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 MED18 54797 broad.mit.edu 37 1 28660972 28660972 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:28660972C>T uc001bpt.3 + 3 363 c.118C>T c.(118-120)CGT>TGT p.R40C MED18_uc009vtg.2_Missense_Mutation_p.R40C NM_017638 NP_060108 Q9BUE0 MED18_HUMAN mediator complex subunit 18 40 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex identical protein binding 0 Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113) OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649) CCACCGCCTTCGTGGTTTGTG 0.478 125 329 --- --- --- --- PASS GRIK3 2899 broad.mit.edu 37 1 37346432 37346432 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:37346432G>T uc001caz.2 - 3 488 c.353C>A c.(352-354)ACC>AAC p.T118N GRIK3_uc001cba.1_Missense_Mutation_p.T118N NM_000831 NP_000822 Q13003 GRIK3_HUMAN glutamate receptor, ionotropic, kainate 3 118 Extracellular (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 p.T118T(1) ovary(3)|skin(2)|large_intestine(1)|breast(1) 7 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GACGGCATTGGTGCAGGAGCC 0.627 19 50 --- --- --- --- PASS INPP5B 3633 broad.mit.edu 37 1 38397681 38397681 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:38397681G>C uc001ccg.1 - 7 530 c.436C>G c.(436-438)CGG>GGG p.R146G INPP5B_uc009vvk.1_Missense_Mutation_p.R87G|INPP5B_uc001cch.2_Missense_Mutation_p.R87G|INPP5B_uc001ccf.1_5'Flank NM_005540 NP_005531 P32019 I5P2_HUMAN inositol polyphosphate-5-phosphatase, 75kDa 146 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to membrane|microtubule cytoskeleton GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding urinary_tract(1) 1 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255) CACCTATACCGAGACAGCCAC 0.612 5 69 --- --- --- --- PASS SMAP2 64744 broad.mit.edu 37 1 40882625 40882625 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:40882625G>T uc001cfj.2 + 9 1086 c.1021G>T c.(1021-1023)GGT>TGT p.G341C SMAP2_uc001cfk.2_Missense_Mutation_p.G311C|SMAP2_uc010oji.1_Missense_Mutation_p.G258C|SMAP2_uc010ojj.1_Missense_Mutation_p.G157C NM_022733 NP_073570 Q8WU79 SMAP2_HUMAN small ArfGAP2 341 Interaction with PICALM (By similarity).|Met-rich. regulation of ARF GTPase activity cytoplasm|nucleus ARF GTPase activator activity|zinc ion binding 0 Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.04e-17) AGGCTATATGGGTGGCATGCA 0.577 21 100 --- --- --- --- PASS ZMYND12 84217 broad.mit.edu 37 1 42896432 42896432 + Missense_Mutation SNP G A A rs143931631 byFrequency TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:42896432G>A uc001chj.2 - 8 1343 c.1073C>T c.(1072-1074)TCA>TTA p.S358L ZMYND12_uc010ojt.1_Missense_Mutation_p.S248L NM_032257 NP_115633 Q9H0C1 ZMY12_HUMAN zinc finger, MYND-type containing 12 isoform 1 358 intracellular zinc ion binding ovary(1) 1 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GTCTTCAGTTGAAATGAGACT 0.453 59 216 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52703393 52703393 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:52703393A>G uc001cto.2 + 4 476 c.304A>G c.(304-306)ACA>GCA p.T102A ZFYVE9_uc001ctn.2_Missense_Mutation_p.T102A|ZFYVE9_uc001ctp.2_Missense_Mutation_p.T102A NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 102 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 AGAGATTGCCACAATGTGGAT 0.438 42 136 --- --- --- --- PASS KANK4 163782 broad.mit.edu 37 1 62740491 62740491 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:62740491C>A uc001dah.3 - 3 662 c.285G>T c.(283-285)GTG>GTT p.V95V KANK4_uc001dai.3_Intron|KANK4_uc001dag.3_5'Flank NM_181712 NP_859063 Q5T7N3 KANK4_HUMAN ankyrin repeat domain 38 95 ovary(3)|skin(2)|lung(1) 6 CCTCCCTTGGCACCACGGGAG 0.607 4 181 --- --- --- --- PASS LEPROT 54741 broad.mit.edu 37 1 65895721 65895721 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:65895721G>A uc001dcf.2 + 3 358 c.269G>A c.(268-270)CGT>CAT p.R90H LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Missense_Mutation_p.R99H NM_017526 NP_059996 O15243 OBRG_HUMAN leptin receptor gene-related protein 90 endosome membrane|Golgi membrane|integral to plasma membrane 0 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) ATTCTTGCTCGTGTGGCTGTG 0.433 106 514 --- --- --- --- PASS LRRC7 57554 broad.mit.edu 37 1 70505002 70505002 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:70505002G>T uc001dep.2 + 19 3411 c.3381G>T c.(3379-3381)ATG>ATT p.M1127I LRRC7_uc009wbg.2_Missense_Mutation_p.M411I|LRRC7_uc001deq.2_Missense_Mutation_p.M368I NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1127 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AAATGGCCATGTTTAGAAGGG 0.587 54 229 --- --- --- --- PASS ST6GALNAC3 256435 broad.mit.edu 37 1 76779598 76779598 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:76779598C>T uc001dhh.2 + 2 290 c.127C>T c.(127-129)CCT>TCT p.P43S ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.P43S|ST6GALNAC3_uc010orh.1_Intron NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 43 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 CTTTGGACAACCTGGTACAAA 0.448 6 181 --- --- --- --- PASS ELTD1 64123 broad.mit.edu 37 1 79387437 79387437 + Nonsense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:79387437C>T uc001diq.3 - 9 1274 c.1118G>A c.(1117-1119)TGG>TAG p.W373* NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 373 GPS.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TGAGTAATTCCAAAATGCACA 0.398 19 103 --- --- --- --- PASS VCAM1 7412 broad.mit.edu 37 1 101186048 101186048 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:101186048C>G uc001dti.2 + 2 201 c.81C>G c.(79-81)ATC>ATG p.I27M VCAM1_uc001dtj.2_Missense_Mutation_p.I27M|VCAM1_uc010ouj.1_Missense_Mutation_p.I27M NM_001078 NP_001069 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 isoform a 27 Ig-like C2-type 1.|Extracellular (Potential). heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(1) 1 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTTTTAAAATCGAGACCACCC 0.408 50 214 --- --- --- --- PASS OLFM3 118427 broad.mit.edu 37 1 102296361 102296361 + Missense_Mutation SNP A T T rs150051854 byFrequency TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:102296361A>T uc001duf.2 - 3 370 c.299T>A c.(298-300)ATT>AAT p.I100N OLFM3_uc001dug.2_Missense_Mutation_p.I80N|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_Missense_Mutation_p.I5N|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 100 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TAAGACTTCAATAGACTGGGA 0.353 31 135 --- --- --- --- PASS CASQ2 845 broad.mit.edu 37 1 116244008 116244008 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:116244008G>T uc001efx.3 - 11 1318 c.1054C>A c.(1054-1056)CTT>ATT p.L352I CASQ2_uc010owu.1_Missense_Mutation_p.L281I NM_001232 NP_001223 O14958 CASQ2_HUMAN cardiac calsequestrin 2 precursor 352 heart development|striated muscle contraction sarcoplasmic reticulum lumen calcium ion binding skin(1) 1 Lung SC(450;0.211) all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) GCAGTTGGAAGATCGTCATCA 0.398 14 112 --- --- --- --- PASS HRNR 388697 broad.mit.edu 37 1 152187662 152187662 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:152187662C>A uc001ezt.1 - 3 6519 c.6443G>T c.(6442-6444)CGA>CTA p.R2148L NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 2148 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) AGATCCGTGTCGTTCACCCCT 0.587 30 696 --- --- --- --- PASS FCRL1 115350 broad.mit.edu 37 1 157772324 157772324 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:157772324C>A uc001frg.2 - 4 563 c.450G>T c.(448-450)GGG>GGT p.G150G FCRL1_uc001frf.2_5'Flank|FCRL1_uc001frh.2_Silent_p.G150G|FCRL1_uc001fri.2_Silent_p.G150G|FCRL1_uc001frj.2_Intron NM_052938 NP_443170 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 isoform 1 precursor 150 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity skin(4)|ovary(3) 7 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) AACCTACAGCCCCTTTGTACC 0.517 40 107 --- --- --- --- PASS PVRL4 81607 broad.mit.edu 37 1 161049520 161049520 + Missense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:161049520T>A uc001fxo.2 - 2 598 c.299A>T c.(298-300)CAG>CTG p.Q100L NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 100 Ig-like V-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGGCGGCGGCTGCTCCACGCG 0.692 13 25 --- --- --- --- PASS FAM5C 339479 broad.mit.edu 37 1 190203572 190203572 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:190203572A>T uc001gse.1 - 5 886 c.654T>A c.(652-654)AGT>AGA p.S218R FAM5C_uc010pot.1_Missense_Mutation_p.S116R NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 218 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) TGTCATAGTTACTGCAGCCAA 0.373 43 110 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390731 197390731 + Nonsense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:197390731C>A uc001gtz.2 + 6 1908 c.1773C>A c.(1771-1773)TGC>TGA p.C591* CRB1_uc010poz.1_Nonsense_Mutation_p.C522*|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Nonsense_Mutation_p.C479*|CRB1_uc010ppb.1_Nonsense_Mutation_p.C591*|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Nonsense_Mutation_p.C72*|CRB1_uc001gub.1_Nonsense_Mutation_p.C240* NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 591 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGGAGAAATGCATCGCGAAAG 0.463 11 229 --- --- --- --- PASS IRF6 3664 broad.mit.edu 37 1 209969720 209969720 + Nonsense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:209969720G>A uc001hhq.1 - 4 615 c.352C>T c.(352-354)CAG>TAG p.Q118* IRF6_uc010psm.1_Nonsense_Mutation_p.Q23*|IRF6_uc009xct.1_Nonsense_Mutation_p.Q118* NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 118 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CCCTGGGGCTGAGGGATGTCA 0.522 HNSCC(57;0.16) 29 85 --- --- --- --- PASS B3GALNT2 148789 broad.mit.edu 37 1 235617588 235617588 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:235617588C>G uc001hxc.2 - 10 1420 c.1191G>C c.(1189-1191)TGG>TGC p.W397C NM_152490 NP_689703 Q8NCR0 B3GL2_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 2 397 Lumenal (Potential). protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity breast(1) 1 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) CCAACTCCTGCCACTTTCCGG 0.498 8 107 --- --- --- --- PASS ZNF496 84838 broad.mit.edu 37 1 247471832 247471832 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:247471832C>A uc001ico.2 - 8 1416 c.951G>T c.(949-951)CAG>CAT p.Q317H ZNF496_uc009xgv.2_Missense_Mutation_p.Q353H|ZNF496_uc001icp.2_Missense_Mutation_p.Q317H|ZNF496_uc001icq.1_Missense_Mutation_p.Q92H NM_032752 NP_116141 Q96IT1 ZN496_HUMAN zinc finger protein 496 317 positive regulation of transcription, DNA-dependent|viral reproduction DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) OV - Ovarian serous cystadenocarcinoma(106;0.00703) ACTCTGGCACCTGCAGCTCCT 0.488 90 241 --- --- --- --- PASS OR2G2 81470 broad.mit.edu 37 1 247752411 247752411 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:247752411G>A uc010pyy.1 + 1 750 c.750G>A c.(748-750)GTG>GTA p.V250V NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 250 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) ACCTGacagtggtcaccatct 0.408 15 177 --- --- --- --- PASS OR2L3 391192 broad.mit.edu 37 1 248224406 248224406 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr1:248224406G>T uc001idx.1 + 1 423 c.423G>T c.(421-423)GTG>GTT p.V141V OR2L13_uc001ids.2_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, 141 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GAATGTGTGTGCTGATGATAA 0.438 86 272 --- --- --- --- PASS ADCY3 109 broad.mit.edu 37 2 25061400 25061400 + Nonsense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:25061400C>A uc002rfs.3 - 7 1646 c.1447G>T c.(1447-1449)GAA>TAA p.E483* ADCY3_uc002rfr.3_Nonsense_Mutation_p.E116*|ADCY3_uc010ykm.1_Nonsense_Mutation_p.E483* NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 483 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) CCCTTCTCTTCTAGGTAATCA 0.532 51 243 --- --- --- --- PASS C2orf39 92749 broad.mit.edu 37 2 26654794 26654794 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:26654794G>C uc002rhg.2 + 7 882 c.808G>C c.(808-810)GAG>CAG p.E270Q C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 270 Potential. 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGAGGACTATGAGAAGCAGCT 0.493 50 164 --- --- --- --- PASS ABCG5 64240 broad.mit.edu 37 2 44051083 44051083 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:44051083C>A uc002rtn.2 - 9 1433 c.1293G>T c.(1291-1293)CCG>CCT p.P431P ABCG5_uc002rtm.2_Silent_p.P36P|ABCG5_uc002rto.2_Silent_p.P260P|ABCG5_uc002rtp.2_Silent_p.P36P NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 431 Helical; Name=2; (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGCCTGTGTACGGGGTGGCGC 0.537 15 115 --- --- --- --- PASS MPHOSPH10 10199 broad.mit.edu 37 2 71360216 71360216 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:71360216A>G uc002sht.1 + 2 630 c.278A>G c.(277-279)AAT>AGT p.N93S MCEE_uc002shs.2_5'Flank|MPHOSPH10_uc010feb.1_Missense_Mutation_p.N93S NM_005791 NP_005782 O00566 MPP10_HUMAN M-phase phosphoprotein 10 93 RNA splicing, via transesterification reactions|rRNA processing chromosome|nucleolus|small nucleolar ribonucleoprotein complex protein binding skin(2)|ovary(1) 3 TACTTTCAGAATGCAGTTAGT 0.383 11 75 --- --- --- --- PASS REV1 51455 broad.mit.edu 37 2 100019492 100019492 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:100019492A>G uc002tad.2 - 20 3456 c.3244T>C c.(3244-3246)TCA>CCA p.S1082P REV1_uc002tac.2_Missense_Mutation_p.S1081P NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 1082 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 CTTTTTGGTGAACCAATGGtt 0.373 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 11 116 --- --- --- --- PASS MAP4K4 9448 broad.mit.edu 37 2 102460737 102460737 + Silent SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:102460737T>A uc002tbg.2 + 12 1252 c.1197T>A c.(1195-1197)ATT>ATA p.I399I MAP4K4_uc002tbc.2_Silent_p.I399I|MAP4K4_uc002tbd.2_Silent_p.I399I|MAP4K4_uc002tbe.2_Silent_p.I399I|MAP4K4_uc002tbf.2_Silent_p.I399I|MAP4K4_uc010yvy.1_Silent_p.I399I|MAP4K4_uc002tbh.2_Silent_p.I399I|MAP4K4_uc002tbi.2_Silent_p.I252I|MAP4K4_uc010yvz.1_Silent_p.I379I|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Silent_p.I295I NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 399 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AGAAGCGGATTGAGCAGCAGA 0.478 4 17 --- --- --- --- PASS IL1RL1 9173 broad.mit.edu 37 2 102968370 102968370 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:102968370C>G uc002tbu.1 + 11 1931 c.1660C>G c.(1660-1662)CAG>GAG p.Q554E IL18R1_uc002tbw.3_Intron NM_016232 NP_057316 Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 isoform 1 554 Cytoplasmic (Potential). innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity skin(2)|ovary(1)|central_nervous_system(1) 4 CTTGGCTGCCCAGAAGCAATA 0.498 12 96 --- --- --- --- PASS PDE11A 50940 broad.mit.edu 37 2 178936561 178936561 + Missense_Mutation SNP G T T rs77063376 by1000genomes TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:178936561G>T uc002ulq.2 - 1 922 c.604C>A c.(604-606)CGT>AGT p.R202S PDE11A_uc002ulr.2_Intron|PDE11A_uc002ult.1_Intron NM_016953 NP_058649 Q9HCR9 PDE11_HUMAN phosphodiesterase 11A isoform 4 202 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) AAGAACTGACGCTCATTATGC 0.478 Primary_Pigmented_Nodular_Adrenocortical_Disease_Familial 35 240 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179576701 179576701 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:179576701C>A uc010zfg.1 - 93 24348 c.24124G>T c.