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 DVL1 1855 broad.mit.edu 37 1 1284316 1284316 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:1284316C>A uc001aer.3 - 1 177 c.130G>T c.(130-132)GCC>TCC p.A44S NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 44 DIX. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AATTTGTAGGCGTGCACGGGC 0.682 6 45 --- --- --- --- PASS VWA1 64856 broad.mit.edu 37 1 1372497 1372497 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:1372497C>T uc001afs.2 + 2 484 c.264C>T c.(262-264)TTC>TTT p.F88F VWA1_uc001afr.2_Intron NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 88 VWFA. basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) AGTTCCCCTTCGGCCAGCACA 0.682 9 33 --- --- --- --- PASS RERE 473 broad.mit.edu 37 1 8525994 8525994 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:8525994C>T uc001ape.2 - 12 2004 c.1194G>A c.(1192-1194)GAG>GAA p.E398E RERE_uc001apf.2_Silent_p.E398E|RERE_uc010nzx.1_Silent_p.E130E|RERE_uc001aph.1_Silent_p.E398E NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 398 SANT. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CCACTTCGTCCTCGGTCCAGC 0.582 22 98 --- --- --- --- PASS UBE4B 10277 broad.mit.edu 37 1 10207138 10207138 + Missense_Mutation SNP G A A rs147329205 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:10207138G>A uc001aqs.3 + 19 3294 c.2581G>A c.(2581-2583)GCA>ACA p.A861T UBE4B_uc001aqr.3_Missense_Mutation_p.A732T|UBE4B_uc010oai.1_RNA|UBE4B_uc010oaj.1_Missense_Mutation_p.A316T|UBE4B_uc001aqt.1_Missense_Mutation_p.A201T NM_001105562 NP_001099032 O95155 UBE4B_HUMAN ubiquitination factor E4B isoform 1 861 apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV cytoplasm|ubiquitin ligase complex enzyme binding ovary(2)|skin(2) 4 all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046) CCTGGACCCCGCATATCCCGA 0.493 8 612 --- --- --- --- PASS KIF1B 23095 broad.mit.edu 37 1 10328223 10328223 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:10328223A>G uc001aqx.3 + 7 824 c.622A>G c.(622-624)ACA>GCA p.T208A KIF1B_uc001aqv.3_Missense_Mutation_p.T208A|KIF1B_uc001aqw.3_Missense_Mutation_p.T208A|KIF1B_uc001aqy.2_Missense_Mutation_p.T208A|KIF1B_uc001aqz.2_Missense_Mutation_p.T208A|KIF1B_uc001ara.2_Missense_Mutation_p.T208A|KIF1B_uc001arb.2_Missense_Mutation_p.T208A|KIF1B_uc009vmt.2_RNA NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 208 Kinesin-motor. anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) AGTGGCAGCTACAAACATGAA 0.423 3 30 --- --- --- --- PASS CELA2A 63036 broad.mit.edu 37 1 15788132 15788132 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:15788132T>A uc001awk.2 + 3 232 c.206T>A c.(205-207)CTG>CAG p.L69Q NM_033440 NP_254275 P08217 CEL2A_HUMAN elastase 2A preproprotein 69 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGCTGGGTCCTGACGGCTGCC 0.602 46 138 --- --- --- --- PASS HSPB7 27129 broad.mit.edu 37 1 16342218 16342218 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:16342218G>C uc001axo.2 - 3 1197 c.370C>G c.(370-372)CAC>GAC p.H124D HSPB7_uc001axp.2_Missense_Mutation_p.H207D|HSPB7_uc001axq.2_Missense_Mutation_p.H216D|HSPB7_uc001axr.2_Missense_Mutation_p.H217D|HSPB7_uc001axs.2_Missense_Mutation_p.H199D NM_014424 NP_055239 Q9UBY9 HSPB7_HUMAN cardiovascular heat shock protein 124 regulation of heart contraction|response to heat|response to unfolded protein Cajal body protein C-terminus binding 0 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649) TGGCACTTGTGAGCGAAGGTG 0.672 20 73 --- --- --- --- PASS LDLRAD2 401944 broad.mit.edu 37 1 22142441 22142441 + Missense_Mutation SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:22142441T>G uc001bfg.1 + 3 704 c.517T>G c.(517-519)TGT>GGT p.C173G NM_001013693 NP_001013715 Q5SZI1 LRAD2_HUMAN low density lipoprotein receptor class A domain 173 Extracellular (Potential).|LDL-receptor class A. integral to membrane receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) CTCAGGACCTTGTGGTGCCTA 0.627 32 137 --- --- --- --- PASS XKR8 55113 broad.mit.edu 37 1 28293671 28293671 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:28293671C>T uc001bph.1 + 3 1225 c.1148C>T c.(1147-1149)CCC>CTC p.P383L NM_018053 NP_060523 Q9H6D3 XKR8_HUMAN XK, Kell blood group complex subunit-related 383 integral to membrane 0 Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526) AAGTTTTTCCCCAAGGCTAAG 0.567 24 131 --- --- --- --- PASS KCNQ4 9132 broad.mit.edu 37 1 41303990 41303990 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:41303990C>A uc001cgh.1 + 14 1965 c.1883C>A c.(1882-1884)TCC>TAC p.S628Y KCNQ4_uc001cgi.1_Missense_Mutation_p.S574Y NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 628 |Cytoplasmic.|A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) CAGGTGCAGTCCATCGAGCAC 0.721 50 153 --- --- --- --- PASS KCNQ4 9132 broad.mit.edu 37 1 41303991 41303991 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:41303991C>T uc001cgh.1 + 14 1966 c.1884C>T c.(1882-1884)TCC>TCT p.S628S KCNQ4_uc001cgi.1_Silent_p.S574S NM_004700 NP_004691 P56696 KCNQ4_HUMAN potassium voltage-gated channel KQT-like protein 628 |Cytoplasmic.|A-domain (Tetramerization). sensory perception of sound basal plasma membrane|voltage-gated potassium channel complex central_nervous_system(1) 1 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.38e-17) AGGTGCAGTCCATCGAGCACA 0.726 50 157 --- --- --- --- PASS C1orf210 149466 broad.mit.edu 37 1 43748952 43748952 + Translation_Start_Site SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:43748952G>C uc001cit.3 - 2 224 c.-10C>G c.(-12--8)ATCAG>ATGAG NM_182517 NP_872323 Q8IVY1 CA210_HUMAN hypothetical protein LOC149466 integral to membrane 0 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGAGGGGCCTGATGACACCAG 0.577 19 82 --- --- --- --- PASS MAST2 23139 broad.mit.edu 37 1 46489553 46489553 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:46489553C>T uc001cov.2 + 15 1964 c.1681C>T c.(1681-1683)CGT>TGT p.R561C MAST2_uc001cow.2_Missense_Mutation_p.R561C|MAST2_uc001coy.1_Missense_Mutation_p.R235C|MAST2_uc001coz.1_Missense_Mutation_p.R446C|MAST2_uc009vya.2_Missense_Mutation_p.R483C|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 561 Protein kinase. regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTTCGTGGAGCGTGACATACT 0.537 43 83 --- --- --- --- PASS ZFYVE9 9372 broad.mit.edu 37 1 52704579 52704579 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:52704579C>G uc001cto.2 + 4 1662 c.1490C>G c.(1489-1491)TCC>TGC p.S497C ZFYVE9_uc001ctn.2_Missense_Mutation_p.S497C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S497C NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 497 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 ACTTTACCCTCCAAAGAAGAT 0.383 51 132 --- --- --- --- PASS LEPROT 54741 broad.mit.edu 37 1 65897503 65897503 + Nonsense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:65897503C>A uc001dcf.2 + 4 386 c.297C>A c.(295-297)TGC>TGA p.C99* LEPR_uc001dcg.2_Intron|LEPR_uc001dch.2_Intron|LEPR_uc001dci.2_Intron|LEPR_uc009waq.2_Intron|LEPROT_uc009wap.2_Nonsense_Mutation_p.C108* NM_017526 NP_059996 O15243 OBRG_HUMAN leptin receptor gene-related protein 99 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) GGGGAGCCTGCGGCCTTGTGT 0.398 32 68 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75037713 75037713 + Silent SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:75037713C>G uc001dgg.2 - 14 3900 c.3681G>C c.(3679-3681)GTG>GTC p.V1227V NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 1227 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 CAGGGGCCTGCACCTTTCCTG 0.632 25 79 --- --- --- --- PASS C1orf88 128344 broad.mit.edu 37 1 111892811 111892811 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:111892811T>A uc001eaw.2 + 5 553 c.473T>A c.(472-474)GTT>GAT p.V158D C1orf88_uc001eax.2_Missense_Mutation_p.V125D|C1orf88_uc009wge.1_Silent_p.G81G|C1orf88_uc001eay.2_Missense_Mutation_p.V71D NM_181643 NP_857594 Q8TCI5 CA088_HUMAN hypothetical protein LOC128344 158 ovary(1)|skin(1) 2 all_cancers(81;3.21e-05)|all_epithelial(167;1.19e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0239)|Colorectal(144;0.0301)|all cancers(265;0.0677)|Epithelial(280;0.0897)|COAD - Colon adenocarcinoma(174;0.116)|LUSC - Lung squamous cell carcinoma(189;0.135) TGGGCTCAGGTTCCATGTCTA 0.398 69 242 --- --- --- --- PASS BCAN 63827 broad.mit.edu 37 1 156618367 156618367 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:156618367G>T uc001fpp.2 + 6 1113 c.777G>T c.(775-777)CTG>CTT p.L259L BCAN_uc001fpo.2_Silent_p.L259L NM_021948 NP_068767 Q96GW7 PGCB_HUMAN brevican isoform 1 259 Link 2. cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding ovary(1)|pancreas(1) 2 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAGGAGAACTGTTCCTGGGTG 0.338 48 179 --- --- --- --- PASS FCRL3 115352 broad.mit.edu 37 1 157668205 157668205 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:157668205G>C uc001frb.2 - 4 559 c.267C>G c.(265-267)CTC>CTG p.L89L FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Silent_p.L89L|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'Flank|FCRL3_uc001frc.1_Silent_p.L89L NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 89 Ig-like C2-type 1.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) CGGCATCACTGAGGGAGGATC 0.463 49 289 --- --- --- --- PASS CRP 1401 broad.mit.edu 37 1 159683350 159683350 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:159683350C>A uc001ftw.2 - 2 744 c.640G>T c.(640-642)GGC>TGC p.G214C CRP_uc001ftx.1_Missense_Mutation_p.G81C|CRP_uc001fty.1_RNA NM_000567 NP_000558 P02741 CRP_HUMAN C-reactive protein, pentraxin-related precursor 214 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding ovary(1) 1 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) AACACTTCGCCTTGCACTTCA 0.557 46 134 --- --- --- --- PASS DCAF8 50717 broad.mit.edu 37 1 160209783 160209783 + Nonsense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:160209783C>A uc001fvo.2 - 4 739 c.427G>T c.(427-429)GAA>TAA p.E143* DCAF8_uc001fvn.2_Nonsense_Mutation_p.E143*|DCAF8_uc009wth.2_Nonsense_Mutation_p.E143*|DCAF8_uc010pjb.1_Nonsense_Mutation_p.E143*|DCAF8_uc010pjc.1_Nonsense_Mutation_p.E297*|DCAF8_uc001fvq.3_Nonsense_Mutation_p.E143*|DCAF8_uc001fvp.3_Nonsense_Mutation_p.E143*|uc010pjd.1_3'UTR NM_015726 NP_056541 Q5TAQ9 DCAF8_HUMAN DDB1 and CUL4 associated factor 8 143 CUL4 RING ubiquitin ligase complex protein binding skin(2) 2 GCTGATGTTTCTGAGGACACC 0.607 47 151 --- --- --- --- PASS ADAMTS4 9507 broad.mit.edu 37 1 161162001 161162001 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:161162001G>C uc001fyt.3 - 8 2369 c.1941C>G c.(1939-1941)GAC>GAG p.D647E NM_005099 NP_005090 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 647 Cys-rich. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding ovary(4)|central_nervous_system(1) 5 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCGAGGAGCTGTCCGGGGAAC 0.532 OREG0013940 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 35 176 --- --- --- --- PASS C1orf110 339512 broad.mit.edu 37 1 162824578 162824578 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:162824578G>T uc001gck.2 - 4 1061 c.886C>A c.(886-888)CCT>ACT p.P296T C1orf110_uc009wuw.1_Intron|C1orf110_uc009wux.1_Missense_Mutation_p.P295T NM_178550 NP_848645 Q86UF4 CA110_HUMAN hypothetical protein LOC339512 296 0 AACTTAGAAGGCACCCTGTTT 0.438 61 118 --- --- --- --- PASS DPT 1805 broad.mit.edu 37 1 168698286 168698286 + Silent SNP G T T rs147889127 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:168698286G>T uc001gfp.2 - 1 143 c.127C>A c.(127-129)CGG>AGG p.R43R NM_001937 NP_001928 Q07507 DERM_HUMAN dermatopontin precursor 43 2 X 53-55 AA tandem repeats.|1-1. cell adhesion extracellular space|proteinaceous extracellular matrix ovary(1) 1 all_hematologic(923;0.208) AAGCCTTGCCGGTTCAAATTC 0.542 29 120 --- --- --- --- PASS KIFAP3 22920 broad.mit.edu 37 1 169952476 169952476 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:169952476G>A uc001ggv.2 - 13 1712 c.1441C>T c.(1441-1443)CCA>TCA p.P481S KIFAP3_uc010plx.1_Missense_Mutation_p.P183S NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 481 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ATCAGCAATGGATCCTTAAAC 0.333 44 46 --- --- --- --- PASS C1orf125 126859 broad.mit.edu 37 1 179380308 179380308 + Nonsense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:179380308T>A uc001gmo.2 + 12 1264 c.1137T>A c.(1135-1137)TAT>TAA p.Y379* C1orf125_uc009wxg.2_RNA|C1orf125_uc001gmn.1_Nonsense_Mutation_p.Y167*|C1orf125_uc010pnl.1_RNA|C1orf125_uc001gmp.2_Nonsense_Mutation_p.Y379* NM_144696 NP_653297 Q5T1B0 AXDN1_HUMAN hypothetical protein LOC126859 isoform 1 379 Potential. 0 ATGACTTATATACATTACAAA 0.284 48 135 --- --- --- --- PASS NPHS2 7827 broad.mit.edu 37 1 179520317 179520317 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:179520317G>T uc001gmq.3 - 8 1228 c.1143C>A c.(1141-1143)CCC>CCA p.P381P C1orf125_uc009wxg.2_Intron|C1orf125_uc001gmo.2_Intron|C1orf125_uc001gmp.2_Intron|C1orf125_uc009wxh.2_Intron|NPHS2_uc009wxi.2_Silent_p.P313P|C1orf125_uc001gmr.2_RNA NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 381 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 CCTATAACATGGGAGAGTCTT 0.498 19 75 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 185878584 185878584 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:185878584A>T uc001grq.1 + 5 966 c.737A>T c.(736-738)GAG>GTG p.E246V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 246 response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 AGCCTGAAAGAGGTCACTGTG 0.388 27 106 --- --- --- --- PASS PRG4 10216 broad.mit.edu 37 1 186276615 186276615 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:186276615T>C uc001gru.3 + 7 1815 c.1764T>C c.(1762-1764)ACT>ACC p.T588T PRG4_uc001grt.3_Silent_p.T547T|PRG4_uc009wyl.2_Silent_p.T495T|PRG4_uc009wym.2_Silent_p.T454T|PRG4_uc010poo.1_Intron NM_005807 NP_005798 Q92954 PRG4_HUMAN proteoglycan 4 isoform A 588 59 X 8 AA repeats of K-X-P-X-P-T-T-X.|31. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CACCCACCACTCCCAAGGAAC 0.652 7 95 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197021954 197021954 + Silent SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:197021954A>G uc001gtt.1 - 9 1409 c.1365T>C c.(1363-1365)ACT>ACC p.T455T NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 455 Sushi 8. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CCACATTAACAGTACATGGTT 0.264 13 45 --- --- --- --- PASS VASH2 79805 broad.mit.edu 37 1 213147329 213147329 + Silent SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:213147329C>A uc001hjy.2 + 6 1116 c.912C>A c.(910-912)ACC>ACA p.T304T VASH2_uc001hjv.2_RNA|VASH2_uc001hjx.2_Silent_p.T239T|VASH2_uc010ptn.1_Silent_p.T200T|VASH2_uc001hjw.2_Silent_p.T260T NM_001136475 NP_001129947 Q86V25 VASH2_HUMAN vasohibin 2 isoform 3 304 positive regulation of angiogenesis|positive regulation of endothelial cell proliferation cytoplasm 0 OV - Ovarian serous cystadenocarcinoma(81;0.00479)|all cancers(67;0.00844)|GBM - Glioblastoma multiforme(131;0.0496)|Epithelial(68;0.0986) ACTCTCCGACCCAAGTGAGAA 0.567 15 45 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216011388 216011388 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:216011388C>A uc001hku.1 - 47 9703 c.9316G>T c.(9316-9318)GTG>TTG p.V3106L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3106 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GTGTCTTCCACAGTGGTAATT 0.373 HNSCC(13;0.011) 65 185 --- --- --- --- PASS C1orf65 164127 broad.mit.edu 37 1 223567978 223567978 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:223567978G>C uc001hoa.2 + 1 1264 c.1161G>C c.(1159-1161)CGG>CGC p.R387R NM_152610 NP_689823 Q8N715 CA065_HUMAN hypothetical protein LOC164127 387 Potential. central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(131;0.0704) AGATGCTACGGAACCTCCGGG 0.662 13 29 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237919660 237919660 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:237919660G>A uc001hyl.1 + 81 11338 c.11218G>A c.(11218-11220)GTG>ATG p.V3740M RYR2_uc010pya.1_Missense_Mutation_p.V155M NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3740 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GGCTGAGATGGTGCTACAGAC 0.483 16 39 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240371821 240371821 + Silent SNP C T T rs111521184 byFrequency TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:240371821C>T uc010pyd.1 + 5 3934 c.3709C>T c.(3709-3711)CTG>TTG p.L1237L FMN2_uc010pye.1_Silent_p.L1241L NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1237 Pro-rich.|FH1. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACCGCCCCCTCTGCTTCCTGT 0.602 19 53 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241146382 241146382 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr1:241146382G>C uc001hyv.2 - 4 553 c.223C>G c.(223-225)CCA>GCA p.P75A RGS7_uc010pyh.1_Missense_Mutation_p.P49A|RGS7_uc010pyj.1_Translation_Start_Site|RGS7_uc001hyu.2_Missense_Mutation_p.P75A|RGS7_uc009xgn.1_Missense_Mutation_p.P75A|RGS7_uc001hyw.2_Missense_Mutation_p.P75A NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 75 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) TATTTACCTGGATCTTCTATA 0.299 8 15 --- --- --- --- PASS DDX1 1653 broad.mit.edu 37 2 15770167 15770167 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:15770167G>T uc002rce.2 + 25 2313 c.2025G>T c.(2023-2025)CCG>CCT p.P675P NM_004939 NP_004930 Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 1 675 Helicase C-terminal.|Necessary for interaction with HNRNPK. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) AGGTTGAGCCGGATATAAAGG 0.343 74 187 --- --- --- --- PASS FAM49A 81553 broad.mit.edu 37 2 16740833 16740833 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:16740833C>T uc010exm.1 - 9 880 c.732G>A c.(730-732)ACG>ACA p.T244T FAM49A_uc002rck.1_Silent_p.T244T NM_030797 NP_110424 Q9H0Q0 FA49A_HUMAN family with sequence similarity 49, member A 244 intracellular 0 Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088) GBM - Glioblastoma multiforme(3;0.00969) TCTCTTCACTCGTAAACCTAC 0.493 49 226 --- --- --- --- PASS C2orf44 80304 broad.mit.edu 37 2 24261359 24261359 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:24261359T>C uc002rep.2 - 2 1137 c.1006A>G c.(1006-1008)ATT>GTT p.I336V C2orf44_uc010eya.2_Missense_Mutation_p.I336V NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 336 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATGCCTGGAATAGTGACTTTT 0.403 82 155 --- --- --- --- PASS ASXL2 55252 broad.mit.edu 37 2 25965964 25965964 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:25965964G>A uc002rgs.2 - 12 3463 c.3242C>T c.(3241-3243)TCA>TTA p.S1081L ASXL2_uc002rgt.1_Intron NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 1081 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGCACAACTGAGAGAAGATT 0.502 90 330 --- --- --- --- PASS KCNK12 56660 broad.mit.edu 37 2 47748348 47748348 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:47748348G>T uc002rwb.2 - 2 991 c.991C>A c.(991-993)CGG>AGG p.R331R MSH2_uc002rvz.2_Intron NM_022055 NP_071338 Q9HB15 KCNKC_HUMAN potassium channel, subfamily K, member 12 331 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(1) 1 all_hematologic(82;0.0495)|Acute lymphoblastic leukemia(82;0.175) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GCATTGCGCCGGGCCAGGGGC 0.756 6 12 --- --- --- --- PASS NRXN1 9378 broad.mit.edu 37 2 50847250 50847250 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:50847250A>T uc010fbq.2 - 8 2827 c.1350T>A c.(1348-1350)TCT>TCA p.S450S NRXN1_uc002rxb.3_Silent_p.S82S|NRXN1_uc002rxe.3_Silent_p.S410S|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAAAGTCATCAGACCCCAGCA 0.473 17 80 --- --- --- --- PASS TMEM17 200728 broad.mit.edu 37 2 62733230 62733230 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:62733230C>G uc002sbt.2 - 1 375 c.35G>C c.(34-36)GGA>GCA p.G12A TMEM17_uc002sbu.2_Missense_Mutation_p.G12A|TMEM17_uc002sbv.1_Intron NM_198276 NP_938017 Q86X19 TMM17_HUMAN transmembrane protein 17 12 integral to membrane 0 Lung NSC(7;0.0274)|all_lung(7;0.0568) LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169) GCTGAAGTTTCCCAGCCGCTG 0.677 4 10 --- --- --- --- PASS C2orf3 6936 broad.mit.edu 37 2 75899136 75899136 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:75899136T>C uc002sno.2 - 14 2026 c.1896A>G c.(1894-1896)GTA>GTG p.V632V C2orf3_uc010ffs.2_Silent_p.V194V|C2orf3_uc002snn.2_Silent_p.V463V|C2orf3_uc010fft.2_Silent_p.V307V NM_003203 NP_003194 P16383 GCF_HUMAN hypothetical protein LOC6936 632 negative regulation of transcription, DNA-dependent nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(1)|central_nervous_system(1) 2 TTTTGTTTTCTACAGCACTAA 0.343 32 89 --- --- --- --- PASS LRRTM1 347730 broad.mit.edu 37 2 80530588 80530588 + Silent SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:80530588C>A uc002sok.1 - 2 627 c.357G>T c.(355-357)ACG>ACT p.T119T CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 119 LRR 2.|Lumenal (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 TGGAACTCAGCGTGAGTTCCT 0.587 HNSCC(69;0.2) 64 233 --- --- --- --- PASS KCMF1 56888 broad.mit.edu 37 2 85273227 85273227 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:85273227G>C uc002sox.3 + 5 771 c.427G>C c.(427-429)GAT>CAT p.D143H NM_020122 NP_064507 Q9P0J7 KCMF1_HUMAN potassium channel modulatory factor 1 143 intracellular ligase activity|zinc ion binding ovary(2) 2 TTTGGGTTATGATGAATCGAG 0.403 9 43 --- --- --- --- PASS SFTPB 6439 broad.mit.edu 37 2 85890958 85890958 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:85890958C>G uc002sqh.2 - 7 691 c.685G>C c.(685-687)GTG>CTG p.V229L SFTPB_uc002sqi.2_Missense_Mutation_p.V241L|SFTPB_uc002sqj.2_Missense_Mutation_p.V229L|SFTPB_uc010ysw.1_5'Flank NM_198843 NP_942140 P07988 PSPB_HUMAN surfactant, pulmonary-associated protein B 229 Saposin B-type 2. organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process extracellular space|lysosome ovary(1)|central_nervous_system(1) 2 GCCACTGCCACAGCTAGCGCA 0.517 2 6 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89265834 89265834 + RNA SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:89265834G>T uc010ytr.1 - 95 c.7732C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. TCAGGCTGCAGGCTGCTGATG 0.483 71 272 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89265835 89265835 + RNA SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:89265835G>T uc010ytr.1 - 95 c.7731C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. CAGGCTGCAGGCTGCTGATGG 0.488 69 275 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89326822 89326822 + RNA SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:89326822G>T uc010ytr.1 - 68 c.6356C>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. GAGGAGCCTGGGAGCCTGGCC 0.577 34 86 --- --- --- --- PASS SNRNP200 23020 broad.mit.edu 37 2 96949346 96949346 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:96949346G>A uc002svu.2 - 33 4776 c.4690C>T c.(4690-4692)CCG>TCG p.P1564S SNRNP200_uc002svt.2_Missense_Mutation_p.P174S|SNRNP200_uc010yuj.1_RNA|SNRNP200_uc002svv.1_Missense_Mutation_p.P91S NM_014014 NP_054733 O75643 U520_HUMAN activating signal cointegrator 1 complex subunit 1564 Helicase C-terminal 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(5)|skin(4)|large_intestine(1) 10 TTGCGAGACGGCACAAAGACA 0.582 5 275 --- --- --- --- PASS LONRF2 164832 broad.mit.edu 37 2 100906846 100906846 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:100906846G>A uc002tal.3 - 10 2434 c.1794C>T c.