 327 --- --- --- --- PASS NRSN1 140767 broad.mit.edu 37 6 24134684 24134684 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:24134684G>T uc010jpq.1 + 3 366 c.129G>T c.(127-129)GAG>GAT p.E43D NM_080723 NP_542454 Q8IZ57 NRSN1_HUMAN neurensin 1 43 nervous system development growth cone|integral to membrane|neuronal cell body|transport vesicle 0 CAATTTGGGAGTATGAGGATG 0.493 19 43 --- --- --- --- PASS HIST1H2AC 8334 broad.mit.edu 37 6 26124828 26124828 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:26124828G>C uc003ngm.2 + 1 456 c.368G>C c.(367-369)AGT>ACT p.S123T HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.S123T NM_003512 NP_003503 Q93077 H2A1C_HUMAN histone cluster 1, H2ac 123 nucleosome assembly nucleosome|nucleus DNA binding 0 AAGACCGAGAGTCACCACAAG 0.547 24 103 --- --- --- --- PASS HIST1H3D 8351 broad.mit.edu 37 6 26197191 26197191 + Silent SNP G T T rs138527852 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:26197191G>T uc003ngv.2 - 2 685 c.288C>A c.(286-288)GCC>GCA p.A96A HIST1H2BF_uc003ngx.2_5'Flank NM_003530 NP_003521 P68431 H31_HUMAN histone cluster 1, H3d 96 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding 0 all_hematologic(11;0.196) AGGCCTCGCAGGCCTCCTGCA 0.587 11 112 --- --- --- --- PASS BTN2A3 54718 broad.mit.edu 37 6 26423264 26423264 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:26423264G>T uc011dkl.1 + 2 213 c.183G>T c.(181-183)ATG>ATT p.M61I BTN2A3_uc011dkm.1_RNA RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor; 0 CTGAGGACATGGAGGTGCGGT 0.547 36 69 --- --- --- --- PASS OR2J2 26707 broad.mit.edu 37 6 29141839 29141839 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:29141839C>A uc011dlm.1 + 1 529 c.427C>A c.(427-429)CAC>AAC p.H143N NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCGTTTCTGCCACTTGTTGGT 0.463 158 343 --- --- --- --- PASS TNXB 7148 broad.mit.edu 37 6 32036726 32036726 + Silent SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:32036726G>C uc003nzl.2 - 16 5977 c.5775C>G c.(5773-5775)GTC>GTG p.V1925V NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 2007 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 CTCCTATGCGGACCATTTGGA 0.527 14 144 --- --- --- --- PASS TFEB 7942 broad.mit.edu 37 6 41653913 41653913 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:41653913T>C uc003oqs.1 - 9 1168 c.866A>G c.(865-867)CAG>CGG p.Q289R TFEB_uc003oqt.1_Missense_Mutation_p.Q289R|TFEB_uc003oqu.1_Missense_Mutation_p.Q303R|TFEB_uc003oqr.1_Missense_Mutation_p.Q204R NM_007162 NP_009093 P19484 TFEB_HUMAN transcription factor EB 289 Helix-loop-helix motif. embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ovary(1) 1 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) CAGGTCCTTCTGCATCCTCCG 0.582 T ALPHA renal (childhood epithelioid) 48 63 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43227316 43227316 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:43227316C>A uc003ouq.1 + 12 1575 c.1296C>A c.(1294-1296)AGC>AGA p.S432R NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 432 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GGGTCCCCAGCTCCCCAGTGC 0.682 4 26 --- --- --- --- PASS CAPN11 11131 broad.mit.edu 37 6 44137691 44137691 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:44137691G>C uc003owt.1 + 4 426 c.388G>C c.(388-390)GAC>CAC p.D130H NM_007058 NP_008989 Q9UMQ6 CAN11_HUMAN calpain 11 130 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity ovary(1)|breast(1) 2 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TTCTCCAACAGACATCTGCCA 0.562 9 17 --- --- --- --- PASS GPR115 221393 broad.mit.edu 37 6 47682358 47682358 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:47682358A>G uc003oza.1 + 6 1635 c.1377A>G c.(1375-1377)ATA>ATG p.I459M GPR115_uc003oyz.1_Missense_Mutation_p.I516M|GPR115_uc003ozb.1_Missense_Mutation_p.I457M NM_153838 NP_722580 Q8IZF3 GP115_HUMAN G-protein coupled receptor 115 precursor 459 Helical; Name=2; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|skin(3)|upper_aerodigestive_tract(1)|breast(1) 8 GGTTTATCATAGGCTCTCACT 0.458 9 234 --- --- --- --- PASS C6orf138 442213 broad.mit.edu 37 6 47847436 47847436 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:47847436T>C uc011dwm.1 - 3 1178 c.1093A>G c.(1093-1095)ATT>GTT p.I365V C6orf138_uc011dwn.1_Missense_Mutation_p.I129V NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 382 Helical; (Potential).|SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 AAGGAGAAAATGTAGAAGTAG 0.453 5 38 --- --- --- --- PASS MUT 4594 broad.mit.edu 37 6 49421411 49421411 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:49421411C>T uc003ozg.3 - 5 1225 c.970G>A c.(970-972)GCT>ACT p.A324T NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 324 A -> T (in MMAM; mut-). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTCTACCAGCTCTCATCTTT 0.363 20 78 --- --- --- --- PASS GSTA2 2939 broad.mit.edu 37 6 52616444 52616444 + Missense_Mutation SNP G T T rs140075572 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:52616444G>T uc003pay.2 - 6 627 c.477C>A c.(475-477)CAC>CAA p.H159Q NM_000846 NP_000837 P09210 GSTA2_HUMAN glutathione S-transferase alpha 2 159 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163) GTTCCACCAGGTGAATGTCAG 0.512 29 134 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57472362 57472362 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:57472362G>A uc003pdx.2 + 13 1238 c.1151G>A c.(1150-1152)TGC>TAC p.C384Y NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 384 Iron-sulfur (4Fe-4S). DNA replication, synthesis of RNA primer|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|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) TTGTCAGGGTGCCCATTCCGT 0.443 6 76 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 69653721 69653721 + Splice_Site SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:69653721G>C uc003pev.3 + 6 1479 c.1031_splice c.e6-1 p.V344_splice BAI3_uc010kak.2_Splice_Site_p.V344_splice NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) CTTTATTACAGTACACGGAGT 0.363 19 86 --- --- --- --- PASS COL9A1 1297 broad.mit.edu 37 6 71004114 71004114 + Missense_Mutation SNP T A A rs149389568 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:71004114T>A uc003pfg.3 - 5 611 c.452A>T c.(451-453)CAA>CTA p.Q151L NM_001851 NP_001842 P20849 CO9A1_HUMAN alpha 1 type IX collagen isoform 1 precursor 151 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding ovary(4) 4 TACAACAGATTGTGTTTGGCC 0.428 70 90 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 73102433 73102433 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:73102433C>G uc003pga.2 + 31 4616 c.4539C>G c.(4537-4539)GAC>GAG p.D1513E RIMS1_uc011dyb.1_Missense_Mutation_p.D910E|RIMS1_uc003pgc.2_Missense_Mutation_p.D962E|RIMS1_uc010kaq.2_Missense_Mutation_p.D833E|RIMS1_uc011dyc.1_Missense_Mutation_p.D638E|RIMS1_uc010kar.2_Missense_Mutation_p.D581E|RIMS1_uc011dyd.1_Missense_Mutation_p.D647E|RIMS1_uc003pgf.2_Missense_Mutation_p.D513E|RIMS1_uc003pgg.2_Missense_Mutation_p.D409E|RIMS1_uc003pgi.2_Missense_Mutation_p.D329E|RIMS1_uc003pgh.2_Missense_Mutation_p.D380E|RIMS1_uc003pgd.2_Missense_Mutation_p.D579E|RIMS1_uc003pge.2_Missense_Mutation_p.D553E|RIMS1_uc011dye.1_Missense_Mutation_p.D319E|RIMS1_uc011dyf.1_Missense_Mutation_p.D137E|RIMS1_uc011dyg.1_Missense_Mutation_p.D40E NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1513 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) TGGGAGCTGACAGTCAATTCA 0.413 40 87 --- --- --- --- PASS KCNQ5 56479 broad.mit.edu 37 6 73843173 73843173 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:73843173G>A uc003pgk.2 + 10 1624 c.1277G>A c.(1276-1278)CGC>CAC p.R426H KCNQ5_uc011dyh.1_Missense_Mutation_p.R445H|KCNQ5_uc011dyi.1_Missense_Mutation_p.R436H|KCNQ5_uc010kat.2_Missense_Mutation_p.R417H|KCNQ5_uc011dyj.1_Intron|KCNQ5_uc011dyk.1_Missense_Mutation_p.R176H NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 426 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) GAGCGAGTGCGCATGGCTAGC 0.512 11 56 --- --- --- --- PASS COL12A1 1303 broad.mit.edu 37 6 75893688 75893688 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:75893688A>T uc003phs.2 - 9 1336 c.1170T>A c.(1168-1170)AGT>AGA p.S390R COL12A1_uc003pht.2_Intron|COL12A1_uc003phu.1_Missense_Mutation_p.S48R NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 390 Fibronectin type-III 2. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GGTCGCGAACACTGAGCGTGG 0.522 24 112 --- --- --- --- PASS KIAA1009 22832 broad.mit.edu 37 6 84910621 84910621 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:84910621C>A uc010kbp.2 - 9 818 c.721G>T c.(721-723)GTG>TTG p.V241L KIAA1009_uc003pkj.3_Missense_Mutation_p.V165L|KIAA1009_uc003pkk.2_Missense_Mutation_p.V241L NM_014895 NP_055710 Q5TB80 QN1_HUMAN KIAA1009 protein 241 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding ovary(1) 1 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TCAAGCAGCACAACTGGAAGA 0.323 55 89 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85457787 85457787 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:85457787G>T uc003pkl.1 - 5 790 c.790C>A c.(790-792)CAC>AAC p.H264N TBX18_uc010kbq.1_Missense_Mutation_p.H106N NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 264 T-box. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TGGTATTTGTGCATAGAATGA 0.428 10 47 --- --- --- --- PASS TBX18 9096 broad.mit.edu 37 6 85472268 85472268 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:85472268G>T uc003pkl.1 - 2 491 c.491C>A c.(490-492)GCC>GAC p.A164D TBX18_uc010kbq.1_Missense_Mutation_p.A6D NM_001080508 NP_001073977 O95935 TBX18_HUMAN T-box 18 164 T-box. multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|pancreas(2)|lung(1) 5 all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858) BRCA - Breast invasive adenocarcinoma(108;0.0267) TTACCTGCCGGCCTTGGTGAT 0.627 28 155 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87725570 87725570 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:87725570G>T uc003pli.2 + 2 1221 c.518G>T c.(517-519)TGC>TTC p.C173F NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 173 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCTAGTCAGTGCACCATCCAG 0.512 43 71 --- --- --- --- PASS SLC35F1 222553 broad.mit.edu 37 6 118596642 118596642 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:118596642G>T uc003pxx.3 + 5 859 c.658G>T c.(658-660)GAC>TAC p.D220Y SLC35F1_uc003pxy.1_Missense_Mutation_p.D25Y NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 220 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) GCTGGTAGGGGACCTTCTGGT 0.448 13 61 --- --- --- --- PASS EPB41L2 2037 broad.mit.edu 37 6 131215519 131215519 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:131215519T>C uc003qch.2 - 10 1634 c.1452A>G c.(1450-1452)CTA>CTG p.L484L EPB41L2_uc003qcg.1_Silent_p.L484L|EPB41L2_uc011eby.1_Silent_p.L484L|EPB41L2_uc003qci.2_Silent_p.L484L|EPB41L2_uc010kfk.2_Silent_p.L484L|EPB41L2_uc010kfl.1_Silent_p.L484L NM_001431 NP_001422 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 484 FERM. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity central_nervous_system(1)|skin(1) 2 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) ACACTTTCCATAGTCTTTTCG 0.333 55 140 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132168977 132168977 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:132168977G>T uc011ecf.1 + 2 322 c.302G>T c.(301-303)TGT>TTT p.C101F NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 101 Extracellular (Potential). 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AAACCAAGCTGTGCCAAAGAA 0.264 12 20 --- --- --- --- PASS ENPP1 5167 broad.mit.edu 37 6 132172345 132172345 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:132172345C>A uc011ecf.1 + 4 514 c.494C>A c.(493-495)GCC>GAC p.A165D NM_006208 NP_006199 P22413 ENPP1_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 165 Extracellular (Potential).|SMB 2. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity upper_aerodigestive_tract(2)|ovary(2) 4 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) AGCCTCTGTGCCTGTTCAGAT 0.468 22 92 --- --- --- --- PASS TAAR9 134860 broad.mit.edu 37 6 132860118 132860118 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:132860118G>C uc011eci.1 + 2 692 c.690G>C c.(688-690)AAG>AAC p.K230N NM_175057 NP_778227 Q96RI9 TAAR9_HUMAN trace amine associated receptor 9 230 Cytoplasmic (Potential). plasma membrane G-protein coupled receptor activity 0 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816) AGGCTAGGAAGATAGAAAGTA 0.423 51 65 --- --- --- --- PASS VNN1 8876 broad.mit.edu 37 6 133015200 133015200 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:133015200C>G uc003qdo.2 - 3 483 c.463G>C c.(463-465)GAT>CAT p.D155H NM_004666 NP_004657 O95497 VNN1_HUMAN vanin 1 precursor 155 CN hydrolase. acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress anchored to membrane|integral to membrane|plasma membrane GPI anchor binding|pantetheine hydrolase activity ovary(3) 3 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189) TAACGGCCATCAGGGGGACAC 0.428 14 90 --- --- --- --- PASS PEX7 5191 broad.mit.edu 37 6 137219304 137219304 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:137219304C>G uc003qhd.2 + 9 930 c.828C>G c.(826-828)GAC>GAG p.D276E PEX7_uc010kgx.2_RNA NM_000288 NP_000279 O00628 PEX7_HUMAN peroxisomal biogenesis factor 7 276 ether lipid biosynthetic process|protein import into peroxisome matrix peroxisome peroxisome matrix targeting signal-2 binding 0 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492) CAAAGCCTGACTCTCTTCTTG 0.328 19 61 --- --- --- --- PASS ECT2L 345930 broad.mit.edu 37 6 139204005 139204005 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:139204005G>T uc003qif.1 + 14 2128 c.2025G>T c.(2023-2025)GAG>GAT p.E675D ECT2L_uc011edq.1_Missense_Mutation_p.E606D NM_001077706 NP_001071174 Q008S8 ECT2L_HUMAN epithelial cell transforming sequence 2 675 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity 0 AAACTATTGAGAAGGTAAATG 0.393 6 36 --- --- --- --- PASS GRM1 2911 broad.mit.edu 37 6 146720571 146720571 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:146720571T>A uc010khw.1 + 8 2866 c.2396T>A c.(2395-2397)CTA>CAA p.L799Q GRM1_uc010khv.1_Missense_Mutation_p.L799Q|GRM1_uc003qll.2_Missense_Mutation_p.L799Q|GRM1_uc011edz.1_Missense_Mutation_p.L799Q|GRM1_uc011eea.1_Missense_Mutation_p.L799Q NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 799 Helical; Name=6; (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) ATCATCTGGCTAGCTTTTGTG 0.488 20 109 --- --- --- --- PASS UST 10090 broad.mit.edu 37 6 149342530 149342530 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:149342530C>A uc003qmg.2 + 7 1146 c.850C>A c.(850-852)CTT>ATT p.L284I NM_005715 NP_005706 Q9Y2C2 UST_HUMAN uronyl-2-sulfotransferase 284 Lumenal (Potential). protein sulfation Golgi membrane|integral to membrane sulfotransferase activity ovary(2) 2 Ovarian(120;0.0907) OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138) CGTGGGGATTCTTGAAGAGTT 0.413 22 42 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152477094 152477094 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:152477094C>A uc010kiw.2 - 132 24531 c.23929G>T c.(23929-23931)GAC>TAC p.D7977Y SYNE1_uc010kiv.2_Missense_Mutation_p.D2501Y|SYNE1_uc003qos.3_Missense_Mutation_p.D2501Y|SYNE1_uc003qot.3_Missense_Mutation_p.D7906Y|SYNE1_uc003qou.3_Missense_Mutation_p.D7977Y|SYNE1_uc003qop.3_Missense_Mutation_p.D139Y|SYNE1_uc011eez.1_Missense_Mutation_p.D179Y|SYNE1_uc003qoq.3_Missense_Mutation_p.D179Y|SYNE1_uc003qor.3_Missense_Mutation_p.D877Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7977 Spectrin 28.|Cytoplasmic (Potential).|HAT 12. 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) CACCGCCGGTCCAGGTTTCTC 0.512 HNSCC(10;0.0054) 31 74 --- --- --- --- PASS SYTL3 94120 broad.mit.edu 37 6 159166690 159166690 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:159166690C>T uc003qrp.2 + 11 1278 c.1034C>T c.(1033-1035)CCG>CTG p.P345L SYTL3_uc011efp.1_Missense_Mutation_p.P345L|SYTL3_uc003qro.2_Missense_Mutation_p.P277L|SYTL3_uc003qrq.2_Missense_Mutation_p.P277L|SYTL3_uc003qrr.2_Missense_Mutation_p.P345L|SYTL3_uc003qrs.2_Missense_Mutation_p.P277L|SYTL3_uc011efq.1_Missense_Mutation_p.P71L NM_001009991 NP_001009991 Q4VX76 SYTL3_HUMAN synaptotagmin-like 3 345 C2 1. intracellular protein transport endomembrane system|membrane Rab GTPase binding 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06) AAGTGCAATCCGTAAGTTGTT 0.214 9 33 --- --- --- --- PASS PHF10 55274 broad.mit.edu 37 6 170112605 170112605 + Silent SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr6:170112605T>A uc011egy.1 - 8 913 c.834A>T c.(832-834)CCA>CCT p.P278P PHF10_uc011egz.1_Silent_p.P276P|PHF10_uc011eha.1_Silent_p.P129P NM_018288 NP_060758 Q8WUB8 PHF10_HUMAN PHD finger protein 10 isoform a 278 SAY. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding urinary_tract(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) CTGTGTTTAATGGCAGATACC 0.443 27 64 --- --- --- --- PASS COX19 90639 broad.mit.edu 37 7 1009036 1009036 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:1009036C>G uc003sjp.1 - 3 341 c.251G>C c.(250-252)GGA>GCA p.G84A ADAP1_uc010ksc.2_Intron NM_001031617 NP_001026788 Q49B96 COX19_HUMAN COX19 cytochrome c oxidase assembly homolog 84 cytosol 0 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15) CTCTGATTTTCCACTAGTCAA 0.468 73 270 --- --- --- --- PASS SNX8 29886 broad.mit.edu 37 7 2296508 2296508 + Splice_Site SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:2296508C>T uc003slw.2 - 10 1327 c.1284_splice c.e10+1 p.E428_splice NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GGCGGACTCACCTCCTTGTGC 0.672 4 21 --- --- --- --- PASS PAPOLB 56903 broad.mit.edu 37 7 4901033 4901033 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:4901033T>C uc003snk.2 - 1 593 c.409A>G c.(409-411)AAA>GAA p.K137E 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) 136 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) AGTTTCAGTTTAGCATAGAAT 0.418 8 23 --- --- --- --- PASS TNRC18 84629 broad.mit.edu 37 7 5348574 5348574 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:5348574C>T uc003soi.3 - 29 8981 c.8632G>A c.(8632-8634)GAC>AAC p.D2878N NM_001080495 NP_001073964 O15417 TNC18_HUMAN trinucleotide repeat containing 18 2878 BAH. DNA binding 0 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) GACTTCTGGTCCCAGTGCTGT 0.627 7 15 --- --- --- --- PASS EIF2AK1 27102 broad.mit.edu 37 7 6089541 6089541 + Splice_Site SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:6089541A>T uc003spp.2 - 3 557 c.411_splice c.e3+1 p.Q137_splice EIF2AK1_uc003spq.2_Splice_Site_p.Q137_splice|EIF2AK1_uc011jwm.1_Intron NM_014413 NP_055228 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1) 4 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TTTAGGGCTTACCTGACGAAC 0.299 16 63 --- --- --- --- PASS CPVL 54504 broad.mit.edu 37 7 29160628 29160628 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:29160628G>T uc003szv.2 - 2 169 c.50C>A c.