(24124-24126)GTT>TTT p.V8042F TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V4703F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 8969 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) GATGCAGAAACTTCTCCCACG 0.353 37 132 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179640549 179640549 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:179640549G>T uc010zfg.1 - 28 6266 c.6042C>A c.(6040-6042)ACC>ACA p.T2014T TTN_uc010zfh.1_Silent_p.T1968T|TTN_uc010zfi.1_Silent_p.T1968T|TTN_uc010zfj.1_Silent_p.T1968T|TTN_uc002unb.2_Silent_p.T2014T|uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 2014 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) GCTCCACAGCGGTAATGGCTT 0.458 78 259 --- --- --- --- PASS PGAP1 80055 broad.mit.edu 37 2 197706014 197706014 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:197706014G>T uc002utw.2 - 27 2827 c.2713C>A c.(2713-2715)CTT>ATT p.L905I PGAP1_uc002utx.2_Missense_Mutation_p.L731I|PGAP1_uc010fsi.2_Missense_Mutation_p.L144I NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 905 Helical; (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 AAGCATGGAAGCCTATATAAA 0.368 14 72 --- --- --- --- PASS CLK1 1195 broad.mit.edu 37 2 201724413 201724413 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:201724413C>A uc002uwe.2 - 5 719 c.538G>T c.(538-540)GAT>TAT p.D180Y CLK1_uc002uwd.2_5'Flank|CLK1_uc010zhi.1_Missense_Mutation_p.D222Y|CLK1_uc002uwf.2_5'UTR|CLK1_uc002uwg.2_Missense_Mutation_p.D29Y|CLK1_uc010fsv.2_RNA NM_004071 NP_004062 P49759 CLK1_HUMAN CDC-like kinase 1 isoform 1 180 Protein kinase. cell proliferation nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity pancreas(2) 2 GCTTTATGATCGATGCACTCC 0.363 17 108 --- --- --- --- PASS ERBB4 2066 broad.mit.edu 37 2 212652768 212652768 + Missense_Mutation SNP T C C rs78887537 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:212652768T>C uc002veg.1 - 4 636 c.538A>G c.(538-540)ACA>GCA p.T180A ERBB4_uc002veh.1_Missense_Mutation_p.T180A|ERBB4_uc010zji.1_Missense_Mutation_p.T180A|ERBB4_uc010zjj.1_Missense_Mutation_p.T180A|ERBB4_uc010fut.1_Missense_Mutation_p.T180A NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 180 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CTACCATTTGTTGACACAAGA 0.363 TSP Lung(8;0.080) 21 109 --- --- --- --- PASS PECR 55825 broad.mit.edu 37 2 216930136 216930136 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:216930136C>T uc002vft.2 - 3 391 c.323G>A c.(322-324)GGA>GAA p.G108E PECR_uc010zjq.1_RNA|PECR_uc002vfr.2_5'UTR|PECR_uc002vfs.2_5'UTR|PECR_uc002vfu.1_Missense_Mutation_p.G127E NM_018441 NP_060911 Q9BY49 PECR_HUMAN peroxisomal trans-2-enoyl-CoA reductase 108 fatty acid biosynthetic process|regulation of apoptosis peroxisome binding|trans-2-enoyl-CoA reductase (NADPH) activity 0 Renal(323;0.0327) Epithelial(149;3.8e-06)|all cancers(144;0.000272)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Adenine(DB00173) CTGGCCTCCTCCATTGTTCAC 0.418 24 177 --- --- --- --- PASS GIGYF2 26058 broad.mit.edu 37 2 233677120 233677120 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:233677120A>T uc002vti.3 + 20 2363 c.2026A>T c.(2026-2028)ATT>TTT p.I676F GIGYF2_uc010zmj.1_Missense_Mutation_p.I676F|GIGYF2_uc002vtg.2_Missense_Mutation_p.I670F|GIGYF2_uc002vtj.3_Missense_Mutation_p.I697F|GIGYF2_uc002vtk.3_Missense_Mutation_p.I676F|GIGYF2_uc002vth.3_Missense_Mutation_p.I670F|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.I507F|GIGYF2_uc002vtq.3_Missense_Mutation_p.I9F NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 676 Gln-rich. cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TCAGAACATCATTCCCTCAGT 0.378 20 67 --- --- --- --- PASS UGT1A8 54576 broad.mit.edu 37 2 234526363 234526363 + Missense_Mutation SNP A G G rs150485330 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr2:234526363A>G uc002vup.2 + 1 73 c.10A>G c.(10-12)ACA>GCA p.T4A UGT1A8_uc010zmv.1_Missense_Mutation_p.T4A NM_019076 NP_061949 Q9HAW9 UD18_HUMAN UDP glycosyltransferase 1 family, polypeptide A8 4 drug metabolic process|fatty acid metabolic process|flavone metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme inhibitor activity|fatty acid binding|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|steroid binding ovary(2) 2 Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128) Epithelial(121;2.56e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000482)|Lung(119;0.00404)|LUSC - Lung squamous cell carcinoma(224;0.008) CATGGCTCGCACAGGGTGGAC 0.562 3 78 --- --- --- --- PASS ATG7 10533 broad.mit.edu 37 3 11340856 11340856 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:11340856G>T uc003bwc.2 + 3 298 c.181G>T c.(181-183)GCT>TCT p.A61S ATG7_uc003bwd.2_Missense_Mutation_p.A61S|ATG7_uc011aum.1_Missense_Mutation_p.A61S NM_006395 NP_006386 O95352 ATG7_HUMAN APG7 autophagy 7-like isoform a 61 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1) 1 TGGGCTGCCAGCTCGCTTAAC 0.368 49 175 --- --- --- --- PASS ARPP21 10777 broad.mit.edu 37 3 35835355 35835355 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:35835355C>T uc003cgb.2 + 20 2608 c.2344C>T c.(2344-2346)CCA>TCA p.P782S ARPP21_uc003cga.2_Missense_Mutation_p.P763S|ARPP21_uc011axy.1_Missense_Mutation_p.P783S|ARPP21_uc003cgf.2_Missense_Mutation_p.P618S|ARPP21_uc003cgg.2_Missense_Mutation_p.P305S NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 782 cytoplasm nucleic acid binding ovary(2)|skin(1) 3 GCTGATTGGCCCACACTGCCC 0.537 29 101 --- --- --- --- PASS CCDC36 339834 broad.mit.edu 37 3 49294148 49294148 + Silent SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:49294148T>C uc003cwk.2 + 10 1605 c.1218T>C c.(1216-1218)AAT>AAC p.N406N CCDC36_uc011bck.1_Silent_p.N406N NM_178173 NP_835467 Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 406 ovary(1)|kidney(1) 2 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) GCATTAAGAATGCCTGCCAAA 0.458 34 120 --- --- --- --- PASS ARHGEF3 50650 broad.mit.edu 37 3 56763415 56763415 + Silent SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:56763415T>C uc003dig.2 - 10 1633 c.1464A>G c.(1462-1464)CAA>CAG p.Q488Q ARHGEF3_uc011bew.1_Silent_p.Q488Q|ARHGEF3_uc003dih.2_Silent_p.Q520Q|ARHGEF3_uc011bev.1_Silent_p.Q459Q|ARHGEF3_uc003dif.2_Silent_p.Q494Q|ARHGEF3_uc010hmy.1_Silent_p.Q286Q NM_019555 NP_062455 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor 3 isoform 488 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) CACTGTCCGATTGGTCCATCT 0.557 30 119 --- --- --- --- PASS SHQ1 55164 broad.mit.edu 37 3 72799702 72799702 + Missense_Mutation SNP A C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:72799702A>C uc003dpf.2 - 11 1574 c.1467T>G c.(1465-1467)AGT>AGG p.S489R SHQ1_uc010hod.2_Missense_Mutation_p.S400R NM_018130 NP_060600 Q6PI26 SHQ1_HUMAN SHQ1 homolog 489 Ser-rich. ribonucleoprotein complex assembly cytosol|nucleoplasm protein binding ovary(2)|large_intestine(1) 3 Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204) BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213) CTTGCAAAGAACTGACTGTCT 0.473 13 159 --- --- --- --- PASS MIR1324 100302212 broad.mit.edu 37 3 75679975 75679975 + RNA SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:75679975C>A hsa-mir-1324|MI0006657 + c.62C>A 0 CTCTGGGTACCAGACAGAATT 0.507 6 128 --- --- --- --- PASS DZIP3 9666 broad.mit.edu 37 3 108363259 108363259 + Nonsense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:108363259C>T uc003dxd.2 + 14 1812 c.1390C>T c.(1390-1392)CAG>TAG p.Q464* DZIP3_uc003dxf.1_Nonsense_Mutation_p.Q464*|DZIP3_uc011bhm.1_Intron|DZIP3_uc003dxe.1_Nonsense_Mutation_p.Q464*|DZIP3_uc003dxg.1_Nonsense_Mutation_p.Q187* NM_014648 NP_055463 Q86Y13 DZIP3_HUMAN DAZ interacting protein 3, zinc finger 464 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCAATCCAAACAGTTTGACTT 0.428 29 269 --- --- --- --- PASS CD80 941 broad.mit.edu 37 3 119256055 119256055 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:119256055G>C uc003ecq.2 - 4 1024 c.629C>G c.(628-630)ACC>AGC p.T210S CD80_uc010hqt.1_Missense_Mutation_p.T210S|CD80_uc010hqu.1_Intron NM_005191 NP_005182 P33681 CD80_HUMAN CD80 antigen precursor 210 Extracellular (Potential).|Ig-like C2-type. interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation intracellular coreceptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Abatacept(DB01281) GCTGTGGTTGGTTGTCATATT 0.393 80 379 --- --- --- --- PASS C3orf15 89876 broad.mit.edu 37 3 119434428 119434428 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:119434428C>A uc003ede.3 + 6 597 c.520C>A c.(520-522)CCT>ACT p.P174T C3orf15_uc003edc.2_Missense_Mutation_p.P174T|C3orf15_uc010hqy.1_Missense_Mutation_p.P174T|C3orf15_uc010hqz.2_Missense_Mutation_p.P112T|C3orf15_uc011bjd.1_Missense_Mutation_p.P48T|C3orf15_uc011bje.1_Missense_Mutation_p.P154T|C3orf15_uc010hra.1_5'UTR NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 174 mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) ATACACTTTTCCTCCTACTTC 0.368 137 397 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183683230 183683230 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:183683230C>G uc003fmg.2 - 13 2058 c.1893G>C c.(1891-1893)CAG>CAC p.Q631H ABCC5_uc011bqt.1_Missense_Mutation_p.Q159H|ABCC5_uc010hxl.2_Missense_Mutation_p.Q631H NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 631 ABC transporter 1. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GGATCCAGGCCTGCTGGGCCA 0.473 43 201 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195517500 195517500 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr3:195517500G>A uc011bto.1 - 2 1411 c.951C>T c.(949-951)GAC>GAT p.D317D MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Silent_p.D199D NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 322 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AAGCTGTTGTGTCCTGAGTAG 0.463 53 261 --- --- --- --- PASS C4orf50 389197 broad.mit.edu 37 4 5981919 5981919 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:5981919C>A uc003git.1 - 2 240 c.150G>T c.(148-150)CAG>CAT p.Q50H NM_207405 NP_997288 Q6ZRC1 CD050_HUMAN hypothetical protein LOC389197 50 Potential. pancreas(2)|breast(1) 3 GGAGCTCCTCCTGGAGGCGGG 0.652 6 61 --- --- --- --- PASS TBC1D14 57533 broad.mit.edu 37 4 7012487 7012487 + Missense_Mutation SNP T G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:7012487T>G uc011bwg.1 + 11 1705 c.1626T>G c.(1624-1626)TTT>TTG p.F542L TBC1D14_uc003gjs.3_Missense_Mutation_p.F542L|TBC1D14_uc010idh.2_Missense_Mutation_p.F262L|TBC1D14_uc011bwh.1_Missense_Mutation_p.F189L|TBC1D14_uc003gju.3_Missense_Mutation_p.F33L NM_001113361 NP_001106832 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 isoform a 542 Rab-GAP TBC. intracellular Rab GTPase activator activity ovary(1)|pancreas(1) 2 AAATGGCGTTTTTTAGAGTGG 0.443 35 302 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55139838 55139838 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:55139838G>T uc003han.3 + 10 1830 c.1499G>T c.(1498-1500)CGA>CTA p.R500L PDGFRA_uc003haa.2_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.R394L|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 500 Ig-like C2-type 5.|Extracellular (Potential). cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.R500R(1) soft_tissue(572)|small_intestine(40)|stomach(16)|lung(16)|central_nervous_system(13)|haematopoietic_and_lymphoid_tissue(7)|skin(3)|ovary(3)|gastrointestinal_tract_(site_indeterminate)(1)|autonomic_ganglia(1)|prostate(1)|bone(1) 674 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATCGCCGTGCGATGCCTGGCT 0.557 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 18 141 --- --- --- --- PASS RASGEF1B 153020 broad.mit.edu 37 4 82363480 82363480 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:82363480C>G uc003hmi.1 - 9 1123 c.979G>C c.(979-981)GTG>CTG p.V327L RASGEF1B_uc003hmj.1_Missense_Mutation_p.V326L|RASGEF1B_uc010ijq.1_Missense_Mutation_p.V285L NM_152545 NP_689758 Q0VAM2 RGF1B_HUMAN RasGEF domain family, member 1B 327 Ras-GEF. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity 0 GCAGTCTTCACTTTGGCCCAA 0.388 13 138 --- --- --- --- PASS ADH4 127 broad.mit.edu 37 4 100062715 100062715 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:100062715G>T uc003hun.2 - 3 315 c.239C>A c.(238-240)CCA>CAA p.P80Q uc003hum.1_Intron|ADH4_uc011ced.1_Missense_Mutation_p.P99Q NM_000670 NP_000661 P08319 ADH4_HUMAN class II alcohol dehydrogenase, pi subunit 80 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding skin(2) 2 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) GGTCACTCCTGGCCCAATACT 0.413 7 72 --- --- --- --- PASS ENPEP 2028 broad.mit.edu 37 4 111409723 111409723 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:111409723C>T uc003iab.3 + 2 1013 c.671C>T c.(670-672)CCA>CTA p.P224L NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 224 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GATCATGAACCAACAGATGCC 0.393 9 54 --- --- --- --- PASS C4orf21 55345 broad.mit.edu 37 4 113544995 113544995 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:113544995C>A uc003iau.2 - 4 351 c.140G>T c.(139-141)AGT>ATT p.S47I C4orf21_uc003iaw.2_Missense_Mutation_p.S47I NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AAGAAACAGACTCTCCAAACA 0.259 4 42 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114257161 114257161 + Missense_Mutation SNP A C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:114257161A>C uc003ibe.3 + 30 3639 c.3539A>C c.(3538-3540)CAG>CCG p.Q1180P ANK2_uc003ibd.3_Missense_Mutation_p.Q1171P|ANK2_uc003ibf.3_Missense_Mutation_p.Q1180P|ANK2_uc011cgc.1_Missense_Mutation_p.Q356P|ANK2_uc003ibg.3_Missense_Mutation_p.Q175P|ANK2_uc003ibc.2_Missense_Mutation_p.Q1156P|ANK2_uc011cgb.1_Missense_Mutation_p.Q1195P NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1147 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) CCCCAGGTGCAGGCCGTCTTC 0.532 23 179 --- --- --- --- PASS INTU 27152 broad.mit.edu 37 4 128584730 128584730 + Silent SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr4:128584730A>G uc003ifk.1 + 4 1033 c.963A>G c.(961-963)TCA>TCG p.S321S INTU_uc011cgq.1_RNA NM_015693 NP_056508 Q9ULD6 PDZD6_HUMAN PDZ domain containing 6 321 ovary(1) 1 CAGAAACCTCAAAGGAAGAGG 0.423 13 112 --- --- --- --- PASS DNAH5 1767 broad.mit.edu 37 5 13871757 13871757 + Missense_Mutation SNP G T T rs141168110 byFrequency TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:13871757G>T uc003jfd.2 - 23 3556 c.3514C>A c.(3514-3516)CAG>AAG p.Q1172K NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1172 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) TAGAGAATCTGGGACTCAAAT 0.403 Kartagener_syndrome 48 100 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23510043 23510043 + Nonsense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:23510043C>T uc003jgo.2 + 4 390 c.208C>T c.(208-210)CGA>TGA p.R70* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 70 KRAB-related. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 CAGAGCCACTCGACCAGCTTT 0.483 HNSCC(3;0.000094) 8 172 --- --- --- --- PASS SPEF2 79925 broad.mit.edu 37 5 35793334 35793334 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:35793334C>T uc003jjo.2 + 32 4739 c.4628C>T c.(4627-4629)TCA>TTA p.S1543L SPEF2_uc003jjp.1_Missense_Mutation_p.S1029L|SPEF2_uc003jjr.2_Missense_Mutation_p.S598L NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1543 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTAGTAACCTCAATGCCTTGG 0.463 18 202 --- --- --- --- PASS JMY 133746 broad.mit.edu 37 5 78533462 78533462 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:78533462G>A uc003kfx.3 + 1 1509 c.989G>A c.