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 KIF1B 23095 broad.mit.edu 37 1 10425653 10425653 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:10425653G>A uc001aqx.3 + 43 4901 c.4699G>A c.(4699-4701)GAT>AAT p.D1567N KIF1B_uc001aqw.3_Missense_Mutation_p.D1521N|KIF1B_uc001aqy.2_Missense_Mutation_p.D1541N|KIF1B_uc001aqz.2_Missense_Mutation_p.D1567N|KIF1B_uc001ara.2_Missense_Mutation_p.D1527N|KIF1B_uc001arb.2_Missense_Mutation_p.D1553N NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 1567 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) CAGTGGCTATGATTCAGGAGA 0.542 59 66 --- --- --- --- PASS C1orf64 149563 broad.mit.edu 37 1 16332706 16332706 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:16332706C>T uc001axn.2 + 2 443 c.375C>T c.(373-375)AGC>AGT p.S125S NM_178840 NP_849162 Q8NEQ6 CA064_HUMAN hypothetical protein LOC149563 125 breast(2) 2 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) TCCCAGTCAGCCCGCTCTGCC 0.642 29 31 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21031124 21031124 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:21031124C>T uc001bdr.3 - 5 1057 c.939G>A c.(937-939)TCG>TCA p.S313S KIF17_uc001bds.3_Silent_p.S313S NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 313 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) TGTCCGCAGGCGACAGGCAGG 0.622 22 53 --- --- --- --- PASS HMGCL 3155 broad.mit.edu 37 1 24144041 24144041 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:24144041C>A uc001bib.2 - 3 221 c.177G>T c.(175-177)CTG>CTT p.L59L HMGCL_uc010oec.1_Silent_p.L59L|HMGCL_uc009vqr.2_Intron|HMGCL_uc001bic.2_Silent_p.L34L|HMGCL_uc009vqs.1_Silent_p.L59L|HMGCL_uc001bid.1_Silent_p.L59L NM_000191 NP_000182 P35914 HMGCL_HUMAN 3-hydroxy-3-methylglutaryl CoA lyase isoform 1 59 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1) 1 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) GCATGTCTATCAGCTTGATTT 0.448 45 46 --- --- --- --- PASS C1orf172 126695 broad.mit.edu 37 1 27277975 27277975 + Silent SNP G A A rs142079202 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:27277975G>A uc001bni.1 - 2 986 c.897C>T c.(895-897)CGC>CGT p.R299R NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 299 large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GAATGATGCCGCGTACCAGGC 0.602 17 23 --- --- --- --- PASS S100PBP 64766 broad.mit.edu 37 1 33292386 33292386 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:33292386C>T uc001bvz.2 + 3 963 c.686C>T c.(685-687)CCT>CTT p.P229L S100PBP_uc001bwa.1_Missense_Mutation_p.P229L|S100PBP_uc001bwb.1_Missense_Mutation_p.P229L|S100PBP_uc001bwc.2_Missense_Mutation_p.P229L|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 229 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) AAAAATATGCCTGACAGTGAG 0.448 44 52 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34158654 34158654 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:34158654C>T uc001bxn.1 - 25 3837 c.3808G>A c.(3808-3810)GAG>AAG p.E1270K CSMD2_uc001bxm.1_Missense_Mutation_p.E1310K|CSMD2_uc001bxo.1_Missense_Mutation_p.E183K NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 1270 Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCTCCACACTCGGCTGAAAGA 0.557 90 105 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34190206 34190206 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:34190206C>T uc001bxn.1 - 18 2704 c.2675G>A c.(2674-2676)AGC>AAC p.S892N CSMD2_uc001bxm.1_Missense_Mutation_p.S932N NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 892 Sushi 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGAGTCACAGCTGAAGGTCAC 0.572 33 38 --- --- --- --- PASS CSMD2 114784 broad.mit.edu 37 1 34190229 34190229 + Nonsense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:34190229G>C uc001bxn.1 - 18 2681 c.2652C>G c.(2650-2652)TAC>TAG p.Y884* CSMD2_uc001bxm.1_Nonsense_Mutation_p.Y924* NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 884 Sushi 5.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCGCGCCCACGTAGAAGTCAT 0.572 36 38 --- --- --- --- PASS COL8A2 1296 broad.mit.edu 37 1 36564304 36564304 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:36564304G>C uc001bzv.1 - 2 985 c.978C>G c.(976-978)GAC>GAG p.D326E COL8A2_uc001bzw.1_Missense_Mutation_p.D261E NM_005202 NP_005193 P25067 CO8A2_HUMAN collagen, type VIII, alpha 2 precursor 326 Triple-helical region. angiogenesis|cell-cell adhesion|extracellular matrix organization basement membrane|collagen extracellular matrix structural constituent|protein binding, bridging central_nervous_system(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CTGGGCCCCTGTCCCCCTTGG 0.726 11 13 --- --- --- --- PASS PTPRF 5792 broad.mit.edu 37 1 44069850 44069850 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:44069850G>T uc001cjr.2 + 16 3367 c.3027G>T c.(3025-3027)CCG>CCT p.P1009P PTPRF_uc001cjs.2_Silent_p.P1000P|PTPRF_uc001cju.2_Intron|PTPRF_uc009vwt.2_Silent_p.P569P|PTPRF_uc001cjv.2_Silent_p.P469P|PTPRF_uc001cjw.2_Silent_p.P235P NM_002840 NP_002831 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1009 Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(4)|skin(3)|lung(1)|kidney(1)|central_nervous_system(1) 10 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GGACCATGCCGGTGGAGCAAG 0.622 39 28 --- --- --- --- PASS NSUN4 387338 broad.mit.edu 37 1 46812705 46812705 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:46812705C>T uc001cpr.1 + 3 659 c.550C>T c.(550-552)CCT>TCT p.P184S NSUN4_uc010omc.1_Missense_Mutation_p.P135S|NSUN4_uc009vyf.1_Intron|NSUN4_uc009vyg.1_Missense_Mutation_p.P135S|NSUN4_uc001cpt.1_RNA|NSUN4_uc001cps.1_RNA NM_199044 NP_950245 Q96CB9 NSUN4_HUMAN NOL1/NOP2/Sun domain family 4 protein 184 S-adenosyl-L-methionine binding (By similarity). methyltransferase activity 0 Acute lymphoblastic leukemia(166;0.155) ATGTGCAGCTCCTGGGGGAAA 0.597 42 41 --- --- --- --- PASS TNNI3K 51086 broad.mit.edu 37 1 74832987 74832987 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:74832987G>T uc001dgf.1 + 12 1276 c.1225G>T c.(1225-1227)GAT>TAT p.D409Y TNNI3K_uc001dgc.1_Missense_Mutation_p.D510Y|TNNI3K_uc001dgd.2_Missense_Mutation_p.D510Y|TNNI3K_uc001dge.1_Missense_Mutation_p.D510Y NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 409 ANK 10. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 GAGACCACAAGATGAATTGCC 0.348 60 75 --- --- --- --- PASS C1orf173 127254 broad.mit.edu 37 1 75072431 75072431 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:75072431T>C uc001dgg.2 - 10 1562 c.1343A>G c.(1342-1344)AAC>AGC p.N448S uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.N242S NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 448 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 AGAGGTTTTGTTCTCCTTGAT 0.408 4 238 --- --- --- --- PASS SAMD13 148418 broad.mit.edu 37 1 84791382 84791382 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:84791382A>G uc001djr.2 + 3 350 c.158A>G c.(157-159)TAT>TGT p.Y53C SAMD13_uc010orw.1_Missense_Mutation_p.Y39C|SAMD13_uc010orx.1_Missense_Mutation_p.Y39C NM_001010971 NP_001010971 Q5VXD3 SAM13_HUMAN sterile alpha motif domain containing 13 isoform 59 SAM. 0 all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136) GTCGTCAATTATTTCCGAACC 0.473 38 37 --- --- --- --- PASS HFM1 164045 broad.mit.edu 37 1 91844640 91844640 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:91844640G>T uc001doa.3 - 9 1238 c.1138C>A c.(1138-1140)CAT>AAT p.H380N HFM1_uc010osu.1_Missense_Mutation_p.H59N|HFM1_uc010osv.1_Missense_Mutation_p.H64N|HFM1_uc001doc.1_Missense_Mutation_p.H380N NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 380 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ATAATAATATGGGCATGCTGA 0.279 31 31 --- --- --- --- PASS LPPR4 9890 broad.mit.edu 37 1 99771997 99771997 + Nonsense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:99771997C>T uc001dse.2 + 7 1829 c.1723C>T c.(1723-1725)CGA>TGA p.R575* LPPR4_uc010oue.1_Nonsense_Mutation_p.R517* NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 575 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) CAGCCAGCCCCGAATCATGCA 0.552 39 41 --- --- --- --- PASS FRRS1 391059 broad.mit.edu 37 1 100185123 100185123 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:100185123C>A uc001dsh.1 - 10 1689 c.1087G>T c.(1087-1089)GGA>TGA p.G363* NM_001013660 NP_001013682 Q6ZNA5 FRRS1_HUMAN stromal cell derived factor receptor 2 homolog 363 Cytochrome b561. electron transport chain|transport integral to membrane ferric-chelate reductase activity|metal ion binding skin(1) 1 all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201) Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206) GAATGGGATCCTCCTATGTTC 0.398 67 70 --- --- --- --- PASS CHIA 27159 broad.mit.edu 37 1 111854968 111854968 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:111854968G>T uc001eas.2 + 4 315 c.212G>T c.(211-213)TGG>TTG p.W71L CHIA_uc001ear.2_Intron|CHIA_uc001eaq.2_Intron|CHIA_uc009wgc.2_Intron|CHIA_uc001eat.2_Intron|CHIA_uc001eav.2_Intron|CHIA_uc001eau.2_Intron|CHIA_uc009wgd.2_Intron NM_201653 NP_970615 Q9BZP6 CHIA_HUMAN acidic chitinase isoform c 71 Chitooligosaccharide binding (Probable). apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding ovary(1) 1 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) ACCATCGAATGGAATGATGTG 0.483 71 68 --- --- --- --- PASS HSD3B1 3283 broad.mit.edu 37 1 120054257 120054257 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:120054257C>A uc001ehv.1 + 3 422 c.277C>A c.(277-279)CAC>AAC p.H93N HSD3B1_uc001ehw.2_Missense_Mutation_p.H95N NM_000862 NP_000853 P14060 3BHS1_HUMAN 3 beta-hydroxysteroid dehydrogenase 1 93 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CGGTGTCACTCACAGAGAGTC 0.507 37 50 --- --- --- --- PASS PDE4DIP 9659 broad.mit.edu 37 1 144856920 144856920 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:144856920C>T uc001elw.3 - 40 6856 c.6565G>A c.(6565-6567)GCC>ACC p.A2189T NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.A2083T|PDE4DIP_uc001elv.3_Missense_Mutation_p.A1196T NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 2189 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TGTCTTAGGGCACTGTAGTCA 0.527 T PDGFRB MPD 21 66 --- --- --- --- PASS SEMA6C 10500 broad.mit.edu 37 1 151105867 151105867 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:151105867C>G uc001ewu.2 - 19 2186 c.1886G>C c.(1885-1887)TGT>TCT p.C629S SEMA6C_uc001ewv.2_Missense_Mutation_p.C661S|SEMA6C_uc001eww.2_Missense_Mutation_p.C621S|SEMA6C_uc010pcq.1_Intron NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 629 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GGCGCGGCGACAAGCACAGGA 0.716 24 14 --- --- --- --- PASS LELP1 149018 broad.mit.edu 37 1 153177230 153177230 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:153177230C>G uc001fbl.2 + 2 157 c.47C>G c.(46-48)CCC>CGC p.P16R NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN late cornified envelope-like proline-rich 1 16 ovary(1) 1 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AAGACTGAGCCCAAGAACTGC 0.448 151 150 --- --- --- --- PASS S100A3 6274 broad.mit.edu 37 1 153520929 153520929 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:153520929G>A uc001fca.1 - 2 116 c.33C>T c.(31-33)GCC>GCT p.A11A S100A4_uc001fby.2_5'Flank|S100A4_uc001fbz.2_5'Flank|uc009wog.1_RNA NM_002960 NP_002951 P33764 S10A3_HUMAN S100 calcium binding protein A3 11 calcium ion binding|protein binding 0 all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) TGCACACGATGGCAGCTACCG 0.622 185 179 --- --- --- --- PASS OR6Y1 391112 broad.mit.edu 37 1 158517052 158517052 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:158517052G>T uc010pil.1 - 1 844 c.844C>A c.(844-846)CTC>ATC p.L282I NM_001005189 NP_001005189 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, 282 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) ACAGTGTAGAGAACAGATACC 0.453 27 289 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158590027 158590027 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:158590027C>A uc001fst.1 - 44 6549 c.6350G>T c.(6349-6351)AGC>ATC p.S2117I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 2117 Spectrin 20. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GGTATAAGGGCTGGAAGGCAC 0.507 62 178 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158609675 158609675 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:158609675C>A uc001fst.1 - 34 5059 c.4860G>T c.(4858-4860)GAG>GAT p.E1620D NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1620 Spectrin 16. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) AGAGCCAGAACTCAAAGTCCC 0.438 76 270 --- --- --- --- PASS SPTA1 6708 broad.mit.edu 37 1 158612629 158612629 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:158612629G>T uc001fst.1 - 32 4779 c.4580C>A c.(4579-4581)TCC>TAC p.S1527Y NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1527 Spectrin 15. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) GTCTTTGTAGGATTCATCACA 0.443 75 241 --- --- --- --- PASS PYHIN1 149628 broad.mit.edu 37 1 158906870 158906870 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:158906870C>T uc001ftb.2 + 2 415 c.170C>T c.(169-171)CCA>CTA p.P57L PYHIN1_uc001fta.3_Missense_Mutation_p.P57L|PYHIN1_uc001ftc.2_Missense_Mutation_p.P57L|PYHIN1_uc001ftd.2_Missense_Mutation_p.P57L|PYHIN1_uc001fte.2_Missense_Mutation_p.P57L NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 57 DAPIN. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) GAAAAGTTCCCAGGTGATGCC 0.348 89 96 --- --- --- --- PASS FCGR2B 2213 broad.mit.edu 37 1 161642908 161642908 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:161642908C>A uc001gaz.1 + 4 627 c.535C>A c.(535-537)CCC>ACC p.P179T FCGR2B_uc009wum.1_Missense_Mutation_p.P179T|FCGR2B_uc001gay.1_Missense_Mutation_p.P178T|FCGR2B_uc001gba.1_Missense_Mutation_p.P178T|FCGR2B_uc001gbb.1_Missense_Mutation_p.P179T|FCGR2B_uc009wun.1_Missense_Mutation_p.P172T NM_004001 NP_003992 P31994 FCG2B_HUMAN Fc fragment of IgG, low affinity IIb, receptor 179 Ig-like C2-type 2.|Extracellular (Potential). immune response|interspecies interaction between organisms|regulation of immune response integral to membrane|plasma membrane IgG binding|receptor activity 0 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CCGTTCGGATCCCAACTTCTC 0.493 T ? ALL 16 77 --- --- --- --- PASS DNM3 26052 broad.mit.edu 37 1 172007553 172007553 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:172007553A>G uc001gie.2 + 7 1120 c.944A>G c.(943-945)AAA>AGA p.K315R DNM3_uc001gid.3_Missense_Mutation_p.K315R|DNM3_uc009wwb.2_Missense_Mutation_p.K315R|DNM3_uc001gif.2_Missense_Mutation_p.K315R NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 315 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 GAAGCCTACAAAAATTTCAAA 0.418 156 143 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176659333 176659333 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:176659333A>G uc001gkz.2 + 5 3362 c.2198A>G c.(2197-2199)CAT>CGT p.H733R PAPPA2_uc001gky.1_Missense_Mutation_p.H733R|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 733 Metalloprotease. Zinc; catalytic (By similarity). cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 ACCATGATCCATGAAGTGGGA 0.483 160 158 --- --- --- --- PASS PAPPA2 60676 broad.mit.edu 37 1 176671778 176671778 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:176671778T>A uc001gkz.2 + 9 4436 c.3272T>A c.(3271-3273)GTT>GAT p.V1091D PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 1091 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 CAGTACCAAGTTCTAGCTGAA 0.512 70 58 --- --- --- --- PASS GLT25D2 23127 broad.mit.edu 37 1 183942789 183942789 + Silent SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:183942789C>G uc001gqr.2 - 4 960 c.588G>C c.(586-588)CGG>CGC p.R196R GLT25D2_uc010poj.1_Silent_p.R196R|GLT25D2_uc001gqs.2_Silent_p.R76R NM_015101 NP_055916 Q8IYK4 GT252_HUMAN glycosyltransferase 25 domain containing 2 196 lipopolysaccharide biosynthetic process endoplasmic reticulum lumen procollagen galactosyltransferase activity ovary(1)|breast(1) 2 AATACAGGCCCCGAGACTCCA 0.438 49 344 --- --- --- --- PASS FAM129A 116496 broad.mit.edu 37 1 184859326 184859326 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:184859326G>T uc001gra.2 - 4 543 c.349C>A c.(349-351)CGA>AGA p.R117R FAM129A_uc009wyh.1_Intron|FAM129A_uc009wyi.1_Intron NM_052966 NP_443198 Q9BZQ8 NIBAN_HUMAN niban protein isoform 2 117 negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress cytoplasm|nucleus|plasma membrane ovary(3)|skin(1) 4 GGAAGAATTCGACATTTAGGA 0.448 28 85 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196448338 196448338 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:196448338T>A uc001gtd.1 - 5 415 c.355A>T c.(355-357)ACA>TCA p.T119S KCNT2_uc001gte.1_Missense_Mutation_p.T119S|KCNT2_uc001gtf.1_Missense_Mutation_p.T119S|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.T119S|KCNT2_uc009wyv.1_Missense_Mutation_p.T119S NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 119 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AGTAATATTGTTTCAAACAGA 0.284 13 126 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197030958 197030958 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:197030958A>T uc001gtt.1 - 3 451 c.407T>A c.(406-408)CTC>CAC p.L136H NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 136 Sushi 2. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 TCCATCAGAGAGACATTGAAC 0.373 33 128 --- --- --- --- PASS F13B 2165 broad.mit.edu 37 1 197030959 197030959 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:197030959G>A uc001gtt.1 - 3 450 c.406C>T c.(406-408)CTC>TTC p.L136F NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 136 Sushi 2. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CCATCAGAGAGACATTGAACC 0.373 33 131 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197390734 197390734 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:197390734C>G uc001gtz.2 + 6 1911 c.1776C>G c.(1774-1776)ATC>ATG p.I592M CRB1_uc010poz.1_Missense_Mutation_p.I523M|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.I480M|CRB1_uc010ppb.1_Missense_Mutation_p.I592M|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.I73M|CRB1_uc001gub.1_Missense_Mutation_p.I241M NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 592 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AGAAATGCATCGCGAAAGCTC 0.468 60 206 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197407761 197407761 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:197407761G>T uc001gtz.2 + 10 3969 c.3834G>T c.(3832-3834)CAG>CAT p.Q1278H CRB1_uc010poz.1_Missense_Mutation_p.Q1254H|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.Q1166H|CRB1_uc010ppb.1_Missense_Mutation_p.Q742H|CRB1_uc010ppd.1_Missense_Mutation_p.Q759H|CRB1_uc001gub.1_Missense_Mutation_p.Q927H NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1278 Extracellular (Potential).|EGF-like 18. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 CAGAGTTCCAGACTGAATTAA 0.433 86 102 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216219889 216219889 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:216219889G>T uc001hku.1 - 32 6596 c.6209C>A c.(6208-6210)TCT>TAT p.S2070Y NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2070 Extracellular (Potential).|Fibronectin type-III 7. 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) GAGCAGCAAAGAACTGGGAAG 0.423 HNSCC(13;0.011) 67 86 --- --- --- --- PASS PSEN2 5664 broad.mit.edu 37 1 227079483 227079483 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:227079483C>T uc009xeo.1 + 11 1437 c.1010C>T c.(1009-1011)CCC>CTC p.P337L PSEN2_uc009xep.1_Missense_Mutation_p.P336L|PSEN2_uc001hqk.2_RNA NM_000447 NP_000438 P49810 PSN2_HUMAN presenilin 2 isoform 1 337 Cytoplasmic (Potential). amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding lung(2) 2 Prostate(94;0.0771) CCTTCATACCCCGAAGTCTTT 0.552 44 102 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237550610 237550610 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:237550610C>T uc001hyl.1 + 9 726 c.606C>T c.(604-606)CAC>CAT p.H202H NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 202 Cytoplasmic (By similarity).|MIR 2. 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) GCAGCTTACACGTGGATGCCG 0.512 35 123 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237604660 237604660 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:237604660G>C uc001hyl.1 + 13 1167 c.1047G>C c.(1045-1047)ATG>ATC p.M349I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 349 Cytoplasmic (By similarity). 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) TAGATGGCATGGGAACATCTG 0.403 46 121 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237804280 237804280 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:237804280G>T uc001hyl.1 + 47 7319 c.7199G>T c.(7198-7200)GGA>GTA p.G2400V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2400 Cytoplasmic (By similarity).|4 X approximate repeats. 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) GACCTCTTGGGACGCTGTGCT 0.453 20 31 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237872795 237872795 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:237872795G>C uc001hyl.1 + 70 10278 c.10158G>C c.(10156-10158)AAG>AAC p.K3386N RYR2_uc010pxz.1_Missense_Mutation_p.K341N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 3386 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) AGTGGCTAAAGGAGCCTAACC 0.403 15 37 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 240966240 240966240 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:240966240G>T uc001hyv.2 - 16 1653 c.1323C>A c.(1321-1323)TCC>TCA p.S441S RGS7_uc010pyh.1_Silent_p.S415S|RGS7_uc010pyj.1_Silent_p.S357S|RGS7_uc001hyu.2_Silent_p.S441S|RGS7_uc009xgn.1_Silent_p.S388S|RGS7_uc001hyw.2_Silent_p.S441S|RGS7_uc001hyt.2_Silent_p.S273S NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 441 RGS. 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) GATAGGCACTGGATCTTATAA 0.348 78 208 --- --- --- --- PASS WDR64 128025 broad.mit.edu 37 1 241929537 241929537 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:241929537A>G uc001hzf.1 + 10 1248 c.1095A>G c.(1093-1095)TTA>TTG p.L365L WDR64_uc001hzg.1_Silent_p.L111L NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 645 WD 9. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) CCATGGATTTATTACGAGTGA 0.368 69 108 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248004961 248004961 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:248004961G>A uc001idn.1 - 1 238 c.238C>T c.(238-240)CTT>TTT p.L80F NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GCTAGGAGAAGGGGCACAGTG 0.592 23 36 --- --- --- --- PASS OR11L1 391189 broad.mit.edu 37 1 248005047 248005047 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:248005047T>G uc001idn.1 - 1 152 c.152A>C c.(151-153)CAG>CCG p.Q51P NM_001001959 NP_001001959 Q8NGX0 O11L1_HUMAN olfactory receptor, family 11, subfamily L, 51 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCGCAGGCCCTGGCTCACCAC 0.532 16 51 --- --- --- --- PASS TRIM58 25893 broad.mit.edu 37 1 248023976 248023976 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:248023976C>A uc001ido.2 + 2 526 c.478C>A c.(478-480)CAG>AAG p.Q160K NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 160 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CGCCTTGACTCAGGAGGCCAA 0.488 34 45 --- --- --- --- PASS OR2T8 343172 broad.mit.edu 37 1 248085122 248085122 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:248085122A>T uc010pzc.1 + 1 803 c.803A>T c.(802-804)CAC>CTC p.H268L NM_001005522 NP_001005522 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, 268 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCACTAACCACGACAAGGTT 0.493 97 142 --- --- --- --- PASS OR2L8 391190 broad.mit.edu 37 1 248112396 248112396 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:248112396G>T uc001idt.1 + 1 237 c.237G>T c.