(1792-1794)GAC>GAT p.D598D LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 598 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 ACGTTCTCACGTCCTTAATCT 0.478 55 566 --- --- --- --- PASS CCDC93 54520 broad.mit.edu 37 2 118693071 118693071 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:118693071C>A uc002tlj.2 - 22 1854 c.1728G>T c.(1726-1728)AAG>AAT p.K576N NM_019044 NP_061917 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 576 Potential. large_intestine(1)|ovary(1) 2 GCCATCTGACCTTCATTCTAC 0.498 38 83 --- --- --- --- PASS INSIG2 51141 broad.mit.edu 37 2 118860889 118860889 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:118860889G>T uc002tlk.2 + 3 567 c.361G>T c.(361-363)GCC>TCC p.A121S INSIG2_uc010yye.1_Missense_Mutation_p.A13S|INSIG2_uc002tll.2_Missense_Mutation_p.A13S NM_016133 NP_057217 Q9Y5U4 INSI2_HUMAN insulin induced protein 2 121 ER-nuclear sterol response pathway SREBP-SCAP-Insig complex ovary(1)|central_nervous_system(1) 2 TATAAATCATGCCAGTGCTGT 0.398 51 262 --- --- --- --- PASS C2orf76 130355 broad.mit.edu 37 2 120069255 120069255 + Nonsense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:120069255C>A uc002tls.2 - 6 788 c.247G>T c.(247-249)GAA>TAA p.E83* C2orf76_uc010flf.1_Nonsense_Mutation_p.E83*|C2orf76_uc010yyg.1_RNA|C2orf76_uc002tlt.2_Nonsense_Mutation_p.E83*|C2orf76_uc002tlu.2_Nonsense_Mutation_p.E83* NM_001017927 NP_001017927 Q3KRA6 CB076_HUMAN hypothetical protein LOC130355 83 0 TCGTCATCTTCCAAACTCAAC 0.443 28 86 --- --- --- --- PASS POTEF 728378 broad.mit.edu 37 2 130877689 130877689 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:130877689G>C uc010fmh.2 - 3 800 c.400C>G c.(400-402)CAC>GAC p.H134D NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN prostate, ovary, testis expressed protein on 134 cell cortex ATP binding skin(3)|ovary(2) 5 CCACGGACGTGGTACCTGGGC 0.592 64 131 --- --- --- --- PASS POTEE 445582 broad.mit.edu 37 2 131976375 131976375 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:131976375C>G uc002tsn.2 + 1 452 c.400C>G c.(400-402)CAC>GAC p.H134D PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 134 ATP binding 0 GCCCAGGTACCACGTCCGTGG 0.602 14 277 --- --- --- --- PASS RIF1 55183 broad.mit.edu 37 2 152300042 152300042 + Splice_Site SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:152300042G>T uc002txm.2 + 18 1936 c.1806_splice c.e18-1 p.R602_splice RIF1_uc002txl.2_Splice_Site_p.R602_splice|RIF1_uc010fnv.1_Splice_Site_p.R566_splice|RIF1_uc002txn.2_Splice_Site_p.R602_splice|RIF1_uc002txo.2_Splice_Site_p.R602_splice NM_018151 NP_060621 Q5UIP0 RIF1_HUMAN RAP1 interacting factor 1 cell cycle|response to DNA damage stimulus chromosome, telomeric region|cytoplasm|nucleus|spindle binding ovary(5)|breast(4)|skin(3)|lung(2)|kidney(1) 15 BRCA - Breast invasive adenocarcinoma(221;0.0429) TTTTTGTTCAGGTTCTTTCTC 0.284 76 184 --- --- --- --- PASS LY75 4065 broad.mit.edu 37 2 160698800 160698800 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:160698800G>A uc002ubc.3 - 24 3305 c.3236C>T c.(3235-3237)TCC>TTC p.S1079F LY75_uc002ubb.3_Missense_Mutation_p.S1079F|LY75_uc010fos.2_Missense_Mutation_p.S1079F NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1079 Extracellular (Potential).|C-type lectin 6. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TTCACTGCAGGATGTAAAATT 0.363 24 63 --- --- --- --- PASS PSMD14 10213 broad.mit.edu 37 2 162224035 162224035 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:162224035A>G uc002ubu.2 + 4 562 c.95A>G c.(94-96)TAT>TGT p.Y32C NM_005805 NP_005796 O00487 PSDE_HUMAN proteasome 26S subunit, non-ATPase 14 32 MPN. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K63-linked deubiquitination|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome complex endopeptidase activator activity|metal ion binding|metallopeptidase activity|proteasome binding|ubiquitin thiolesterase activity breast(1) 1 GAACAAGTCTATATCTCTTCC 0.358 6 11 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166915199 166915199 + Splice_Site SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:166915199C>A uc010zcz.1 - 2 283 c.265_splice c.e2-1 p.T89_splice SCN1A_uc002udo.3_5'Flank|SCN1A_uc010fpk.2_5'Flank NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) CTATAAAAGTCTGTAAGACAG 0.343 11 33 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179633453 179633453 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:179633453T>C uc010zfg.1 - 38 9334 c.9110A>G c.(9109-9111)GAC>GGC p.D3037G TTN_uc010zfh.1_Missense_Mutation_p.D2991G|TTN_uc010zfi.1_Missense_Mutation_p.D2991G|TTN_uc010zfj.1_Missense_Mutation_p.D2991G|TTN_uc002unb.2_Missense_Mutation_p.D3037G NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 3037 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) AAAGGTGTAGTCAGCAGCATC 0.408 11 40 --- --- --- --- PASS PLCL1 5334 broad.mit.edu 37 2 198950210 198950210 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:198950210C>A uc010fsp.2 + 2 2260 c.1969C>A c.(1969-1971)CAG>AAG p.Q657K PLCL1_uc002uuv.3_Missense_Mutation_p.Q578K NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 657 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) CTTGAATCCACAGGACTTTTG 0.418 29 72 --- --- --- --- PASS STRADB 55437 broad.mit.edu 37 2 202337718 202337718 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:202337718G>A uc002uyd.3 + 5 599 c.234G>A c.(232-234)CGG>CGA p.R78R NM_018571 NP_061041 Q9C0K7 STRAB_HUMAN STE20-related kinase adaptor beta 78 Protein kinase. activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation cytosol|nucleus ATP binding|protein binding|protein kinase activity skin(2)|stomach(1)|lung(1) 4 ATCTTGCACGGCATACTCCCA 0.323 5 449 --- --- --- --- PASS SPAG16 79582 broad.mit.edu 37 2 214727276 214727276 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:214727276G>T uc002veq.2 + 11 1230 c.1138G>T c.(1138-1140)GGC>TGC p.G380C SPAG16_uc010fuz.1_Missense_Mutation_p.G231C|SPAG16_uc002ver.2_Missense_Mutation_p.G326C|SPAG16_uc010zjk.1_Missense_Mutation_p.G286C NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 380 WD 1. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GAAGGTGTTGGGCCTTCCAAA 0.532 26 105 --- --- --- --- PASS VWC2L 402117 broad.mit.edu 37 2 215279254 215279254 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:215279254A>G uc002vet.2 + 2 467 c.337A>G c.(337-339)AAA>GAA p.K113E VWC2L_uc010zjl.1_Missense_Mutation_p.K113E NM_001080500 NP_001073969 B2RUY7 VWC2L_HUMAN von Willebrand factor C domain-containing 113 extracellular region 0 CAAAGAAGTAAAAAACTTCTG 0.373 9 36 --- --- --- --- PASS CYP27A1 1593 broad.mit.edu 37 2 219679732 219679732 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:219679732G>A uc002viz.3 + 9 2009 c.1575G>A c.(1573-1575)CAG>CAA p.Q525Q NM_000784 NP_000775 Q02318 CP27A_HUMAN cytochrome P450, family 27, subfamily A, 525 bile acid biosynthetic process|xenobiotic metabolic process mitochondrial matrix cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding ovary(1) 1 Renal(207;0.0474) Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981) Cholecalciferol(DB00169) TGGGCCTGCAGTTCCTGCAGA 0.592 42 65 --- --- --- --- PASS HDLBP 3069 broad.mit.edu 37 2 242192429 242192429 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr2:242192429C>T uc002waz.2 - 11 1543 c.1315G>A c.(1315-1317)GAG>AAG p.E439K HDLBP_uc002wba.2_Missense_Mutation_p.E439K|HDLBP_uc002wbb.2_Missense_Mutation_p.E391K NM_203346 NP_976221 Q00341 VIGLN_HUMAN high density lipoprotein binding protein 439 KH 4. cholesterol metabolic process|lipid transport cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane lipid binding|protein binding|RNA binding breast(3)|skin(1) 4 all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928) ATGTTGATCTCCACATAGTCC 0.562 55 186 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 361468 361468 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:361468G>T uc003bou.2 + 3 280 c.9G>T c.(7-9)CCG>CCT p.P3P CHL1_uc003bot.2_Silent_p.P3P|CHL1_uc003bow.1_Silent_p.P3P|CHL1_uc011asi.1_Silent_p.P3P NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 3 axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix p.P3S(1) skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAATGGAGCCGCTTTTACTTG 0.373 12 17 --- --- --- --- PASS CHL1 10752 broad.mit.edu 37 3 431056 431056 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:431056C>G uc003bou.2 + 19 2592 c.2321C>G c.(2320-2322)ACG>AGG p.T774R CHL1_uc003bot.2_Missense_Mutation_p.T790R|CHL1_uc003bow.1_Missense_Mutation_p.T774R|CHL1_uc011asi.1_Missense_Mutation_p.T790R NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 774 Fibronectin type-III 2.|Extracellular (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CGGGTGATGACGCCTGCTGTC 0.438 34 38 --- --- --- --- PASS GRM7 2917 broad.mit.edu 37 3 7620396 7620396 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:7620396G>A uc003bqm.2 + 8 2077 c.1803G>A c.(1801-1803)GGG>GGA p.G601G GRM7_uc011ata.1_RNA|GRM7_uc011atb.1_RNA|GRM7_uc010hcf.2_RNA|GRM7_uc011atc.1_RNA|GRM7_uc010hcg.2_Silent_p.G601G|GRM7_uc003bql.2_Silent_p.G601G|GRM7_uc003bqn.1_Silent_p.G184G|GRM7_uc010hch.1_Silent_p.G112G NM_000844 NP_000835 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 isoform a 601 Helical; Name=1; (Potential). negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding ovary(4)|lung(3) 7 L-Glutamic Acid(DB00142) CAATGTTGGGGATCATTGCCA 0.532 86 123 --- --- --- --- PASS KIF9 64147 broad.mit.edu 37 3 47286396 47286396 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:47286396C>T uc010hjp.2 - 16 2003 c.1399G>A c.(1399-1401)GAT>AAT p.D467N KIF9_uc003cqx.2_Missense_Mutation_p.D467N|KIF9_uc003cqy.2_Missense_Mutation_p.D467N|KIF9_uc011bat.1_RNA NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 467 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) AGGTGGCCATCAACATCCACA 0.527 18 35 --- --- --- --- PASS ITIH3 3699 broad.mit.edu 37 3 52829632 52829632 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:52829632C>G uc003dfv.2 + 2 143 c.107C>G c.(106-108)CCG>CGG p.P36R ITIH3_uc011bek.1_Missense_Mutation_p.P36R NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 36 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CGGAGCCTCCCGGAAGGGGTA 0.567 6 40 --- --- --- --- PASS EPHA3 2042 broad.mit.edu 37 3 89498436 89498436 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:89498436C>T uc003dqy.2 + 14 2633 c.2408C>T c.(2407-2409)TCA>TTA p.S803L EPHA3_uc010hon.1_RNA NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor 803 Cytoplasmic (Potential).|Protein kinase. extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) AAGTTCACGTCAGCCAGCGAT 0.443 TSP Lung(6;0.00050) 82 266 --- --- --- --- PASS KIAA1524 57650 broad.mit.edu 37 3 108270104 108270104 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:108270104C>A uc003dxb.3 - 21 2879 c.2610G>T c.(2608-2610)TTG>TTT p.L870F NM_020890 NP_065941 Q8TCG1 CIP2A_HUMAN p90 autoantigen 870 Potential. cytoplasm|integral to membrane protein binding ovary(2)|central_nervous_system(1) 3 GAAGTTTCACCAAGGACTCTT 0.428 14 62 --- --- --- --- PASS ZNF80 7634 broad.mit.edu 37 3 113955261 113955261 + Nonsense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:113955261C>A uc010hqo.2 - 1 1165 c.661G>T c.(661-663)GAA>TAA p.E221* ZNF80_uc003ebf.2_RNA NM_007136 NP_009067 P51504 ZNF80_HUMAN zinc finger protein 80 221 C2H2-type 7. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Lung NSC(201;0.0233)|all_neural(597;0.0837) TTCCCACATTCTTTGCACTCG 0.483 70 292 --- --- --- --- PASS IQCB1 9657 broad.mit.edu 37 3 121518141 121518141 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:121518141C>T uc010hre.1 - 8 883 c.668G>A c.(667-669)AGT>AAT p.S223N IQCB1_uc003eek.2_Intron|IQCB1_uc010hrf.1_RNA NM_001023570 NP_001018864 Q15051 IQCB1_HUMAN IQ motif containing B1 isoform a 223 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding 0 GBM - Glioblastoma multiforme(114;0.0983) TATAACTGGACTAGGAGTTGA 0.333 10 55 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 122003471 122003471 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:122003471C>T uc003eev.3 + 7 3042 c.2670C>T c.(2668-2670)CGC>CGT p.R890R CASR_uc003eew.3_Silent_p.R900R NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 890 Cytoplasmic (Potential).|Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CCACGCTGCGCCGCAGCAACG 0.627 24 52 --- --- --- --- PASS CASR 846 broad.mit.edu 37 3 122003473 122003473 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:122003473G>C uc003eev.3 + 7 3044 c.2672G>C c.(2671-2673)CGC>CCC p.R891P CASR_uc003eew.3_Missense_Mutation_p.R901P NM_000388 NP_000379 P41180 CASR_HUMAN calcium-sensing receptor precursor 891 Cytoplasmic (Potential).|Interaction with RNF19A. anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(2)|upper_aerodigestive_tract(1) 7 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) ACGCTGCGCCGCAGCAACGTC 0.627 26 50 --- --- --- --- PASS HEG1 57493 broad.mit.edu 37 3 124732636 124732636 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:124732636G>A uc003ehs.3 - 6 1855 c.1787C>T c.(1786-1788)TCA>TTA p.S596L HEG1_uc011bke.1_Missense_Mutation_p.S696L NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN HEG homolog 1 precursor 596 Extracellular (Potential).|Ser-rich. extracellular region|integral to membrane calcium ion binding ovary(2) 2 GGAATACTCTGAATGTGAAGA 0.418 26 104 --- --- --- --- PASS COPG 22820 broad.mit.edu 37 3 128971157 128971157 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:128971157C>T uc003els.2 + 3 224 c.124C>T c.(124-126)CGG>TGG p.R42W COPG_uc010htb.2_5'UTR NM_016128 NP_057212 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 42 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ovary(3)|breast(1) 4 CATCAACCCTCGGAAATGTGC 0.453 69 193 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134920518 134920518 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:134920518A>T uc003eqt.2 + 12 2553 c.2333A>T c.(2332-2334)TAC>TTC p.Y778F EPHB1_uc003equ.2_Missense_Mutation_p.Y339F NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 778 Cytoplasmic (Potential).|Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 GATCCCACCTACACCAGCTCC 0.537 26 99 --- --- --- --- PASS LRRIQ4 344657 broad.mit.edu 37 3 169546579 169546579 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:169546579G>T uc003fgb.2 + 2 1053 c.1053G>T c.(1051-1053)CTG>CTT p.L351L NM_001080460 NP_001073929 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 351 LRR 15. 0 TTTCAAAACTGAAGATACTTG 0.373 118 143 --- --- --- --- PASS NAALADL2 254827 broad.mit.edu 37 3 175042061 175042061 + Missense_Mutation SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:175042061T>G uc003fit.2 + 5 1124 c.1037T>G c.(1036-1038)ATG>AGG p.M346R NAALADL2_uc003fiu.1_Missense_Mutation_p.M339R|NAALADL2_uc010hwy.1_Missense_Mutation_p.M168R|NAALADL2_uc010hwz.1_Intron NM_207015 NP_996898 Q58DX5 NADL2_HUMAN N-acetylated alpha-linked acidic dipeptidase 2 346 Extracellular (Potential). proteolysis integral to membrane peptidase activity pancreas(1) 1 Ovarian(172;0.0102) all_cancers(1;0.0272)|all_epithelial(1;0.0553) OV - Ovarian serous cystadenocarcinoma(80;9.26e-28) Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284) GATACCTTCATGGTGTCACTG 0.423 104 565 --- --- --- --- PASS CCDC39 339829 broad.mit.edu 37 3 180366086 180366086 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:180366086T>C uc010hxe.2 - 10 1344 c.1229A>G c.(1228-1230)CAG>CGG p.Q410R CCDC39_uc003fkn.2_RNA NM_181426 NP_852091 Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 410 Potential. axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton ovary(4) 4 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) TGTCTCAGTCTGTAACTCCTG 0.333 45 250 --- --- --- --- PASS KLHL24 54800 broad.mit.edu 37 3 183368731 183368731 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:183368731A>T uc003flv.2 + 3 882 c.587A>T c.(586-588)GAG>GTG p.E196V KLHL24_uc003flw.2_Missense_Mutation_p.E196V|KLHL24_uc003flx.2_Missense_Mutation_p.E196V NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 196 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) CAGACTTTTGAGGATGTATCC 0.363 203 233 --- --- --- --- PASS PARL 55486 broad.mit.edu 37 3 183551362 183551362 + Missense_Mutation SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:183551362T>G uc003fmd.2 - 9 1005 c.946A>C c.(946-948)ATC>CTC p.I316L PARL_uc003fme.2_Missense_Mutation_p.I266L NM_018622 NP_061092 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like isoform 1 316 Helical; (Potential). proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity 0 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCCATGGCGATAATGGCTTTC 0.453 26 112 --- --- --- --- PASS ABCC5 10057 broad.mit.edu 37 3 183645225 183645225 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:183645225G>T uc003fmg.2 - 28 4105 c.3940C>A c.(3940-3942)CAG>AAG p.Q1314K ABCC5_uc011bqt.1_Missense_Mutation_p.Q842K|ABCC5_uc010hxl.2_Missense_Mutation_p.Q1271K NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 1314 ABC transporter 2. 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) AGAGGTAGCTGAGCAATCTAG 0.458 8 82 --- --- --- --- PASS HTR3D 200909 broad.mit.edu 37 3 183756643 183756643 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:183756643G>T uc011bqv.1 + 8 1245 c.1245G>T c.(1243-1245)AAG>AAT p.K415N HTR3D_uc003fmj.2_Missense_Mutation_p.K240N|HTR3D_uc011bqu.1_Missense_Mutation_p.K365N|HTR3D_uc010hxp.2_Missense_Mutation_p.K194N NM_001163646 NP_001157118 Q70Z44 5HT3D_HUMAN 5-hydroxytryptamine receptor 3 subunit D isoform 415 Cytoplasmic (Potential). integral to membrane|plasma membrane extracellular ligand-gated ion channel activity|receptor activity 0 all_cancers(143;2.33e-10)|Ovarian(172;0.0303) Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AGGCCCAGAAGCAGCACTCGG 0.637 50 154 --- --- --- --- PASS VPS8 23355 broad.mit.edu 37 3 184580696 184580696 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:184580696A>T uc003fpb.1 + 15 1401 c.1230A>T c.(1228-1230)TCA>TCT p.S410S VPS8_uc010hyd.1_Silent_p.S410S NM_015303 NP_056118 Q8N3P4 VPS8_HUMAN vacuolar protein sorting 8 homolog isoform b 412 zinc ion binding ovary(1) 1 all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22) GGATAAATTCACGCACAGTTG 0.438 41 248 --- --- --- --- PASS RFC4 5984 broad.mit.edu 37 3 186508180 186508180 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:186508180T>C uc003fqz.2 - 9 1040 c.817A>G c.(817-819)AAA>GAA p.K273E RFC4_uc011bsc.1_Missense_Mutation_p.K273E NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 273 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CCATCAATTTTCTCAGCTGGT 0.443 35 174 --- --- --- --- PASS MUC4 4585 broad.mit.edu 37 3 195475876 195475876 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr3:195475876C>G uc011bto.1 - 25 16007 c.15547G>C c.(15547-15549)GTC>CTC p.V5183L MUC4_uc010hzq.2_Missense_Mutation_p.V168L|MUC4_uc003fuz.2_Missense_Mutation_p.V909L|MUC4_uc003fva.2_Missense_Mutation_p.V791L|MUC4_uc003fvb.2_Missense_Mutation_p.V827L|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.V827L|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Missense_Mutation_p.V791L|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Missense_Mutation_p.V875L|MUC4_uc011bti.1_Missense_Mutation_p.V875L|MUC4_uc011btj.1_Missense_Mutation_p.V1052L|MUC4_uc011btk.1_Missense_Mutation_p.V791L|MUC4_uc011btl.1_Missense_Mutation_p.V820L|MUC4_uc011btm.1_Missense_Mutation_p.V1000L|MUC4_uc011btn.1_Missense_Mutation_p.V791L|MUC4_uc003fvo.2_Missense_Mutation_p.V1075L|MUC4_uc003fvp.2_Missense_Mutation_p.V1024L NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 2068 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) GGGCTGTAGACCAGGTCGTAG 0.602 19 103 --- --- --- --- PASS GABRB1 2560 broad.mit.edu 37 4 47033717 47033717 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:47033717G>T uc003gxh.2 + 1 423 c.49G>T c.(49-51)GTG>TTG p.V17L GABRB1_uc011bze.1_5'UTR|GABRB1_uc011bzd.1_Missense_Mutation_p.V17L|GABRB1_uc010igg.2_RNA NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 17 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CTCTTTCCCTGTGATGATTAC 0.338 77 265 --- --- --- --- PASS CWH43 80157 broad.mit.edu 37 4 49052819 49052819 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:49052819G>C uc003gyv.2 + 15 2156 c.1974G>C c.(1972-1974)GTG>GTC p.V658V CWH43_uc011bzl.1_Silent_p.V631V NM_025087 NP_079363 Q9H720 PG2IP_HUMAN cell wall biogenesis 43 C-terminal homolog 658 GPI anchor biosynthetic process integral to membrane skin(2)|ovary(1) 3 ACCAGAAAGTGGTCATAGACC 0.408 21 85 --- --- --- --- PASS PDGFRA 5156 broad.mit.edu 37 4 55127335 55127335 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:55127335G>C uc003han.3 + 3 454 c.123G>C c.(121-123)CTG>CTC p.L41L PDGFRA_uc003haa.2_Intron|PDGFRA_uc003hal.2_Silent_p.L41L|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_RNA NM_006206 NP_006197 P16234 PGFRA_HUMAN platelet-derived growth factor receptor alpha 41 Ig-like C2-type 1.|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 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) TTGTGCAGCTGAATTCATCCT 0.463 Mis|O|T FIP1L1 GIST|idiopathic hypereosinophilic syndrome Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Intestinal_Neurofibromatosis TSP Lung(21;0.16) 87 215 --- --- --- --- PASS UGT2B4 7363 broad.mit.edu 37 4 70352343 70352343 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:70352343G>T uc003hek.3 - 4 1121 c.1074C>A c.(1072-1074)CCC>CCA p.P358P UGT2B4_uc011cap.1_Silent_p.P222P|UGT2B4_uc003hel.3_Silent_p.P358P NM_021139 NP_066962 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2B4 precursor 358 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity skin(2) 2 GATCATTCTGGGGTATCCACT 0.338 33 209 --- --- --- --- PASS CCDC158 339965 broad.mit.edu 37 4 77290599 77290599 + Nonsense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:77290599G>A uc003hkb.3 - 10 1480 c.1327C>T c.(1327-1329)CAG>TAG p.Q443* NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 443 Potential. skin(3)|ovary(2)|pancreas(1) 6 ATCTGGCCCTGACACTCGCTC 0.542 25 90 --- --- --- --- PASS BMP3 651 broad.mit.edu 37 4 81967617 81967617 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:81967617A>T uc003hmg.3 + 2 1362 c.1042A>T c.(1042-1044)ACG>TCG p.T348S NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 348 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 GAAGAGCCAGACGCTCCAATT 0.493 16 59 --- --- --- --- PASS C4orf17 84103 broad.mit.edu 37 4 100460363 100460363 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:100460363G>A uc003huw.2 + 7 995 c.672G>A c.(670-672)GAG>GAA p.E224E C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 224 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AGCTTGCCGAGATAAACCTGT 0.438 97 205 --- --- --- --- PASS ANK2 287 broad.mit.edu 37 4 114267166 114267166 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:114267166G>C uc003ibe.3 + 35 4459 c.4359G>C c.(4357-4359)CCG>CCC p.P1453P ANK2_uc003ibd.3_Silent_p.P1444P|ANK2_uc003ibf.3_Silent_p.P1453P|ANK2_uc011cgc.1_Silent_p.P629P|ANK2_uc003ibg.3_Silent_p.P448P|ANK2_uc003ibh.3_Silent_p.P127P|ANK2_uc011cgb.1_Silent_p.P1468P NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 1420 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) TCACTTTGCCGATTTATACAA 0.373 34 72 --- --- --- --- PASS EXOSC9 5393 broad.mit.edu 37 4 122722986 122722986 + Missense_Mutation SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:122722986T>G uc003iea.2 + 2 179 c.71T>G c.(70-72)CTG>CGG p.L24R EXOSC9_uc003idz.2_Missense_Mutation_p.L24R|EXOSC9_uc003ieb.2_Missense_Mutation_p.L8R|EXOSC9_uc010inp.1_5'Flank NM_005033 NP_005024 Q06265 EXOS9_HUMAN exosome component 9 isoform 2 24 ARE binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing cytosol|nuclear exosome (RNase complex)|nucleolus|nucleolus|nucleus 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 TTACAGCGGCTGGATGGCAGA 0.259 31 81 --- --- --- --- PASS HHIP 64399 broad.mit.edu 37 4 145640048 145640048 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:145640048G>C uc003ijs.1 + 11 2355 c.1700G>C c.