(988-990)GGC>GAC p.G330D NM_152405 NP_689618 Q8N9B5 JMY_HUMAN junction-mediating and regulatory protein 330 Potential. 'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter cell leading edge|cytoplasm|cytoskeleton|nucleus actin binding|transcription coactivator activity 0 all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35) CGGCAGAAGGGCTACGAAGAA 0.582 16 88 --- --- --- --- PASS MEGF10 84466 broad.mit.edu 37 5 126755734 126755734 + Splice_Site SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:126755734A>G uc003kuh.3 + 13 1789 c.1427_splice c.e13-2 p.G476_splice MEGF10_uc010jdc.1_Splice_Site_p.G476_splice|MEGF10_uc010jdd.1_Splice_Site_p.G476_splice|MEGF10_uc003kui.3_Splice_Site_p.G476_splice NM_032446 NP_115822 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 precursor cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup ovary(4) 4 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) CTTGTCGCACAGGCTGGCACG 0.557 18 84 --- --- --- --- PASS KIF20A 10112 broad.mit.edu 37 5 137518647 137518647 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:137518647T>C uc003lcj.2 + 7 1296 c.800T>C c.(799-801)ATC>ACC p.I267T KIF20A_uc011cyo.1_Missense_Mutation_p.I249T NM_005733 NP_005724 O95235 KI20A_HUMAN kinesin family member 20A 267 Kinesin-motor. cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport Golgi apparatus|microtubule|nucleoplasm ATP binding|microtubule motor activity|protein binding|transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTCTCTTCTATCAGTCAGTGT 0.517 24 70 --- --- --- --- PASS PCDHA6 56142 broad.mit.edu 37 5 140209904 140209904 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:140209904G>A uc003lho.2 + 1 2255 c.2228G>A c.(2227-2229)AGC>AAC p.S743N PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc011dab.1_Missense_Mutation_p.S743N NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 743 Cytoplasmic (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTGCTCCAGCGCAGTGGGG 0.682 13 45 --- --- --- --- PASS PCDHA13 56136 broad.mit.edu 37 5 140263278 140263278 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:140263278C>G uc003lif.2 + 1 1425 c.1425C>G c.(1423-1425)TTC>TTG p.F475L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.F475L|PCDHA13_uc003lid.2_Missense_Mutation_p.F475L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 475 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACATCTTCACGGTGTCTG 0.667 20 92 --- --- --- --- PASS PCDHB7 56129 broad.mit.edu 37 5 140554682 140554682 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:140554682G>T uc003lit.2 + 1 2440 c.2266G>T c.(2266-2268)GGC>TGC p.G756C PCDHB8_uc011dai.1_5'Flank NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 756 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTGACTGGAGGCTCCGGGAC 0.557 24 283 --- --- --- --- PASS PCDHB14 56122 broad.mit.edu 37 5 140604043 140604043 + Silent SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:140604043A>G uc003ljb.2 + 1 966 c.966A>G c.(964-966)ACA>ACG p.T322T PCDHB14_uc011dal.1_Silent_p.T169T NM_018934 NP_061757 Q9Y5E9 PCDBE_HUMAN protocadherin beta 14 precursor 322 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTCAGGCAACAGATGGTGGGG 0.373 27 120 --- --- --- --- PASS GABRA6 2559 broad.mit.edu 37 5 161128669 161128669 + Missense_Mutation SNP G T T rs142468532 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr5:161128669G>T uc003lyu.2 + 9 1590 c.1252G>T c.(1252-1254)GAC>TAC p.D418Y GABRA6_uc003lyv.2_Missense_Mutation_p.D189Y NM_000811 NP_000802 Q16445 GBRA6_HUMAN gamma-aminobutyric acid A receptor, alpha 6 418 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity ovary(7)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGTAAAATAGACCAGTATTC 0.473 TCGA Ovarian(5;0.080) 36 86 --- --- --- --- PASS EXOC2 55770 broad.mit.edu 37 6 572615 572615 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:572615C>A uc003mtd.2 - 13 1482 c.1348G>T c.(1348-1350)GCC>TCC p.A450S EXOC2_uc003mte.2_Missense_Mutation_p.A450S|EXOC2_uc011dho.1_Missense_Mutation_p.A45S NM_018303 NP_060773 Q96KP1 EXOC2_HUMAN Sec5 protein 450 exocytosis|protein transport breast(4)|ovary(2)|pancreas(1) 7 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) TCAACAAAGGCCACCCTGTGG 0.433 35 156 --- --- --- --- PASS CDYL 9425 broad.mit.edu 37 6 4952549 4952549 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:4952549G>T uc003mwi.2 + 8 1675 c.1544G>T c.(1543-1545)TGT>TTT p.C515F CDYL_uc003mwj.2_Missense_Mutation_p.C461F|CDYL_uc003mwk.2_Missense_Mutation_p.C226F|CDYL_uc011dhx.1_Missense_Mutation_p.C329F|CDYL_uc011dhy.1_Missense_Mutation_p.C329F NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 515 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CAGGAGGCGTGTGGCAAGGGC 0.567 26 101 --- --- --- --- PASS GMNN 51053 broad.mit.edu 37 6 24781805 24781805 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:24781805A>G uc003nem.2 + 4 437 c.230A>G c.(229-231)AAT>AGT p.N77S GMNN_uc003nen.2_Missense_Mutation_p.N77S NM_015895 NP_056979 O75496 GEMI_HUMAN geminin 77 M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent cytosol|nucleoplasm histone deacetylase binding ovary(1) 1 GAAAATAAAAATCTTGGAGGA 0.353 17 78 --- --- --- --- PASS HIST1H2BD 3017 broad.mit.edu 37 6 26158775 26158775 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:26158775G>C uc003ngr.2 + 1 427 c.378G>C c.(376-378)AAG>AAC p.K126N HIST1H2BD_uc003ngs.2_Missense_Mutation_p.K126N NM_021063 NP_066407 P58876 H2B1D_HUMAN histone cluster 1, H2bd 126 nucleosome assembly nucleosome|nucleus DNA binding ovary(1)|pancreas(1) 2 CCAGTTCCAAGTAACTTTGCC 0.512 18 134 --- --- --- --- PASS RNF5 6048 broad.mit.edu 37 6 32147865 32147865 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:32147865C>T uc003oaj.3 + 5 534 c.407C>T c.(406-408)ACC>ATC p.T136I AGPAT1_uc003oaf.2_5'Flank|AGPAT1_uc003oag.2_5'Flank|AGPAT1_uc003oah.2_5'Flank NM_006913 NP_008844 Q99942 RNF5_HUMAN ring finger protein 5 136 Helical; (Potential). ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 TTTTTCACCACCGTCTTCAAT 0.557 8 338 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57472406 57472406 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:57472406C>A uc003pdx.2 + 13 1282 c.1195C>A c.(1195-1197)CAG>AAG p.Q399K NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 399 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) GCAAAAGTTGCAGTCATACAA 0.438 12 90 --- --- --- --- PASS PRIM2 5558 broad.mit.edu 37 6 57472407 57472407 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:57472407A>G uc003pdx.2 + 13 1283 c.1196A>G c.(1195-1197)CAG>CGG p.Q399R NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 399 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) CAAAAGTTGCAGTCATACAAG 0.438 13 89 --- --- --- --- PASS HTR1E 3354 broad.mit.edu 37 6 87725839 87725839 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:87725839A>G uc003pli.2 + 2 1490 c.787A>G c.(787-789)ATC>GTC p.I263V NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 263 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) CCATGCCTCCATCAGGATCCC 0.502 40 391 --- --- --- --- PASS C6orf225 619208 broad.mit.edu 37 6 112420591 112420591 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:112420591G>T uc003pvs.2 + 3 530 c.105G>T c.(103-105)GGG>GGT p.G35G NM_001033564 NP_001028736 Q4G0N7 CF225_HUMAN hypothetical protein LOC619208 35 0 CCTGTAATGGGAAGGAGATGT 0.453 7 218 --- --- --- --- PASS CLVS2 134829 broad.mit.edu 37 6 123332243 123332243 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:123332243C>A uc003pzi.1 + 3 1372 c.503C>A c.(502-504)ACT>AAT p.T168N NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 168 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 AGTAACTTCACTTTCAAGCAA 0.413 23 97 --- --- --- --- PASS ADAT2 134637 broad.mit.edu 37 6 143771755 143771755 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr6:143771755G>A uc003qjj.2 - 1 87 c.41C>T c.(40-42)GCG>GTG p.A14V PEX3_uc011edx.1_5'Flank|PEX3_uc003qjl.2_5'Flank NM_182503 NP_872309 Q7Z6V5 ADAT2_HUMAN deaminase domain containing 1 14 tRNA processing hydrolase activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) CACCGAGCACGCGCCGCTTGC 0.672 24 142 --- --- --- --- PASS GNA12 2768 broad.mit.edu 37 7 2834600 2834600 + Missense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:2834600T>A uc003smu.2 - 2 651 c.487A>T c.(487-489)ATC>TTC p.I163F GNA12_uc011jwb.1_Missense_Mutation_p.I163F|GNA12_uc003smt.2_Missense_Mutation_p.I104F NM_007353 NP_031379 Q03113 GNA12_HUMAN guanine nucleotide binding protein (G protein) 163 G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.02e-13) GCCTCCCTGATGCCAGAATCC 0.572 54 163 --- --- --- --- PASS SDK1 221935 broad.mit.edu 37 7 4273008 4273008 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:4273008G>T uc003smx.2 + 41 6088 c.5949G>T c.(5947-5949)GAG>GAT p.E1983D SDK1_uc010kso.2_Missense_Mutation_p.E1239D|SDK1_uc003smy.2_Missense_Mutation_p.E470D|SDK1_uc003smz.2_Missense_Mutation_p.E43D NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1983 Fibronectin type-III 13. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CTGTGAATGAGGCGGGCTACG 0.612 17 109 --- --- --- --- PASS SP4 6671 broad.mit.edu 37 7 21469888 21469888 + Nonsense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:21469888G>T uc003sva.2 + 3 1286 c.1105G>T c.(1105-1107)GAG>TAG p.E369* SP4_uc003svb.2_Nonsense_Mutation_p.E56* NM_003112 NP_003103 Q02446 SP4_HUMAN Sp4 transcription factor 369 regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding ovary(3)|skin(2) 5 TGCTGCTACTGAGTCTGAAGC 0.478 17 128 --- --- --- --- PASS DNAH11 8701 broad.mit.edu 37 7 21847537 21847537 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:21847537A>G uc003svc.2 + 64 10254 c.10223A>G c.(10222-10224)GAA>GGA p.E3408G NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3408 Potential.|Stalk (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 AAGTCCTTTGAAGCTCAAGAG 0.473 Kartagener_syndrome 10 50 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378481 31378481 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:31378481C>G uc003tch.2 - 2 755 c.402G>C c.(400-402)GAG>GAC p.E134D NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 134 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 GTCGTAAAGTCTCTATTTTGG 0.463 35 144 --- --- --- --- PASS NEUROD6 63974 broad.mit.edu 37 7 31378518 31378518 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:31378518G>A uc003tch.2 - 2 718 c.365C>T c.(364-366)CCC>CTC p.P122L NM_022728 NP_073565 Q96NK8 NDF6_HUMAN neurogenic differentiation 6 122 Helix-loop-helix motif. cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2) 2 AGAATAACAGGGGACCACTTT 0.478 38 179 --- --- --- --- PASS GLI3 2737 broad.mit.edu 37 7 42007413 42007413 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:42007413T>C uc011kbh.1 - 14 2303 c.2212A>G c.(2212-2214)ATA>GTA p.I738V GLI3_uc011kbg.1_Missense_Mutation_p.I679V NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 738 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 AGGTCTCCTATACTACCTCCA 0.552 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 44 222 --- --- --- --- PASS COBL 23242 broad.mit.edu 37 7 51096398 51096398 + Nonsense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:51096398G>A uc003tpr.3 - 10 2580 c.2395C>T c.(2395-2397)CAG>TAG p.Q799* COBL_uc003tps.2_Nonsense_Mutation_p.Q856*|COBL_uc011kcl.1_Nonsense_Mutation_p.Q799*|COBL_uc003tpp.3_Nonsense_Mutation_p.Q585*|COBL_uc003tpq.3_Nonsense_Mutation_p.Q740*|COBL_uc003tpo.3_Nonsense_Mutation_p.Q341* NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 799 skin(3)|ovary(2) 5 Glioma(55;0.08) TTCTGCGTCTGCGTGGGCACA 0.622 5 91 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70597922 70597922 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:70597922G>A uc003tvy.2 + 1 134 c.134G>A c.(133-135)CGC>CAC p.R45H NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 45 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ATCCGGCCGCGCGCCGAGGTG 0.682 7 23 --- --- --- --- PASS WNT2 7472 broad.mit.edu 37 7 116960739 116960739 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:116960739G>A uc003viz.2 - 2 492 c.192C>T c.(190-192)GCC>GCT p.A64A WNT2_uc003vja.2_5'UTR NM_003391 NP_003382 P09544 WNT2_HUMAN wingless-type MMTV integration site family 64 atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway cytoplasm|extracellular space|proteinaceous extracellular matrix cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity breast(2)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 7 all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGGCTAATGGCACGCATCA 0.602 8 48 --- --- --- --- PASS FLNC 2318 broad.mit.edu 37 7 128485048 128485048 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:128485048A>T uc003vnz.3 + 21 3738 c.3529A>T c.(3529-3531)ACT>TCT p.T1177S FLNC_uc003voa.3_Missense_Mutation_p.T1177S NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1177 Filamin 10. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 AGCCACCTTCACTGTGGACTG 0.647 17 48 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137257552 137257552 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:137257552C>A uc003vtt.2 - 18 1795 c.1794G>T c.(1792-1794)CAG>CAT p.Q598H DGKI_uc003vtu.2_Missense_Mutation_p.Q298H NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 598 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 ACTTCAGTTCCTGAATCTTTG 0.373 56 128 --- --- --- --- PASS TBXAS1 6916 broad.mit.edu 37 7 139715640 139715640 + Silent SNP G A A rs147299625 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:139715640G>A uc011kqv.1 + 12 1649 c.1485G>A c.(1483-1485)CCG>CCA p.P495P TBXAS1_uc003vvh.2_Silent_p.P449P|TBXAS1_uc010lne.2_Silent_p.P381P|TBXAS1_uc011kqu.1_Silent_p.P400P|TBXAS1_uc003vvi.2_Silent_p.P449P|TBXAS1_uc003vvj.2_Silent_p.P449P|TBXAS1_uc011kqw.1_Silent_p.P429P NM_001130966 NP_001124438 P24557 THAS_HUMAN thromboxane A synthase 1, platelet isoform 448 Cytoplasmic (Potential). hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity ovary(2)|breast(1) 3 Melanoma(164;0.0142) GGCCAAGCCCGGAGACCTTCA 0.597 4 121 --- --- --- --- PASS MKRN1 23608 broad.mit.edu 37 7 140155025 140155025 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr7:140155025G>A uc003vvt.2 - 7 1331 c.1106C>T c.(1105-1107)GCG>GTG p.A369V MKRN1_uc003vvs.2_Missense_Mutation_p.A305V|MKRN1_uc011krd.1_Missense_Mutation_p.A103V NM_013446 NP_038474 Q9UHC7 MKRN1_HUMAN makorin ring finger protein 1 isoform 1 369 C3H1-type 4. ligase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1) 1 Melanoma(164;0.00956) ATACCTGCACGCCTTGTTGCT 0.473 6 285 --- --- --- --- PASS PRSS55 203074 broad.mit.edu 37 8 10387042 10387042 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:10387042G>A uc003wta.2 + 2 195 c.180G>A c.(178-180)GAG>GAA p.E60E uc010lru.2_Intron|PRSS55_uc003wtb.2_RNA NM_198464 NP_940866 Q6UWB4 PRS55_HUMAN hypothetical protein LOC203074 precursor 60 Extracellular (Potential). proteolysis integral to membrane serine-type endopeptidase activity ovary(1) 1 CTATTTTCGAGGGAAGAACTC 0.517 37 280 --- --- --- --- PASS BRF2 55290 broad.mit.edu 37 8 37704488 37704488 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:37704488C>A uc003xkk.2 - 3 530 c.420G>T c.(418-420)ACG>ACT p.T140T NM_018310 NP_060780 Q9HAW0 BRF2_HUMAN RNA polymerase III transcription initiation 140 1. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding 0 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) CATACAACAGCGTGCAGATGG 0.527 79 593 --- --- --- --- PASS GOT1L1 137362 broad.mit.edu 37 8 37794297 37794297 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:37794297A>G uc011lbj.1 - 6 804 c.704T>C c.(703-705)GTG>GCG p.V235A NM_152413 NP_689626 Q8NHS2 AATC2_HUMAN glutamic-oxaloacetic transaminase 1-like 1 235 biosynthetic process|cellular amino acid metabolic process cytoplasm pyridoxal phosphate binding|transaminase activity ovary(1) 1 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) gccttgagacacaaagtattg 0.184 13 64 --- --- --- --- PASS ASH2L 9070 broad.mit.edu 37 8 37968287 37968287 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:37968287C>T uc003xkt.3 + 5 579 c.521C>T c.