(235-237)AAG>AAT p.K79N OR2L13_uc001ids.2_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN olfactory receptor, family 2, subfamily L, 79 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) TTGTTCCTAAGATGGCATCTG 0.448 9 645 --- --- --- --- PASS OR2G6 391211 broad.mit.edu 37 1 248685795 248685795 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr1:248685795C>A uc001ien.1 + 1 848 c.848C>A c.(847-849)CCA>CAA p.P283Q NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ATAGTCACCCCACTTTTAAAC 0.438 56 117 --- --- --- --- PASS KCNS3 3790 broad.mit.edu 37 2 18112791 18112791 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:18112791G>T uc002rcv.2 + 3 967 c.516G>T c.(514-516)TGG>TGT p.W172C KCNS3_uc002rcw.2_Missense_Mutation_p.W172C NM_002252 NP_002243 Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel 172 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity ovary(4) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) AGAAAATCTGGATTAGAATGG 0.507 27 50 --- --- --- --- PASS APOB 338 broad.mit.edu 37 2 21230128 21230128 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:21230128A>T uc002red.2 - 26 9740 c.9612T>A c.(9610-9612)TTT>TTA p.F3204L NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3204 Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) AATGCCTGTCAAAGGATTTGA 0.318 23 106 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24930139 24930139 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:24930139C>G uc002rfk.2 + 11 2058 c.1800C>G c.(1798-1800)AAC>AAG p.N600K NCOA1_uc010eye.2_Missense_Mutation_p.N600K|NCOA1_uc002rfi.2_Missense_Mutation_p.N449K|NCOA1_uc002rfj.2_Missense_Mutation_p.N600K|NCOA1_uc002rfl.2_Missense_Mutation_p.N600K NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 600 Ser-rich. PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATCTGACAACAGCTCTAGTG 0.378 T PAX3 alveolar rhadomyosarcoma 38 90 --- --- --- --- PASS NCOA1 8648 broad.mit.edu 37 2 24974895 24974895 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:24974895C>A uc002rfk.2 + 18 4009 c.3751C>A c.(3751-3753)CCT>ACT p.P1251T NCOA1_uc010eye.2_Missense_Mutation_p.P1251T|NCOA1_uc002rfi.2_Missense_Mutation_p.P1100T|NCOA1_uc002rfj.2_Missense_Mutation_p.P1251T|NCOA1_uc002rfl.2_Missense_Mutation_p.P1251T|NCOA1_uc010eyf.2_Missense_Mutation_p.P144T NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1251 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTCTAAGCCCTGGGAGCTC 0.473 T PAX3 alveolar rhadomyosarcoma 57 123 --- --- --- --- PASS FAM179A 165186 broad.mit.edu 37 2 29222153 29222153 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:29222153G>C uc010ezl.2 + 4 597 c.246G>C c.(244-246)AAG>AAC p.K82N FAM179A_uc010ymm.1_Missense_Mutation_p.K82N NM_199280 NP_954974 Q6ZUX3 F179A_HUMAN hypothetical protein LOC165186 82 binding ovary(3)|skin(1) 4 CCCCTTCCAAGGGCTGGCAGG 0.632 11 34 --- --- --- --- PASS ALK 238 broad.mit.edu 37 2 29754882 29754882 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:29754882C>A uc002rmy.2 - 4 1960 c.1053G>T c.(1051-1053)GTG>GTT p.V351V NM_004304 NP_004295 Q9UM73 ALK_HUMAN anaplastic lymphoma kinase precursor 351 MAM 1.|Extracellular (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity NPM1/ALK(632)|EML4/ALK(246)|CLTC/ALK(44)|TPM3/ALK(33)|ATIC/ALK(24)|RANBP2/ALK(16)|TPM4/ALK(12)|TFG/ALK(7)|MSN/ALK(6)|CARS/ALK(5)|VCL/ALK(4)|KIF5B/ALK(4)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|SQSTM1/ALK(2) haematopoietic_and_lymphoid_tissue(726)|lung(262)|autonomic_ganglia(148)|soft_tissue(61)|breast(4)|kidney(4)|large_intestine(3)|skin(3)|ovary(3)|thyroid(2)|central_nervous_system(1)|pancreas(1) 1218 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGTGCCTGTGCACCGAGACGG 0.597 T|Mis|A NPM1|TPM3|TFG|TPM4|ATIC|CLTC|MSN|ALO17|CARS|EML4 ALCL|NSCLC|Neuroblastoma neuroblastoma Neuroblastoma_Familial_Clustering_of|Congenital_Central_Hypoventilation_Syndrome 52 94 --- --- --- --- PASS SLC8A1 6546 broad.mit.edu 37 2 40656957 40656957 + Missense_Mutation SNP T C C rs34034084 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:40656957T>C uc002rrx.2 - 1 488 c.464A>G c.(463-465)GAA>GGA p.E155G SLC8A1_uc002rry.2_Missense_Mutation_p.E155G|SLC8A1_uc002rrz.2_Missense_Mutation_p.E155G|SLC8A1_uc002rsa.2_Missense_Mutation_p.E155G|SLC8A1_uc002rsd.3_Missense_Mutation_p.E155G|SLC8A1_uc002rsb.1_Missense_Mutation_p.E155G|SLC8A1_uc010fan.1_Missense_Mutation_p.E155G|SLC8A1_uc002rsc.1_Missense_Mutation_p.E155G NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 155 Helical; (Potential).|Alpha-1. cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) GCCACACACTTCAATTACTGA 0.458 6 130 --- --- --- --- PASS PLEKHH2 130271 broad.mit.edu 37 2 43871901 43871901 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:43871901A>G uc010yny.1 + 2 172 c.89A>G c.(88-90)CAA>CGA p.Q30R PLEKHH2_uc002rte.3_Missense_Mutation_p.Q30R|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q30R NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H 30 Potential. cytoplasm|cytoskeleton|integral to membrane binding skin(2)|central_nervous_system(1) 3 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TTTAGAGTTCAAGCAAGCAAG 0.393 28 86 --- --- --- --- PASS PREPL 9581 broad.mit.edu 37 2 44573523 44573523 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:44573523G>T uc002ruf.2 - 2 261 c.226C>A c.(226-228)CAG>AAG p.Q76K PREPL_uc002rug.2_Missense_Mutation_p.Q76K|PREPL_uc002ruh.2_Missense_Mutation_p.Q76K|PREPL_uc010fax.2_Missense_Mutation_p.Q76K|PREPL_uc002rui.3_5'UTR|PREPL_uc002ruj.1_5'UTR|PREPL_uc002ruk.1_Missense_Mutation_p.Q76K NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 76 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTAACAGGCTGAAGATCCTGG 0.318 4 175 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71740931 71740931 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:71740931G>T uc002sie.2 + 6 919 c.543G>T c.(541-543)GGG>GGT p.G181G DYSF_uc010feg.2_Silent_p.G212G|DYSF_uc010feh.2_Silent_p.G181G|DYSF_uc002sig.3_Silent_p.G181G|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.G181G|DYSF_uc010fef.2_Silent_p.G212G|DYSF_uc010fei.2_Silent_p.G212G|DYSF_uc010fek.2_Silent_p.G213G|DYSF_uc010fej.2_Silent_p.G182G|DYSF_uc010fel.2_Silent_p.G182G|DYSF_uc010feo.2_Silent_p.G213G|DYSF_uc010fem.2_Silent_p.G182G|DYSF_uc010fen.2_Silent_p.G213G|DYSF_uc002sif.2_Silent_p.G182G NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 181 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GAGGCCCGGGGGCTCCCACCA 0.592 34 64 --- --- --- --- PASS DYSF 8291 broad.mit.edu 37 2 71795349 71795349 + Silent SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:71795349G>C uc002sie.2 + 26 3067 c.2691G>C c.(2689-2691)ACG>ACC p.T897T DYSF_uc010feg.2_Silent_p.T928T|DYSF_uc010feh.2_Silent_p.T883T|DYSF_uc002sig.3_Silent_p.T883T|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Silent_p.T897T|DYSF_uc010fef.2_Silent_p.T914T|DYSF_uc010fei.2_Silent_p.T914T|DYSF_uc010fek.2_Silent_p.T915T|DYSF_uc010fej.2_Silent_p.T884T|DYSF_uc010fel.2_Silent_p.T884T|DYSF_uc010feo.2_Silent_p.T929T|DYSF_uc010fem.2_Silent_p.T898T|DYSF_uc010fen.2_Silent_p.T915T|DYSF_uc002sif.2_Silent_p.T898T NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 897 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GGGGCACAACGGGCCTCACCT 0.607 136 310 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77745694 77745694 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:77745694A>T uc002snr.2 - 3 1716 c.1301T>A c.(1300-1302)CTC>CAC p.L434H LRRTM4_uc002snq.2_Missense_Mutation_p.L434H|LRRTM4_uc002sns.2_Missense_Mutation_p.L434H|LRRTM4_uc002snt.2_Missense_Mutation_p.L435H NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 434 Helical; (Potential). integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) GGCCACTGAGAGAAAGAGAGC 0.502 39 84 --- --- --- --- PASS LRRTM4 80059 broad.mit.edu 37 2 77746911 77746911 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:77746911C>A uc002snr.2 - 3 499 c.84G>T c.(82-84)ACG>ACT p.T28T LRRTM4_uc002snq.2_Silent_p.T28T|LRRTM4_uc002sns.2_Silent_p.T28T|LRRTM4_uc002snt.2_Silent_p.T29T NM_001134745 NP_001128217 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 28 integral to membrane pancreas(3)|ovary(1) 4 Colorectal(11;0.059) TCTGAGCACCCGTGAGCATAA 0.448 19 56 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 79971682 79971682 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:79971682C>A uc010ysh.1 + 2 277 c.272C>A c.(271-273)GCT>GAT p.A91D CTNNA2_uc010yse.1_Missense_Mutation_p.A91D|CTNNA2_uc010ysf.1_Missense_Mutation_p.A91D|CTNNA2_uc010ysg.1_Missense_Mutation_p.A91D NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 91 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 GAGTTGGTGGCTGCTGTAGAG 0.433 20 51 --- --- --- --- PASS CTNNA2 1496 broad.mit.edu 37 2 80136740 80136740 + Silent SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:80136740C>G uc010ysh.1 + 6 878 c.873C>G c.(871-873)CCC>CCG p.P291P CTNNA2_uc010yse.1_Silent_p.P291P|CTNNA2_uc010ysf.1_Silent_p.P291P|CTNNA2_uc010ysg.1_Silent_p.P291P NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 291 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 TCCTGGACCCCATGACGTTCA 0.552 47 112 --- --- --- --- PASS ANKRD36B 57730 broad.mit.edu 37 2 98177143 98177143 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:98177143G>T uc010yvc.1 - 8 1130 c.850C>A c.(850-852)CCT>ACT p.P284T ANKRD36B_uc010yve.1_RNA|ANKRD36B_uc010fif.2_RNA NM_025190 NP_079466 Q8N2N9 AN36B_HUMAN ankyrin repeat domain 36B 284 0 CCAGATATAGGTCCCTCCTTT 0.313 41 133 --- --- --- --- PASS IL1R1 3554 broad.mit.edu 37 2 102791159 102791159 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:102791159G>T uc002tbq.2 + 10 1422 c.1104G>T c.(1102-1104)AGG>AGT p.R368S IL1R1_uc010fix.2_Missense_Mutation_p.R368S|IL1R1_uc002tbp.2_Missense_Mutation_p.R368S|IL1R1_uc002tbr.2_Missense_Mutation_p.R368S NM_000877 NP_000868 P14778 IL1R1_HUMAN interleukin 1 receptor, type I precursor 368 Cytoplasmic (Potential). innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding skin(1) 1 Anakinra(DB00026) TTTGGTACAGGGATTCCTGCT 0.348 4 165 --- --- --- --- PASS CCDC138 165055 broad.mit.edu 37 2 109411052 109411052 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:109411052G>T uc002ten.1 + 5 511 c.451G>T c.(451-453)GCA>TCA p.A151S CCDC138_uc002teo.1_Missense_Mutation_p.A151S|CCDC138_uc002tep.1_5'UTR|CCDC138_uc010fjm.1_5'UTR NM_144978 NP_659415 Q96M89 CC138_HUMAN coiled-coil domain containing 138 151 0 TTGTAGTGATGCAGGTGACTC 0.393 64 101 --- --- --- --- PASS BUB1 699 broad.mit.edu 37 2 111425421 111425421 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:111425421T>A uc002tgc.2 - 7 685 c.573A>T c.(571-573)TCA>TCT p.S191S BUB1_uc010yxh.1_Silent_p.S171S|BUB1_uc010fkb.2_Silent_p.S191S|BUB1_uc002tgd.2_Silent_p.S191S NM_004336 NP_004327 O43683 BUB1_HUMAN budding uninhibited by benzimidazoles 1 191 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|breast(2)|stomach(1)|ovary(1)|kidney(1) 7 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) CAGAAAGCTCTGAACCCTAAA 0.338 82 177 --- --- --- --- PASS PTPN4 5775 broad.mit.edu 37 2 120720314 120720314 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:120720314C>T uc002tmf.1 + 24 3174 c.2403C>T c.(2401-2403)AAC>AAT p.N801N PTPN4_uc010flj.1_Silent_p.N514N|PTPN4_uc010yyr.1_Silent_p.N434N NM_002830 NP_002821 P29074 PTN4_HUMAN protein tyrosine phosphatase, non-receptor type 801 Tyrosine-protein phosphatase. cytoplasm|cytoskeleton|internal side of plasma membrane cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity ovary(2) 2 Alendronate(DB00630) CCCTATTTAACCAAGAGGTAA 0.413 16 102 --- --- --- --- PASS GLI2 2736 broad.mit.edu 37 2 121746735 121746735 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:121746735C>G uc010flp.2 + 13 3275 c.3245C>G c.(3244-3246)ACC>AGC p.T1082S GLI2_uc002tmq.1_Missense_Mutation_p.T754S|GLI2_uc002tmr.1_Missense_Mutation_p.T737S|GLI2_uc002tmt.3_Missense_Mutation_p.T754S|GLI2_uc002tmu.3_Missense_Mutation_p.T737S NM_005270 NP_005261 P10070 GLI2_HUMAN GLI-Kruppel family member GLI2 1082 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|lung(2)|breast(1)|central_nervous_system(1)|pancreas(1) 13 Renal(3;0.0496) Prostate(154;0.0623) GACGAGGGCACCGGGCAGGTG 0.682 31 88 --- --- --- --- PASS CNTNAP5 129684 broad.mit.edu 37 2 125261888 125261888 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:125261888G>T uc002tno.2 + 8 1443 c.1079G>T c.(1078-1080)TGC>TTC p.C360F CNTNAP5_uc010flu.2_Missense_Mutation_p.C361F NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 360 Laminin G-like 1.|Extracellular (Potential). cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) ACTTTTTCCTGCTCCGAACCA 0.458 7 83 --- --- --- --- PASS CCNT2 905 broad.mit.edu 37 2 135711685 135711685 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:135711685A>G uc002tuc.1 + 9 1692 c.1660A>G c.(1660-1662)AGA>GGA p.R554G CCNT2_uc002tub.1_Missense_Mutation_p.R554G|CCNT2_uc010zbf.1_Missense_Mutation_p.R379G|CCNT2_uc002tud.1_Missense_Mutation_p.R217G NM_058241 NP_490595 O60583 CCNT2_HUMAN cyclin T2 isoform b 554 cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm protein kinase binding ovary(2)|lung(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.107) ACATATTAGCAGAGACCATAA 0.483 44 90 --- --- --- --- PASS RAB3GAP1 22930 broad.mit.edu 37 2 135893449 135893449 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:135893449G>C uc002tuj.2 + 17 1895 c.1870G>C c.(1870-1872)GGG>CGG p.G624R RAB3GAP1_uc010fnf.2_Missense_Mutation_p.G624R|RAB3GAP1_uc010fng.2_Missense_Mutation_p.G449R|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 624 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) CTATCAGCATGGGAAACTTAC 0.413 28 129 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141128387 141128387 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:141128387C>A uc002tvj.1 - 71 11872 c.10900G>T c.(10900-10902)GAA>TAA p.E3634* NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3634 Extracellular (Potential).|LDL-receptor class A 29. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AACTGATCTTCCTTACATTCA 0.388 TSP Lung(27;0.18) 36 121 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141128806 141128806 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:141128806C>G uc002tvj.1 - 70 11789 c.10817G>C c.(10816-10818)TGT>TCT p.C3606S NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3606 Extracellular (Potential).|LDL-receptor class A 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TGCTGAAATACATCCATCACT 0.279 TSP Lung(27;0.18) 13 64 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141680640 141680640 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:141680640C>G uc002tvj.1 - 21 4185 c.3213G>C c.(3211-3213)TGG>TGC p.W1071C LRP1B_uc010fnl.1_Missense_Mutation_p.W253C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 1071 Extracellular (Potential).|LDL-receptor class A 8. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CATCACAGCGCCACAAATCAG 0.418 TSP Lung(27;0.18) 31 106 --- --- --- --- PASS KCNJ3 3760 broad.mit.edu 37 2 155555413 155555413 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:155555413G>C uc002tyv.1 + 1 321 c.126G>C c.(124-126)AAG>AAC p.K42N KCNJ3_uc010zce.1_Missense_Mutation_p.K42N NM_002239 NP_002230 P48549 IRK3_HUMAN potassium inwardly-rectifying channel J3 42 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding upper_aerodigestive_tract(1)|pancreas(1) 2 Halothane(DB01159) CCAAGAAGAAGCGGCAGCGGT 0.637 13 42 --- --- --- --- PASS PKP4 8502 broad.mit.edu 37 2 159499163 159499163 + Nonsense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:159499163C>T uc002tzv.2 + 11 2121 c.1861C>T c.(1861-1863)CGA>TGA p.R621* PKP4_uc002tzt.1_Nonsense_Mutation_p.R473*|PKP4_uc002tzu.2_Nonsense_Mutation_p.R621*|PKP4_uc002tzw.2_Nonsense_Mutation_p.R621*|PKP4_uc002tzx.2_Nonsense_Mutation_p.R278*|PKP4_uc002tzy.1_Nonsense_Mutation_p.R279*|PKP4_uc002tzz.1_Nonsense_Mutation_p.R619*|PKP4_uc002uaa.2_Nonsense_Mutation_p.R473* NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 621 ARM 4. cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TGCCTTGTTGCGACTGTTGAG 0.413 HNSCC(62;0.18) 9 134 --- --- --- --- PASS IFIH1 64135 broad.mit.edu 37 2 163174644 163174644 + Silent SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:163174644T>C uc002uce.2 - 1 396 c.174A>G c.(172-174)GCA>GCG p.A58A IFIH1_uc002ucf.2_Silent_p.A58A NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 58 CARD 1. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 GCAGTTCAACTGCCTGCATGT 0.607 18 77 --- --- --- --- PASS SCN1A 6323 broad.mit.edu 37 2 166870371 166870371 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:166870371C>A uc010zcz.1 - 18 3573 c.3555G>T c.(3553-3555)GTG>GTT p.V1185V SCN1A_uc002udo.3_Silent_p.V1065V|SCN1A_uc010fpk.2_Silent_p.V1037V NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 1196 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) TGCCTTCTTCCACATTGATTT 0.383 26 179 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179495637 179495637 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:179495637C>G uc010zfg.1 - 187 36568 c.36344G>C c.(36343-36345)AGT>ACT p.S12115T TTN_uc010zfh.1_Missense_Mutation_p.S5810T|TTN_uc010zfi.1_Missense_Mutation_p.S5743T|TTN_uc010zfj.1_Missense_Mutation_p.S5618T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 13042 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) CACCTCCACACTGTGCAGGGG 0.498 21 84 --- --- --- --- PASS TTN 7273 broad.mit.edu 37 2 179615578 179615578 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:179615578T>G uc002unb.2 - 46 11773 c.11549A>C c.(11548-11550)GAG>GCG p.E3850A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 9685 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) TGTGGATGACTCTCCAATTGT 0.373 46 161 --- --- --- --- PASS DNAH7 56171 broad.mit.edu 37 2 196689162 196689162 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:196689162T>A uc002utj.3 - 49 9209 c.9108A>T c.(9106-9108)CTA>CTT p.L3036L NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3036 AAA 5 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 CAACATTTTCTAGCAACACTG 0.343 64 101 --- --- --- --- PASS HECW2 57520 broad.mit.edu 37 2 197183868 197183868 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:197183868T>A uc002utm.1 - 9 1929 c.1746A>T c.(1744-1746)ACA>ACT p.T582T HECW2_uc002utl.1_Silent_p.T226T NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 582 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 CGGAAGTCCCTGTGTCTGCGC 0.587 16 63 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219877985 219877985 + Missense_Mutation SNP C T T rs146800134 byFrequency TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:219877985C>T uc002vjl.1 - 24 4037 c.3953G>A c.(3952-3954)CGG>CAG p.R1318Q NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 1318 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) ACTGACCTGCCGTGGGGGTAG 0.527 6 21 --- --- --- --- PASS CCDC108 255101 broad.mit.edu 37 2 219903118 219903118 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:219903118G>T uc002vjl.1 - 4 420 c.336C>A c.(334-336)GCC>GCA p.A112A CCDC108_uc010zkp.1_Silent_p.A101A|CCDC108_uc010zkq.1_Silent_p.A47A|CCDC108_uc002vjn.2_Silent_p.A47A NM_194302 NP_919278 Q6ZU64 CC108_HUMAN coiled-coil domain containing 108 isoform 1 112 integral to membrane structural molecule activity ovary(2)|upper_aerodigestive_tract(1)|pancreas(1) 4 Renal(207;0.0915) Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGTGCTGCAGGCACTCATGG 0.438 11 34 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225729367 225729367 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:225729367T>A uc010fwz.1 - 13 1744 c.1505A>T c.(1504-1506)CAT>CTT p.H502L DOCK10_uc002vob.2_Missense_Mutation_p.H496L|DOCK10_uc002vod.1_Missense_Mutation_p.H502L NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 502 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AATTTCAGAATGTGGATTGCT 0.363 8 72 --- --- --- --- PASS DOCK10 55619 broad.mit.edu 37 2 225729368 225729368 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:225729368G>T uc010fwz.1 - 13 1743 c.1504C>A c.(1504-1506)CAT>AAT p.H502N DOCK10_uc002vob.2_Missense_Mutation_p.H496N|DOCK10_uc002vod.1_Missense_Mutation_p.H502N NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 502 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATTTCAGAATGTGGATTGCTT 0.363 8 70 --- --- --- --- PASS KIAA1486 57624 broad.mit.edu 37 2 226378242 226378242 + Missense_Mutation SNP G T T rs61753537 by1000genomes TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:226378242G>T uc002voe.2 + 3 552 c.377G>T c.(376-378)GGC>GTC p.G126V KIAA1486_uc010fxa.1_Intron NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 126 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) TCGGTTGGGGGCACAGACGAT 0.577 12 51 --- --- --- --- PASS TRIP12 9320 broad.mit.edu 37 2 230657770 230657770 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:230657770C>T uc002vpw.1 - 26 3944 c.3835G>A c.(3835-3837)GTG>ATG p.V1279M TRIP12_uc002vpx.1_Missense_Mutation_p.V1327M|TRIP12_uc002vpy.1_Missense_Mutation_p.V1009M NM_004238 NP_004229 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 1279 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1) 9 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) CACTGCTTCACATTTGCACAG 0.408 4 116 --- --- --- --- PASS GPR55 9290 broad.mit.edu 37 2 231774970 231774970 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:231774970C>A uc002vrg.2 - 2 901 c.708G>T c.(706-708)GTG>GTT p.V236V GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.V236V NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 236 Helical; Name=6; (Potential). activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction integral to plasma membrane cannabinoid receptor activity ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204) Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145) GGAAGGAGACCACGAAGACAG 0.582 4 123 --- --- --- --- PASS ALPI 248 broad.mit.edu 37 2 233322011 233322011 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:233322011C>A uc002vst.3 + 5 704 c.627C>A c.(625-627)CTC>CTA p.L209L ALPI_uc002vsu.3_Silent_p.L120L NM_001631 NP_001622 P09923 PPBI_HUMAN intestinal alkaline phosphatase precursor 209 phosphorylation anchored to membrane|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding|protein binding central_nervous_system(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746) CCACTCAGCTCATCTCCAACA 0.632 52 155 --- --- --- --- PASS GIGYF2 26058 broad.mit.edu 37 2 233671354 233671354 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:233671354C>T uc002vti.3 + 17 2130 c.1793C>T c.(1792-1794)CCC>CTC p.P598L GIGYF2_uc010zmj.1_Missense_Mutation_p.P598L|GIGYF2_uc002vtg.2_Missense_Mutation_p.P592L|GIGYF2_uc002vtj.3_Missense_Mutation_p.P619L|GIGYF2_uc002vtk.3_Missense_Mutation_p.P598L|GIGYF2_uc002vth.3_Missense_Mutation_p.P592L|GIGYF2_uc010zmk.1_RNA|GIGYF2_uc010zml.1_Missense_Mutation_p.P429L NM_015575 NP_056390 Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 isoform b 598 cell death protein binding ovary(4)|central_nervous_system(3) 7 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GGTCCAGCTCCCCCTCCTCAT 0.428 6 198 --- --- --- --- PASS ANO7 50636 broad.mit.edu 37 2 242142807 242142807 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr2:242142807C>T uc002wax.2 + 9 1048 c.945C>T c.(943-945)GTC>GTT p.V315V NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 315 Cytoplasmic (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 AGCGCCAAGTCCTTTTCCAGC 0.682 10 15 --- --- --- --- PASS CNTN6 27255 broad.mit.edu 37 3 1269545 1269545 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:1269545C>A uc003boz.2 + 4 493 c.226C>A c.