(1699-1701)AGC>ACC p.S567T NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 567 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) ATTTTATCAAGCAGTAAAAGT 0.328 26 71 --- --- --- --- PASS ACCN5 51802 broad.mit.edu 37 4 156757953 156757953 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:156757953C>A uc003ipe.1 - 8 1170 c.1123G>T c.(1123-1125)GTT>TTT p.V375F NM_017419 NP_059115 Q9NY37 ACCN5_HUMAN amiloride-sensitive cation channel 5, 375 Extracellular (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.0464)|Kidney(143;0.058)|COAD - Colon adenocarcinoma(41;0.141) TCACAAGAAACGGGGCAGCTA 0.363 27 101 --- --- --- --- PASS FNIP2 57600 broad.mit.edu 37 4 159782811 159782811 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:159782811C>G uc003iqe.3 + 12 1531 c.1348C>G c.(1348-1350)CCA>GCA p.P450A NM_020840 NP_065891 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 450 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding 0 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) GGCCTGGGTCCCAACTGTCAT 0.473 51 155 --- --- --- --- PASS CCDC110 256309 broad.mit.edu 37 4 186380094 186380094 + Missense_Mutation SNP C A A rs17853848 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:186380094C>A uc003ixu.3 - 6 1723 c.1647G>T c.(1645-1647)AAG>AAT p.K549N CCDC110_uc003ixv.3_Missense_Mutation_p.K512N|CCDC110_uc011ckt.1_Missense_Mutation_p.K549N NM_152775 NP_689988 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 isoform a 549 Potential. nucleus central_nervous_system(1) 1 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) TTTTGTGTTCCTTACTTTTTA 0.303 11 47 --- --- --- --- PASS FRG1 2483 broad.mit.edu 37 4 190878625 190878625 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:190878625A>G uc003izs.2 + 6 696 c.505A>G c.(505-507)AGT>GGT p.S169G NM_004477 NP_004468 Q14331 FRG1_HUMAN FSHD region gene 1 169 rRNA processing Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus 0 all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147) all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161) AGAAGCAAAAAGTAAAACAGC 0.363 4 131 --- --- --- --- PASS SEMA5A 9037 broad.mit.edu 37 5 9052140 9052140 + Missense_Mutation SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:9052140T>G uc003jek.2 - 20 3402 c.2690A>C c.(2689-2691)GAG>GCG p.E897A NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 897 Extracellular (Potential).|TSP type-1 7. cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 CGACCAGCTCTCTGCAGAGAC 0.572 9 33 --- --- --- --- PASS PRDM9 56979 broad.mit.edu 37 5 23524526 23524526 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:23524526G>T uc003jgo.2 + 10 1216 c.1034G>T c.(1033-1035)CGA>CTA p.R345L NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 345 SET. 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 AGAACCTGCCGAGTCATTAGG 0.552 HNSCC(3;0.000094) 32 57 --- --- --- --- PASS CDH9 1007 broad.mit.edu 37 5 26988403 26988403 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:26988403G>A uc003jgs.1 - 2 207 c.38C>T c.(37-39)ACC>ATC p.T13I CDH9_uc010iug.2_Missense_Mutation_p.T13I NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 13 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 GAACATATAGGTCCAGATGAA 0.343 34 155 --- --- --- --- PASS MTMR12 54545 broad.mit.edu 37 5 32233887 32233887 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:32233887G>A uc003jhq.2 - 15 1836 c.1666C>T c.(1666-1668)CGC>TGC p.R556C MTMR12_uc010iuk.2_Intron|MTMR12_uc010iul.2_Intron NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 556 Myotubularin phosphatase.|Interaction with MTM1. cytoplasm phosphatase activity ovary(1) 1 ACTTTGAAGCGCATTCCTTTC 0.473 6 579 --- --- --- --- PASS NIPBL 25836 broad.mit.edu 37 5 36958243 36958243 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:36958243G>T uc003jkl.3 + 4 767 c.268G>T c.(268-270)GGT>TGT p.G90C NIPBL_uc003jkk.3_Missense_Mutation_p.G90C NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 90 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TGACCCAGAAGGTGACATACC 0.403 44 157 --- --- --- --- PASS MRPS30 10884 broad.mit.edu 37 5 44809368 44809368 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:44809368G>C uc003joh.2 + 1 342 c.304G>C c.(304-306)GCC>CCC p.A102P MRPS30_uc003joi.1_5'Flank NM_016640 NP_057724 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 102 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome 0 Lung NSC(6;8.08e-07) CGCGCTGAATGCCGACCGCTG 0.493 21 35 --- --- --- --- PASS POC5 134359 broad.mit.edu 37 5 75008707 75008707 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:75008707C>T uc003keh.3 - 2 253 c.56G>A c.(55-57)CGA>CAA p.R19Q POC5_uc010izu.2_5'Flank|POC5_uc003keg.3_5'Flank NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 19 cell cycle centriole lung(1) 1 AGAACTGCCTCGACTGGAGTC 0.343 6 21 --- --- --- --- PASS CMYA5 202333 broad.mit.edu 37 5 79028281 79028281 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:79028281A>T uc003kgc.2 + 2 3765 c.3693A>T c.(3691-3693)CCA>CCT p.P1231P NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1231 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CTCAGCCTCCAAATGTTCCAG 0.413 13 16 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 89913642 89913642 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:89913642G>T uc003kju.2 + 3 325 c.229G>T c.(229-231)GAC>TAC p.D77Y GPR98_uc003kjt.2_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 77 Extracellular (Potential).|Calx-beta 1. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GGACGCTGGTGACTTTTTTGA 0.378 4 15 --- --- --- --- PASS RIOK2 55781 broad.mit.edu 37 5 96514781 96514781 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:96514781G>C uc003kmz.2 - 2 293 c.183C>G c.(181-183)CTC>CTG p.L61L RIOK2_uc003kna.3_Silent_p.L61L NM_018343 NP_060813 Q9BVS4 RIOK2_HUMAN RIO kinase 2 isoform 1 61 ATP binding|protein serine/threonine kinase activity kidney(1) 1 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) CCCAAGCTATGAGTTTATGTT 0.318 15 51 --- --- --- --- PASS FSTL4 23105 broad.mit.edu 37 5 132939579 132939579 + Silent SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:132939579C>A uc003kyn.1 - 2 314 c.96G>T c.(94-96)CCG>CCT p.P32P NM_015082 NP_055897 Q6MZW2 FSTL4_HUMAN follistatin-like 4 precursor 32 extracellular region calcium ion binding central_nervous_system(1)|skin(1) 2 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACCCACATCCGGGCCTCTGC 0.537 53 105 --- --- --- --- PASS PDE6A 5145 broad.mit.edu 37 5 149324107 149324107 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:149324107C>T uc003lrg.3 - 1 250 c.130G>A c.(130-132)GTG>ATG p.V44M NM_000440 NP_000431 P16499 PDE6A_HUMAN phosphodiesterase 6A 44 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CTGAAGTCCACGGCAGCCTCC 0.527 35 39 --- --- --- --- PASS NDST1 3340 broad.mit.edu 37 5 149901021 149901021 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:149901021C>T uc003lsk.3 + 2 707 c.205C>T c.(205-207)CCA>TCA p.P69S NDST1_uc011dcj.1_Missense_Mutation_p.P69S|NDST1_uc003lsl.2_Missense_Mutation_p.P69S NM_001543 NP_001534 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan 69 Heparan sulfate N-deacetylase 1.|Lumenal (Potential). heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(1)|skin(1) 2 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCGCCTGCTGCCACTCAAGCC 0.677 17 22 --- --- --- --- PASS ZNF300 91975 broad.mit.edu 37 5 150276413 150276413 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:150276413C>A uc003lsy.1 - 6 655 c.388G>T c.(388-390)GGT>TGT p.G130C IRGM_uc011dcl.1_Intron NM_052860 NP_443092 Q96RE9 ZN300_HUMAN zinc finger protein 300 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.131) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGACCATCACCTTGACAGACT 0.428 106 138 --- --- --- --- PASS CYFIP2 26999 broad.mit.edu 37 5 156819909 156819909 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:156819909G>A uc003lwq.2 + 33 3801 c.3663G>A c.(3661-3663)CTG>CTA p.L1221L CYFIP2_uc011ddn.1_Silent_p.L1195L|CYFIP2_uc011ddo.1_Silent_p.L1025L|CYFIP2_uc003lwr.2_Silent_p.L1221L|CYFIP2_uc003lws.2_Silent_p.L1221L|CYFIP2_uc003lwt.2_Silent_p.L1124L|CYFIP2_uc011ddp.1_Silent_p.L955L|CYFIP2_uc003lwv.2_Silent_p.L176L NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN cytoplasmic FMR1 interacting protein 2 1246 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding 0 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) TTGCCATCCTGAACAAATACA 0.517 41 162 --- --- --- --- PASS DOCK2 1794 broad.mit.edu 37 5 169122822 169122822 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:169122822G>T uc003maf.2 + 10 939 c.859G>T c.(859-861)GAC>TAC p.D287Y DOCK2_uc011der.1_RNA NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 287 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TGGAAACAAAGACCTCAACAG 0.418 136 135 --- --- --- --- PASS CDHR2 54825 broad.mit.edu 37 5 176004648 176004648 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:176004648C>A uc003mem.1 + 14 1427 c.1361C>A c.(1360-1362)ACA>AAA p.T454K CDHR2_uc003men.1_Missense_Mutation_p.T454K NM_017675 NP_060145 Q9BYE9 CDHR2_HUMAN protocadherin LKC precursor 454 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding ovary(2) 2 GTTGTGGCCACAGACTCCGTC 0.642 6 37 --- --- --- --- PASS NSD1 64324 broad.mit.edu 37 5 176638319 176638319 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr5:176638319G>C uc003mfr.3 + 5 3057 c.2919G>C c.(2917-2919)CAG>CAC p.Q973H NSD1_uc003mft.3_Missense_Mutation_p.Q704H|NSD1_uc003mfs.1_Missense_Mutation_p.Q870H|NSD1_uc011dfx.1_Missense_Mutation_p.Q621H NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 973 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) ATGGCACTCAGAACTCCGCCA 0.517 T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 62 55 --- --- --- --- PASS SERPINB9 5272 broad.mit.edu 37 6 2895721 2895721 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:2895721G>T uc003mug.2 - 4 449 c.328C>A c.(328-330)CAA>AAA p.Q110K uc003mue.2_Intron NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 110 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) TGGTAGAATTGAAGACAGGAT 0.403 49 177 --- --- --- --- PASS SERPINB6 5269 broad.mit.edu 37 6 2948583 2948583 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:2948583C>A uc003muk.2 - 6 3075 c.1080G>T c.(1078-1080)CAG>CAT p.Q360H SERPINB6_uc003mui.2_Missense_Mutation_p.Q243H|SERPINB6_uc003muj.2_RNA|SERPINB6_uc003mul.2_Missense_Mutation_p.Q360H|SERPINB6_uc003mum.2_Missense_Mutation_p.Q360H|SERPINB6_uc003mun.2_Missense_Mutation_p.Q360H|SERPINB6_uc003muo.2_Missense_Mutation_p.Q360H NM_004568 NP_004559 P35237 SPB6_HUMAN serine (or cysteine) proteinase inhibitor, clade 360 regulation of proteolysis centrosome|cytosol|protein complex protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.0895) Drotrecogin alfa(DB00055) TCTTGCTGTGCTGGATGAAGA 0.612 45 163 --- --- --- --- PASS GFOD1 54438 broad.mit.edu 37 6 13365013 13365013 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:13365013C>T uc003nat.1 - 2 1800 c.1135G>A c.(1135-1137)GAG>AAG p.E379K GFOD1_uc003nas.1_Missense_Mutation_p.E276K NM_018988 NP_061861 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain 379 extracellular region binding|oxidoreductase activity ovary(2) 2 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) CGCATGGCCTCGCTGATCAGG 0.612 35 65 --- --- --- --- PASS RNF182 221687 broad.mit.edu 37 6 13977868 13977868 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:13977868G>A uc003nbe.2 + 3 936 c.518G>A c.(517-519)TGC>TAC p.C173Y RNF182_uc003nbf.2_Missense_Mutation_p.C173Y|RNF182_uc003nbg.2_Missense_Mutation_p.C173Y NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 173 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) GTGTGGAACTGCACGTCCCTG 0.512 6 477 --- --- --- --- PASS SCGN 10590 broad.mit.edu 37 6 25670275 25670275 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:25670275G>T uc003nfb.2 + 6 645 c.442G>T c.(442-444)GCT>TCT p.A148S SCGN_uc010jpz.2_Missense_Mutation_p.R57S NM_006998 NP_008929 O76038 SEGN_HUMAN secretagogin precursor 148 extracellular region|transport vesicle membrane calcium ion binding ovary(2)|pancreas(1) 3 CATTTCTGAGGCTAAACTGGA 0.299 20 461 --- --- --- --- PASS BTN2A3 54718 broad.mit.edu 37 6 26423164 26423164 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:26423164A>T uc011dkl.1 + 2 113 c.83A>T c.(82-84)CAG>CTG p.Q28L BTN2A3_uc011dkm.1_RNA RecName: Full=Butyrophilin subfamily 2 member A3; Flags: Precursor; 0 TGAACAGCCCAGGTCACTGTC 0.512 76 50 --- --- --- --- PASS SCAND3 114821 broad.mit.edu 37 6 28542544 28542544 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:28542544A>T uc003nlo.2 - 3 2556 c.1938T>A c.(1936-1938)CTT>CTA p.L646L NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 646 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 TTTCATAGCAAAGGCTACAAG 0.408 8 341 --- --- --- --- PASS LY6G6C 80740 broad.mit.edu 37 6 31686934 31686934 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:31686934G>A uc003nwh.2 - 3 371 c.317C>T c.(316-318)CCA>CTA p.P106L LY6G6C_uc010jtd.2_RNA NM_025261 NP_079537 O95867 LY66C_HUMAN lymphocyte antigen 6 complex G6C precursor 106 UPAR/Ly6. anchored to membrane|plasma membrane 0 GCCCAGGGCTGGAGTGGGCCG 0.602 172 126 --- --- --- --- PASS SKIV2L 6499 broad.mit.edu 37 6 31936519 31936519 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:31936519C>T uc003nyn.1 + 25 3515 c.3126C>T c.(3124-3126)TTC>TTT p.F1042F SKIV2L_uc011dou.1_Silent_p.F884F|SKIV2L_uc011dov.1_Silent_p.F849F|STK19_uc003nyt.2_5'Flank NM_006929 NP_008860 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like homolog 1042 nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1) 4 GGCTGCGCTTCCTACTGTCGG 0.607 44 147 --- --- --- --- PASS COL11A2 1302 broad.mit.edu 37 6 33157234 33157234 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:33157234A>G uc003ocx.1 - 2 323 c.95T>C c.(94-96)GTG>GCG p.V32A COL11A2_uc003ocy.1_Missense_Mutation_p.V32A|COL11A2_uc003ocz.1_Missense_Mutation_p.V32A|COL11A2_uc003oda.2_Missense_Mutation_p.V32A NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 32 TSP N-terminal. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 GAGCACATCCACAGGGGGTGC 0.582 32 103 --- --- --- --- PASS RGL2 5863 broad.mit.edu 37 6 33260956 33260956 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:33260956C>T uc003odv.2 - 16 1977 c.1844G>A c.(1843-1845)CGC>CAC p.R615H RGL2_uc003odu.2_Missense_Mutation_p.R175H|RGL2_uc010jur.2_Missense_Mutation_p.R175H|RGL2_uc003odw.2_Missense_Mutation_p.R533H NM_004761 NP_004752 O15211 RGL2_HUMAN ral guanine nucleotide dissociation 615 Ras protein signal transduction|regulation of small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity skin(3)|lung(1)|breast(1)|pancreas(1) 6 GGCTGAGCGGCGGTGACCTCG 0.662 106 86 --- --- --- --- PASS SRPK1 6732 broad.mit.edu 37 6 35840405 35840405 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:35840405C>T uc003olj.2 - 8 809 c.686G>A c.(685-687)CGG>CAG p.R229Q SRPK1_uc011dtg.1_Missense_Mutation_p.R213Q|SRPK1_uc003olh.2_Missense_Mutation_p.R122Q|SRPK1_uc003oli.2_Missense_Mutation_p.R122Q NM_003137 NP_003128 Q96SB4 SRPK1_HUMAN SFRS protein kinase 1 229 Protein kinase. cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing cytoplasm|nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity ovary(1) 1 AGCCAGCCTCCGAATGTACTG 0.458 13 14 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38819450 38819450 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:38819450G>T uc003ooe.1 + 37 5415 c.4815G>T c.(4813-4815)CAG>CAT p.Q1605H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 ACACCATACAGGTATAATCTA 0.363 25 55 --- --- --- --- PASS KCNK5 8645 broad.mit.edu 37 6 39159251 39159251 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:39159251G>C uc003oon.2 - 5 1279 c.915C>G c.(913-915)ATC>ATG p.I305M NM_003740 NP_003731 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 305 Cytoplasmic (Potential). excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|skin(1) 2 CGATCTGCTTGATGAGGTCGT 0.627 110 314 --- --- --- --- PASS DAAM2 23500 broad.mit.edu 37 6 39846265 39846265 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:39846265G>C uc003oow.2 + 13 1602 c.1446G>C c.(1444-1446)ACG>ACC p.T482T DAAM2_uc010jxc.2_Silent_p.T482T|DAAM2_uc003oox.2_Silent_p.T482T NM_015345 NP_056160 Q86T65 DAAM2_HUMAN dishevelled associated activator of 482 Potential. actin cytoskeleton organization actin binding|Rho GTPase binding ovary(2)|skin(1) 3 Ovarian(28;0.0355)|Colorectal(47;0.196) TGATGCGGACGCTGAACAAAA 0.582 7 10 --- --- --- --- PASS TFAP2D 83741 broad.mit.edu 37 6 50718971 50718971 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:50718971C>A uc003paf.2 + 7 1585 c.1073C>A c.(1072-1074)CCA>CAA p.P358Q TFAP2D_uc011dwt.1_RNA NM_172238 NP_758438 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 beta-like 1 358 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|breast(1) 7 Lung NSC(77;0.0334) GATAGATCACCACTGGGATCC 0.343 26 107 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 73100434 73100434 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:73100434G>T uc003pga.2 + 30 4578 c.4501G>T c.(4501-4503)GGC>TGC p.G1501C RIMS1_uc011dyb.1_Missense_Mutation_p.G898C|RIMS1_uc003pgc.2_Missense_Mutation_p.G950C|RIMS1_uc010kaq.2_Missense_Mutation_p.G821C|RIMS1_uc011dyc.1_Missense_Mutation_p.G626C|RIMS1_uc010kar.2_Missense_Mutation_p.G569C|RIMS1_uc011dyd.1_Missense_Mutation_p.G635C|RIMS1_uc003pgf.2_Missense_Mutation_p.G501C|RIMS1_uc003pgg.2_Missense_Mutation_p.G397C|RIMS1_uc003pgi.2_Missense_Mutation_p.G317C|RIMS1_uc003pgh.2_Missense_Mutation_p.G368C|RIMS1_uc003pgd.2_Missense_Mutation_p.G567C|RIMS1_uc003pge.2_Missense_Mutation_p.G541C|RIMS1_uc011dye.1_Missense_Mutation_p.G307C|RIMS1_uc011dyf.1_Missense_Mutation_p.G125C|RIMS1_uc011dyg.1_Missense_Mutation_p.G28C NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1501 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CAGCTCTGAGGGCAAGTAAGT 0.488 16 45 --- --- --- --- PASS RIMS1 22999 broad.mit.edu 37 6 73100435 73100435 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:73100435G>T uc003pga.2 + 30 4579 c.4502G>T c.(4501-4503)GGC>GTC p.G1501V RIMS1_uc011dyb.1_Missense_Mutation_p.G898V|RIMS1_uc003pgc.2_Missense_Mutation_p.G950V|RIMS1_uc010kaq.2_Missense_Mutation_p.G821V|RIMS1_uc011dyc.1_Missense_Mutation_p.G626V|RIMS1_uc010kar.2_Missense_Mutation_p.G569V|RIMS1_uc011dyd.1_Missense_Mutation_p.G635V|RIMS1_uc003pgf.2_Missense_Mutation_p.G501V|RIMS1_uc003pgg.2_Missense_Mutation_p.G397V|RIMS1_uc003pgi.2_Missense_Mutation_p.G317V|RIMS1_uc003pgh.2_Missense_Mutation_p.G368V|RIMS1_uc003pgd.2_Missense_Mutation_p.G567V|RIMS1_uc003pge.2_Missense_Mutation_p.G541V|RIMS1_uc011dye.1_Missense_Mutation_p.G307V|RIMS1_uc011dyf.1_Missense_Mutation_p.G125V|RIMS1_uc011dyg.1_Missense_Mutation_p.G28V NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1501 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) AGCTCTGAGGGCAAGTAAGTG 0.488 16 45 --- --- --- --- PASS C6orf165 154313 broad.mit.edu 37 6 88128111 88128111 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:88128111G>C uc003plv.2 + 7 909 c.817G>C c.(817-819)GAG>CAG p.E273Q C6orf165_uc003plw.2_Missense_Mutation_p.E85Q|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.E273Q NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 273 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) ACGACAATATGAGGTCTTCCT 0.403 34 125 --- --- --- --- PASS ADAT2 134637 broad.mit.edu 37 6 143755110 143755110 + Silent SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:143755110T>A uc003qjj.2 - 3 256 c.210A>T c.(208-210)CGA>CGT p.R70R ADAT2_uc003qjk.1_RNA NM_182503 NP_872309 Q7Z6V5 ADAT2_HUMAN deaminase domain containing 1 70 tRNA processing hydrolase activity|zinc ion binding 0 OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115) TTTCTGCATGTCGAGTAGCCT 0.428 60 103 --- --- --- --- PASS SYNE1 23345 broad.mit.edu 37 6 152651065 152651065 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:152651065C>A uc010kiw.2 - 78 15357 c.14755G>T c.(14755-14757)GAC>TAC p.D4919Y SYNE1_uc003qot.3_Missense_Mutation_p.D4848Y|SYNE1_uc003qou.3_Missense_Mutation_p.D4919Y|SYNE1_uc010kiz.2_Missense_Mutation_p.D674Y NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4919 Cytoplasmic (Potential).|Potential. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TCTTGGATGTCCTGCAGGTTG 0.498 HNSCC(10;0.0054) 96 232 --- --- --- --- PASS WTAP 9589 broad.mit.edu 37 6 160157288 160157288 + Splice_Site SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:160157288A>T uc003qsl.2 + 2 215 c.-7_splice c.e2-2 WTAP_uc010kjx.2_Splice_Site|WTAP_uc003qsk.2_Splice_Site|WTAP_uc003qsm.1_Splice_Site|WTAP_uc003qsn.2_Splice_Site NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) TTTTTTTTTTAGGATTCAAGA 0.318 5 239 --- --- --- --- PASS PHF10 55274 broad.mit.edu 37 6 170115902 170115902 + Missense_Mutation SNP A C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr6:170115902A>C uc011egy.1 - 6 674 c.595T>G c.(595-597)TAT>GAT p.Y199D PHF10_uc011egz.1_Missense_Mutation_p.Y197D|PHF10_uc011eha.1_Missense_Mutation_p.Y50D NM_018288 NP_060758 Q8WUB8 PHF10_HUMAN PHD finger protein 10 isoform a 199 SAY. nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding urinary_tract(1) 1 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TTCTTAATATACTCAGGCACT 0.353 4 125 --- --- --- --- PASS SNX8 29886 broad.mit.edu 37 7 2297030 2297030 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:2297030G>C uc003slw.2 - 9 1147 c.1104C>G c.(1102-1104)TCC>TCG p.S368S NM_013321 NP_037453 Q9Y5X2 SNX8_HUMAN sorting nexin 8 368 cell communication|early endosome to Golgi transport|intracellular protein transport early endosome membrane phosphatidylinositol binding|protein binding large_intestine(1)|ovary(1) 2 Ovarian(82;0.11) UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14) GCTGCTCCACGGACTCCGGCT 0.687 9 33 --- --- --- --- PASS AMZ1 155185 broad.mit.edu 37 7 2751971 2751971 + Missense_Mutation SNP A C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:2751971A>C uc003smr.1 + 7 1317 c.956A>C c.(955-957)TAC>TCC p.Y319S AMZ1_uc003sms.1_Silent_p.L262L|AMZ1_uc011jwa.1_Missense_Mutation_p.Y68S NM_133463 NP_597720 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 319 metallopeptidase activity|zinc ion binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) TAGAGACTCTACACCTGGACT 0.652 12 26 --- --- --- --- PASS RADIL 55698 broad.mit.edu 37 7 4917591 4917591 + Silent SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:4917591C>A uc003snj.1 - 2 353 c.180G>T c.(178-180)TCG>TCT p.S60S RADIL_uc003sng.1_RNA|RADIL_uc011jwd.1_RNA NM_018059 NP_060529 Q96JH8 RADIL_HUMAN Rap GTPase interactor 60 cell adhesion|multicellular organismal development|signal transduction protein binding lung(2)|central_nervous_system(2)|pancreas(2)|breast(1) 7 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) CACCAGGGGCCGACAGCTGGG 0.657 22 43 --- --- --- --- PASS MRPL32 64983 broad.mit.edu 37 7 42977163 42977163 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:42977163C>T uc003tia.2 + 3 602 c.555C>T c.(553-555)TTC>TTT p.F185F MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_Silent_p.F132F NM_031903 NP_114109 Q9BYC8 RM32_HUMAN mitochondrial ribosomal protein L32 precursor 185 translation large ribosomal subunit|mitochondrial ribosome structural constituent of ribosome 0 CATCCTGGTTCACCCAGAATT 0.428 24 82 --- --- --- --- PASS ADCY1 107 broad.mit.edu 37 7 45701765 45701765 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:45701765G>C uc003tne.3 + 8 1575 c.1557G>C c.