(520-522)GCC>GTC p.A174V ASH2L_uc011lbk.1_Missense_Mutation_p.A35V|ASH2L_uc003xku.3_Missense_Mutation_p.A80V|ASH2L_uc010lwa.2_Missense_Mutation_p.A80V NM_004674 NP_004665 Q9UBL3 ASH2L_HUMAN ash2-like isoform a 174 hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter Set1C/COMPASS complex metal ion binding|protein binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 Colorectal(12;0.000501) Lung NSC(58;0.0295)|all_lung(54;0.0413) AGTGCTTTGGCCAACCTGACA 0.403 3 50 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38146064 38146064 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:38146064C>T uc003xli.2 - 19 3960 c.3442G>A c.(3442-3444)GAG>AAG p.E1148K WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1148K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1099K NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1148 SET. 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) TTGATGATCTCTGCATCAGGG 0.532 T NUP98 AML 114 817 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38146112 38146112 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:38146112C>T uc003xli.2 - 19 3912 c.3394G>A c.(3394-3396)GAT>AAT p.D1132N WHSC1L1_uc011lbm.1_Missense_Mutation_p.D1132N|WHSC1L1_uc010lwe.2_Missense_Mutation_p.D1083N NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1132 AWS. 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) TGACAACGATCTCCAGCTGGG 0.517 T NUP98 AML 73 826 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38146142 38146142 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:38146142C>T uc003xli.2 - 19 3882 c.3364G>A c.(3364-3366)GAA>AAA p.E1122K WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1122K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E1073K NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1122 AWS. 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) GGGTGGCATTCATACTGCAAC 0.517 T NUP98 AML 78 818 --- --- --- --- PASS WHSC1L1 54904 broad.mit.edu 37 8 38146156 38146156 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:38146156C>T uc003xli.2 - 19 3868 c.3350G>A c.(3349-3351)AGA>AAA p.R1117K WHSC1L1_uc011lbm.1_Missense_Mutation_p.R1117K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.R1068K NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN WHSC1L1 protein isoform long 1117 AWS. 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) CTGCAACATTCTGTTCAGGCA 0.512 T NUP98 AML 79 773 --- --- --- --- PASS ANK1 286 broad.mit.edu 37 8 41547781 41547781 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:41547781G>T uc003xok.2 - 33 4152 c.4068C>A c.(4066-4068)CTC>CTA p.L1356L NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Silent_p.L672L|ANK1_uc003xoi.2_Silent_p.L1356L|ANK1_uc003xoj.2_Silent_p.L1356L|ANK1_uc003xol.2_Silent_p.L1356L|ANK1_uc003xom.2_Silent_p.L1397L NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1356 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) TCAGGTGGCAGAGAATGTGCT 0.607 4 169 --- --- --- --- PASS AP3M2 10947 broad.mit.edu 37 8 42023010 42023010 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:42023010G>A uc003xop.2 + 7 1026 c.735G>A c.(733-735)GAG>GAA p.E245E AP3M2_uc003xoo.2_Silent_p.E245E|AP3M2_uc010lxe.2_RNA|AP3M2_uc003xoq.1_Silent_p.E130E|AP3M2_uc003xor.1_Silent_p.E245E NM_001134296 NP_001127768 P53677 AP3M2_HUMAN adaptor-related protein complex 3, mu 2 subunit 245 MHD. intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|Golgi apparatus 0 all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) GGGAATCTGAGCGCATCCTCT 0.478 16 376 --- --- --- --- PASS TERF1 7013 broad.mit.edu 37 8 73932953 73932953 + Silent SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:73932953C>T uc003xzd.2 + 3 475 c.450C>T c.(448-450)CCC>CCT p.P150P TERF1_uc003xzc.2_RNA|TERF1_uc003xze.2_Silent_p.P150P NM_017489 NP_059523 P54274 TERF1_HUMAN telomeric repeat binding factor 1 isoform 1 150 TRFH dimerization. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding p.P150S(1) ovary(1)|lung(1)|skin(1) 3 Breast(64;0.218) Epithelial(68;0.0984) GAATTACACCCTTGGAATCAG 0.294 11 53 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77765924 77765924 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:77765924T>C uc003yav.2 + 10 7019 c.6632T>C c.(6631-6633)ATA>ACA p.I2211T ZFHX4_uc003yau.1_Missense_Mutation_p.I2256T|ZFHX4_uc003yaw.1_Missense_Mutation_p.I2211T NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2211 Homeobox 2. 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) GATGATGAAATAGAACAACTC 0.408 HNSCC(33;0.089) 5 35 --- --- --- --- PASS HAS2 3037 broad.mit.edu 37 8 122640991 122640991 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:122640991G>A uc003yph.2 - 2 1128 c.590C>T c.(589-591)GCC>GTC p.A197V NM_005328 NP_005319 Q92819 HAS2_HUMAN hyaluronan synthase 2 197 Cytoplasmic (Potential). integral to plasma membrane hyaluronan synthase activity HAS2/PLAG1(10) soft_tissue(10)|ovary(5) 15 Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142) STAD - Stomach adenocarcinoma(47;0.00503) TGCTCTGAAGGCTGTGTACAT 0.433 52 297 --- --- --- --- PASS FER1L6 654463 broad.mit.edu 37 8 125072483 125072483 + Nonsense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr8:125072483C>A uc003yqw.2 + 23 3143 c.2937C>A c.(2935-2937)TAC>TAA p.Y979* uc003yqy.1_RNA NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 979 Cytoplasmic (Potential). integral to membrane ovary(5)|skin(5)|central_nervous_system(1) 11 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CCCAGATCTACCCGGTTCCTG 0.582 54 238 --- --- --- --- PASS DMRT1 1761 broad.mit.edu 37 9 968063 968063 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:968063A>G uc003zgv.2 + 5 1195 c.1046A>G c.(1045-1047)AAG>AGG p.K349R NM_021951 NP_068770 Q9Y5R6 DMRT1_HUMAN doublesex and mab-3 related transcription factor 349 cell differentiation|male gonad development|sex determination nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232) Lung(218;0.037) AAGAGCACAAAGGCAGTGCTT 0.547 15 67 --- --- --- --- PASS BNC2 54796 broad.mit.edu 37 9 16552593 16552593 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:16552593C>A uc003zml.2 - 5 744 c.604G>T c.(604-606)GTA>TTA p.V202L BNC2_uc011lmw.1_Missense_Mutation_p.V107L|BNC2_uc003zmm.2_Missense_Mutation_p.V160L|BNC2_uc003zmq.1_Missense_Mutation_p.V216L|BNC2_uc003zmr.1_Missense_Mutation_p.V239L|BNC2_uc003zmp.1_Missense_Mutation_p.V230L|BNC2_uc010mij.1_Missense_Mutation_p.V124L|BNC2_uc011lmv.1_Missense_Mutation_p.V28L|BNC2_uc003zmo.1_Missense_Mutation_p.V124L NM_017637 NP_060107 Q6ZN30 BNC2_HUMAN basonuclin 2 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(50;9.01e-08) ATGTGCAGTACCTCCTCTTGC 0.577 38 96 --- --- --- --- PASS TAF1L 138474 broad.mit.edu 37 9 32633383 32633383 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:32633383C>A uc003zrg.1 - 1 2285 c.2195G>T c.(2194-2196)GGA>GTA p.G732V uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 732 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) ATCTGGTGCTCCAGGATCTTT 0.438 60 180 --- --- --- --- PASS PRUNE2 158471 broad.mit.edu 37 9 79270405 79270405 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:79270405C>A uc010mpk.2 - 10 8414 c.8290G>T c.(8290-8292)GAT>TAT p.D2764Y PRUNE2_uc011lsk.1_Missense_Mutation_p.D13Y|PRUNE2_uc011lsl.1_Missense_Mutation_p.D28Y|PRUNE2_uc011lsm.1_Missense_Mutation_p.D28Y|PRUNE2_uc004akj.3_Missense_Mutation_p.D217Y|PRUNE2_uc010mpl.1_Missense_Mutation_p.D217Y NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN prune homolog 2 2764 apoptosis|G1 phase|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity 0 ATTCCTACATCCTCTGACAGT 0.468 5 24 --- --- --- --- PASS RASEF 158158 broad.mit.edu 37 9 85615900 85615900 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:85615900C>A uc004amo.1 - 10 1609 c.1348G>T c.(1348-1350)GAC>TAC p.D450Y NM_152573 NP_689786 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 450 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 ACTTCTGAGTCATACTCATTG 0.517 18 85 --- --- --- --- PASS PAPPA 5069 broad.mit.edu 37 9 119158849 119158849 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:119158849C>A uc004bjn.2 + 22 5219 c.4838C>A c.(4837-4839)GCC>GAC p.A1613D PAPPA_uc011lxq.1_Missense_Mutation_p.A988D NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1613 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GACCCCCAGGCCCAAGAACAC 0.522 54 286 --- --- --- --- PASS KIAA0649 9858 broad.mit.edu 37 9 138378128 138378128 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr9:138378128G>T uc004cfr.1 + 4 2321 c.1772G>T c.(1771-1773)GGC>GTC p.G591V NM_014811 NP_055626 Q5T8A7 K0649_HUMAN 1A6/DRIM (down-regulated in metastasis) 591 nucleolus protein binding ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(145;6.91e-08)|Epithelial(140;4.69e-07)|all cancers(34;9.33e-06) CCACTGCTGGGCTGCAAAAGG 0.617 27 110 --- --- --- --- PASS MTPAP 55149 broad.mit.edu 37 10 30604932 30604932 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:30604932C>A uc001iva.3 - 8 1409 c.1346G>T c.(1345-1347)GGC>GTC p.G449V MTPAP_uc001ivb.3_Missense_Mutation_p.G579V NM_018109 NP_060579 Q9NVV4 PAPD1_HUMAN PAP associated domain containing 1 precursor 449 PAP-associated. cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent mitochondrion ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding ovary(1) 1 AGCAAAATTGCCAAAATACTC 0.289 3 45 --- --- --- --- PASS ITGB1 3688 broad.mit.edu 37 10 33217124 33217124 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:33217124T>C uc001iws.3 - 5 581 c.445A>G c.(445-447)ATG>GTG p.M149V ITGB1_uc001iwp.3_Missense_Mutation_p.M149V|ITGB1_uc001iwq.3_Missense_Mutation_p.M149V|ITGB1_uc001iwr.3_Missense_Mutation_p.M149V|ITGB1_uc001iwt.3_Missense_Mutation_p.M149V|ITGB1_uc001iwu.1_Missense_Mutation_p.M149V NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 149 Extracellular (Potential).|VWFA. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) GACAGGTCCATAAGGTAGTAG 0.368 47 230 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48390601 48390601 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:48390601G>A uc001jez.2 - 1 391 c.277C>T c.(277-279)CCC>TCC p.P93S NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 93 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GGGGTGCTGGGCTCATAGGAG 0.622 37 173 --- --- --- --- PASS BICC1 80114 broad.mit.edu 37 10 60573693 60573693 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:60573693A>G uc001jki.1 + 18 2480 c.2480A>G c.(2479-2481)CAT>CGT p.H827R BICC1_uc001jkj.1_Missense_Mutation_p.H468R NM_001080512 NP_001073981 Q9H694 BICC1_HUMAN bicaudal C homolog 1 827 multicellular organismal development RNA binding ovary(2)|lung(1)|skin(1) 4 CCTGGAAGTCATAGTGAATTT 0.448 39 184 --- --- --- --- PASS RTKN2 219790 broad.mit.edu 37 10 63999436 63999436 + Silent SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:63999436T>A uc001jlw.2 - 5 556 c.459A>T c.(457-459)ACA>ACT p.T153T RTKN2_uc001jlx.2_Silent_p.T153T NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN rhotekin 2 153 signal transduction intracellular 0 Prostate(12;0.0297)|all_hematologic(501;0.215) AACATATATCTGTGATTGTTT 0.269 4 12 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 68979521 68979521 + Silent SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:68979521A>G uc009xpn.1 - 6 810 c.687T>C c.(685-687)TCT>TCC p.S229S CTNNA3_uc001jmw.2_Silent_p.S229S|CTNNA3_uc001jmx.3_Silent_p.S229S|CTNNA3_uc009xpo.1_Silent_p.S89S|CTNNA3_uc001jna.2_Silent_p.S241S NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 229 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 AAGCAACATCAGAATGCTCCA 0.418 43 172 --- --- --- --- PASS LGI1 9211 broad.mit.edu 37 10 95518045 95518045 + Nonsense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:95518045T>A uc001kjc.3 + 1 480 c.144T>A c.(142-144)TGT>TGA p.C48* LGI1_uc010qnv.1_Nonsense_Mutation_p.C48*|LGI1_uc001kjd.3_Nonsense_Mutation_p.C48*|LGI1_uc009xui.2_RNA|LGI1_uc001kje.2_RNA NM_005097 NP_005088 O95970 LGI1_HUMAN leucine-rich, glioma inactivated 1 precursor 48 LRRNT. axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission cell junction|extracellular space|synapse receptor binding ovary(2)|central_nervous_system(1)|skin(1) 4 Colorectal(252;0.124) TGTGTACTTGTACCAAAGATA 0.438 37 181 --- --- --- --- PASS PLCE1 51196 broad.mit.edu 37 10 96006091 96006091 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:96006091G>T uc001kjk.2 + 8 3443 c.2809G>T c.(2809-2811)GAT>TAT p.D937Y PLCE1_uc010qnx.1_Missense_Mutation_p.D937Y|PLCE1_uc001kjm.2_Missense_Mutation_p.D629Y NM_016341 NP_057425 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 isoform 1 937 activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity ovary(2)|skin(1) 3 Colorectal(252;0.0458) AGGGGTCTTGGATCTTTTTGC 0.458 40 174 --- --- --- --- PASS COL17A1 1308 broad.mit.edu 37 10 105815545 105815545 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:105815545T>C uc001kxr.2 - 18 1851 c.1682A>G c.(1681-1683)GAA>GGA p.E561G COL17A1_uc010qqv.1_Missense_Mutation_p.E545G NM_000494 NP_000485 Q9UMD9 COHA1_HUMAN alpha 1 type XVII collagen 561 Extracellular (Potential).|Nonhelical region (NC16). cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding ovary(4)|pancreas(1) 5 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) CTCACCATTTTCCTGTTCCAT 0.557 16 76 --- --- --- --- PASS ADAM12 8038 broad.mit.edu 37 10 127737858 127737858 + Silent SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:127737858C>T uc001ljk.2 - 16 2303 c.1890G>A c.(1888-1890)GGG>GGA p.G630G ADAM12_uc010qul.1_Silent_p.G581G|ADAM12_uc001ljm.2_Silent_p.G630G|ADAM12_uc001ljn.2_Silent_p.G627G|ADAM12_uc001ljl.3_Silent_p.G627G NM_003474 NP_003465 O43184 ADA12_HUMAN ADAM metallopeptidase domain 12 isoform 1 630 Extracellular (Potential).|Cys-rich. cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding breast(4)|ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 9 all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22) COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216) CAAGCACAAGCCCTGGGTCCG 0.517 79 514 --- --- --- --- PASS CYP2E1 1571 broad.mit.edu 37 10 135342029 135342029 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr10:135342029G>T uc001lnj.1 + 2 255 c.222G>T c.(220-222)TCG>TCT p.S74S CYP2E1_uc001lnk.1_Intron|CYP2E1_uc009ybl.1_Intron|CYP2E1_uc009ybm.1_Intron NM_000773 NP_000764 P05181 CP2E1_HUMAN cytochrome P450, family 2, subfamily E, 74 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding central_nervous_system(3) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) ACGTGGGCTCGCAGCGCATGG 0.682 Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of 21 71 --- --- --- --- PASS LRDD 55367 broad.mit.edu 37 11 804285 804285 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:804285C>T uc001lro.1 - 2 246 c.104G>A c.(103-105)GGC>GAC p.G35D LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Missense_Mutation_p.G35D|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR NM_145886 NP_665893 Q9HB75 PIDD_HUMAN leucine rich repeat and death domain containing 35 apoptosis|signal transduction cytoplasm|nucleus death receptor binding 0 all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198) all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) CAGCCGGTTGCCGCCCAGGAA 0.662 3 50 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1276684 1276684 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:1276684G>A uc009ycr.1 + 59 17099 c.16973G>A c.