(226-228)CAC>AAC p.H76N CNTN6_uc010hbo.2_Missense_Mutation_p.H71N|CNTN6_uc011asj.1_Missense_Mutation_p.H4N|CNTN6_uc003bpa.2_Missense_Mutation_p.H76N NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 76 Ig-like C2-type 1. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TATGAGTTATCACTACAGGTT 0.403 65 87 --- --- --- --- PASS TRANK1 9881 broad.mit.edu 37 3 36893661 36893661 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:36893661C>A uc003cgj.2 - 4 3245 c.2943G>T c.(2941-2943)CAG>CAT p.Q981H NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 1531 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 ATTCAATGGGCTGAGTTTTCC 0.403 21 27 --- --- --- --- PASS C3orf23 285343 broad.mit.edu 37 3 44409198 44409198 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:44409198C>A uc010him.2 + 5 815 c.570C>A c.(568-570)CTC>CTA p.L190L C3orf23_uc003cnd.3_Silent_p.L190L|C3orf23_uc003cne.3_Silent_p.L46L NM_173826 NP_776187 Q8N3R3 CC023_HUMAN hypothetical protein LOC285343 isoform 1 190 mitochondrion upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) AAACAACTCTCACGTATGTAA 0.348 3 40 --- --- --- --- PASS RTP3 83597 broad.mit.edu 37 3 46542189 46542189 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:46542189C>A uc003cps.1 + 2 567 c.499C>A c.(499-501)CAG>AAG p.Q167K NM_031440 NP_113628 Q9BQQ7 RTP3_HUMAN transmembrane protein 7 167 Cytoplasmic (Potential). detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TGGGCCCATACAGGTTACAAG 0.517 42 45 --- --- --- --- PASS WDR6 11180 broad.mit.edu 37 3 49050270 49050270 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:49050270C>T uc003cvj.2 + 2 1531 c.1393C>T c.(1393-1395)CCT>TCT p.P465S WDR6_uc011bbx.1_Missense_Mutation_p.P336S|WDR6_uc011bby.1_Intron|WDR6_uc010hkn.2_Missense_Mutation_p.P409S|WDR6_uc011bbz.1_Missense_Mutation_p.P384S NM_018031 NP_060501 Q9NNW5 WDR6_HUMAN WD repeat domain 6 protein 435 WD 7. cell cycle arrest|negative regulation of cell proliferation cytoplasm central_nervous_system(1) 1 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) GACCCTGTTTCCTGGGAAGGT 0.592 14 19 --- --- --- --- PASS CACNA1D 776 broad.mit.edu 37 3 53783447 53783447 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:53783447A>G uc003dgv.3 + 27 3630 c.3467A>G c.(3466-3468)CAG>CGG p.Q1156R CACNA1D_uc003dgu.3_Missense_Mutation_p.Q1176R|CACNA1D_uc003dgy.3_Missense_Mutation_p.Q1156R|CACNA1D_uc003dgw.3_Missense_Mutation_p.Q823R|CACNA1D_uc003dgx.1_Missense_Mutation_p.Q304R NM_001128840 NP_001122312 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, 1156 Dihydropyridine binding (By similarity).|Cytoplasmic (Potential). axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GTTACATTTCAGGAACAAGGA 0.428 3 94 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96706460 96706460 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:96706460C>A uc010how.1 + 3 780 c.737C>A c.(736-738)GCT>GAT p.A246D EPHA6_uc003drp.1_Missense_Mutation_p.A246D NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 151 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 GACACAATTGCTGCTGATGAG 0.398 83 522 --- --- --- --- PASS EPHA6 285220 broad.mit.edu 37 3 96706479 96706479 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:96706479C>A uc010how.1 + 3 799 c.756C>A c.(754-756)ACC>ACA p.T252T EPHA6_uc003drp.1_Silent_p.T252T NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 157 Ephrin-binding.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 AGAGTTTTACCCAGATGGATT 0.398 84 542 --- --- --- --- PASS OR5K4 403278 broad.mit.edu 37 3 98073466 98073466 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:98073466A>T uc011bgv.1 + 1 769 c.769A>T c.(769-771)ATG>TTG p.M257L NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 257 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 TTGTCTTCTCATGTATATTGG 0.353 77 395 --- --- --- --- PASS CBLB 868 broad.mit.edu 37 3 105586391 105586391 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:105586391C>G uc003dwc.2 - 2 353 c.31G>C c.(31-33)GGT>CGT p.G11R CBLB_uc011bhi.1_Missense_Mutation_p.G33R|CBLB_uc003dwd.1_Missense_Mutation_p.G11R|CBLB_uc003dwe.1_Missense_Mutation_p.G11R|CBLB_uc011bhj.1_RNA NM_170662 NP_733762 Q13191 CBLB_HUMAN Cas-Br-M (murine) ecotropic retroviral 11 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding lung(4)|ovary(3)|breast(1)|skin(1) 9 CCTCGACCACCAGGGTTTCTG 0.413 Mis S AML 111 174 --- --- --- --- PASS TRAT1 50852 broad.mit.edu 37 3 108572578 108572578 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:108572578C>A uc003dxi.1 + 6 559 c.415C>A c.(415-417)CAA>AAA p.Q139K TRAT1_uc010hpx.1_Missense_Mutation_p.Q102K NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 139 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 TGGAGATGAGCAACTACATGC 0.458 17 142 --- --- --- --- PASS MORC1 27136 broad.mit.edu 37 3 108723703 108723703 + Nonsense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:108723703C>T uc003dxl.2 - 20 2133 c.2046G>A c.(2044-2046)TGG>TGA p.W682* MORC1_uc011bhn.1_Nonsense_Mutation_p.W661* NM_014429 NP_055244 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 682 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding ovary(3)|skin(3)|breast(2) 8 GTTGAGCTCTCCAGACAGTGG 0.368 298 452 --- --- --- --- PASS ARHGAP31 57514 broad.mit.edu 37 3 119134230 119134230 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:119134230G>T uc003ecj.3 + 12 3986 c.3454G>T c.(3454-3456)GCA>TCA p.A1152S NM_020754 NP_065805 Q2M1Z3 RHG31_HUMAN Cdc42 GTPase-activating protein 1152 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity ovary(2) 2 TTACTGTAAAGCAGACCCCTG 0.537 10 149 --- --- --- --- PASS HGD 3081 broad.mit.edu 37 3 120357315 120357315 + Silent SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:120357315A>C uc003edw.2 - 12 1363 c.993T>G c.(991-993)CCT>CCG p.P331P HGD_uc003edv.2_Silent_p.P190P NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 331 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) GGTAATAAGGAGGCCTGAAGG 0.478 101 165 --- --- --- --- PASS EPHB1 2047 broad.mit.edu 37 3 134644715 134644715 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:134644715C>A uc003eqt.2 + 2 336 c.116C>A c.(115-117)GCG>GAG p.A39E EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.A39E NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 39 Extracellular (Potential). 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 GCCAATCCTGCGTCCGGGGTG 0.463 12 32 --- --- --- --- PASS DBR1 51163 broad.mit.edu 37 3 137893470 137893470 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:137893470G>A uc003erv.2 - 1 304 c.168C>T c.(166-168)CCC>CCT p.P56P DBR1_uc003eru.2_Silent_p.P5P NM_016216 NP_057300 Q9UK59 DBR1_HUMAN debranching enzyme homolog 1 56 nucleus metal ion binding|RNA lariat debranching enzyme activity 0 GACGATACTTGGGCGGCACGG 0.692 8 29 --- --- --- --- PASS TRIM42 287015 broad.mit.edu 37 3 140401982 140401982 + Silent SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:140401982C>G uc003eto.1 + 2 1211 c.1020C>G c.(1018-1020)GCC>GCG p.A340A NM_152616 NP_689829 Q8IWZ5 TRI42_HUMAN tripartite motif-containing 42 340 intracellular zinc ion binding lung(2)|skin(2)|upper_aerodigestive_tract(1)|breast(1)|central_nervous_system(1) 7 TCTTCAGCGCCATCGCCAAGT 0.532 4 187 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142178192 142178192 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:142178192C>G uc003eux.3 - 43 7348 c.7226G>C c.(7225-7227)TGT>TCT p.C2409S ATR_uc003euy.1_Missense_Mutation_p.C295S NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 2409 PI3K/PI4K. cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TGGTAGCATACACTGGCGAAG 0.398 Other_conserved_DNA_damage_response_genes 31 173 --- --- --- --- PASS ATR 545 broad.mit.edu 37 3 142257406 142257406 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:142257406C>A uc003eux.3 - 19 3765 c.3643G>T c.(3643-3645)GTA>TTA p.V1215L NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 1215 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 GCTACTATTACATGACTGAGA 0.388 Other_conserved_DNA_damage_response_genes 110 168 --- --- --- --- PASS ZIC4 84107 broad.mit.edu 37 3 147120521 147120521 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:147120521C>T uc003ewd.1 - 2 337 c.64G>A c.(64-66)GAG>AAG p.E22K ZIC4_uc011bno.1_Missense_Mutation_p.E72K NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 22 nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 TTACTTGACTCTTTAAGAGTG 0.313 141 242 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128383 147128383 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:147128383C>A uc003ewe.2 + 1 1203 c.484C>A c.(484-486)CAG>AAG p.Q162K NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 162 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GGTCAACGGGCAGATGAGGCT 0.711 7 10 --- --- --- --- PASS ZIC1 7545 broad.mit.edu 37 3 147128470 147128470 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:147128470G>T uc003ewe.2 + 1 1290 c.571G>T c.(571-573)GCG>TCG p.A191S NM_003412 NP_003403 Q15915 ZIC1_HUMAN zinc finger protein of the cerebellum 1 191 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 GCACTATGCTGCGCCGCAGCT 0.662 37 68 --- --- --- --- PASS USP13 8975 broad.mit.edu 37 3 179426630 179426630 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:179426630G>T uc003fkh.2 + 6 771 c.690G>T c.(688-690)CTG>CTT p.L230L USP13_uc003fkf.2_Silent_p.L230L NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 230 UBP-type. ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) GCTCTGTCCTGTGTGGAAAGT 0.537 109 191 --- --- --- --- PASS DVL3 1857 broad.mit.edu 37 3 183885468 183885468 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:183885468G>T uc003fms.2 + 12 1439 c.1299G>T c.(1297-1299)TGG>TGT p.W433C DVL3_uc011bqw.1_Missense_Mutation_p.W416C|DVL3_uc003fmt.2_Missense_Mutation_p.W104C|DVL3_uc003fmu.2_Missense_Mutation_p.W265C NM_004423 NP_004414 Q92997 DVL3_HUMAN dishevelled 3 433 DEP. canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity ovary(1)|lung(1)|breast(1) 3 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) ACCGCATGTGGCTCAAGATTA 0.597 49 104 --- --- --- --- PASS DGKG 1608 broad.mit.edu 37 3 185979515 185979515 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:185979515G>T uc003fqa.2 - 15 1859 c.1322C>A c.(1321-1323)CCC>CAC p.P441H DGKG_uc003fqb.2_Missense_Mutation_p.P402H|DGKG_uc003fqc.2_Missense_Mutation_p.P441H|DGKG_uc011brx.1_Missense_Mutation_p.P382H NM_001346 NP_001337 P49619 DGKG_HUMAN diacylglycerol kinase gamma isoform 1 441 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) TCCACTCTTGGGGTTCACCAA 0.488 15 18 --- --- --- --- PASS ZBTB49 166793 broad.mit.edu 37 4 4303783 4303783 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:4303783G>T uc003ghu.2 + 3 395 c.220G>T c.(220-222)GGC>TGC p.G74C ZBTB49_uc003ghv.2_Intron|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_5'Flank NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 74 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 AAATGTCAGTGGCATAGGGCA 0.398 49 54 --- --- --- --- PASS GABRG1 2565 broad.mit.edu 37 4 46060535 46060535 + Silent SNP G T T rs142799145 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:46060535G>T uc003gxb.2 - 6 882 c.730C>A c.(730-732)CGG>AGG p.R244R NM_173536 NP_775807 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid A receptor, gamma 1 244 Extracellular (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity ovary(2) 2 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) GTTGAGTTCCGTAACCCTACA 0.333 36 50 --- --- --- --- PASS NMU 10874 broad.mit.edu 37 4 56471492 56471492 + Nonsense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:56471492G>A uc003hbc.2 - 7 491 c.385C>T c.(385-387)CAG>TAG p.Q129* NMU_uc003hbd.1_Intron|NMU_uc010igv.1_RNA|NMU_uc010igw.1_Nonsense_Mutation_p.Q44*|NMU_uc010igx.1_Intron NM_006681 NP_006672 P48645 NMU_HUMAN neuromedin U precursor 129 neuropeptide signaling pathway extracellular region 0 Lung NSC(11;0.00256)|all_epithelial(27;0.075)|Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.103) LUSC - Lung squamous cell carcinoma(4;6.72e-08)|Lung(4;6.22e-07)|Epithelial(7;0.00559) LUSC - Lung squamous cell carcinoma(721;0.0115) GGAACGAGCTGCAGCAACGGA 0.498 66 95 --- --- --- --- PASS LPHN3 23284 broad.mit.edu 37 4 62598642 62598642 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:62598642G>T uc010ihh.2 + 5 738 c.565G>T c.(565-567)GAT>TAT p.D189Y LPHN3_uc003hcq.3_Missense_Mutation_p.D189Y|LPHN3_uc010ihg.1_Missense_Mutation_p.D257Y|LPHN3_uc003hcs.1_Missense_Mutation_p.D18Y NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN latrophilin 3 precursor 189 Extracellular (Potential).|Olfactomedin-like. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding lung(15)|ovary(1)|central_nervous_system(1)|pancreas(1) 18 TTCATCCAAGGATGACTTCAT 0.473 4 64 --- --- --- --- PASS TECRL 253017 broad.mit.edu 37 4 65145803 65145803 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:65145803G>A uc003hcv.2 - 12 1188 c.1079C>T c.(1078-1080)CCA>CTA p.P360L TECRL_uc010ihi.2_RNA NM_001010874 NP_001010874 Q5HYJ1 TECRL_HUMAN steroid 5 alpha-reductase 2-like 2 360 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors 0 CAATATGAATGGAATCATTGC 0.274 22 25 --- --- --- --- PASS HERC3 8916 broad.mit.edu 37 4 89526980 89526980 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:89526980A>G uc003hrw.1 + 3 172 c.6A>G c.(4-6)TTA>TTG p.L2L HERC3_uc003hrv.2_Silent_p.L2L|HERC3_uc011cdn.1_Intron NM_014606 NP_055421 Q15034 HERC3_HUMAN hect domain and RLD 3 2 RCC1 1. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasmic membrane-bounded vesicle ubiquitin-protein ligase activity lung(2)|prostate(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(123;0.000319) GAACAATGTTATGTTGGGGAT 0.393 34 45 --- --- --- --- PASS FAM190A 401145 broad.mit.edu 37 4 91389384 91389384 + Splice_Site SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:91389384G>T uc003hsv.3 + 5 1944 c.1604_splice c.e5-1 p.V535_splice FAM190A_uc010ikv.2_Splice_Site|FAM190A_uc003hsw.2_Splice_Site_p.V535_splice NM_001145065 NP_001138537 Q9C0I3 F190A_HUMAN KIAA1680 protein isoform 1 large_intestine(1)|ovary(1) 2 TTTTTGAACAGTTTGCCGGGA 0.363 14 23 --- --- --- --- PASS EGF 1950 broad.mit.edu 37 4 110864470 110864470 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:110864470G>A uc003hzy.3 + 3 840 c.388G>A c.(388-390)GTT>ATT p.V130I EGF_uc011cfu.1_Missense_Mutation_p.V130I|EGF_uc011cfv.1_Missense_Mutation_p.V130I NM_001963 NP_001954 P01133 EGF_HUMAN epidermal growth factor precursor 130 LDL-receptor class B 2.|Extracellular (Potential). angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AAATGAAGAAGTTATTTGGTC 0.284 50 69 --- --- --- --- PASS KIAA1109 84162 broad.mit.edu 37 4 123150382 123150382 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:123150382C>T uc003ieh.2 + 23 3074 c.3029C>T c.(3028-3030)GCT>GTT p.A1010V KIAA1109_uc003iei.1_Missense_Mutation_p.A763V|KIAA1109_uc010ins.1_Missense_Mutation_p.A353V NM_015312 NP_056127 Q2LD37 K1109_HUMAN fragile site-associated protein 1010 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1) 12 CATGGTTGTGCTACAAATATA 0.348 71 81 --- --- --- --- PASS ADAD1 132612 broad.mit.edu 37 4 123329103 123329103 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:123329103C>T uc003ieo.2 + 8 997 c.765C>T c.(763-765)TAC>TAT p.Y255Y ADAD1_uc003iep.2_Silent_p.Y255Y|ADAD1_uc003ieq.2_Silent_p.Y237Y NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 255 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 CAGGTGAATACAATTACAGCC 0.408 38 51 --- --- --- --- PASS ZNF827 152485 broad.mit.edu 37 4 146823589 146823589 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:146823589C>A uc003ikn.2 - 2 870 c.822G>T c.(820-822)CCG>CCT p.P274P ZNF827_uc003ikm.2_Silent_p.P274P|ZNF827_uc010iox.2_Intron NM_178835 NP_849157 Q17R98 ZN827_HUMAN zinc finger protein 827 274 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_hematologic(180;0.151) AGGAGCTGGCCGGTGGAGGGT 0.577 56 59 --- --- --- --- PASS NR3C2 4306 broad.mit.edu 37 4 149357300 149357300 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:149357300G>A uc003ilj.3 - 2 1047 c.713C>T c.(712-714)TCC>TTC p.S238F NR3C2_uc003ilk.3_Missense_Mutation_p.S238F|NR3C2_uc010iph.2_RNA NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 238 Modulating. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) AACATTAGGGGAGCATGTCAG 0.537 32 42 --- --- --- --- PASS GRIA2 2891 broad.mit.edu 37 4 158262492 158262492 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:158262492T>G uc003ipm.3 + 12 2380 c.1921T>G c.(1921-1923)TTA>GTA p.L641V GRIA2_uc011cit.1_Missense_Mutation_p.L594V|GRIA2_uc003ipl.3_Missense_Mutation_p.L641V|GRIA2_uc003ipk.3_Missense_Mutation_p.L594V|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 641 Helical; (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CACGGCTAACTTAGCTGCCTT 0.448 4 212 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164394289 164394289 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr4:164394289C>T uc003iqp.3 - 1 759 c.598G>A c.(598-600)GCA>ACA p.A200T NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 200 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) TAGATGTCTGCGCCATGCTCA 0.522 29 90 --- --- --- --- PASS KIAA0947 23379 broad.mit.edu 37 5 5473764 5473764 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:5473764G>C uc003jdm.3 + 16 6538 c.6316G>C c.(6316-6318)GGT>CGT p.G2106R NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 2106 ovary(1)|central_nervous_system(1) 2 TGAAAAATTTGGTGAAGACCT 0.398 40 44 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24487930 24487930 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:24487930C>T uc003jgr.1 - 12 2541 c.2209G>A c.(2209-2211)GCC>ACC p.A737T CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 737 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) CCTTCATAGGCATAGGTTGCA 0.473 HNSCC(23;0.051) 75 203 --- --- --- --- PASS RNASEN 29102 broad.mit.edu 37 5 31508727 31508727 + Splice_Site SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:31508727C>A uc003jhg.2 - 9 1946 c.1587_splice c.e9+1 p.Q529_splice RNASEN_uc003jhh.2_Splice_Site_p.Q492_splice|RNASEN_uc003jhi.2_Splice_Site_p.Q492_splice|RNASEN_uc010iui.1_Splice_Site_p.Q452_splice NM_013235 NP_037367 Q9NRR4 RNC_HUMAN ribonuclease III, nuclear isoform 1 gene silencing by RNA|ribosome biogenesis|RNA processing nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity 0 AAAACACGCACCTGGCCTGGA 0.448 65 128 --- --- --- --- PASS ADAMTS12 81792 broad.mit.edu 37 5 33576935 33576935 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:33576935G>T uc003jia.1 - 19 3359 c.3196C>A c.(3196-3198)CAG>AAG p.Q1066K ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q981K NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 1066 Spacer 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTTGCCACTGTTTCCCACCC 0.547 HNSCC(64;0.19) 60 92 --- --- --- --- PASS IL7R 3575 broad.mit.edu 37 5 35875689 35875689 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:35875689A>T uc003jjs.2 + 7 965 c.876A>T c.(874-876)AAA>AAT p.K292N IL7R_uc011coo.1_Missense_Mutation_p.K261M|IL7R_uc011cop.1_RNA NM_002185 NP_002176 P16871 IL7RA_HUMAN interleukin 7 receptor precursor 292 Cytoplasmic (Potential). immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity ovary(3)|breast(1)|skin(1) 5 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) AACCAAGAAAAGTGAGTGTTT 0.413 23 86 --- --- --- --- PASS LIFR 3977 broad.mit.edu 37 5 38489285 38489285 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:38489285A>T uc010ive.1 - 16 2562 c.2230T>A c.(2230-2232)TGG>AGG p.W744R LIFR_uc003jli.2_Missense_Mutation_p.W744R NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 744 Fibronectin type-III 6.|Extracellular (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) ATGTCTTCCCATTTTACTAAT 0.363 T PLAG1 salivary adenoma 16 105 --- --- --- --- PASS ISL1 3670 broad.mit.edu 37 5 50683495 50683495 + Silent SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:50683495A>T uc003jor.2 + 3 938 c.390A>T c.(388-390)CGA>CGT p.R130R NM_002202 NP_002193 P61371 ISL1_HUMAN islet-1 130 LIM zinc-binding 2. generation of precursor metabolites and energy|multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 Lung NSC(810;0.000845)|Breast(144;0.0411) TCTTCTGCCGAGCAGACCACG 0.632 28 33 --- --- --- --- PASS HTR1A 3350 broad.mit.edu 37 5 63256748 63256748 + Missense_Mutation SNP C T T rs34158987 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:63256748C>T uc011cqt.1 - 1 799 c.799G>A c.(799-801)GTG>ATG p.V267M NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 267 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TTGCTCTCCACGCCCAGCCTC 0.667 5 100 --- --- --- --- PASS CRHBP 1393 broad.mit.edu 37 5 76249897 76249897 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:76249897C>T uc003ker.2 + 3 499 c.219C>T c.(217-219)ACC>ACT p.T73T CRHBP_uc010izx.2_Silent_p.T73T NM_001882 NP_001873 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 73 female pregnancy|learning or memory|signal transduction soluble fraction 0 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TCACCTTCACCGCCGACCGGC 0.662 28 29 --- --- --- --- PASS VCAN 1462 broad.mit.edu 37 5 82815811 82815811 + Silent SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:82815811T>C uc003kii.3 + 7 2042 c.1686T>C c.(1684-1686)CTT>CTC p.L562L VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.L562L|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 562 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ACAGAACACTTACAGTTGGAT 0.413 9 159 --- --- --- --- PASS GPR98 84059 broad.mit.edu 37 5 90136422 90136422 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:90136422C>T uc003kju.2 + 78 16735 c.16639C>T c.(16639-16641)CGT>TGT p.R5547C GPR98_uc003kjt.2_Missense_Mutation_p.R3253C|GPR98_uc003kjw.2_Missense_Mutation_p.R1208C NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5547 Extracellular (Potential). 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 p.R5547H(1) 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) AACAATTGGTCGTACCATCAT 0.388 26 72 --- --- --- --- PASS AQPEP 206338 broad.mit.edu 37 5 115339035 115339035 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:115339035A>T uc003kro.2 + 12 2159 c.1995A>T c.(1993-1995)TTA>TTT p.L665F AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 665 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 ATGATAAATTAGGTTGGAAGA 0.289 68 93 --- --- --- --- PASS DDX46 9879 broad.mit.edu 37 5 134121181 134121181 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:134121181C>G uc003kzw.2 + 11 1537 c.1369C>G c.(1369-1371)CTG>GTG p.L457V DDX46_uc003kzv.1_RNA NM_014829 NP_055644 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 457 Helicase ATP-binding. mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AACTCGAGAACTGGCTTTACA 0.403 7 154 --- --- --- --- PASS PCDHB5 26167 broad.mit.edu 37 5 140515253 140515253 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:140515253A>G uc003liq.2 + 1 454 c.237A>G c.(235-237)ATA>ATG p.I79M NM_015669 NP_056484 Q9Y5E4 PCDB5_HUMAN protocadherin beta 5 precursor 79 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTTGATATAAAGACCGGCA 0.498 53 79 --- --- --- --- PASS PCDHGA1 56114 broad.mit.edu 37 5 140711782 140711782 + Missense_Mutation SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:140711782A>C uc003lji.1 + 1 1531 c.1531A>C c.