(1555-1557)AAG>AAC p.K519N ADCY1_uc003tnd.2_Missense_Mutation_p.K294N NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 519 Interaction with calmodulin (By similarity).|Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) AAATGTTCAAGGCCGAGATCC 0.542 27 61 --- --- --- --- PASS ZNF107 51427 broad.mit.edu 37 7 64167413 64167413 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:64167413A>G uc003ttd.2 + 7 1517 c.731A>G c.(730-732)TAC>TGC p.Y244C ZNF107_uc003tte.2_Missense_Mutation_p.Y244C NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 244 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(55;0.00948)|all_lung(88;0.0249) GAGAACCTCTACAAGTGTAAA 0.368 25 75 --- --- --- --- PASS TYW1 55253 broad.mit.edu 37 7 66490007 66490007 + Nonsense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:66490007A>T uc003tvn.2 + 7 1131 c.982A>T c.(982-984)AAG>TAG p.K328* TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 328 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) GAAGAAAGAAAAGGTACCGTT 0.413 71 198 --- --- --- --- PASS WBSCR17 64409 broad.mit.edu 37 7 70880885 70880885 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:70880885G>T uc003tvy.2 + 4 600 c.600G>T c.(598-600)AAG>AAT p.K200N WBSCR17_uc003tvz.2_Translation_Start_Site NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 200 Catalytic subdomain A.|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) AGGAGCTGAAGGTCCCCCTAG 0.498 15 73 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88965447 88965447 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:88965447C>G uc011khi.1 + 4 3689 c.3151C>G c.(3151-3153)CAA>GAA p.Q1051E NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1051 intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AACAAAAGAACAATCAAAACC 0.353 HNSCC(36;0.09) 37 88 --- --- --- --- PASS PEX1 5189 broad.mit.edu 37 7 92147523 92147523 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:92147523C>A uc003uly.2 - 4 500 c.404G>T c.(403-405)CGA>CTA p.R135L PEX1_uc011khr.1_5'UTR|PEX1_uc010ley.2_Missense_Mutation_p.R135L|PEX1_uc011khs.1_Intron|PEX1_uc011kht.1_5'Flank NM_000466 NP_000457 O43933 PEX1_HUMAN peroxin1 135 microtubule-based peroxisome localization|protein import into peroxisome matrix cytosol|nucleus|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding ovary(1)|central_nervous_system(1) 2 all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592) Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123) GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) AAAAACTATTCGAATTTGATC 0.348 49 91 --- --- --- --- PASS ASB4 51666 broad.mit.edu 37 7 95167000 95167000 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:95167000A>T uc011kij.1 + 5 1210 c.1210A>T c.(1210-1212)ATT>TTT p.I404F NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 404 SOCS box. intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CCATAGAGCAATTCCTTTGCT 0.413 51 158 --- --- --- --- PASS GIGYF1 64599 broad.mit.edu 37 7 100280005 100280005 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:100280005C>T uc003uwg.1 - 21 3710 c.2701G>A c.(2701-2703)GGC>AGC p.G901S NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 901 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGGGTGAAGCCGTCCTGGGGC 0.652 13 35 --- --- --- --- PASS DGKI 9162 broad.mit.edu 37 7 137255959 137255959 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:137255959C>A uc003vtt.2 - 19 1910 c.1909G>T c.(1909-1911)GGT>TGT p.G637C DGKI_uc003vtu.2_Missense_Mutation_p.G337C NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 637 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 TCAATATAACCATCATCATGA 0.378 22 56 --- --- --- --- PASS TAS2R3 50831 broad.mit.edu 37 7 141464388 141464388 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:141464388A>T uc003vwp.1 + 1 492 c.430A>T c.(430-432)AGT>TGT p.S144C NM_016943 NP_058639 Q9NYW6 TA2R3_HUMAN taste receptor T2R3 144 Helical; Name=4; (Potential). sensory perception of taste taste receptor activity central_nervous_system(1) 1 Melanoma(164;0.0171) ATCCTGTGGTAGTACCGCATC 0.473 66 132 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154667727 154667727 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:154667727C>A uc003wlk.2 + 20 2124 c.1995C>A c.(1993-1995)AGC>AGA p.S665R DPP6_uc003wli.2_Missense_Mutation_p.S601R|DPP6_uc003wlm.2_Missense_Mutation_p.S603R|DPP6_uc011kvq.1_Missense_Mutation_p.S558R NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 665 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) GCCGTGGCAGCGGCTTCCAAG 0.662 4 9 --- --- --- --- PASS UBE3C 9690 broad.mit.edu 37 7 157049687 157049687 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr7:157049687A>T uc010lqs.2 + 22 3342 c.3030A>T c.(3028-3030)AAA>AAT p.K1010N UBE3C_uc003wni.3_Missense_Mutation_p.K373N NM_014671 NP_055486 Q15386 UBE3C_HUMAN ubiquitin protein ligase E3C 1010 HECT. protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(2)|large_intestine(1) 5 all_hematologic(28;0.0185)|all_epithelial(9;0.0664) OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.19) AAAAGCGCAAACTGCTGAAGT 0.423 87 216 --- --- --- --- PASS MYOM2 9172 broad.mit.edu 37 8 2024291 2024291 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:2024291C>T uc003wpx.3 + 11 1329 c.1191C>T c.(1189-1191)GAC>GAT p.D397D MYOM2_uc011kwi.1_Intron NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 397 Fibronectin type-III 1. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CCAACCGGGACTACGTCATCG 0.632 7 44 --- --- --- --- PASS SPAG11A 653423 broad.mit.edu 37 8 7718231 7718231 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:7718231T>A uc003wrx.2 + 3 445 c.410T>A c.(409-411)TTT>TAT p.F137Y SPAG11A_uc003wry.2_3'UTR|SPAG11A_uc003wrz.2_Missense_Mutation_p.F93Y|SPAG11A_uc003wsa.2_Intron|SPAG11A_uc003wsb.2_Intron NM_001081552 NP_001075021 Q6PDA7 SG11A_HUMAN sperm associated antigen 11A Error:Variant_position_missing_in_Q6PDA7_after_alignment extracellular region 0 COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236) TGCAGACTTTTTTTCTGCCAT 0.423 8 114 --- --- --- --- PASS FDFT1 2222 broad.mit.edu 37 8 11689122 11689122 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:11689122G>A uc003wui.2 + 7 1127 c.975G>A c.(973-975)ATG>ATA p.M325I FDFT1_uc003wuh.2_Missense_Mutation_p.M261I|FDFT1_uc010lsa.1_Missense_Mutation_p.M240I|FDFT1_uc011kxe.1_Missense_Mutation_p.M261I|FDFT1_uc011kxf.1_Missense_Mutation_p.M282I|FDFT1_uc011kxg.1_Missense_Mutation_p.M158I|FDFT1_uc003wuj.2_Missense_Mutation_p.M318I|FDFT1_uc010lsb.2_Missense_Mutation_p.M261I|FDFT1_uc011kxh.1_Missense_Mutation_p.M261I|FDFT1_uc011kxi.1_RNA|FDFT1_uc011kxj.1_Missense_Mutation_p.M261I|FDFT1_uc003wuk.2_Missense_Mutation_p.M384I|FDFT1_uc011kxk.1_Missense_Mutation_p.M240I NM_004462 NP_004453 P37268 FDFT_HUMAN squalene synthase 325 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity 0 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) TGACCCTGATGATGGATGCCA 0.433 78 265 --- --- --- --- PASS USP17L2 377630 broad.mit.edu 37 8 11995788 11995788 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:11995788G>T uc003wvc.1 - 1 482 c.482C>A c.(481-483)GCC>GAC p.A161D FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 161 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 AAATTCATGGGCATCTTCCTG 0.532 13 34 --- --- --- --- PASS NEFM 4741 broad.mit.edu 37 8 24771859 24771859 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:24771859C>A uc003xed.3 + 1 586 c.553C>A c.(553-555)CTC>ATC p.L185I NEFM_uc011lac.1_Missense_Mutation_p.L185I|NEFM_uc010lue.2_5'Flank|uc010luc.1_Missense_Mutation_p.S70I NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 185 Rod.|Coil 1B. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CATCCACCGGCTCAAGGAGCG 0.657 7 47 --- --- --- --- PASS UNC5D 137970 broad.mit.edu 37 8 35608194 35608194 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:35608194C>T uc003xjr.1 + 13 2358 c.2030C>T c.(2029-2031)GCG>GTG p.A677V UNC5D_uc003xjs.1_Missense_Mutation_p.A672V|UNC5D_uc003xju.1_Missense_Mutation_p.A253V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 677 Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGGACCTATGCGCTCACTGGA 0.502 5 284 --- --- --- --- PASS EFCAB1 79645 broad.mit.edu 37 8 49641664 49641664 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:49641664T>C uc003xqo.2 - 5 673 c.513A>G c.(511-513)GAA>GAG p.E171E EFCAB1_uc003xqn.3_RNA|EFCAB1_uc011ldj.1_Silent_p.E119E|EFCAB1_uc010lxx.2_RNA|EFCAB1_uc011ldk.1_RNA NM_024593 NP_078869 Q9HAE3 EFCB1_HUMAN EF-hand calcium binding domain 1 isoform a 171 EF-hand 3. calcium ion binding 0 all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464) TCACAGCCAGTTCATAGTCTG 0.433 23 69 --- --- --- --- PASS RP1 6101 broad.mit.edu 37 8 55541884 55541884 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:55541884A>T uc003xsd.1 + 4 5590 c.5442A>T c.(5440-5442)CTA>CTT p.L1814L RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1814 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCCTTGAACTAAAATGCAATT 0.443 19 52 --- --- --- --- PASS TOX 9760 broad.mit.edu 37 8 59739410 59739410 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:59739410C>G uc003xtw.1 - 6 1197 c.976G>C c.(976-978)GCA>CCA p.A326P NM_014729 NP_055544 O94900 TOX_HUMAN thymus high mobility group box protein TOX 326 HMG box. nucleus DNA binding kidney(2)|lung(1)|skin(1) 4 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) CTGTATGCTGCGAGTTGCTTC 0.438 12 32 --- --- --- --- PASS CLVS1 157807 broad.mit.edu 37 8 62366772 62366772 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:62366772C>G uc003xuh.2 + 4 1027 c.703C>G c.(703-705)CTC>GTC p.L235V CLVS1_uc003xui.2_RNA|CLVS1_uc010lyp.2_Missense_Mutation_p.L235V NM_173519 NP_775790 Q8IUQ0 CLVS1_HUMAN retinaldehyde binding protein 1-like 1 235 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity skin(4)|ovary(1) 5 CCTCTACACACTCATCAAGCC 0.438 70 270 --- --- --- --- PASS NCOA2 10499 broad.mit.edu 37 8 71050559 71050559 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:71050559C>G uc003xyn.1 - 15 3199 c.3037G>C c.(3037-3039)GAA>CAA p.E1013Q NCOA2_uc011lfb.1_Missense_Mutation_p.E101Q NM_006540 NP_006531 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 1013 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4) lung(6)|soft_tissue(4)|breast(2)|skin(2)|ovary(1)|pancreas(1) 16 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) ATCTCTAATTCAGATGGCCCT 0.413 T RUNXBP2 AML 10 23 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89053690 89053690 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:89053690C>T uc003yeb.3 - 10 2105 c.1823G>A c.(1822-1824)TGA>TAA p.*608* NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 608 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 AACCCTACATCACACCCACTC 0.433 54 129 --- --- --- --- PASS MMP16 4325 broad.mit.edu 37 8 89339430 89339430 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:89339430G>T uc003yeb.3 - 1 288 c.6C>A c.(4-6)ATC>ATA p.I2I MMP16_uc003yec.2_Silent_p.I2I NM_005941 NP_005932 P51512 MMP16_HUMAN matrix metalloproteinase 16 isoform 1 2 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1) 8 ATGTGAGTAAGATCATAGTGA 0.373 70 240 --- --- --- --- PASS ESRP1 54845 broad.mit.edu 37 8 95686605 95686605 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:95686605T>C uc003ygq.3 + 12 1705 c.1522T>C c.(1522-1524)TGT>CGT p.C508R ESRP1_uc003ygr.3_Missense_Mutation_p.C508R|ESRP1_uc003ygs.3_Missense_Mutation_p.C508R|ESRP1_uc003ygt.3_Missense_Mutation_p.C508R|ESRP1_uc003ygu.3_Missense_Mutation_p.C508R|ESRP1_uc003ygv.2_Missense_Mutation_p.C348R|ESRP1_uc003ygw.2_Missense_Mutation_p.C348R NM_017697 NP_060167 Q6NXG1 ESRP1_HUMAN RNA binding motif protein 35A isoform 1 508 RRM 3. mRNA processing|regulation of RNA splicing|RNA splicing nucleus|plasma membrane mRNA binding|nucleotide binding ESRP1/RAF1(4) prostate(4) 4 TGCACAGAAGTGTCATAAAAA 0.433 31 91 --- --- --- --- PASS ATP6V1C1 528 broad.mit.edu 37 8 104075191 104075191 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:104075191C>T uc003ykz.3 + 9 895 c.650C>T c.(649-651)TCA>TTA p.S217L ATP6V1C1_uc010mbz.2_Missense_Mutation_p.S142L|ATP6V1C1_uc003yla.2_Missense_Mutation_p.S217L|ATP6V1C1_uc011lhl.1_Missense_Mutation_p.S142L NM_001695 NP_001686 P21283 VATC1_HUMAN ATPase, H+ transporting, lysosomal V1 subunit 217 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism 0 Lung NSC(17;0.000427)|all_lung(17;0.000533) OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133) AGTGTTCTTTCAGAGGACCAA 0.348 46 139 --- --- --- --- PASS TAF2 6873 broad.mit.edu 37 8 120770319 120770319 + Missense_Mutation SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:120770319T>G uc003you.2 - 21 3032 c.2762A>C c.(2761-2763)TAT>TCT p.Y921S NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 921 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TAACCTTACATAGGGTACAGG 0.289 4 152 --- --- --- --- PASS KIAA0196 9897 broad.mit.edu 37 8 126079900 126079900 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:126079900C>T uc003yrt.2 - 10 1541 c.1212G>A c.(1210-1212)CGG>CGA p.R404R KIAA0196_uc011lir.1_Silent_p.R256R|KIAA0196_uc003yru.1_5'UTR NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 404 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TGGGATTGTACCGAGAGTCTG 0.398 7 188 --- --- --- --- PASS ADCY8 114 broad.mit.edu 37 8 131792811 131792811 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:131792811G>C uc003ytd.3 - 18 3837 c.3581C>G c.(3580-3582)GCG>GGG p.A1194G ADCY8_uc010mds.2_Missense_Mutation_p.A1063G NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 1194 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CAGGACAACCGCGGCCAGGGA 0.507 HNSCC(32;0.087) 32 75 --- --- --- --- PASS KCNQ3 3786 broad.mit.edu 37 8 133141622 133141622 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:133141622C>A uc003ytj.2 - 15 2731 c.2506G>T c.(2506-2508)GGT>TGT p.G836C KCNQ3_uc010mdt.2_Missense_Mutation_p.G824C|uc003yti.2_5'Flank NM_004519 NP_004510 O43525 KCNQ3_HUMAN potassium voltage-gated channel KQT-like protein 836 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) TCCGTCTCACCCTCGGCGAGG 0.592 21 50 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139838949 139838949 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:139838949C>T uc003yvd.2 - 6 1368 c.921G>A c.(919-921)AAG>AAA p.K307K NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 307 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACCAGTCTTCCTTCCGAGAGG 0.507 HNSCC(7;0.00092) 52 94 --- --- --- --- PASS CYP11B1 1584 broad.mit.edu 37 8 143955799 143955799 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:143955799G>C uc003yxi.2 - 9 1509 c.1502C>G c.(1501-1503)GCC>GGC p.A501G CYP11B1_uc010mex.2_Missense_Mutation_p.A200G|CYP11B1_uc003yxh.2_Missense_Mutation_p.A151G|CYP11B1_uc003yxj.2_Missense_Mutation_p.A435G|CYP11B1_uc010mey.2_Missense_Mutation_p.A572G NM_000497 NP_000488 P15538 C11B1_HUMAN cytochrome P450, family 11, subfamily B, 501 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process mitochondrial inner membrane electron carrier activity|steroid 11-beta-monooxygenase activity ovary(3) 3 all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Mitotane(DB00648) TTAGTTGATGGCTCTGAAGGT 0.567 Familial_Hyperaldosteronism_type_I 7 193 --- --- --- --- PASS RECQL4 9401 broad.mit.edu 37 8 145737345 145737345 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr8:145737345C>T uc003zdj.2 - 20 3374 c.3342G>A c.(3340-3342)CAG>CAA p.Q1114Q NM_004260 NP_004251 O94761 RECQ4_HUMAN RecQ protein-like 4 1114 DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|lung(1)|skin(1) 4 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CTCCCGGCTCCTGCCCTTCCT 0.677 N|F|S osteosarcoma|skin basal and sqamous cell Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents RAPADILINO_syndrome|Rothmund-Thomson_syndrome|Baller-Gerold_syndrome 7 21 --- --- --- --- PASS KIAA1161 57462 broad.mit.edu 37 9 34372105 34372105 + Silent SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:34372105C>G uc003zue.3 - 3 1004 c.837G>C c.(835-837)CTG>CTC p.L279L NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 279 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CTCGGTAGCTCAGCTCTGGCG 0.667 11 48 --- --- --- --- PASS DNAI1 27019 broad.mit.edu 37 9 34514434 34514434 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:34514434G>A uc003zum.2 + 17 1805 c.1612G>A c.(1612-1614)GCC>ACC p.A538T NM_012144 NP_036276 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 538 WD 3. cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity 0 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) CACCTATGACGCCCACAACAT 0.557 Kartagener_syndrome 87 315 --- --- --- --- PASS FBXO10 26267 broad.mit.edu 37 9 37541752 37541752 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:37541752C>A uc004aab.2 - 2 63 c.14G>T c.(13-15)GGC>GTC p.G5V FBXO10_uc004aac.2_Missense_Mutation_p.G21V|FBXO10_uc004aad.2_Intron NM_012166 NP_036298 Q9UK96 FBX10_HUMAN F-box protein 10 5 F-box. ubiquitin ligase complex ubiquitin-protein ligase activity lung(5) 5 GBM - Glioblastoma multiforme(29;0.0107) CAAGGGGAGGCCACCAGCCTC 0.493 13 49 --- --- --- --- PASS TRPM3 80036 broad.mit.edu 37 9 73296450 73296450 + Silent SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:73296450A>G uc004aid.2 - 9 1561 c.1317T>C c.(1315-1317)GAT>GAC p.D439D TRPM3_uc004ahu.2_Silent_p.D269D|TRPM3_uc004ahv.2_Silent_p.D269D|TRPM3_uc004ahw.2_Silent_p.D311D|TRPM3_uc004ahx.2_Silent_p.D286D|TRPM3_uc004ahy.2_Silent_p.D311D|TRPM3_uc004ahz.2_Silent_p.D286D|TRPM3_uc004aia.2_Silent_p.D286D|TRPM3_uc004aib.2_Silent_p.D286D|TRPM3_uc004aic.2_Silent_p.D439D|TRPM3_uc010mor.2_Silent_p.D439D NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 464 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 GGATAGCCAAATCAATGTCCT 0.383 35 142 --- --- --- --- PASS MRPL50 54534 broad.mit.edu 37 9 104160868 104160868 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:104160868C>A uc004bbe.2 - 1 52 c.7G>T c.(7-9)GCG>TCG p.A3S MRPL50_uc011lvj.1_Missense_Mutation_p.A3S|ZNF189_uc004bbg.1_5'Flank|ZNF189_uc004bbh.1_5'Flank|ZNF189_uc004bbi.1_5'Flank|ZNF189_uc011lvk.1_5'Flank NM_019051 NP_061924 Q8N5N7 RM50_HUMAN mitochondrial ribosomal protein L50 3 mitochondrion|ribosome 0 Acute lymphoblastic leukemia(62;0.0559) ACAGATCGCGCCGCCATCTTC 0.537 4 137 --- --- --- --- PASS PRPF4 9128 broad.mit.edu 37 9 116045413 116045413 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:116045413A>G uc004bgx.2 + 5 535 c.485A>G c.(484-486)TAT>TGT p.Y162C PRPF4_uc004bgy.2_Missense_Mutation_p.Y161C NM_004697 NP_004688 O43172 PRP4_HUMAN PRP4 pre-mRNA processing factor 4 homolog 162 Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP protein binding ovary(2)|pancreas(1) 3 GCCTTTCAGTATCAGCAAACC 0.408 104 240 --- --- --- --- PASS TNC 3371 broad.mit.edu 37 9 117846753 117846753 + Splice_Site SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:117846753T>C uc004bjj.3 - 4 2230 c.1868_splice c.e4-1 p.V623_splice TNC_uc010mvf.2_Splice_Site_p.V623_splice NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GAGGAGACACTGGCAGGAATA 0.502 35 68 --- --- --- --- PASS DBC1 1620 broad.mit.edu 37 9 121971016 121971016 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:121971016G>T uc004bkc.2 - 7 1582 c.1126C>A c.(1126-1128)CAC>AAC p.H376N NM_014618 NP_055433 O60477 DBC1_HUMAN deleted in bladder cancer 1 precursor 376 cell cycle arrest|cell death cytoplasm protein binding skin(3)|ovary(2)|central_nervous_system(2)|large_intestine(1) 8 GGCAGCTGGTGGTTGGGATTG 0.552 18 72 --- --- --- --- PASS CDK5RAP2 55755 broad.mit.edu 37 9 123330665 123330665 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr9:123330665C>T uc004bkf.2 - 3 310 c.129G>A c.(127-129)CTG>CTA p.L43L CDK5RAP2_uc004bkg.2_Silent_p.L43L|CDK5RAP2_uc011lxw.1_5'UTR|CDK5RAP2_uc011lxx.1_RNA|CDK5RAP2_uc011lxy.1_RNA|CDK5RAP2_uc011lxz.1_5'UTR|CDK5RAP2_uc011lya.1_5'UTR|CDK5RAP2_uc004bkh.1_Silent_p.L43L NM_018249 NP_060719 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 43 L -> V (in Ref. 3; AAP41926). brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding ovary(2)|lung(1)|skin(1) 4 CATTTGGGAGCACTGTAAAAA 0.438 81 287 --- --- --- --- PASS ADARB2 105 broad.mit.edu 37 10 1245948 1245948 + Nonsense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:1245948G>A uc009xhq.2 - 8 2196 c.1822C>T c.(1822-1824)CAG>TAG p.Q608* ADARB2_uc001igm.3_Nonsense_Mutation_p.Q117* NM_018702 NP_061172 Q9NS39 RED2_HUMAN adenosine deaminase, RNA-specific, B2 608 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GCGGGCAGCTGGCCGACACCC 0.687 8 7 --- --- --- --- PASS GATA3 2625 broad.mit.edu 37 10 8115758 8115758 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:8115758G>A uc001ika.2 + 6 1661 c.1104G>A c.(1102-1104)ATG>ATA p.M368I GATA3_uc001ijz.2_Missense_Mutation_p.M369I NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 368 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 ACCGAAAAATGTCTAGCAAAT 0.403 F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 52 83 --- --- --- --- PASS BAMBI 25805 broad.mit.edu 37 10 28970226 28970226 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:28970226C>A uc001iuj.1 + 2 519 c.116C>A c.(115-117)GCC>GAC p.A39D BAMBI_uc001iui.2_Missense_Mutation_p.A39D NM_012342 NP_036474 Q13145 BAMBI_HUMAN BMP and activin membrane-bound inhibitor 39 Extracellular (Potential). cell migration|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|positive regulation of protein binding|positive regulation of transcription, DNA-dependent|regulation of cell shape cytoplasm|integral to membrane|plasma membrane frizzled binding|type II transforming growth factor beta receptor binding central_nervous_system(4) 4 CACTGTGTAGCCACTGGTTAT 0.463 35 68 --- --- --- --- PASS LYZL2 119180 broad.mit.edu 37 10 30918610 30918610 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:30918610G>C uc001ivk.2 - 1 38 c.25C>G c.(25-27)CTG>GTG p.L9V NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 Error:Variant_position_missing_in_Q7Z4W2_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) GTCGGTGACAGGCAGCTCAGG 0.502 11 26 --- --- --- --- PASS LYZL2 119180 broad.mit.edu 37 10 30918611 30918611 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:30918611G>A uc001ivk.2 - 1 37 c.24C>T c.(22-24)TGC>TGT p.C8C NM_183058 NP_898881 Q7Z4W2 LYZL2_HUMAN lysozyme-like 2 Error:Variant_position_missing_in_Q7Z4W2_after_alignment cell wall macromolecule catabolic process extracellular region lysozyme activity 0 Prostate(175;0.151) TCGGTGACAGGCAGCTCAGGG 0.507 11 26 --- --- --- --- PASS NRP1 8829 broad.mit.edu 37 10 33559685 33559685 + Silent SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:33559685C>A uc001iwx.3 - 3 871 c.348G>T c.(346-348)GGG>GGT p.G116G NRP1_uc001iwv.3_Silent_p.G116G|NRP1_uc009xlz.2_Silent_p.G116G|NRP1_uc001iww.3_Intron|NRP1_uc001iwy.3_Silent_p.G116G|NRP1_uc001iwz.2_Silent_p.G116G|NRP1_uc001ixa.2_Silent_p.G116G|NRP1_uc001ixb.1_Silent_p.G116G|NRP1_uc001ixc.1_Silent_p.G116G NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 116 CUB 1.|Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) AAAGAAATGGCCCTGAAGACA 0.413 5 146 --- --- --- --- PASS CREM 1390 broad.mit.edu 37 10 35437385 35437385 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:35437385A>T uc001iyb.2 + 3 296 c.134A>T c.