(16972-16974)AGG>AAG p.R5658K MUC5B_uc001ltb.2_Missense_Mutation_p.R5324K NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5321 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) GACCACTGCAGGGGCCGCCTT 0.667 3 10 --- --- --- --- PASS OR52B4 143496 broad.mit.edu 37 11 4388864 4388864 + Missense_Mutation SNP A C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:4388864A>C uc010qye.1 - 1 662 c.662T>G c.(661-663)ATG>AGG p.M221R NM_001005161 NP_001005161 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, 221 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GAGAATCAGCATATAGGAAAT 0.388 27 91 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068293 5068293 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:5068293T>C uc010qyv.1 + 1 538 c.538T>C c.(538-540)TAC>CAC p.Y180H NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|lung(1)|skin(1) 3 Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204) Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCCCATTCCTACTGTGAGCA 0.418 13 192 --- --- --- --- PASS TPP1 1200 broad.mit.edu 37 11 6637572 6637572 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:6637572C>T uc001mel.1 - 8 1110 c.1049G>A c.(1048-1050)CGG>CAG p.R350Q TPP1_uc001mek.1_Missense_Mutation_p.R107Q NM_000391 NP_000382 O14773 TPP1_HUMAN tripeptidyl-peptidase I preproprotein 350 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) GGTGAGACCCCGAGCGGCAGC 0.562 9 180 --- --- --- --- PASS HTATIP2 10553 broad.mit.edu 37 11 20404575 20404575 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:20404575A>G uc009yia.1 + 6 619 c.553A>G c.(553-555)AGA>GGA p.R185G HTATIP2_uc009yib.1_Missense_Mutation_p.R185G|HTATIP2_uc001mpx.2_Missense_Mutation_p.R219G|HTATIP2_uc001mpz.2_Missense_Mutation_p.R185G NM_006410 NP_006401 Q9BUP3 HTAI2_HUMAN HIV-1 Tat interactive protein 2, 30kDa isoform 185 angiogenesis|anti-apoptosis|apoptosis|cell differentiation|cellular amino acid metabolic process|induction of apoptosis|interspecies interaction between organisms|nuclear import|regulation of angiogenesis|regulation of transcription from RNA polymerase II promoter cytoplasm|nuclear envelope NAD binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor|protein binding|transcription coactivator activity 0 ATGGCTGGTTAGAAAGTTCTT 0.428 11 61 --- --- --- --- PASS OR4B1 119765 broad.mit.edu 37 11 48238463 48238463 + Silent SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:48238463T>C uc010rhs.1 + 1 102 c.102T>C c.(100-102)CTT>CTC p.L34L NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 CCGTGTACCTTGCCACGGTGG 0.512 32 243 --- --- --- --- PASS OR4C3 256144 broad.mit.edu 37 11 48346728 48346728 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:48346728C>A uc010rhv.1 + 1 236 c.236C>A c.(235-237)ACG>AAG p.T79K NM_001004702 NP_001004702 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, 52 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TCCAGCCCCACGCTGGCTTCC 0.448 5 188 --- --- --- --- PASS OR4C13 283092 broad.mit.edu 37 11 49974694 49974694 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:49974694C>A uc010rhz.1 + 1 720 c.720C>A c.(718-720)TCC>TCA p.S240S NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN olfactory receptor, family 4, subfamily C, 240 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(1) 4 CCTGTGTCTCCCACATCACAG 0.458 56 265 --- --- --- --- PASS APLNR 187 broad.mit.edu 37 11 57003922 57003922 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:57003922G>C uc001njo.2 - 1 1006 c.557C>G c.(556-558)TCC>TGC p.S186C APLNR_uc001njn.3_RNA NM_005161 NP_005152 P35414 APJ_HUMAN apelin receptor 186 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity lung(5)|ovary(1) 6 GGCCACCATGGAGTAGTCCAT 0.617 7 77 --- --- --- --- PASS RTN4RL2 349667 broad.mit.edu 37 11 57235245 57235245 + Silent SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:57235245C>T uc010rjt.1 + 2 195 c.195C>T c.(193-195)CTC>CTT p.L65L NM_178570 NP_848665 Q86UN3 R4RL2_HUMAN reticulon 4 receptor-like 2 precursor 65 LRR 1. axon regeneration anchored to plasma membrane receptor activity 0 CTCAGCGACTCTTCCTGCAGA 0.617 9 227 --- --- --- --- PASS OR5B3 441608 broad.mit.edu 37 11 58170406 58170406 + Silent SNP C A A rs141530938 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:58170406C>A uc010rkf.1 - 1 477 c.477G>T c.(475-477)GGG>GGT p.G159G NM_001005469 NP_001005469 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, 159 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) TAAATGTGTCCCCAGTGTGGA 0.453 18 143 --- --- --- --- PASS OR10V1 390201 broad.mit.edu 37 11 59481095 59481095 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:59481095G>T uc001nof.1 - 1 224 c.224C>A c.(223-225)TCT>TAT p.S75Y NM_001005324 NP_001005324 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, 75 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GGTGATGGAAGATGTATAGAA 0.443 13 53 --- --- --- --- PASS LRRC32 2615 broad.mit.edu 37 11 76371859 76371859 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:76371859C>A uc001oxq.3 - 3 1021 c.778G>T c.(778-780)GAC>TAC p.D260Y LRRC32_uc001oxr.3_Missense_Mutation_p.D260Y|LRRC32_uc010rsf.1_Missense_Mutation_p.D260Y NM_005512 NP_005503 Q14392 LRC32_HUMAN leucine rich repeat containing 32 precursor 260 LRR 9.|Extracellular (Potential). integral to plasma membrane 0 GCGGCCAGGTCGGGGAAATGG 0.627 17 122 --- --- --- --- PASS APOA4 337 broad.mit.edu 37 11 116692448 116692448 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:116692448A>T uc001pps.1 - 3 430 c.326T>A c.(325-327)CTG>CAG p.L109Q NM_000482 NP_000473 apolipoprotein A-IV precursor 0 all_hematologic(175;0.0487) Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148) ccgggccctcagctcctccag 0.050 10 43 --- --- --- --- PASS OR6X1 390260 broad.mit.edu 37 11 123624487 123624487 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:123624487G>T uc010rzy.1 - 1 740 c.740C>A c.(739-741)TCC>TAC p.S247Y NM_001005188 NP_001005188 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, 247 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTAGAGCAGGGAGACAACTGT 0.468 29 107 --- --- --- --- PASS ROBO4 54538 broad.mit.edu 37 11 124765025 124765025 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:124765025C>A uc001qbg.2 - 7 1241 c.1101G>T c.(1099-1101)TGG>TGT p.W367C ROBO4_uc010sas.1_Missense_Mutation_p.W222C|ROBO4_uc001qbh.2_Missense_Mutation_p.W257C|ROBO4_uc001qbi.2_5'Flank|ROBO4_uc010sat.1_5'UTR NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 367 Fibronectin type-III 2. 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) GTGGTGGGACCCAGCTCACAA 0.562 6 101 --- --- --- --- PASS A2ML1 144568 broad.mit.edu 37 12 9020640 9020640 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:9020640G>T uc001quz.3 + 30 4018 c.3920G>T c.(3919-3921)TGT>TTT p.C1307F A2ML1_uc001qva.1_Missense_Mutation_p.C887F|A2ML1_uc010sgm.1_Missense_Mutation_p.C807F|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1151 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 GGCCAGGGCTGTGTCTATGTG 0.498 16 111 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9313081 9313081 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:9313081T>C uc001qvl.2 - 24 2907 c.2878A>G c.(2878-2880)ATA>GTA p.I960V PZP_uc009zgl.2_Missense_Mutation_p.I746V|PZP_uc010sgo.1_RNA NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 GAACCTAATATGTCACCTGGG 0.353 21 137 --- --- --- --- PASS CAPZA3 93661 broad.mit.edu 37 12 18891942 18891942 + Nonsense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:18891942T>A uc001rdy.2 + 1 898 c.740T>A c.(739-741)TTA>TAA p.L247* PLCZ1_uc001rdv.3_5'Flank|PLCZ1_uc001rdw.3_5'Flank|PLCZ1_uc010sid.1_5'Flank NM_033328 NP_201585 Q96KX2 CAZA3_HUMAN capping protein alpha 3 247 actin cytoskeleton organization|actin filament capping F-actin capping protein complex actin binding ovary(1)|central_nervous_system(1) 2 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241) Hepatocellular(102;0.194) TTACAGGAGTTATCCAATGAA 0.433 17 84 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21028260 21028260 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:21028260C>A uc001rek.2 + 8 945 c.819C>A c.(817-819)TCC>TCA p.S273S SLCO1B3_uc001rel.2_Silent_p.S273S|SLCO1B3_uc010sil.1_Silent_p.S273S|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Silent_p.S98S NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 273 Helical; Name=6; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TTATTTCTTCCATACCATTTT 0.363 28 157 --- --- --- --- PASS SLCO1B3 28234 broad.mit.edu 37 12 21028261 21028261 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:21028261A>T uc001rek.2 + 8 946 c.820A>T c.(820-822)ATA>TTA p.I274L SLCO1B3_uc001rel.2_Missense_Mutation_p.I274L|SLCO1B3_uc010sil.1_Missense_Mutation_p.I274L|LST-3TM12_uc010sim.1_Intron|SLCO1B3_uc001reo.2_Missense_Mutation_p.I99L NM_019844 NP_062818 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, 274 Helical; Name=6; (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) TATTTCTTCCATACCATTTTT 0.363 27 156 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49420213 49420213 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:49420213C>A uc001rta.3 - 48 15536 c.15536G>T c.(15535-15537)CGT>CTT p.R5179L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5179 FYR N-terminal. R -> H (in KABS). chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCCCCCCACACGGAACATGTG 0.592 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 54 --- --- --- --- PASS MLL2 8085 broad.mit.edu 37 12 49441830 49441830 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:49441830C>A uc001rta.3 - 14 4154 c.4154G>T c.(4153-4155)AGC>ATC p.S1385I NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1385 PHD-type 3. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCGGCCAAAGCTGCCACATAC 0.547 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 28 86 --- --- --- --- PASS OR10A7 121364 broad.mit.edu 37 12 55615657 55615657 + Silent SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:55615657T>A uc010spf.1 + 1 849 c.849T>A c.(847-849)CCT>CCA p.P283P NM_001005280 NP_001005280 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(4) 4 TCATCACACCTATGCTAAACC 0.468 25 108 --- --- --- --- PASS METTL7B 196410 broad.mit.edu 37 12 56077825 56077825 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:56077825G>T uc010spr.1 + 2 936 c.727G>T c.(727-729)GTC>TTC p.V243F NM_152637 NP_689850 Q6UX53 MET7B_HUMAN methyltransferase like 7B precursor 243 methyltransferase activity 0 GGGAAAGGCTGTCAAATAATC 0.522 52 143 --- --- --- --- PASS SMARCC2 6601 broad.mit.edu 37 12 56572240 56572240 + Nonsense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:56572240G>A uc001skb.2 - 14 1364 c.1258C>T c.(1258-1260)CAG>TAG p.Q420* SMARCC2_uc001skd.2_Nonsense_Mutation_p.Q420*|SMARCC2_uc001ska.2_Nonsense_Mutation_p.Q420*|SMARCC2_uc001skc.2_Nonsense_Mutation_p.Q420*|SMARCC2_uc010sqf.1_Nonsense_Mutation_p.Q309* NM_003075 NP_003066 Q8TAQ2 SMRC2_HUMAN SWI/SNF-related matrix-associated 420 chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex DNA binding|protein binding|transcription coactivator activity lung(2)|central_nervous_system(2)|ovary(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(18;0.123) TGGTGGGTCTGTTCAGTCACA 0.512 36 159 --- --- --- --- PASS PPFIA2 8499 broad.mit.edu 37 12 81693080 81693080 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:81693080C>A uc001szo.1 - 23 2885 c.2724G>T c.(2722-2724)GAG>GAT p.E908D PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 834 ovary(3)|lung(2)|pancreas(1) 6 ATTCTCTTACCTCTAGCCATG 0.438 4 23 --- --- --- --- PASS SLC5A8 160728 broad.mit.edu 37 12 101603442 101603442 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:101603442G>T uc001thz.3 - 1 575 c.185C>A c.(184-186)ACC>AAC p.T62N NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 62 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 GAAGCTAGCGGTGAGGGACAG 0.607 13 62 --- --- --- --- PASS RNF10 9921 broad.mit.edu 37 12 121001268 121001268 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr12:121001268C>G uc001typ.3 + 9 1856 c.1373C>G c.(1372-1374)CCA>CGA p.P458R RNF10_uc010szk.1_RNA|RNF10_uc001tyq.3_Missense_Mutation_p.P369R NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN ring finger protein 10 458 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGTCTGAACCAGAGCCTGAG 0.522 19 103 --- --- --- --- PASS LNX2 222484 broad.mit.edu 37 13 28143222 28143222 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr13:28143222C>A uc001url.3 - 3 908 c.599G>T c.(598-600)TGG>TTG p.W200L LNX2_uc001urm.1_Missense_Mutation_p.W200L NM_153371 NP_699202 Q8N448 LNX2_HUMAN ligand of numb-protein X 2 200 zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1) 6 Lung SC(185;0.0156) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248) CTCCTCACTCCATGTGGAAAG 0.527 64 324 --- --- --- --- PASS SLC10A2 6555 broad.mit.edu 37 13 103718501 103718501 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr13:103718501G>T uc001vpy.3 - 1 696 c.99C>A c.(97-99)GTC>GTA p.V33V NM_000452 NP_000443 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid 33 Helical; (Potential). bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity ovary(3)|skin(1) 4 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) CCGTACTTAGGACCACACTTA 0.483 44 179 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108862691 108862691 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr13:108862691C>A uc001vqn.2 - 2 1199 c.926G>T c.(925-927)GGT>GTT p.G309V LIG4_uc001vqo.2_Missense_Mutation_p.G309V|LIG4_uc010agg.1_Missense_Mutation_p.G242V|LIG4_uc010agf.2_Missense_Mutation_p.G309V|LIG4_uc001vqp.2_Missense_Mutation_p.G309V NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 309 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) GGTAAGAGAACCTTCAGTAGG 0.363 NHEJ 15 184 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23884662 23884662 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr14:23884662G>T uc001wjx.2 - 36 5317 c.5211C>A c.(5209-5211)CTC>CTA p.L1737L NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1737 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTTCAGTCTGGAGCTGGGACA 0.567 27 174 --- --- --- --- PASS NYNRIN 57523 broad.mit.edu 37 14 24886215 24886215 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr14:24886215G>T uc001wpf.3 + 9 5578 c.5260G>T c.(5260-5262)GAT>TAT p.D1754Y NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1754 Integrase catalytic. DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 CTCCTCCACTGATGCCACACC 0.597 8 64 --- --- --- --- PASS PRKD1 5587 broad.mit.edu 37 14 30066964 30066964 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr14:30066964C>A uc001wqh.2 - 16 2348 c.2167G>T c.(2167-2169)GTG>TTG p.V723L NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 723 Protein kinase. cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CAAAGTTTCACCTGTTGATGA 0.433 14 80 --- --- --- --- PASS DCAF5 8816 broad.mit.edu 37 14 69522303 69522303 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr14:69522303C>A uc001xkp.2 - 9 1319 c.1100G>T c.(1099-1101)GGA>GTA p.G367V DCAF5_uc001xkq.2_Missense_Mutation_p.G366V NM_003861 NP_003852 Q96JK2 DCAF5_HUMAN WD repeat domain 22 367 WD 6. CUL4 RING ubiquitin ligase complex ovary(1)|central_nervous_system(1) 2 TCCAGTACATCCTGGCTGCTT 0.478 64 310 --- --- --- --- PASS C14orf166B 145497 broad.mit.edu 37 14 77294668 77294668 + Silent SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr14:77294668C>T uc001xsx.2 + 2 237 c.123C>T c.(121-123)AGC>AGT p.S41S C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_5'Flank NM_194287 NP_919263 Q0VAA2 CN16B_HUMAN hypothetical protein LOC145497 41 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0306) GACAGAGCAGCGATAAAATGC 0.488 3 64 --- --- --- --- PASS MKRN3 7681 broad.mit.edu 37 15 23810970 23810970 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:23810970C>A uc001ywh.3 + 1 517 c.41C>A c.