(49-51)CCT>CAT p.P17H CPVL_uc003szw.2_Missense_Mutation_p.P17H|CPVL_uc003szx.2_Missense_Mutation_p.P17H NM_031311 NP_112601 Q9H3G5 CPVL_HUMAN serine carboxypeptidase vitellogenic-like 17 proteolysis protein binding|serine-type carboxypeptidase activity ovary(2) 2 ACAGGGGCCAGGCATCAACAG 0.468 3 29 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43506060 43506060 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:43506060G>A uc003tid.1 + 15 3411 c.2806G>A c.(2806-2808)GGG>AGG p.G936R HECW1_uc011kbi.1_Missense_Mutation_p.G902R NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 936 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AAGGAGAGAAGGGTCACTTTC 0.473 18 57 --- --- --- --- PASS HECW1 23072 broad.mit.edu 37 7 43547726 43547726 + Nonsense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:43547726G>T uc003tid.1 + 23 4467 c.3862G>T c.(3862-3864)GAG>TAG p.E1288* HECW1_uc011kbi.1_Nonsense_Mutation_p.E1254* NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 1288 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TGTTGGAGAGGAGGGGTGAGG 0.537 15 34 --- --- --- --- PASS ABCA13 154664 broad.mit.edu 37 7 48314310 48314310 + Nonsense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:48314310G>T uc003toq.2 + 17 5072 c.5047G>T c.(5047-5049)GAA>TAA p.E1683* ABCA13_uc010kyr.2_Nonsense_Mutation_p.E1186* NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1683 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 GGATCAGCTTGAACAAGTTAG 0.378 29 111 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82583933 82583933 + Silent SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:82583933T>A uc003uhx.2 - 5 6625 c.6336A>T c.(6334-6336)TCA>TCT p.S2112S PCLO_uc003uhv.2_Silent_p.S2112S NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2043 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAGACGCTCCTGAGAGAACAC 0.453 14 43 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88964849 88964849 + Missense_Mutation SNP C A A rs10251768 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:88964849C>A uc011khi.1 + 4 3091 c.2553C>A c.(2551-2553)CAC>CAA p.H851Q NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 851 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GAACTCAGCACGACAGATTGG 0.398 HNSCC(36;0.09) 12 42 --- --- --- --- PASS ZAN 7455 broad.mit.edu 37 7 100349951 100349951 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:100349951C>A uc003uwj.2 + 14 2388 c.2223C>A c.(2221-2223)CCC>CCA p.P741P ZAN_uc003uwk.2_Silent_p.P741P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 741 66 X heptapeptide repeats (approximate) (mucin-like domain).|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) CCACCACCCCCACAGAAAAAC 0.517 15 13 --- --- --- --- PASS MUC17 140453 broad.mit.edu 37 7 100678368 100678368 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:100678368T>C uc003uxp.1 + 3 3724 c.3671T>C c.(3670-3672)ATG>ACG p.M1224T MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1224 Extracellular (Potential).|Ser-rich.|18.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) TTAACAAGTATGCCTGTCAGA 0.522 91 334 --- --- --- --- PASS FBXL13 222235 broad.mit.edu 37 7 102669193 102669193 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:102669193G>C uc003vaq.2 - 4 498 c.71C>G c.(70-72)ACT>AGT p.T24S FBXL13_uc010lir.1_Missense_Mutation_p.T24S|FBXL13_uc003var.2_RNA|FBXL13_uc003vas.2_Missense_Mutation_p.T24S|FBXL13_uc003vav.2_Intron NM_145032 NP_659469 Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 isoform 24 0 GTCTCTCCAAGTGCTGCAGGC 0.313 14 23 --- --- --- --- PASS RELN 5649 broad.mit.edu 37 7 103252103 103252103 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:103252103C>T uc003vca.2 - 21 3010 c.2850G>A c.(2848-2850)CTG>CTA p.L950L RELN_uc010liz.2_Silent_p.L950L NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 950 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTGAGTACTCCAGCTTCACCT 0.468 8 33 --- --- --- --- PASS SLC26A4 5172 broad.mit.edu 37 7 107329636 107329636 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:107329636T>C uc003vep.2 + 9 1364 c.1140T>C c.(1138-1140)GAT>GAC p.D380D SLC26A4_uc011kmb.1_5'Flank|SLC26A4_uc011kmc.1_5'Flank NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 380 Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 ACACCATCGATGGGAACCAGG 0.438 Pendred_syndrome 41 99 --- --- --- --- PASS LRRN3 54674 broad.mit.edu 37 7 110763776 110763776 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:110763776T>C uc003vft.3 + 4 1994 c.948T>C c.(946-948)GCT>GCC p.A316A IMMP2L_uc003vfq.1_Intron|IMMP2L_uc010ljr.1_Intron|IMMP2L_uc003vfr.2_Intron|LRRN3_uc003vfu.3_Silent_p.A316A|LRRN3_uc003vfs.3_Silent_p.A316A NM_001099660 NP_001093130 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 precursor 316 Extracellular (Potential).|LRR 11. integral to membrane skin(3)|ovary(2)|pancreas(2)|central_nervous_system(1) 8 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) AAATAGAAGCTACTAACAACC 0.418 20 70 --- --- --- --- PASS OR2A12 346525 broad.mit.edu 37 7 143792811 143792811 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:143792811T>A uc011kty.1 + 1 611 c.611T>A c.(610-612)TTC>TAC p.F204Y NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 204 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) GGTTCTGCGTTCATCTTAGTG 0.532 37 128 --- --- --- --- PASS CNTNAP2 26047 broad.mit.edu 37 7 147815244 147815244 + Silent SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:147815244A>T uc003weu.1 + 16 2934 c.2418A>T c.(2416-2418)CCA>CCT p.P806P NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 806 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TCCCAAACCCATCCTCCTACC 0.428 HNSCC(39;0.1) 36 131 --- --- --- --- PASS GIMAP5 55340 broad.mit.edu 37 7 150440023 150440023 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:150440023A>T uc003whr.1 + 3 1148 c.796A>T c.(796-798)AAC>TAC p.N266Y GIMAP5_uc010lpu.2_Missense_Mutation_p.N124Y NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 266 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) GAACGAGAGTAACTGGGCATA 0.463 18 38 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154561157 154561157 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr7:154561157G>T uc003wlk.2 + 9 1043 c.914G>T c.(913-915)TGG>TTG p.W305L DPP6_uc003wli.2_Missense_Mutation_p.W241L|DPP6_uc003wlm.2_Missense_Mutation_p.W243L|DPP6_uc011kvq.1_Missense_Mutation_p.W198L NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 305 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) ATCGCACACTGGTGGTCTCCG 0.522 9 48 --- --- --- --- PASS ERICH1 157697 broad.mit.edu 37 8 614632 614632 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:614632G>T uc003wph.2 - 6 1368 c.1303C>A c.(1303-1305)CAT>AAT p.H435N ERICH1_uc011kwh.1_Intron|ERICH1_uc003wpe.1_Intron NM_207332 NP_997215 Q86X53 ERIC1_HUMAN glutamate-rich 1 435 large_intestine(2) 2 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) GGAAGGATATGTGTGATCCAG 0.289 55 51 --- --- --- --- PASS CSMD1 64478 broad.mit.edu 37 8 2887023 2887023 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:2887023G>T uc011kwk.1 - 51 8066 c.7676C>A c.(7675-7677)CCC>CAC p.P2559H CSMD1_uc011kwj.1_Missense_Mutation_p.P1888H|CSMD1_uc010lrg.2_Missense_Mutation_p.P627H NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 2559 Extracellular (Potential).|Sushi 16. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TTCAATGCTGGGGCAAGCGAC 0.478 3 6 --- --- --- --- PASS SLC39A14 23516 broad.mit.edu 37 8 22262248 22262248 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:22262248G>T uc003xbq.3 + 2 200 c.25G>T c.(25-27)GCC>TCC p.A9S SLC39A14_uc011kzg.1_Missense_Mutation_p.A9S|SLC39A14_uc003xbp.3_Missense_Mutation_p.A9S|SLC39A14_uc011kzh.1_Missense_Mutation_p.A9S NM_001128431 NP_001121903 Q15043 S39AE_HUMAN solute carrier family 39 (zinc transporter), 9 endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane zinc ion transmembrane transporter activity 0 Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731) GCTGCACCCGGCCTTCCAGAG 0.602 78 63 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35606178 35606178 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:35606178C>G uc003xjr.1 + 12 2228 c.1900C>G c.(1900-1902)CAT>GAT p.H634D UNC5D_uc003xjs.1_Missense_Mutation_p.H629D|UNC5D_uc003xju.1_Missense_Mutation_p.H210D NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 634 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGGAATATCCATTTAAAGAA 0.463 53 86 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38157060 38157060 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:38157060T>C uc003xli.2 - 15 3178 c.2660A>G c.(2659-2661)TAT>TGT p.Y887C WHSC1L1_uc011lbm.1_Missense_Mutation_p.Y887C|WHSC1L1_uc010lwe.2_Intron NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 887 PHD-type 3. cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding breast(1) 1 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) GTGGGACTTATAGGCATATGA 0.403 T NUP98 AML 247 51 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41753903 41753903 + Silent SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:41753903C>G uc003xom.2 - 1 378 c.96G>C c.(94-96)CGG>CGC p.R32R NM_001142446 NP_001135918 P16157 ANK1_HUMAN ankyrin 1 isoform 9 Error:Variant_position_missing_in_P16157_after_alignment axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) AGCGGTTTCTCCGCTTCCTGT 0.612 20 74 --- --- --- --- PASS MYST3 7994 broad.mit.edu 37 8 41792162 41792162 + Silent SNP G A A rs61753682 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:41792162G>A uc010lxb.2 - 18 4120 c.3576C>T c.(3574-3576)ATC>ATT p.I1192I MYST3_uc010lxc.2_Silent_p.I1192I|MYST3_uc003xon.3_Silent_p.I1192I NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1192 histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GAATGGAAACGATGGGCTCAA 0.428 216 138 --- --- --- --- PASS TGS1 96764 broad.mit.edu 37 8 56698931 56698931 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:56698931T>C uc003xsj.3 + 4 861 c.474T>C c.(472-474)TCT>TCC p.S158S TGS1_uc010lyh.2_Silent_p.S62S NM_024831 NP_079107 Q96RS0 TGS1_HUMAN trimethylguanosine synthase homolog 158 cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent Cajal body|cytosol RNA trimethylguanosine synthase activity ovary(1)|lung(1)|breast(1) 3 all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147) Epithelial(17;0.00027)|all cancers(17;0.00251) ATGATCCATCTTCAATTGAAC 0.328 15 49 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67047317 67047317 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:67047317C>A uc003xvv.2 + 3 660 c.434C>A c.(433-435)TCT>TAT p.S145Y TRIM55_uc003xvu.2_Missense_Mutation_p.S145Y|TRIM55_uc003xvw.2_Missense_Mutation_p.S145Y|TRIM55_uc003xvx.2_Missense_Mutation_p.S145Y NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 145 B box-type. cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) CCCACCTGCTCTCTGTGCAAG 0.557 31 125 --- --- --- --- PASS C8orf45 157777 broad.mit.edu 37 8 67809057 67809057 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:67809057T>G uc003xwz.3 + 12 1660 c.1489T>G c.(1489-1491)TTA>GTA p.L497V C8orf45_uc011lev.1_Missense_Mutation_p.L497V|C8orf45_uc011lew.1_Missense_Mutation_p.L428V|C8orf45_uc011lex.1_Missense_Mutation_p.L255V|C8orf45_uc003xwy.3_Missense_Mutation_p.L497V NM_173518 NP_775789 Q4G0Z9 CH045_HUMAN minichromosome maintenance complex 497 DNA replication ATP binding|DNA binding ovary(1) 1 Breast(64;0.186) Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206) GGCATTTGGTTTATTGATTAA 0.398 8 288 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767580 77767580 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:77767580C>A uc003yav.2 + 10 8675 c.8288C>A c.(8287-8289)ACG>AAG p.T2763K ZFHX4_uc003yau.1_Missense_Mutation_p.T2808K|ZFHX4_uc003yaw.1_Missense_Mutation_p.T2763K NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2763 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) TCGATTAATACGGCAATCAGT 0.473 HNSCC(33;0.089) 21 54 --- --- --- --- PASS WWP1 11059 broad.mit.edu 37 8 87423845 87423845 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:87423845C>T uc003ydt.2 + 9 1083 c.803C>T c.(802-804)GCC>GTC p.A268V WWP1_uc010mai.2_Missense_Mutation_p.A44V NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN WW domain containing E3 ubiquitin protein ligase 268 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity lung(1)|liver(1) 2 GAAGAAAATGCCTTGTCTCCA 0.393 11 96 --- --- --- --- PASS RAD54B 25788 broad.mit.edu 37 8 95416346 95416346 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:95416346T>C uc003ygk.2 - 6 1001 c.903A>G c.(901-903)AAA>AAG p.K301K RAD54B_uc010may.1_Silent_p.K108K|RAD54B_uc003ygl.1_RNA NM_012415 NP_036547 O95073 FSBP_HUMAN RAD54 homolog B Error:Variant_position_missing_in_O95073_after_alignment double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA translocase activity|protein binding kidney(2)|lung(1)|skin(1) 4 Breast(36;4.5e-05) BRCA - Breast invasive adenocarcinoma(8;0.00217) TGATTCCTTCTTTCTGATGTG 0.333 Direct_reversal_of_damage|Homologous_recombination 23 22 --- --- --- --- PASS MATN2 4147 broad.mit.edu 37 8 98973703 98973703 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:98973703C>G uc003yic.2 + 5 1134 c.903C>G c.(901-903)TTC>TTG p.F301L MATN2_uc003yib.1_Missense_Mutation_p.F301L|MATN2_uc010mbh.1_Missense_Mutation_p.F301L|MATN2_uc003yid.2_Missense_Mutation_p.F301L|MATN2_uc003yie.1_Missense_Mutation_p.F301L|MATN2_uc010mbi.1_Intron NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 301 EGF-like 2. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CGGGCTCCTTCGTCTGCCAGT 0.557 23 99 --- --- --- --- PASS POP1 10940 broad.mit.edu 37 8 99168342 99168342 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:99168342T>A uc003yij.3 + 15 2222 c.2122T>A c.(2122-2124)TGG>AGG p.W708R POP1_uc011lgv.1_Missense_Mutation_p.W708R|POP1_uc003yik.2_Missense_Mutation_p.W708R NM_001145860 NP_001139332 Q99575 POP1_HUMAN processing of precursor 1 708 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity ovary(1)|breast(1) 2 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CTGCTGTCCCTGGGAGCAGTT 0.478 33 125 --- --- --- --- PASS VPS13B 157680 broad.mit.edu 37 8 100654301 100654301 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:100654301G>T uc003yiv.2 + 34 5669 c.5558G>T c.(5557-5559)TGT>TTT p.C1853F VPS13B_uc003yiw.2_Missense_Mutation_p.C1828F NM_017890 NP_060360 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13B isoform 5 1853 protein transport ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1) 20 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) ACCTATTCCTGTATGGCCTTA 0.353 21 55 --- --- --- --- PASS ODF1 4956 broad.mit.edu 37 8 103564205 103564205 + Nonsense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:103564205C>T uc003ykt.2 + 1 358 c.250C>T c.(250-252)CGA>TGA p.R84* NM_024410 NP_077721 Q14990 ODFP1_HUMAN outer dense fiber of sperm tails 1 84 cell differentiation|multicellular organismal development|spermatogenesis outer dense fiber structural molecule activity ovary(2) 2 all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826) TTACTGTCTGCGACCATCTCT 0.428 17 135 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105361137 105361137 + Silent SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:105361137A>G uc003ylx.1 + 2 406 c.357A>G c.(355-357)AAA>AAG p.K119K NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 119 osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) ACAACTTTAAAGGTCTCCTAG 0.408 29 50 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110488812 110488812 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:110488812G>T uc003yne.2 + 52 8937 c.8833G>T c.(8833-8835)GGT>TGT p.G2945C NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 2945 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TATGAGGAATGGTTCCTCAAA 0.333 HNSCC(38;0.096) 3 21 --- --- --- --- PASS SNTB1 6641 broad.mit.edu 37 8 121644760 121644760 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:121644760T>A uc010mdg.2 - 3 1146 c.920A>T c.(919-921)GAG>GTG p.E307V SNTB1_uc003ype.2_Missense_Mutation_p.E307V NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 307 muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) CTCTCTGACCTCAGCAATCAC 0.532 25 36 --- --- --- --- PASS ST3GAL1 6482 broad.mit.edu 37 8 134472094 134472094 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:134472094C>A uc003yuk.2 - 10 1765 c.936G>T c.(934-936)AAG>AAT p.K312N ST3GAL1_uc003yum.2_Missense_Mutation_p.K312N NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 312 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) GCACCCCCGTCTTGCGAAAAG 0.572 64 137 --- --- --- --- PASS FAM135B 51059 broad.mit.edu 37 8 139164107 139164107 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:139164107G>A uc003yuy.2 - 13 2782 c.2611C>T c.(2611-2613)CCA>TCA p.P871S FAM135B_uc003yux.2_Missense_Mutation_p.P772S|FAM135B_uc003yuz.2_RNA|FAM135B_uc003yva.2_Missense_Mutation_p.P433S|FAM135B_uc003yvb.2_Missense_Mutation_p.P433S NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 871 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) TCAACACCTGGAGTGTTCTCA 0.488 HNSCC(54;0.14) 58 87 --- --- --- --- PASS RHPN1 114822 broad.mit.edu 37 8 144461552 144461552 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:144461552C>T uc003yyb.2 + 8 952 c.819C>T c.(817-819)CTC>CTT p.L273L NM_052924 NP_443156 Q8TCX5 RHPN1_HUMAN rhophilin 1 273 BRO1. signal transduction intracellular large_intestine(1) 1 all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156) CTGCGTCCCTCTGCGCACTGG 0.667 3 12 --- --- --- --- PASS GPT 2875 broad.mit.edu 37 8 145732168 145732168 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr8:145732168G>A uc011lli.1 + 11 1499 c.1342G>A c.(1342-1344)GGC>AGC p.G448S GPT_uc003zdh.3_Missense_Mutation_p.G448S|MFSD3_uc003zdi.1_5'Flank NM_005309 NP_005300 P24298 ALAT1_HUMAN glutamic pyruvate transaminase 448 gluconeogenesis cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding ovary(1)|central_nervous_system(1) 2 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GGAGGAGACCGGCATCTGCGT 0.701 13 35 --- --- --- --- PASS ADAMTSL1 92949 broad.mit.edu 37 9 18504834 18504834 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:18504834G>T uc003zne.3 + 2 198 c.71G>T c.