(1531-1533)ACT>CCT p.T511P PCDHGA1_uc011dan.1_Missense_Mutation_p.T511P NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 511 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACTCCGACACTGGGGTCCT 0.557 113 106 --- --- --- --- PASS PCDHGB1 56104 broad.mit.edu 37 5 140731777 140731777 + Silent SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:140731777C>G uc003ljo.1 + 1 1950 c.1950C>G c.(1948-1950)CTC>CTG p.L650L PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGA4_uc003ljq.1_5'Flank|PCDHGB1_uc011daq.1_Silent_p.L650L|PCDHGA4_uc003ljp.1_5'Flank NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 650 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGCCGCCACTCTCCGCCACCG 0.687 33 42 --- --- --- --- PASS HAVCR2 84868 broad.mit.edu 37 5 156531691 156531691 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:156531691C>A uc003lwk.1 - 3 608 c.464G>T c.(463-465)AGG>ATG p.R155M NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 155 Extracellular (Potential). integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GCCATGTCCCCTGGTGGTAAG 0.478 14 17 --- --- --- --- PASS ATP10B 23120 broad.mit.edu 37 5 160059348 160059348 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:160059348G>A uc003lym.1 - 13 2255 c.1408C>T c.(1408-1410)CTG>TTG p.L470L ATP10B_uc003lyn.2_Silent_p.L28L NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 470 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTGAGTCCAGCTCCTTTGGG 0.512 50 69 --- --- --- --- PASS CCDC99 54908 broad.mit.edu 37 5 169018201 169018201 + Silent SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:169018201A>T uc003mae.3 + 3 588 c.309A>T c.(307-309)GGA>GGT p.G103G CCDC99_uc010jjj.2_Silent_p.G32G|CCDC99_uc011deq.1_5'UTR|CCDC99_uc010jjk.2_5'UTR NM_017785 NP_060255 Q96EA4 SPDLY_HUMAN coiled-coil domain containing 99 103 Potential. cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole kinetochore binding|protein binding ovary(1)|liver(1) 2 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GAAGCCATGGACAGGAAGTGA 0.358 37 42 --- --- --- --- PASS STC2 8614 broad.mit.edu 37 5 172744980 172744980 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:172744980C>T uc003mco.1 - 4 2089 c.779G>A c.(778-780)GGT>GAT p.G260D STC2_uc003mcn.1_Missense_Mutation_p.G175D NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 260 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) ACCTCGCTCACCCTTGGCACC 0.657 25 78 --- --- --- --- PASS CPEB4 80315 broad.mit.edu 37 5 173317599 173317599 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:173317599A>G uc003mcs.3 + 1 2269 c.863A>G c.(862-864)TAC>TGC p.Y288C CPEB4_uc010jju.1_Missense_Mutation_p.Y288C|CPEB4_uc010jjv.2_Missense_Mutation_p.Y288C|CPEB4_uc011dfg.1_Missense_Mutation_p.Y288C|CPEB4_uc003mct.3_5'Flank|CPEB4_uc003mcu.3_5'Flank NM_030627 NP_085130 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding 288 nucleotide binding|RNA binding 0 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TGGAGCAGCTACCAGAGTCCG 0.582 120 170 --- --- --- --- PASS ZNF354B 117608 broad.mit.edu 37 5 178310363 178310363 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr5:178310363G>A uc003mjl.2 + 5 1136 c.910G>A c.(910-912)GGT>AGT p.G304S ZNF354B_uc003mjm.2_Missense_Mutation_p.G304S NM_058230 NP_478137 Q96LW1 Z354B_HUMAN zinc finger protein 354B 304 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAAAGAATGTGGTAAATCCTT 0.393 48 47 --- --- --- --- PASS PHACTR1 221692 broad.mit.edu 37 6 13182901 13182901 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:13182901A>T uc010jpc.2 + 7 979 c.647A>T c.(646-648)GAC>GTC p.D216V PHACTR1_uc011dir.1_Missense_Mutation_p.D216V|PHACTR1_uc003nag.1_Missense_Mutation_p.D216V|PHACTR1_uc003nah.1_Missense_Mutation_p.D216V NM_030948 NP_112210 Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 216 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity 0 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CAACCGTCAGACATCATGGAT 0.602 58 91 --- --- --- --- PASS RANBP9 10048 broad.mit.edu 37 6 13632623 13632623 + Silent SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:13632623A>T uc003nbb.2 - 12 1985 c.1926T>A c.(1924-1926)ACT>ACA p.T642T RANBP9_uc003nba.2_Silent_p.T301T NM_005493 NP_005484 Q96S59 RANB9_HUMAN RAN binding protein 9 642 Interaction with FMR1. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding lung(1)|skin(1) 2 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) TTTTGTTTGCAGTGTTCTTGC 0.388 93 109 --- --- --- --- PASS HIST1H2AB 8335 broad.mit.edu 37 6 26033762 26033762 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:26033762C>A uc003nft.1 - 1 35 c.35G>T c.(34-36)CGC>CTC p.R12L HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 12 nucleosome assembly nucleosome|nucleus DNA binding 0 AGCCTTGGCGCGAGCTTTACC 0.532 40 55 --- --- --- --- PASS HIST1H2AB 8335 broad.mit.edu 37 6 26033764 26033764 + Silent SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:26033764A>C uc003nft.1 - 1 33 c.33T>G c.(31-33)GCT>GCG p.A11A HIST1H3B_uc003nfs.1_5'Flank NM_003513 NP_003504 P04908 H2A1B_HUMAN histone cluster 1, H2ab 11 nucleosome assembly nucleosome|nucleus DNA binding 0 CCTTGGCGCGAGCTTTACCGC 0.527 40 55 --- --- --- --- PASS BTN2A2 10385 broad.mit.edu 37 6 26392893 26392893 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:26392893G>A uc003nhq.2 + 8 1356 c.1270G>A c.(1270-1272)GGA>AGA p.G424R BTN2A2_uc011dkg.1_3'UTR|BTN2A2_uc003nhr.2_Missense_Mutation_p.G308R|BTN2A2_uc011dkh.1_Missense_Mutation_p.G214R|BTN2A2_uc003nhs.2_Intron|BTN2A2_uc003nht.2_Missense_Mutation_p.G424R|BTN2A2_uc011dki.1_3'UTR NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 424 B30.2/SPRY.|Cytoplasmic (Potential). negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 GGAGATGTTTGGAAACCAATA 0.562 32 30 --- --- --- --- PASS ZNF323 64288 broad.mit.edu 37 6 28294603 28294603 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:28294603C>G uc003nla.2 - 4 961 c.561G>C c.(559-561)GAG>GAC p.E187D ZNF323_uc003nld.2_Missense_Mutation_p.E187D|ZNF323_uc010jra.2_Missense_Mutation_p.E187D|ZNF323_uc003nlb.2_Missense_Mutation_p.E28D|ZNF323_uc010jrb.2_Missense_Mutation_p.E28D|ZNF323_uc003nlc.2_Missense_Mutation_p.E187D NM_001135216 NP_001128688 Q96LW9 ZN323_HUMAN zinc finger protein 323 187 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 TTGATGCCAACTCCTGGTTCT 0.343 47 53 --- --- --- --- PASS GABBR1 2550 broad.mit.edu 37 6 29588941 29588941 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:29588941C>A uc003nmt.3 - 11 1596 c.1260G>T c.(1258-1260)GAG>GAT p.E420D GABBR1_uc003nmp.3_Missense_Mutation_p.E303D|GABBR1_uc003nms.3_Missense_Mutation_p.E303D|GABBR1_uc003nmu.3_Missense_Mutation_p.E358D|GABBR1_uc011dlr.1_Missense_Mutation_p.E243D|GABBR1_uc011dls.1_Missense_Mutation_p.E420D NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor 1 420 Extracellular (Potential). gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity ovary(5)|liver(1)|skin(1) 7 Baclofen(DB00181)|Progabide(DB00837) TGATGTGGCCCTCCACCGCCT 0.517 31 32 --- --- --- --- PASS CUL9 23113 broad.mit.edu 37 6 43181259 43181259 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:43181259G>T uc003ouk.2 + 28 5517 c.5442G>T c.(5440-5442)GGG>GGT p.G1814G CUL9_uc003oul.2_Silent_p.G1814G|CUL9_uc010jyk.2_Silent_p.G966G|CUL9_uc003oun.2_5'Flank NM_015089 NP_055904 Q8IWT3 CUL9_HUMAN p53-associated parkin-like cytoplasmic protein 1814 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1) 12 TCACCTCAGGGAATGGCCCTT 0.632 4 76 --- --- --- --- PASS PRSS35 167681 broad.mit.edu 37 6 84233821 84233821 + Nonsense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:84233821G>T uc003pjz.2 + 2 824 c.661G>T c.(661-663)GAG>TAG p.E221* PRSS35_uc010kbm.2_Nonsense_Mutation_p.E221* NM_153362 NP_699193 Q8N3Z0 PRS35_HUMAN protease, serine, 35 precursor 221 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(1) 1 all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575) BRCA - Breast invasive adenocarcinoma(397;0.0768) GGGTACCAGAGAGCATCTGCG 0.532 19 36 --- --- --- --- PASS EPHA7 2045 broad.mit.edu 37 6 94066583 94066583 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:94066583C>A uc003poe.2 - 5 1417 c.1176G>T c.(1174-1176)CAG>CAT p.Q392H EPHA7_uc003pof.2_Missense_Mutation_p.Q392H|EPHA7_uc011eac.1_Missense_Mutation_p.Q392H NM_004440 NP_004431 Q15375 EPHA7_HUMAN ephrin receptor EphA7 precursor 392 Extracellular (Potential).|Fibronectin type-III 1. integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1) 28 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTAATCCAGTCTGCTGGGGCA 0.458 31 29 --- --- --- --- PASS ASCC3 10973 broad.mit.edu 37 6 101095237 101095237 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:101095237C>G uc003pqk.2 - 21 3672 c.3343G>C c.(3343-3345)GTC>CTC p.V1115L ASCC3_uc011eai.1_Missense_Mutation_p.V1017L NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 1115 SEC63 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TTGTCAATGACTTTACTAAGA 0.408 48 54 --- --- --- --- PASS OSTM1 28962 broad.mit.edu 37 6 108395464 108395464 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:108395464C>A uc003psd.2 - 1 478 c.392G>T c.(391-393)CGA>CTA p.R131L NM_014028 NP_054747 Q86WC4 OSTM1_HUMAN osteopetrosis associated transmembrane protein 1 131 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 all_cancers(87;3.82e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000195)|Colorectal(196;0.0293)|all_lung(197;0.0938) BRCA - Breast invasive adenocarcinoma(108;0.0131)|Epithelial(106;0.0438)|OV - Ovarian serous cystadenocarcinoma(136;0.0571)|all cancers(137;0.0581) CCCCGCGGCTCGGCTGATGTT 0.602 17 21 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121427234 121427234 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:121427234G>C uc003pyo.1 - 30 3468 c.3400C>G c.(3400-3402)CTA>GTA p.L1134V NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 1134 Rab-GAP TBC. multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) GCCTTCAGTAGCATTTCAATA 0.388 6 246 --- --- --- --- PASS C6orf170 221322 broad.mit.edu 37 6 121625726 121625726 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:121625726G>C uc003pyo.1 - 7 883 c.815C>G c.(814-816)CCT>CGT p.P272R C6orf170_uc003pyq.1_RNA NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 272 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) TGAAAGAGTAGGAATATGATT 0.289 40 52 --- --- --- --- PASS STL 7955 broad.mit.edu 37 6 125231797 125231797 + RNA SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:125231797A>G uc003pzq.2 - 7 c.2937T>C NR_026876 Homo sapiens mRNA; cDNA DKFZp451I132 (from clone DKFZp451I132). 0 ctagttagagaagcagagatg 0.164 T ETV6 B-ALL 10 18 --- --- --- --- PASS INTS1 26173 broad.mit.edu 37 7 1513289 1513289 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:1513289T>G uc003skn.2 - 42 5971 c.5870A>C c.(5869-5871)AAC>ACC p.N1957T INTS1_uc003skm.1_Missense_Mutation_p.N94T NM_001080453 NP_001073922 Q8N201 INT1_HUMAN integrator complex subunit 1 1957 snRNA processing integral to membrane|integrator complex|nuclear membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15) CACAAACTTGTTGATGAAGGC 0.567 OREG0017827 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 22 --- --- --- --- PASS TMEM184A 202915 broad.mit.edu 37 7 1589575 1589575 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:1589575G>C uc003skv.3 - 6 876 c.559C>G c.(559-561)CTG>GTG p.L187V TMEM184A_uc003skt.3_5'UTR|TMEM184A_uc003skw.3_5'UTR NM_001097620 NP_001091089 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 187 Helical; (Potential). integral to membrane 0 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) CAGAACTGCAGAGTGGCCTGG 0.657 43 50 --- --- --- --- PASS ICA1 3382 broad.mit.edu 37 7 8198194 8198194 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:8198194C>G uc003srm.2 - 7 735 c.668G>C c.(667-669)AGA>ACA p.R223T ICA1_uc010ktr.2_Missense_Mutation_p.R223T|ICA1_uc003srl.2_Missense_Mutation_p.R211T|ICA1_uc003srn.3_Missense_Mutation_p.R149T|ICA1_uc003srp.3_Missense_Mutation_p.R222T|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.R223T|ICA1_uc003srr.2_Missense_Mutation_p.R222T|ICA1_uc003sro.3_Missense_Mutation_p.R223T|ICA1_uc011jxg.1_Missense_Mutation_p.R223T|ICA1_uc003srs.1_Missense_Mutation_p.R223T NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 223 AH. neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) GAGATTGCATCTGCTCGCTCC 0.358 48 158 --- --- --- --- PASS TWISTNB 221830 broad.mit.edu 37 7 19748537 19748537 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:19748537C>A uc003sup.1 - 1 124 c.103G>T c.(103-105)GCC>TCC p.A35S NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 35 microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 CAAGCAGCGGCATAAGTCGGC 0.652 OREG0017879 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 55 --- --- --- --- PASS NOD1 10392 broad.mit.edu 37 7 30496374 30496374 + Missense_Mutation SNP G A A rs6947097 byFrequency TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:30496374G>A uc003tav.2 - 4 687 c.164C>T c.(163-165)GCG>GTG p.A55V NOD1_uc010kvs.2_Missense_Mutation_p.A55V|NOD1_uc003tax.2_RNA|NOD1_uc003tay.2_RNA|NOD1_uc010kvt.2_RNA|NOD1_uc010kvu.2_RNA NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 55 CARD. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CACAATCTCCGCATCTTCGGC 0.567 80 72 --- --- --- --- PASS ADCYAP1R1 117 broad.mit.edu 37 7 31123762 31123762 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:31123762G>A uc003tca.1 + 7 558 c.335G>A c.(334-336)GGA>GAA p.G112E ADCYAP1R1_uc003tcb.1_Missense_Mutation_p.G91E|ADCYAP1R1_uc003tcc.1_Missense_Mutation_p.G112E|ADCYAP1R1_uc003tcd.1_Missense_Mutation_p.G112E|ADCYAP1R1_uc003tce.1_Missense_Mutation_p.G112E|ADCYAP1R1_uc003tcf.1_5'Flank NM_001118 NP_001109 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 112 Extracellular (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity ovary(1) 1 GCAGACATGGGAGTGGTGAGC 0.483 21 82 --- --- --- --- PASS AMPH 273 broad.mit.edu 37 7 38475876 38475876 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:38475876G>C uc003tgu.2 - 12 1199 c.1130C>G c.(1129-1131)TCT>TGT p.S377C AMPH_uc003tgv.2_Missense_Mutation_p.S377C|AMPH_uc003tgt.2_Missense_Mutation_p.S130C NM_001635 NP_001626 P49418 AMPH_HUMAN amphiphysin isoform 1 377 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane ovary(3)|liver(1)|skin(1) 5 TGATACCTGAGACATGGGTGA 0.463 27 114 --- --- --- --- PASS VPS41 27072 broad.mit.edu 37 7 38908827 38908827 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:38908827C>A uc003tgy.2 - 3 113 c.87G>T c.(85-87)AAG>AAT p.K29N VPS41_uc003tgz.2_Missense_Mutation_p.K29N|VPS41_uc010kxn.2_Missense_Mutation_p.K29N NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 29 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 CATACTTCAGCTTGGGTTCCT 0.418 87 146 --- --- --- --- PASS H2AFV 94239 broad.mit.edu 37 7 44875239 44875239 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:44875239T>C uc003tma.2 - 4 369 c.214A>G c.(214-216)AAT>GAT p.N72D H2AFV_uc003tlz.2_Missense_Mutation_p.N72D|H2AFV_uc011kca.1_5'Flank|H2AFV_uc003tmb.2_Missense_Mutation_p.N34D|H2AFV_uc003tmc.2_Intron|H2AFV_uc003tmd.2_Missense_Mutation_p.N46D NM_012412 NP_036544 Q71UI9 H2AV_HUMAN H2A histone family, member V isoform 1 72 nucleosome assembly nucleosome|nucleus DNA binding 0 TTAGAAGCATTACCTGCCAGC 0.433 12 94 --- --- --- --- PASS TNS3 64759 broad.mit.edu 37 7 47454736 47454736 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:47454736T>C uc003tnv.2 - 11 909 c.542A>G c.(541-543)CAT>CGT p.H181R TNS3_uc003tnw.2_Missense_Mutation_p.H181R|TNS3_uc010kyo.1_Missense_Mutation_p.H181R NM_022748 NP_073585 Q68CZ2 TENS3_HUMAN tensin 3 181 C2 tensin-type. focal adhesion protein binding ovary(4) 4 GATGACAAAATGCAGGAACAG 0.567 17 66 --- --- --- --- PASS COBL 23242 broad.mit.edu 37 7 51111274 51111274 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:51111274G>A uc003tpr.3 - 8 1397 c.1212C>T c.(1210-1212)ACC>ACT p.T404T COBL_uc003tps.2_Silent_p.T461T|COBL_uc011kcl.1_Silent_p.T404T|COBL_uc010kzc.2_Silent_p.T404T|COBL_uc003tpp.3_Silent_p.T190T|COBL_uc003tpq.3_Silent_p.T345T NM_015198 NP_056013 O75128 COBL_HUMAN cordon-bleu homolog 404 skin(3)|ovary(2) 5 Glioma(55;0.08) CTGAGTCCTCGGTCGTGTCCT 0.602 10 127 --- --- --- --- PASS ZNF479 90827 broad.mit.edu 37 7 57194380 57194380 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:57194380C>A uc010kzo.2 - 3 356 c.85G>T c.(85-87)GAA>TAA p.E29* NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E29K(1) ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CATTGCCATTCCTCCAGAGAG 0.438 41 124 --- --- --- --- PASS ZNF107 51427 broad.mit.edu 37 7 64166913 64166913 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:64166913G>T uc003ttd.2 + 7 1017 c.231G>T c.(229-231)CAG>CAT p.Q77H ZNF107_uc003tte.2_Missense_Mutation_p.Q77H NM_016220 NP_057304 Q9UII5 ZN107_HUMAN zinc finger protein 107 77 C2H2-type 1; atypical. 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) AAATATTCCAGTGTAATAAAT 0.333 3 97 --- --- --- --- PASS PCLO 27445 broad.mit.edu 37 7 82784768 82784768 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:82784768C>A uc003uhx.2 - 2 1478 c.1189G>T c.(1189-1191)GTT>TTT p.V397F PCLO_uc003uhv.2_Missense_Mutation_p.V397F NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GTCTTTCCAACTCCAGGAGGC 0.587 109 124 --- --- --- --- PASS MGC26647 219557 broad.mit.edu 37 7 88424072 88424072 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:88424072C>A uc003ujv.2 - 2 367 c.185G>T c.(184-186)AGA>ATA p.R62I ZNF804B_uc011khi.1_Intron NM_152706 NP_689919 Q8TBZ9 CG062_HUMAN hypothetical protein LOC219557 62 0 Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169) STAD - Stomach adenocarcinoma(171;0.229) AACATCTTTTCTTTCTACATT 0.388 111 165 --- --- --- --- PASS SLC26A3 1811 broad.mit.edu 37 7 107430025 107430025 + Nonsense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:107430025T>A uc003ver.2 - 6 890 c.679A>T c.(679-681)AAA>TAA p.K227* SLC26A3_uc003ves.2_Nonsense_Mutation_p.K192* NM_000111 NP_000102 P40879 S26A3_HUMAN solute carrier family 26, member 3 227 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(3)|skin(1) 4 AAAATGAATTTGAGTTGGGAA 0.388 25 84 --- --- --- --- PASS PPP1R3A 5506 broad.mit.edu 37 7 113519605 113519605 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:113519605A>G uc010ljy.1 - 4 1573 c.1542T>C c.(1540-1542)GGT>GGC p.G514G NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 514 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 CATCATCCTTACCATTGCCAT 0.338 36 104 --- --- --- --- PASS KCND2 3751 broad.mit.edu 37 7 119915681 119915681 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:119915681C>T uc003vjj.1 + 1 1960 c.995C>T c.(994-996)ACC>ATC p.T332I NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 332 Helical; Name=Segment S5; (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) TTCTCGCTCACCATGGCTATC 0.507 89 105 --- --- --- --- PASS HYAL4 23553 broad.mit.edu 37 7 123517197 123517197 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:123517197C>T uc003vlc.2 + 5 2072 c.1434C>T c.(1432-1434)AGC>AGT p.S478S HYAL4_uc011knz.1_3'UTR NM_012269 NP_036401 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 478 Cytoplasmic (Potential). fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity skin(1) 1 GTTATCGAAGCATTCAGTTGT 0.383 81 153 --- --- --- --- PASS LRGUK 136332 broad.mit.edu 37 7 133876430 133876430 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:133876430C>A uc003vrm.1 + 12 1374 c.1358C>A c.(1357-1359)CCT>CAT p.P453H NM_144648 NP_653249 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain 453 Guanylate kinase-like. ATP binding|kinase activity lung(2)|skin(2)|kidney(1) 5 ACAAGACCACCTTACTTTGGA 0.338 4 215 --- --- --- --- PASS SLC37A3 84255 broad.mit.edu 37 7 140051150 140051150 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:140051150T>C uc003vvo.2 - 9 971 c.805A>G c.(805-807)ATC>GTC p.I269V SLC37A3_uc003vvp.2_Missense_Mutation_p.I269V|SLC37A3_uc010lnh.2_Missense_Mutation_p.I269V|SLC37A3_uc011kqz.1_RNA|SLC37A3_uc011kra.1_3'UTR|SLC37A3_uc011krb.1_3'UTR NM_207113 NP_996996 Q8NCC5 SPX3_HUMAN solute carrier family 37 (glycerol-3-phosphate 269 carbohydrate transport|transmembrane transport integral to membrane ovary(3) 3 Melanoma(164;0.0142) TCATCTTGGATTGAATAATTC 0.438 101 122 --- --- --- --- PASS ZNF786 136051 broad.mit.edu 37 7 148768904 148768904 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:148768904C>A uc003wfh.2 - 4 1097 c.960G>T c.(958-960)CGG>CGT p.R320R ZNF786_uc011kuk.1_Silent_p.R283R|ZNF786_uc003wfi.2_Silent_p.R234R NM_152411 NP_689624 Q8N393 ZN786_HUMAN zinc finger protein 786 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|skin(1) 4 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) CCGGCCCCTCCCGGCTGTGCT 0.721 6 15 --- --- --- --- PASS ASB10 136371 broad.mit.edu 37 7 150873210 150873210 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:150873210C>A uc003wjm.1 - 5 1654 c.1528G>T c.(1528-1530)GTG>TTG p.V510L ASB10_uc003wjl.1_Missense_Mutation_p.V472L|ASB10_uc003wjn.1_Missense_Mutation_p.V450L NM_001142459 NP_001135931 Q8WXI3 ASB10_HUMAN ankyrin repeat and SOCS box-containing 10 465 intracellular signal transduction 0 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TAGTAGAGCACGCCCTCAAAA 0.672 20 27 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154561232 154561232 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:154561232C>A uc003wlk.2 + 9 1118 c.989C>A c.(988-990)ACT>AAT p.T330N DPP6_uc003wli.2_Missense_Mutation_p.T266N|DPP6_uc003wlm.2_Missense_Mutation_p.T268N|DPP6_uc011kvq.1_Missense_Mutation_p.T223N NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 330 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) GAGCTCCCAACTTACACCGGC 0.527 49 32 --- --- --- --- PASS DPP6 1804 broad.mit.edu 37 7 154672604 154672604 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr7:154672604G>T uc003wlk.2 + 21 2214 c.2085G>T c.(2083-2085)ATG>ATT p.M695I DPP6_uc003wli.2_Missense_Mutation_p.M631I|DPP6_uc003wlm.2_Missense_Mutation_p.M633I|DPP6_uc011kvq.1_Missense_Mutation_p.M588I NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 695 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) ACAGGACGATGCTGAAGGAGC 0.562 16 117 --- --- --- --- PASS TNKS 8658 broad.mit.edu 37 8 9605566 9605566 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:9605566C>T uc003wss.2 + 18 2681 c.2676C>T c.(2674-2676)TAC>TAT p.Y892Y TNKS_uc011kww.1_Silent_p.Y655Y|TNKS_uc010lrt.1_RNA NM_003747 NP_003738 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related 892 ANK 14. mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding lung(4)|ovary(2)|kidney(1) 7 COAD - Colon adenocarcinoma(149;0.0467) TGATAAAATACAACACGTGTG 0.438 56 87 --- --- --- --- PASS RP1L1 94137 broad.mit.edu 37 8 10470776 10470776 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:10470776G>T uc003wtc.2 - 4 1061 c.832C>A c.(832-834)CCT>ACT p.P278T NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 278 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) CTAGGACCAGGCCTTTCTGGC 0.667 47 56 --- --- --- --- PASS SLC18A1 6570 broad.mit.edu 37 8 20004839 20004839 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:20004839C>A uc011kyq.1 - 16 1865 c.1394G>T c.(1393-1395)GGG>GTG p.G465V SLC18A1_uc003wzl.2_Missense_Mutation_p.G252V|SLC18A1_uc003wzm.2_Missense_Mutation_p.G465V|SLC18A1_uc011kyr.1_Intron|SLC18A1_uc003wzn.2_Missense_Mutation_p.G433V|SLC18A1_uc010ltf.2_RNA|SLC18A1_uc003wzo.2_Missense_Mutation_p.G433V NM_001135691 NP_001129163 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine), 465 Helical; (Potential). neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity ovary(2) 2 Colorectal(74;0.0747) GTTGATGACCCCAGTGATGAC 0.512 31 42 --- --- --- --- PASS PNOC 5368 broad.mit.edu 37 8 28196728 28196728 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:28196728C>G uc010lva.2 + 3 506 c.298C>G c.