(40-42)GCC>GAC p.A14D MKRN3_uc001ywi.2_Missense_Mutation_p.A14D|MKRN3_uc010ayi.1_Missense_Mutation_p.A14D NM_005664 NP_005655 Q13064 MKRN3_HUMAN makorin ring finger protein 3 14 ribonucleoprotein complex ligase activity|nucleic acid binding|zinc ion binding lung(6)|large_intestine(2)|ovary(2) 10 all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14) all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012) CACGAGGCAGCCGGGGCCCAG 0.622 8 29 --- --- --- --- PASS MAGEL2 54551 broad.mit.edu 37 15 23890424 23890424 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:23890424C>A uc001ywj.3 - 1 752 c.657G>T c.(655-657)CAG>CAT p.Q219H NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAAAGGGATCCTGCAGAGCAT 0.567 36 121 --- --- --- --- PASS GABRB3 2562 broad.mit.edu 37 15 26793204 26793204 + Silent SNP G T T rs147235962 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:26793204G>T uc001zaz.2 - 9 1300 c.1158C>A c.(1156-1158)GGC>GGA p.G386G GABRB3_uc010uae.1_Silent_p.G301G|GABRB3_uc001zba.2_Silent_p.G386G|GABRB3_uc001zbb.2_Silent_p.G442G NM_000814 NP_000805 P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 386 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 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) TCCTGGTATCGCCAATGCCGC 0.473 21 226 --- --- --- --- PASS APBA2 321 broad.mit.edu 37 15 29346771 29346771 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:29346771G>T uc001zck.2 + 3 891 c.684G>T c.(682-684)CAG>CAT p.Q228H APBA2_uc010azj.2_Missense_Mutation_p.Q228H|APBA2_uc010uat.1_Missense_Mutation_p.Q228H|APBA2_uc001zcl.2_Missense_Mutation_p.Q228H|APBA2_uc010uas.1_Missense_Mutation_p.Q228H NM_005503 NP_005494 Q99767 APBA2_HUMAN amyloid beta A4 precursor protein-binding, 228 STXBP1-binding. nervous system development|protein transport protein binding 0 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) ACATTGACCAGATCGTGGCAG 0.647 4 32 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 34130031 34130031 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:34130031G>A uc001zhi.2 + 89 11920 c.11850G>A c.(11848-11850)GGG>GGA p.G3950G RYR3_uc010bar.2_Silent_p.G3945G NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3950 EF-hand. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCATGGAAGGGCAAAAACAGT 0.408 4 170 --- --- --- --- PASS FBN1 2200 broad.mit.edu 37 15 48782195 48782195 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:48782195C>A uc001zwx.1 - 25 3263 c.2935G>T c.(2935-2937)GCC>TCC p.A979S NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 979 TB 5. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGCAGCAGGCGTCCATGCGG 0.607 23 100 --- --- --- --- PASS RASGRF1 5923 broad.mit.edu 37 15 79298689 79298689 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:79298689G>T uc002beq.2 - 15 2328 c.1953C>A c.(1951-1953)GCC>GCA p.A651A RASGRF1_uc002bep.2_Silent_p.A638A|RASGRF1_uc010blm.1_Silent_p.A560A|RASGRF1_uc002ber.3_Silent_p.A638A|RASGRF1_uc010unh.1_Silent_p.A46A NM_002891 NP_002882 Q13972 RGRF1_HUMAN Ras protein-specific guanine 651 N-terminal Ras-GEF. activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|growth cone|plasma membrane|synaptosome Rho guanyl-nucleotide exchange factor activity skin(4)|ovary(1)|central_nervous_system(1) 6 GCTCCACACTGGCGTAGCGGA 0.572 15 64 --- --- --- --- PASS AP3B2 8120 broad.mit.edu 37 15 83349700 83349700 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:83349700G>T uc010uoh.1 - 7 837 c.660C>A c.(658-660)AAC>AAA p.N220K AP3B2_uc010uoi.1_Missense_Mutation_p.N220K|AP3B2_uc010uoj.1_Missense_Mutation_p.N188K|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 220 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GTTTCCGGTAGTTTTTGTGAA 0.592 12 47 --- --- --- --- PASS FSD2 123722 broad.mit.edu 37 15 83428314 83428314 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr15:83428314T>C uc002bjd.2 - 13 2203 c.2036A>G c.(2035-2037)GAT>GGT p.D679G FSD2_uc010uol.1_Missense_Mutation_p.D634G|FSD2_uc010uom.1_Missense_Mutation_p.D634G NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 679 B30.2/SPRY. central_nervous_system(1) 1 TATTCTTATATCTGGAGTTGT 0.299 3 22 --- --- --- --- PASS RHBDF1 64285 broad.mit.edu 37 16 111619 111619 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:111619C>A uc002cfl.3 - 12 1432 c.1284G>T c.(1282-1284)GCG>GCT p.A428A RHBDF1_uc010uty.1_Silent_p.A451A|RHBDF1_uc010utz.1_Silent_p.A428A|RHBDF1_uc010bqo.1_RNA NM_022450 NP_071895 Q96CC6 RHDF1_HUMAN rhomboid family 1 428 Helical; (Potential). cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity ovary(1)|pancreas(1) 2 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) AGCCCACGGGCGCGATGCCAT 0.667 17 70 --- --- --- --- PASS CLCN7 1186 broad.mit.edu 37 16 1501634 1501634 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:1501634G>A uc002clv.2 - 16 1547 c.1437C>T c.(1435-1437)CAC>CAT p.H479H CLCN7_uc002clu.2_5'Flank|CLCN7_uc002clw.2_Silent_p.H455H NM_001287 NP_001278 P51798 CLCN7_HUMAN chloride channel 7 isoform a 479 integral to membrane|lysosomal membrane antiporter activity|ATP binding|voltage-gated chloride channel activity central_nervous_system(2)|ovary(1)|skin(1) 4 Hepatocellular(780;0.0893) CTGGCGGGTCGTGGAAGAGGC 0.637 7 36 --- --- --- --- PASS ZNF75A 7627 broad.mit.edu 37 16 3367355 3367355 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:3367355A>T uc002cut.3 + 6 903 c.377A>T c.(376-378)CAC>CTC p.H126L ZNF75A_uc002cuv.3_RNA NM_153028 NP_694573 Q96N20 ZN75A_HUMAN zinc finger protein 75a 126 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 GGAAAATGGCACCAAGATTTT 0.403 8 70 --- --- --- --- PASS A2BP1 54715 broad.mit.edu 37 16 7680645 7680645 + Silent SNP C A A rs147636119 by1000genomes TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:7680645C>A uc002cys.2 + 11 1705 c.717C>A c.(715-717)TCC>TCA p.S239S A2BP1_uc010buf.1_Silent_p.S239S|A2BP1_uc002cyr.1_Silent_p.S238S|A2BP1_uc002cyt.2_Intron|A2BP1_uc010uxz.1_Silent_p.S282S|A2BP1_uc010uya.1_Silent_p.S196S|A2BP1_uc002cyv.1_Silent_p.S239S|A2BP1_uc010uyb.1_Silent_p.S239S|A2BP1_uc002cyw.2_Silent_p.S259S|A2BP1_uc002cyy.2_Silent_p.S259S|A2BP1_uc002cyx.2_Silent_p.S259S|A2BP1_uc010uyc.1_Intron NM_018723 NP_061193 Q9NWB1 RFOX1_HUMAN ataxin 2-binding protein 1 isoform 4 239 mRNA processing|RNA splicing|RNA transport nucleus|trans-Golgi network nucleotide binding|protein C-terminus binding|RNA binding 0 all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211) Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499) AGGGATCTTCCATGTACAGTG 0.483 21 102 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20380837 20380837 + Missense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:20380837T>A uc002dhc.1 - 8 1316 c.1093A>T c.(1093-1095)AGC>TGC p.S365C NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 365 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 CTCAGGAAGCTGCGGCCAAAT 0.423 63 261 --- --- --- --- PASS PDILT 204474 broad.mit.edu 37 16 20410427 20410427 + Missense_Mutation SNP G A A rs147993256 byFrequency TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:20410427G>A uc002dhc.1 - 2 419 c.196C>T c.(196-198)CTT>TTT p.L66F NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 66 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TCACGGAAAAGCACCATGAGG 0.542 4 73 --- --- --- --- PASS ITGAD 3681 broad.mit.edu 37 16 31422791 31422791 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:31422791C>G uc002ebv.1 + 14 1709 c.1660C>G c.(1660-1662)CTG>GTG p.L554V ITGAD_uc010cap.1_Missense_Mutation_p.L555V NM_005353 NP_005344 Q13349 ITAD_HUMAN integrin, alpha D precursor 554 FG-GAP 6.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity skin(1) 1 TGCTGTCTACCTGTTTCACGG 0.607 26 152 --- --- --- --- PASS CX3CL1 6376 broad.mit.edu 37 16 57416881 57416881 + Silent SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:57416881G>C uc002eli.2 + 3 1198 c.1131G>C c.(1129-1131)GCG>GCC p.A377A NM_002996 NP_002987 P78423 X3CL1_HUMAN chemokine (C-X3-C motif) ligand 1 precursor 377 Cytoplasmic (Potential). cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity 0 GAGAGATGGCGGAGGGCCTTC 0.587 28 113 --- --- --- --- PASS CDH16 1014 broad.mit.edu 37 16 66950228 66950228 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:66950228C>A uc002eql.2 - 4 307 c.234G>T c.(232-234)CTG>CTT p.L78L CDH16_uc010cdy.2_Silent_p.L78L|CDH16_uc002eqm.2_Silent_p.L78L NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 78 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TGGTCACCAGCAGGAAGCCAG 0.632 4 155 --- --- --- --- PASS SLC9A5 6553 broad.mit.edu 37 16 67289821 67289821 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:67289821C>A uc002esm.2 + 5 962 c.899C>A c.(898-900)TCC>TAC p.S300Y SLC9A5_uc010cee.2_Missense_Mutation_p.S5Y|SLC9A5_uc010vji.1_5'UTR NM_004594 NP_004585 Q14940 SL9A5_HUMAN solute carrier family 9 (sodium/hydrogen 300 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity ovary(1)|pancreas(1) 2 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GCCTCGCTCTCCGCCATTCTT 0.617 4 94 --- --- --- --- PASS HYDIN 54768 broad.mit.edu 37 16 70902522 70902522 + Nonsense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:70902522C>T uc002ezr.2 - 66 11386 c.11258G>A c.(11257-11259)TGG>TAG p.W3753* HYDIN_uc010cfy.2_5'Flank NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 3754 ovary(1)|skin(1) 2 Ovarian(137;0.0654) TACGTCCACCCACTTGACTGT 0.517 16 61 --- --- --- --- PASS CLEC3A 10143 broad.mit.edu 37 16 78062080 78062080 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr16:78062080G>T uc002ffh.3 + 2 273 c.192G>T c.(190-192)CTG>CTT p.L64L NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 64 skeletal system development extracellular region sugar binding 0 TTCAAGCCCTGCAGACAGGTA 0.443 22 49 --- --- --- --- PASS ABR 29 broad.mit.edu 37 17 916363 916363 + Missense_Mutation SNP G C C rs147397030 by1000genomes TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:916363G>C uc002fsd.2 - 17 1943 c.1833C>G c.(1831-1833)GAC>GAG p.D611E ABR_uc002fse.2_Missense_Mutation_p.D565E|ABR_uc010vqf.1_Missense_Mutation_p.D62E|ABR_uc010vqg.1_Missense_Mutation_p.D393E|ABR_uc002fsg.2_Missense_Mutation_p.D574E|ABR_uc002fsh.1_Intron|ABR_uc002fsf.2_5'Flank NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 611 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) TCTCAATCACGTCCGTGTGCC 0.622 7 114 --- --- --- --- PASS SMG6 23293 broad.mit.edu 37 17 2202345 2202345 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:2202345C>T uc002fub.1 - 2 1757 c.1702G>A c.(1702-1704)GAG>AAG p.E568K SMG6_uc002fud.1_Missense_Mutation_p.E537K NM_017575 NP_060045 Q86US8 EST1A_HUMAN Smg-6 homolog, nonsense mediated mRNA decay 568 Potential. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding central_nervous_system(2)|lung(1)|kidney(1) 4 TGCTCTACCTCCTCGGGACTC 0.582 61 506 --- --- --- --- PASS SHPK 23729 broad.mit.edu 37 17 3524666 3524666 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:3524666T>C uc002fvz.1 - 5 791 c.688A>G c.(688-690)ATC>GTC p.I230V NM_013276 NP_037408 Q9UHJ6 SHPK_HUMAN carbohydrate kinase-like 230 carbohydrate metabolic process cytoplasm ATP binding|sedoheptulokinase activity ovary(1) 1 COAD - Colon adenocarcinoma(5;0.0828) GGCTCGGCGATGTCTGGGAGC 0.557 6 146 --- --- --- --- PASS ANKFY1 51479 broad.mit.edu 37 17 4088199 4088199 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:4088199G>A uc002fxq.1 - 12 1651 c.1613C>T c.(1612-1614)GCG>GTG p.A538V ANKFY1_uc002fxn.2_Missense_Mutation_p.A580V|ANKFY1_uc002fxo.2_Missense_Mutation_p.A538V|ANKFY1_uc002fxp.2_Missense_Mutation_p.A537V|ANKFY1_uc010ckp.2_Missense_Mutation_p.A479V NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 538 endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 GACGCTGTCCGCCAAGCTGGT 0.592 6 112 --- --- --- --- PASS MYH3 4621 broad.mit.edu 37 17 10535885 10535885 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:10535885C>T uc002gmq.1 - 33 4941 c.4864G>A c.(4864-4866)GAC>AAC p.D1622N NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1622 Potential. D -> A (in DA2B). muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCATTCAGGTCCCCCTCCATC 0.587 117 447 --- --- --- --- PASS ULK2 9706 broad.mit.edu 37 17 19687111 19687111 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:19687111C>A uc002gwm.3 - 22 2868 c.2359G>T c.(2359-2361)GCT>TCT p.A787S ULK2_uc002gwn.2_Missense_Mutation_p.A787S NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 787 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) AGGCTGGGAGCTGCCTCTGCT 0.652 38 91 --- --- --- --- PASS NOS2 4843 broad.mit.edu 37 17 26110067 26110067 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:26110067G>A uc002gzu.2 - 6 797 c.533C>T c.(532-534)ACC>ATC p.T178I NOS2_uc010crh.1_Missense_Mutation_p.T178I|NOS2_uc010wab.1_Missense_Mutation_p.T178I NM_000625 NP_000616 P35228 NOS2_HUMAN nitric oxide synthase 2A 178 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding skin(2)|ovary(1)|breast(1) 4 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) CAGTTGGTAGGTTCCTGTTGT 0.547 36 186 --- --- --- --- PASS NLK 51701 broad.mit.edu 37 17 26370294 26370294 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:26370294C>T uc010crj.2 + 1 607 c.395C>T c.(394-396)CCA>CTA p.P132L NLK_uc010cri.1_RNA NM_016231 NP_057315 Q9UBE8 NLK_HUMAN nemo like kinase 132 intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding ovary(1)|lung(1)|central_nervous_system(1) 3 all_lung(13;0.000343)|Lung NSC(42;0.00184) UCEC - Uterine corpus endometrioid carcinoma (53;0.168) TCGCATCATCCACAGCAGCAG 0.547 42 187 --- --- --- --- PASS POLDIP2 26073 broad.mit.edu 37 17 26680782 26680782 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:26680782A>G uc002haz.2 - 7 509 c.377T>C c.(376-378)GTG>GCG p.V126A POLDIP2_uc010wag.1_RNA NM_015584 NP_056399 Q9Y2S7 PDIP2_HUMAN DNA polymerase delta interacting protein 2 126 mitochondrial nucleoid|nucleus 0 all_lung(13;0.000354)|Lung NSC(42;0.00115) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) TTTGCCTTTCACCTCCTTGGA 0.537 13 391 --- --- --- --- PASS CCL4 6351 broad.mit.edu 37 17 34431319 34431319 + Silent SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:34431319C>G uc002hkw.1 + 1 100 c.21C>G c.(19-21)GTC>GTG p.V7V CCL4_uc002hkx.1_RNA NM_002984 NP_002975 P13236 CCL4_HUMAN chemokine C-C motif ligand 4 isoform 1 7 cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication extracellular space chemokine activity|receptor signaling protein tyrosine kinase activity 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GCGTGACTGTCCTGTCTCTCC 0.517 142 693 --- --- --- --- PASS FBXO47 494188 broad.mit.edu 37 17 37107844 37107844 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:37107844G>C uc002hrc.2 - 6 806 c.606C>G c.(604-606)TGC>TGG p.C202W NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN F-box protein 47 202 0 CTGGTTTGCTGCAGACAGCCA 0.318 21 125 --- --- --- --- PASS KCNH4 23415 broad.mit.edu 37 17 40330146 40330146 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:40330146C>T uc002hzb.2 - 4 890 c.557G>A c.(556-558)CGG>CAG p.R186Q NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H, 186 Cytoplasmic (Potential). regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity large_intestine(1) 1 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TCCCTGGCCCCGGCGGCCAAA 0.592 33 187 --- --- --- --- PASS UBTF 7343 broad.mit.edu 37 17 42289030 42289030 + Nonsense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:42289030G>A uc002igb.2 - 9 1058 c.991C>T c.