(70-72)AGG>ATG p.R24M ADAMTSL1_uc003znb.2_Missense_Mutation_p.R24M|ADAMTSL1_uc003znc.3_Missense_Mutation_p.R24M NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 24 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) CAGAGTTCCAGGACCGCACGC 0.567 50 59 --- --- --- --- PASS HAUS6 54801 broad.mit.edu 37 9 19089443 19089443 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:19089443T>G uc003znk.2 - 5 804 c.551A>C c.(550-552)GAT>GCT p.D184A HAUS6_uc003znl.1_Missense_Mutation_p.D48A NM_017645 NP_060115 Q7Z4H7 HAUS6_HUMAN HAUS augmin-like complex, subunit 6 184 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleus|spindle ovary(2) 2 GGTAACACAATCTTGTCTTTG 0.333 10 36 --- --- --- --- PASS MOBKL2B 79817 broad.mit.edu 37 9 27455301 27455301 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:27455301G>A uc003zqn.2 - 2 744 c.248C>T c.(247-249)ACC>ATC p.T83I NM_024761 NP_079037 Q86TA1 MOL2B_HUMAN MOB1, Mps One Binder kinase activator-like 2B 83 metal ion binding|protein binding ovary(1)|pleura(1) 2 all_neural(11;9.12e-11) Lung(218;6.54e-05)|LUSC - Lung squamous cell carcinoma(38;0.000397) GGTCCGCTCGGTGCAGAACTC 0.547 14 55 --- --- --- --- PASS UNC13B 10497 broad.mit.edu 37 9 35398283 35398283 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:35398283G>A uc003zwq.2 + 30 3875 c.3583G>A c.(3583-3585)GAG>AAG p.E1195K UNC13B_uc003zwr.2_Missense_Mutation_p.E1195K NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1195 Potential. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) GGGAGGCAAGGAGGTAGGTCT 0.507 16 18 --- --- --- --- PASS HRCT1 646962 broad.mit.edu 37 9 35906398 35906398 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:35906398C>A uc003zyr.1 + 1 210 c.114C>A c.(112-114)GAC>GAA p.D38E NM_001039792 NP_001034881 Q6UXD1 HRCT1_HUMAN histidine rich carboxyl terminus 1 38 integral to membrane 0 GACGGCAGGACTGTGACGTGG 0.602 4 45 --- --- --- --- PASS APBA1 320 broad.mit.edu 37 9 72131330 72131330 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:72131330T>A uc004ahh.2 - 2 1073 c.797A>T c.(796-798)CAG>CTG p.Q266L NM_001163 NP_001154 Q02410 APBA1_HUMAN amyloid beta A4 precursor protein-binding, 266 Munc-18-1 binding. axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle lung(1) 1 GTCCTCCTCCTGCTCGTAGCT 0.662 10 14 --- --- --- --- PASS GDA 9615 broad.mit.edu 37 9 74860170 74860170 + Silent SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:74860170G>T uc004aiq.2 + 12 1425 c.1242G>T c.(1240-1242)GGG>GGT p.G414G GDA_uc011lse.1_Silent_p.G340G|GDA_uc011lsf.1_Silent_p.G340G|GDA_uc004air.2_Silent_p.G414G|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Silent_p.G336G NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 414 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TGTTTTATGGGGACTTTTTTG 0.388 52 63 --- --- --- --- PASS RORB 6096 broad.mit.edu 37 9 77282715 77282715 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:77282715G>T uc004aji.2 + 8 1091 c.1042G>T c.(1042-1044)GAC>TAC p.D348Y RORB_uc004ajh.2_Missense_Mutation_p.D337Y NM_006914 NP_008845 Q92753 RORB_HUMAN RAR-related orphan receptor B 348 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(2)|lung(1)|skin(1) 4 AGGTTCTGATGACCTAGTGAA 0.378 52 46 --- --- --- --- PASS TRPM6 140803 broad.mit.edu 37 9 77416851 77416851 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:77416851C>A uc004ajl.1 - 16 2210 c.1972G>T c.(1972-1974)GTG>TTG p.V658L TRPM6_uc004ajk.1_Missense_Mutation_p.V653L|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajm.1_Missense_Mutation_p.V36L NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 658 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GCATCATCCACCATGTGACTC 0.443 31 48 --- --- --- --- PASS TLE1 7088 broad.mit.edu 37 9 84231614 84231614 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:84231614C>A uc004aly.2 - 10 1153 c.712G>T c.(712-714)GAC>TAC p.D238Y TLE1_uc004alz.2_Missense_Mutation_p.D248Y|TLE1_uc011lsr.1_Missense_Mutation_p.D238Y|TLE1_uc004ama.1_Missense_Mutation_p.D238Y|TLE1_uc011lss.1_Missense_Mutation_p.D164Y NM_005077 NP_005068 Q04724 TLE1_HUMAN transducin-like enhancer protein 1 238 CCN domain. negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway transcription factor binding ovary(1)|skin(1) 2 CCATCACTGTCCTGGAAAAAA 0.353 4 82 --- --- --- --- PASS GRIN3A 116443 broad.mit.edu 37 9 104432353 104432353 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:104432353G>A uc004bbp.1 - 3 2942 c.2341C>T c.(2341-2343)CAT>TAT p.H781Y GRIN3A_uc004bbq.1_Missense_Mutation_p.H781Y NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 781 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TTGGGGTCATGTATTCCAGAA 0.398 13 43 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119976772 119976772 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:119976772C>T uc004bjs.1 - 3 981 c.880G>A c.(880-882)GAC>AAC p.D294N ASTN2_uc004bjr.1_Missense_Mutation_p.D294N|ASTN2_uc004bjt.1_Missense_Mutation_p.D294N NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 294 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TCCTCACAGTCATAGTCATCC 0.622 28 35 --- --- --- --- PASS SLC25A25 114789 broad.mit.edu 37 9 130860954 130860954 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:130860954A>C uc004bte.2 + 1 138 c.109A>C c.(109-111)AGT>CGT p.S37R SLC25A25_uc004btb.2_Intron|SLC25A25_uc004btc.2_Intron|SLC25A25_uc004btd.2_Intron|SLC25A25_uc004btf.2_5'UTR NM_052901 NP_443133 Q6KCM7 SCMC2_HUMAN solute carrier family 25, member 25 isoform a 37 Mitochondrial intermembrane (Potential). transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding 0 TTTCAAGCTCAGTGTCTTCAT 0.582 73 67 --- --- --- --- PASS CIZ1 25792 broad.mit.edu 37 9 130947849 130947849 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:130947849A>G uc004btt.2 - 5 728 c.565T>C c.(565-567)TCC>CCC p.S189P CIZ1_uc004btr.2_Missense_Mutation_p.S189P|CIZ1_uc004bts.2_Missense_Mutation_p.S165P|CIZ1_uc011maq.1_Missense_Mutation_p.S189P|CIZ1_uc004btu.2_Missense_Mutation_p.S165P|CIZ1_uc011mar.1_Missense_Mutation_p.S88P|CIZ1_uc011mas.1_Missense_Mutation_p.S219P|CIZ1_uc004btw.2_Missense_Mutation_p.S189P|CIZ1_uc004btv.2_Missense_Mutation_p.S189P|CIZ1_uc004btx.2_Missense_Mutation_p.S165P NM_001131016 NP_001124488 Q9ULV3 CIZ1_HUMAN CDKN1A interacting zinc finger protein 1 isoform 189 nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 GTGGTAGAGGAGGAGGTCCGG 0.368 3 62 --- --- --- --- PASS TTF1 7270 broad.mit.edu 37 9 135277211 135277211 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:135277211T>G uc004cbl.2 - 2 1050 c.998A>C c.(997-999)AAG>ACG p.K333T TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron NM_007344 NP_031370 Q15361 TTF1_HUMAN transcription termination factor, RNA polymerase 333 Poly-Lys. negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription nucleolus|nucleoplasm DNA binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05) CTTTTTTTTCTTAGACTTGTT 0.512 21 93 --- --- --- --- PASS C9orf9 11092 broad.mit.edu 37 9 135763718 135763718 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:135763718C>G uc004cbx.1 + 4 500 c.389C>G c.(388-390)GCC>GGC p.A130G C9orf9_uc004cby.1_Missense_Mutation_p.A130G|C9orf9_uc004cbz.1_Missense_Mutation_p.A130G NM_018956 NP_061829 Q96E40 CI009_HUMAN Rsb-66 protein 130 p.?(1) 0 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) TGTGACGAGGCCCGGAACCAC 0.612 12 30 --- --- --- --- PASS SNAPC4 6621 broad.mit.edu 37 9 139276418 139276418 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr9:139276418C>G uc004chh.2 - 17 2184 c.2175G>C c.(2173-2175)CAG>CAC p.Q725H NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 725 snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) GCTGCCCACTCTGGGTGGCTC 0.677 8 15 --- --- --- --- PASS TAF3 83860 broad.mit.edu 37 10 8055795 8055795 + Nonsense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:8055795C>G uc010qbd.1 + 6 2670 c.2670C>G c.(2668-2670)TAC>TAG p.Y890* NM_031923 NP_114129 Q5VWG9 TAF3_HUMAN RNA polymerase II transcription factor TAFII140 890 PHD-type. maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription factor TFIID complex protein binding|zinc ion binding ovary(1) 1 ATGACTGGTACCACTGGTGAG 0.577 20 153 --- --- --- --- PASS FAM188A 80013 broad.mit.edu 37 10 15885221 15885221 + Silent SNP C A A rs144611478 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:15885221C>A uc001iod.1 - 3 446 c.225G>T c.(223-225)CGG>CGT p.R75R FAM188A_uc001ioe.1_5'UTR|FAM188A_uc001iof.1_Silent_p.R75R NM_024948 NP_079224 Q9H8M7 F188A_HUMAN chromosome 10 open reading frame 97 75 apoptosis nucleus calcium ion binding ovary(1) 1 CTGAACAATCCCGCCAAGAAG 0.348 61 156 --- --- --- --- PASS SLC39A12 221074 broad.mit.edu 37 10 18270262 18270262 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:18270262C>G uc001ipo.2 + 6 1219 c.946C>G c.(946-948)CTG>GTG p.L316V SLC39A12_uc001ipn.2_Missense_Mutation_p.L316V|SLC39A12_uc001ipp.2_Missense_Mutation_p.L316V|SLC39A12_uc010qck.1_Missense_Mutation_p.L182V NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 316 Cytoplasmic (Potential). L -> R (in Ref. 3; AAH47635). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 TGCTAGGCAGCTGGTGGAGAT 0.453 26 75 --- --- --- --- PASS PARD3 56288 broad.mit.edu 37 10 34573094 34573094 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:34573094C>T uc010qej.1 - 21 3154 c.3154G>A c.(3154-3156)GAG>AAG p.E1052K PARD3_uc010qek.1_Missense_Mutation_p.E1049K|PARD3_uc010qel.1_Intron|PARD3_uc010qem.1_Missense_Mutation_p.E1036K|PARD3_uc010qen.1_Missense_Mutation_p.E1006K|PARD3_uc010qeo.1_Intron|PARD3_uc010qep.1_Missense_Mutation_p.E962K|PARD3_uc010qeq.1_Intron NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN partitioning-defective protein 3 homolog 1052 Potential. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding ovary(1) 1 Breast(68;0.0707) CGTATCCTCTCCTCTTCTGAT 0.343 25 241 --- --- --- --- PASS FXYD4 53828 broad.mit.edu 37 10 43869928 43869928 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:43869928C>A uc001jaq.1 + 4 380 c.48C>A c.(46-48)GCC>GCA p.A16A NM_173160 NP_775183 P59646 FXYD4_HUMAN FXYD domain containing ion transport regulator 4 16 integral to membrane 0 GCCTGACTGCCTTGGAAGCCA 0.577 58 125 --- --- --- --- PASS CHAT 1103 broad.mit.edu 37 10 50827942 50827942 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:50827942C>A uc001jhz.2 + 3 712 c.559C>A c.(559-561)CAG>AAG p.Q187K CHAT_uc001jhv.1_Missense_Mutation_p.Q69K|CHAT_uc001jhx.1_Missense_Mutation_p.Q69K|CHAT_uc001jhy.1_Missense_Mutation_p.Q69K|CHAT_uc001jia.2_Missense_Mutation_p.Q69K|CHAT_uc010qgs.1_Missense_Mutation_p.Q69K NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 187 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) CCTGGAGCGGCAGGAGAAGAC 0.622 12 24 --- --- --- --- PASS DNA2 1763 broad.mit.edu 37 10 70176536 70176536 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:70176536C>G uc001jof.2 - 20 3302 c.3302G>C c.(3301-3303)GGG>GCG p.G1101A DNA2_uc001jog.1_Missense_Mutation_p.G777A|DNA2_uc001joh.1_RNA NM_001080449 NP_001073918 P51530 DNA2L_HUMAN DNA replication helicase 2 homolog 1015 base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication mitochondrial nucleoid|nucleoplasm 5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base 0 GGGCACACACCCCAGAAGAAT 0.353 4 84 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70451518 70451518 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:70451518G>A uc001jok.3 + 12 6863 c.6358G>A c.(6358-6360)GTG>ATG p.V2120M NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 2120 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TGTTGTCACCGTGTCCCCTTA 0.443 5 158 --- --- --- --- PASS LIPA 3988 broad.mit.edu 37 10 90986679 90986679 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:90986679C>T uc001kga.3 - 5 679 c.511G>A c.(511-513)GTG>ATG p.V171M LIPA_uc001kgb.3_Missense_Mutation_p.V115M|LIPA_uc001kgc.3_Missense_Mutation_p.V173M|LIPA_uc010qnf.1_5'Flank|LIPA_uc009xtq.2_Missense_Mutation_p.V171M NM_000235 NP_000226 P38571 LICH_HUMAN lipase A precursor 171 lipid catabolic process lysosome lipase activity|sterol esterase activity 0 Colorectal(252;0.0162) GBM - Glioblastoma multiforme(2;0.00406) GAATGACCCACATAATACACT 0.333 32 45 --- --- --- --- PASS BTAF1 9044 broad.mit.edu 37 10 93768864 93768864 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:93768864G>A uc001khr.2 + 28 4100 c.4002G>A c.(4000-4002)CCG>CCA p.P1334P NM_003972 NP_003963 O14981 BTAF1_HUMAN BTAF1 RNA polymerase II, B-TFIID transcription 1334 Helicase ATP-binding. negative regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Colorectal(252;0.0846) TGGTTTGTCCGCCAACATTAA 0.408 16 51 --- --- --- --- PASS PNLIP 5406 broad.mit.edu 37 10 118314758 118314758 + Nonsense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr10:118314758A>T uc001lcm.2 + 7 683 c.640A>T c.(640-642)AAA>TAA p.K214* NM_000936 NP_000927 P16233 LIPP_HUMAN pancreatic lipase precursor 214 lipid catabolic process|retinoid metabolic process|steroid metabolic process extracellular region retinyl-palmitate esterase activity|triglyceride lipase activity ovary(1)|central_nervous_system(1)|skin(1) 3 all cancers(201;0.0131) Bentiromide(DB00522)|Orlistat(DB01083) CAGCGATGCCAAATTTGTGGA 0.478 28 23 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1080602 1080602 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:1080602A>G uc001lsx.1 + 9 1271 c.1244A>G c.(1243-1245)TAT>TGT p.Y415C NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 415 VWFD 2. inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) GACTGCTACTATGTCCTGGCC 0.667 8 30 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1263832 1263832 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:1263832A>G uc009ycr.1 + 47 7927 c.7801A>G c.(7801-7803)ACA>GCA p.T2601A MUC5B_uc001ltb.2_Missense_Mutation_p.T1911A NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 1908 7 X Cys-rich subdomain repeats.|11 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGGATCCTCACAAAGCCGAC 0.642 48 70 --- --- --- --- PASS KRTAP5-5 439915 broad.mit.edu 37 11 1651380 1651380 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:1651380G>T uc001lty.2 + 1 348 c.310G>T c.(310-312)GTG>TTG p.V104L NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 104 8 X 4 AA repeats of C-C-X-P. keratin filament lung(1) 1 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CTCCTGTGGGGTGTCCAAGGG 0.682 65 81 --- --- --- --- PASS CTSD 1509 broad.mit.edu 37 11 1780299 1780299 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:1780299T>C uc001luc.1 - 4 504 c.371A>G c.(370-372)AAC>AGC p.N124S CTSD_uc009yda.1_RNA NM_001909 NP_001900 P07339 CATD_HUMAN cathepsin D preproprotein 124 cell death|proteolysis extracellular space|lysosome|melanosome aspartic-type endopeptidase activity 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;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTTGTCGCTGTTGTACTTGTG 0.627 87 113 --- --- --- --- PASS TH 7054 broad.mit.edu 37 11 2189775 2189775 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:2189775G>A uc001lvq.2 - 4 545 c.526C>T c.(526-528)CTC>TTC p.L176F TH_uc001lvp.2_Missense_Mutation_p.L172F|TH_uc001lvr.2_Missense_Mutation_p.L145F|TH_uc010qxj.1_Missense_Mutation_p.L149F|TH_uc001lvs.2_Missense_Mutation_p.L145F|TH_uc001lvt.2_Missense_Mutation_p.L149F|TH_uc009ydh.1_5'Flank NM_199292 NP_954986 P07101 TY3H_HUMAN tyrosine hydroxylase isoform a 176 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity 0 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) ACACCACTGAGCAGGGCGGCC 0.697 12 20 --- --- --- --- PASS OR52I1 390037 broad.mit.edu 37 11 4615690 4615690 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:4615690C>G uc010qyi.1 + 1 422 c.422C>G c.(421-423)ACG>AGG p.T141R NM_001005169 NP_001005169 Q8NGK6 O52I1_HUMAN olfactory receptor, family 52, subfamily I, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAATTCTCACGCCTCAAGTG 0.512 36 62 --- --- --- --- PASS OR51A4 401666 broad.mit.edu 37 11 4967584 4967584 + Silent SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:4967584C>G uc010qys.1 - 1 747 c.747G>C c.(745-747)GTG>GTC p.V249V NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 249 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AGAAGATGATCACTGCACAGA 0.483 45 126 --- --- --- --- PASS OR51Q1 390061 broad.mit.edu 37 11 5444139 5444139 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:5444139C>A uc010qzd.1 + 1 709 c.709C>A c.(709-711)CTC>ATC p.L237I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004757 NP_001004757 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, 237 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCTGAGCGACTCCGTGCCCT 0.483 53 93 --- --- --- --- PASS ZNF215 7762 broad.mit.edu 37 11 6977277 6977277 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:6977277T>A uc001mey.2 + 7 1657 c.1069T>A c.(1069-1071)TAT>AAT p.Y357N ZNF215_uc010raw.1_3'UTR|ZNF215_uc010rax.1_Missense_Mutation_p.Y119N|ZNF215_uc001mez.1_Intron NM_013250 NP_037382 Q9UL58 ZN215_HUMAN zinc finger protein 215 357 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134) AGAATATGAATATGGGAATGA 0.348 20 65 --- --- --- --- PASS GTF2H1 2965 broad.mit.edu 37 11 18362877 18362877 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:18362877A>G uc001moi.2 + 7 1371 c.677A>G c.(676-678)CAG>CGG p.Q226R GTF2H1_uc001moh.2_Missense_Mutation_p.Q226R|GTF2H1_uc009yhm.2_Missense_Mutation_p.Q110R NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 226 BSD 2. mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding 0 CGTTTTTTCCAGTCCCATTAT 0.363 NER 14 72 --- --- --- --- PASS ANO3 63982 broad.mit.edu 37 11 26663489 26663489 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:26663489C>A uc001mqt.3 + 22 2333 c.2188C>A c.(2188-2190)CAT>AAT p.H730N ANO3_uc010rdr.1_Missense_Mutation_p.H714N|ANO3_uc010rds.1_Missense_Mutation_p.H569N|ANO3_uc010rdt.1_Missense_Mutation_p.H584N NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 730 Extracellular (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCGGGGAATACATGATGCTTC 0.433 26 88 --- --- --- --- PASS CD44 960 broad.mit.edu 37 11 35227757 35227757 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:35227757A>G uc001mvu.2 + 11 1815 c.1381A>G c.(1381-1383)ATG>GTG p.M461V CD44_uc001mvv.2_Missense_Mutation_p.M418V|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Missense_Mutation_p.M25V|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron NM_000610 NP_000601 P16070 CD44_HUMAN CD44 antigen isoform 1 precursor 461 Extracellular (Potential).|Stem. cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation cell surface|Golgi apparatus|integral to plasma membrane collagen binding|hyaluronic acid binding|receptor activity pancreas(1) 1 all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.00731) Hyaluronidase(DB00070) CTCACACCCCATGGGACGAGG 0.453 42 74 --- --- --- --- PASS ALX4 60529 broad.mit.edu 37 11 44286614 44286614 + Silent SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:44286614C>G uc001myb.2 - 4 1130 c.1026G>C c.