(133-135)CAG>CTG p.Q45L CREM_uc001ixx.2_Missense_Mutation_p.Q29L|CREM_uc001ixy.2_Intron|CREM_uc001ixz.2_Intron|CREM_uc001iya.2_Missense_Mutation_p.Q45L|CREM_uc001iyc.2_Missense_Mutation_p.Q29L|CREM_uc001iyd.2_Missense_Mutation_p.Q45L|CREM_uc001iye.2_Missense_Mutation_p.Q45L NM_181571 NP_853549 Q03060 CREM_HUMAN cAMP responsive element modulator isoform a 45 cell differentiation|multicellular organismal development|signal transduction|spermatogenesis nucleus cAMP response element binding protein binding|protein binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTGCAGACTCAGACTGGCCAA 0.428 34 84 --- --- --- --- PASS ZNF25 219749 broad.mit.edu 37 10 38241502 38241502 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:38241502G>C uc001ize.1 - 6 1029 c.924C>G c.(922-924)CAC>CAG p.H308Q ZNF25_uc001izf.1_Missense_Mutation_p.H272Q NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 308 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) TCTCTCCTGTGTGACTTCTCT 0.438 23 74 --- --- --- --- PASS FRMPD2 143162 broad.mit.edu 37 10 49440322 49440322 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:49440322C>A uc001jgi.2 - 10 1111 c.1004G>T c.(1003-1005)GGG>GTG p.G335V FRMPD2_uc001jgh.2_Missense_Mutation_p.G304V|FRMPD2_uc001jgj.2_Missense_Mutation_p.G313V NM_001018071 NP_001018081 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 isoform 3 335 tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding large_intestine(1) 1 Kidney(211;0.201) ATAGGATTTCCCTTTTTTGGT 0.308 15 40 --- --- --- --- PASS TET1 80312 broad.mit.edu 37 10 70446445 70446445 + Silent SNP T G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:70446445T>G uc001jok.3 + 11 5890 c.5385T>G c.(5383-5385)CCT>CCG p.P1795P NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1795 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 ACAGTAAGCCTTCGTCACTGC 0.428 51 118 --- --- --- --- PASS ADAMTS14 140766 broad.mit.edu 37 10 72462179 72462179 + Missense_Mutation SNP G A A rs141188417 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:72462179G>A uc001jrh.2 + 3 634 c.634G>A c.(634-636)GTC>ATC p.V212I ADAMTS14_uc001jrg.2_Missense_Mutation_p.V212I NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 212 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 CCGGGAGGCCGTCCAGCAGGA 0.622 37 68 --- --- --- --- PASS VCL 7414 broad.mit.edu 37 10 75854156 75854156 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:75854156G>C uc001jwd.2 + 11 1574 c.1480G>C c.(1480-1482)GAG>CAG p.E494Q VCL_uc009xrr.2_Missense_Mutation_p.E243Q|VCL_uc010qky.1_Missense_Mutation_p.E401Q|VCL_uc001jwe.2_Missense_Mutation_p.E494Q|VCL_uc010qkz.1_Intron NM_014000 NP_054706 P18206 VINC_HUMAN vinculin isoform meta-VCL 494 N-terminal globular head.|3.|3 X 112 AA tandem repeats. adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface costamere|cytosol|extracellular region|focal adhesion actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity VCL/ALK(4) kidney(4)|ovary(1)|central_nervous_system(1) 6 Prostate(51;0.0112) TGTACACCTTGAGGGCAAGAT 0.557 17 38 --- --- --- --- PASS LRIT1 26103 broad.mit.edu 37 10 85997240 85997240 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:85997240G>T uc001kcz.1 - 2 347 c.325C>A c.(325-327)CTG>ATG p.L109M NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 109 LRR 3.|Lumenal (Potential). integral to endoplasmic reticulum membrane 0 AGCTCCCGCAGGCGTCGCAGG 0.741 7 15 --- --- --- --- PASS DMBT1 1755 broad.mit.edu 37 10 124352026 124352026 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:124352026C>A uc001lgk.1 + 20 2521 c.2415C>A c.(2413-2415)CAC>CAA p.H805Q DMBT1_uc001lgl.1_Missense_Mutation_p.H795Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.H805Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.H418Q NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 805 SRCR 6. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GCTCAGGACACGAGTCCTACC 0.622 4 124 --- --- --- --- PASS SYCE1 93426 broad.mit.edu 37 10 135370274 135370274 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr10:135370274A>T uc001lno.2 - 8 622 c.517T>A c.(517-519)TGG>AGG p.W173R CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45R|SYCE1_uc009ybn.2_Missense_Mutation_p.W173R|SYCE1_uc001lnn.2_Missense_Mutation_p.W137R NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 173 Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) TGGAAGTCCCAGAGGTCCTTG 0.517 6 13 --- --- --- --- PASS MUC2 4583 broad.mit.edu 37 11 1088727 1088727 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:1088727G>T uc001lsx.1 + 26 3539 c.3512G>T c.(3511-3513)AGG>ATG p.R1171M NM_002457 NP_002448 Q02817 MUC2_HUMAN mucin 2 precursor 1171 inner mucus layer|outer mucus layer protein binding lung(1)|breast(1) 2 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CCCAAGGACAGGCCCATCTAT 0.622 7 18 --- --- --- --- PASS TRPM5 29850 broad.mit.edu 37 11 2444157 2444157 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:2444157C>G uc001lwm.3 - 1 119 c.110G>C c.(109-111)CGA>CCA p.R37P TRPM5_uc010qxl.1_Missense_Mutation_p.R37P|TRPM5_uc009ydn.2_Missense_Mutation_p.R37P NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN transient receptor potential cation channel, 37 Cytoplasmic (Potential). integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) TACCTTGCCTCGCTTCTTCCC 0.657 43 107 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068057 5068057 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:5068057C>A uc010qyv.1 + 1 302 c.302C>A c.(301-303)GCC>GAC p.A101D NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 101 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) GCTTGTGTGGCCCAGATGTTT 0.493 33 69 --- --- --- --- PASS OR52J3 119679 broad.mit.edu 37 11 5068180 5068180 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:5068180T>A uc010qyv.1 + 1 425 c.425T>A c.(424-426)GTG>GAG p.V142E NM_001001916 NP_001001916 Q8NH60 O52J3_HUMAN olfactory receptor, family 52, subfamily J, 142 Helical; Name=4; (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) ACATCCCAAGTGTTGGTGGGC 0.478 25 54 --- --- --- --- PASS SLC6A5 9152 broad.mit.edu 37 11 20657899 20657899 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:20657899G>T uc001mqd.2 + 11 1944 c.1671G>T c.(1669-1671)CTG>CTT p.L557L SLC6A5_uc009yic.2_Silent_p.L322L NM_004211 NP_004202 Q9Y345 SC6A5_HUMAN solute carrier family 6 (neurotransmitter 557 Helical; Name=8; (Potential). synaptic transmission integral to membrane|plasma membrane glycine:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(2)|breast(1)|skin(1) 4 Glycine(DB00145) TAACCAGGCTGCCTCTCTCTC 0.478 25 95 --- --- --- --- PASS ACCSL 390110 broad.mit.edu 37 11 44074600 44074600 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:44074600G>C uc001mxw.1 + 7 986 c.930G>C c.(928-930)CTG>CTC p.L310L ACCSL_uc009ykr.2_Silent_p.L129L NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 310 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 AGGAAGCCCTGCTTGAAGCTA 0.438 42 157 --- --- --- --- PASS DGKZ 8525 broad.mit.edu 37 11 46394213 46394213 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:46394213G>A uc001ncn.1 + 13 1746 c.1621G>A c.(1621-1623)GGG>AGG p.G541R DGKZ_uc001nch.1_Missense_Mutation_p.G369R|DGKZ_uc010rgq.1_Missense_Mutation_p.G296R|DGKZ_uc001ncj.1_Missense_Mutation_p.G319R|DGKZ_uc010rgr.1_Missense_Mutation_p.G318R|DGKZ_uc001nck.1_Missense_Mutation_p.G131R|DGKZ_uc001ncl.2_Missense_Mutation_p.G353R|DGKZ_uc001ncm.2_Missense_Mutation_p.G352R|DGKZ_uc009yky.1_Missense_Mutation_p.G353R|DGKZ_uc010rgs.1_Missense_Mutation_p.G330R NM_001105540 NP_001099010 Q13574 DGKZ_HUMAN diacylglycerol kinase zeta isoform 4 541 DAGKc.|Mediates interaction with RASGRP1. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation cytoplasm|lamellipodium|nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding pancreas(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141) CCTGGCGTGCGGGGGCGACGG 0.662 16 57 --- --- --- --- PASS TRIM48 79097 broad.mit.edu 37 11 55032464 55032464 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:55032464G>T uc010rid.1 + 2 219 c.133G>T c.(133-135)GAC>TAC p.D45Y NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 29 RING-type. intracellular zinc ion binding 0 GGTCACCATAGACTGTGGGCA 0.468 7 446 --- --- --- --- PASS OR5L2 26338 broad.mit.edu 37 11 55595086 55595086 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:55595086T>C uc001nhy.1 + 1 392 c.392T>C c.(391-393)CTG>CCG p.L131P NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) AACCCCCTGCTGTACATGGTG 0.522 HNSCC(27;0.073) 94 298 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995960 57995960 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:57995960T>C uc010rkd.1 - 1 388 c.388A>G c.(388-390)ATC>GTC p.I130V NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 130 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GGGTGGCAGATAGCCACATAG 0.612 15 65 --- --- --- --- PASS OR5B12 390191 broad.mit.edu 37 11 58207164 58207164 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:58207164G>T uc010rkh.1 - 1 461 c.461C>A c.(460-462)GCA>GAA p.A154E NM_001004733 NP_001004733 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, 154 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(5;0.0027) Breast(21;0.0778) ATGAATGGATGCATTCAGGAA 0.453 39 174 --- --- --- --- PASS MS4A14 84689 broad.mit.edu 37 11 60165446 60165446 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:60165446C>A uc001npj.2 + 2 825 c.260C>A c.(259-261)GCA>GAA p.A87E MS4A14_uc001npi.2_Intron|MS4A14_uc001npn.2_5'UTR|MS4A14_uc001npk.2_Missense_Mutation_p.A87E|MS4A14_uc001npl.2_5'UTR|MS4A14_uc001npm.2_5'UTR NM_032597 NP_115986 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 87 Helical; (Potential). integral to membrane receptor activity breast(1) 1 TTCTGGGGAGCACTTATTGTG 0.323 18 66 --- --- --- --- PASS PRPF19 27339 broad.mit.edu 37 11 60665318 60665318 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:60665318C>T uc001nqf.2 - 15 1624 c.1417G>A c.(1417-1419)GAG>AAG p.E473K NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 473 WD 7. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 CAGCCTCTACCTGTAAAGTGA 0.532 49 202 --- --- --- --- PASS HRASLS5 117245 broad.mit.edu 37 11 63230995 63230995 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:63230995G>T uc001nwy.2 - 6 994 c.820C>A c.(820-822)CCC>ACC p.P274T HRASLS5_uc001nwz.2_Missense_Mutation_p.P264T|HRASLS5_uc010rmq.1_3'UTR|HRASLS5_uc009yos.2_RNA NM_054108 NP_473449 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 isoform 1 274 ovary(1) 1 ATTGGTTTGGGCTTTATGCTA 0.473 68 232 --- --- --- --- PASS NUDT22 84304 broad.mit.edu 37 11 63996966 63996966 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:63996966G>C uc001nyp.3 + 5 874 c.694G>C c.(694-696)GAG>CAG p.E232Q NUDT22_uc009ype.2_Missense_Mutation_p.E232Q|NUDT22_uc001nyq.3_Missense_Mutation_p.E199Q|NUDT22_uc010rng.1_RNA|uc001nyr.1_3'UTR|DNAJC4_uc001nys.2_5'Flank|DNAJC4_uc001nyt.2_5'Flank|DNAJC4_uc001nyu.2_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety 232 Nudix hydrolase. hydrolase activity 0 CCTGACTTCTGAGCAGGTGAG 0.587 73 239 --- --- --- --- PASS C11orf2 738 broad.mit.edu 37 11 64875684 64875684 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:64875684C>T uc001ocr.1 + 5 781 c.741C>T c.(739-741)GGC>GGT p.G247G C11orf2_uc001ocs.1_Silent_p.G123G NM_013265 NP_037397 Q9UID3 FFR_HUMAN chromosome 11 open reading frame 2 247 lipid transport|protein transport Golgi apparatus|integral to membrane 0 GCGGCTCAGGCGCCCCGGAGC 0.721 6 8 --- --- --- --- PASS CD248 57124 broad.mit.edu 37 11 66082942 66082942 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:66082942G>A uc001ohm.1 - 1 1574 c.1557C>T c.(1555-1557)ACC>ACT p.T519T NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 519 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CCGGATATTTGGTTGAGATCA 0.572 76 194 --- --- --- --- PASS DHCR7 1717 broad.mit.edu 37 11 71146456 71146456 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:71146456C>A uc001oqk.2 - 9 1643 c.1393G>T c.(1393-1395)GCA>TCA p.A465S DHCR7_uc001oql.2_Missense_Mutation_p.A465S NM_001163817 NP_001157289 Q9UBM7 DHCR7_HUMAN 7-dehydrocholesterol reductase 465 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane 7-dehydrocholesterol reductase activity|protein binding ovary(1)|liver(1) 2 NADH(DB00157) TAAGGCACTGCGGCGGTGTAG 0.652 Smith-Lemli-Opitz_syndrome 45 126 --- --- --- --- PASS MAP6 4135 broad.mit.edu 37 11 75298589 75298589 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:75298589T>A uc001owu.2 - 4 2022 c.1957A>T c.(1957-1959)ATG>TTG p.M653L NM_033063 NP_149052 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 isoform 1 653 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding 0 Ovarian(111;0.11) GCTGTGGCCATGGCACTTTCA 0.498 5 426 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92590384 92590384 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:92590384A>T uc001pdj.3 + 19 11387 c.11370A>T c.(11368-11370)GGA>GGT p.G3790G FAT3_uc001pdi.3_Silent_p.G230G NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3790 Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCACAGGAGGACTGTGTCCGG 0.517 TCGA Ovarian(4;0.039) 40 139 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92600220 92600220 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:92600220T>C uc001pdj.3 + 21 11989 c.11972T>C c.(11971-11973)CTG>CCG p.L3991P FAT3_uc001pdi.3_Missense_Mutation_p.L431P NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3991 Laminin G-like.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TCGGTGATACTGAATAACAAT 0.637 TCGA Ovarian(4;0.039) 4 6 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92600221 92600221 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:92600221G>T uc001pdj.3 + 21 11990 c.11973G>T c.(11971-11973)CTG>CTT p.L3991L FAT3_uc001pdi.3_Silent_p.L431L NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 3991 Laminin G-like.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CGGTGATACTGAATAACAATG 0.637 TCGA Ovarian(4;0.039) 4 6 --- --- --- --- PASS TRPC6 7225 broad.mit.edu 37 11 101362427 101362427 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:101362427C>A uc001pgk.3 - 3 1413 c.988G>T c.(988-990)GTT>TTT p.V330F TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Missense_Mutation_p.V330F NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 330 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) AGGAGTCCAACAACAAAGTCT 0.418 69 221 --- --- --- --- PASS MMP7 4316 broad.mit.edu 37 11 102398592 102398592 + Silent SNP G T T rs17879417 byFrequency TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:102398592G>T uc001phb.2 - 2 278 c.231C>A c.(229-231)CGC>CGA p.R77R MMP7_uc009yxd.2_Silent_p.R77R|MMP7_uc010rus.1_Silent_p.R77R NM_002423 NP_002414 P09237 MMP7_HUMAN matrix metalloproteinase 7 preproprotein 77 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(1) 1 all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0147) TTTCTATGACGCGGGAGTTTA 0.408 57 182 --- --- --- --- PASS CASP4 837 broad.mit.edu 37 11 104819395 104819395 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:104819395C>A uc001pid.1 - 6 863 c.790G>T c.(790-792)GGG>TGG p.G264W CASP4_uc001pib.1_Missense_Mutation_p.G208W|CASP4_uc009yxg.1_Missense_Mutation_p.G173W NM_001225 NP_001216 P49662 CASP4_HUMAN caspase 4 isoform alpha precursor 264 apoptosis|induction of apoptosis|proteolysis intracellular cysteine-type endopeptidase activity|protein binding lung(2)|ovary(1)|skin(1) 4 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047) BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357) CACAGTTCCCCACGGTTTGCT 0.488 13 98 --- --- --- --- PASS NPAT 4863 broad.mit.edu 37 11 108032402 108032402 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:108032402C>T uc001pjz.3 - 17 3513 c.3411G>A c.(3409-3411)CGG>CGA p.R1137R NPAT_uc010rvv.1_Silent_p.R193R NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 1137 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TGGTGGTATGCCGGCTAATGG 0.383 4 230 --- --- --- --- PASS EXPH5 23086 broad.mit.edu 37 11 108382569 108382569 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:108382569C>A uc001pkk.2 - 6 3776 c.3665G>T c.(3664-3666)CGT>CTT p.R1222L EXPH5_uc010rvy.1_Missense_Mutation_p.R1034L|EXPH5_uc010rvz.1_Missense_Mutation_p.R1066L|EXPH5_uc010rwa.1_Missense_Mutation_p.R1146L NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 1222 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TGTTTTCCCACGTTCTTTTCC 0.383 54 263 --- --- --- --- PASS FAM55D 54827 broad.mit.edu 37 11 114453140 114453140 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:114453140C>A uc001ppc.2 - 3 881 c.700G>T c.(700-702)GAC>TAC p.D234Y FAM55D_uc001ppd.2_Intron NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 234 extracellular region ovary(2)|skin(2) 4 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) TCTCTGTTGTCCAGGTACTGG 0.468 58 185 --- --- --- --- PASS IL10RA 3587 broad.mit.edu 37 11 117860271 117860271 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:117860271G>T uc001prv.2 + 3 380 c.303G>T c.(301-303)CGG>CGT p.R101R IL10RA_uc010rxl.1_Silent_p.R81R|IL10RA_uc010rxm.1_Silent_p.R81R|IL10RA_uc010rxn.1_Intron|IL10RA_uc001prw.2_5'UTR NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 101 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) CCAGAGTGCGGGCTGTGGACG 0.577 17 39 --- --- --- --- PASS HINFP 25988 broad.mit.edu 37 11 119004999 119004999 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr11:119004999G>C uc001pvp.2 + 11 1534 c.1345G>C c.(1345-1347)GAA>CAA p.E449Q HINFP_uc001pvq.2_Missense_Mutation_p.E449Q|HINFP_uc001pvr.2_Missense_Mutation_p.E202Q NM_015517 NP_056332 Q9BQA5 HINFP_HUMAN MBD2 (methyl-CpG-binding protein)-interacting 449 Interaction with NPAT. DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding pancreas(2)|ovary(1)|skin(1) 4 CAAGGGTAGCGAAGGGACAGC 0.562 OREG0021397 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 100 --- --- --- --- PASS WNK1 65125 broad.mit.edu 37 12 994800 994800 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:994800G>T uc001qio.3 + 19 5337 c.4830G>T c.(4828-4830)GTG>GTT p.V1610V WNK1_uc001qip.3_Silent_p.V1363V|WNK1_uc001qir.3_Silent_p.V783V NM_018979 NP_061852 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 1610 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1) 23 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTGCCAATGTGCCTGCTGTAC 0.478 125 213 --- --- --- --- PASS ZNF384 171017 broad.mit.edu 37 12 6788168 6788168 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:6788168G>T uc010sfh.1 - 4 456 c.248C>A c.(247-249)TCC>TAC p.S83Y ZNF384_uc001qpz.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqa.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqb.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqc.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqd.2_Missense_Mutation_p.S83Y|ZNF384_uc001qqe.2_Missense_Mutation_p.S83Y|ZNF384_uc009zew.1_5'Flank NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 83 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 CTGGGTAACGGACGCTTGGCT 0.562 T EWSR1|TAF15 ALL 60 364 --- --- --- --- PASS ZNF384 171017 broad.mit.edu 37 12 6788212 6788212 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:6788212G>T uc010sfh.1 - 4 412 c.204C>A c.(202-204)GAC>GAA p.D68E ZNF384_uc001qpz.2_Missense_Mutation_p.D68E|ZNF384_uc001qqa.2_Missense_Mutation_p.D68E|ZNF384_uc001qqb.2_Missense_Mutation_p.D68E|ZNF384_uc001qqc.2_Missense_Mutation_p.D68E|ZNF384_uc001qqd.2_Missense_Mutation_p.D68E|ZNF384_uc001qqe.2_Missense_Mutation_p.D68E|ZNF384_uc009zew.1_5'Flank NM_001135734 NP_001129206 Q8TF68 ZN384_HUMAN nuclear matrix transcription factor 4 isoform d 68 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) haematopoietic_and_lymphoid_tissue(4)|central_nervous_system(3)|kidney(1) 8 TGGACTCTGTGTCCATACTGA 0.592 T EWSR1|TAF15 ALL 59 361 --- --- --- --- PASS C1S 716 broad.mit.edu 37 12 7177909 7177909 + Nonsense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:7177909G>A uc001qsj.2 + 15 2740 c.2021G>A c.(2020-2022)TGG>TAG p.W674* C1S_uc001qsk.2_Nonsense_Mutation_p.W674*|C1S_uc001qsl.2_Nonsense_Mutation_p.W674*|C1S_uc009zfr.2_Nonsense_Mutation_p.W507*|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 674 Peptidase S1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TATGTTGACTGGATAATGAAG 0.522 5 409 --- --- --- --- PASS CLEC4C 170482 broad.mit.edu 37 12 7882298 7882298 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:7882298C>A uc001qtg.1 - 6 710 c.536G>T c.(535-537)CGT>CTT p.R179L CLEC4C_uc001qth.1_Missense_Mutation_p.R179L|CLEC4C_uc001qti.1_Missense_Mutation_p.R148L NM_130441 NP_569708 Q8WTT0 CLC4C_HUMAN C-type lectin domain family 4, member C isoform 179 Extracellular (Potential).|C-type lectin. innate immune response integral to membrane sugar binding ovary(2)|skin(1) 3 Kidney(36;0.0915) TATCGCACAACGCTCATCAAG 0.418 93 488 --- --- --- --- PASS SLC2A3 6515 broad.mit.edu 37 12 8082408 8082408 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:8082408C>T uc001qtr.2 - 6 995 c.733G>A c.(733-735)GAG>AAG p.E245K SLC2A3_uc001qts.2_3'UTR NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 245 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) CTTGCACTCTCATCTTTCATC 0.483 63 249 --- --- --- --- PASS CLEC4E 26253 broad.mit.edu 37 12 8692491 8692491 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:8692491G>A uc001quo.1 - 2 255 c.90C>T c.(88-90)CCC>CCT p.P30P NM_014358 NP_055173 Q9ULY5 CLC4E_HUMAN C-type lectin domain family 4, member E 30 Helical; Signal-anchor for type II membrane protein; (Potential). integral to membrane sugar binding central_nervous_system(1) 1 Lung SC(5;0.184) GAAATAGGATGGGGATCCCAG 0.413 162 328 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9304822 9304822 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:9304822T>C uc001qvl.2 - 32 4235 c.4206A>G c.(4204-4206)GTA>GTG p.V1402V PZP_uc009zgl.2_Silent_p.V1188V NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CTACCATTTTTACTGTTGGTT 0.363 35 141 --- --- --- --- PASS TAS2R19 259294 broad.mit.edu 37 12 11174603 11174603 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:11174603G>C uc010shj.1 - 1 568 c.568C>G c.(568-570)CTG>GTG p.L190V PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176888 NP_795369 P59542 T2R19_HUMAN taste receptor, type 2, member 19 190 Helical; Name=5; (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity skin(1) 1 ATTAGGCTCAGAGTAAAGGGT 0.398 60 310 --- --- --- --- PASS ATF7IP 55729 broad.mit.edu 37 12 14613884 14613884 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:14613884G>C uc001rbw.2 + 9 2772 c.2614G>C c.(2614-2616)GTG>CTG p.V872L ATF7IP_uc010shs.1_3'UTR|ATF7IP_uc001rbu.2_Missense_Mutation_p.V872L|ATF7IP_uc001rbv.1_Missense_Mutation_p.V871L|ATF7IP_uc001rbx.2_Missense_Mutation_p.V871L|ATF7IP_uc010sht.1_3'UTR|ATF7IP_uc001rby.3_Missense_Mutation_p.V872L|ATF7IP_uc001rca.2_Missense_Mutation_p.V872L NM_018179 NP_060649 Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting 872 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding lung(3)|ovary(1)|skin(1) 5 AACACTTGCTGTGCAGGCTGT 0.493 37 93 --- --- --- --- PASS PIK3C2G 5288 broad.mit.edu 37 12 18715656 18715656 + Nonsense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:18715656G>T uc001rdt.2 + 26 3603 c.3487G>T c.(3487-3489)GAG>TAG p.E1163* PIK3C2G_uc010sia.1_RNA|PIK3C2G_uc010sib.1_Nonsense_Mutation_p.E1204*|PIK3C2G_uc010sic.1_Nonsense_Mutation_p.E982* NM_004570 NP_004561 O75747 P3C2G_HUMAN phosphoinositide-3-kinase, class 2 gamma 1163 PI3K/PI4K. cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(8)|central_nervous_system(6)|breast(3)|stomach(2)|ovary(2) 21 Hepatocellular(102;0.194) GGAAAGTCTGGAGTGTTTCCC 0.378 5 27 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21446895 21446895 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:21446895C>T uc001rer.2 - 10 1672 c.1421G>A c.