(298-300)CGA>GGA p.R100G PNOC_uc003xgp.2_Missense_Mutation_p.R100G|PNOC_uc011lau.1_Missense_Mutation_p.R36G NM_006228 NP_006219 Q13519 PNOC_HUMAN prepronociceptin precursor 100 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1) 1 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) GCGAATGCCCCGAGTCCGGAG 0.632 29 30 --- --- --- --- PASS PNOC 5368 broad.mit.edu 37 8 28196729 28196729 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:28196729G>A uc010lva.2 + 3 507 c.299G>A c.(298-300)CGA>CAA p.R100Q PNOC_uc003xgp.2_Missense_Mutation_p.R100Q|PNOC_uc011lau.1_Missense_Mutation_p.R36Q NM_006228 NP_006219 Q13519 PNOC_HUMAN prepronociceptin precursor 100 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1) 1 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) CGAATGCCCCGAGTCCGGAGC 0.632 31 30 --- --- --- --- PASS CHRNA6 8973 broad.mit.edu 37 8 42612075 42612075 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:42612075T>C uc003xpj.2 - 4 416 c.370A>G c.(370-372)AAC>GAC p.N124D CHRNA6_uc011lcw.1_Missense_Mutation_p.N109D NM_004198 NP_004189 Q15825 ACHA6_HUMAN cholinergic receptor, nicotinic, alpha 6 124 Extracellular. cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity 0 all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869) CCATACTTGTTATAGAGAACA 0.448 10 111 --- --- --- --- PASS FNTA 2339 broad.mit.edu 37 8 42924730 42924730 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:42924730A>T uc003xps.2 + 4 482 c.434A>T c.(433-435)CAG>CTG p.Q145L FNTA_uc003xpt.2_Missense_Mutation_p.Q54L|FNTA_uc003xpu.2_Missense_Mutation_p.Q78L|FNTA_uc003xpv.2_RNA NM_002027 NP_002018 P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha isoform a 145 PFTA 1. cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity ovary(1) 1 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AAGTCACTTCAGAAGGATCTA 0.333 6 90 --- --- --- --- PASS SNTG1 54212 broad.mit.edu 37 8 51465633 51465633 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:51465633C>A uc010lxy.1 + 13 1075 c.704C>A c.(703-705)GCT>GAT p.A235D SNTG1_uc003xqs.1_Missense_Mutation_p.A235D|SNTG1_uc010lxz.1_Missense_Mutation_p.A235D|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 235 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) CAAGTCATTGCTGTGGATGGG 0.423 12 87 --- --- --- --- PASS PXDNL 137902 broad.mit.edu 37 8 52366272 52366272 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:52366272C>A uc003xqu.3 - 10 1157 c.1056G>T c.(1054-1056)ATG>ATT p.M352I NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 352 Ig-like C2-type 2. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGCCTGTGGCCATACATTCCA 0.502 3 70 --- --- --- --- PASS TRIM55 84675 broad.mit.edu 37 8 67040638 67040638 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:67040638C>T uc003xvv.2 + 2 494 c.268C>T c.(268-270)CAT>TAT p.H90Y TRIM55_uc003xvu.2_Missense_Mutation_p.H90Y|TRIM55_uc003xvw.2_Missense_Mutation_p.H90Y|TRIM55_uc003xvx.2_Missense_Mutation_p.H90Y NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN tripartite motif-containing 55 isoform 1 90 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) TTTGGATAGACATGGGGTATA 0.507 49 200 --- --- --- --- PASS PREX2 80243 broad.mit.edu 37 8 68956792 68956792 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:68956792G>T uc003xxv.1 + 8 937 c.910G>T c.(910-912)GTG>TTG p.V304L PREX2_uc003xxu.1_Missense_Mutation_p.V304L|PREX2_uc011lez.1_Missense_Mutation_p.V239L NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 304 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CAACACGGAGGTGATGGAAGT 0.408 29 77 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77767351 77767351 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:77767351T>A uc003yav.2 + 10 8446 c.8059T>A c.(8059-8061)TAC>AAC p.Y2687N ZFHX4_uc003yau.1_Missense_Mutation_p.Y2732N|ZFHX4_uc003yaw.1_Missense_Mutation_p.Y2687N NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2687 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTATTTTGATTACCCATCTTT 0.423 HNSCC(33;0.089) 12 38 --- --- --- --- PASS ZFHX4 79776 broad.mit.edu 37 8 77768456 77768456 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:77768456G>T uc003yav.2 + 10 9551 c.9164G>T c.(9163-9165)GGA>GTA p.G3055V ZFHX4_uc003yau.1_Missense_Mutation_p.G3100V|ZFHX4_uc003yaw.1_Missense_Mutation_p.G3055V NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3055 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) GCCTACCCCGGACTCCCCGGC 0.542 HNSCC(33;0.089) 40 65 --- --- --- --- PASS SLC10A5 347051 broad.mit.edu 37 8 82606863 82606863 + Silent SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:82606863A>T uc011lfs.1 - 1 345 c.345T>A c.(343-345)ATT>ATA p.I115I NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 115 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity 0 TGATTTCTTCAATGAGTCTTT 0.358 69 103 --- --- --- --- PASS RALYL 138046 broad.mit.edu 37 8 85686874 85686874 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:85686874T>C uc003ycq.3 + 4 733 c.317T>C c.(316-318)CTT>CCT p.L106P RALYL_uc003ycr.3_Missense_Mutation_p.L106P|RALYL_uc003ycs.3_Missense_Mutation_p.L106P|RALYL_uc010lzy.2_Missense_Mutation_p.L106P|RALYL_uc003yct.3_Missense_Mutation_p.L119P|RALYL_uc003ycu.3_Missense_Mutation_p.L33P|RALYL_uc003ycv.3_Missense_Mutation_p.L18P NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 106 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 AAGAGGCCCCTTTCTGCACTT 0.358 13 34 --- --- --- --- PASS CNGB3 54714 broad.mit.edu 37 8 87738769 87738769 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:87738769C>G uc003ydx.2 - 3 374 c.328G>C c.(328-330)GGT>CGT p.G110R NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 110 Cytoplasmic (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 CTGTTTGGACCTTCTTTCCCG 0.453 73 255 --- --- --- --- PASS RIMS2 9699 broad.mit.edu 37 8 105080743 105080743 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:105080743C>A uc003yls.2 + 20 2865 c.2624C>A c.(2623-2625)ACT>AAT p.T875N RIMS2_uc003ylp.2_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.T948N|RIMS2_uc003ylq.2_Intron|RIMS2_uc003ylr.2_Intron NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) TCGATAGGTACTATGGATATA 0.378 HNSCC(12;0.0054) 6 11 --- --- --- --- PASS TM7SF4 81501 broad.mit.edu 37 8 105367345 105367345 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:105367345C>T uc003ylx.1 + 3 1319 c.1270C>T c.(1270-1272)CTG>TTG p.L424L NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 424 Cytoplasmic. osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GCATGCAAAGCTGCTTAAAAA 0.463 23 125 --- --- --- --- PASS EIF3E 3646 broad.mit.edu 37 8 109241385 109241385 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:109241385C>T uc003ymu.2 - 6 539 c.511G>A c.(511-513)GGA>AGA p.G171R EIF3E_uc003ymt.2_Missense_Mutation_p.G122R|EIF3E_uc003ymv.2_Missense_Mutation_p.G78R|EIF3E_uc010mci.1_Missense_Mutation_p.G171R NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 171 Sufficient for interaction with TRIM27. negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GCCAGCTTTCCCCAGAGTGAA 0.348 34 151 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110439245 110439245 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:110439245G>C uc003yne.2 + 25 2964 c.2860G>C c.(2860-2862)GTG>CTG p.V954L NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 954 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CCCCGCTGCTGTGTCAGCTGC 0.453 HNSCC(38;0.096) 80 110 --- --- --- --- PASS PKHD1L1 93035 broad.mit.edu 37 8 110520439 110520439 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:110520439C>A uc003yne.2 + 70 11445 c.11341C>A c.(11341-11343)CGA>AGA p.R3781R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3781 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CACAGAAACTCGAAGACTTTC 0.393 HNSCC(38;0.096) 4 246 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113275908 113275908 + Silent SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:113275908T>C uc003ynu.2 - 61 9981 c.9822A>G c.(9820-9822)GTA>GTG p.V3274V CSMD3_uc003yns.2_Silent_p.V2476V|CSMD3_uc003ynt.2_Silent_p.V3234V|CSMD3_uc011lhx.1_Silent_p.V3105V NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3274 Sushi 25.|Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 TACCATTCCCTACACAGGTCA 0.408 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 76 --- --- --- --- PASS CSMD3 114788 broad.mit.edu 37 8 113293450 113293450 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:113293450T>A uc003ynu.2 - 59 9620 c.9461A>T c.(9460-9462)CAG>CTG p.Q3154L CSMD3_uc003yns.2_Missense_Mutation_p.Q2356L|CSMD3_uc003ynt.2_Missense_Mutation_p.Q3114L|CSMD3_uc011lhx.1_Missense_Mutation_p.Q2985L NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3154 Extracellular (Potential).|Sushi 23. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 GGCTGTGCACTGTCTAACTGA 0.368 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 127 --- --- --- --- PASS ASAP1 50807 broad.mit.edu 37 8 131226848 131226848 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:131226848T>G uc003yta.1 - 4 387 c.359A>C c.(358-360)AAG>ACG p.K120T ASAP1_uc011liw.1_Missense_Mutation_p.K113T NM_018482 NP_060952 Q9ULH1 ASAP1_HUMAN development and differentiation enhancing factor 120 cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding ovary(4) 4 AGTAGAAAACTTGACAAACGC 0.368 47 85 --- --- --- --- PASS TMEM71 137835 broad.mit.edu 37 8 133764104 133764104 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:133764104G>C uc003ytp.2 - 4 470 c.241C>G c.(241-243)CTG>GTG p.L81V TMEM71_uc003ytn.2_Missense_Mutation_p.L81V|TMEM71_uc003yto.2_Missense_Mutation_p.L81V NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 81 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) TTGTCGCACAGGAAGCTGTCT 0.473 41 146 --- --- --- --- PASS COL22A1 169044 broad.mit.edu 37 8 139614365 139614365 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:139614365C>G uc003yvd.2 - 60 4625 c.4178G>C c.(4177-4179)GGA>GCA p.G1393A COL22A1_uc011ljo.1_Missense_Mutation_p.G673A NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1393 Pro-rich.|Gly-rich.|Collagen-like 14. 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) CACCCTTTCTCCTTTGAATCC 0.587 HNSCC(7;0.00092) 18 89 --- --- --- --- PASS MAPK15 225689 broad.mit.edu 37 8 144803248 144803248 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:144803248G>A uc003yzj.2 + 10 1037 c.996G>A c.(994-996)GTG>GTA p.V332V NM_139021 NP_620590 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 332 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding lung(2) 2 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGCTCTCTGTGCCTGAGTACC 0.662 6 16 --- --- --- --- PASS ZNF16 7564 broad.mit.edu 37 8 146157623 146157623 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:146157623C>T uc003zet.2 - 4 737 c.550G>A c.(550-552)GAC>AAC p.D184N ZNF16_uc003zeu.2_Missense_Mutation_p.D184N NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) CCACCCATGTCATATGGATGT 0.493 107 197 --- --- --- --- PASS IFNA14 3448 broad.mit.edu 37 9 21239831 21239831 + Missense_Mutation SNP C T T rs149155133 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:21239831C>T uc010mis.2 - 1 148 c.104G>A c.(103-105)AGG>AAG p.R35K IFNA14_uc003zoo.1_RNA NM_002172 NP_002163 P01570 IFN14_HUMAN interferon, alpha 14 precursor 35 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding 0 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAAAGTCCTCCTGTTATTCAG 0.493 55 79 --- --- --- --- PASS CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C A A rs121913381 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:21971036C>A uc003zpk.2 - 2 534 c.322G>T c.(322-324)GAT>TAT p.D108Y MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.R163L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 108 D -> Y (in a head and neck tumor).|D -> H (in a bladder tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.D108Y(14)|p.?(13)|p.D108H(9)|p.D108N(5)|p.H83fs*2(2)|p.D105fs*8(1)|p.A68fs*3(1)|p.R107fs*33(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 15 6 --- --- --- --- PASS TESK1 7016 broad.mit.edu 37 9 35609124 35609124 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:35609124G>A uc003zxa.2 + 10 1602 c.1266G>A c.(1264-1266)CCG>CCA p.P422P TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.P262P NM_006285 NP_006276 Q15569 TESK1_HUMAN testis-specific protein kinase 1 422 cell junction assembly|spermatogenesis cytosol ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1) 7 Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGACCACTCCGGAGACCCTGG 0.637 4 152 --- --- --- --- PASS FRMPD1 22844 broad.mit.edu 37 9 37740469 37740469 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:37740469C>T uc004aag.1 + 15 1988 c.1944C>T c.(1942-1944)AGC>AGT p.S648S FRMPD1_uc004aah.1_Silent_p.S648S|FRMPD1_uc011lqm.1_Silent_p.S470S|FRMPD1_uc011lqn.1_Silent_p.S517S NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 648 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) AGGAGAGAAGCGGGATTGAAA 0.572 23 22 --- --- --- --- PASS ECM2 1842 broad.mit.edu 37 9 95279975 95279975 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:95279975C>A uc004ash.2 - 3 540 c.475G>T c.(475-477)GCT>TCT p.A159S CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|ECM2_uc004asf.3_Missense_Mutation_p.A159S|ECM2_uc011lty.1_Missense_Mutation_p.A159S|ECM2_uc004asg.2_Missense_Mutation_p.A159S|ECM2_uc011ltz.1_Missense_Mutation_p.A159S|ECM2_uc004asi.2_Missense_Mutation_p.A159S NM_001393 NP_001384 O94769 ECM2_HUMAN extracellular matrix protein 2 precursor 159 cell-matrix adhesion integrin binding ovary(1)|skin(1) 2 GTACCAGTAGCGGAGCAGACC 0.403 113 322 --- --- --- --- PASS CYLC2 1539 broad.mit.edu 37 9 105765446 105765446 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:105765446A>G uc004bbs.2 + 3 151 c.81A>G c.(79-81)TCA>TCG p.S27S NM_001340 NP_001331 Q14093 CYLC2_HUMAN cylicin 2 27 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton skin(1) 1 all_hematologic(171;0.125) GCAAAAAATCATGGAATCAGC 0.403 42 118 --- --- --- --- PASS SLC46A2 57864 broad.mit.edu 37 9 115652553 115652553 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:115652553A>G uc004bgk.2 - 1 641 c.409T>C c.(409-411)TAC>CAC p.Y137H NM_033051 NP_149040 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 137 Extracellular (Potential). integral to membrane|plasma membrane symporter activity central_nervous_system(1) 1 GCCGCCCCGTACAGCACCTCC 0.687 7 31 --- --- --- --- PASS ASTN2 23245 broad.mit.edu 37 9 119976961 119976961 + Nonsense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:119976961G>A uc004bjs.1 - 3 792 c.691C>T c.(691-693)CGA>TGA p.R231* ASTN2_uc004bjr.1_Nonsense_Mutation_p.R231*|ASTN2_uc004bjt.1_Nonsense_Mutation_p.R231* NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 231 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 TGCCAACGTCGCTGGGCGTAC 0.622 21 50 --- --- --- --- PASS MRRF 92399 broad.mit.edu 37 9 125047469 125047469 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:125047469T>C uc004bmb.2 + 4 477 c.362T>C c.(361-363)GTG>GCG p.V121A MRRF_uc004bmc.2_Missense_Mutation_p.V121A|MRRF_uc011lyq.1_Missense_Mutation_p.V142A|MRRF_uc010mvz.1_RNA|MRRF_uc010mwa.2_Missense_Mutation_p.V121A|MRRF_uc011lyr.1_Missense_Mutation_p.V69A|MRRF_uc004bmd.2_Missense_Mutation_p.V121A|MRRF_uc004bme.2_RNA NM_138777 NP_620132 Q96E11 RRFM_HUMAN mitochondrial ribosome recycling factor isoform 121 ribosome disassembly|translation mitochondrion sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 AAGATTGCTGTGGTAACTGCT 0.308 36 69 --- --- --- --- PASS C9orf96 169436 broad.mit.edu 37 9 136270036 136270036 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:136270036T>C uc004cdk.2 + 17 1917 c.1856T>C c.(1855-1857)GTC>GCC p.V619A C9orf96_uc004cdl.2_RNA NM_153710 NP_714921 Q8NE28 SGK71_HUMAN hypothetical protein LOC169436 619 ATP binding|protein kinase activity stomach(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) ATGCTGCTGGTCCACCTGGCT 0.637 30 220 --- --- --- --- PASS NELF 26012 broad.mit.edu 37 9 140351966 140351966 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr9:140351966G>A uc004cna.2 - 3 753 c.521C>T c.(520-522)GCT>GTT p.A174V C9orf167_uc011mew.1_Intron|NELF_uc011mex.1_5'Flank|NELF_uc010nci.2_5'Flank|NELF_uc011mey.1_RNA|NELF_uc011mez.1_Missense_Mutation_p.A174V|NELF_uc004cmz.2_Missense_Mutation_p.A174V|NELF_uc004cnc.2_Missense_Mutation_p.A174V|NELF_uc004cnb.2_Missense_Mutation_p.A174V NM_001130969 NP_001124441 Q6X4W1 NELF_HUMAN nasal embryonic LHRH factor isoform a 174 nucleus|plasma membrane 0 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888) GGGGCCAGGAGCCAGCTGGGC 0.706 15 8 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15573047 15573047 + Splice_Site SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:15573047A>T uc001ioc.1 - 28 2982 c.2982_splice c.e28+1 p.A994_splice ITGA8_uc010qcb.1_Splice_Site_p.V979_splice NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 AAAGATACTCACTACTATGCT 0.348 50 79 --- --- --- --- PASS ITGA8 8516 broad.mit.edu 37 10 15702878 15702878 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:15702878A>G uc001ioc.1 - 9 891 c.891T>C c.(889-891)TAT>TAC p.Y297Y ITGA8_uc010qcb.1_Silent_p.Y282Y NM_003638 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 precursor 297 Extracellular (Potential).|FG-GAP 4. cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity ovary(3)|lung(3) 6 CAGTACTCACATATCCAAAAT 0.239 33 59 --- --- --- --- PASS PTPLA 9200 broad.mit.edu 37 10 17636217 17636217 + Silent SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:17636217T>C uc001ipg.2 - 6 806 c.771A>G c.(769-771)GCA>GCG p.A257A NM_014241 NP_055056 B0YJ81 HACD1_HUMAN protein tyrosine phosphatase-like, member A 257 Helical; (Potential). fatty acid biosynthetic process|multicellular organismal development|signal transduction endoplasmic reticulum membrane|integral to membrane lyase activity|protein tyrosine phosphatase activity central_nervous_system(1)|skin(1) 2 GTATATATGATGCCATGGTTA 0.289 26 115 --- --- --- --- PASS ANUBL1 93550 broad.mit.edu 37 10 46147483 46147483 + Splice_Site SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:46147483T>C uc001jcp.3 - 4 503 c.261_splice c.e4-1 p.N87_splice ANUBL1_uc001jcm.3_Splice_Site_p.N87_splice|ANUBL1_uc009xmu.2_Splice_Site_p.N13_splice|ANUBL1_uc001jcn.3_Splice_Site_p.N13_splice|ANUBL1_uc001jco.3_Splice_Site_p.N87_splice|ANUBL1_uc001jcq.2_Splice_Site|ANUBL1_uc001jcr.2_Splice_Site_p.N87_splice NM_001128324 NP_001121796 Q86XD8 ANUB1_HUMAN AN1, ubiquitin-like, homolog zinc ion binding 0 TCTGAAATGCTGTGGATAGTT 0.363 42 28 --- --- --- --- PASS RBP3 5949 broad.mit.edu 37 10 48388747 48388747 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:48388747C>T uc001jez.2 - 1 2245 c.2131G>A c.(2131-2133)GAG>AAG p.E711K NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 711 4 X approximate tandem repeats.|3. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GGTGCTTCCTCTACCACCAGC 0.632 27 29 --- --- --- --- PASS C10orf72 196740 broad.mit.edu 37 10 50227712 50227712 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:50227712C>A uc001jhf.2 - 8 975 c.946G>T c.(946-948)GAG>TAG p.E316* NM_001031746 NP_001026916 Q8IW00 CJ072_HUMAN hypothetical protein LOC196740 isoform 1 316 Cytoplasmic (Potential). integral to membrane|plasma membrane 0 TTGTTCTCCTCGAAGAGGATC 0.522 39 52 --- --- --- --- PASS PRKG1 5592 broad.mit.edu 37 10 52751280 52751280 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:52751280C>G uc001jjm.2 + 1 336 c.142C>G c.(142-144)CCA>GCA p.P48A PRKG1_uc010qhp.1_Missense_Mutation_p.P48A NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 48 Dimerization. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) GTCGGTGCTCCCAGTGCCCTC 0.612 6 5 --- --- --- --- PASS DUPD1 338599 broad.mit.edu 37 10 76818229 76818229 + Nonsense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:76818229G>T uc001jwq.1 - 1 44 c.44C>A c.(43-45)TCA>TAA p.S15* NM_001003892 NP_001003892 Q68J44 DUPD1_HUMAN dual specificity phosphatase and pro isomerase 15 cytoplasm protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2) 2 all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348) CTTGGCAGATGAGTAGGCATT 0.537 32 33 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87484343 87484343 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:87484343C>T uc001kdl.1 - 11 1725 c.1624G>A c.(1624-1626)GGG>AGG p.G542R GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.G113R NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 542 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ATTAGAATCCCCACTGAATAG 0.517 Multiple Myeloma(13;0.14) 46 61 --- --- --- --- PASS WAPAL 23063 broad.mit.edu 37 10 88197313 88197313 + Missense_Mutation SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:88197313A>C uc001kdo.2 - 19 4002 c.3560T>G c.(3559-3561)TTG>TGG p.L1187W WAPAL_uc009xsv.2_Missense_Mutation_p.L446W|WAPAL_uc001kdn.2_Missense_Mutation_p.L1224W|WAPAL_uc009xsw.2_Missense_Mutation_p.L1181W NM_015045 NP_055860 Q7Z5K2 WAPL_HUMAN wings apart-like homolog 1187 cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin chromatin|cohesin complex|cytoplasm protein binding ovary(1) 1 GCAATGTTCCAAATATTCAAT 0.408 33 45 --- --- --- --- PASS PKD2L1 9033 broad.mit.edu 37 10 102052796 102052796 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:102052796G>T uc001kqx.1 - 11 2172 c.1789C>A c.(1789-1791)CTG>ATG p.L597M PKD2L1_uc009xwm.1_Missense_Mutation_p.L550M NM_016112 NP_057196 Q9P0L9 PK2L1_HUMAN polycystic kidney disease 2-like 1 597 Cytoplasmic (Potential). signal transduction integral to membrane calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding ovary(4) 4 Colorectal(252;0.117) Epithelial(162;6.15e-10)|all cancers(201;5.14e-08) TCCTTCCTCAGACGCAGTCTT 0.552 54 56 --- --- --- --- PASS CNNM2 54805 broad.mit.edu 37 10 104678750 104678750 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:104678750C>T uc001kwm.2 + 1 637 c.513C>T c.(511-513)GGC>GGT p.G171G CNNM2_uc001kwn.2_Silent_p.G171G|CNNM2_uc001kwl.2_Silent_p.G171G NM_017649 NP_060119 Q9H8M5 CNNM2_HUMAN cyclin M2 isoform 1 171 ion transport integral to membrane ovary(1)|central_nervous_system(1) 2 Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198) Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) GCACCTCGGGCATCATCGAGA 0.592 81 118 --- --- --- --- PASS GPR123 84435 broad.mit.edu 37 10 134886386 134886386 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:134886386A>G uc001llw.2 + 3 420 c.420A>G c.(418-420)GCA>GCG p.A140A Q86SQ6 GP123_HUMAN RecName: Full=Probable G-protein coupled receptor 123; Error:Variant_position_missing_in_Q86SQ6_after_alignment integral to membrane|plasma membrane G-protein coupled receptor activity 0 all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05) GCGGCCGTGCAGATGGGAAGG 0.592 7 8 --- --- --- --- PASS MUC6 4588 broad.mit.edu 37 11 1024909 1024909 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:1024909G>A uc001lsw.2 - 24 3211 c.3160C>T c.(3160-3162)CGC>TGC p.R1054C NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1054 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|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;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCCCAGGAGCGCCGGAAGGCA 0.662 13 43 --- --- --- --- PASS STIM1 6786 broad.mit.edu 37 11 4091374 4091374 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:4091374G>T uc001lyv.2 + 6 1300 c.732G>T c.