(1024-1026)GGG>GGC p.G342G NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 342 hair follicle development 0 CGCTGCTGGCCCCAGAGCCAG 0.687 26 29 --- --- --- --- PASS PHF21A 51317 broad.mit.edu 37 11 45970972 45970972 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:45970972C>T uc001ncc.3 - 12 1829 c.1205G>A c.(1204-1206)GGA>GAA p.G402E PHF21A_uc001ncb.3_Missense_Mutation_p.G403E|PHF21A_uc009ykx.2_Missense_Mutation_p.G403E|PHF21A_uc001nce.2_Missense_Mutation_p.G403E|PHF21A_uc001nca.1_Missense_Mutation_p.G138E NM_001101802 NP_001095272 Q96BD5 PF21A_HUMAN BRAF35/HDAC2 complex isoform a 402 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(1)|skin(1) 2 AAAGACTGCTCCACTGTAGAC 0.463 57 123 --- --- --- --- PASS OR5D14 219436 broad.mit.edu 37 11 55563689 55563689 + Missense_Mutation SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:55563689T>G uc010rim.1 + 1 658 c.658T>G c.(658-660)TAT>GAT p.Y220D NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 220 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) CCTCACTTCCTATGTTTTCAT 0.473 29 124 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595037 55595037 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:55595037C>A uc001nhy.1 + 1 343 c.343C>A c.(343-345)CTG>ATG p.L115M NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 115 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) GGTCTTCCTGCTGGCCGTGAT 0.512 HNSCC(27;0.073) 81 129 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595193 55595193 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:55595193C>G uc001nhy.1 + 1 499 c.499C>G c.(499-501)CTC>GTC p.L167V NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 167 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) TCTTAGGATCCTCTTCTATAG 0.478 HNSCC(27;0.073) 63 140 --- --- --- --- PASS OR6Q1 219952 broad.mit.edu 37 11 57799212 57799212 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:57799212A>T uc010rjz.1 + 1 788 c.788A>T c.(787-789)TAT>TTT p.Y263F OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 263 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) TTCTTTATGTATGTCCAGACC 0.507 48 166 --- --- --- --- PASS MS4A6A 64231 broad.mit.edu 37 11 59945748 59945748 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:59945748C>A uc001nor.2 - 4 562 c.324G>T c.(322-324)AGG>AGT p.R108S MS4A6A_uc001noq.2_Missense_Mutation_p.R108S|MS4A6A_uc001nos.3_Missense_Mutation_p.R136S|MS4A6A_uc009ymv.2_Missense_Mutation_p.R108S|MS4A6A_uc001not.2_Missense_Mutation_p.R108S|MS4A6A_uc010rla.1_Missense_Mutation_p.R136S|MS4A6A_uc010rlb.1_Missense_Mutation_p.R63S NM_152852 NP_690591 Q9H2W1 M4A6A_HUMAN membrane-spanning 4-domains, subfamily A, member 108 Cytoplasmic (Potential). integral to membrane receptor activity 0 GCTTGGTTAACCTTTTCTCTG 0.388 31 48 --- --- --- --- PASS AHNAK 79026 broad.mit.edu 37 11 62301521 62301521 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:62301521C>T uc001ntl.2 - 5 668 c.368G>A c.(367-369)CGC>CAC p.R123H AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 123 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGTGTAGATGCGCTGGTACTC 0.602 23 14 --- --- --- --- PASS C2CD3 26005 broad.mit.edu 37 11 73829418 73829418 + Missense_Mutation SNP T C C rs141826355 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:73829418T>C uc001ouu.2 - 9 1602 c.1375A>G c.(1375-1377)ACC>GCC p.T459A C2CD3_uc001ouv.2_Missense_Mutation_p.T459A NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 459 centrosome ovary(4)|pancreas(2)|skin(1) 7 Breast(11;4.16e-06) CTGATGCTGGTATCAGATTTC 0.408 41 80 --- --- --- --- PASS PGM2L1 283209 broad.mit.edu 37 11 74054399 74054399 + Silent SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:74054399T>C uc001ovb.1 - 10 1577 c.1281A>G c.(1279-1281)AAA>AAG p.K427K NM_173582 NP_775853 Q6PCE3 PGM2L_HUMAN phosphoglucomutase 2-like 1 427 glucose 1-phosphate metabolic process cytosol glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity ovary(1) 1 Breast(11;3.32e-06) AAAGGACTTCTTTCCCATTTT 0.333 16 107 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76371843 76371843 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:76371843G>T uc001oxq.3 - 3 1037 c.794C>A c.(793-795)CCG>CAG p.P265Q LRRC32_uc001oxr.3_Missense_Mutation_p.P265Q|LRRC32_uc010rsf.1_Missense_Mutation_p.P265Q NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 265 LRR 9.|Extracellular (Potential). integral to plasma membrane 0 GATGAGTCTCGGGAGCGCGGC 0.632 33 68 --- --- --- --- PASS SYTL2 54843 broad.mit.edu 37 11 85422208 85422208 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:85422208G>A uc010rth.1 - 11 2054 c.1778C>T c.(1777-1779)CCG>CTG p.P593L SYTL2_uc010rtg.1_Missense_Mutation_p.P594L|SYTL2_uc010rti.1_Intron|SYTL2_uc010rtj.1_Missense_Mutation_p.P561L|SYTL2_uc001pav.2_Missense_Mutation_p.P35L|SYTL2_uc010rte.1_Intron|SYTL2_uc001pax.2_Missense_Mutation_p.P35L|SYTL2_uc001paz.2_Intron|SYTL2_uc001pba.2_Intron|SYTL2_uc001pay.2_Missense_Mutation_p.P24L|SYTL2_uc001paw.2_Intron|SYTL2_uc009yvj.2_RNA|SYTL2_uc001pbd.2_Intron|SYTL2_uc001pbb.2_Missense_Mutation_p.P931L|SYTL2_uc001pbc.2_Missense_Mutation_p.P915L|SYTL2_uc010rtf.1_Intron NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 593 Ser-rich. 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) TAAAGAGCTCGGGCTCTTCTT 0.423 42 157 --- --- --- --- PASS PRSS23 11098 broad.mit.edu 37 11 86519439 86519439 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:86519439C>T uc001pcb.2 + 2 970 c.754C>T c.(754-756)CTC>TTC p.L252F PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.L220F NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 252 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CCTCCTGGAACTCAAAAAGCC 0.493 37 64 --- --- --- --- PASS MAML2 84441 broad.mit.edu 37 11 95712801 95712801 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:95712801C>A uc001pfw.1 - 5 4067 c.2782G>T c.(2782-2784)GGA>TGA p.G928* NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 928 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCAACAGATCCAGCTCCAAAA 0.413 T MECT1|CRTC3 salivary gland mucoepidermoid 46 112 --- --- --- --- PASS CWF19L2 143884 broad.mit.edu 37 11 107300080 107300080 + Nonsense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:107300080G>C uc010rvp.1 - 8 908 c.878C>G c.(877-879)TCA>TGA p.S293* CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 293 catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TGCTTTATCTGAATATGTGGG 0.348 7 23 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117375666 117375666 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:117375666G>T uc001prh.1 - 10 2337 c.2335C>A c.(2335-2337)CCC>ACC p.P779T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 719 Extracellular (Potential).|Ig-like C2-type 8. 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) ATGACCTTGGGTGGGGGGTAG 0.592 27 52 --- --- --- --- PASS OR10S1 219873 broad.mit.edu 37 11 123848389 123848389 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:123848389G>A uc001pzm.1 - 1 10 c.10C>T c.(10-12)CGC>TGC p.R4C NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) CACACAGAGCGGCTAGTCATC 0.473 55 124 --- --- --- --- PASS OR8B12 219858 broad.mit.edu 37 11 124413240 124413240 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:124413240C>A uc010sam.1 - 1 311 c.311G>T c.(310-312)TGC>TTC p.C104F NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN olfactory receptor, family 8, subfamily B, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) GACAAAGAAGCAGAAGAAGAA 0.473 20 60 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124765505 124765505 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:124765505G>A uc001qbg.2 - 6 1024 c.884C>T c.(883-885)GCT>GTT p.A295V ROBO4_uc010sas.1_Missense_Mutation_p.A150V|ROBO4_uc001qbh.2_Missense_Mutation_p.A185V|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 295 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGCCCACGGAGCTCCCTGGCC 0.647 18 94 --- --- --- --- PASS NCAPD3 23310 broad.mit.edu 37 11 134055385 134055385 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr11:134055385C>A uc001qhd.1 - 17 2688 c.2082G>T c.(2080-2082)AAG>AAT p.K694N NCAPD3_uc010scm.1_RNA|NCAPD3_uc009zda.1_RNA NM_015261 NP_056076 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 694 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 5 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) ATTTTTCTTTCTTGGACCAGA 0.378 32 71 --- --- --- --- PASS B4GALNT3 283358 broad.mit.edu 37 12 657444 657444 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:657444C>A uc001qii.1 + 9 834 c.834C>A c.(832-834)CTC>CTA p.L278L B4GALNT3_uc001qij.1_Silent_p.L180L NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN beta 278 Lumenal (Potential). Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity ovary(1)|skin(1) 2 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TTGACTCCCTCTCCCTGTCCC 0.562 4 66 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7647890 7647890 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:7647890C>A uc001qsz.3 - 6 1335 c.1207G>T c.(1207-1209)GGA>TGA p.G403* CD163_uc001qta.3_Nonsense_Mutation_p.G403*|CD163_uc009zfw.2_Nonsense_Mutation_p.G403* NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 403 SRCR 4.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TCTTTCAGTCCCCAGCCTCTG 0.502 50 115 --- --- --- --- PASS APOBEC1 339 broad.mit.edu 37 12 7803669 7803669 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:7803669G>T uc001qtb.2 - 4 545 c.511C>A c.(511-513)CCA>ACA p.P171T APOBEC1_uc001qtc.2_Missense_Mutation_p.P126T|APOBEC1_uc010sgf.1_Missense_Mutation_p.P171T NM_001644 NP_001635 P41238 ABEC1_HUMAN apolipoprotein B mRNA editing enzyme 171 cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing nucleoplasm cytidine deaminase activity|RNA binding|zinc ion binding 0 CACAGAGGTGGGTATTGTGGC 0.438 7 157 --- --- --- --- PASS TAS2R10 50839 broad.mit.edu 37 12 10978480 10978480 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:10978480G>A uc001qyy.1 - 1 389 c.389C>T c.(388-390)CCC>CTC p.P130L NM_023921 NP_076410 Q9NYW0 T2R10_HUMAN taste receptor, type 2, member 10 130 Helical; Name=4; (Potential). sensory perception of taste integral to membrane taste receptor activity 0 TATCATGAAGGGAAGAACCAT 0.348 16 103 --- --- --- --- PASS SLCO1B1 10599 broad.mit.edu 37 12 21327635 21327635 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:21327635C>T uc001req.3 + 4 455 c.351C>T c.(349-351)TTC>TTT p.F117F NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 117 Helical; Name=3; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) CACATTTCTTCATGGGATAGT 0.338 22 60 --- --- --- --- PASS ARNTL2 56938 broad.mit.edu 37 12 27573381 27573381 + Silent SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:27573381C>G uc001rht.1 + 17 1845 c.1827C>G c.(1825-1827)GCC>GCG p.A609A ARNTL2_uc001rhw.2_Silent_p.A572A|ARNTL2_uc010sjp.1_Missense_Mutation_p.P536R|ARNTL2_uc001rhu.1_Silent_p.A595A|ARNTL2_uc009zji.1_Silent_p.A575A|ARNTL2_uc001rhv.1_Silent_p.A561A|uc001rhx.2_Intron NM_020183 NP_064568 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear 609 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(1)|skin(1) 2 Colorectal(261;0.0847)|Lung SC(9;0.184) ATGACACAGCCATGGCTGCAT 0.453 57 99 --- --- --- --- PASS PDZRN4 29951 broad.mit.edu 37 12 41966568 41966568 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:41966568G>C uc010skn.1 + 10 1458 c.1390G>C c.(1390-1392)GAG>CAG p.E464Q PDZRN4_uc001rmq.3_Missense_Mutation_p.E405Q|PDZRN4_uc009zjz.2_Missense_Mutation_p.E403Q|PDZRN4_uc001rmr.2_Missense_Mutation_p.E290Q NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 663 Potential. ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AGAGGGAGTGGAGCATGAGCT 0.448 13 35 --- --- --- --- PASS CSAD 51380 broad.mit.edu 37 12 53553951 53553951 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:53553951G>A uc001sby.2 - 13 1245 c.1119C>T c.(1117-1119)GGC>GGT p.G373G CSAD_uc001sbw.2_Silent_p.G226G|CSAD_uc009zmt.2_Silent_p.G155G|CSAD_uc010snx.1_Silent_p.G400G|CSAD_uc001sbz.2_Silent_p.G373G|CSAD_uc009zmu.2_Silent_p.G226G|CSAD_uc001sca.3_RNA NM_015989 NP_057073 Q9Y600 CSAD_HUMAN cysteine sulfinic acid decarboxylase 373 carboxylic acid metabolic process pyridoxal phosphate binding|sulfinoalanine decarboxylase activity ovary(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GCCCTTGATCGCCCTGTGCCT 0.637 Hereditary_Prostate_Cancer 10 43 --- --- --- --- PASS IKZF4 64375 broad.mit.edu 37 12 56420643 56420643 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:56420643A>G uc001sjb.1 + 5 524 c.365A>G c.(364-366)AAG>AGG p.K122R IKZF4_uc010sqa.1_Missense_Mutation_p.K75R|IKZF4_uc001sjc.1_Missense_Mutation_p.K122R|IKZF4_uc001sjd.1_Missense_Mutation_p.K20R|IKZF4_uc009zoi.1_Missense_Mutation_p.K77R|IKZF4_uc001sje.1_Missense_Mutation_p.K81R NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 122 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) CTCCTGGAAAAGGACGACAGC 0.592 24 21 --- --- --- --- PASS CS 1431 broad.mit.edu 37 12 56667527 56667527 + Silent SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:56667527G>T uc001sks.1 - 10 1264 c.1074C>A c.(1072-1074)ACC>ACA p.T358T CS_uc010sql.1_Silent_p.T345T|CS_uc001skr.1_Silent_p.T292T|CS_uc001skt.1_Silent_p.T313T|CS_uc010sqm.1_3'UTR NM_004077 NP_004068 O75390 CISY_HUMAN citrate synthase precursor 358 cellular carbohydrate metabolic process|tricarboxylic acid cycle mitochondrial matrix citrate (Si)-synthase activity 0 Myeloproliferative disorder(1001;0.000374) BRCA - Breast invasive adenocarcinoma(357;6.17e-07) CTCGCTGACAGGTATATCGCG 0.438 23 128 --- --- --- --- PASS KIF5A 3798 broad.mit.edu 37 12 57971825 57971825 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:57971825A>G uc001sor.1 + 22 2603 c.2395A>G c.(2395-2397)AAG>GAG p.K799E KIF5A_uc010srr.1_Missense_Mutation_p.K710E NM_004984 NP_004975 Q12840 KIF5A_HUMAN kinesin family member 5A 799 blood coagulation|cell death|microtubule-based movement|synaptic transmission cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm ATP binding|microtubule motor activity ovary(2)|skin(1) 3 CAACCTTCGCAAGCTGTTCGT 0.498 52 42 --- --- --- --- PASS C12orf50 160419 broad.mit.edu 37 12 88388448 88388448 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:88388448C>G uc001tam.1 - 7 722 c.554G>C c.(553-555)GGG>GCG p.G185A C12orf50_uc001tan.2_Missense_Mutation_p.G239A NM_152589 NP_689802 Q8NA57 CL050_HUMAN hypothetical protein LOC160419 185 skin(2)|ovary(1) 3 CTTTGGTTTCCCATGCAATGA 0.338 12 62 --- --- --- --- PASS EPYC 1833 broad.mit.edu 37 12 91366688 91366688 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:91366688G>T uc001tbk.2 - 4 503 c.410C>A c.(409-411)GCT>GAT p.A137D NM_004950 NP_004941 Q99645 EPYC_HUMAN dermatan sulfate proteoglycan 3 precursor 137 LRRNT. female pregnancy proteinaceous extracellular matrix glycosaminoglycan binding skin(1) 1 CGGAGGAATAGCATCAAGTTC 0.358 41 62 --- --- --- --- PASS ACACB 32 broad.mit.edu 37 12 109702913 109702913 + Splice_Site SNP A G G rs113944047 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:109702913A>G uc001tob.2 + 51 7062 c.6943_splice c.e51-2 p.D2315_splice ACACB_uc001toc.2_Splice_Site_p.D2315_splice|ACACB_uc001tod.2_Splice_Site|ACACB_uc010sxm.1_Splice_Site_p.D981_splice NM_001093 NP_001084 O00763 ACACB_HUMAN acetyl-Coenzyme A carboxylase beta acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Biotin(DB00121) GCTCGTCCACAGGACATCCTG 0.652 32 36 --- --- --- --- PASS CUX2 23316 broad.mit.edu 37 12 111744770 111744770 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:111744770G>T uc001tsa.1 + 11 1057 c.904G>T c.(904-906)GCG>TCG p.A302S NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 302 Potential. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GCTGGAGGCCGCGCTGGCCTC 0.637 24 76 --- --- --- --- PASS NOS1 4842 broad.mit.edu 37 12 117658044 117658044 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:117658044G>A uc001twm.1 - 27 4692 c.4006C>T c.(4006-4008)CTG>TTG p.L1336L NM_000620 NP_000611 P29475 NOS1_HUMAN nitric oxide synthase 1, neuronal 1336 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding ovary(3)|skin(3)|pancreas(1) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GACTCCGCCAGCTGCTCCTGC 0.542 58 57 --- --- --- --- PASS NCOR2 9612 broad.mit.edu 37 12 124848272 124848272 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:124848272G>A uc010tba.1 - 21 2998 c.2881C>T c.(2881-2883)CTG>TTG p.L961L NCOR2_uc010tay.1_Silent_p.L961L|NCOR2_uc010taz.1_Silent_p.L944L|NCOR2_uc010tbb.1_Silent_p.L961L|NCOR2_uc010tbc.1_Silent_p.L943L|NCOR2_uc001ugj.1_Silent_p.L961L NM_001077261 NP_001070729 Q9Y618 NCOR2_HUMAN nuclear receptor co-repressor 2 isoform 2 961 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity skin(3)|ovary(1) 4 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTCAGGTCCAGTGGCTTCTGG 0.677 8 120 --- --- --- --- PASS ATP12A 479 broad.mit.edu 37 13 25284996 25284996 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:25284996C>A uc001upp.2 + 21 3151 c.2964C>A c.(2962-2964)CTC>CTA p.L988L ATP12A_uc010aaa.2_Silent_p.L994L NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 988 Lumenal (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) CCTATGGCCTCGGAAGTGTCA 0.498 15 52 --- --- --- --- PASS CSNK1A1L 122011 broad.mit.edu 37 13 37678878 37678878 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:37678878G>T uc001uwm.1 - 1 924 c.516C>A c.(514-516)CAC>CAA p.H172Q NM_145203 NP_660204 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 172 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity large_intestine(1) 1 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) TGTACGGTATGTGTTGCCTGG 0.453 24 96 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42877103 42877103 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:42877103G>T uc001uys.1 + 8 4396 c.4221G>T c.(4219-4221)AAG>AAT p.K1407N NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1407 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AAACAAACAAGGAACTGTTAA 0.368 13 34 --- --- --- --- PASS AKAP11 11215 broad.mit.edu 37 13 42877104 42877104 + Nonsense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:42877104G>T uc001uys.1 + 8 4397 c.4222G>T c.(4222-4224)GAA>TAA p.E1408* NM_016248 NP_057332 Q9UKA4 AKA11_HUMAN A-kinase anchor protein 11 1408 intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding ovary(1)|central_nervous_system(1) 2 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) AACAAACAAGGAACTGTTAAT 0.363 11 35 --- --- --- --- PASS UTP14C 9724 broad.mit.edu 37 13 52604567 52604567 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:52604567C>T uc001vgb.2 + 2 2162 c.1627C>T c.