(1420-1422)GGA>GAA p.G474E SLCO1A2_uc001res.2_Missense_Mutation_p.G474E|SLCO1A2_uc010siq.1_Missense_Mutation_p.G342E|SLCO1A2_uc010sio.1_Missense_Mutation_p.G342E|SLCO1A2_uc010sip.1_Missense_Mutation_p.G342E|SLCO1A2_uc001ret.2_Missense_Mutation_p.G472E NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 474 Extracellular (Potential).|Kazal-like. bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 TATTCCCGTTCCAATGGATGT 0.393 18 107 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 21968726 21968726 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:21968726C>A uc001rfi.1 - 32 4014 c.3994G>T c.(3994-3996)GTC>TTC p.V1332F ABCC9_uc001rfh.2_Missense_Mutation_p.V1332F|ABCC9_uc001rfj.1_Missense_Mutation_p.V1296F NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 1332 Cytoplasmic (Potential).|ABC transporter 2. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TAAGCCTTGACGTGCTTAAGA 0.383 42 216 --- --- --- --- PASS ALG10 84920 broad.mit.edu 37 12 34175630 34175630 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:34175630A>T uc001rlm.2 + 1 415 c.96A>T c.(94-96)CGA>CGT p.R32R NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 32 Extracellular (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) GGGCGTTGCGAGAGCCCTACA 0.597 108 447 --- --- --- --- PASS SLC4A8 9498 broad.mit.edu 37 12 51847358 51847358 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:51847358G>A uc001rys.1 + 5 627 c.449G>A c.(448-450)GGA>GAA p.G150E SLC4A8_uc010sni.1_Missense_Mutation_p.G97E|SLC4A8_uc001rym.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryn.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryo.2_Missense_Mutation_p.G97E|SLC4A8_uc001ryp.1_Missense_Mutation_p.G97E|SLC4A8_uc010snj.1_Missense_Mutation_p.G177E|SLC4A8_uc001ryq.3_Missense_Mutation_p.G150E|SLC4A8_uc001ryr.2_Missense_Mutation_p.G150E|SLC4A8_uc010snk.1_Missense_Mutation_p.G97E NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 150 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) GAAGATGGGGGAGAACGCTGG 0.418 44 104 --- --- --- --- PASS SCN8A 6334 broad.mit.edu 37 12 52156414 52156414 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:52156414G>C uc001ryw.2 + 15 2676 c.2498G>C c.(2497-2499)AGT>ACT p.S833T SCN8A_uc010snl.1_Missense_Mutation_p.S698T|SCN8A_uc001ryy.2_Missense_Mutation_p.S698T NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 833 Helical; Name=S3 of repeat II; (Potential).|II. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) ATGGAACTGAGTCTAGCAGAC 0.408 46 122 --- --- --- --- PASS NAB2 4665 broad.mit.edu 37 12 57485758 57485758 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:57485758G>T uc001smz.2 + 2 1312 c.934G>T c.(934-936)GGC>TGC p.G312C NM_005967 NP_005958 Q15742 NAB2_HUMAN NGFI-A binding protein 2 312 NCD2. cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity upper_aerodigestive_tract(1)|ovary(1) 2 GCGGCGGGAGGGCAAGCAGCT 0.547 39 87 --- --- --- --- PASS SRRM4 84530 broad.mit.edu 37 12 119419808 119419808 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr12:119419808C>A uc001txa.1 + 1 413 c.121C>A c.(121-123)CCG>ACG p.P41T NM_194286 NP_919262 A7MD48 SRRM4_HUMAN KIAA1853 protein 41 cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding ovary(2) 2 GGCCCGCAAGCCGCTGCCAAG 0.607 3 3 --- --- --- --- PASS RNF17 56163 broad.mit.edu 37 13 25363490 25363490 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr13:25363490T>A uc001upr.2 + 8 829 c.788T>A c.(787-789)ATC>AAC p.I263N RNF17_uc010tdd.1_Missense_Mutation_p.I122N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.I263N|RNF17_uc001ups.2_Missense_Mutation_p.I202N|RNF17_uc001upq.1_Missense_Mutation_p.I263N NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 263 multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) TTCTAGATTATCCGGACTTTG 0.333 52 122 --- --- --- --- PASS BRCA2 675 broad.mit.edu 37 13 32907110 32907110 + Nonsense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr13:32907110C>T uc001uub.1 + 10 1722 c.1495C>T c.(1495-1497)CAG>TAG p.Q499* BRCA2_uc001uua.1_Nonsense_Mutation_p.Q376* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 499 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTCTTCATTTCAGGGTATCAA 0.358 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 34 73 --- --- --- --- PASS C13orf36 400120 broad.mit.edu 37 13 37269404 37269404 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr13:37269404C>T uc001uvt.3 + 2 635 c.189C>T c.(187-189)CTC>CTT p.L63L NM_203451 NP_982276 A2A2V5 CM036_HUMAN hypothetical protein LOC400120 63 Helical; (Potential). integral to membrane skin(1) 1 TCATTGCCCTCCAGAGGCTCA 0.473 105 262 --- --- --- --- PASS LRCH1 23143 broad.mit.edu 37 13 47262104 47262104 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr13:47262104G>T uc001vbj.2 + 6 1176 c.940G>T c.(940-942)GTG>TTG p.V314L LRCH1_uc010acp.2_Missense_Mutation_p.V314L|LRCH1_uc001vbk.2_Missense_Mutation_p.V314L|LRCH1_uc001vbl.3_Missense_Mutation_p.V314L NM_015116 NP_055931 Q9Y2L9 LRCH1_HUMAN leucine-rich repeats and calponin homology (CH) 314 ovary(1)|central_nervous_system(1) 2 all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000123) ACACCAGCACGTGGAAGATGG 0.448 33 57 --- --- --- --- PASS PCDH17 27253 broad.mit.edu 37 13 58207715 58207715 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr13:58207715C>A uc001vhq.1 + 1 1927 c.1035C>A c.(1033-1035)AAC>AAA p.N345K PCDH17_uc010aec.1_Missense_Mutation_p.N345K NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 345 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) TCGACCGCAACGACAATGCGC 0.657 38 69 --- --- --- --- PASS COL4A1 1282 broad.mit.edu 37 13 110866278 110866278 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr13:110866278G>C uc001vqw.3 - 3 351 c.229C>G c.(229-231)CAA>GAA p.Q77E COL4A1_uc010agl.2_Missense_Mutation_p.Q77E NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 77 angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CTTACCTTTTGTCCTGGTGGT 0.522 5 585 --- --- --- --- PASS OR4K2 390431 broad.mit.edu 37 14 20345323 20345323 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:20345323G>T uc001vwh.1 + 1 897 c.897G>T c.(895-897)AGG>AGT p.R299S NM_001005501 NP_001005501 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, 299 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TAGCCATGAGGAAACTGAAAA 0.343 23 207 --- --- --- --- PASS OR4K5 79317 broad.mit.edu 37 14 20389653 20389653 + Silent SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:20389653T>A uc010tkw.1 + 1 888 c.888T>A c.(886-888)GCT>GCA p.A296A NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, 296 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) ATATGAAGGCTGCCGTAAGGA 0.388 24 218 --- --- --- --- PASS RNASE2 6036 broad.mit.edu 37 14 21424410 21424410 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:21424410C>G uc010aif.2 + 2 549 c.480C>G c.(478-480)ATC>ATG p.I160M RNASE2_uc001vyl.1_Missense_Mutation_p.I160M NM_002934 NP_002925 P10153 RNAS2_HUMAN ribonuclease, RNase A family, 2 (liver, 160 chemotaxis|RNA catabolic process extracellular region|lysosome nucleic acid binding|pancreatic ribonuclease activity ovary(1) 1 all_cancers(95;0.00381) OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07) GBM - Glioblastoma multiforme(265;0.0187) TGGATAGAATCATCTAAGCTC 0.458 96 285 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21623614 21623614 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:21623614C>A uc010tlp.1 - 1 571 c.571G>T c.(571-573)GTC>TTC p.V191F NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 191 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) GAGGCACAGACCTCAGGAGAC 0.502 16 59 --- --- --- --- PASS OR5AU1 390445 broad.mit.edu 37 14 21623615 21623615 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:21623615C>A uc010tlp.1 - 1 570 c.570G>T c.(568-570)GAG>GAT p.E190D NM_001004731 NP_001004731 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, 190 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) AGGCACAGACCTCAGGAGACA 0.507 15 59 --- --- --- --- PASS OR10G2 26534 broad.mit.edu 37 14 22102181 22102181 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:22102181A>G uc010tmc.1 - 1 818 c.818T>C c.(817-819)CTG>CCG p.L273P NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, 273 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TGCCCCATCCAGGGGGTCTTT 0.542 18 67 --- --- --- --- PASS KLHL28 54813 broad.mit.edu 37 14 45403624 45403624 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:45403624C>G uc001wvq.2 - 3 1283 c.1037G>C c.(1036-1038)GGC>GCC p.G346A KLHL28_uc001wvr.2_Missense_Mutation_p.G346A NM_017658 NP_060128 Q9NXS3 KLH28_HUMAN BTB (POZ) domain containing 5 346 Kelch 2. ovary(1) 1 GATAGTGACGCCAGGACGCAC 0.393 42 143 --- --- --- --- PASS SDCCAG1 9147 broad.mit.edu 37 14 50295371 50295371 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:50295371C>T uc001wxc.2 - 14 1455 c.1387G>A c.(1387-1389)GTT>ATT p.V463I SDCCAG1_uc010anj.1_Missense_Mutation_p.V463I|SDCCAG1_uc010tqi.1_Missense_Mutation_p.V463I|SDCCAG1_uc001wxe.2_Missense_Mutation_p.V421I|SDCCAG1_uc001wxd.1_5'UTR|SDCCAG1_uc010anq.1_Missense_Mutation_p.V234I NM_004713 NP_004704 O60524 NEMF_HUMAN serologically defined colon cancer antigen 1 463 cytoplasm|nucleus 0 all_epithelial(31;0.000822)|Breast(41;0.0117) all_lung(585;1.02e-05) OV - Ovarian serous cystadenocarcinoma(311;5.99e-34) CTGAGATCAACATCTACAAGT 0.333 31 191 --- --- --- --- PASS KCNH5 27133 broad.mit.edu 37 14 63174853 63174853 + Silent SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:63174853A>G uc001xfx.2 - 11 2391 c.2340T>C c.(2338-2340)GAT>GAC p.D780D KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 780 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GTTCCATGGCATCACGGTTGT 0.493 51 98 --- --- --- --- PASS POMT2 29954 broad.mit.edu 37 14 77746415 77746415 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:77746415G>A uc001xti.2 - 17 1935 c.1734C>T c.(1732-1734)CGC>CGT p.R578R POMT2_uc001xth.1_Silent_p.R276R NM_013382 NP_037514 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 578 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding ovary(1) 1 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) CCCCTGAGAAGCGTAGGCCCT 0.597 46 64 --- --- --- --- PASS VIPAR 63894 broad.mit.edu 37 14 77894748 77894748 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:77894748C>G uc001xtt.1 - 20 1764 c.1426G>C c.(1426-1428)GAG>CAG p.E476Q VIPAR_uc001xtu.1_Missense_Mutation_p.E476Q|VIPAR_uc010tvj.1_Missense_Mutation_p.E427Q|VIPAR_uc001xtv.1_Missense_Mutation_p.E476Q NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN hypothetical protein LOC63894 476 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding central_nervous_system(1) 1 TTCTCCTCCTCTGCTGATCCT 0.483 59 57 --- --- --- --- PASS EIF5 1983 broad.mit.edu 37 14 103802424 103802424 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:103802424G>A uc001ymq.2 + 4 646 c.124G>A c.(124-126)GTT>ATT p.V42I EIF5_uc001ymr.2_Missense_Mutation_p.V42I|EIF5_uc001yms.2_Missense_Mutation_p.V42I|EIF5_uc001ymt.2_Missense_Mutation_p.V42I|EIF5_uc001ymu.2_Missense_Mutation_p.V42I|SNORA28_uc001ymv.1_5'Flank NM_001969 NP_001960 P55010 IF5_HUMAN eukaryotic translation initiation factor 5 42 regulation of translational initiation|RNA metabolic process cytosol GTP binding|GTPase activity|translation initiation factor activity pancreas(1)|breast(1)|skin(1) 3 Melanoma(154;0.155) Epithelial(46;0.182) CATGGTTGACGTTGCAAAGGC 0.413 26 162 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105406083 105406083 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:105406083G>A uc010axc.1 - 7 15825 c.15705C>T c.(15703-15705)TTC>TTT p.F5235F AHNAK2_uc001ypx.2_Silent_p.F5135F NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 5235 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CAGAAACAAGGAACTCTTTGA 0.542 149 676 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105420878 105420878 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:105420878G>T uc010axc.1 - 7 1030 c.910C>A c.(910-912)CTC>ATC p.L304I AHNAK2_uc001ypx.2_Missense_Mutation_p.L204I NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 304 nucleus ovary(1) 1 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCCACCGTGAGCTGGGCCTCT 0.652 9 61 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106347400 106347400 + RNA SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:106347400G>T uc010tyt.1 - 3213 c.50474C>A Parts of antibodies, mostly variable regions. 0 CATTGTGGTAGCCGCTGCTAT 0.567 5 96 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106691831 106691831 + RNA SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:106691831C>T uc010tyt.1 - 754 c.20532G>A Parts of antibodies, mostly variable regions. 0 GAGACCCACTCCAGCCCCTTC 0.537 100 331 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106691966 106691966 + RNA SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:106691966C>A uc010tyt.1 - 754 c.20397G>T Parts of antibodies, mostly variable regions. 0 AGCTGCACCTCACACTGGACA 0.522 49 225 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106691978 106691978 + RNA SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:106691978C>G uc010tyt.1 - 754 c.20385G>C Parts of antibodies, mostly variable regions. 0 CACTGGACACCTGCAAACAGA 0.527 54 252 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 106926211 106926211 + RNA SNP C A A rs116899367 by1000genomes TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:106926211C>A uc010tyt.1 - 235 c.10344G>T uc010tyu.1_Intron Parts of antibodies, mostly variable regions. 0 TAATACAAGGCGGTGTCCTCA 0.512 84 558 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107078546 107078546 + RNA SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr14:107078546G>T uc010tyt.1 - 117 c.5744C>A Parts of antibodies, mostly variable regions. 0 CGTTGTCCACGAGCCTGTCGC 0.532 19 76 --- --- --- --- PASS RPUSD2 27079 broad.mit.edu 37 15 40861942 40861942 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:40861942G>C uc001zmd.1 + 1 406 c.406G>C c.(406-408)GAG>CAG p.E136Q NM_152260 NP_689473 Q8IZ73 RUSD2_HUMAN RNA pseudouridylate synthase domain containing 136 pseudouridine synthesis protein binding|pseudouridine synthase activity|RNA binding skin(1) 1 all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786) TTATTACTTCGAGGGCGGCCT 0.617 14 14 --- --- --- --- PASS INO80 54617 broad.mit.edu 37 15 41279304 41279304 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:41279304C>T uc001zni.2 - 31 4030 c.3817G>A c.(3817-3819)GAG>AAG p.E1273K INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 1273 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TTCTCCAACTCTTCGTCGTCT 0.463 30 62 --- --- --- --- PASS ZFP106 64397 broad.mit.edu 37 15 42742495 42742495 + Nonsense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:42742495T>A uc001zpw.2 - 2 2241 c.1906A>T c.(1906-1908)AGA>TGA p.R636* ZFP106_uc001zpu.2_5'Flank|ZFP106_uc001zpv.2_Intron|ZFP106_uc001zpx.2_Intron|ZFP106_uc010udh.1_Nonsense_Mutation_p.R419*|ZFP106_uc001zpy.1_Nonsense_Mutation_p.R659* NM_022473 NP_071918 Q9H2Y7 ZF106_HUMAN zinc finger protein 106 homolog 636 nucleolus zinc ion binding central_nervous_system(2)|ovary(1) 3 all_cancers(109;1.63e-12)|all_epithelial(112;3.97e-11)|Lung NSC(122;2.04e-07)|all_lung(180;8.31e-07)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(94;8.6e-07) GATAGCTCTCTAGAAGTCTTC 0.453 109 258 --- --- --- --- PASS UBR1 197131 broad.mit.edu 37 15 43314927 43314927 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:43314927T>C uc001zqq.2 - 26 2878 c.2812A>G c.(2812-2814)ACA>GCA p.T938A UBR1_uc010udk.1_Missense_Mutation_p.T938A NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 938 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AAGTCAAATGTTACTTCTTCT 0.333 20 47 --- --- --- --- PASS B2M 567 broad.mit.edu 37 15 45003747 45003747 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:45003747G>A uc001zuc.2 + 1 63 c.3G>A c.(1-3)ATG>ATA p.M1I B2M_uc010uek.1_Missense_Mutation_p.M1I|B2M_uc010bdx.1_Missense_Mutation_p.M1I NM_004048 NP_004039 P61769 B2MG_HUMAN beta-2-microglobulin precursor 1 antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction early endosome membrane|Golgi membrane|MHC class I protein complex protein binding p.M1V(2) ovary(2)|skin(1) 3 all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122) all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192) GGGCCGAGATGTCTCGCTCCG 0.612 35 66 --- --- --- --- PASS ATP8B4 79895 broad.mit.edu 37 15 50264806 50264806 + Nonsense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:50264806T>A uc001zxu.2 - 13 1358 c.1216A>T c.(1216-1218)AGA>TGA p.R406* ATP8B4_uc010ber.2_Nonsense_Mutation_p.R279*|ATP8B4_uc010ufd.1_Nonsense_Mutation_p.R279*|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 406 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATGGAACATCTTTTAAAGGTC 0.388 21 62 --- --- --- --- PASS LRRC49 54839 broad.mit.edu 37 15 71211506 71211506 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:71211506T>C uc002asw.2 + 7 932 c.685T>C c.(685-687)TTG>CTG p.L229L LRRC49_uc002asu.2_Silent_p.L219L|LRRC49_uc002asx.2_Silent_p.L185L|LRRC49_uc010ukf.1_Silent_p.L234L|LRRC49_uc002asy.2_5'UTR|LRRC49_uc002asz.2_Silent_p.L201L NM_017691 NP_060161 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 229 LRR 6. cytoplasm|microtubule ovary(1) 1 TGAACTTAACTTGCGACACAA 0.328 50 144 --- --- --- --- PASS THSD4 79875 broad.mit.edu 37 15 71952965 71952965 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:71952965G>C uc002atb.1 + 7 1328 c.1249G>C c.(1249-1251)GTG>CTG p.V417L THSD4_uc002atd.1_Missense_Mutation_p.V91L|THSD4_uc010ukg.1_Missense_Mutation_p.V57L|THSD4_uc002ate.2_Missense_Mutation_p.V57L NM_024817 NP_079093 Q6ZMP0 THSD4_HUMAN thrombospondin, type I, domain containing 4 417 proteinaceous extracellular matrix metalloendopeptidase activity ovary(2) 2 TGTGTCGGGCGTGTTTAAGCA 0.552 51 156 --- --- --- --- PASS SYNM 23336 broad.mit.edu 37 15 99672069 99672069 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr15:99672069C>T uc002bup.2 + 6 3624 c.3504C>T c.(3502-3504)AGC>AGT p.S1168S SYNM_uc002buo.2_Intron|SYNM_uc002buq.2_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN desmuslin isoform A 1168 Tail.|Interaction with TLN1 and VCL. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding ovary(3)|central_nervous_system(1) 4 CCGGAGCCAGCCGGTCTGTGA 0.612 3 44 --- --- --- --- PASS CP110 9738 broad.mit.edu 37 16 19556465 19556465 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:19556465C>A uc002dgl.3 + 10 2883 c.2636C>A c.(2635-2637)GCA>GAA p.A879E CP110_uc002dgk.3_Missense_Mutation_p.A879E O43303 CP110_HUMAN RecName: Full=Centrosomal protein of 110 kDa; Short=Cep110; 879 centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis centriole|cytosol protein binding 0 GTAATGGATGCAGCTGAAAGA 0.353 4 119 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20471458 20471458 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:20471458C>G uc010bwe.2 + 3 261 c.22C>G c.(22-24)CAG>GAG p.Q8E ACSM2A_uc010bwd.1_RNA|ACSM2A_uc010vax.1_Intron|ACSM2A_uc002dhf.3_Missense_Mutation_p.Q8E|ACSM2A_uc002dhg.3_Missense_Mutation_p.Q8E|ACSM2A_uc010vay.1_Intron NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 8 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 GCGAAAAGTTCAGGGACTTTG 0.498 11 36 --- --- --- --- PASS DNAH3 55567 broad.mit.edu 37 16 21108759 21108759 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:21108759G>T uc010vbe.1 - 18 2582 c.2582C>A c.(2581-2583)GCC>GAC p.A861D NM_017539 NP_060009 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 861 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity ovary(10)|skin(3)|large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1) 18 GBM - Glioblastoma multiforme(48;0.207) CTTCAGCATGGCCTGCAGAAG 0.463 65 161 --- --- --- --- PASS RBL2 5934 broad.mit.edu 37 16 53504378 53504378 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:53504378A>T uc002ehi.3 + 16 2447 c.2329A>T c.(2329-2331)ATC>TTC p.I777F RBL2_uc002ehj.2_Missense_Mutation_p.I487F|RBL2_uc010vgw.1_Intron NM_005611 NP_005602 Q08999 RBL2_HUMAN retinoblastoma-like 2 (p130) 777 Spacer.|Pocket; binds E1A. cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(2)|lung(2)|upper_aerodigestive_tract(1) 5 GACAGGCTCCATCCAGCCCCT 0.512 18 27 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71482506 71482506 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:71482506T>C uc002faf.2 - 6 2236 c.1422A>G c.(1420-1422)AAA>AAG p.K474K ZNF23_uc002fad.2_Silent_p.K416K|ZNF23_uc002fae.2_Silent_p.K416K|ZNF23_uc010vmf.1_Silent_p.K416K|ZNF23_uc002fag.2_Silent_p.K416K|ZNF23_uc002fah.2_Silent_p.K474K|ZNF23_uc002fai.2_Silent_p.K513K NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 474 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) ATTCAAAAGGTTTCTCCCCAG 0.433 26 82 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71482585 71482585 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:71482585T>A uc002faf.2 - 6 2157 c.1343A>T c.(1342-1344)TAT>TTT p.Y448F ZNF23_uc002fad.2_Missense_Mutation_p.Y390F|ZNF23_uc002fae.2_Missense_Mutation_p.Y390F|ZNF23_uc010vmf.1_Missense_Mutation_p.Y390F|ZNF23_uc002fag.2_Missense_Mutation_p.Y390F|ZNF23_uc002fah.2_Missense_Mutation_p.Y448F|ZNF23_uc002fai.2_Missense_Mutation_p.Y487F NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 448 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) ATTACACTCATAGGGCTTCTC 0.458 7 71 --- --- --- --- PASS ZNF23 7571 broad.mit.edu 37 16 71482587 71482587 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:71482587G>A uc002faf.2 - 6 2155 c.1341C>T c.(1339-1341)CCC>CCT p.P447P ZNF23_uc002fad.2_Silent_p.P389P|ZNF23_uc002fae.2_Silent_p.P389P|ZNF23_uc010vmf.1_Silent_p.P389P|ZNF23_uc002fag.2_Silent_p.P389P|ZNF23_uc002fah.2_Silent_p.P447P|ZNF23_uc002fai.2_Silent_p.P486P NM_145911 NP_666016 P17027 ZNF23_HUMAN zinc finger protein 23 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) TACACTCATAGGGCTTCTCCC 0.458 6 68 --- --- --- --- PASS MLKL 197259 broad.mit.edu 37 16 74712798 74712798 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:74712798T>C uc002fdb.2 - 7 1478 c.1037A>G c.(1036-1038)AAG>AGG p.K346R MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 346 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 CACACTCACCTTCACTTGGTA 0.517 26 67 --- --- --- --- PASS CHST6 4166 broad.mit.edu 37 16 75512582 75512582 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr16:75512582C>T uc002fef.2 - 3 1325 c.1145G>A c.(1144-1146)GGC>GAC p.G382D CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Missense_Mutation_p.G382D NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 382 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 CCAAGTGAAGCCGTTCAGGCC 0.642 43 78 --- --- --- --- PASS ABR 29 broad.mit.edu 37 17 915092 915092 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:915092C>T uc002fsd.2 - 19 2205 c.2095G>A c.(2095-2097)GAT>AAT p.D699N ABR_uc002fse.2_Missense_Mutation_p.D653N|ABR_uc010vqf.1_Missense_Mutation_p.D150N|ABR_uc010vqg.1_Missense_Mutation_p.D481N|ABR_uc002fsg.2_Missense_Mutation_p.D662N|ABR_uc002fsh.1_Missense_Mutation_p.D307N|ABR_uc002fsf.2_Missense_Mutation_p.D236N NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 699 Rho-GAP. 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) TCACTGGCATCGAAGACGGCC 0.642 33 88 --- --- --- --- PASS METT10D 79066 broad.mit.edu 37 17 2405605 2405605 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:2405605C>T uc002fut.2 - 2 169 c.21G>A c.(19-21)ATG>ATA p.M7I METT10D_uc002fuu.3_RNA|METT10D_uc010cka.2_Intron|METT10D_uc002fuv.2_Missense_Mutation_p.M7I|METT10D_uc010vqx.1_RNA|METT10D_uc010vqy.1_5'UTR NM_024086 NP_076991 Q86W50 MET16_HUMAN methyltransferase 10 domain containing 7 methyltransferase activity 0 TTCTTGCATGCATTGATTTAC 0.308 5 203 --- --- --- --- PASS OR1D4 8385 broad.mit.edu 37 17 2966397 2966397 + Missense_Mutation SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:2966397A>G uc010vra.1 - 1 559 c.559T>C c.