(991-993)CAG>TAG p.Q331* UBTF_uc002igc.2_Nonsense_Mutation_p.Q294*|UBTF_uc010czs.2_Nonsense_Mutation_p.Q331*|UBTF_uc002igd.2_Nonsense_Mutation_p.Q294*|UBTF_uc010czt.2_Nonsense_Mutation_p.Q331*|UBTF_uc002ige.2_Nonsense_Mutation_p.Q294* NM_014233 NP_055048 P17480 UBF1_HUMAN upstream binding transcription factor, RNA 331 HMG box 3. positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding 0 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) AGCTTCCACTGCTGGCTGCAC 0.587 35 169 --- --- --- --- PASS KIF18B 146909 broad.mit.edu 37 17 43010134 43010134 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:43010134G>T uc010wji.1 - 9 1246 c.1145C>A c.(1144-1146)GCT>GAT p.A382D KIF18B_uc002iht.2_Missense_Mutation_p.A382D|KIF18B_uc010wjh.1_Missense_Mutation_p.A382D NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) CTTCCTCAGAGCGGCTACCTG 0.642 26 135 --- --- --- --- PASS KIF18B 146909 broad.mit.edu 37 17 43013655 43013655 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:43013655G>T uc010wji.1 - 2 159 c.58C>A c.(58-60)CGG>AGG p.R20R KIF18B_uc002iht.2_Silent_p.R20R|KIF18B_uc010wjh.1_Silent_p.R20R NM_001080443 NP_001073912 kinesin family member 18B ovary(2) 2 Prostate(33;0.155) TCCAGCTCCCGAGGGGTGGGG 0.647 4 14 --- --- --- --- PASS OSBPL7 114881 broad.mit.edu 37 17 45897348 45897348 + Missense_Mutation SNP C G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:45897348C>G uc002ilx.1 - 3 393 c.190G>C c.(190-192)GGC>CGC p.G64R OSBPL7_uc002ilw.1_5'Flank NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 64 PH. lipid transport lipid binding 0 TTGTGCCAGCCCTTCAGAGGC 0.637 8 41 --- --- --- --- PASS BZRAP1 9256 broad.mit.edu 37 17 56393786 56393786 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:56393786C>T uc002ivx.3 - 15 2859 c.1988G>A c.(1987-1989)AGC>AAC p.S663N BZRAP1_uc010dcs.2_Missense_Mutation_p.S603N|BZRAP1_uc010wnt.1_Missense_Mutation_p.S663N NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 663 SH3 1. mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) AGGGACCCACCTATAACGTGC 0.657 4 168 --- --- --- --- PASS TBX4 9496 broad.mit.edu 37 17 59557523 59557523 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:59557523G>A uc002izi.2 + 7 909 c.864G>A c.(862-864)CCG>CCA p.P288P TBX4_uc010ddo.2_Silent_p.P288P|TBX4_uc010woy.1_Silent_p.P288P NM_018488 NP_060958 P57082 TBX4_HUMAN T-box 4 288 leg morphogenesis|skeletal system morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity skin(2) 2 CAGCCACACCGGACGTGGGCC 0.637 22 198 --- --- --- --- PASS UBE2O 63893 broad.mit.edu 37 17 74394577 74394577 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:74394577C>A uc002jrm.3 - 11 1937 c.1872G>T c.(1870-1872)CTG>CTT p.L624L UBE2O_uc002jrn.3_Silent_p.L624L|UBE2O_uc002jrl.3_Silent_p.L227L NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 624 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 CACTCGGCCTCAGCTTGAACC 0.602 OREG0024751 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 185 --- --- --- --- PASS PGS1 9489 broad.mit.edu 37 17 76388642 76388642 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:76388642G>A uc002jvm.2 + 2 241 c.229G>A c.(229-231)GTG>ATG p.V77M PGS1_uc010wtt.1_RNA NM_024419 NP_077733 Q32NB8 PGPS1_HUMAN phosphatidylglycerophosphate synthase 1 77 phospholipid biosynthetic process endoplasmic reticulum|mitochondrion ATP binding|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031) TCCAGAAGGCGTGCACCGGTT 0.537 29 117 --- --- --- --- PASS CSNK1D 1453 broad.mit.edu 37 17 80210985 80210985 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr17:80210985C>A uc002kej.2 - 4 788 c.472G>T c.(472-474)GAT>TAT p.D158Y SLC16A3_uc002kee.2_Intron|CSNK1D_uc002kef.2_Missense_Mutation_p.D158Y|CSNK1D_uc002kei.2_Missense_Mutation_p.D158Y|CSNK1D_uc010wvj.1_Intron|CSNK1D_uc010dil.2_5'Flank|CSNK1D_uc002keh.2_Missense_Mutation_p.D23Y|CSNK1D_uc010dim.1_5'Flank NM_001893 NP_001884 P48730 KC1D_HUMAN casein kinase 1, delta isoform 1 158 Protein kinase. circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway centrosome|cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2) 2 Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155) GTGCGTGCATCCCGGTACTTC 0.592 64 224 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5416197 5416197 + Missense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:5416197T>A uc002kmt.1 - 13 1773 c.1687A>T c.(1687-1689)AGG>TGG p.R563W EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 563 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 AGGTAAGGCCTCCCTGGGCCA 0.557 47 192 --- --- --- --- PASS EPB41L3 23136 broad.mit.edu 37 18 5416198 5416198 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:5416198C>A uc002kmt.1 - 13 1772 c.1686G>T c.(1684-1686)GGG>GGT p.G562G EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron NM_012307 NP_036439 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 562 Spectrin--actin-binding (Potential). cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity ovary(5) 5 GGTAAGGCCTCCCTGGGCCAT 0.562 48 189 --- --- --- --- PASS SYT4 6860 broad.mit.edu 37 18 40850570 40850570 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:40850570G>T uc002law.2 - 4 1383 c.1014C>A c.(1012-1014)ATC>ATA p.I338I SYT4_uc010dng.2_RNA|SYT4_uc010xcm.1_Silent_p.I320I|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 338 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 TCTTCTTGGAGATTCTCTTTT 0.433 27 165 --- --- --- --- PASS ZNF532 55205 broad.mit.edu 37 18 56648807 56648807 + Missense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:56648807T>A uc002lho.2 + 10 3916 c.3369T>A c.(3367-3369)GAT>GAA p.D1123E ZNF532_uc002lhp.2_Missense_Mutation_p.D1121E|ZNF532_uc010xeg.1_Missense_Mutation_p.D1121E|ZNF532_uc002lhr.2_Missense_Mutation_p.D1121E|ZNF532_uc002lhs.2_Missense_Mutation_p.D1121E|ZNF532_uc010xeh.1_Missense_Mutation_p.D211E NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN zinc finger protein 532 1123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 AAATGACAGATGCCACCAATG 0.443 30 143 --- --- --- --- PASS SERPINB8 5271 broad.mit.edu 37 18 61649041 61649041 + Missense_Mutation SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:61649041T>A uc002ljv.2 + 4 562 c.393T>A c.(391-393)CAT>CAA p.H131Q SERPINB8_uc002ljs.1_Missense_Mutation_p.H131Q|SERPINB8_uc002ljt.2_Missense_Mutation_p.H131Q|SERPINB8_uc002lju.2_Missense_Mutation_p.H131Q|SERPINB8_uc010xex.1_5'UTR NM_198833 NP_942130 P50452 SPB8_HUMAN serine (or cysteine) proteinase inhibitor, clade 131 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity skin(1) 1 Esophageal squamous(42;0.129) GCAGGAAGCATATAAATGACT 0.428 55 252 --- --- --- --- PASS RTTN 25914 broad.mit.edu 37 18 67672496 67672496 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:67672496G>A uc002lkp.2 - 48 6601 c.6533C>T c.(6532-6534)ACA>ATA p.T2178I RTTN_uc002lko.2_RNA|RTTN_uc010xfb.1_Missense_Mutation_p.T1266I|RTTN_uc002lkn.2_Missense_Mutation_p.T168I|RTTN_uc010dqp.2_Missense_Mutation_p.T430I NM_173630 NP_775901 Q86VV8 RTTN_HUMAN rotatin 2178 binding ovary(3)|pancreas(2)|skin(1)|breast(1)|central_nervous_system(1) 8 Esophageal squamous(42;0.129) TTTCAAAGCTGTTTTTGCCTA 0.343 6 125 --- --- --- --- PASS TSHZ1 10194 broad.mit.edu 37 18 72998468 72998468 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr18:72998468G>T uc002lly.2 + 2 1534 c.971G>T c.(970-972)GGA>GTA p.G324V NM_005786 NP_005777 Q6ZSZ6 TSH1_HUMAN teashirt family zinc finger 1 369 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GAGCCAGCAGGAATGGCCGCA 0.627 29 87 --- --- --- --- PASS TJP3 27134 broad.mit.edu 37 19 3728466 3728466 + Silent SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:3728466C>T uc010xhv.1 + 1 93 c.93C>T c.(91-93)GCC>GCT p.A31A TJP3_uc010xhs.1_Silent_p.A12A|TJP3_uc010xht.1_Intron|TJP3_uc010xhu.1_Silent_p.A21A|TJP3_uc010xhw.1_Silent_p.A31A NM_014428 NP_055243 O95049 ZO3_HUMAN tight junction protein 3 12 PDZ 1. tight junction protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) AGCACACGGCCACACTGTCCA 0.597 11 37 --- --- --- --- PASS FBN3 84467 broad.mit.edu 37 19 8206868 8206868 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:8206868C>A uc002mjf.2 - 6 716 c.695G>T c.(694-696)TGC>TTC p.C232F NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 232 TB 1. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GCCGCGGCGGCAGGGGTGTGG 0.637 11 50 --- --- --- --- PASS HNRNPM 4670 broad.mit.edu 37 19 8550681 8550681 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:8550681A>G uc010dwe.2 + 14 1449 c.1369A>G c.(1369-1371)ATG>GTG p.M457V HNRNPM_uc010xke.1_Missense_Mutation_p.M403V|HNRNPM_uc010dwd.2_Missense_Mutation_p.M418V|HNRNPM_uc002mka.2_Missense_Mutation_p.M322V|HNRNPM_uc002mkb.1_5'Flank NM_005968 NP_005959 P52272 HNRPM_HUMAN heterogeneous nuclear ribonucleoprotein M 457 8.|27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV]. alternative nuclear mRNA splicing, via spliceosome catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles nucleotide binding|protein domain specific binding|RNA binding 0 CATTGAGCGCATGGGCCCGCT 0.687 27 133 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9068728 9068728 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:9068728A>T uc002mkp.2 - 3 18922 c.18718T>A c.(18718-18720)TTG>ATG p.L6240M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6242 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGCTCTTGCAATGTGGAAGTT 0.493 18 125 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9070944 9070944 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:9070944G>T uc002mkp.2 - 3 16706 c.16502C>A c.(16501-16503)ACA>AAA p.T5501K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5503 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGTCTCTGTTGTTGAGCTGGT 0.473 13 111 --- --- --- --- PASS MUC16 94025 broad.mit.edu 37 19 9071179 9071179 + Missense_Mutation SNP C T T rs138208562 by1000genomes TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:9071179C>T uc002mkp.2 - 3 16471 c.16267G>A c.(16267-16269)GCA>ACA p.A5423T NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 5425 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TTGGTCACTGCGGTGTTTGTG 0.502 68 640 --- --- --- --- PASS DOCK6 57572 broad.mit.edu 37 19 11314989 11314989 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:11314989C>A uc002mqs.3 - 40 5148 c.5107G>T c.(5107-5109)GTG>TTG p.V1703L DOCK6_uc002mqr.3_Missense_Mutation_p.V101L|DOCK6_uc010xlq.1_Missense_Mutation_p.V1042L NM_020812 NP_065863 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1703 DHR-2. blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(2)|skin(1) 3 ACCTCATTCACCGCCTCGTAG 0.592 OREG0025251 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 47 --- --- --- --- PASS ILVBL 10994 broad.mit.edu 37 19 15234201 15234201 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:15234201T>C uc002nam.2 - 3 443 c.322A>G c.(322-324)ATG>GTG p.M108V ILVBL_uc010dzw.2_Missense_Mutation_p.M1V|ILVBL_uc010dzx.1_Missense_Mutation_p.M108V NM_006844 NP_006835 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 108 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity ovary(2) 2 AGGCGGGCCATAGCATCAGCA 0.612 16 63 --- --- --- --- PASS KIAA1683 80726 broad.mit.edu 37 19 18376717 18376717 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:18376717C>A uc002nin.2 - 3 1849 c.1633G>T c.(1633-1635)GGC>TGC p.G545C KIAA1683_uc010ebn.2_Missense_Mutation_p.G545C|KIAA1683_uc010xqe.1_Missense_Mutation_p.G499C NM_025249 NP_079525 Q9H0B3 K1683_HUMAN KIAA1683 isoform b 545 mitochondrion ovary(2) 2 TGGATGGAGCCTGAGGTGTTG 0.587 7 71 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22940611 22940611 + Silent SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:22940611A>G uc010xrh.1 - 5 1827 c.1827T>C c.(1825-1827)ACT>ACC p.T609T NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) GTTTCTTTCCAGTATGAATTA 0.363 11 99 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22941338 22941338 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:22941338C>T uc010xrh.1 - 5 1100 c.1100G>A c.(1099-1101)TGC>TAC p.C367Y NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AGCTTTGCTGCATTCTTCACA 0.358 12 91 --- --- --- --- PASS ZNF99 7652 broad.mit.edu 37 19 22952122 22952122 + Missense_Mutation SNP G C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:22952122G>C uc010xrh.1 - 2 71 c.71C>G c.(70-72)TCG>TGG p.S24W NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) AAATGTCAACGATCCCTGAAA 0.388 15 97 --- --- --- --- PASS LSM14A 26065 broad.mit.edu 37 19 34712450 34712450 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:34712450A>G uc002nvb.3 + 9 1371 c.1175A>G c.(1174-1176)AAT>AGT p.N392S LSM14A_uc002nva.3_Missense_Mutation_p.N392S|LSM14A_uc010xru.1_Missense_Mutation_p.N351S|LSM14A_uc002nvc.3_Missense_Mutation_p.N198S NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 392 TFG box. cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) AGAAGATTAAATGCTGAAACA 0.463 12 65 --- --- --- --- PASS ARHGAP33 115703 broad.mit.edu 37 19 36273406 36273406 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:36273406A>G uc002obr.1 + 13 1302 c.1217A>G c.(1216-1218)TAT>TGT p.Y406C ARHGAP33_uc002obs.1_Missense_Mutation_p.Y406C|ARHGAP33_uc002obt.1_Missense_Mutation_p.Y270C|ARHGAP33_uc010eel.2_5'UTR|ARHGAP33_uc002obv.1_5'Flank NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 406 Rho-GAP. cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 TACCAGCTCTATGGGAAGTTC 0.617 16 65 --- --- --- --- PASS ARHGAP33 115703 broad.mit.edu 37 19 36276001 36276001 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:36276001G>A uc002obr.1 + 17 1799 c.1714G>A c.(1714-1716)GCG>ACG p.A572T ARHGAP33_uc002obs.1_Missense_Mutation_p.A572T|ARHGAP33_uc002obt.1_Missense_Mutation_p.A436T|ARHGAP33_uc010eel.2_Missense_Mutation_p.A160T|ARHGAP33_uc002obv.1_Missense_Mutation_p.A160T NM_052948 NP_443180 O14559 RHG33_HUMAN sorting nexin 26 572 cell communication|protein transport|signal transduction intracellular GTPase activator activity|phosphatidylinositol binding|protein binding skin(2)|ovary(1)|pancreas(1) 4 GGCCTCACCTGCGGAAAGGTG 0.701 5 9 --- --- --- --- PASS ZNF585A 199704 broad.mit.edu 37 19 37644466 37644466 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:37644466C>T uc002ofo.1 - 5 566 c.335G>A c.(334-336)AGT>AAT p.S112N ZNF585A_uc002ofm.1_Missense_Mutation_p.S57N|ZNF585A_uc002ofn.1_Missense_Mutation_p.S57N NM_199126 NP_954577 Q6P3V2 Z585A_HUMAN zinc finger protein 585A 112 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTGTTTATAACTGAGGATTTT 0.353 18 331 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38948696 38948696 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:38948696G>T uc002oit.2 + 18 2061 c.1931G>T c.(1930-1932)CGC>CTC p.R644L RYR1_uc002oiu.2_Missense_Mutation_p.R644L NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 644 Cytoplasmic.|B30.2/SPRY 1. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCAGCATCCGCCCCAACATC 0.557 49 176 --- --- --- --- PASS FBXO17 115290 broad.mit.edu 37 19 39439283 39439283 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:39439283T>C uc002okg.1 - 3 557 c.385A>G c.(385-387)AAC>GAC p.N129D SARS2_uc010xuq.1_5'UTR|FBXO17_uc002okf.1_Missense_Mutation_p.N138D NM_024907 NP_079183 Q96EF6 FBX17_HUMAN F-box protein FBG4 isoform 2 129 FBA. protein catabolic process SCF ubiquitin ligase complex glycoprotein binding 0 all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) GCCCAGCCGTTCCCGCCATGC 0.592 4 105 --- --- --- --- PASS HIPK4 147746 broad.mit.edu 37 19 40886743 40886743 + Silent SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:40886743G>A uc002onp.2 - 3 1440 c.1155C>T c.(1153-1155)GCC>GCT p.A385A NM_144685 NP_653286 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 385 cytoplasm ATP binding|protein serine/threonine kinase activity ovary(1)|stomach(1) 2 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) CATCTTCTGCGGCCACGACGG 0.662 8 201 --- --- --- --- PASS CYP2A6 1548 broad.mit.edu 37 19 41354251 41354251 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:41354251C>T uc002opl.3 - 4 548 c.527G>A c.