(1627-1629)CGG>TGG p.R543W UTP14C_uc001vgc.2_RNA NM_021645 NP_067677 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, 543 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome ovary(3)|large_intestine(1)|breast(1) 5 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) CCCAAATAATCGGCCTGATGC 0.483 8 142 --- --- --- --- PASS KLHL1 57626 broad.mit.edu 37 13 70293558 70293558 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:70293558C>A uc001vip.2 - 9 2752 c.1958G>T c.(1957-1959)GGA>GTA p.G653V KLHL1_uc010thm.1_Missense_Mutation_p.G592V NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 653 Kelch 5. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ATCATGACCTCCTACTGCATA 0.473 19 76 --- --- --- --- PASS KLF5 688 broad.mit.edu 37 13 73636112 73636112 + Silent SNP T G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:73636112T>G uc001vje.2 + 2 699 c.375T>G c.(373-375)ACT>ACG p.T125T KLF5_uc001vjd.2_Silent_p.T34T NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 125 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) AGTTCTTCACTGACACTGAAG 0.468 40 158 --- --- --- --- PASS GPR183 1880 broad.mit.edu 37 13 99948125 99948125 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:99948125G>T uc001vog.2 - 2 449 c.275C>A c.(274-276)GCA>GAA p.A92E UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron NM_004951 NP_004942 P32249 GP183_HUMAN EBV-induced G protein-coupled receptor 2 92 Helical; Name=2; (Potential). humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 AAAGCCCATTGCATAGTAGGC 0.413 14 59 --- --- --- --- PASS GPR183 1880 broad.mit.edu 37 13 99948126 99948126 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:99948126C>T uc001vog.2 - 2 448 c.274G>A c.(274-276)GCA>ACA p.A92T UBAC2_uc001voa.3_Intron|UBAC2_uc010tiu.1_Intron|UBAC2_uc001vob.3_Intron|UBAC2_uc010tiv.1_Intron|UBAC2_uc001vod.2_Intron|UBAC2_uc001voc.2_Intron|UBAC2_uc010tiw.1_Intron NM_004951 NP_004942 P32249 GP183_HUMAN EBV-induced G protein-coupled receptor 2 92 Helical; Name=2; (Potential). humoral immune response|mature B cell differentiation involved in immune response integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled 0 AAGCCCATTGCATAGTAGGCT 0.408 13 59 --- --- --- --- PASS ITGBL1 9358 broad.mit.edu 37 13 102250553 102250553 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:102250553G>T uc001vpb.2 + 7 1138 c.919G>T c.(919-921)GGG>TGG p.G307W ITGBL1_uc010agb.2_Missense_Mutation_p.G258W|ITGBL1_uc001vpc.3_Missense_Mutation_p.G166W NM_004791 NP_004782 O95965 ITGBL_HUMAN integrin, beta-like 1 (with EGF-like repeat 307 VI.|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway extracellular region|integrin complex binding|receptor activity ovary(1)|skin(1) 2 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) AGGCTGGTATGGGAAGAAGTG 0.493 18 37 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108863160 108863160 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:108863160C>A uc001vqn.2 - 2 730 c.457G>T c.(457-459)GAC>TAC p.D153Y LIG4_uc001vqo.2_Missense_Mutation_p.D153Y|LIG4_uc010agg.1_Missense_Mutation_p.D86Y|LIG4_uc010agf.2_Missense_Mutation_p.D153Y|LIG4_uc001vqp.2_Missense_Mutation_p.D153Y NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 153 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) GCAATTGAGTCTAAAAGGTCG 0.368 NHEJ 17 106 --- --- --- --- PASS TNFSF13B 10673 broad.mit.edu 37 13 108955864 108955864 + Silent SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:108955864C>G uc001vqr.2 + 5 924 c.657C>G c.(655-657)GTC>GTG p.V219V TNFSF13B_uc010agj.2_Silent_p.V200V NM_006573 NP_006564 Q9Y275 TN13B_HUMAN tumor necrosis factor superfamily, member 13b 219 Extracellular (Potential). cell proliferation|immune response|signal transduction extracellular space|integral to membrane|plasma membrane|soluble fraction cytokine activity|tumor necrosis factor receptor binding 0 all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104) all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19) AGGTCCATGTCTTTGGGGATG 0.368 33 68 --- --- --- --- PASS COL4A2 1284 broad.mit.edu 37 13 111114723 111114723 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:111114723G>T uc001vqx.2 + 24 2057 c.1768G>T c.(1768-1770)GGC>TGC p.G590C NM_001846 NP_001837 P08572 CO4A2_HUMAN alpha 2 type IV collagen preproprotein 590 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding skin(3)|central_nervous_system(2)|ovary(1) 6 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CGGCCTCCCAGGCCCTCCCGT 0.622 8 35 --- --- --- --- PASS F10 2159 broad.mit.edu 37 13 113803481 113803481 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:113803481C>A uc001vsx.2 + 8 1174 c.1117C>A c.(1117-1119)CAG>AAG p.Q373K F10_uc001vsy.2_3'UTR|F10_uc001vsz.2_3'UTR NM_000504 NP_000495 P00742 FA10_HUMAN coagulation factor X preproprotein 373 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity pancreas(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188) all cancers(43;0.0805)|Epithelial(84;0.231) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031) GAAGGGCCGGCAGTCCACCAG 0.642 19 39 --- --- --- --- PASS RASA3 22821 broad.mit.edu 37 13 114758029 114758029 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr13:114758029C>T uc001vui.2 - 22 2308 c.2177G>A c.(2176-2178)GGG>GAG p.G726E RASA3_uc010tkk.1_Missense_Mutation_p.G694E|RASA3_uc001vuj.2_Missense_Mutation_p.G343E NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 726 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CTCACGGTCCCCATCAATGTC 0.493 7 33 --- --- --- --- PASS METTL3 56339 broad.mit.edu 37 14 21979304 21979304 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:21979304C>A uc001wbc.2 - 1 154 c.62G>T c.(61-63)AGG>ATG p.R21M METTL3_uc010tlw.1_RNA|METTL3_uc010tlx.1_Missense_Mutation_p.R21M|METTL3_uc001wbd.1_Missense_Mutation_p.R21M NM_019852 NP_062826 Q86U44 MTA70_HUMAN methyltransferase like 3 21 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding pancreas(1)|skin(1) 2 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) CCGCTGCAGCCTCTCCCGCAG 0.652 6 11 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 14 22205217 22205217 + RNA SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:22205217G>T uc010aio.1 + 2 c.116G>T uc001wbp.2_Missense_Mutation_p.R94L|uc010aip.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 4, partial cds, clone: SEB 72. AGCCTGCCCCGGGTTTCCCTG 0.537 9 22 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23866020 23866020 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:23866020G>A uc001wjv.2 - 19 2242 c.2175C>T c.(2173-2175)CGC>CGT p.R725R NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 725 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GGTTCAGGATGCGATACCTGA 0.542 21 40 --- --- --- --- PASS RNF31 55072 broad.mit.edu 37 14 24626791 24626791 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:24626791A>T uc001wmn.1 + 16 2920 c.2671A>T c.(2671-2673)ACC>TCC p.T891S RNF31_uc001wml.1_Missense_Mutation_p.T740S|RNF31_uc010alg.1_Missense_Mutation_p.T650S|RNF31_uc001wmo.1_Missense_Mutation_p.T358S|RNF31_uc001wmp.2_RNA|RNF31_uc010alh.1_Missense_Mutation_p.T75S NM_017999 NP_060469 Q96EP0 RNF31_HUMAN ring finger protein 31 891 IBR-type 2. CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway CD40 receptor complex|internal side of plasma membrane|LUBAC complex ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(1)|ovary(1) 2 GBM - Glioblastoma multiforme(265;0.00861) CTTTCACTGTACCCAGTGCCG 0.602 43 109 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24877435 24877435 + Nonsense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:24877435G>T uc001wpf.3 + 3 877 c.559G>T c.(559-561)GAG>TAG p.E187* NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 187 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 AGCGGTCCAGGAGCTGCTGCT 0.657 3 5 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47566248 47566248 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:47566248G>A uc001wwj.3 - 6 993 c.797C>T c.(796-798)ACA>ATA p.T266I MDGA2_uc001wwi.3_Missense_Mutation_p.T37I|MDGA2_uc010ani.2_5'UTR NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 266 Ig-like 3. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TCCTCCTGTTGTAACACATAC 0.443 25 87 --- --- --- --- PASS SMOC1 64093 broad.mit.edu 37 14 70444656 70444656 + Nonsense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:70444656T>A uc001xls.1 + 5 753 c.500T>A c.(499-501)TTG>TAG p.L167* SMOC1_uc001xlt.1_Nonsense_Mutation_p.L167* NM_022137 NP_071420 Q9H4F8 SMOC1_HUMAN secreted modular calcium-binding protein 1 167 cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction basement membrane calcium ion binding upper_aerodigestive_tract(1)|pancreas(1) 2 all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028) GACAAGCCCTTGAGCCAGGGT 0.433 19 50 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70990987 70990987 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:70990987C>A uc001xme.2 - 2 883 c.638G>T c.(637-639)AGT>ATT p.S213I NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 163 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGTATCATCACTGTCTATCTT 0.378 16 64 --- --- --- --- PASS ADAM20 8748 broad.mit.edu 37 14 70991078 70991078 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:70991078G>C uc001xme.2 - 2 792 c.547C>G c.(547-549)CTT>GTT p.L183V NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 133 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) AGCATTCCAAGAAAGCCCCCA 0.448 18 61 --- --- --- --- PASS YLPM1 56252 broad.mit.edu 37 14 75276445 75276445 + Silent SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:75276445A>T uc001xqj.3 + 7 5008 c.4884A>T c.(4882-4884)CCA>CCT p.P1628P YLPM1_uc001xql.3_RNA|YLPM1_uc001xqm.1_Silent_p.P111P NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 1433 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TGGGTATGCCACCAATGTCCA 0.493 9 39 --- --- --- --- PASS TSHR 7253 broad.mit.edu 37 14 81609986 81609986 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:81609986C>A uc001xvd.1 + 10 1740 c.1584C>A c.(1582-1584)CGC>CGA p.R528R NM_000369 NP_000360 P16473 TSHR_HUMAN thyroid stimulating hormone receptor isoform 1 528 Cytoplasmic (Potential). R -> H. R -> A (in Ref. 4; AAA70232). cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity thyroid(289)|ovary(5)|lung(3)|kidney(1)|skin(1) 299 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) TCGCCATGCGCCTGGACCGGA 0.567 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 14 37 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92949175 92949175 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:92949175C>A uc001yak.2 + 13 1380 c.1356C>A c.(1354-1356)TAC>TAA p.Y452* SLC24A4_uc001yai.2_Nonsense_Mutation_p.Y405*|SLC24A4_uc010twm.1_Nonsense_Mutation_p.Y450*|SLC24A4_uc001yaj.2_Nonsense_Mutation_p.Y433*|SLC24A4_uc010auj.2_Nonsense_Mutation_p.Y341*|SLC24A4_uc010twn.1_Nonsense_Mutation_p.Y225*|SLC24A4_uc001yan.2_Nonsense_Mutation_p.Y163* NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 469 Helical; (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) TGTTCTCCTACATCATGGTGT 0.433 12 33 --- --- --- --- PASS TECPR2 9895 broad.mit.edu 37 14 102900620 102900620 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:102900620G>C uc001ylw.1 + 9 1614 c.1466G>C c.(1465-1467)TGC>TCC p.C489S TECPR2_uc010awl.2_Missense_Mutation_p.C489S|TECPR2_uc010txx.1_Intron NM_014844 NP_055659 O15040 TCPR2_HUMAN tectonin beta-propeller repeat containing 2 489 protein binding lung(1)|central_nervous_system(1)|skin(1) 3 TCGACACCCTGCTCCGAATTT 0.488 17 54 --- --- --- --- PASS PLD4 122618 broad.mit.edu 37 14 105398141 105398141 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:105398141G>A uc001ypu.1 + 8 1116 c.975G>A c.(973-975)CTG>CTA p.L325L PLD4_uc010tyl.1_Silent_p.L332L NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 325 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) AGGCGCTGCTGGCGGTGATGG 0.667 6 9 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105420486 105420486 + Silent SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr14:105420486G>T uc010axc.1 - 7 1422 c.1302C>A c.(1300-1302)GCC>GCA p.A434A AHNAK2_uc001ypx.2_Silent_p.A334A NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 434 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTTCCTCTGGGCCACTGCTG 0.637 17 60 --- --- --- --- PASS TUBGCP5 114791 broad.mit.edu 37 15 22868841 22868841 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:22868841A>G uc001yur.3 + 20 2843 c.2713A>G c.(2713-2715)ATT>GTT p.I905V TUBGCP5_uc001yuq.2_Missense_Mutation_p.I905V NM_052903 NP_443135 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 905 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding skin(1) 1 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) CTCTTCCAAGATTCTACACAG 0.388 18 40 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26828552 26828552 + Silent SNP C G G rs143528720 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:26828552C>G uc001zaz.2 - 5 613 c.471G>C c.(469-471)ACG>ACC p.T157T GABRB3_uc010uae.1_Silent_p.T72T|GABRB3_uc001zba.2_Silent_p.T157T|GABRB3_uc001zbb.2_Silent_p.T213T NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 157 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1) 5 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) ATGCTGCTGTCGTGGTGATTC 0.473 35 40 --- --- --- --- PASS USP8 9101 broad.mit.edu 37 15 50786304 50786304 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:50786304G>C uc001zym.3 + 17 2985 c.2485G>C c.(2485-2487)GAA>CAA p.E829Q USP8_uc001zyl.3_Missense_Mutation_p.E829Q|USP8_uc001zyn.3_Missense_Mutation_p.E829Q|USP8_uc010ufh.1_Missense_Mutation_p.E723Q|uc001zyo.1_RNA|USP8_uc001zyp.3_5'UTR NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 829 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) AGTGGCAGAAGAATTTGGTAT 0.363 27 91 --- --- --- --- PASS TMOD2 29767 broad.mit.edu 37 15 52098581 52098581 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:52098581A>C uc002abk.2 + 9 1105 c.884A>C c.(883-885)CAG>CCG p.Q295P TMOD2_uc002abl.3_Missense_Mutation_p.Q259P|TMOD2_uc010bfb.2_Missense_Mutation_p.Q251P NM_014548 NP_055363 Q9NZR1 TMOD2_HUMAN neuronal tropomodulin isoform a 295 nervous system development cytoplasm|cytoskeleton actin binding|tropomyosin binding ovary(2) 2 all cancers(107;0.00435) CAGAGGCAGCAGTTGGGAACA 0.488 19 22 --- --- --- --- PASS AAGAB 79719 broad.mit.edu 37 15 67524205 67524205 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:67524205C>T uc002aqk.3 - 5 587 c.482G>A c.(481-483)CGA>CAA p.R161Q AAGAB_uc002aql.2_Missense_Mutation_p.R52Q|AAGAB_uc010uju.1_Missense_Mutation_p.R52Q NM_024666 NP_078942 Q6PD74 AAGAB_HUMAN alpha- and gamma-adaptin-binding protein p34 161 protein transport cytoplasm 0 TTGGACAATTCGCTTTACTCC 0.373 66 196 --- --- --- --- PASS LRRC49 54839 broad.mit.edu 37 15 71272438 71272438 + Splice_Site SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:71272438A>T uc002asw.2 + 10 1169 c.922_splice c.e10-2 p.E308_splice LRRC49_uc002asu.2_Splice_Site_p.E298_splice|LRRC49_uc002asx.2_Splice_Site_p.E264_splice|LRRC49_uc010ukf.1_Splice_Site_p.E313_splice|LRRC49_uc002asy.2_Splice_Site_p.E14_splice|LRRC49_uc002asz.2_Splice_Site_p.E280_splice NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 cytoplasm|microtubule ovary(1) 1 AATGTCTTTTAGGAAGAAGAA 0.343 44 41 --- --- --- --- PASS TMEM202 338949 broad.mit.edu 37 15 72700065 72700065 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:72700065G>T uc002auq.2 + 5 653 c.653G>T c.(652-654)AGA>ATA p.R218I TMEM202_uc002aur.2_RNA NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN transmembrane protein 202 218 integral to membrane central_nervous_system(1)|skin(1) 2 TTAACTTCCAGATCGCCTGCC 0.448 42 40 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86807771 86807771 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:86807771C>A uc002blz.1 + 10 1311 c.1231C>A c.(1231-1233)CCT>ACT p.P411T AGBL1_uc002bma.1_Missense_Mutation_p.P142T|AGBL1_uc002bmb.1_Missense_Mutation_p.P105T NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 411 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 AAGTGAAATCCCTGACATTCA 0.458 50 58 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86807772 86807772 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:86807772C>A uc002blz.1 + 10 1312 c.1232C>A c.(1231-1233)CCT>CAT p.P411H AGBL1_uc002bma.1_Missense_Mutation_p.P142H|AGBL1_uc002bmb.1_Missense_Mutation_p.P105H NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 411 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 AGTGAAATCCCTGACATTCAG 0.453 52 57 --- --- --- --- PASS AGBL1 123624 broad.mit.edu 37 15 86807907 86807907 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:86807907A>C uc002blz.1 + 10 1447 c.1367A>C c.(1366-1368)CAT>CCT p.H456P AGBL1_uc002bma.1_Missense_Mutation_p.H187P|AGBL1_uc002bmb.1_Missense_Mutation_p.H150P NM_152336 NP_689549 Q96MI9 CBPC4_HUMAN ATP/GTP binding protein-like 1 456 C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis cytosol metallocarboxypeptidase activity|tubulin binding|zinc ion binding 0 CTGCAGACACATCTGAAGCGT 0.448 44 138 --- --- --- --- PASS ANPEP 290 broad.mit.edu 37 15 90349346 90349346 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:90349346C>G uc002bop.3 - 2 761 c.469G>C c.(469-471)GAG>CAG p.E157Q NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 157 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) TCGGTGGGCTCCACCAGCTCA 0.617 34 33 --- --- --- --- PASS ASB7 140460 broad.mit.edu 37 15 101169888 101169888 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr15:101169888C>T uc002bwk.2 + 5 1227 c.458C>T c.(457-459)CCG>CTG p.P153L ASB7_uc002bwj.2_Missense_Mutation_p.P153L NM_198243 NP_937886 Q9H672 ASB7_HUMAN ankyrin repeat and SOCS box-containing protein 7 153 ANK 5. intracellular signal transduction skin(1) 1 Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) GGTACCACACCGCTTCAGCTC 0.537 8 53 --- --- --- --- PASS C16orf11 146325 broad.mit.edu 37 16 613551 613551 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:613551A>T uc002chk.2 + 2 536 c.257A>T c.(256-258)CAC>CTC p.H86L NM_145270 NP_660313 P0CG20 CP011_HUMAN hypothetical protein LOC146325 86 Pro-rich. central_nervous_system(1) 1 CCTAGGCCCCACGCACCCACC 0.701 9 16 --- --- --- --- PASS NLRC3 197358 broad.mit.edu 37 16 3614973 3614973 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:3614973G>T uc010btn.2 - 4 476 c.65C>A c.(64-66)GCC>GAC p.A22D NM_178844 NP_849172 Q7RTR2 NLRC3_HUMAN NOD3 protein 22 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 CACCTGCTCGGCTGGGGAGCC 0.682 26 16 --- --- --- --- PASS SMG1 23049 broad.mit.edu 37 16 18893616 18893616 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:18893616G>A uc002dfm.2 - 10 1527 c.1164C>T c.