(559-561)TGT>CGT p.C187R NM_003552 NP_003543 olfactory receptor, family 1, subfamily D, 0 CGAGGCCCACAGAAGGTCACC 0.557 6 42 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577532 7577532 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:7577532G>A uc002gim.2 - 7 943 c.749C>T c.(748-750)CCC>CTC p.P250L TP53_uc002gig.1_Missense_Mutation_p.P250L|TP53_uc002gih.2_Missense_Mutation_p.P250L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P118L|TP53_uc010cng.1_Missense_Mutation_p.P118L|TP53_uc002gii.1_Missense_Mutation_p.P118L|TP53_uc010cnh.1_Missense_Mutation_p.P250L|TP53_uc010cni.1_Missense_Mutation_p.P250L|TP53_uc002gij.2_Missense_Mutation_p.P250L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P157L|TP53_uc002gio.2_Missense_Mutation_p.P118L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 250 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> L (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|RP -> SS (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P250L(37)|p.P250S(12)|p.0?(7)|p.P250P(4)|p.P250F(3)|p.P250N(2)|p.P250A(2)|p.M246_P250delMNRRP(2)|p.P250Q(2)|p.P250_L252delPIL(2)|p.P250H(1)|p.P250_I251insXXXXXX(1)|p.N247_P250delNRRP(1)|p.P250T(1)|p.P250_T253delPILT(1)|p.R249_P250insR(1)|p.R249_I251delRPI(1)|p.R248_P250delRRP(1)|p.P250_I251insXXXXXXX(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_P250>SS(1)|p.R249_P250delRP(1)|p.P250_I251insX(1)|p.P250fs*14(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGAGGATGGGCCTCCGGTT 0.577 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 38 81 --- --- --- --- PASS DNAH9 1770 broad.mit.edu 37 17 11784586 11784586 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:11784586C>A uc002gne.2 + 55 10730 c.10662C>A c.(10660-10662)CAC>CAA p.H3554Q DNAH9_uc010coo.2_Missense_Mutation_p.H2848Q|DNAH9_uc002gnf.2_5'Flank NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 3554 AAA 5 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TCATCCTCCACACCAAGCTGG 0.512 36 139 --- --- --- --- PASS TEKT3 64518 broad.mit.edu 37 17 15234796 15234796 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:15234796C>A uc002gon.2 - 3 294 c.107G>T c.(106-108)CGC>CTC p.R36L NM_031898 NP_114104 Q9BXF9 TEKT3_HUMAN tektin 3 36 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule ovary(2) 2 UCEC - Uterine corpus endometrioid carcinoma (92;0.0877) GTGGGGAAAGCGGTCCCTGTA 0.537 38 80 --- --- --- --- PASS NCOR1 9611 broad.mit.edu 37 17 16068452 16068452 + Silent SNP A G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:16068452A>G uc002gpo.2 - 5 699 c.459T>C c.(457-459)CAT>CAC p.H153H NCOR1_uc002gpn.2_Silent_p.H153H|NCOR1_uc002gpp.1_Silent_p.H44H|NCOR1_uc002gpr.2_Silent_p.H44H|NCOR1_uc002gps.1_Silent_p.H153H|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Silent_p.H153H|NCOR1_uc010cpa.1_Silent_p.H153H|NCOR1_uc002gpu.2_Silent_p.H153H NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 153 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) ATGGAGCTTCATGTTTGCCTC 0.383 16 257 --- --- --- --- PASS CORO6 84940 broad.mit.edu 37 17 27944542 27944542 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:27944542C>G uc002hel.2 - 5 731 c.729G>C c.(727-729)CAG>CAC p.Q243H CORO6_uc002hem.2_Intron|CORO6_uc002hen.2_5'UTR NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 243 WD 4. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 CCAGCTCTCGCTGGCTCATGC 0.697 16 32 --- --- --- --- PASS TMEM132E 124842 broad.mit.edu 37 17 32955625 32955625 + Missense_Mutation SNP C G G rs79883914 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:32955625C>G uc002hif.2 + 4 1100 c.772C>G c.(772-774)CGG>GGG p.R258G NM_207313 NP_997196 Q6IEE7 T132E_HUMAN transmembrane protein 132E precursor 258 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(366;0.231) TACCAAGTCACGGAGTGGCCA 0.612 13 28 --- --- --- --- PASS EZH1 2145 broad.mit.edu 37 17 40861923 40861923 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:40861923G>T uc002iaz.2 - 13 1579 c.1434C>A c.(1432-1434)ATC>ATA p.I478I EZH1_uc002iba.2_Silent_p.I469I|EZH1_uc010wgt.1_Silent_p.I408I|EZH1_uc010wgu.1_Silent_p.I484I|EZH1_uc010wgv.1_Silent_p.I438I|EZH1_uc010wgw.1_Silent_p.I339I|EZH1_uc010cyp.2_Silent_p.I379I|EZH1_uc010cyq.2_Silent_p.I395I|EZH1_uc010cyo.1_Silent_p.I141I|EZH1_uc010cyr.1_Silent_p.I130I NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 478 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GCAGCTTCAGGATAAGTGATT 0.498 55 144 --- --- --- --- PASS FMNL1 752 broad.mit.edu 37 17 43320608 43320608 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:43320608G>T uc002iin.2 + 17 2334 c.2134G>T c.(2134-2136)GCC>TCC p.A712S FMNL1_uc002iiq.2_Missense_Mutation_p.A290S|FMNL1_uc010dag.2_RNA NM_005892 NP_005883 O95466 FMNL_HUMAN formin-like 1 712 FH2. actin cytoskeleton organization actin binding|Rho GTPase binding pancreas(1) 1 ACTCATTGAGGCCAACCGGGC 0.627 9 190 --- --- --- --- PASS ACSF2 80221 broad.mit.edu 37 17 48551024 48551024 + Splice_Site SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:48551024A>T uc002iqu.2 + 13 1580 c.1476_splice c.e13-2 p.G492_splice ACSF2_uc010wml.1_Splice_Site_p.G449_splice|ACSF2_uc010wmm.1_Splice_Site_p.G517_splice|ACSF2_uc010wmn.1_Splice_Site_p.G479_splice|ACSF2_uc010wmo.1_Splice_Site_p.G332_splice|ACSF2_uc010dbt.1_Splice_Site NM_025149 NP_079425 Q96CM8 ACSF2_HUMAN acyl-CoA synthetase family member 2 precursor fatty acid metabolic process mitochondrion ATP binding|ligase activity 0 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) CTTTCCTTACAGAGATGTCGC 0.423 136 153 --- --- --- --- PASS DGKE 8526 broad.mit.edu 37 17 54921412 54921412 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:54921412A>T uc002iur.2 + 3 677 c.497A>T c.(496-498)GAG>GTG p.E166V DGKE_uc002ius.1_Missense_Mutation_p.E166V NM_003647 NP_003638 P52429 DGKE_HUMAN diacylglycerol kinase epsilon 166 Phorbol-ester/DAG-type 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(2) 2 Breast(9;3.59e-07) GTACATGATGAGTGCATGAAA 0.323 18 83 --- --- --- --- PASS BCAS3 54828 broad.mit.edu 37 17 58945988 58945988 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:58945988G>C uc002iyv.3 + 8 637 c.528G>C c.(526-528)GAG>GAC p.E176D BCAS3_uc010wow.1_Intron|BCAS3_uc002iyu.3_Missense_Mutation_p.E176D|BCAS3_uc002iyw.3_Missense_Mutation_p.E172D NM_001099432 NP_001092902 Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 isoform 1 176 nucleus ovary(2)|central_nervous_system(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GTACTGGGGAGATGGTCAAGT 0.333 82 75 --- --- --- --- PASS SCN4A 6329 broad.mit.edu 37 17 62042025 62042025 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:62042025C>T uc002jds.1 - 9 1332 c.1255G>A c.(1255-1257)GCT>ACT p.A419T NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 419 I. muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GTCTTGCCAGCTGCTCGAAGG 0.567 9 41 --- --- --- --- PASS RHBDF2 79651 broad.mit.edu 37 17 74475058 74475058 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:74475058G>A uc002jrq.1 - 6 882 c.589C>T c.(589-591)CGC>TGC p.R197C RHBDF2_uc002jrp.1_Missense_Mutation_p.R168C|RHBDF2_uc002jrr.1_Missense_Mutation_p.R49C|RHBDF2_uc010wtf.1_Missense_Mutation_p.R168C|RHBDF2_uc002jrs.1_Missense_Mutation_p.R192C NM_024599 NP_078875 Q6PJF5 RHDF2_HUMAN rhomboid, veinlet-like 6 isoform 1 197 Cytoplasmic (Potential). negative regulation of protein secretion|protein transport|proteolysis endoplasmic reticulum membrane|integral to membrane growth factor binding|serine-type endopeptidase activity 0 TCCGGGTGGCGGAAGGCCCGG 0.682 24 42 --- --- --- --- PASS MXRA7 439921 broad.mit.edu 37 17 74681218 74681218 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:74681218C>A uc002jsk.1 - 3 464 c.436G>T c.(436-438)GGG>TGG p.G146W MXRA7_uc002jsl.2_Missense_Mutation_p.G146W|MXRA7_uc002jsm.2_Missense_Mutation_p.G146W NM_001008528 NP_001008528 P84157 MXRA7_HUMAN transmembrane anchor protein 1 isoform 1 146 integral to membrane 0 CTCAGCTTCCCGGGGCTGTAT 0.617 7 678 --- --- --- --- PASS BAIAP2 10458 broad.mit.edu 37 17 79082295 79082295 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:79082295G>A uc002jzg.2 + 13 1629 c.1521G>A c.(1519-1521)GCG>GCA p.A507A BAIAP2_uc002jyz.3_Silent_p.A507A|BAIAP2_uc002jza.2_Silent_p.A507A|BAIAP2_uc002jzc.2_Silent_p.A508A|BAIAP2_uc002jzb.2_Silent_p.A264A|BAIAP2_uc002jzd.2_Silent_p.A507A|BAIAP2_uc002jzf.2_Silent_p.A507A|BAIAP2_uc002jze.2_Silent_p.A540A|BAIAP2_uc010wuh.1_Silent_p.A429A|BAIAP2_uc002jzh.2_Silent_p.A508A|BAIAP2_uc010wui.1_Silent_p.A370A NM_017451 NP_059345 Q9UQB8 BAIP2_HUMAN BAI1-associated protein 2 isoform 2 507 axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding 0 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) ACTATGGAGCGCGGTCCATGA 0.652 23 145 --- --- --- --- PASS NDC80 10403 broad.mit.edu 37 18 2585114 2585114 + Silent SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr18:2585114A>T uc002kli.2 + 7 764 c.582A>T c.(580-582)ATA>ATT p.I194I NM_006101 NP_006092 O14777 NDC80_HUMAN kinetochore associated 2 194 Interaction with the N-terminus of CDCA1.|Nuclear localization.|Interaction with RB1. attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex protein binding ovary(1) 1 CTAATTAGATACATACTGCCA 0.338 46 119 --- --- --- --- PASS DSG1 1828 broad.mit.edu 37 18 28913574 28913574 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr18:28913574C>A uc002kwp.2 + 7 919 c.707C>A c.(706-708)GCT>GAT p.A236D NM_001942 NP_001933 Q02413 DSG1_HUMAN desmoglein 1 preproprotein 236 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding skin(3)|ovary(2)|central_nervous_system(2) 7 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TATGCTCTTGCTGTAAGAGGC 0.413 19 102 --- --- --- --- PASS ELANE 1991 broad.mit.edu 37 19 855689 855689 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:855689G>A uc002lqb.2 + 4 530 c.492G>A c.(490-492)GGG>GGA p.G164G NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 164 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGAACCGTGGGATCGCCAGCG 0.706 Kostmann_syndrome 42 138 --- --- --- --- PASS ATP8B3 148229 broad.mit.edu 37 19 1791762 1791762 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:1791762G>T uc002ltw.2 - 20 2523 c.2289C>A c.(2287-2289)ACC>ACA p.T763T ATP8B3_uc002ltv.2_Silent_p.T726T|ATP8B3_uc002ltx.2_RNA NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 763 Cytoplasmic (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTGTCCCCGGTGAGCACCC 0.512 3 47 --- --- --- --- PASS MATK 4145 broad.mit.edu 37 19 3778537 3778537 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:3778537G>C uc002lyt.2 - 13 1654 c.1254C>G c.(1252-1254)TTC>TTG p.F418L MATK_uc002lyv.2_Missense_Mutation_p.F419L|MATK_uc002lyu.2_Missense_Mutation_p.F377L|MATK_uc010dtq.2_Missense_Mutation_p.F417L NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 418 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GTCCATATGAGAAGACCTCCC 0.632 12 39 --- --- --- --- PASS FEM1A 55527 broad.mit.edu 37 19 4793666 4793666 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:4793666G>C uc002mbf.2 + 1 1939 c.1800G>C c.(1798-1800)CTG>CTC p.L600L uc002mbg.1_RNA NM_018708 NP_061178 Q9BSK4 FEM1A_HUMAN fem-1 homolog a 600 ANK 9. regulation of ubiquitin-protein ligase activity cytoplasm binding|ubiquitin-protein ligase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) TGAATGCCCTGATCGAAGCAG 0.612 26 80 --- --- --- --- PASS TMEM146 257062 broad.mit.edu 37 19 5778597 5778597 + Silent SNP C T T rs2305926 by1000genomes TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:5778597C>T uc002mda.2 + 22 2368 c.2307C>T c.(2305-2307)GTC>GTT p.V769V NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 769 Cytoplasmic (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 GCAAGACGGTCTGCCAGTTCA 0.652 53 137 --- --- --- --- PASS TUBB4 10382 broad.mit.edu 37 19 6495267 6495267 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:6495267T>A uc002mfg.1 - 4 1350 c.1243A>T c.(1243-1245)ATG>TTG p.M415L TUBB4_uc002mff.1_Missense_Mutation_p.M343L|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 415 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) AGGTCATTCATGTTGCTCTCG 0.632 92 356 --- --- --- --- PASS LDLR 3949 broad.mit.edu 37 19 11223989 11223989 + Missense_Mutation SNP G A A rs137943601 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:11223989G>A uc002mqk.3 + 9 1390 c.1222G>A c.(1222-1224)GAG>AAG p.E408K LDLR_uc010xlk.1_Missense_Mutation_p.E408K|LDLR_uc010xll.1_Missense_Mutation_p.E367K|LDLR_uc010xlm.1_Missense_Mutation_p.E261K|LDLR_uc010xln.1_Missense_Mutation_p.E281K|LDLR_uc010xlo.1_Missense_Mutation_p.E240K NM_000527 NP_000518 P01130 LDLR_HUMAN low density lipoprotein receptor precursor 408 LDL-receptor class B 1.|Extracellular (Potential). E -> K (may contribute to familial hypercholesterolemia; Algeria-1). cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity ovary(2)|skin(2) 4 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CAACCGGCACGAGGTCAGGAA 0.627 28 73 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13325317 13325317 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:13325317T>A uc010dze.2 - 39 6076 c.5840A>T c.(5839-5841)AAG>ATG p.K1947M CACNA1A_uc010xnd.1_Missense_Mutation_p.K652M|CACNA1A_uc002mwx.3_Missense_Mutation_p.K652M|CACNA1A_uc010dzc.2_Missense_Mutation_p.K1472M|CACNA1A_uc002mwy.3_Missense_Mutation_p.K1946M|CACNA1A_uc002mwv.3_Missense_Mutation_p.K463M NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1947 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) GCTCTTACACTTGTGAGGTGT 0.592 21 55 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13325326 13325326 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:13325326G>A uc010dze.2 - 39 6067 c.5831C>T c.(5830-5832)ACA>ATA p.T1944I CACNA1A_uc010xnd.1_Missense_Mutation_p.T649I|CACNA1A_uc002mwx.3_Missense_Mutation_p.T649I|CACNA1A_uc010dzc.2_Missense_Mutation_p.T1469I|CACNA1A_uc002mwy.3_Missense_Mutation_p.T1943I|CACNA1A_uc002mwv.3_Missense_Mutation_p.T460I NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1944 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTTGTGAGGTGTGACCAGCAG 0.602 19 55 --- --- --- --- PASS CYP4F2 8529 broad.mit.edu 37 19 16008362 16008362 + Silent SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:16008362C>A uc002nbs.1 - 2 110 c.60G>T c.(58-60)CTG>CTT p.L20L CYP4F2_uc010xot.1_Intron|CYP4F2_uc010xou.1_5'UTR NM_001082 NP_001073 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, 20 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding ovary(1)|skin(1) 2 GCAGGAGGAGCAGCCAAGGGG 0.662 12 35 --- --- --- --- PASS ANO8 57719 broad.mit.edu 37 19 17436171 17436171 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:17436171G>A uc002ngf.2 - 17 2845 c.2686C>T c.(2686-2688)CGC>TGC p.R896C ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 896 Extracellular (Potential). chloride channel complex chloride channel activity ovary(3) 3 TGCTGGTAGCGATGCTGGGCC 0.647 13 24 --- --- --- --- PASS MAP1S 55201 broad.mit.edu 37 19 17838969 17838969 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:17838969C>G uc002nhe.1 + 5 2785 c.2776C>G c.(2776-2778)CGA>GGA p.R926G MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Missense_Mutation_p.R174G|MAP1S_uc010xpv.1_Missense_Mutation_p.R900G NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 926 Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for association with microtubules. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 GACTGCCACTCGAGGCCCGTC 0.612 9 33 --- --- --- --- PASS SFRS14 10147 broad.mit.edu 37 19 19136416 19136416 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:19136416C>A uc002nkx.2 - 3 887 c.741G>T c.(739-741)TTG>TTT p.L247F SFRS14_uc002nkz.1_Missense_Mutation_p.L261F|SFRS14_uc002nla.1_Missense_Mutation_p.L247F|SFRS14_uc002nlb.2_Missense_Mutation_p.L247F|SFRS14_uc010xqk.1_Intron NM_014884 NP_055699 Q8IX01 SUGP2_HUMAN splicing factor, arginine/serine-rich 14 247 mRNA processing|RNA splicing nucleus RNA binding 0 OV - Ovarian serous cystadenocarcinoma(5;3.05e-05)|Epithelial(12;0.00161) TCACATTTCTCAATGTGACAA 0.478 5 387 --- --- --- --- PASS ATP13A1 57130 broad.mit.edu 37 19 19762502 19762502 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:19762502C>G uc002nnh.3 - 17 2359 c.2331G>C c.(2329-2331)GAG>GAC p.E777D ATP13A1_uc002nne.2_5'UTR|ATP13A1_uc002nnf.3_Missense_Mutation_p.E145D|ATP13A1_uc002nng.2_Missense_Mutation_p.E659D NM_020410 NP_065143 Q9HD20 AT131_HUMAN ATPase type 13A1 777 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(3)|large_intestine(2)|central_nervous_system(1) 6 CCTCACCTTTCTCGGAGGGAG 0.617 10 60 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36352134 36352134 + Silent SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:36352134G>T uc002ocb.3 + 9 1379 c.1167G>T c.(1165-1167)GCG>GCT p.A389A KIRREL2_uc002obz.3_Silent_p.A389A|KIRREL2_uc002oca.3_Silent_p.A339A|KIRREL2_uc002occ.3_Silent_p.A336A|KIRREL2_uc002ocd.3_Silent_p.A386A NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 389 Extracellular (Potential).|Ig-like C2-type 4. A -> V (in Ref. 1; AAP72167). cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCGGCGCCGCGGAGGCTCGGC 0.692 7 16 --- --- --- --- PASS KIRREL2 84063 broad.mit.edu 37 19 36352135 36352135 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:36352135G>A uc002ocb.3 + 9 1380 c.1168G>A c.(1168-1170)GAG>AAG p.E390K KIRREL2_uc002obz.3_Missense_Mutation_p.E390K|KIRREL2_uc002oca.3_Missense_Mutation_p.E340K|KIRREL2_uc002occ.3_Missense_Mutation_p.E337K|KIRREL2_uc002ocd.3_Missense_Mutation_p.E387K NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN kin of IRRE-like 2 isoform c 390 Extracellular (Potential).|Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CGGCGCCGCGGAGGCTCGGCT 0.687 8 16 --- --- --- --- PASS SIPA1L3 23094 broad.mit.edu 37 19 38610161 38610161 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:38610161C>A uc002ohk.2 + 9 3016 c.2507C>A c.(2506-2508)ACC>AAC p.T836N NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 836 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GTCTCCAACACCCCCATCGAC 0.582 19 77 --- --- --- --- PASS GSK3A 2931 broad.mit.edu 37 19 42738600 42738600 + Missense_Mutation SNP A C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:42738600A>C uc002otb.1 - 6 928 c.809T>G c.(808-810)TTG>TGG p.L270W GSK3A_uc002ota.1_Missense_Mutation_p.L188W|GSK3A_uc002otc.2_RNA NM_019884 NP_063937 P49840 GSK3A_HUMAN glycogen synthase kinase 3 alpha 270 Protein kinase. insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of insulin receptor signaling pathway|negative regulation of transferase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process beta-catenin destruction complex|cytosol ATP binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity ovary(2)|lung(2) 4 Prostate(69;0.00682) CCCTCGGACCAACTGCTTTGC 0.602 58 136 --- --- --- --- PASS PSG5 5673 broad.mit.edu 37 19 43690529 43690529 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:43690529G>T uc002ovu.2 - 1 160 c.29C>A c.(28-30)ACA>AAA p.T10K PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_5'Flank|PSG5_uc002ovx.2_Missense_Mutation_p.T10K|PSG5_uc002ovv.2_Missense_Mutation_p.T10K|PSG5_uc002ovw.2_Missense_Mutation_p.T10K NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 10 female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) GATGTGCTGTGTGCAGGGAGG 0.597 83 237 --- --- --- --- PASS TRAPPC6A 79090 broad.mit.edu 37 19 45667444 45667444 + Missense_Mutation SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:45667444T>A uc002paw.2 - 4 351 c.332A>T c.(331-333)CAG>CTG p.Q111L TRAPPC6A_uc002pav.2_Missense_Mutation_p.Q125L O75865 TPC6A_HUMAN SubName: Full=TRAPPC6Adelta29-42; SubName: Full=Trafficking protein particle complex 6A, isoform CRA_a; 111 SFPLLLPMASGLQYLEEAPKFLAFT -> KLSPPPPDGLWP AVSGGSTQVPGLH (in Ref. 1; AAF28967). vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding 0 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00872)|GBM - Glioblastoma multiforme(486;0.233) CTCCAGATACTGCAGGCCAGA 0.647 9 18 --- --- --- --- PASS MARK4 57787 broad.mit.edu 37 19 45797675 45797675 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:45797675G>T uc002pbb.1 + 14 1568 c.1563G>T c.(1561-1563)GAG>GAT p.E521D MARK4_uc002pba.1_Missense_Mutation_p.E521D Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 521 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) CGGGGGCTGAGCGCCCGTCAC 0.592 12 42 --- --- --- --- PASS PLA2G4C 8605 broad.mit.edu 37 19 48571079 48571079 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:48571079C>A uc002phx.2 - 13 1469 c.1071G>T c.(1069-1071)TGG>TGT p.W357C PLA2G4C_uc002phw.2_Missense_Mutation_p.W292C|PLA2G4C_uc010elr.2_Missense_Mutation_p.W357C|PLA2G4C_uc010xzd.1_Missense_Mutation_p.W367C NM_003706 NP_003697 Q9UP65 PA24C_HUMAN phospholipase A2, group IVC isoform 1 precursor 357 PLA2c. arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition cytosol|membrane calcium-independent phospholipase A2 activity|phospholipid binding ovary(1)|skin(1) 2 all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717) GAGTGGTCCCCCATTCCCACT 0.527 7 838 --- --- --- --- PASS NTF4 4909 broad.mit.edu 37 19 49564643 49564643 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:49564643G>C uc002pmf.3 - 2 753 c.612C>G c.(610-612)CTC>CTG p.L204L CGB7_uc010yah.1_Intron NM_006179 NP_006170 P34130 NTF4_HUMAN neurotrophin 5 preproprotein 204 adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification endoplasmic reticulum lumen|extracellular region growth factor activity 0 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) CAGTCCGGCTGAGGAGTGTGC 0.602 3 57 --- --- --- --- PASS NAPSA 9476 broad.mit.edu 37 19 50865269 50865269 + Silent SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:50865269G>C uc002prx.2 - 3 359 c.306C>G c.(304-306)CTC>CTG p.L102L NR1H2_uc002prv.3_Intron NM_004851 NP_004842 O96009 NAPSA_HUMAN napsin A preproprotein 102 proteolysis extracellular region aspartic-type endopeptidase activity 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183) ACGGGACCCAGAGATTGGAGG 0.542 10 24 --- --- --- --- PASS MIR1283-1 100302265 broad.mit.edu 37 19 54191795 54191795 + RNA SNP T A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:54191795T>A hsa-mir-1283-1|MI0003832 + c.61T>A MIR520A_hsa-mir-520a|MI0003149_5'Flank 0 AGAAAGCGCTTCCCTTTTGAG 0.423 50 128 --- --- --- --- PASS NLRP7 199713 broad.mit.edu 37 19 55450741 55450741 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:55450741C>T uc002qih.3 - 4 1522 c.1446G>A c.(1444-1446)CTG>CTA p.L482L NLRP7_uc002qig.3_Silent_p.L482L|NLRP7_uc002qii.3_Silent_p.L482L|NLRP7_uc010esk.2_Silent_p.L482L|NLRP7_uc010esl.2_Silent_p.L510L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 482 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) CCTCCTTCTCCAGGGCGTAGA 0.592 42 138 --- --- --- --- PASS PTPRH 5794 broad.mit.edu 37 19 55708542 55708542 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:55708542C>T uc002qjq.2 - 9 2006 c.1933G>A c.(1933-1935)GTG>ATG p.V645M PTPRH_uc010esv.2_Missense_Mutation_p.V467M|PTPRH_uc002qjs.2_Missense_Mutation_p.V652M NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 645 Extracellular (Potential).|Fibronectin type-III 7. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TCTGCCCACACGGTGAAATTG 0.557 33 103 --- --- --- --- PASS TMEM190 147744 broad.mit.edu 37 19 55889435 55889435 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:55889435G>C uc002qkt.1 + 5 416 c.398G>C c.