(730-732)ATG>ATT p.M244I STIM1_uc009yef.2_Missense_Mutation_p.M244I|STIM1_uc009yeg.2_Missense_Mutation_p.M71I NM_003156 NP_003147 Q13586 STIM1_HUMAN stromal interaction molecule 1 precursor 244 Cytoplasmic (Potential). activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule calcium ion binding|microtubule plus-end binding pancreas(1) 1 Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233) BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141) TGAAGAAGATGATGAAGGACT 0.527 4 127 --- --- --- --- PASS OR51T1 401665 broad.mit.edu 37 11 4903906 4903906 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:4903906C>T uc010qyp.1 + 1 858 c.858C>T c.(856-858)AGC>AGT p.S286S NM_001004759 NP_001004759 Q8NGJ9 O51T1_HUMAN olfactory receptor, family 51, subfamily T, 259 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|large_intestine(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) CACTGATCAGCCTCTCTTTGG 0.498 24 88 --- --- --- --- PASS OR51G1 79324 broad.mit.edu 37 11 4945280 4945280 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:4945280G>T uc010qyr.1 - 1 290 c.290C>A c.(289-291)CCT>CAT p.P97H NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) GAAACAGGCAGGGATGCCAAT 0.502 28 61 --- --- --- --- PASS OR51G1 79324 broad.mit.edu 37 11 4945281 4945281 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:4945281G>T uc010qyr.1 - 1 289 c.289C>A c.(289-291)CCT>ACT p.P97T NM_001005237 NP_001005237 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, 97 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AAACAGGCAGGGATGCCAATC 0.498 28 61 --- --- --- --- PASS MMP26 56547 broad.mit.edu 37 11 5012677 5012677 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:5012677T>A uc001lzv.2 + 4 564 c.546T>A c.(544-546)CCT>CCA p.P182P NM_021801 NP_068573 Q9NRE1 MMP26_HUMAN matrix metalloproteinase 26 preproprotein 182 collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227) Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191) CTGGAAATCCTGGAGTTGTCC 0.483 109 158 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023408 6023408 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:6023408G>C uc010qzv.1 - 1 971 c.971C>G c.(970-972)CCT>CGT p.P324R NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 272 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GACATCTGGAGGAATTCTCTT 0.527 12 50 --- --- --- --- PASS STK33 65975 broad.mit.edu 37 11 8494723 8494723 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:8494723C>A uc001mgi.1 - 2 1245 c.326G>T c.(325-327)GGA>GTA p.G109V STK33_uc001mgj.1_Missense_Mutation_p.G109V|STK33_uc001mgk.1_Missense_Mutation_p.G109V|STK33_uc010rbn.1_Missense_Mutation_p.G68V|STK33_uc001mgl.3_Intron|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 109 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) AATAGCAGCTCCATTCTCAAT 0.378 92 175 --- --- --- --- PASS MICALCL 84953 broad.mit.edu 37 11 12315632 12315632 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:12315632T>A uc001mkg.1 + 3 945 c.654T>A c.(652-654)GGT>GGA p.G218G NM_032867 NP_116256 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 218 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding skin(1) 1 Epithelial(150;0.00177) CTGAGAATGGTAGAGGAGGCC 0.577 37 82 --- --- --- --- PASS SOX6 55553 broad.mit.edu 37 11 16010543 16010543 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:16010543C>A uc001mme.2 - 14 2038 c.2005G>T c.(2005-2007)GGA>TGA p.G669* SOX6_uc001mmd.2_Nonsense_Mutation_p.G632*|SOX6_uc001mmf.2_Nonsense_Mutation_p.G629*|SOX6_uc001mmg.2_Nonsense_Mutation_p.G636* NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 656 HMG box. muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 CTGCACTCACCTAAGATTTTG 0.493 OREG0020800 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 42 141 --- --- --- --- PASS NUCB2 4925 broad.mit.edu 37 11 17331130 17331130 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:17331130G>A uc001mmw.2 + 6 636 c.391G>A c.(391-393)GAC>AAC p.D131N NUCB2_uc001mms.1_Missense_Mutation_p.D132N|NUCB2_uc001mmt.1_Missense_Mutation_p.D131N|NUCB2_uc001mmv.1_Missense_Mutation_p.D131N|NUCB2_uc009ygz.2_Missense_Mutation_p.D131N NM_005013 NP_005004 P80303 NUCB2_HUMAN nucleobindin 2 precursor 131 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding 0 TATAGGCATGGACCACCAAGC 0.308 55 237 --- --- --- --- PASS FANCF 2188 broad.mit.edu 37 11 22646492 22646492 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:22646492G>T uc001mql.1 - 1 896 c.865C>A c.(865-867)CTT>ATT p.L289I NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 289 L->A: Strongly reduced monoubiquitination of FANCD2; when associated with A-287; A- 339; A-341 and A-344. DNA repair nucleoplasm protein binding skin(1) 1 CCTTTCTGAAGGTCATAGTGC 0.542 N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 122 --- --- --- --- PASS KCNA4 3739 broad.mit.edu 37 11 30033959 30033959 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:30033959C>A uc001msk.2 - 2 1419 c.267G>T c.(265-267)CGG>CGT p.R89R NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 89 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 TCTTCTCAGACCGCTGTCGCC 0.622 30 54 --- --- --- --- PASS RAG2 5897 broad.mit.edu 37 11 36614556 36614556 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:36614556G>C uc001mwv.3 - 2 1351 c.1163C>G c.(1162-1164)GCA>GGA p.A388G RAG1_uc001mwt.2_RNA|C11orf74_uc010rfd.1_5'Flank|C11orf74_uc001mww.1_5'Flank|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank NM_000536 NP_000527 P55895 RAG2_HUMAN recombination activating gene 2 388 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding skin(3)|ovary(1)|pancreas(1) 5 all_lung(20;0.226) all_hematologic(20;0.00756) ATTTGCTTCTGCACTGAAACA 0.398 Familial_Hemophagocytic_Lymphohistiocytosis 65 109 --- --- --- --- PASS ACCSL 390110 broad.mit.edu 37 11 44069984 44069984 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:44069984G>C uc001mxw.1 + 1 454 c.398G>C c.(397-399)CGC>CCC p.R133P ACCSL_uc009ykr.2_5'UTR NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 133 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 TTTGTCAACCGCGACCTATCC 0.488 20 123 --- --- --- --- PASS MADD 8567 broad.mit.edu 37 11 47296439 47296439 + Nonsense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:47296439G>T uc001ner.1 + 3 579 c.388G>T c.(388-390)GAG>TAG p.E130* MADD_uc001neq.2_Nonsense_Mutation_p.E130*|MADD_uc001nev.1_Nonsense_Mutation_p.E130*|MADD_uc001nes.1_Nonsense_Mutation_p.E130*|MADD_uc001net.1_Nonsense_Mutation_p.E130*|MADD_uc009yln.1_Nonsense_Mutation_p.E130*|MADD_uc001neu.1_Nonsense_Mutation_p.E130*|MADD_uc001nex.2_Nonsense_Mutation_p.E130*|MADD_uc001nez.2_Nonsense_Mutation_p.E130*|MADD_uc001new.2_Nonsense_Mutation_p.E130* NM_003682 NP_003673 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain-containing 130 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity ovary(5)|skin(4)|central_nervous_system(2) 11 Lung(87;0.182) TGCCTCAGAAGAGGGTGGCAC 0.602 4 84 --- --- --- --- PASS OR4B1 119765 broad.mit.edu 37 11 48239284 48239284 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:48239284G>A uc010rhs.1 + 1 923 c.923G>A c.(922-924)AGG>AAG p.R308K NM_001005470 NP_001005470 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, 308 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|pancreas(1) 4 AATCCAGGGAGGGAGTGAAAA 0.403 25 40 --- --- --- --- PASS OR4C11 219429 broad.mit.edu 37 11 55371530 55371530 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:55371530C>A uc010rii.1 - 1 320 c.320G>T c.(319-321)TGC>TTC p.C107F NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 GATCTCCATGCAGCCAAATAA 0.448 54 80 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419153 55419153 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:55419153C>A uc001nhs.1 + 1 774 c.774C>A c.(772-774)CGC>CGA p.R258R NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) TGTACATGCGCCCTGATACGA 0.468 122 144 --- --- --- --- PASS OR4S2 219431 broad.mit.edu 37 11 55419154 55419154 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:55419154C>A uc001nhs.1 + 1 775 c.775C>A c.(775-777)CCT>ACT p.P259T NM_001004059 NP_001004059 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, 259 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 all_epithelial(135;0.0748) GTACATGCGCCCTGATACGAC 0.468 121 147 --- --- --- --- PASS OR4C6 219432 broad.mit.edu 37 11 55433452 55433452 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:55433452T>A uc001nht.3 + 3 1075 c.810T>A c.(808-810)GCT>GCA p.A270A OR4C6_uc010rik.1_Silent_p.A270A NM_001004704 NP_001004704 Q8NH72 OR4C6_HUMAN olfactory receptor, family 4, subfamily C, 270 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 AGGCAATGGCTGTGTCAGACT 0.473 23 116 --- --- --- --- PASS OR8I2 120586 broad.mit.edu 37 11 55861250 55861250 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:55861250C>A uc010rix.1 + 1 467 c.467C>A c.(466-468)TCG>TAG p.S156* NM_001003750 NP_001003750 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Esophageal squamous(21;0.00693) TTCACAAGCTCGCTGATATCT 0.433 39 149 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020637 56020637 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:56020637G>C uc010rjd.1 + 1 962 c.962G>C c.(961-963)AGT>ACT p.S321T NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 321 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATCATCTATAGTTTGAGGAAC 0.308 9 95 --- --- --- --- PASS OR10Q1 219960 broad.mit.edu 37 11 57995796 57995796 + Nonsense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:57995796G>T uc010rkd.1 - 1 552 c.552C>A c.(550-552)TGC>TGA p.C184* NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 184 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GAGGCACATCGCAGAGGAAGT 0.642 3 50 --- --- --- --- PASS OR5A1 219982 broad.mit.edu 37 11 59211269 59211269 + Missense_Mutation SNP G A A rs149491111 byFrequency TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:59211269G>A uc001nnx.1 + 1 628 c.628G>A c.(628-630)GGA>AGA p.G210R NM_001004728 NP_001004728 Q8NGJ0 OR5A1_HUMAN olfactory receptor, family 5, subfamily A, 210 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 GGTCACTGTCGGAGGAACATC 0.532 76 143 --- --- --- --- PASS RAD9A 5883 broad.mit.edu 37 11 67160217 67160217 + Silent SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:67160217T>G uc001okr.2 + 3 291 c.198T>G c.(196-198)CCT>CCG p.P66P RAD9A_uc001oks.2_5'Flank NM_004584 NP_004575 Q99638 RAD9A_HUMAN RAD9 homolog 66 Possesses 3'-5' exonuclease activity. DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint nucleoplasm 3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(15;8.53e-07) CAGCCACCCCTGGTCAGGACC 0.612 Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 24 94 --- --- --- --- PASS ANO1 55107 broad.mit.edu 37 11 69950238 69950238 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:69950238C>A uc001opj.2 + 4 979 c.674C>A c.(673-675)TCC>TAC p.S225Y ANO1_uc001opk.1_Missense_Mutation_p.S197Y|ANO1_uc001opl.1_RNA NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 225 Cytoplasmic (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 TATCCCTTCTCCCGGGAGAAG 0.517 12 16 --- --- --- --- PASS RSF1 51773 broad.mit.edu 37 11 77404559 77404559 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:77404559C>A uc001oyn.2 - 8 2933 c.2813G>T c.(2812-2814)TGC>TTC p.C938F RSF1_uc001oym.2_Missense_Mutation_p.C686F NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 938 PHD-type. CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TACATGTTGGCAAGGTGGGCA 0.418 15 19 --- --- --- --- PASS ODZ4 26011 broad.mit.edu 37 11 78380569 78380569 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:78380569G>A uc001ozl.3 - 32 7284 c.6821C>T c.(6820-6822)GCT>GTT p.A2274V ODZ4_uc001ozk.3_Missense_Mutation_p.A499V|ODZ4_uc009yvb.1_Missense_Mutation_p.A858V NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 2274 Extracellular (Potential).|YD 21. signal transduction integral to membrane ovary(2)|pancreas(2) 4 GAGCAGGCCAGCTGAGTTGTA 0.612 34 147 --- --- --- --- PASS FAT3 120114 broad.mit.edu 37 11 92087084 92087084 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:92087084G>A uc001pdj.3 + 1 1823 c.1806G>A c.(1804-1806)GCG>GCA p.A602A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 602 Cadherin 6.|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) CAGTCTCAGCGATCGATATCG 0.393 TCGA Ovarian(4;0.039) 9 40 --- --- --- --- PASS CNTN5 53942 broad.mit.edu 37 11 100126584 100126584 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:100126584C>A uc001pga.2 + 17 2437 c.2098C>A c.(2098-2100)CCA>ACA p.P700T CNTN5_uc001pfz.2_Missense_Mutation_p.P700T|CNTN5_uc001pgb.2_Missense_Mutation_p.P626T|CNTN5_uc010ruk.1_5'UTR NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 700 Fibronectin type-III 1. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) CAACCACAGCCCAATCTCCTC 0.512 33 125 --- --- --- --- PASS TRPC6 7225 broad.mit.edu 37 11 101359755 101359755 + Silent SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:101359755T>A uc001pgk.3 - 4 1631 c.1206A>T c.(1204-1206)ACA>ACT p.T402T TRPC6_uc009ywy.2_Intron|TRPC6_uc009ywz.1_Intron NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 402 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) TGACCGCCATTGTCTGCTGTC 0.458 10 79 --- --- --- --- PASS MMP8 4317 broad.mit.edu 37 11 102595563 102595563 + Silent SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:102595563T>C uc001phe.2 - 1 123 c.24A>G c.(22-24)CCA>CCG p.P8P MMP8_uc010rut.1_5'Flank|MMP8_uc010ruu.1_5'UTR NM_002424 NP_002415 P22894 MMP8_HUMAN matrix metalloproteinase 8 preproprotein 8 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding ovary(3)|breast(1) 4 all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189) BRCA - Breast invasive adenocarcinoma(274;0.0141) AGAGCAGAAATGGAAGCGTCT 0.458 181 194 --- --- --- --- PASS KBTBD3 143879 broad.mit.edu 37 11 105923774 105923774 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:105923774C>A uc001pja.2 - 4 2282 c.1642G>T c.(1642-1644)GGA>TGA p.G548* KBTBD3_uc001pjb.2_Nonsense_Mutation_p.G548*|KBTBD3_uc009yxm.2_Nonsense_Mutation_p.G469* NM_198439 NP_940841 Q8NAB2 KBTB3_HUMAN BTB and kelch domain containing 3 544 ovary(1)|central_nervous_system(1) 2 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) TCTTCAATTCCAATTGCACCT 0.398 39 100 --- --- --- --- PASS MPZL3 196264 broad.mit.edu 37 11 118110946 118110946 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:118110946T>C uc001psm.2 - 2 222 c.220A>G c.(220-222)AGC>GGC p.S74G MPZL3_uc010rxy.1_Missense_Mutation_p.S62G|MPZL3_uc010rxz.1_RNA|MPZL3_uc009yzy.2_Intron NM_198275 NP_938016 Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 precursor 74 Ig-like V-type. cell adhesion integral to membrane 0 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) TGGCTGCTGCTGGGAGGGCGA 0.418 21 195 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252601 124252601 + Silent SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:124252601G>T uc010sai.1 - 1 639 c.639C>A c.(637-639)ACC>ACA p.T213T NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) AAATGAGGATGGTACAACTGG 0.433 71 212 --- --- --- --- PASS OR8B2 26595 broad.mit.edu 37 11 124252884 124252884 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:124252884G>T uc010sai.1 - 1 356 c.356C>A c.(355-357)GCA>GAA p.A119E NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCGATCATATGCCATTGAAGT 0.403 34 38 --- --- --- --- PASS OR8B3 390271 broad.mit.edu 37 11 124266892 124266892 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:124266892G>T uc010saj.1 - 1 356 c.356C>A c.(355-357)GCA>GAA p.A119E OR8B2_uc001qab.3_Intron NM_001005467 NP_001005467 Q8NGG8 OR8B3_HUMAN olfactory receptor, family 8, subfamily B, 119 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) GCGATCATATGCCATTGAGGT 0.393 4 58 --- --- --- --- PASS ITFG2 55846 broad.mit.edu 37 12 2929370 2929370 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:2929370G>A uc001qlb.1 + 5 589 c.525G>A c.(523-525)AAG>AAA p.K175K ITFG2_uc010seb.1_5'UTR|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 175 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TGTCCCTCAAGAAATGGATGC 0.602 5 26 --- --- --- --- PASS KCNA1 3736 broad.mit.edu 37 12 5021420 5021420 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:5021420G>T uc001qnh.2 + 2 1981 c.876G>T c.(874-876)AGG>AGT p.R292S NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 292 Helical; Voltage-sensor; Name=Segment S4; (Potential). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CCATCCTCAGGGTCATCCGCT 0.552 54 102 --- --- --- --- PASS CD163 9332 broad.mit.edu 37 12 7649411 7649411 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:7649411G>T uc001qsz.3 - 5 1225 c.1097C>A c.(1096-1098)TCT>TAT p.S366Y CD163_uc001qta.3_Missense_Mutation_p.S366Y|CD163_uc009zfw.2_Missense_Mutation_p.S366Y NM_004244 NP_004235 Q86VB7 C163A_HUMAN CD163 antigen isoform a 366 SRCR 3.|Extracellular (Potential). acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity ovary(6)|pancreas(1)|skin(1) 8 TAACTTACCAGAACATGTCAC 0.343 60 144 --- --- --- --- PASS PZP 5858 broad.mit.edu 37 12 9316787 9316787 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:9316787A>G uc001qvl.2 - 20 2585 c.2556T>C c.(2554-2556)TAT>TAC p.Y852Y PZP_uc009zgl.2_Intron|PZP_uc010sgo.1_RNA|PZP_uc009zgm.1_Intron NM_002864 NP_002855 pregnancy-zone protein precursor ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1) 5 CACAGATACAATAGGATTCTT 0.468 105 186 --- --- --- --- PASS LST-3TM12 338821 broad.mit.edu 37 12 21196331 21196331 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:21196331T>A uc010sin.1 + 6 650 c.650T>A c.(649-651)GTG>GAG p.V217E SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Missense_Mutation_p.V264E NM_001009562 NP_001009562 Q71QF0 Q71QF0_HUMAN liver-specific organic anion transporter 3TM12 217 membrane transporter activity 0 GGTTTCCTTGTGTCTGGAATA 0.358 110 170 --- --- --- --- PASS SLCO1A2 6579 broad.mit.edu 37 12 21453281 21453281 + Splice_Site SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:21453281C>A uc001rer.2 - 7 1161 c.910_splice c.e7+1 p.D304_splice SLCO1A2_uc001res.2_Splice_Site_p.D304_splice|SLCO1A2_uc010siq.1_Splice_Site_p.D172_splice|SLCO1A2_uc010sio.1_Splice_Site_p.D172_splice|SLCO1A2_uc010sip.1_Splice_Site_p.D172_splice|SLCO1A2_uc001ret.2_Splice_Site_p.D302_splice|SLCO1A2_uc001reu.2_Splice_Site_p.D284_splice NM_021094 NP_066580 P46721 SO1A2_HUMAN organic anion transporting polypeptide A 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 TGTATATTTGCCTTTAGTGAT 0.299 28 76 --- --- --- --- PASS DDX11 1663 broad.mit.edu 37 12 31241998 31241998 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:31241998A>G uc001rjt.1 + 7 956 c.705A>G c.(703-705)ACA>ACG p.T235T DDX11_uc010sjw.1_Silent_p.T235T|DDX11_uc010sjx.1_RNA|DDX11_uc001rjr.1_Silent_p.T235T|DDX11_uc001rjs.1_Silent_p.T235T|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Silent_p.T235T|DDX11_uc001rjw.1_Silent_p.T209T|DDX11_uc001rjx.1_5'UTR|DDX11_uc009zjn.1_RNA NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 235 Helicase ATP-binding. G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) GTAGTCGGACACACTCCCAGC 0.522 Multiple Myeloma(12;0.14) 14 303 --- --- --- --- PASS DPY19L2 283417 broad.mit.edu 37 12 63964606 63964606 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:63964606C>G uc001srp.1 - 20 2113 c.1932G>C c.(1930-1932)ATG>ATC p.M644I DPY19L2_uc010sso.1_Missense_Mutation_p.M91I NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 644 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) TGATGCTTGCCATTGTAGGCA 0.373 52 60 --- --- --- --- PASS CPM 1368 broad.mit.edu 37 12 69265737 69265737 + Splice_Site SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:69265737C>G uc001sup.2 - 4 320 c.259_splice c.e4-1 p.T87_splice CPM_uc001sur.2_Splice_Site_p.T87_splice|CPM_uc001suq.2_Splice_Site_p.T87_splice NM_198320 NP_938079 P14384 CBPM_HUMAN carboxypeptidase M precursor anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding 0 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GCCCAACAGTCTATATGTGTT 0.443 53 34 --- --- --- --- PASS CCDC38 120935 broad.mit.edu 37 12 96312661 96312661 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:96312661T>G uc001tek.1 - 3 365 c.131A>C c.(130-132)AAG>ACG p.K44T NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 44 skin(1) 1 TACCGTTTCCTTTGCTGCCAT 0.358 58 50 --- --- --- --- PASS DDX54 79039 broad.mit.edu 37 12 113599121 113599121 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:113599121G>T uc001tup.2 - 19 2395 c.2367C>A c.(2365-2367)GAC>GAA p.D789E DDX54_uc001tuq.3_Missense_Mutation_p.D789E NM_024072 NP_076977 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 789 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity skin(2)|central_nervous_system(1) 3 GGCCTCGCCGGTCAGATGCCC 0.572 53 33 --- --- --- --- PASS SDS 10993 broad.mit.edu 37 12 113831701 113831701 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:113831701G>A uc001tvg.2 - 7 896 c.774C>T c.(772-774)TTC>TTT p.F258F NM_006843 NP_006834 P20132 SDHL_HUMAN serine dehydratase 258 gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process cytoplasm L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding pancreas(1) 1 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) ACATACCCACGAACTTCTCAA 0.567 72 56 --- --- --- --- PASS CABP1 9478 broad.mit.edu 37 12 121098054 121098054 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:121098054C>T uc001tyu.2 + 3 808 c.741C>T c.(739-741)TGC>TGT p.C247C CABP1_uc001tyv.2_Silent_p.C104C|CABP1_uc001tyw.2_Silent_p.C44C|CABP1_uc001tyx.2_Silent_p.C89C NM_001033677 NP_001028849 Q9NZU7 CABP1_HUMAN calcium binding protein 1 isoform 3 247 1.|EF-hand 1. cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACATCAACTGCCGGGATCTGG 0.572 12 83 --- --- --- --- PASS MPHOSPH9 10198 broad.mit.edu 37 12 123687280 123687280 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:123687280C>A uc001uel.2 - 6 1323 c.1216G>T c.(1216-1218)GTC>TTC p.V406F MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron NM_022782 NP_073619 Q99550 MPP9_HUMAN M-phase phosphoprotein 9 406 M phase of mitotic cell cycle centriole|Golgi membrane 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169) GCAACCATGACAGTGTTTTCT 0.448 26 152 --- --- --- --- PASS ANKLE2 23141 broad.mit.edu 37 12 133324531 133324531 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:133324531C>T uc001ukx.2 - 5 1184 c.1117G>A c.(1117-1119)GTC>ATC p.V373I ANKLE2_uc001uky.3_Missense_Mutation_p.V311I NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 373 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) TTCTCCAGGACGTCCAGAGTC 0.547 25 108 --- --- --- --- PASS TPTE2 93492 broad.mit.edu 37 13 20000609 20000609 + Missense_Mutation SNP C G G rs141691551 by1000genomes TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:20000609C>G uc001umd.2 - 19 1562 c.1351G>C c.(1351-1353)GGT>CGT p.G451R TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Missense_Mutation_p.G340R|TPTE2_uc001ume.2_Missense_Mutation_p.G374R|TPTE2_uc009zzm.2_Missense_Mutation_p.G122R|TPTE2_uc010tcm.1_RNA|TPTE2_uc010tcl.1_Missense_Mutation_p.G122R NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 451 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AGAGGTGGACCGTCATATACA 0.338 25 119 --- --- --- --- PASS CENPJ 55835 broad.mit.edu 37 13 25479961 25479961 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:25479961C>A uc001upt.3 - 7 2468 c.2215G>T c.(2215-2217)GGG>TGG p.G739W CENPJ_uc010tdf.1_RNA|CENPJ_uc010aae.2_RNA|CENPJ_uc010aaf.2_RNA|CENPJ_uc001upu.2_5'Flank NM_018451 NP_060921 Q9HC77 CENPJ_HUMAN centromere protein J 739 cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization centriole|cytosol|gamma-tubulin small complex|microtubule protein domain specific binding|tubulin binding ovary(2) 2 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139) TTAAAAGGCCCCTTATCATCA 0.448 96 194 --- --- --- --- PASS ATP8A2 51761 broad.mit.edu 37 13 26144967 26144967 + Silent SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:26144967T>G uc001uqk.2 + 17 1678 c.1536T>G c.