(1162-1164)GTC>GTT p.V388V SMG1_uc010bwb.2_Silent_p.V248V NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 388 Interaction with SMG8 and SMG9. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 ATGGAGGAGGGACATCTTCAT 0.458 12 29 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20370847 20370847 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:20370847G>A uc002dhc.1 - 12 1772 c.1549C>T c.(1549-1551)CTA>TTA p.L517L NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 517 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TCCTCAGCTAGCACTTCCTCT 0.368 11 122 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20396046 20396046 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:20396046C>T uc002dhc.1 - 3 553 c.330G>A c.(328-330)CAG>CAA p.Q110Q NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 110 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CAAACTCCTGCTGAAGCTCCT 0.517 9 381 --- --- --- --- PASS EARS2 124454 broad.mit.edu 37 16 23535723 23535723 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:23535723C>T uc002dlt.3 - 9 1573 c.1541G>A c.(1540-1542)CGG>CAG p.R514Q EARS2_uc002dlr.3_RNA|EARS2_uc002dls.3_RNA NM_001083614 NP_001077083 Q5JPH6 SYEM_HUMAN glutamyl-tRNA synthetase 2 precursor 514 glutamyl-tRNA aminoacylation mitochondrial matrix ATP binding|glutamate-tRNA ligase activity|RNA binding 0 GBM - Glioblastoma multiforme(48;0.0353) L-Glutamic Acid(DB00142) GATCCGTTCCCGTACTTCCTT 0.483 30 215 --- --- --- --- PASS CCDC101 112869 broad.mit.edu 37 16 28601690 28601690 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:28601690C>T uc002dqf.2 + 7 678 c.493C>T c.(493-495)CGG>TGG p.R165W uc010vct.1_Intron NM_138414 NP_612423 Q96ES7 SGF29_HUMAN coiled-coil domain containing 101 165 SGF29 C-terminal. establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex methylated histone residue binding central_nervous_system(1) 1 GGTGGCTGCCCGGGTGAAGGC 0.637 5 31 --- --- --- --- PASS VPS35 55737 broad.mit.edu 37 16 46697028 46697028 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:46697028T>C uc002eef.3 - 14 1793 c.1694A>G c.(1693-1695)CAC>CGC p.H565R VPS35_uc002eed.2_Missense_Mutation_p.H386R|VPS35_uc002eee.2_Missense_Mutation_p.H526R NM_018206 NP_060676 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 565 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding 0 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) GATAGTCTGGTGGGCAAATGA 0.358 15 36 --- --- --- --- PASS C16orf57 79650 broad.mit.edu 37 16 58054050 58054050 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:58054050C>G uc002emz.2 + 7 782 c.699C>G c.(697-699)ATC>ATG p.I233M C16orf57_uc010vib.1_Missense_Mutation_p.I215M NM_024598 NP_078874 Q9BQ65 CP057_HUMAN hypothetical protein LOC79650 233 0 TTAAGGCAATCGTGGATGGGT 0.542 12 46 --- --- --- --- PASS CMTM3 123920 broad.mit.edu 37 16 66643809 66643809 + Silent SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:66643809C>A uc002epu.2 + 5 682 c.423C>A c.(421-423)ATC>ATA p.I141I CMTM3_uc002epv.2_Silent_p.I141I|CMTM3_uc002epw.2_Silent_p.I141I|CMTM3_uc002epx.2_Silent_p.I141I|CMTM3_uc002epy.2_RNA NM_001048251 NP_001041716 Q96MX0 CKLF3_HUMAN chemokine-like factor superfamily 3 141 MARVEL.|Helical; (Potential). chemotaxis extracellular space|integral to membrane cytokine activity central_nervous_system(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164) TTGCTACCATCGTGTTTGCAA 0.552 33 46 --- --- --- --- PASS CMTM4 146223 broad.mit.edu 37 16 66655990 66655990 + Missense_Mutation SNP G T T rs138396334 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:66655990G>T uc002epz.2 - 4 780 c.598C>A c.(598-600)CGC>AGC p.R200S CMTM4_uc002eqa.2_Missense_Mutation_p.R200S NM_178818 NP_848933 Q8IZR5 CKLF4_HUMAN chemokine-like factor superfamily 4 isoform 1 200 chemotaxis extracellular space|integral to membrane cytokine activity pancreas(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214) ATCTCAGGGCGACTGTCCACA 0.592 6 12 --- --- --- --- PASS TRADD 8717 broad.mit.edu 37 16 67188723 67188723 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:67188723G>A uc002eri.1 - 5 848 c.768C>T c.(766-768)TAC>TAT p.Y256Y TRADD_uc002erh.1_Silent_p.Y196Y NM_003789 NP_003780 Q15628 TRADD_HUMAN TNFRSF1A-associated via death domain 256 Interaction with KRT14 and KRT18.|Death. activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway cytoskeleton|cytosol|receptor complex binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity lung(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) CCTCGCGCTCGTACTCGTAGG 0.726 3 7 --- --- --- --- PASS RLTPR 146206 broad.mit.edu 37 16 67685325 67685325 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:67685325G>T uc002etn.2 + 24 2455 c.2335G>T c.(2335-2337)GCT>TCT p.A779S RLTPR_uc010cel.1_Missense_Mutation_p.A772S|RLTPR_uc010vjr.1_Missense_Mutation_p.A743S|RLTPR_uc010vjs.1_5'Flank NM_001013838 NP_001013860 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin 779 breast(1) 1 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TCTATATGAAGCTGGAAGCTC 0.582 4 25 --- --- --- --- PASS NFATC3 4775 broad.mit.edu 37 16 68156136 68156136 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:68156136C>G uc002evo.1 + 2 560 c.350C>G c.(349-351)TCT>TGT p.S117C NFATC3_uc010vkl.1_5'UTR|NFATC3_uc010vkm.1_5'UTR|NFATC3_uc010vkn.1_5'UTR|NFATC3_uc010vko.1_5'UTR|NFATC3_uc010vkp.1_5'UTR|NFATC3_uc010vkq.1_5'UTR|NFATC3_uc002evl.2_Intron|NFATC3_uc002evk.2_Missense_Mutation_p.S117C|NFATC3_uc002evm.1_Missense_Mutation_p.S117C|NFATC3_uc002evn.1_Missense_Mutation_p.S117C|NFATC3_uc010vkr.1_5'UTR|NFATC3_uc010vks.1_5'UTR|NFATC3_uc010vkt.1_5'UTR|NFATC3_uc010vku.1_5'UTR|NFATC3_uc010vkv.1_5'UTR|NFATC3_uc010vkw.1_5'UTR|NFATC3_uc010vkx.1_5'UTR|NFATC3_uc010vky.1_5'UTR|NFATC3_uc010vkz.1_5'UTR|NFATC3_uc010vla.1_5'UTR|NFATC3_uc010vlb.1_5'UTR|NFATC3_uc010vlc.1_5'UTR NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 117 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) ACATCTATCTCTCCTAACTGT 0.383 18 74 --- --- --- --- PASS IL34 146433 broad.mit.edu 37 16 70688511 70688511 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:70688511G>A uc002ezh.1 + 2 482 c.99G>A c.(97-99)GAG>GAA p.E33E IL34_uc002ezi.1_Silent_p.E33E NM_152456 NP_689669 Q6ZMJ4 IL34_HUMAN interleukin 34 precursor 33 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding central_nervous_system(1)|skin(1) 2 CGCAGAATGAGGAGTGCACTG 0.577 OREG0023916 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 69 --- --- --- --- PASS PHLPP2 23035 broad.mit.edu 37 16 71715746 71715746 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:71715746C>T uc002fax.2 - 5 804 c.798G>A c.(796-798)GAG>GAA p.E266E PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.E266E|PHLPP2_uc002fay.1_Silent_p.E266E NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein 266 LRR 1. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity ovary(1)|central_nervous_system(1) 2 AGAAGAGATGCTCAGGAACCT 0.473 58 86 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72821618 72821618 + Silent SNP A G G rs112443847 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:72821618A>G uc002fck.2 - 10 11230 c.10557T>C c.(10555-10557)GGT>GGC p.G3519G uc002fcj.1_RNA|ZFHX3_uc002fcl.2_Silent_p.G2605G NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 3519 Poly-Gly. muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) cgccgccgccaccgccgccgc 0.418 3 18 --- --- --- --- PASS ZFHX3 463 broad.mit.edu 37 16 72829353 72829353 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr16:72829353T>C uc002fck.2 - 9 7901 c.7228A>G c.(7228-7230)ACA>GCA p.T2410A ZFHX3_uc002fcl.2_Missense_Mutation_p.T1496A NM_006885 NP_008816 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 isoform A 2410 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding ovary(2)|skin(2) 4 Ovarian(137;0.13) GCCTCCGCTGTAAGCTGCAAG 0.557 22 100 --- --- --- --- PASS TRPV1 7442 broad.mit.edu 37 17 3493612 3493612 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:3493612C>T uc010vrr.1 - 4 1206 c.679G>A c.(679-681)GAC>AAC p.D227N TRPV1_uc010vro.1_Missense_Mutation_p.D227N|TRPV1_uc010vrp.1_Missense_Mutation_p.D227N|TRPV1_uc010vrq.1_Missense_Mutation_p.D225N|TRPV1_uc010vrs.1_Missense_Mutation_p.D227N|TRPV1_uc010vrt.1_Missense_Mutation_p.D227N|TRPV1_uc010vru.1_Missense_Mutation_p.D227N NM_080706 NP_542437 Q8NER1 TRPV1_HUMAN transient receptor potential cation channel, 227 ANK 3.|Cytoplasmic (Potential). cell surface receptor linked signaling pathway|chemosensory behavior|thermoception cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane ATP binding|calcium channel activity|calmodulin binding ovary(1) 1 Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131) Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159) GCCTGGACGTCTGCTCCGTTC 0.582 22 27 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7578525 7578525 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:7578525G>C uc002gim.2 - 5 599 c.405C>G c.(403-405)TGC>TGG p.C135W TP53_uc002gig.1_Missense_Mutation_p.C135W|TP53_uc002gih.2_Missense_Mutation_p.C135W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3W|TP53_uc010cng.1_Missense_Mutation_p.C3W|TP53_uc002gii.1_Missense_Mutation_p.C3W|TP53_uc010cnh.1_Missense_Mutation_p.C135W|TP53_uc010cni.1_Missense_Mutation_p.C135W|TP53_uc002gij.2_Missense_Mutation_p.C135W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42W|TP53_uc002gio.2_Missense_Mutation_p.C3W|TP53_uc010vug.1_Missense_Mutation_p.C96W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 135 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (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.C135Y(49)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.Q136fs*13(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C135_T140delCQLAKT(1)|p.Q136*(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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) TGGCCAGTTGGCAAAACATCT 0.567 111 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) 15 23 --- --- --- --- PASS KDM6B 23135 broad.mit.edu 37 17 7750709 7750709 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:7750709G>C uc002giw.1 + 10 1572 c.1196G>C c.(1195-1197)AGC>ACC p.S399T KDM6B_uc002gix.2_5'Flank NM_001080424 NP_001073893 O15054 KDM6B_HUMAN lysine (K)-specific demethylase 6B 399 Pro-rich. inflammatory response nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen central_nervous_system(1)|pancreas(1) 2 ACCACCACcagcagcagcagt 0.587 10 63 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11725895 11725895 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:11725895G>C uc002gne.2 + 47 9059 c.8991G>C c.(8989-8991)TTG>TTC p.L2997F DNAH9_uc010coo.2_Missense_Mutation_p.L2291F NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2997 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCCGCTTCTTGCAGAACACAG 0.527 47 63 --- --- --- --- PASS ZNF624 57547 broad.mit.edu 37 17 16526311 16526311 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:16526311T>C uc010cpi.1 - 6 1972 c.1889A>G c.(1888-1890)CAT>CGT p.H630R NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 630 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AATTTTCTGATGCTCCTTGAG 0.383 6 185 --- --- --- --- PASS ZNF624 57547 broad.mit.edu 37 17 16527678 16527678 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:16527678C>T uc010cpi.1 - 6 605 c.522G>A c.(520-522)AGG>AGA p.R174R NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN zinc finger protein 624 174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) ATCTCAATATCCTATCATTCC 0.363 44 48 --- --- --- --- PASS C17orf66 256957 broad.mit.edu 37 17 34185239 34185239 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:34185239G>T uc002hke.1 - 11 1266 c.1117C>A c.(1117-1119)CTG>ATG p.L373M C17orf66_uc010wck.1_RNA|C17orf66_uc010wcl.1_Missense_Mutation_p.L333M|C17orf66_uc010wcm.1_Missense_Mutation_p.L339M NM_152781 NP_689994 A2RTY3 CQ066_HUMAN hypothetical protein LOC256957 373 binding breast(2)|skin(1) 3 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) CTCCTGAGCAGGTTAAATGTG 0.527 68 226 --- --- --- --- PASS PLEKHM1 9842 broad.mit.edu 37 17 43552993 43552993 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:43552993C>A uc002ija.2 - 4 566 c.396G>T c.(394-396)GAG>GAT p.E132D PLEKHM1_uc010wjm.1_Missense_Mutation_p.E104D|PLEKHM1_uc002ijb.2_5'UTR|PLEKHM1_uc010wjn.1_Missense_Mutation_p.E81D|hsa-mir-4315-1|MI0015844_5'Flank NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 132 RUN. intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) TCAGGTAGCACTCCATCAGGC 0.622 4 44 --- --- --- --- PASS ITGA3 3675 broad.mit.edu 37 17 48165193 48165193 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:48165193G>T uc010dbl.2 + 24 3469 c.3005G>T c.(3004-3006)GGG>GTG p.G1002V ITGA3_uc010dbm.2_Missense_Mutation_p.G1002V NM_002204 NP_002195 P26006 ITA3_HUMAN integrin alpha 3 isoform a precursor 1002 Helical; (Potential). blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration cell surface|integrin complex protein binding|receptor activity ovary(2)|pancreas(1) 3 GTGGGTGCAGGGCTGCTGCTG 0.647 14 14 --- --- --- --- PASS CACNA1G 8913 broad.mit.edu 37 17 48695256 48695256 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:48695256C>T uc002irk.1 + 30 5564 c.5192C>T c.(5191-5193)GCG>GTG p.A1731V CACNA1G_uc002irj.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irl.1_Missense_Mutation_p.A1708V|CACNA1G_uc002irm.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irn.1_Missense_Mutation_p.A1690V|CACNA1G_uc002iro.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irp.1_Missense_Mutation_p.A1731V|CACNA1G_uc002irq.1_Missense_Mutation_p.A1708V|CACNA1G_uc002irr.1_Missense_Mutation_p.A1731V|CACNA1G_uc002irs.1_Missense_Mutation_p.A1720V|CACNA1G_uc002irt.1_Missense_Mutation_p.A1713V|CACNA1G_uc002irv.1_Missense_Mutation_p.A1720V|CACNA1G_uc002irw.1_Missense_Mutation_p.A1708V|CACNA1G_uc002iru.1_Missense_Mutation_p.A1697V|CACNA1G_uc002irx.1_Missense_Mutation_p.A1644V|CACNA1G_uc002iry.1_Missense_Mutation_p.A1633V|CACNA1G_uc002irz.1_Missense_Mutation_p.A1644V|CACNA1G_uc002isa.1_Missense_Mutation_p.A1610V|CACNA1G_uc002isb.1_Missense_Mutation_p.A1651V|CACNA1G_uc002isc.1_Missense_Mutation_p.A1633V|CACNA1G_uc002isd.1_Missense_Mutation_p.A1626V|CACNA1G_uc002ise.1_Missense_Mutation_p.A1599V|CACNA1G_uc002isf.1_Missense_Mutation_p.A1626V|CACNA1G_uc002isg.1_Missense_Mutation_p.A1592V|CACNA1G_uc002ish.1_Missense_Mutation_p.A1599V|CACNA1G_uc002isi.1_Missense_Mutation_p.A1587V NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1731 IV.|Helical; Name=S4 of repeat IV; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GGCATGCGGGCGCTGCTGGAC 0.652 9 101 --- --- --- --- PASS EPX 8288 broad.mit.edu 37 17 56280656 56280656 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:56280656C>G uc002ivq.2 + 11 2009 c.1923C>G c.(1921-1923)TTC>TTG p.F641L NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 641 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 AGAACCAGTTCAGAAGAGCCC 0.512 25 45 --- --- --- --- PASS TEX14 56155 broad.mit.edu 37 17 56682439 56682439 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:56682439C>A uc010dcz.1 - 11 1372 c.1254G>T c.(1252-1254)CAG>CAT p.Q418H TEX14_uc002iwr.1_Missense_Mutation_p.Q412H|TEX14_uc002iws.1_Missense_Mutation_p.Q412H|TEX14_uc010dda.1_Missense_Mutation_p.Q192H NM_198393 NP_938207 Q8IWB6 TEX14_HUMAN testis expressed sequence 14 isoform a 418 Protein kinase. cytoplasm ATP binding|protein kinase activity stomach(4)|lung(3)|breast(3)|ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)|pancreas(1) 17 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGTTGTATAGCTGCGTAGGAA 0.493 10 54 --- --- --- --- PASS TBC1D16 125058 broad.mit.edu 37 17 77923604 77923604 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:77923604G>A uc002jxj.2 - 7 1434 c.1318C>T c.(1318-1320)CGC>TGC p.R440C TBC1D16_uc002jxh.2_Missense_Mutation_p.R78C|TBC1D16_uc002jxi.2_Missense_Mutation_p.R65C|TBC1D16_uc002jxk.1_Missense_Mutation_p.R78C NM_019020 NP_061893 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 440 Rab-GAP TBC. intracellular Rab GTPase activator activity 0 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) CTGTAATAGCGCAGCAGGAAG 0.587 28 98 --- --- --- --- PASS C17orf101 79701 broad.mit.edu 37 17 80373349 80373349 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:80373349G>A uc002keu.1 - 2 330 c.229C>T c.(229-231)CGT>TGT p.R77C C17orf101_uc002ket.1_Missense_Mutation_p.R77C|C17orf101_uc010dip.1_RNA|HEXDC_uc002kev.3_5'Flank|HEXDC_uc010diq.2_5'Flank NM_024648 NP_078924 Q6PK18 CQ101_HUMAN hypothetical protein LOC79701 isoform 1 77 Lumenal (Potential). integral to membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1) 1 ACCTCGCCACGGCGGGCCAGG 0.637 22 117 --- --- --- --- PASS LPIN2 9663 broad.mit.edu 37 18 2921569 2921569 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:2921569T>C uc002klo.2 - 18 2643 c.2404A>G c.(2404-2406)AAG>GAG p.K802E NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 802 C-LIP. fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) AAGGGCTGCTTAGACGGGGCA 0.408 42 31 --- --- --- --- PASS KIAA1012 22878 broad.mit.edu 37 18 29493400 29493400 + Nonsense_Mutation SNP G A A rs143546887 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:29493400G>A uc002kxc.3 - 5 1067 c.703C>T c.(703-705)CGA>TGA p.R235* KIAA1012_uc002kxb.3_Nonsense_Mutation_p.R181*|KIAA1012_uc002kxd.3_RNA|KIAA1012_uc002kxe.2_Nonsense_Mutation_p.R235* NM_014939 NP_055754 Q9Y2L5 TPPC8_HUMAN hypothetical protein LOC22878 235 ER to Golgi vesicle-mediated transport cis-Golgi network 0 TCTGATGCTCGATTAGATGTT 0.318 20 53 --- --- --- --- PASS KLHL14 57565 broad.mit.edu 37 18 30254622 30254622 + Nonstop_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:30254622A>C uc002kxm.1 - 9 2273 c.1885T>G c.(1885-1887)TAA>GAA p.*629E KLHL14_uc010dmd.1_Nonstop_Mutation_p.*178E NM_020805 NP_065856 Q9P2G3 KLH14_HUMAN kelch-like 14 629 cytosol|endoplasmic reticulum membrane ovary(1) 1 TCCTGGTGTTATTTGTTGTAT 0.438 98 107 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40854120 40854120 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:40854120A>T uc002law.2 - 2 643 c.274T>A c.(274-276)TTG>ATG p.L92M SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.L74M|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 92 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TCCAGATGCAATGAATTCTTT 0.403 37 32 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42530710 42530710 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:42530710A>G uc010dni.2 + 4 1701 c.1405A>G c.(1405-1407)AAA>GAA p.K469E NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 469 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TAAGTTGAGTAAAATGATAGA 0.483 Schinzel-Giedion_syndrome 56 70 --- --- --- --- PASS SETBP1 26040 broad.mit.edu 37 18 42531632 42531632 + Missense_Mutation SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:42531632T>A uc010dni.2 + 4 2623 c.2327T>A c.