(397-399)CGA>CCA p.R133P NM_139172 NP_631911 Q8WZ59 TM190_HUMAN transmembrane protein 190 precursor 133 Cytoplasmic (Potential). integral to membrane 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) TCCAAGCACCGAGGGACCAAG 0.522 22 58 --- --- --- --- PASS NLRP5 126206 broad.mit.edu 37 19 56539869 56539869 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:56539869C>A uc002qmj.2 + 7 2270 c.2270C>A c.(2269-2271)CCT>CAT p.P757H NLRP5_uc002qmi.2_Missense_Mutation_p.P738H NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 757 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) CCTGTGGTCCCTCTATGGTGA 0.527 178 599 --- --- --- --- PASS ZNF773 374928 broad.mit.edu 37 19 58018583 58018583 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:58018583C>G uc002qox.2 + 4 1260 c.1120C>G c.(1120-1122)CTC>GTC p.L374V ZNF547_uc002qpm.3_Intron|ZNF773_uc002qoy.2_Missense_Mutation_p.L373V|ZNF773_uc002qoz.2_Intron NM_198542 NP_940944 Q6PK81 ZN773_HUMAN zinc finger protein 773 374 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) AAGCTCAAGCCTCATGCAACA 0.418 122 453 --- --- --- --- PASS C19orf18 147685 broad.mit.edu 37 19 58470001 58470001 + Missense_Mutation SNP G A A rs139357251 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:58470001G>A uc002qqv.2 - 6 721 c.617C>T c.(616-618)GCG>GTG p.A206V NM_152474 NP_689687 Q8NEA5 CS018_HUMAN hypothetical protein LOC147685 precursor 206 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) ATTATGTGACGCATTCTTTGT 0.403 13 62 --- --- --- --- PASS ZNF446 55663 broad.mit.edu 37 19 58991801 58991801 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:58991801A>T uc002qsz.2 + 7 1178 c.1061A>T c.(1060-1062)CAC>CTC p.H354L ZNF446_uc002qta.2_Missense_Mutation_p.T326S|ZNF446_uc010eur.2_3'UTR|SLC27A5_uc002qtb.2_RNA NM_017908 NP_060378 Q9NWS9 ZN446_HUMAN zinc finger protein 446 354 C2H2-type 1. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) CACCGGACACACACGAGTGGG 0.667 11 44 --- --- --- --- PASS SLC27A5 10998 broad.mit.edu 37 19 59011000 59011000 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr19:59011000C>T uc002qtc.2 - 7 1636 c.1526G>A c.(1525-1527)CGC>CAC p.R509H SLC27A5_uc002qtb.2_5'Flank NM_012254 NP_036386 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid 509 Cytoplasmic (Probable). bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity 0 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) TCGGGGGCCGCGGTAGCCCAC 0.657 51 195 --- --- --- --- PASS C20orf26 26074 broad.mit.edu 37 20 20278922 20278922 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr20:20278922G>T uc002wru.2 + 25 3390 c.3314G>T c.(3313-3315)AGG>ATG p.R1105M C20orf26_uc002wrw.2_RNA NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 1105 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) TGCCTTTCTAGGGAGCCCTTC 0.478 29 91 --- --- --- --- PASS XKR7 343702 broad.mit.edu 37 20 30584385 30584385 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr20:30584385G>A uc002wxe.2 + 3 1039 c.865G>A c.(865-867)GAC>AAC p.D289N NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN XK, Kell blood group complex subunit-related 289 integral to membrane ovary(1)|breast(1)|skin(1) 3 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GGACTCGCGGGACGACAAGCG 0.701 14 33 --- --- --- --- PASS TRPC4AP 26133 broad.mit.edu 37 20 33623037 33623037 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr20:33623037C>A uc002xbk.2 - 8 974 c.940G>T c.(940-942)GGC>TGC p.G314C TRPC4AP_uc010zuq.1_5'UTR|TRPC4AP_uc002xbl.2_Missense_Mutation_p.G314C|TRPC4AP_uc010zur.1_Missense_Mutation_p.G275C|TRPC4AP_uc002xbm.1_Missense_Mutation_p.G314C NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a 314 Interaction with TNFRSF1A (By similarity). protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) CTGGCTGTGCCCGTTGACTCT 0.542 56 160 --- --- --- --- PASS B4GALT5 9334 broad.mit.edu 37 20 48330202 48330202 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr20:48330202C>A uc002xuu.3 - 1 220 c.26G>T c.(25-27)CGG>CTG p.R9L NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 9 Cytoplasmic (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) GCGCGGCAGCCGCAGCAGCCC 0.647 2 0 --- --- --- --- PASS CHODL 140578 broad.mit.edu 37 21 19635169 19635169 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr21:19635169G>A uc002ykv.2 + 5 1087 c.696G>A c.(694-696)CTG>CTA p.L232L CHODL_uc002ykr.2_Silent_p.L191L|CHODL_uc002yks.2_Silent_p.L191L|CHODL_uc002ykt.2_Intron|CHODL_uc002yku.2_Intron NM_024944 NP_079220 Q9H9P2 CHODL_HUMAN chondrolectin precursor 232 Helical; (Potential). muscle organ development integral to membrane|perinuclear region of cytoplasm sugar binding upper_aerodigestive_tract(1) 1 all_epithelial(11;0.21) Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917) TACTGATACTGGTTGCTTTTG 0.313 32 128 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22782636 22782636 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr21:22782636G>T uc002yld.1 + 10 1487 c.1238G>T c.(1237-1239)TGG>TTG p.W413L NCAM2_uc011acb.1_Missense_Mutation_p.W271L NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 413 Ig-like C2-type 5.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) TATTACTCTTGGGAAGGAAAT 0.299 13 64 --- --- --- --- PASS NCAM2 4685 broad.mit.edu 37 21 22782637 22782637 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr21:22782637G>T uc002yld.1 + 10 1488 c.1239G>T c.(1237-1239)TGG>TGT p.W413C NCAM2_uc011acb.1_Missense_Mutation_p.W271C NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 413 Ig-like C2-type 5.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATTACTCTTGGGAAGGAAATC 0.299 14 64 --- --- --- --- PASS MTMR3 8897 broad.mit.edu 37 22 30416442 30416442 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:30416442C>A uc003agv.3 + 17 3122 c.2794C>A c.(2794-2796)CCA>ACA p.P932T MTMR3_uc003agu.3_Missense_Mutation_p.P932T|MTMR3_uc003agw.3_Missense_Mutation_p.P932T NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 932 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) CAATGGTGCCCCAGAGACTGA 0.582 5 214 --- --- --- --- PASS INPP5J 27124 broad.mit.edu 37 22 31524495 31524495 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:31524495T>C uc003aju.3 + 9 2140 c.2048T>C c.(2047-2049)CTA>CCA p.L683P INPP5J_uc003ajv.3_Missense_Mutation_p.L316P|INPP5J_uc003ajs.3_Missense_Mutation_p.L316P|INPP5J_uc011alk.1_Missense_Mutation_p.L616P|INPP5J_uc010gwg.2_Missense_Mutation_p.L248P|INPP5J_uc003ajw.2_Missense_Mutation_p.L119P|INPP5J_uc003ajt.3_Missense_Mutation_p.L315P|INPP5J_uc003ajx.2_Missense_Mutation_p.L48P|INPP5J_uc003ajy.2_Missense_Mutation_p.L48P|INPP5J_uc003ajz.2_Missense_Mutation_p.L123P NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 683 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 GACCGTATCCTATGGAAGGTC 0.597 22 49 --- --- --- --- PASS INPP5J 27124 broad.mit.edu 37 22 31524595 31524595 + Silent SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:31524595C>T uc003aju.3 + 9 2240 c.2148C>T c.(2146-2148)TAC>TAT p.Y716Y INPP5J_uc003ajv.3_Silent_p.Y349Y|INPP5J_uc003ajs.3_Silent_p.Y349Y|INPP5J_uc011alk.1_Silent_p.Y649Y|INPP5J_uc010gwg.2_Silent_p.Y281Y|INPP5J_uc003ajw.2_Silent_p.Y152Y|INPP5J_uc003ajt.3_Silent_p.Y348Y|INPP5J_uc003ajx.2_Silent_p.Y81Y|INPP5J_uc003ajy.2_Silent_p.Y81Y|INPP5J_uc003ajz.2_Silent_p.Y156Y NM_001002837 NP_001002837 Q15735 PI5PA_HUMAN phosphatidylinositol (4,5) bisphosphate 716 Catalytic (Potential). cytoplasm|ruffle inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding skin(1) 1 ACATGGAATACACAGTCAGCG 0.617 18 91 --- --- --- --- PASS C22orf42 150297 broad.mit.edu 37 22 32545743 32545743 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:32545743G>T uc003amd.2 - 8 720 c.679C>A c.(679-681)CTC>ATC p.L227I NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 227 ovary(1)|skin(1) 2 taCTTACAGAGGTAATCTTCA 0.249 7 34 --- --- --- --- PASS ISX 91464 broad.mit.edu 37 22 35463085 35463085 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:35463085G>T uc003anj.2 + 1 956 c.5G>T c.(4-6)TGT>TTT p.C2F ISX_uc011amg.1_5'UTR NM_001008494 NP_001008494 Q2M1V0 ISX_HUMAN intestine-specific homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2) 5 CCCTCAATGTGTGCTGAGGTG 0.617 21 66 --- --- --- --- PASS MYH9 4627 broad.mit.edu 37 22 36737470 36737470 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:36737470C>G uc003apg.2 - 3 666 c.435G>C c.(433-435)GAG>GAC p.E145D MYH9_uc003aph.1_Missense_Mutation_p.E9D|MYH9_uc003api.1_Missense_Mutation_p.E145D NM_002473 NP_002464 P35579 MYH9_HUMAN myosin, heavy polypeptide 9, non-muscle 145 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1) 11 GAGGGGGCATCTCGTGCCTCT 0.517 T ALK ALCL Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome Hereditary_Macrothrombocytopenia_MYH9-associated 79 210 --- --- --- --- PASS TMPRSS6 164656 broad.mit.edu 37 22 37482458 37482458 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:37482458C>T uc003aqs.1 - 8 979 c.865G>A c.(865-867)GTG>ATG p.V289M TMPRSS6_uc003aqt.1_Missense_Mutation_p.V280M|TMPRSS6_uc003aqu.2_Missense_Mutation_p.V280M NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 289 CUB 1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 CAGCCGTACACCCTGGCAGAA 0.552 3 3 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38121544 38121544 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:38121544C>A uc003atr.2 + 7 3252 c.2981C>A c.(2980-2982)CCT>CAT p.P994H TRIOBP_uc003atu.2_Missense_Mutation_p.P822H|TRIOBP_uc003atq.1_Missense_Mutation_p.P994H|TRIOBP_uc003ats.1_Missense_Mutation_p.P822H NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 994 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACTTCCTCACCTGTGTACCCC 0.647 5 531 --- --- --- --- PASS EP300 2033 broad.mit.edu 37 22 41574090 41574090 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:41574090C>A uc003azl.3 + 31 6770 c.6375C>A c.(6373-6375)CAC>CAA p.H2125Q NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 2125 Interaction with HTLV-1 Tax.|Interaction with NCOA2. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 AGGGGGTCCACTCCAATCCAG 0.627 T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 22 88 --- --- --- --- PASS PACSIN2 11252 broad.mit.edu 37 22 43308058 43308058 + Missense_Mutation SNP C T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:43308058C>T uc010gzg.2 - 2 251 c.29G>A c.(28-30)GGA>GAA p.G10E PACSIN2_uc003bdg.3_Missense_Mutation_p.G10E|PACSIN2_uc003bde.3_Missense_Mutation_p.G10E|PACSIN2_uc003bdf.3_Missense_Mutation_p.G10E NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 10 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) CACTTCTACTCCAACGGAATC 0.473 28 130 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 44004396 44004396 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:44004396G>A uc003bdy.1 - 22 2862 c.2647C>T c.(2647-2649)CTC>TTC p.L883F EFCAB6_uc003bdz.1_Missense_Mutation_p.L731F|EFCAB6_uc010gzi.1_Missense_Mutation_p.L731F|EFCAB6_uc010gzj.1_Intron NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 883 EF-hand 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) CTTGGTGTGAGGGGAATATCA 0.448 26 90 --- --- --- --- PASS TBC1D22A 25771 broad.mit.edu 37 22 47189457 47189457 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:47189457C>G uc003bib.2 + 3 314 c.179C>G c.(178-180)ACC>AGC p.T60S TBC1D22A_uc010haf.2_Missense_Mutation_p.T30S|TBC1D22A_uc003bic.2_Missense_Mutation_p.T60S|TBC1D22A_uc003bie.2_Missense_Mutation_p.T41S|TBC1D22A_uc003bid.2_RNA|TBC1D22A_uc010hag.2_RNA|TBC1D22A_uc003bif.2_Missense_Mutation_p.T13S NM_014346 NP_055161 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 60 intracellular protein homodimerization activity|Rab GTPase activator activity ovary(1) 1 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) AGGGTCAGCACCTTCCAGGAG 0.592 33 126 --- --- --- --- PASS LMF2 91289 broad.mit.edu 37 22 50942847 50942847 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr22:50942847T>C uc003blp.2 - 12 1671 c.1640A>G c.(1639-1641)TAT>TGT p.Y547C LMF2_uc010hba.2_Missense_Mutation_p.Y369C|LMF2_uc003blo.2_Missense_Mutation_p.Y522C NM_033200 NP_149977 Q9BU23 LMF2_HUMAN lipase maturation factor 2 547 endoplasmic reticulum membrane|integral to membrane breast(1) 1 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GTGGAAGGGATACCTGGCCAC 0.547 7 36 --- --- --- --- PASS GYG2 8908 broad.mit.edu 37 X 2778075 2778075 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:2778075C>A uc004cqs.1 + 8 1181 c.899C>A c.(898-900)GCG>GAG p.A300E GYG2_uc004cqt.1_Missense_Mutation_p.A269E|GYG2_uc004cqu.1_Missense_Mutation_p.A269E|GYG2_uc004cqv.1_Missense_Mutation_p.A114E|GYG2_uc004cqw.1_Missense_Mutation_p.A260E|GYG2_uc004cqx.1_Missense_Mutation_p.A269E|GYG2_uc010ndc.1_Missense_Mutation_p.A114E NM_003918 NP_003909 O15488 GLYG2_HUMAN glycogenin 2 isoform b 300 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|soluble fraction glycogenin glucosyltransferase activity ovary(1)|kidney(1) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) AGCGTCCAAGCGGGGGAAGCA 0.577 6 7 --- --- --- --- PASS VCX3B 425054 broad.mit.edu 37 X 8433594 8433594 + Splice_Site SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:8433594G>T uc010ndo.2 + 2 409 c.102_splice c.e2+1 p.K34_splice VCX3B_uc011mht.1_Splice_Site_p.K34_splice|VCX3B_uc004csd.1_Splice_Site_p.K34_splice NM_001001888 NP_001001888 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B nucleolus 0 GAAGAAGAAGGTGAGTGACCC 0.637 4 155 --- --- --- --- PASS BEND2 139105 broad.mit.edu 37 X 18195717 18195717 + Silent SNP G T T rs149324488 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:18195717G>T uc004cyj.3 - 10 1756 c.1602C>A c.(1600-1602)CTC>CTA p.L534L BEND2_uc010nfb.2_Silent_p.L443L NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 534 BEN 1. ovary(3)|kidney(1)|central_nervous_system(1) 5 TGTTCGGGTCGAGGGATTGGC 0.388 174 212 --- --- --- --- PASS IL1RAPL1 11141 broad.mit.edu 37 X 29973457 29973457 + Silent SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:29973457T>C uc004dby.2 + 11 2119 c.1611T>C c.(1609-1611)ATT>ATC p.I537I NM_014271 NP_055086 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 537 Cytoplasmic (Potential).|TIR. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity ovary(3)|lung(1)|pancreas(1) 5 TGACGGTCATTAAATGGCATG 0.413 25 39 --- --- --- --- PASS DDX3X 1654 broad.mit.edu 37 X 41201857 41201857 + Missense_Mutation SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:41201857G>A uc004dfe.2 + 5 1249 c.394G>A c.(394-396)GAT>AAT p.D132N DDX3X_uc010nhf.1_Missense_Mutation_p.D116N|DDX3X_uc004dff.2_Missense_Mutation_p.D132N|DDX3X_uc011mkq.1_Missense_Mutation_p.D116N|DDX3X_uc011mkr.1_Missense_Mutation_p.D132N|DDX3X_uc011mks.1_Intron|DDX3X_uc004dfg.2_RNA|DDX3X_uc011mkt.1_RNA NM_001356 NP_001347 O00571 DDX3X_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3 132 interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 TGACAAATCAGATGAAGATGA 0.453 HNSCC(61;0.18) 56 55 --- --- --- --- PASS ITIH5L 347365 broad.mit.edu 37 X 54776340 54776340 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:54776340G>A uc004dtj.2 - 13 3960 c.3930C>T c.(3928-3930)TCC>TCT p.S1310S NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 1310 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 ACAGGACATAGGAGAGGTAGG 0.592 10 16 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64748148 64748148 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:64748148G>A uc004dwa.1 - 7 1020 c.948C>T c.(946-948)TGC>TGT p.C316C LAS1L_uc004dwc.1_Silent_p.C316C|LAS1L_uc004dwd.1_Silent_p.C274C NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 316 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 ACCTGTTCTCGCATGTAACGC 0.498 OREG0019826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 --- --- --- --- PASS LPAR4 2846 broad.mit.edu 37 X 78010794 78010794 + Missense_Mutation SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:78010794C>A uc010nme.2 + 2 833 c.428C>A c.(427-429)CCT>CAT p.P143H NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 143 Cytoplasmic (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 ATTGTCTATCCTTTTCGATCT 0.463 59 71 --- --- --- --- PASS GPR174 84636 broad.mit.edu 37 X 78426664 78426664 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:78426664G>T uc004edg.1 + 1 196 c.160G>T c.(160-162)GCT>TCT p.A54S NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 54 Helical; Name=2; (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 AACAAAACGAGCTGTGATATT 0.383 HNSCC(63;0.18) 5 14 --- --- --- --- PASS GPR174 84636 broad.mit.edu 37 X 78427455 78427455 + Missense_Mutation SNP A T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:78427455A>T uc004edg.1 + 1 987 c.951A>T c.(949-951)AAA>AAT p.K317N NM_032553 NP_115942 Q9BXC1 GP174_HUMAN putative purinergic receptor FKSG79 317 Cytoplasmic (Potential). integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1)|central_nervous_system(1) 2 TCCATGCAAAATCCTTTGTGA 0.393 HNSCC(63;0.18) 44 47 --- --- --- --- PASS ITM2A 9452 broad.mit.edu 37 X 78622693 78622693 + Missense_Mutation SNP T C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:78622693T>C uc004edh.2 - 1 355 c.20A>G c.(19-21)AAT>AGT p.N7S ITM2A_uc011mqr.1_Missense_Mutation_p.N7S NM_004867 NP_004858 O43736 ITM2A_HUMAN integral membrane protein 2A 7 integral to membrane protein binding lung(2) 2 GGTAGGGGTATTGAAGGCGAT 0.592 14 8 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128574 83128574 + Silent SNP G A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:83128574G>A uc004eei.1 + 4 879 c.858G>A c.(856-858)AAG>AAA p.K286K CYLC1_uc004eeh.1_Silent_p.K285K NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 286 1. cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 ATACAAAGAAGGACACAAAAA 0.303 18 16 --- --- --- --- PASS ARMCX6 54470 broad.mit.edu 37 X 100871326 100871326 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:100871326G>T uc004ehx.2 - 3 630 c.285C>A c.(283-285)AAC>AAA p.N95K ARMCX6_uc004ehy.2_Missense_Mutation_p.N95K NM_019007 NP_061880 Q7L4S7 ARMX6_HUMAN armadillo repeat containing, X-linked 6 95 integral to membrane 0 GGTGTGCTCGGTTGGCCTTGC 0.532 96 135 --- --- --- --- PASS BEX1 55859 broad.mit.edu 37 X 102318111 102318111 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:102318111C>G uc004ejt.1 - 3 332 c.92G>C c.(91-93)GGG>GCG p.G31A NM_018476 NP_060946 Q9HBH7 BEX1_HUMAN brain expressed, X-linked 1 31 cell differentiation|nervous system development cytoplasm|nucleus ovary(1) 1 CAAGGGCTCCCCTTTATTAGC 0.488 260 302 --- --- --- --- PASS KIAA1210 57481 broad.mit.edu 37 X 118215378 118215378 + Missense_Mutation SNP G T T TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:118215378G>T uc004era.3 - 14 5044 c.5044C>A c.(5044-5046)CCA>ACA p.P1682T NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1682 ovary(4)|skin(1) 5 GGCTCAACTGGGTTCTGGAAC 0.478 125 118 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122319751 122319751 + Missense_Mutation SNP C G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:122319751C>G uc004etq.3 + 3 470 c.177C>G c.(175-177)AAC>AAG p.N59K GRIA3_uc004etr.3_Missense_Mutation_p.N59K|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.N43K|GRIA3_uc010nqs.1_Missense_Mutation_p.N59K NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 59 Extracellular (Potential). glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 L-Glutamic Acid(DB00142) AGTTATACAACACCAACCAGA 0.458 55 67 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122757717 122757717 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:122757717G>C uc004etu.2 - 28 3456 c.3424C>G c.(3424-3426)CAA>GAA p.Q1142E THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_5'Flank NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1142 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 TCCAAAGCTTGACCCAGATTC 0.363 54 63 --- --- --- --- PASS ATP2B3 492 broad.mit.edu 37 X 152814999 152814999 + Silent SNP C T T rs140403057 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrX:152814999C>T uc004fht.1 + 9 1509 c.1383C>T c.(1381-1383)TGC>TGT p.C461C ATP2B3_uc004fhs.1_Silent_p.C461C NM_001001344 NP_001001344 Q16720 AT2B3_HUMAN plasma membrane calcium ATPase 3 isoform 3b 461 Cytoplasmic (Potential). ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding pancreas(1) 1 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGGATGCCTGCGAGACCATGG 0.592 5 224 --- --- --- --- PASS DDX3Y 8653 broad.mit.edu 37 Y 15023843 15023843 + Missense_Mutation SNP G C C TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrY:15023843G>C uc004fsu.1 + 5 553 c.244G>C c.(244-246)GGT>CGT p.G82R DDX3Y_uc010nwv.1_Missense_Mutation_p.G82R|DDX3Y_uc011naq.1_Missense_Mutation_p.G82R|DDX3Y_uc004fsv.2_Missense_Mutation_p.G82R|DDX3Y_uc010nww.1_Intron|DDX3Y_uc011nar.1_Missense_Mutation_p.G79R NM_001122665 NP_001116137 O15523 DDX3Y_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, 82 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding 0 AGGAAAGCCTGGTTATTTCAG 0.383 85 99 --- --- --- --- PASS KDM5D 8284 broad.mit.edu 37 Y 21894629 21894629 + Splice_Site SNP C A A TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chrY:21894629C>A uc004fug.2 - 9 1222 c.934_splice c.e9-1 p.I312_splice KDM5D_uc011naz.1_Splice_Site_p.I312_splice|KDM5D_uc010nwy.2_Splice_Site_p.I255_splice|KDM5D_uc011nba.1_Splice_Site_p.I312_splice|KDM5D_uc004fuh.2_Splice_Site_p.I267_splice NM_004653 NP_004644 Q9BY66 KDM5D_HUMAN jumonji, AT rich interactive domain 1D isoform chromatin modification|spermatogenesis nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding skin(1) 1 Vitamin C(DB00126) ATGAGTCAATCTACCAAAAAA 0.363 6 13 --- --- --- --- PASS GUCY1B3 2983 broad.mit.edu 37 4 156721094 156721094 + Frame_Shift_Del DEL C - - TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr4:156721094delC uc003ipc.2 + 9 1210 c.1043delC c.(1042-1044)GCCfs p.A348fs GUCY1B3_uc011cio.1_Frame_Shift_Del_p.A370fs|GUCY1B3_uc011cip.1_Frame_Shift_Del_p.A328fs|GUCY1B3_uc003ipd.2_Frame_Shift_Del_p.A276fs|GUCY1B3_uc010iqf.2_Frame_Shift_Del_p.A348fs|GUCY1B3_uc010iqg.2_Frame_Shift_Del_p.A276fs|GUCY1B3_uc011ciq.1_Frame_Shift_Del_p.A276fs NM_000857 NP_000848 Q02153 GCYB1_HUMAN guanylate cyclase 1, soluble, beta 3 348 blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation guanylate cyclase complex, soluble|intracellular membrane-bounded organelle GTP binding|guanylate cyclase activity|receptor activity 0 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.148) CTGCATGATGCCACGCGCGAT 0.458 81 48 --- --- --- --- KRTAP5-5 439915 broad.mit.edu 37 11 1651191 1651199 + In_Frame_Del DEL GGCTGTGGA - - rs144216147 TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 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 21 13 --- --- --- --- KIF2B 84643 broad.mit.edu 37 17 51902235 51902236 + Frame_Shift_Ins INS - G G TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr17:51902235_51902236insG uc002iua.2 + 1 1997_1998 c.1841_1842insG c.(1840-1842)AAGfs p.K614fs uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 614 blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 ATTTCAGGGAAGGGATCTAGCC 0.426 216 102 --- --- --- --- ZNF397 84307 broad.mit.edu 37 18 32825471 32825474 + Frame_Shift_Del DEL CTAA - - TCGA-22-4595-01A-01D-1267-08 TCGA-22-4595-11A-01D-1267-08 Somatic Phase_I Capture Illumina GAIIx 7fcf5123-2d1b-4666-9d39-a1aaf63cf954 850e8a4d-e0f6-4bd6-80f5-1c20e2b0e4f9 g.chr18:32825471_32825474delCTAA uc010dmp.2 + 4 958_961 c.802_805delCTAA c.(802-807)CTAACTfs p.L268fs ZNF397_uc010dmq.2_Intron|ZNF397_uc010dmr.2_Intron|ZNF397_uc002kyj.2_Intron NM_001135178 NP_001128650 Q8NF99 ZN397_HUMAN zinc finger protein 397 isoform 1 268_269 viral reproduction cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 ATGCTTGATTCTAACTACAGACTC 0.417 3 3 --- --- --- ---