(526-528)CGC>CAC p.R176H CYP2A6_uc010ehe.1_5'UTR|CYP2A6_uc010ehf.1_RNA NM_000762 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, 176 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) GGAGACTGTGCGGCTCAGGAA 0.527 8 228 --- --- --- --- PASS AXL 558 broad.mit.edu 37 19 41744043 41744043 + Silent SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:41744043G>T uc010ehj.2 + 7 1168 c.978G>T c.(976-978)GTG>GTT p.V326V CYP2F1_uc010xvw.1_Intron|AXL_uc010ehi.1_Silent_p.V326V|AXL_uc010ehk.2_Silent_p.V326V NM_021913 NP_068713 P30530 UFO_HUMAN AXL receptor tyrosine kinase isoform 1 326 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1) 13 GGCTTCCTGTGGAGACGCCGG 0.622 31 210 --- --- --- --- PASS CIC 23152 broad.mit.edu 37 19 42795618 42795618 + Missense_Mutation SNP G C C rs71336809 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:42795618G>C uc002otf.1 + 10 2738 c.2698G>C c.(2698-2700)GCC>CCC p.A900P NM_015125 NP_055940 Q96RK0 CIC_HUMAN capicua homolog 900 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(4)|breast(4)|lung(1)|central_nervous_system(1)|skin(1) 11 Prostate(69;0.00682) ACCCCCCAAAGGTGAGACCTG 0.617 T DUX4 soft tissue sarcoma 17 167 --- --- --- --- PASS GRLF1 2909 broad.mit.edu 37 19 47423517 47423517 + Nonsense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:47423517C>T uc010ekv.2 + 1 1585 c.1585C>T c.(1585-1587)CGA>TGA p.R529* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 529 FF 4. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AGAGGAACAGCGATTTAAAGC 0.443 51 298 --- --- --- --- PASS CA11 770 broad.mit.edu 37 19 49142814 49142814 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:49142814G>T uc002pjz.1 - 6 1194 c.632C>A c.(631-633)TCC>TAC p.S211Y SEC1_uc010xzv.1_Intron|SEC1_uc002pka.2_Intron|SEC1_uc010xzw.1_Intron|SEC1_uc010ema.2_Intron|DBP_uc002pjx.3_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank NM_001217 NP_001208 O75493 CAH11_HUMAN carbonic anhydrase XI precursor 211 extracellular region 0 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016) ACTCTTGTAGGAGATGCGAGT 0.577 13 62 --- --- --- --- PASS KCNC3 3748 broad.mit.edu 37 19 50823879 50823879 + Missense_Mutation SNP G A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:50823879G>A uc002pru.1 - 3 2436 c.2141C>T c.(2140-2142)GCC>GTC p.A714V KCNC3_uc002prt.1_Missense_Mutation_p.A350V NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 714 Cytoplasmic (Potential). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) AGGGGAAGGGGCATAGTCGGT 0.662 4 43 --- --- --- --- PASS EPN1 29924 broad.mit.edu 37 19 56203162 56203162 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr19:56203162C>A uc002qlw.2 + 7 1147 c.805C>A c.(805-807)CCT>ACT p.P269T EPN1_uc002qlv.2_Missense_Mutation_p.P244T|EPN1_uc010etd.2_Missense_Mutation_p.P269T|EPN1_uc002qlx.2_Missense_Mutation_p.P355T NM_001130072 NP_001123544 Q9Y6I3 EPN1_HUMAN epsin 1 isoform b 269 Ala/Gly/Pro-rich. endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway coated pit|cytoplasm|nucleus|plasma membrane lipid binding 0 Colorectal(82;0.00244)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.112) GGCCCCAGCTCCTGCCCCGAC 0.697 4 183 --- --- --- --- PASS C20orf54 113278 broad.mit.edu 37 20 744208 744208 + Missense_Mutation SNP A C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr20:744208A>C uc002wed.3 - 3 1346 c.1007T>G c.(1006-1008)CTG>CGG p.L336R C20orf54_uc002wee.2_Missense_Mutation_p.L336R NM_033409 NP_212134 Q9NQ40 RFT2_HUMAN hypothetical protein LOC113278 precursor 336 Helical; (Potential). sensory perception of sound integral to plasma membrane riboflavin transporter activity ovary(2) 2 GGTGGCAGCCAGGTGGTAGGC 0.587 19 148 --- --- --- --- PASS IDH3B 3420 broad.mit.edu 37 20 2644400 2644400 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr20:2644400T>C uc002wgp.2 - 3 131 c.122A>G c.(121-123)GAG>GGG p.E41G IDH3B_uc002wgq.2_Missense_Mutation_p.E41G|IDH3B_uc002wgr.2_5'UTR|IDH3B_uc010zpz.1_Missense_Mutation_p.E41G NM_006899 NP_008830 O43837 IDH3B_HUMAN isocitrate dehydrogenase 3, beta subunit isoform 41 isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding 0 NADH(DB00157) CCTCACGTCCTCGGCCTCAAT 0.622 11 106 --- --- --- --- PASS SLC23A2 9962 broad.mit.edu 37 20 4843520 4843520 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr20:4843520C>A uc002wlg.1 - 14 1765 c.1390G>T c.(1390-1392)GCC>TCC p.A464S SLC23A2_uc010zqr.1_Missense_Mutation_p.A349S|SLC23A2_uc002wlh.1_Missense_Mutation_p.A464S NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 464 Helical; (Potential). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 AGCATGAGGGCTGCTCCGCAC 0.572 12 66 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47244106 47244106 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr20:47244106C>A uc002xtw.1 - 39 4940 c.4917G>T c.(4915-4917)CAG>CAT p.Q1639H PREX1_uc002xtv.1_Missense_Mutation_p.Q936H NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1639 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CCTGGGGCATCTGGTCCTTGA 0.647 22 126 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47258756 47258756 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr20:47258756C>A uc002xtw.1 - 29 3748 c.3725G>T c.(3724-3726)AGC>ATC p.S1242I PREX1_uc002xtv.1_Missense_Mutation_p.S539I NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 1242 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GAAAGCCCGGCTCATGACTGG 0.577 21 64 --- --- --- --- PASS KRTAP11-1 337880 broad.mit.edu 37 21 32253716 32253716 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr21:32253716G>T uc002yov.2 - 1 159 c.128C>A c.(127-129)CCC>CAC p.P43H NM_175858 NP_787054 Q8IUC1 KR111_HUMAN keratin associated protein 11-1 43 keratin filament structural molecule activity pancreas(1) 1 GAAGGAACTGGGCAAACAGAT 0.577 12 95 --- --- --- --- PASS TRPM2 7226 broad.mit.edu 37 21 45858950 45858950 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr21:45858950G>T uc002zet.1 + 31 4381 c.4168G>T c.(4168-4170)GGC>TGC p.G1390C TRPM2_uc002zeu.1_Missense_Mutation_p.G1390C|TRPM2_uc002zew.1_Missense_Mutation_p.G1390C|TRPM2_uc010gpt.1_Missense_Mutation_p.G1440C|TRPM2_uc002zex.1_Missense_Mutation_p.G1176C|TRPM2_uc002zey.1_Missense_Mutation_p.G869C|TRPM2_uc011aff.1_Missense_Mutation_p.G71C NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 1390 NAD.|Nudix hydrolase.|Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTCTGTCCAGGGCTCCCGGGA 0.657 10 73 --- --- --- --- PASS KRTAP10-1 386677 broad.mit.edu 37 21 45959294 45959294 + Missense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr21:45959294G>T uc002zfh.1 - 1 785 c.740C>A c.(739-741)CCT>CAT p.P247H C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198691 NP_941964 P60331 KR101_HUMAN keratin associated protein 10-1 247 22.|24 X 5 AA repeats of C-C-X(3). keratin filament skin(1) 1 GGAGGAGACAGGCATACAGCA 0.721 10 67 --- --- --- --- PASS POFUT2 23275 broad.mit.edu 37 21 46702334 46702334 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr21:46702334C>T uc002zhc.2 - 4 593 c.568G>A c.(568-570)GTC>ATC p.V190I POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.V190I|POFUT2_uc011afp.1_Missense_Mutation_p.V190I NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 190 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) AGACAGGAGACGTTTAGACCC 0.557 21 61 --- --- --- --- PASS MAPK1 5594 broad.mit.edu 37 22 22160146 22160146 + Missense_Mutation SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr22:22160146T>C uc002zvn.2 - 3 725 c.485A>G c.(484-486)GAT>GGT p.D162G MAPK1_uc002zvo.2_Missense_Mutation_p.D162G|MAPK1_uc010gtk.1_Missense_Mutation_p.D162G NM_002745 NP_002736 P28482 MK01_HUMAN mitogen-activated protein kinase 1 162 Protein kinase. activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) GACCTTGAGATCACAGGTGGT 0.373 38 237 --- --- --- --- PASS XRCC6 2547 broad.mit.edu 37 22 42024181 42024181 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr22:42024181A>G uc003bao.1 + 3 212 c.142A>G c.(142-144)ATG>GTG p.M48V XRCC6_uc003bap.1_Missense_Mutation_p.M48V|XRCC6_uc011apc.1_Intron|XRCC6_uc003baq.1_Missense_Mutation_p.M48V|XRCC6_uc003bar.1_Missense_Mutation_p.M48V|XRCC6_uc003bas.1_Intron NM_001469 NP_001460 P12956 XRCC6_HUMAN ATP-dependent DNA helicase II, 70 kDa subunit 48 Ser-rich (potentially targets for phosphorylation). DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex 5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding skin(2)|ovary(1)|lung(1)|kidney(1) 5 CTCCAAGGCTATGTTTGAATC 0.323 Direct_reversal_of_damage|NHEJ 5 169 --- --- --- --- PASS CERK 64781 broad.mit.edu 37 22 47089397 47089397 + Nonsense_Mutation SNP G T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr22:47089397G>T uc003bia.2 - 10 1160 c.1053C>A c.(1051-1053)TGC>TGA p.C351* CERK_uc010hae.2_Nonsense_Mutation_p.C153* NM_022766 NP_073603 Q8TCT0 CERK1_HUMAN ceramide kinase 351 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|ceramide metabolic process integral to membrane of membrane fraction|membrane|nucleus ATP binding|ceramide kinase activity|diacylglycerol kinase activity|magnesium ion binding skin(1) 1 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGCAAACAAAGCATCTGAAAG 0.433 31 104 --- --- --- --- PASS P2RY8 286530 broad.mit.edu 37 X 1584630 1584630 + Silent SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:1584630C>A uc004cpz.2 - 2 1070 c.822G>T c.(820-822)GTG>GTT p.V274V NM_178129 NP_835230 Q86VZ1 P2RY8_HUMAN G-protein coupled purinergic receptor P2Y8 274 Extracellular (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(5) 5 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) TGAGCTTGTACACGTGGTAGT 0.557 T CRLF2 B-ALL|Downs associated ALL 15 92 --- --- --- --- PASS STS 412 broad.mit.edu 37 X 7177621 7177621 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:7177621A>G uc004cry.3 + 5 874 c.629A>G c.(628-630)CAC>CGC p.H210R NM_000351 NP_000342 P08842 STS_HUMAN steryl-sulfatase precursor 210 Cytoplasmic. female pregnancy|steroid catabolic process endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane metal ion binding|steryl-sulfatase activity central_nervous_system(1) 1 Colorectal(8;0.0136)|Medulloblastoma(8;0.184) Estrone(DB00655) GGGCTACTCCACGTGCCTCTA 0.557 Ichthyosis 22 51 --- --- --- --- PASS ZNF182 7569 broad.mit.edu 37 X 47836919 47836919 + Silent SNP T C C TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:47836919T>C uc004dir.2 - 7 913 c.567A>G c.(565-567)AAA>AAG p.K189K ZNF182_uc004dis.2_Silent_p.K170K|ZNF182_uc004dit.2_Silent_p.K189K|ZNF182_uc011mlu.1_Silent_p.K169K NM_006962 NP_008893 P17025 ZN182_HUMAN zinc finger protein 21 isoform 1 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|lung(1) 3 GGAAGAACAATTTTGCACATC 0.353 25 50 --- --- --- --- PASS IQSEC2 23096 broad.mit.edu 37 X 53279921 53279921 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:53279921C>A uc004dsd.2 - 5 2038 c.1837G>T c.(1837-1839)GGC>TGC p.G613C IQSEC2_uc004dsc.2_Missense_Mutation_p.G408C NM_001111125 NP_001104595 Q5JU85 IQEC2_HUMAN IQ motif and Sec7 domain 2 isoform1 603 Pro-rich. regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity ovary(3) 3 TGGACAGAGCCGCGATCTGAG 0.662 9 5 --- --- --- --- PASS ARHGEF9 23229 broad.mit.edu 37 X 62917183 62917183 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:62917183C>T uc004dvl.2 - 4 1222 c.383G>A c.(382-384)GGC>GAC p.G128D ARHGEF9_uc004dvj.1_Missense_Mutation_p.G17D|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc011mos.1_Missense_Mutation_p.G107D|ARHGEF9_uc004dvm.1_Missense_Mutation_p.G107D|ARHGEF9_uc011mot.1_Missense_Mutation_p.G75D|ARHGEF9_uc004dvn.2_Missense_Mutation_p.G135D NM_015185 NP_056000 O43307 ARHG9_HUMAN Cdc42 guanine exchange factor 9 128 DH. apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol Rho guanyl-nucleotide exchange factor activity ovary(5)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 8 CTTCAGATAGCCCTGTAGACA 0.353 14 24 --- --- --- --- PASS TSIX 9383 broad.mit.edu 37 X 73042638 73042638 + RNA SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:73042638C>A uc004ebn.2 + 1 c.30599C>A XIST_uc004ebm.1_RNA NR_003255 Homo sapiens XIST antisense RNA (non-protein coding) (TSIX), non-coding RNA. 0 AAAGCCCTCTCTTATTCCCAC 0.343 5 44 --- --- --- --- PASS UPRT 139596 broad.mit.edu 37 X 74516241 74516241 + Missense_Mutation SNP C T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:74516241C>T uc004ecb.1 + 3 623 c.494C>T c.(493-495)CCA>CTA p.P165L UPRT_uc010nlu.1_Missense_Mutation_p.P165L|UPRT_uc004ecc.1_RNA|UPRT_uc004ecd.1_Missense_Mutation_p.P165L|UPRT_uc004ece.1_Missense_Mutation_p.P29L NM_145052 NP_659489 Q96BW1 UPP_HUMAN uracil phosphoribosyltransferase (FUR1) homolog 165 nucleoside metabolic process cytoplasm|nucleus 0 GTGACCACTCCAACAGGTAAC 0.383 14 76 --- --- --- --- PASS XIAP 331 broad.mit.edu 37 X 123019959 123019959 + Missense_Mutation SNP A G G TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:123019959A>G uc010nqu.2 + 2 573 c.447A>G c.(445-447)ATA>ATG p.I149M XIAP_uc004etx.2_Missense_Mutation_p.I149M|XIAP_uc010nqv.2_Intron NM_001167 NP_001158 P98170 XIAP_HUMAN baculoviral IAP repeat-containing protein 4 149 Interaction with caspase-7. I->A: Reduced inhibition of caspase-3. anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus cytosol caspase inhibitor activity|ligase activity|protein binding|zinc ion binding ovary(1)|lung(1) 2 TTGTAGATATATCAGACACCA 0.443 X-linked_Lymphoproliferative_syndrome 41 97 --- --- --- --- PASS ENOX2 10495 broad.mit.edu 37 X 129804102 129804102 + Missense_Mutation SNP C A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:129804102C>A uc004evw.2 - 8 1036 c.618G>T c.(616-618)CAG>CAT p.Q206H ENOX2_uc004evx.2_Missense_Mutation_p.Q177H|ENOX2_uc004evy.2_Missense_Mutation_p.Q177H|ENOX2_uc004evv.2_Missense_Mutation_p.Q33H NM_182314 NP_872114 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 isoform b 206 RRM. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity ovary(1) 1 CATCTCGAGCCTGTGCGAAAT 0.488 20 47 --- --- --- --- PASS ATP11C 286410 broad.mit.edu 37 X 138908947 138908947 + Silent SNP T A A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrX:138908947T>A uc004faz.2 - 2 171 c.72A>T c.(70-72)ACA>ACT p.T24T ATP11C_uc004fba.2_Silent_p.T24T NM_173694 NP_775965 Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C isoform a 24 Cytoplasmic (Potential). ATP biosynthetic process 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(5)|large_intestine(3) 8 Acute lymphoblastic leukemia(192;0.000127) CAACAAACACTGTGCGTGTGC 0.388 29 53 --- --- --- --- PASS AMELY 266 broad.mit.edu 37 Y 6738083 6738083 + Missense_Mutation SNP A T T TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chrY:6738083A>T uc004fra.1 - 2 78 c.66T>A c.(64-66)CAT>CAA p.H22Q AMELY_uc004fqz.2_Missense_Mutation_p.H22Q NM_001143 NP_001134 Q99218 AMELY_HUMAN amelogenin, Y-linked precursor 22 biomineral tissue development proteinaceous extracellular matrix structural constituent of tooth enamel 0 GGTGCCCAGGATGAGGTGGTA 0.254 18 171 --- --- --- --- PASS KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA - - rs144216147 TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 Somatic Phase_I Capture Illumina GAIIx 7c7604fe-8321-46cb-ac34-0e7994b8853b 0f742fdf-b0ec-4c30-b82d-e9c2c6e1b123 g.chr11:1651191_1651199delGGCTGTGGA uc001lty.2 + 1 159_167 c.121_129delGGCTGTGGA c.(121-129)GGCTGTGGAdel p.GCG47del NM_001001480 NP_001001480 Q701N2 KRA55_HUMAN keratin associated protein 5-5 47_49 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) ctgtggctccggctgtggaggctgtgggg 0.129 18 17 --- --- --- ---