(2326-2328)ATG>AAG p.M776K NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 776 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCAGCAGCTATGCACCCACTT 0.512 Schinzel-Giedion_syndrome 29 28 --- --- --- --- PASS KIAA0427 9811 broad.mit.edu 37 18 46284390 46284390 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:46284390G>T uc002ldc.2 + 8 970 c.685G>T c.(685-687)GGG>TGG p.G229W KIAA0427_uc002ldd.2_Missense_Mutation_p.G229W|KIAA0427_uc002lde.3_5'Flank NM_014772 NP_055587 O43310 CTIF_HUMAN hypothetical protein LOC9811 isoform 1 229 Interaction with NCBP1/CBP80. nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation perinuclear region of cytoplasm protein binding 0 ATCCTACCAGGGGGGCTCAGC 0.642 46 46 --- --- --- --- PASS RAX 30062 broad.mit.edu 37 18 56939814 56939814 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:56939814C>T uc002lhx.2 - 2 509 c.322G>A c.(322-324)GAG>AAG p.E108K RAX_uc010dpp.2_Intron NM_013435 NP_038463 Q9Y2V3 RX_HUMAN retina and anterior neural fold homeobox 108 visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Lung NSC(161;0.0804)|Colorectal(73;0.0946) STAD - Stomach adenocarcinoma(84;0.18) GGCCGTGCCTCCCCGGGCTCC 0.701 18 16 --- --- --- --- PASS CTDP1 9150 broad.mit.edu 37 18 77475422 77475422 + Silent SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr18:77475422G>C uc002lnh.1 + 8 2109 c.1962G>C c.(1960-1962)ACG>ACC p.T654T CTDP1_uc002lni.1_Silent_p.T654T|CTDP1_uc010drd.1_Silent_p.T654T NM_004715 NP_004706 Q9Y5B0 CTDP1_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 654 BRCT. 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) TAGAGAAGACGCGGGAGCATT 0.627 2 5 --- --- --- --- PASS STAP2 55620 broad.mit.edu 37 19 4330043 4330043 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:4330043C>A uc002mab.2 - 5 467 c.370G>T c.(370-372)GAC>TAC p.D124Y STAP2_uc002mac.2_Missense_Mutation_p.D124Y|STAP2_uc002mad.2_Missense_Mutation_p.D17Y NM_001013841 NP_001013863 Q9UGK3 STAP2_HUMAN signal transducing adaptor family member 2 124 PH. cytoplasm|nucleus protein binding central_nervous_system(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) AGGGTCAAGTCGGTCGGGACA 0.617 12 19 --- --- --- --- PASS MPND 84954 broad.mit.edu 37 19 4352936 4352936 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:4352936G>C uc002mae.2 + 4 641 c.574G>C c.(574-576)GAG>CAG p.E192Q MPND_uc010dtx.2_RNA|MPND_uc002mag.2_Missense_Mutation_p.E192Q|MPND_uc002maf.2_Missense_Mutation_p.E192Q|MPND_uc002mah.2_Missense_Mutation_p.E80Q|MPND_uc002mai.2_Missense_Mutation_p.E80Q NM_032868 NP_116257 Q8N594 MPND_HUMAN MPN domain containing isoform 1 192 Poly-Glu. peptidase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) gctgatggaagaggaggagga 0.532 20 15 --- --- --- --- PASS SMARCA4 6597 broad.mit.edu 37 19 11096082 11096082 + Splice_Site SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:11096082G>T uc002mqf.3 + 3 639 c.355_splice c.e3+1 p.G119_splice SMARCA4_uc010dxp.2_Splice_Site_p.G119_splice|SMARCA4_uc010dxo.2_Splice_Site_p.G119_splice|SMARCA4_uc002mqg.1_Splice_Site_p.G119_splice|SMARCA4_uc010dxq.2_Splice_Site_p.G119_splice|SMARCA4_uc010dxr.2_Splice_Site_p.G119_splice|SMARCA4_uc002mqj.3_Splice_Site_p.G119_splice|SMARCA4_uc010dxs.2_Splice_Site_p.G119_splice|SMARCA4_uc002mqe.2_Splice_Site_p.G119_splice NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CACTCCCAAGGTACAGAACTG 0.592 F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 19 8 --- --- --- --- PASS EPOR 2057 broad.mit.edu 37 19 11489435 11489435 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:11489435A>T uc002mrj.1 - 7 983 c.847T>A c.(847-849)TGG>AGG p.W283R EPOR_uc002mrh.2_5'UTR|EPOR_uc002mri.2_Missense_Mutation_p.W110R|EPOR_uc002mrk.1_Missense_Mutation_p.W110R|EPOR_uc002mrl.1_RNA|EPOR_uc010xlx.1_RNA|EPOR_uc010xly.1_Missense_Mutation_p.W110R NM_000121 NP_000112 P19235 EPOR_HUMAN erythropoietin receptor precursor 283 Cytoplasmic (Potential).|Box 1 motif. extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding ovary(1) 1 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) ATGCCAGGCCAGATCTTCTGC 0.517 28 35 --- --- --- --- PASS WIZ 58525 broad.mit.edu 37 19 15535478 15535478 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:15535478C>T uc002nbc.2 - 6 2520 c.2497G>A c.(2497-2499)GCC>ACC p.A833T WIZ_uc002nba.3_Missense_Mutation_p.A700T|WIZ_uc002nbb.3_Missense_Mutation_p.A659T NM_021241 NP_067064 O95785 WIZ_HUMAN widely-interspaced zinc finger motifs 1516 nucleus zinc ion binding 0 GGCGGGCTGGCTGCCAGAGGC 0.736 4 14 --- --- --- --- PASS HOMER3 9454 broad.mit.edu 37 19 19042181 19042181 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:19042181C>A uc002nku.2 - 8 1500 c.847G>T c.(847-849)GAG>TAG p.E283* HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Nonsense_Mutation_p.E247*|HOMER3_uc010ebz.2_Nonsense_Mutation_p.E283*|HOMER3_uc002nkw.2_Nonsense_Mutation_p.E283*|HOMER3_uc002nkv.2_Nonsense_Mutation_p.E283* NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homer, neuronal immediate early gene, 3 isoform 283 Potential. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding 0 Epithelial(12;0.0107) TCCAGGGCCTCGCGGGGCCCC 0.627 38 39 --- --- --- --- PASS HAPLN4 404037 broad.mit.edu 37 19 19369455 19369455 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:19369455C>T uc002nmb.2 - 4 749 c.694G>A c.(694-696)GGC>AGC p.G232S HAPLN4_uc002nmc.2_Missense_Mutation_p.G232S NM_023002 NP_075378 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 232 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding pancreas(1) 1 Epithelial(12;0.00575) CCCCCCAGGCCGCCGCAGGGC 0.726 7 18 --- --- --- --- PASS SF4 57794 broad.mit.edu 37 19 19389575 19389575 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:19389575C>A uc002nmh.2 - 11 1561 c.1559G>T c.(1558-1560)CGG>CTG p.R520L SF4_uc002nmf.2_Missense_Mutation_p.R70L|SF4_uc002nmg.2_Missense_Mutation_p.R70L|SF4_uc002nmi.2_Missense_Mutation_p.R310L|SF4_uc002nmj.2_Missense_Mutation_p.R310L|SF4_uc002nme.2_Missense_Mutation_p.R70L NM_172231 NP_757386 Q8IWZ8 SUGP1_HUMAN splicing factor 4 520 nuclear mRNA splicing, via spliceosome nucleoplasm|spliceosomal complex RNA binding 0 GTGCTTGCCCCGGCCCATCTT 0.592 7 16 --- --- --- --- PASS ZNF492 57615 broad.mit.edu 37 19 22836207 22836207 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:22836207A>C uc002nqw.3 + 2 250 c.6A>C c.(4-6)TTA>TTC p.L2F NM_020855 NP_065906 Q9P255 ZN492_HUMAN zinc finger protein 492 2 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244) ATGTGATGTTAGAGAACTACA 0.393 58 80 --- --- --- --- PASS ATP4A 495 broad.mit.edu 37 19 36051408 36051408 + Missense_Mutation SNP C A A rs141192219 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:36051408C>A uc002oal.1 - 6 673 c.644G>T c.(643-645)CGC>CTC p.R215L ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN hydrogen/potassium-exchanging ATPase 4A 215 Cytoplasmic (Potential). ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding ovary(1) 1 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CGCCAGGATGCGGATGTCGGC 0.632 25 23 --- --- --- --- PASS RASGRP4 115727 broad.mit.edu 37 19 38916724 38916724 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:38916724C>A uc002oir.2 - 1 222 c.8G>T c.(7-9)AGA>ATA p.R3I RASGRP4_uc010xua.1_Missense_Mutation_p.R3I|RASGRP4_uc010xub.1_Missense_Mutation_p.R3I|RASGRP4_uc010xuc.1_Missense_Mutation_p.R3I|RASGRP4_uc010xud.1_Missense_Mutation_p.R3I|RASGRP4_uc010xue.1_Missense_Mutation_p.R3I|RASGRP4_uc010egb.2_Missense_Mutation_p.R3I NM_170604 NP_733749 Q8TDF6 GRP4_HUMAN RAS guanyl releasing protein 4 isoform a 3 activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|membrane fraction|plasma membrane|soluble fraction diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity pancreas(1)|lung(1)|skin(1) 3 all_cancers(60;4.21e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) ACTGTCTTTTCTGTTCATGCT 0.652 14 10 --- --- --- --- PASS ERF 2077 broad.mit.edu 37 19 42752640 42752640 + Missense_Mutation SNP A C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:42752640A>C uc002ote.3 - 4 1782 c.1624T>G c.(1624-1626)TCC>GCC p.S542A ERF_uc002otd.3_Missense_Mutation_p.S273A NM_006494 NP_006485 P50548 ERF_HUMAN Ets2 repressor factor 542 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity lung(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Prostate(69;0.00682) TGCTCCAGGGAGAGCTGGGCC 0.682 24 14 --- --- --- --- PASS LIG1 3978 broad.mit.edu 37 19 48664717 48664717 + Missense_Mutation SNP G A A rs4987181 byFrequency TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:48664717G>A uc002pia.1 - 4 275 c.155C>T c.(154-156)CCG>CTG p.P52L LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Missense_Mutation_p.P52L|LIG1_uc010xzg.1_Missense_Mutation_p.P22L|LIG1_uc010xzh.1_RNA NM_000234 NP_000225 P18858 DNLI1_HUMAN DNA ligase I 52 anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding large_intestine(2)|lung(1) 3 all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329) Bleomycin(DB00290) CCTCTTCACCGGAGAGTCACT 0.627 NER 34 109 --- --- --- --- PASS CCDC114 93233 broad.mit.edu 37 19 48807010 48807010 + Silent SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:48807010G>C uc002pir.2 - 8 1457 c.774C>G c.(772-774)ACC>ACG p.T258T CCDC114_uc002piq.2_Silent_p.T67T|CCDC114_uc002pio.2_Silent_p.T295T|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Silent_p.T295T|CCDC114_uc002piu.1_Silent_p.T295T NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 258 ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) TCTCCTGGGAGGTCTTCCAGA 0.622 38 53 --- --- --- --- PASS MED25 81857 broad.mit.edu 37 19 50322430 50322430 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:50322430A>G uc002ppw.1 + 3 235 c.182A>G c.(181-183)TAT>TGT p.Y61C MED25_uc010ybe.1_Intron|MED25_uc010enl.1_Missense_Mutation_p.Y61C NM_030973 NP_112235 Q71SY5 MED25_HUMAN mediator complex subunit 25 61 Interaction with the Mediator complex. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ovary(1) 1 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CCCTCCCAGTATGGGGGGACC 0.373 27 27 --- --- --- --- PASS KLK1 3816 broad.mit.edu 37 19 51322498 51322498 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:51322498C>T uc002ptk.1 - 5 780 c.741G>A c.(739-741)GTG>GTA p.V247V KLK1_uc010ycg.1_RNA NM_002257 NP_002248 P06870 KLK1_HUMAN kallikrein 1 preproprotein 247 Peptidase S1. proteolysis nucleus serine-type endopeptidase activity 0 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CATAAGACAGCACTCTGACGG 0.562 28 78 --- --- --- --- PASS SIGLEC12 89858 broad.mit.edu 37 19 52004673 52004673 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:52004673G>A uc002pwx.1 - 1 371 c.315C>T c.(313-315)ACC>ACT p.T105T SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR NM_053003 NP_443729 Q96PQ1 SIG12_HUMAN sialic acid binding immunoglobulin-like 105 Ig-like V-type 1.|Extracellular (Potential). cell adhesion integral to membrane sugar binding ovary(3)|skin(2) 5 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) TGATGCTCAGGGTACAATCCT 0.498 63 90 --- --- --- --- PASS ZNF677 342926 broad.mit.edu 37 19 53740440 53740440 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:53740440G>T uc002qbf.1 - 5 1725 c.1540C>A c.(1540-1542)CCT>ACT p.P514T ZNF677_uc002qbg.1_Missense_Mutation_p.P514T NM_182609 NP_872415 Q86XU0 ZN677_HUMAN zinc finger protein 677 514 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(134;0.00352) CATTTGTAAGGTTTCTCTCCA 0.348 19 41 --- --- --- --- PASS KIR2DS4 3809 broad.mit.edu 37 19 55354367 55354367 + Missense_Mutation SNP A G G rs1130508 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:55354367A>G uc002qhm.1 + 6 755 c.709A>G c.(709-711)AAA>GAA p.K237E KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Intron|KIR2DS4_uc002qhn.1_Intron NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 237 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACCAAGCTCCAAAACCGGTGA 0.507 6 48 --- --- --- --- PASS EPS8L1 54869 broad.mit.edu 37 19 55590382 55590382 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:55590382A>G uc002qis.3 + 4 178 c.74A>G c.(73-75)TAC>TGC p.Y25C EPS8L1_uc010ess.1_Intron|EPS8L1_uc010est.1_Missense_Mutation_p.Y25C|EPS8L1_uc010yfr.1_Intron|EPS8L1_uc010esu.1_Intron|EPS8L1_uc002qiu.2_5'Flank|EPS8L1_uc002qiv.2_5'Flank|EPS8L1_uc002qiw.2_5'Flank NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN epidermal growth factor receptor pathway 25 cytoplasm 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AGGAAGCGTTACTCCACAGTT 0.403 41 47 --- --- --- --- PASS FIZ1 84922 broad.mit.edu 37 19 56104586 56104586 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:56104586C>A uc002qli.3 - 3 811 c.721G>T c.(721-723)GCG>TCG p.A241S FIZ1_uc002qlj.3_Missense_Mutation_p.A241S NM_032836 NP_116225 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 241 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TCCAGCAGCGCGGGCGCGTTG 0.582 3 4 --- --- --- --- PASS NLRP13 126204 broad.mit.edu 37 19 56423967 56423967 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:56423967C>G uc010ygg.1 - 5 1241 c.1216G>C c.(1216-1218)GAG>CAG p.E406Q NM_176810 NP_789780 Q86W25 NAL13_HUMAN NACHT, leucine rich repeat and PYD containing 406 NACHT. ATP binding skin(4)|ovary(3)|pancreas(1)|lung(1) 9 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGGATTTTCTCAACTTCACTT 0.458 41 46 --- --- --- --- PASS SRXN1 140809 broad.mit.edu 37 20 629441 629441 + Nonsense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:629441C>A uc002wea.2 - 2 392 c.331G>T c.(331-333)GAG>TAG p.E111* SRXN1_uc002web.2_RNA NM_080725 NP_542763 Q9BYN0 SRXN1_HUMAN sulfiredoxin 1 homolog 111 response to oxidative stress cytosol antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity ovary(1) 1 GGGATGGTCTCTCGCTGCAGT 0.602 4 72 --- --- --- --- PASS VPS16 64601 broad.mit.edu 37 20 2845948 2845948 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:2845948G>A uc002whe.2 + 21 2207 c.2159G>A c.(2158-2160)CGC>CAC p.R720H VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.R576H|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.R406H|VPS16_uc002whi.2_Missense_Mutation_p.R204H NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 720 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 CGTGACTTCCGCATCCCTGAC 0.602 3 27 --- --- --- --- PASS CHGB 1114 broad.mit.edu 37 20 5905692 5905692 + Silent SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:5905692C>G uc002wmg.2 + 5 2337 c.2031C>G c.(2029-2031)GGC>GGG p.G677G CHGB_uc010zqz.1_Silent_p.G360G NM_001819 NP_001810 P05060 SCG1_HUMAN chromogranin B precursor 677 extracellular region hormone activity breast(3)|skin(2)|ovary(1) 6 GCCAAAGGGGCTGACTGTCAT 0.443 30 23 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20243735 20243735 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:20243735G>T uc002wru.2 + 21 2540 c.2464G>T c.(2464-2466)GCA>TCA p.A822S C20orf26_uc010zse.1_Missense_Mutation_p.A802S|C20orf26_uc002wrw.2_RNA|C20orf26_uc002wrv.2_Missense_Mutation_p.A178S NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 822 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TTGCTTTAAGGCACTGATTTG 0.453 46 60 --- --- --- --- PASS TGIF2 60436 broad.mit.edu 37 20 35219734 35219734 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:35219734C>T uc002xfn.2 + 3 787 c.614C>T c.(613-615)GCG>GTG p.A205V C20orf24_uc002xfo.2_Intron NM_021809 NP_068581 Q9GZN2 TGIF2_HUMAN TGFB-induced factor homeobox 2 205 Repressive function. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity pancreas(1)|skin(1) 2 Breast(12;0.114) Myeloproliferative disorder(115;0.00878) GTGGAGGTGGCGCTACAGAGG 0.577 6 166 --- --- --- --- PASS CDH22 64405 broad.mit.edu 37 20 44839103 44839103 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:44839103C>A uc002xrm.2 - 6 1530 c.1129G>T c.(1129-1131)GAC>TAC p.D377Y CDH22_uc010ghk.1_Missense_Mutation_p.D377Y|CDH22_uc002xrn.1_Missense_Mutation_p.D128Y NM_021248 NP_067071 Q9UJ99 CAD22_HUMAN cadherin 22 precursor 377 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|skin(1) 5 Myeloproliferative disorder(115;0.0122) ATCGCCTGGTCGCGGAACGTG 0.711 19 16 --- --- --- --- PASS KCNG1 3755 broad.mit.edu 37 20 49626862 49626862 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:49626862G>A uc002xwa.3 - 2 309 c.14C>T c.(13-15)CCG>CTG p.P5L KCNG1_uc002xwb.2_Missense_Mutation_p.P5L NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 5 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 ATTGTCTCCCGGTAAGAGGGT 0.622 29 16 --- --- --- --- PASS ATP9A 10079 broad.mit.edu 37 20 50342406 50342406 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:50342406A>T uc002xwg.1 - 3 279 c.279T>A c.(277-279)TTT>TTA p.F93L ATP9A_uc010gih.1_Missense_Mutation_p.F78L NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 93 Extracellular (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(4) 4 TTTCGGGAACAAACTGAGAGC 0.423 18 111 --- --- --- --- PASS LAMA5 3911 broad.mit.edu 37 20 60887294 60887294 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:60887294C>T uc002ycq.2 - 69 9506 c.9439G>A c.(9439-9441)GTC>ATC p.V3147I NM_005560 NP_005551 O15230 LAMA5_HUMAN laminin alpha 5 precursor 3147 Laminin G-like 3. 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) CCGGAGTAGACGTTGCCAGTG 0.682 8 31 --- --- --- --- PASS OGFR 11054 broad.mit.edu 37 20 61444298 61444298 + Missense_Mutation SNP G A A rs41310199 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:61444298G>A uc002ydj.2 + 7 1366 c.1331G>A c.(1330-1332)CGC>CAC p.R444H OGFR_uc002ydk.2_Missense_Mutation_p.R427H|OGFR_uc002ydl.2_Missense_Mutation_p.R392H|uc011aam.1_Silent_p.G115G NM_007346 NP_031372 Q9NZT2 OGFR_HUMAN opioid growth factor receptor 444 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity 0 Breast(26;3.65e-08) CAGCCCTGCCGCCAACCCCTG 0.687 5 40 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61527695 61527695 + Missense_Mutation SNP T C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:61527695T>C uc002ydr.1 - 8 2368 c.2104A>G c.(2104-2106)ATT>GTT p.I702V DIDO1_uc002yds.1_Missense_Mutation_p.I702V|DIDO1_uc002ydt.1_Missense_Mutation_p.I702V|DIDO1_uc002ydu.1_Missense_Mutation_p.I702V NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 702 TFIIS central. apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TGGAGGGCAATTTTTCCTACT 0.358 9 67 --- --- --- --- PASS KCNQ2 3785 broad.mit.edu 37 20 62038588 62038588 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:62038588G>T uc002yey.1 - 17 2205 c.2028C>A c.