(1534-1536)CCT>CCG p.P512P ATP8A2_uc010tdi.1_Silent_p.P472P|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.P22P|ATP8A2_uc001uql.1_Silent_p.P472P NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 472 Cytoplasmic (Potential). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CGGTTGTTCCTGAGAAGGATG 0.587 4 112 --- --- --- --- PASS MAB21L1 4081 broad.mit.edu 37 13 36049898 36049898 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:36049898G>A uc001uvc.2 - 1 935 c.378C>T c.(376-378)CGC>CGT p.R126R NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 126 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) ACCGGATTTTGCGCGCCGAGA 0.592 15 49 --- --- --- --- PASS SIAH3 283514 broad.mit.edu 37 13 46358134 46358134 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:46358134G>A uc001vap.2 - 2 276 c.194C>T c.(193-195)CCT>CTT p.P65L NM_198849 NP_942146 Q8IW03 SIAH3_HUMAN seven in absentia homolog 3 65 SIAH-type; degenerate.|His-rich. multicellular organismal development|ubiquitin-dependent protein catabolic process nucleus metal ion binding ovary(1)|skin(1) 2 GAGATGGTGAGGGTGGAAGCT 0.398 8 49 --- --- --- --- PASS TBC1D4 9882 broad.mit.edu 37 13 75915705 75915705 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:75915705G>T uc001vjl.1 - 6 1774 c.1427C>A c.(1426-1428)GCC>GAC p.A476D TBC1D4_uc010aer.2_Missense_Mutation_p.A476D|TBC1D4_uc010aes.2_Missense_Mutation_p.A476D NM_014832 NP_055647 O60343 TBCD4_HUMAN TBC1 domain family, member 4 476 cytoplasm Rab GTPase activator activity ovary(4)|central_nervous_system(1)|skin(1) 6 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) CACCAGCTTGGCTCTTGGTGG 0.433 21 44 --- --- --- --- PASS LMO7 4008 broad.mit.edu 37 13 76407256 76407256 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:76407256A>G uc001vjv.2 + 13 3080 c.2320A>G c.(2320-2322)ATA>GTA p.I774V LMO7_uc010thv.1_Missense_Mutation_p.I725V|LMO7_uc001vjt.1_Missense_Mutation_p.I673V|LMO7_uc010thw.1_Missense_Mutation_p.I624V|LMO7_uc001vjw.1_Missense_Mutation_p.I680V NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1059 PDZ. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) TGGGTTTACAATAAAATGGGA 0.393 34 45 --- --- --- --- PASS LIG4 3981 broad.mit.edu 37 13 108862550 108862550 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr13:108862550T>A uc001vqn.2 - 2 1340 c.1067A>T c.(1066-1068)GAG>GTG p.E356V LIG4_uc001vqo.2_Missense_Mutation_p.E356V|LIG4_uc010agg.1_Missense_Mutation_p.E289V|LIG4_uc010agf.2_Missense_Mutation_p.E356V|LIG4_uc001vqp.2_Missense_Mutation_p.E356V NM_002312 NP_002303 P49917 DNLI4_HUMAN DNA ligase IV 356 cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding 0 all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104) ATCAGAATCCTCTACCATTCT 0.328 NHEJ 30 148 --- --- --- --- PASS MYH7 4625 broad.mit.edu 37 14 23884917 23884917 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:23884917T>C uc001wjx.2 - 35 5184 c.5078A>G c.(5077-5079)GAG>GGG p.E1693G NM_000257 NP_000248 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1693 Potential. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(3)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CTCTGTCTGCTCCACCACGGC 0.632 16 72 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42360908 42360908 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:42360908C>A uc001wvm.2 + 4 3039 c.1841C>A c.(1840-1842)TCA>TAA p.S614* LRFN5_uc010ana.2_Intron NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 614 Cytoplasmic (Potential). integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) ATTCAATCTTCAGAAACTTGT 0.478 HNSCC(30;0.082) 19 53 --- --- --- --- PASS MDGA2 161357 broad.mit.edu 37 14 47426643 47426643 + Missense_Mutation SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:47426643A>C uc001wwj.3 - 9 2012 c.1816T>G c.(1816-1818)TAT>GAT p.Y606D MDGA2_uc001wwi.3_Missense_Mutation_p.Y377D|MDGA2_uc010ani.2_Missense_Mutation_p.Y166D NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 606 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 TAAACCCCATAGTTTTCATTG 0.398 17 88 --- --- --- --- PASS C14orf183 196913 broad.mit.edu 37 14 50559321 50559321 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:50559321C>T uc010tqk.1 - 1 41 c.41G>A c.(40-42)AGA>AAA p.R14K NM_001014830 NP_001014830 Q8WXQ3 CN183_HUMAN hypothetical protein LOC196913 14 0 ACGTTTGGCTCTGACATCCAT 0.368 26 68 --- --- --- --- PASS CDKL1 8814 broad.mit.edu 37 14 50799106 50799106 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:50799106C>T uc001wxz.2 - 8 871 c.843G>A c.(841-843)CAG>CAA p.Q281Q ATP5S_uc010ant.1_Intron NM_004196 NP_004187 Q00532 CDKL1_HUMAN cyclin-dependent kinase-like 1 280 Protein kinase. cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity ovary(1)|stomach(1) 2 all_epithelial(31;0.000746)|Breast(41;0.0102) GATGCAACAGCTGTTCACATG 0.383 40 134 --- --- --- --- PASS C14orf37 145407 broad.mit.edu 37 14 58605813 58605813 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:58605813T>A uc001xdc.2 - 2 375 c.264A>T c.(262-264)AAA>AAT p.K88N C14orf37_uc010tro.1_Missense_Mutation_p.K126N|C14orf37_uc001xdd.2_Missense_Mutation_p.K88N|C14orf37_uc001xde.2_Missense_Mutation_p.K88N NM_001001872 NP_001001872 Q86TY3 CN037_HUMAN hypothetical protein LOC145407 precursor 88 Extracellular (Potential). integral to membrane binding 0 TCGAGAATGCTTTATTTAATG 0.473 35 108 --- --- --- --- PASS SPTB 6710 broad.mit.edu 37 14 65266561 65266561 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:65266561G>T uc001xht.2 - 8 1022 c.968C>A c.(967-969)ACT>AAT p.T323N SPTB_uc001xhr.2_Missense_Mutation_p.T323N|SPTB_uc001xhs.2_Missense_Mutation_p.T323N|SPTB_uc001xhu.2_Missense_Mutation_p.T323N NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 323 Spectrin 1. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTTCAGGACAGTGATGGTCTG 0.557 OREG0022735 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 23 86 --- --- --- --- PASS SLC24A4 123041 broad.mit.edu 37 14 92959967 92959967 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:92959967G>C uc001yak.2 + 17 1837 c.1813G>C c.(1813-1815)GAT>CAT p.D605H SLC24A4_uc001yai.2_Missense_Mutation_p.D558H|SLC24A4_uc010twm.1_Missense_Mutation_p.D603H|SLC24A4_uc001yaj.2_Missense_Mutation_p.D586H|SLC24A4_uc010auj.2_3'UTR|SLC24A4_uc010twn.1_Missense_Mutation_p.D378H|SLC24A4_uc001yan.2_Missense_Mutation_p.D316H NM_153646 NP_705932 Q8NFF2 NCKX4_HUMAN solute carrier family 24 member 4 isoform 1 622 Extracellular (Potential). integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(2)|ovary(1) 3 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) CCGGGAAGACGATTAGCGCTG 0.547 15 31 --- --- --- --- PASS DLK1 8788 broad.mit.edu 37 14 101201173 101201173 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:101201173C>A uc001yhs.3 + 5 1245 c.1092C>A c.(1090-1092)ATC>ATA p.I364I DLK1_uc001yhu.3_Silent_p.I291I NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 364 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) TCAACATCATCTTCCCCGAGA 0.572 52 169 --- --- --- --- PASS DLK1 8788 broad.mit.edu 37 14 101201174 101201174 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:101201174T>G uc001yhs.3 + 5 1246 c.1093T>G c.(1093-1095)TTC>GTC p.F365V DLK1_uc001yhu.3_Missense_Mutation_p.F292V NM_003836 NP_003827 P80370 DLK1_HUMAN delta-like 1 homolog precursor 365 Cytoplasmic (Potential). multicellular organismal development extracellular space|integral to membrane|soluble fraction ovary(2)|breast(1)|skin(1) 4 Melanoma(154;0.155) CAACATCATCTTCCCCGAGAA 0.577 52 171 --- --- --- --- PASS BAG5 9529 broad.mit.edu 37 14 104027168 104027168 + Missense_Mutation SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:104027168A>C uc001yni.1 - 2 568 c.334T>G c.(334-336)TTT>GTT p.F112V KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.F153V|BAG5_uc001ynj.1_Missense_Mutation_p.F112V|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 112 BAG 2. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) CCATTATAAAATGGCACAATT 0.423 41 175 --- --- --- --- PASS AHNAK2 113146 broad.mit.edu 37 14 105411766 105411766 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:105411766T>A uc010axc.1 - 7 10142 c.10022A>T c.(10021-10023)GAC>GTC p.D3341V AHNAK2_uc001ypx.2_Missense_Mutation_p.D3241V NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3341 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) GAGGCTCACGTCGGCCTCCGC 0.622 57 219 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107078598 107078598 + RNA SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:107078598C>A uc010tyt.1 - 117 c.5692G>T Parts of antibodies, mostly variable regions. 0 ATCCAGAAGCCTTGCAGGAGA 0.562 6 97 --- --- --- --- PASS GABRG3 2567 broad.mit.edu 37 15 27222257 27222257 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr15:27222257G>C uc001zbg.1 + 2 328 c.162G>C c.(160-162)TTG>TTC p.L54F GABRG3_uc001zbf.2_Missense_Mutation_p.L54F NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 54 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) TCAACAAGTTGCTAAGAGAAT 0.358 57 56 --- --- --- --- PASS HERC2 8924 broad.mit.edu 37 15 28391416 28391416 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr15:28391416C>T uc001zbj.2 - 71 11081 c.10975G>A c.(10975-10977)GAC>AAC p.D3659N NM_004667 NP_004658 O95714 HERC2_HUMAN hect domain and RLD 2 3659 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(4)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 13 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTGACGCCGTCCATGACTGTG 0.562 45 45 --- --- --- --- PASS ACAN 176 broad.mit.edu 37 15 89400853 89400853 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr15:89400853A>T uc010upo.1 + 12 5411 c.5037A>T c.(5035-5037)GAA>GAT p.E1679D ACAN_uc010upp.1_Missense_Mutation_p.E1679D|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 1679 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGAACTGGAAGGGAGGGGAA 0.517 7 212 --- --- --- --- PASS OR4F15 390649 broad.mit.edu 37 15 102358988 102358988 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr15:102358988C>G uc010uts.1 + 1 599 c.599C>G c.(598-600)ACT>AGT p.T200S NM_001001674 NP_001001674 Q8NGB8 O4F15_HUMAN olfactory receptor, family 4, subfamily F, 200 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187) TTCATGGTCACTGTCAATAGT 0.438 5 263 --- --- --- --- PASS CCNF 899 broad.mit.edu 37 16 2503520 2503520 + Missense_Mutation SNP C T T rs142982582 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:2503520C>T uc002cqd.1 + 15 1785 c.1697C>T c.(1696-1698)TCG>TTG p.S566L CCNF_uc002cqe.1_Missense_Mutation_p.S258L NM_001761 NP_001752 P41002 CCNF_HUMAN cyclin F 566 cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process centriole|nucleus|SCF ubiquitin ligase complex protein binding central_nervous_system(1)|kidney(1) 2 Ovarian(90;0.17) AGCTCTCCCTCGGGGCGGAGA 0.602 23 66 --- --- --- --- PASS CLDN9 9080 broad.mit.edu 37 16 3063428 3063428 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:3063428T>C uc010uwo.1 + 1 972 c.65T>C c.(64-66)CTG>CCG p.L22P NM_020982 NP_066192 O95484 CLD9_HUMAN claudin 9 22 Helical; (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 CTGGGGACCCTGGTGTCCTGC 0.667 20 24 --- --- --- --- PASS USP7 7874 broad.mit.edu 37 16 8988925 8988925 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:8988925C>T uc002czl.2 - 28 3201 c.3002G>A c.(3001-3003)GGA>GAA p.G1001E USP7_uc010uyk.1_Missense_Mutation_p.G902E|USP7_uc002czj.2_RNA|USP7_uc010uyj.1_Missense_Mutation_p.G902E|USP7_uc002czk.2_Missense_Mutation_p.G985E NM_003470 NP_003461 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 1001 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(3) 3 TCCGAACGTTCCGAAGACCTC 0.522 89 181 --- --- --- --- PASS ACSM2A 123876 broad.mit.edu 37 16 20494469 20494469 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:20494469A>G uc010bwe.2 + 14 1838 c.1599A>G c.(1597-1599)TCA>TCG p.S533S ACSM2A_uc002dhf.3_Silent_p.S533S|ACSM2A_uc002dhg.3_Silent_p.S533S|ACSM2A_uc010vay.1_Silent_p.S454S|ACSM2A_uc002dhh.3_Silent_p.S163S NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 533 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 ATGTGAAGTCAGTGACAGCCC 0.473 76 71 --- --- --- --- PASS AQP8 343 broad.mit.edu 37 16 25228740 25228740 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:25228740C>A uc002doc.2 + 2 316 c.234C>A c.(232-234)CTC>CTA p.L78L NM_001169 NP_001160 O94778 AQP8_HUMAN aquaporin 8 78 Extracellular (Potential). cellular response to cAMP integral to plasma membrane water channel activity upper_aerodigestive_tract(1)|breast(1)|pancreas(1) 3 GBM - Glioblastoma multiforme(48;0.044) CTTTGGGGCTCGTGATTGCCA 0.597 82 62 --- --- --- --- PASS CNOT1 23019 broad.mit.edu 37 16 58585606 58585606 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:58585606C>A uc002env.2 - 23 3381 c.3088G>T c.(3088-3090)GCT>TCT p.A1030S CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.A1025S|CNOT1_uc002enx.2_Missense_Mutation_p.A1030S|CNOT1_uc002enz.1_Missense_Mutation_p.A459S|CNOT1_uc010vik.1_Missense_Mutation_p.A26S NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 1030 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) GCAAGAGGAGCTTTTGCTGGA 0.413 4 189 --- --- --- --- PASS DPEP2 64174 broad.mit.edu 37 16 68025838 68025838 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:68025838C>T uc010cey.2 - 4 729 c.565G>A c.(565-567)GGT>AGT p.G189S DPEP2_uc002evd.3_Missense_Mutation_p.G189S|DPEP2_uc002eve.2_Missense_Mutation_p.G189S|DPEP2_uc002evf.2_RNA|DPEP2_uc002evg.2_3'UTR NM_022355 NP_071750 Q9H4A9 DPEP2_HUMAN dipeptidase 2 precursor 189 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity skin(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) GAGTGGCCACCCTCTACACCG 0.557 28 29 --- --- --- --- PASS BCAR1 9564 broad.mit.edu 37 16 75263572 75263572 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:75263572T>A uc002fdv.2 - 7 2573 c.2450A>T c.(2449-2451)AAC>ATC p.N817I BCAR1_uc002fdt.2_Missense_Mutation_p.N270I|BCAR1_uc002fdu.2_Missense_Mutation_p.N607I|BCAR1_uc010cgu.2_Missense_Mutation_p.N806I|BCAR1_uc010vna.1_Missense_Mutation_p.N815I|BCAR1_uc010vnb.1_Missense_Mutation_p.N863I|BCAR1_uc002fdw.2_Missense_Mutation_p.N817I|BCAR1_uc010vnc.1_Missense_Mutation_p.N669I|BCAR1_uc010vnd.1_Missense_Mutation_p.N835I|BCAR1_uc002fdx.2_Missense_Mutation_p.N835I NM_014567 NP_055382 P56945 BCAR1_HUMAN breast cancer anti-estrogen resistance 1 817 actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway cytosol|focal adhesion|membrane fraction|ruffle protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity central_nervous_system(5)|breast(2)|prostate(1) 8 BRCA - Breast invasive adenocarcinoma(221;0.169) GCACAGCAGGTTGCTGTAGTG 0.652 12 24 --- --- --- --- PASS OSGIN1 29948 broad.mit.edu 37 16 83998786 83998786 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:83998786G>T uc002fha.2 + 7 1240 c.857G>T c.(856-858)TGG>TTG p.W286L OSGIN1_uc002fhb.2_Missense_Mutation_p.W203L|OSGIN1_uc002fhc.2_Missense_Mutation_p.W203L NM_013370 NP_037502 Q9UJX0 OSGI1_HUMAN oxidative stress induced growth inhibitor 1 286 cell differentiation|multicellular organismal development|negative regulation of cell growth growth factor activity 0 GCCGTGGAGTGGGGGACCCCC 0.647 41 43 --- --- --- --- PASS KIAA0182 23199 broad.mit.edu 37 16 85688444 85688444 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr16:85688444C>A uc002fix.2 + 5 718 c.644C>A c.(643-645)ACC>AAC p.T215N KIAA0182_uc002fiw.2_Missense_Mutation_p.T111N|KIAA0182_uc002fiy.2_Missense_Mutation_p.T142N NM_014615 NP_055430 Q14687 GSE1_HUMAN genetic suppressor element 1 isoform 1 215 protein binding large_intestine(3)|ovary(1)|skin(1) 5 AGTACCGTGACCGAGGACTAC 0.687 7 23 --- --- --- --- PASS ABR 29 broad.mit.edu 37 17 910418 910418 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:910418T>A uc002fsd.2 - 22 2587 c.2477A>T c.(2476-2478)GAC>GTC p.D826V ABR_uc002fse.2_Missense_Mutation_p.D780V|ABR_uc010vqf.1_Missense_Mutation_p.D277V|ABR_uc010vqg.1_Missense_Mutation_p.D608V|ABR_uc002fsg.2_Missense_Mutation_p.D789V|ABR_uc002fsf.2_Missense_Mutation_p.D363V NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 826 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) CGCCATGACGTCATGGGACCA 0.657 27 22 --- --- --- --- PASS ATP2A3 489 broad.mit.edu 37 17 3844354 3844354 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:3844354G>C uc002fxb.1 - 14 2162 c.2011C>G c.(2011-2013)CGC>GGC p.R671G ATP2A3_uc002fwx.1_Missense_Mutation_p.R671G|ATP2A3_uc002fwy.1_Missense_Mutation_p.R671G|ATP2A3_uc002fwz.1_Missense_Mutation_p.R671G|ATP2A3_uc002fxa.1_Missense_Mutation_p.R671G|ATP2A3_uc002fxc.1_Missense_Mutation_p.R671G|ATP2A3_uc002fxd.1_Missense_Mutation_p.R671G NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 671 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) CGGGCGGTGCGGCAGGCCTGG 0.652 48 45 --- --- --- --- PASS TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C A A rs28934575 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:7577548C>A uc002gim.2 - 7 927 c.733G>T c.(733-735)GGC>TGC p.G245C TP53_uc002gig.1_Missense_Mutation_p.G245C|TP53_uc002gih.2_Missense_Mutation_p.G245C|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.G113C|TP53_uc010cng.1_Missense_Mutation_p.G113C|TP53_uc002gii.1_Missense_Mutation_p.G113C|TP53_uc010cnh.1_Missense_Mutation_p.G245C|TP53_uc010cni.1_Missense_Mutation_p.G245C|TP53_uc002gij.2_Missense_Mutation_p.G245C|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.G152C|TP53_uc002gio.2_Missense_Mutation_p.G113C NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 245 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> A (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> C (in LFS; germline mutation and 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.G245S(274)|p.G245D(93)|p.G245V(50)|p.G245C(47)|p.G245R(10)|p.G245A(8)|p.0?(7)|p.G245G(3)|p.G245fs*2(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.G245fs*22(1)|p.M243fs*18(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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) CGGTTCATGCCGCCCATGCAG 0.577 G245S(SKLMS1_SOFT_TISSUE)|G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKMEL2_SKIN) 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) 23 35 --- --- --- --- PASS MYH4 4622 broad.mit.edu 37 17 10364342 10364342 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:10364342A>G uc002gmn.2 - 12 1149 c.1038T>C c.(1036-1038)GCT>GCC p.A346A uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 346 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 CCTTTTCATCAGCAGTGAAAC 0.483 47 57 --- --- --- --- PASS KRT12 3859 broad.mit.edu 37 17 39023052 39023052 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:39023052C>T uc002hvk.2 - 1 411 c.387G>A c.(385-387)ATG>ATA p.M129I NM_000223 NP_000214 Q99456 K1C12_HUMAN keratin 12 129 Rod.|Coil 1A. visual perception intermediate filament structural molecule activity ovary(1) 1 Breast(137;0.000301) TAAGATTTTGCATAGTTTCTT 0.448 116 276 --- --- --- --- PASS ETV4 2118 broad.mit.edu 37 17 41610575 41610575 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:41610575A>G uc002idw.2 - 7 653 c.525T>C c.(523-525)CAT>CAC p.H175H ETV4_uc002idv.2_5'Flank|ETV4_uc010wih.1_Intron|ETV4_uc010czh.2_Silent_p.H174H|ETV4_uc010wii.1_Silent_p.H136H|ETV4_uc002idx.2_Silent_p.H175H|ETV4_uc010wij.1_Silent_p.H136H|ETV4_uc002idy.1_Silent_p.H136H NM_001986 NP_001977 P43268 ETV4_HUMAN ets variant gene 4 (E1A enhancer binding 175 Gln-rich. positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6) bone(4)|soft_tissue(2)|ovary(1) 7 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) CGAGGTACCCATGGCCAGGGT 0.577 T EWSR1|TMPRSS2|DDX5|KLK2|CANT1 Ewing sarcoma|Prostate carcinoma 59 126 --- --- --- --- PASS WNT3 7473 broad.mit.edu 37 17 44851265 44851265 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:44851265G>C uc002ikv.2 - 2 210 c.91C>G c.(91-93)CTG>GTG p.L31V NM_030753 NP_110380 P56703 WNT3_HUMAN wingless-type MMTV integration site family, 31 canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|signal transducer activity lung(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.0257) TGCTGGCCCAGGGCCAGGGAC 0.622 6 33 --- --- --- --- PASS SPAG9 9043 broad.mit.edu 37 17 49097545 49097545 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:49097545C>G uc002itc.2 - 8 1275 c.1066G>C c.(1066-1068)GAT>CAT p.D356H SPAG9_uc002itb.2_Missense_Mutation_p.D342H|SPAG9_uc002itd.2_Missense_Mutation_p.D342H|SPAG9_uc002itf.2_Missense_Mutation_p.D177H|SPAG9_uc002ita.2_Missense_Mutation_p.D199H|SPAG9_uc002ite.2_Missense_Mutation_p.D186H NM_001130528 NP_001124000 O60271 JIP4_HUMAN sperm associated antigen 9 isoform 1 356 positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm lung(4)|breast(1) 5 BRCA - Breast invasive adenocarcinoma(22;4.24e-07) CCACTGAGATCTTTGTCCATA 0.403 3 125 --- --- --- --- PASS PPM1E 22843 broad.mit.edu 37 17 56833427 56833427 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:56833427C>A uc002iwx.2 + 1 196 c.69C>A c.(67-69)CGC>CGA p.R23R PPM1E_uc010ddd.2_5'UTR NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 23 Glu-rich. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) GCGAGTTTCGCGGACCGTGCG 0.418 14 20 --- --- --- --- PASS CSHL1 1444 broad.mit.edu 37 17 61987119 61987119 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:61987119G>C uc002jda.1 - 5 683 c.621C>G c.(619-621)TTC>TTG p.F207L CSHL1_uc002jcz.1_Missense_Mutation_p.F184L|CSHL1_uc002jdb.1_Missense_Mutation_p.F113L|CSHL1_uc002jdc.1_Missense_Mutation_p.F124L|CSHL1_uc002jdd.1_Missense_Mutation_p.F145L|CSHL1_uc002jde.2_3'UTR|CSHL1_uc002jdf.2_3'UTR|CSHL1_uc002jdg.2_3'UTR|CSHL1_uc002jdh.2_3'UTR NM_022579 NP_072101 Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 207 extracellular region hormone activity|metal ion binding 0 CCATGCGCAGGAATGTCTCGA 0.597 43 102 --- --- --- --- PASS FADS6 283985 broad.mit.edu 37 17 72888777 72888777 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr17:72888777G>A uc002jmd.1 - 2 242 c.230C>T c.(229-231)GCA>GTA p.A77V NM_178128 NP_835229 Q8N9I5 FADS6_HUMAN fatty acid desaturase domain family, member 6 83 Helical; (Potential). fatty acid biosynthetic process integral to membrane oxidoreductase activity 0 all_lung(278;0.172)|Lung NSC(278;0.207) GATGCCGGATGCAAAGACCAG 0.602 13 22 --- --- --- --- PASS TMEM200C 645369 broad.mit.edu 37 18 5891767 5891767 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:5891767G>T uc002kmx.1 - 1 337 c.296C>A c.(295-297)CCA>CAA p.P99Q NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 99 integral to membrane 0 GGCCGTGGTTGGGACCCGGTG 0.692 13 26 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 6961626 6961626 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:6961626C>T uc002knm.2 - 53 7679 c.7585G>A c.(7585-7587)GGG>AGG p.G2529R LAMA1_uc002knl.2_5'UTR|LAMA1_uc010wzj.1_Missense_Mutation_p.G2005R NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2529 Laminin G-like 3. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCACATCCCCGCCGAGGGCA 0.537 12 34 --- --- --- --- PASS ZNF521 25925 broad.mit.edu 37 18 22806795 22806795 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:22806795G>A uc002kvk.2 - 4 1334 c.1087C>T c.(1087-1089)CTC>TTC p.L363F ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.L363F|ZNF521_uc002kvl.2_Missense_Mutation_p.L143F NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 363 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) TCCACTGAGAGGTTGGAATCT 0.582 T PAX5 ALL 40 145 --- --- --- --- PASS ASXL3 80816 broad.mit.edu 37 18 31226214 31226214 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:31226214G>T uc010dmg.1 + 4 307 c.252G>T c.