(2026-2028)AGC>AGA p.S676R KCNQ2_uc002yez.1_Missense_Mutation_p.S645R|KCNQ2_uc002yfa.1_Missense_Mutation_p.S658R|KCNQ2_uc002yfb.1_Missense_Mutation_p.S648R NM_172107 NP_742105 O43526 KCNQ2_HUMAN potassium voltage-gated channel KQT-like protein 676 Cytoplasmic (Potential). axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(38;1.24e-11) BRCA - Breast invasive adenocarcinoma(10;1.04e-05) Amitriptyline(DB00321) CATGCTCCCGGCTGTCTTCCG 0.572 27 14 --- --- --- --- PASS C20orf195 79025 broad.mit.edu 37 20 62187601 62187601 + Silent SNP C A A rs73598377 TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:62187601C>A uc002yfj.2 + 2 677 c.585C>A c.(583-585)ACC>ACA p.T195T C20orf195_uc002yfk.2_Silent_p.T195T NM_024059 NP_076964 Q9BVV2 CT195_HUMAN hypothetical protein LOC79025 195 0 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) TCAGTGCCACCAAGATCCCGC 0.642 121 57 --- --- --- --- PASS TPD52L2 7165 broad.mit.edu 37 20 62505156 62505156 + Nonsense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:62505156C>T uc002yhc.2 + 3 430 c.301C>T c.(301-303)CAG>TAG p.Q101* TPD52L2_uc002ygy.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002ygz.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002yha.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002yhb.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc002yhd.2_Nonsense_Mutation_p.Q101*|TPD52L2_uc011abk.1_Nonsense_Mutation_p.Q52*|TPD52L2_uc011abl.1_Nonsense_Mutation_p.Q78*|TPD52L2_uc002yhe.2_Silent_p.C3C NM_003288 NP_003279 O43399 TPD54_HUMAN tumor protein D52-like 2 isoform e 101 regulation of cell proliferation perinuclear region of cytoplasm protein binding|protein homodimerization activity ovary(1)|skin(1) 2 all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) GCATGACGTGCAGGTCTCTAG 0.667 5 14 --- --- --- --- PASS SOX18 54345 broad.mit.edu 37 20 62680665 62680665 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:62680665G>A uc002yhs.2 - 1 315 c.205C>T c.(205-207)CTC>TTC p.L69F NM_018419 NP_060889 P35713 SOX18_HUMAN SRY-box 18 69 angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis nucleus transcription regulatory region DNA binding 0 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GCCGGGCTGAGGCCATAgcgc 0.378 23 15 --- --- --- --- PASS PLAC4 191585 broad.mit.edu 37 21 42551398 42551398 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr21:42551398G>C uc002yyz.2 - 1 5769 c.158C>G c.(157-159)TCT>TGT p.S53C BACE2_uc002yyw.2_Intron|BACE2_uc002yyx.2_Intron|BACE2_uc002yyy.2_Intron NM_182832 NP_878252 Q8WY50 PLAC4_HUMAN placenta-specific 4 53 0 Prostate(19;2.29e-06) CCAGGGTGCAGAGTGAGGTGT 0.423 9 14 --- --- --- --- PASS KRTAP10-1 386677 broad.mit.edu 37 21 45959496 45959496 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr21:45959496G>T uc002zfh.1 - 1 583 c.538C>A c.(538-540)CAG>AAG p.Q180K C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 180 24 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 CAGGCCTGCTGGCAGGGGGAG 0.622 71 102 --- --- --- --- PASS MED15 51586 broad.mit.edu 37 22 20939445 20939445 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:20939445C>T uc002zsp.2 + 16 2102 c.2022C>T c.(2020-2022)ATC>ATT p.I674I MED15_uc002zsq.2_Silent_p.I634I|MED15_uc010gso.2_Silent_p.I617I|MED15_uc002zsr.2_Silent_p.I608I|MED15_uc011ahs.1_Silent_p.I608I|MED15_uc002zss.2_Silent_p.I553I|MED15_uc011ahu.1_Silent_p.I384I|MED15_uc002zst.2_Silent_p.I290I|MED15_uc002zsu.2_Silent_p.I279I NM_001003891 NP_001003891 Q96RN5 MED15_HUMAN mediator complex subunit 15 isoform a 674 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding skin(1) 1 all_cancers(11;2.07e-24)|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)|Epithelial(17;0.209) GGCAGAGCATCCCCAGTGTGC 0.637 7 46 --- --- --- --- PASS ZNF70 7621 broad.mit.edu 37 22 24086193 24086193 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:24086193G>C uc002zxs.2 - 2 1596 c.1135C>G c.(1135-1137)CTG>GTG p.L379V ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 379 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TGCTGGATCAGCGCAGAGCTG 0.587 37 41 --- --- --- --- PASS EIF3D 8664 broad.mit.edu 37 22 36907704 36907704 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:36907704G>A uc003apq.2 - 14 1595 c.1479C>T c.(1477-1479)TGC>TGT p.C493C EIF3D_uc011amr.1_Silent_p.C320C|EIF3D_uc003apr.2_Silent_p.C493C|EIF3D_uc011ams.1_Silent_p.C396C|EIF3D_uc011amt.1_Silent_p.C444C NM_003753 NP_003744 O15371 EIF3D_HUMAN eukaryotic translation initiation factor 3 493 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity pancreas(1) 1 TGTCAATGACGCAGCGTAAAA 0.552 OREG0026522 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 55 --- --- --- --- PASS PLA2G6 8398 broad.mit.edu 37 22 38512212 38512212 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:38512212C>G uc003auy.1 - 13 1885 c.1749G>C c.(1747-1749)ATG>ATC p.M583I PLA2G6_uc003auz.1_Missense_Mutation_p.M529I|PLA2G6_uc003ava.1_Missense_Mutation_p.M583I|PLA2G6_uc003avb.2_Missense_Mutation_p.M529I|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc003aux.1_5'Flank NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 583 cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) TCCCTGTCAGCATCACCCTGG 0.597 18 19 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46859807 46859807 + Missense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:46859807G>A uc003bhw.1 - 2 3980 c.3980C>T c.(3979-3981)TCC>TTC p.S1327F NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 1327 Extracellular (Potential).|EGF-like 1; calcium-binding. 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) GAAGGGCGCGGAGCTGTCGAA 0.662 5 31 --- --- --- --- PASS BRD1 23774 broad.mit.edu 37 22 50187932 50187932 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:50187932C>A uc003biv.2 - 6 2596 c.2109G>T c.(2107-2109)TTG>TTT p.L703F BRD1_uc011arf.1_Missense_Mutation_p.L298F|BRD1_uc011arg.1_Missense_Mutation_p.L752F|BRD1_uc011arh.1_Missense_Mutation_p.L703F|BRD1_uc003biu.3_Missense_Mutation_p.L703F NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 703 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CGGGGTCCAGCAACCTGTCCA 0.602 36 46 --- --- --- --- PASS SHANK3 85358 broad.mit.edu 37 22 51117572 51117572 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr22:51117572G>T uc003bne.1 + 6 726 c.726G>T c.(724-726)CAG>CAT p.Q242H NM_001080420 NP_001073889 F2Z3L0 F2Z3L0_HUMAN SH3 and multiple ankyrin repeat domains 3 242 central_nervous_system(1) 1 all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.22) ACCACGCTCAGCTGGGGATCA 0.667 5 5 --- --- --- --- PASS ASMTL 8623 broad.mit.edu 37 X 1554621 1554621 + Missense_Mutation SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:1554621C>T uc004cpx.1 - 4 415 c.304G>A c.(304-306)GTG>ATG p.V102M ASMTL_uc011mhe.1_Intron|ASMTL_uc004cpy.1_Missense_Mutation_p.V86M|ASMTL_uc011mhf.1_Missense_Mutation_p.V44M NM_004192 NP_004183 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 102 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase 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) TGCTTGTCCACCGGCTTCTCC 0.617 19 49 --- --- --- --- PASS CNKSR2 22866 broad.mit.edu 37 X 21609200 21609200 + Missense_Mutation SNP G C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:21609200G>C uc004czx.1 + 15 1754 c.1718G>C c.(1717-1719)TGT>TCT p.C573S CNKSR2_uc004czw.2_Missense_Mutation_p.C573S|CNKSR2_uc011mjn.1_Missense_Mutation_p.C524S|CNKSR2_uc011mjo.1_Missense_Mutation_p.C543S|CNKSR2_uc004czy.2_Missense_Mutation_p.C165S NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 573 PH. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 CGTGGTGACTGTGAGGGCTGG 0.398 70 58 --- --- --- --- PASS DCAF8L1 139425 broad.mit.edu 37 X 27999094 27999094 + Missense_Mutation SNP A T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:27999094A>T uc004dbx.1 - 1 473 c.358T>A c.(358-360)TGT>AGT p.C120S NM_001017930 NP_001017930 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 120 ovary(3)|skin(1) 4 CATCGTGGACACATCCGAGGC 0.413 20 16 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29973346 29973346 + Silent SNP T A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:29973346T>A uc004dby.2 + 11 2008 c.1500T>A c.(1498-1500)CTT>CTA p.L500L NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 500 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 GAAATATGCTTGTGACTGGAG 0.443 43 22 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37965892 37965892 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:37965892A>G uc004ddu.2 + 12 1736 c.1202A>G c.(1201-1203)TAT>TGT p.Y401C SYTL5_uc004ddv.2_Missense_Mutation_p.Y401C|SYTL5_uc004ddx.2_Missense_Mutation_p.Y423C NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 401 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 ACGGGAGACTATGGCAACGTG 0.423 3 53 --- --- --- --- PASS RPGR 6103 broad.mit.edu 37 X 38164003 38164003 + Missense_Mutation SNP C A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:38164003C>A uc004ded.1 - 8 987 c.819G>T c.(817-819)CAG>CAT p.Q273H RPGR_uc004deb.2_Missense_Mutation_p.Q273H|RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA|RPGR_uc004dee.1_5'UTR NM_001034853 NP_001030025 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform C 273 RCC1 5. intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 CAAGACCCAGCTGACCAAATT 0.388 14 6 --- --- --- --- PASS RIBC1 158787 broad.mit.edu 37 X 53455274 53455274 + Silent SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:53455274G>A uc004dsk.2 + 5 396 c.243G>A c.(241-243)GAG>GAA p.E81E RIBC1_uc004dsj.1_Silent_p.E81E|RIBC1_uc011mog.1_Intron NM_001031745 NP_001026915 Q8N443 RIBC1_HUMAN RIB43A domain with coiled-coils 1 isoform 1 81 0 AGATGTTAGAGAAGGAAGAGG 0.532 20 43 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73042695 73042695 + RNA SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:73042695C>T uc004ebn.2 + 1 c.30656C>T XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 TCCTTAGTATCGAACATATCA 0.348 27 17 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91090520 91090520 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:91090520G>T uc004efk.1 + 1 862 c.17G>T c.(16-18)GGG>GTG p.G6V PCDH11X_uc004efl.1_Missense_Mutation_p.G6V|PCDH11X_uc004efo.1_Missense_Mutation_p.G6V|PCDH11X_uc010nmv.1_Missense_Mutation_p.G6V|PCDH11X_uc004efm.1_Missense_Mutation_p.G6V|PCDH11X_uc004efn.1_Missense_Mutation_p.G6V|PCDH11X_uc004efh.1_Missense_Mutation_p.G6V|PCDH11X_uc004efj.1_Missense_Mutation_p.G6V NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 6 homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TTGTTGTCCGGGACGTACATT 0.483 47 31 --- --- --- --- PASS MORF4L2 9643 broad.mit.edu 37 X 102931868 102931868 + Nonsense_Mutation SNP G A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:102931868G>A uc004ekw.2 - 4 1320 c.88C>T c.(88-90)CAG>TAG p.Q30* MORF4L2_uc004ela.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004ekx.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004elb.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004eky.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc010nos.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004ekz.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc011mry.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011mrz.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc004elc.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004elf.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc004ele.2_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msa.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msb.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msc.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc011msd.1_Nonsense_Mutation_p.Q30*|MORF4L2_uc004eld.2_Nonsense_Mutation_p.Q30* NM_012286 NP_036418 Q15014 MO4L2_HUMAN mortality factor 4 like 2 30 chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent nucleolus protein binding 0 TTACTTCTCTGCATGTTGCTT 0.478 5 119 --- --- --- --- PASS PRPS1 5631 broad.mit.edu 37 X 106888416 106888416 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:106888416C>T uc004ene.3 + 5 745 c.540C>T c.(538-540)TCC>TCT p.S180S PRPS1_uc010npg.2_Silent_p.S147S|PRPS1_uc011msj.1_5'UTR NM_002764 NP_002755 P60891 PRPS1_HUMAN phosphoribosyl pyrophosphate synthetase 1 180 5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process cytosol ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(3)|large_intestine(1) 4 GAGTGACCTCCATTGCAGACA 0.393 67 116 --- --- --- --- PASS DOCK11 139818 broad.mit.edu 37 X 117809915 117809915 + Missense_Mutation SNP A G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:117809915A>G uc004eqp.2 + 47 5279 c.5216A>G c.(5215-5217)TAT>TGT p.Y1739C DOCK11_uc004eqq.2_Missense_Mutation_p.Y1518C NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1739 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 ACTCAAGTTTATAGAACTCTT 0.289 22 11 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122537353 122537353 + Missense_Mutation SNP G T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:122537353G>T uc004etq.3 + 10 1569 c.1276G>T c.(1276-1278)GTA>TTA p.V426L GRIA3_uc004etr.3_Missense_Mutation_p.V426L|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.V410L NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 426 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) TCGGACCATAGTAGTGACTAC 0.438 96 47 --- --- --- --- PASS AFF2 2334 broad.mit.edu 37 X 147743938 147743938 + Missense_Mutation SNP C G G TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrX:147743938C>G uc004fcp.2 + 3 1169 c.690C>G c.(688-690)TTC>TTG p.F230L AFF2_uc004fco.2_Missense_Mutation_p.F226L|AFF2_uc004fcq.2_Missense_Mutation_p.F226L|AFF2_uc004fcr.2_Missense_Mutation_p.F226L|AFF2_uc011mxb.1_Missense_Mutation_p.F230L|AFF2_uc004fcs.2_Missense_Mutation_p.F226L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 230 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) AAGATGCTTTCAAAGAAATCT 0.468 115 65 --- --- --- --- PASS PCDH11Y 83259 broad.mit.edu 37 Y 5605740 5605740 + Silent SNP C T T TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chrY:5605740C>T uc004fqo.2 + 5 4514 c.3780C>T c.(3778-3780)CTC>CTT p.L1260L NM_032973 NP_116755 Q9BZA8 PC11Y_HUMAN protocadherin 11 Y-linked isoform c 1260 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 TTATTGCCCTCCATCGTAGTC 0.547 70 119 --- --- --- --- PASS RMND5A 64795 broad.mit.edu 37 2 88025476 88025476 + Frame_Shift_Del DEL A - - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr2:88025476delA uc002srs.3 + 6 1196 c.301delA c.(301-303)ACAfs p.T101fs Q9H871 RMD5A_HUMAN SubName: Full=cDNA FLJ10361 fis, clone NT2RM2001256, highly similar to Anaphase-promoting complex subunit 1; Error:Variant_position_missing_in_Q9H871_after_alignment ovary(1)|skin(1) 2 TCCTCGGAACACAACAGTAGA 0.453 12 6 --- --- --- --- PGM2 55276 broad.mit.edu 37 4 37851992 37851992 + Frame_Shift_Del DEL G - - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:37851992delG uc011byb.1 + 12 1673 c.1600delG c.(1600-1602)GCTfs p.A534fs PGM2_uc011byc.1_Frame_Shift_Del_p.A374fs NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 534 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 TGATAAAAAAGCTGTAAGTAA 0.289 14 8 --- --- --- --- KDR 3791 broad.mit.edu 37 4 55974019 55974019 + Frame_Shift_Del DEL C - - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:55974019delC uc003has.2 - 10 1599 c.1297delG c.(1297-1299)GATfs p.D433fs KDR_uc003hat.1_Frame_Shift_Del_p.D433fs|KDR_uc011bzx.1_Frame_Shift_Del_p.D433fs NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 433 Ig-like C2-type 5.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TGGTAGGAATCCACAGGAGAG 0.473 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 56 51 --- --- --- --- C4orf29 80167 broad.mit.edu 37 4 128938586 128938587 + Frame_Shift_Del DEL CT - - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr4:128938586_128938587delCT uc003ifr.2 + 9 857_858 c.539_540delCT c.(538-540)GCTfs p.A180fs C4orf29_uc003ifs.2_Frame_Shift_Del_p.A74fs|C4orf29_uc003ift.2_Frame_Shift_Del_p.A11fs|C4orf29_uc003ifu.2_Frame_Shift_Del_p.A11fs|C4orf29_uc010inz.2_Intron|C4orf29_uc003ifv.2_Frame_Shift_Del_p.A11fs NM_001039717 NP_001034806 Q0P651 CD029_HUMAN hypothetical protein LOC80167 precursor 180 extracellular region ovary(1) 1 GAATCTGCAGCTCTCTTGCACT 0.411 13 27 --- --- --- --- PCDHA2 56146 broad.mit.edu 37 5 140176148 140176148 + Frame_Shift_Del DEL C - - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr5:140176148delC uc003lhd.2 + 1 1705 c.1599delC c.(1597-1599)TTCfs p.F533fs PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhc.1_Frame_Shift_Del_p.F533fs|PCDHA2_uc011czy.1_Frame_Shift_Del_p.F533fs NM_018905 NP_061728 Q9Y5H9 PCDA2_HUMAN protocadherin alpha 2 isoform 1 precursor 533 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGCAGTTCCAGGTGAGCG 0.677 54 40 --- --- --- --- RIMBP2 23504 broad.mit.edu 37 12 130912803 130912805 + In_Frame_Del DEL TCG - - TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr12:130912803_130912805delTCG uc001uil.2 - 12 2444_2446 c.2280_2282delCGA c.(2278-2283)GACGAG>GAG p.D760del NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 760 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) CAGCTCCTCCTCGTCCTCCTCCA 0.616 50 22 --- --- --- --- DNAH9 1770 broad.mit.edu 37 17 11520921 11520922 + Frame_Shift_Ins INS - A A TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr17:11520921_11520922insA uc002gne.2 + 5 1166_1167 c.1098_1099insA c.(1096-1101)TGCAACfs p.C366fs NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 366_367 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) AGGAGATTTGCAACCTTCTCAT 0.609 40 18 --- --- --- --- PSG9 5678 broad.mit.edu 37 19 43763205 43763206 + Frame_Shift_Ins INS - C C TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr19:43763205_43763206insC uc002owd.3 - 4 890_891 c.791_792insG c.(790-792)CCTfs p.P264fs PSG9_uc002owe.3_Intron|PSG9_uc010xwm.1_Frame_Shift_Ins_p.P171fs|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Intron|PSG9_uc002owh.2_Intron NM_002784 NP_002775 Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 264 Ig-like C2-type 2. female pregnancy extracellular region ovary(1)|skin(1) 2 Prostate(69;0.00682) TCTCACTCTTAGGTTCACAGGT 0.495 170 140 --- --- --- --- FAM83D 81610 broad.mit.edu 37 20 37555322 37555323 + In_Frame_Ins INS - GCG GCG TCGA-85-6560-01A-11D-1817-08 TCGA-85-6560-10A-01D-1817-08 Somatic Phase_I Capture Illumina GAIIx a5a156b8-2c8a-4ed0-8bae-b60cdc95698f c8421b8a-09f9-4107-a899-d3bd3ca78b71 g.chr20:37555322_37555323insGCG uc002xjg.2 + 1 368_369 c.327_328insGCG c.(325-330)insGCG p.116_117insA FAM83D_uc002xjf.2_In_Frame_Ins_p.116_117insA NM_030919 NP_112181 Q9H4H8 FA83D_HUMAN hypothetical protein LOC81610 86_87 cell division|mitosis cytoplasm|spindle pole ovary(3) 3 Myeloproliferative disorder(115;0.00878) GAGAGGAGGGCgcggcggcggc 0.619 3 3 --- --- --- ---