(250-252)GAG>GAT p.E84D ASXL3_uc002kxq.2_Translation_Start_Site NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding ovary(2)|pancreas(1) 3 TACAGAAAGAGGAGTCGTCAT 0.383 22 38 --- --- --- --- PASS POLI 11201 broad.mit.edu 37 18 51807181 51807181 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:51807181C>G uc002lfj.3 + 5 772 c.704C>G c.(703-705)TCT>TGT p.S235C POLI_uc010xds.1_Intron|POLI_uc002lfk.3_Missense_Mutation_p.S132C|POLI_uc002lfl.1_Missense_Mutation_p.S167C|POLI_uc010dpg.2_5'Flank NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 235 UmuC. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) AAATTAGTTTCTGGTGTCTTT 0.393 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 4 140 --- --- --- --- PASS CDH20 28316 broad.mit.edu 37 18 59212338 59212338 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:59212338G>A uc010dps.1 + 9 1621 c.1609G>A c.(1609-1611)GCT>ACT p.A537T CDH20_uc002lif.2_Missense_Mutation_p.A531T NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) GGCTCCTGAGGCTGCTAACAA 0.502 51 43 --- --- --- --- PASS CD226 10666 broad.mit.edu 37 18 67614156 67614156 + Missense_Mutation SNP T A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:67614156T>A uc010dqo.2 - 2 643 c.196A>T c.(196-198)ACT>TCT p.T66S CD226_uc002lkm.3_Missense_Mutation_p.T66S NM_006566 NP_006557 Q15762 CD226_HUMAN CD226 molecule precursor 66 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity 0 Esophageal squamous(42;0.129) ATGCCATGAGTAGGGCTGAAA 0.453 23 29 --- --- --- --- PASS ATP9B 374868 broad.mit.edu 37 18 77067172 77067172 + Missense_Mutation SNP G C C rs113878267 byFrequency TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:77067172G>C uc002lmx.2 + 15 1725 c.1711G>C c.(1711-1713)GCA>CCA p.A571P ATP9B_uc002lmv.1_RNA|ATP9B_uc002lmw.1_Missense_Mutation_p.A571P|ATP9B_uc002lmz.1_Missense_Mutation_p.A265P NM_198531 NP_940933 O43861 ATP9B_HUMAN ATPase, class II, type 9B 571 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3) 3 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GACTGAGTTCGCAGAGGCTGA 0.557 6 131 --- --- --- --- PASS GRIN3B 116444 broad.mit.edu 37 19 1004634 1004634 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:1004634G>A uc002lqo.1 + 3 1134 c.1134G>A c.(1132-1134)CGG>CGA p.R378R NM_138690 NP_619635 O60391 NMD3B_HUMAN glutamate receptor, ionotropic, 378 Extracellular (Potential). ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity 0 Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066) 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) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) GGGACCCACGGGGCGCCCCGG 0.731 4 7 --- --- --- --- PASS MIDN 90007 broad.mit.edu 37 19 1255693 1255693 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:1255693G>T uc002lrp.2 + 7 1644 c.1129G>T c.(1129-1131)GGG>TGG p.G377W NM_177401 NP_796375 Q504T8 MIDN_HUMAN midnolin 377 nucleolus 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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) CAAGCCCCCGGGTGAGTGGCC 0.692 6 7 --- --- --- --- PASS NFIC 4782 broad.mit.edu 37 19 3382208 3382208 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:3382208G>A uc010xhi.1 + 2 591 c.529G>A c.(529-531)GAC>AAC p.D177N NFIC_uc002lxo.2_Missense_Mutation_p.D168N|NFIC_uc010xhh.1_Missense_Mutation_p.D168N|NFIC_uc002lxp.2_Missense_Mutation_p.D177N|NFIC_uc010xhj.1_Missense_Mutation_p.D177N|NFIC_uc002lxq.1_Missense_Mutation_p.D129N NM_205843 NP_995315 P08651 NFIC_HUMAN nuclear factor I/C isoform 2 177 CTF/NF-I. DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) CAAGGAGCTGGACCTCTACCT 0.687 42 65 --- --- --- --- PASS KEAP1 9817 broad.mit.edu 37 19 10610247 10610247 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:10610247C>A uc002moq.1 - 2 619 c.463G>T c.(463-465)GTC>TTC p.V155F KEAP1_uc002mor.1_Missense_Mutation_p.V155F NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 155 regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) CCGTTCATGACGTGGAGGACA 0.587 30 69 --- --- --- --- PASS CACNA1A 773 broad.mit.edu 37 19 13335510 13335510 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:13335510C>T uc010dze.2 - 38 5941 c.5705G>A c.(5704-5706)CGC>CAC p.R1902H CACNA1A_uc010xnd.1_Missense_Mutation_p.R607H|CACNA1A_uc002mwx.3_Missense_Mutation_p.R607H|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1427H|CACNA1A_uc002mwy.3_Missense_Mutation_p.R1901H|CACNA1A_uc002mwv.3_Missense_Mutation_p.R418H NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 1902 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) CAGGGCTGTGCGGATCAGAGC 0.607 5 25 --- --- --- --- PASS OR10H2 26538 broad.mit.edu 37 19 15839471 15839471 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:15839471G>T uc002nbm.2 + 1 638 c.618G>T c.(616-618)ATG>ATT p.M206I NM_013939 NP_039227 O60403 O10H2_HUMAN olfactory receptor, family 10, subfamily H, 206 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074) TATGTATCATGGCACTGCTGG 0.512 24 125 --- --- --- --- PASS MYO9B 4650 broad.mit.edu 37 19 17311601 17311601 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:17311601A>G uc010eak.2 + 26 4678 c.4526A>G c.(4525-4527)AAT>AGT p.N1509S MYO9B_uc002nfi.2_Missense_Mutation_p.N1509S|MYO9B_uc002nfj.1_Missense_Mutation_p.N1509S|MYO9B_uc002nfl.1_Missense_Mutation_p.N58S NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1509 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 ACCAACGCCAATGAGCTCAAG 0.572 25 126 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19337859 19337859 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:19337859A>G uc002nlz.2 + 7 1736 c.1637A>G c.(1636-1638)AAT>AGT p.N546S NCAN_uc010ecc.1_Missense_Mutation_p.N110S NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 546 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) GATCTGACCAATGAGGTGGAT 0.602 11 61 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155187 22155187 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:22155187A>T uc002nqp.2 - 5 2498 c.2349T>A c.(2347-2349)CAT>CAA p.H783Q ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) TCTCTCCAGTATGAATTTTCT 0.373 29 66 --- --- --- --- PASS ZNF208 7757 broad.mit.edu 37 19 22155416 22155416 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:22155416C>G uc002nqp.2 - 5 2269 c.2120G>C c.(2119-2121)TGT>TCT p.C707S ZNF208_uc002nqo.1_Intron NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) ACATTCTTCACATTTGTAGGG 0.373 21 97 --- --- --- --- PASS ZNF98 148198 broad.mit.edu 37 19 22574340 22574340 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:22574340C>A uc002nqt.2 - 4 1819 c.1697G>T c.(1696-1698)AGA>ATA p.R566I NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 566 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) AGCACAATTTCTTTTATATTT 0.328 12 13 --- --- --- --- PASS LRP3 4037 broad.mit.edu 37 19 33695549 33695549 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:33695549G>T uc010edh.2 + 4 359 c.266G>T c.(265-267)CGC>CTC p.R89L LRP3_uc010xrp.1_5'UTR|LRP3_uc002nuk.3_5'UTR NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 89 Extracellular (Potential).|CUB 1. receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CGCAGCTTCCGCAACTTTGAC 0.687 63 233 --- --- --- --- PASS CATSPERG 57828 broad.mit.edu 37 19 38847171 38847171 + Nonsense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:38847171G>T uc002oih.3 + 10 1270 c.1183G>T c.(1183-1185)GAG>TAG p.E395* CATSPERG_uc002oig.3_Nonsense_Mutation_p.E395*|CATSPERG_uc002oif.3_Nonsense_Mutation_p.E35*|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 395 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 GTCTGTGTGCGAGCAGATAGG 0.612 4 191 --- --- --- --- PASS SUPT5H 6829 broad.mit.edu 37 19 39964981 39964981 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:39964981G>A uc002olo.3 + 27 2938 c.2759G>A c.(2758-2760)GGC>GAC p.G920D SUPT5H_uc002olp.3_Missense_Mutation_p.G920D|SUPT5H_uc002olq.3_Missense_Mutation_p.G916D|SUPT5H_uc002oln.3_Missense_Mutation_p.G920D|SUPT5H_uc002olr.3_Missense_Mutation_p.G920D|SUPT5H_uc002ols.1_Missense_Mutation_p.G543D NM_001111020 NP_001104490 O00267 SPT5H_HUMAN suppressor of Ty 5 homolog isoform a 920 10 X 8 AA approximate tandem repeats of P-[TS]-P-S-P-[QA]-[SG]-Y, motif CTR2.|CTR2-7; approximate.|Pro-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity ovary(3)|pancreas(1) 4 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) AGCCCAGCAGGCTACCAGAAT 0.637 OREG0025462 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 54 60 --- --- --- --- PASS PPP1R13L 10848 broad.mit.edu 37 19 45899466 45899466 + Nonsense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:45899466C>T uc002pbn.2 - 6 940 c.863G>A c.(862-864)TGG>TAG p.W288* PPP1R13L_uc002pbo.2_Nonsense_Mutation_p.W288*|PPP1R13L_uc002pbp.2_Nonsense_Mutation_p.W288* NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 288 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCTCTCCCTCCAAGGCAACAG 0.692 11 11 --- --- --- --- PASS SLC8A2 6543 broad.mit.edu 37 19 47935529 47935529 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:47935529G>T uc002pgx.2 - 9 2562 c.2284C>A c.(2284-2286)CTC>ATC p.L762I SLC8A2_uc010xyq.1_Missense_Mutation_p.L518I|SLC8A2_uc010xyr.1_Missense_Mutation_p.L225I|SLC8A2_uc010ele.2_Missense_Mutation_p.L762I NM_015063 NP_055878 Q9UPR5 NAC2_HUMAN solute carrier family 8 member 2 precursor 762 Helical; (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(1) 4 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) AGGGCGGTGAGCAGGCCGATG 0.627 9 109 --- --- --- --- PASS ZNF614 80110 broad.mit.edu 37 19 52521331 52521331 + Silent SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:52521331T>C uc002pyj.2 - 4 570 c.168A>G c.(166-168)GTA>GTG p.V56V ZNF614_uc002pyi.3_Silent_p.V56V|ZNF614_uc010epj.2_5'UTR NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 56 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) ACTTGGAGAGTACATCTGGTT 0.398 80 97 --- --- --- --- PASS SUV420H2 84787 broad.mit.edu 37 19 55853361 55853361 + Silent SNP C A A rs150127456 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:55853361C>A uc002qkj.3 + 2 305 c.57C>A c.(55-57)ACC>ACA p.T19T SUV420H2_uc010esx.1_Silent_p.T19T|SUV420H2_uc002qkk.1_Silent_p.T19T|SUV420H2_uc002qkl.2_5'UTR NM_032701 NP_116090 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 19 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding 0 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ACCTGGCCACCAGCCTCGTCC 0.662 70 100 --- --- --- --- PASS NLRP11 204801 broad.mit.edu 37 19 56320536 56320536 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:56320536C>T uc010ygf.1 - 5 2151 c.1440G>A c.(1438-1440)GAG>GAA p.E480E NLRP11_uc002qlz.2_Silent_p.E381E|NLRP11_uc002qmb.2_Silent_p.E381E|NLRP11_uc002qmc.2_RNA|NLRP11_uc010ete.1_RNA NM_145007 NP_659444 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 480 ATP binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) GTTCTCTCTTCTCTTTATACT 0.398 104 156 --- --- --- --- PASS NLRP8 126205 broad.mit.edu 37 19 56465914 56465914 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:56465914A>G uc002qmh.2 + 3 561 c.490A>G c.(490-492)ATA>GTA p.I164V NLRP8_uc010etg.2_Missense_Mutation_p.I164V NM_176811 NP_789781 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 164 cytoplasm ATP binding ovary(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|kidney(1) 13 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) GTTTTTCCCCATATGGGACAT 0.438 92 127 --- --- --- --- PASS ZNF470 388566 broad.mit.edu 37 19 57089467 57089467 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:57089467G>T uc002qnl.3 + 6 2346 c.1670G>T c.(1669-1671)AGA>ATA p.R557I ZNF470_uc010etn.2_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN zinc finger protein 470 557 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) CAGCACCAGAGAGTTCATACT 0.448 24 103 --- --- --- --- PASS VN1R1 57191 broad.mit.edu 37 19 57967343 57967343 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:57967343C>A uc002qos.1 - 1 512 c.512G>T c.(511-513)TGT>TTT p.C171F ZNF547_uc002qpm.3_Intron NM_020633 NP_065684 Q9GZP7 VN1R1_HUMAN vomeronasal 1 receptor 1 171 Helical; Name=4; (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity ovary(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)|Breast(46;0.222) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)|Lung(386;0.171) GAGGAGACAACAGAAGTCAAT 0.438 74 112 --- --- --- --- PASS TRIB3 57761 broad.mit.edu 37 20 368728 368728 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:368728T>C uc002wdm.2 + 2 580 c.74T>C c.(73-75)TTA>TCA p.L25S TRIB3_uc002wdn.2_Missense_Mutation_p.L52S NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 25 apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GATGACAACTTAGATACCGAG 0.592 57 152 --- --- --- --- PASS SIRPA 140885 broad.mit.edu 37 20 1895862 1895862 + Missense_Mutation SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:1895862T>C uc002wfq.2 + 3 557 c.197T>C c.(196-198)ATC>ACC p.I66T SIRPA_uc010zps.1_Missense_Mutation_p.I46T|SIRPA_uc002wfr.2_Missense_Mutation_p.I66T|SIRPA_uc002wfs.2_Missense_Mutation_p.I66T|SIRPA_uc002wft.2_Missense_Mutation_p.I66T NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 66 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GTGGGGCCCATCCAGTGGTTC 0.552 25 110 --- --- --- --- PASS MCM8 84515 broad.mit.edu 37 20 5965480 5965480 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:5965480C>A uc002wmi.2 + 15 2164 c.1787C>A c.(1786-1788)ACT>AAT p.T596N MCM8_uc002wmj.2_Missense_Mutation_p.T580N|MCM8_uc002wmk.2_Missense_Mutation_p.T636N|MCM8_uc002wml.2_Missense_Mutation_p.T596N|MCM8_uc010gbp.2_Missense_Mutation_p.T549N|MCM8_uc002wmm.2_Missense_Mutation_p.T134N NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 596 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 CTGTTAGATACTCCAAATGAG 0.388 67 188 --- --- --- --- PASS HAO1 54363 broad.mit.edu 37 20 7866512 7866512 + Splice_Site SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:7866512C>A uc002wmw.1 - 6 838 c.814_splice c.e6-1 p.I272_splice HAO1_uc010gbu.2_Splice_Site_p.I272_splice NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 GAACATCAATCTGGGGAAAGA 0.468 49 188 --- --- --- --- PASS TASP1 55617 broad.mit.edu 37 20 13415742 13415742 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:13415742A>T uc002woi.2 - 12 1162 c.1045T>A c.(1045-1047)TGC>AGC p.C349S TASP1_uc010zri.1_RNA|TASP1_uc002woh.2_Missense_Mutation_p.C326S NM_017714 NP_060184 Q9H6P5 TASP1_HUMAN taspase 1 precursor 349 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity 0 GAACATCTGCATGAACGGAGG 0.428 9 29 --- --- --- --- PASS ZNF133 7692 broad.mit.edu 37 20 18296593 18296593 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:18296593G>A uc010gcq.2 + 5 1403 c.1098G>A c.(1096-1098)AGG>AGA p.R366R ZNF133_uc010zrv.1_Silent_p.R369R|ZNF133_uc010zrw.1_Silent_p.R303R|ZNF133_uc010gcr.2_Silent_p.R366R|ZNF133_uc010zrx.1_Silent_p.R271R|ZNF133_uc002wql.3_Silent_p.R365R|ZNF133_uc010gcs.2_Silent_p.R365R|ZNF133_uc010zry.1_Silent_p.R271R|ZNF133_uc002wqm.2_Silent_p.R366R NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 366 C2H2-type 6. nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 TCAGCGACAGGTCAAACCTCA 0.587 14 50 --- --- --- --- PASS ENTPD6 955 broad.mit.edu 37 20 25193991 25193991 + Silent SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:25193991A>T uc002wuj.2 + 5 726 c.546A>T c.(544-546)ACA>ACT p.T182T ENTPD6_uc010zsy.1_Silent_p.T182T|ENTPD6_uc010gdj.1_Silent_p.T154T|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc002wum.2_Silent_p.T165T|ENTPD6_uc010zta.1_Silent_p.T182T|ENTPD6_uc002wun.2_Silent_p.T182T|ENTPD6_uc002wuk.2_Silent_p.T181T|ENTPD6_uc002wul.2_Silent_p.T181T|ENTPD6_uc010ztb.1_Silent_p.T154T|ENTPD6_uc010ztc.1_Silent_p.T154T|ENTPD6_uc002wuo.2_5'UTR|ENTPD6_uc010ztd.1_5'UTR NM_001247 NP_001238 O75354 ENTP6_HUMAN ectonucleoside triphosphate diphosphohydrolase 6 182 Lumenal (Potential). Golgi membrane|integral to membrane nucleoside-diphosphatase activity 0 TCAAGGCCACAGCTGGCTTAC 0.567 42 127 --- --- --- --- PASS FAM83C 128876 broad.mit.edu 37 20 33880012 33880012 + Silent SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:33880012C>G uc010zux.1 - 1 214 c.96G>C c.(94-96)CGG>CGC p.R32R FAM83C_uc002xcb.1_5'UTR NM_178468 NP_848563 Q9BQN1 FA83C_HUMAN hypothetical protein LOC128876 32 ovary(2) 2 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTGAGCTCTCCCGCCACCACG 0.746 2 4 --- --- --- --- PASS PREX1 57580 broad.mit.edu 37 20 47292764 47292764 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:47292764G>A uc002xtw.1 - 14 1655 c.1632C>T c.(1630-1632)CCC>CCT p.P544P NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 544 DEP 2. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GCTTGCTCCCGGGAAGCACTG 0.607 24 153 --- --- --- --- PASS ATP9A 10079 broad.mit.edu 37 20 50221365 50221365 + Nonsense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:50221365C>A uc002xwg.1 - 27 2998 c.2998G>T c.(2998-3000)GAG>TAG p.E1000* ATP9A_uc010gih.1_Nonsense_Mutation_p.E864*|ATP9A_uc002xwf.1_Nonsense_Mutation_p.E172* NM_006045 NP_006036 O75110 ATP9A_HUMAN ATPase, class II, type 9A 1000 Extracellular (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(4) 4 CCGATGAACTCGTGTAAGAAC 0.597 8 31 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027180 55027180 + Silent SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:55027180A>T uc002xxp.2 + 6 1173 c.948A>T c.(946-948)GTA>GTT p.V316V CASS4_uc002xxq.3_Silent_p.V316V|CASS4_uc002xxr.2_Silent_p.V316V|CASS4_uc010zze.1_Silent_p.V262V|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 316 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 GCTTTCTTGTACCCAGAGGCA 0.458 18 91 --- --- --- --- PASS CASS4 57091 broad.mit.edu 37 20 55027972 55027972 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:55027972C>T uc002xxp.2 + 6 1965 c.1740C>T c.(1738-1740)GTC>GTT p.V580V CASS4_uc002xxq.3_Silent_p.V580V|CASS4_uc002xxr.2_Silent_p.V580V|CASS4_uc010zze.1_Silent_p.V526V|CASS4_uc010gio.2_Intron NM_001164116 NP_001157588 Q9NQ75 CASS4_HUMAN HEF-like protein isoform a 580 cell adhesion cytoplasm|cytoskeleton|focal adhesion two-component sensor activity ovary(2)|skin(1) 3 CCTCCATTGTCATTGCCAATG 0.463 25 69 --- --- --- --- PASS ZNF831 128611 broad.mit.edu 37 20 57767486 57767486 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:57767486G>T uc002yan.2 + 1 1412 c.1412G>T c.(1411-1413)CGC>CTC p.R471L NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 471 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GGCCCCGTGCGCTCCACCTGG 0.672 8 42 --- --- --- --- PASS DIDO1 11083 broad.mit.edu 37 20 61525489 61525489 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr20:61525489G>A uc002ydr.1 - 12 2894 c.2630C>T c.(2629-2631)TCT>TTT p.S877F DIDO1_uc002yds.1_Missense_Mutation_p.S877F|DIDO1_uc002ydt.1_Missense_Mutation_p.S877F|DIDO1_uc002ydu.1_Missense_Mutation_p.S877F NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 877 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) TTTCTTAACAGAAGCTGACAA 0.512 56 143 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10920131 10920131 + Missense_Mutation SNP C G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr21:10920131C>G uc002yip.1 - 19 1491 c.1123G>C c.(1123-1125)GAT>CAT p.D375H TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.D357H|TPTE_uc002yir.1_Missense_Mutation_p.D337H|TPTE_uc010gkv.1_Missense_Mutation_p.D237H NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 375 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGGGTTTTATCTGTTCGCCTT 0.383 15 140 --- --- --- --- PASS TPTE 7179 broad.mit.edu 37 21 10943022 10943022 + Splice_Site SNP T C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr21:10943022T>C uc002yip.1 - 12 935 c.567_splice c.e12-1 p.R189_splice TPTE_uc002yis.1_Splice_Site|TPTE_uc002yiq.1_Splice_Site_p.R171_splice|TPTE_uc002yir.1_Splice_Site_p.R151_splice|TPTE_uc010gkv.1_Splice_Site_p.R51_splice NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TGTGTCCATCTAAGAATAAAT 0.244 6 69 --- --- --- --- PASS KRTAP13-4 284827 broad.mit.edu 37 21 31802740 31802740 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr21:31802740G>A uc011acw.1 + 1 147 c.147G>A c.(145-147)AGG>AGA p.R49R NM_181600 NP_853631 Q3LI77 KR134_HUMAN keratin associated protein 13-4 49 1.|4 X 10 AA approximate repeats. intermediate filament 0 CTCTCTACAGGGACTGTCAGA 0.627 19 77 --- --- --- --- PASS KRTAP6-1 337966 broad.mit.edu 37 21 31986073 31986073 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr21:31986073A>T uc002yop.2 - 1 151 c.151T>A c.(151-153)TAT>AAT p.Y51N KRTAP20-1_uc011ade.1_5'Flank NM_181602 NP_853633 Q3LI64 KRA61_HUMAN keratin associated protein 6-1 51 cytosol|intermediate filament 0 CGGGAGCCATAGCCATAGCCA 0.597 16 69 --- --- --- --- PASS PCNT 5116 broad.mit.edu 37 21 47841961 47841961 + Missense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr21:47841961C>T uc002zji.3 + 32 7209 c.7102C>T c.(7102-7104)CCT>TCT p.P2368S PCNT_uc002zjj.2_Missense_Mutation_p.P2250S NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 2368 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) TCCTGTGACCCCTGCTTCCAT 0.612 23 77 --- --- --- --- PASS PRMT2 3275 broad.mit.edu 37 21 48068369 48068369 + Splice_Site SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr21:48068369G>T uc002zjx.2 + 6 642 c.328_splice c.e6-1 p.K110_splice PRMT2_uc002zjw.2_Splice_Site_p.K110_splice|PRMT2_uc002zjy.2_Splice_Site_p.K110_splice|PRMT2_uc010gqm.2_Splice_Site_p.K110_splice|PRMT2_uc011aga.1_Splice_Site_p.K110_splice|PRMT2_uc011agb.1_Splice_Site_p.K110_splice|PRMT2_uc011agc.1_Splice_Site_p.K110_splice|PRMT2_uc002zjz.1_Splice_Site NM_206962 NP_996845 P55345 ANM2_HUMAN HMT1 hnRNP methyltransferase-like 1 developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway cytosol|nucleus androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity ovary(1) 1 Breast(49;0.247) Lung NSC(3;0.245) Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248) ATTTCTTCCAGAAACTCCACT 0.502 16 51 --- --- --- --- PASS ZDHHC8 29801 broad.mit.edu 37 22 20132768 20132768 + Nonsense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:20132768A>T uc002zrq.2 + 11 2249 c.2143A>T c.(2143-2145)AAG>TAG p.K715* ZDHHC8_uc002zrr.1_Intron|ZDHHC8_uc010gsa.2_Nonsense_Mutation_p.K521* NM_013373 NP_037505 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC domain containing 8 715 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Colorectal(54;0.0993) CCCTCAGCTGAAGACTCCCCC 0.632 55 274 --- --- --- --- PASS SLC2A11 66035 broad.mit.edu 37 22 24224728 24224728 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:24224728C>T uc002zyn.3 + 7 867 c.768C>T c.(766-768)TGC>TGT p.C256C SLC2A11_uc002zyl.1_Silent_p.C263C|SLC2A11_uc002zym.3_Silent_p.C263C|SLC2A11_uc002zyo.3_RNA|SLC2A11_uc011ajc.1_Silent_p.C263C|SLC2A11_uc002zyp.3_Silent_p.C259C NM_001024938 NP_001020109 Q9BYW1 GTR11_HUMAN glucose transporter protein 10 isoform c 256 Cytoplasmic (Potential). integral to membrane|plasma membrane sugar transmembrane transporter activity ovary(1) 1 GCCAGGGCTGCCGTGCCCGGC 0.701 4 17 --- --- --- --- PASS SUSD2 56241 broad.mit.edu 37 22 24579183 24579183 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:24579183G>T uc002zzn.1 + 2 279 c.235G>T c.(235-237)GTG>TTG p.V79L NM_019601 NP_062547 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 precursor 79 Extracellular (Potential). immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity skin(1) 1 CAAGGACTTTGTGGTGCGGCA 0.637 9 68 --- --- --- --- PASS TMEM211 255349 broad.mit.edu 37 22 25331384 25331384 + Silent SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:25331384G>A uc003abk.1 - 3 331 c.306C>T c.(304-306)CCC>CCT p.P102P NM_001001663 NP_001001663 Q6ICI0 TM211_HUMAN transmembrane protein 211 173 integral to membrane 0 TGGTTGTGTGGGGCCAGCTGA 0.522 18 92 --- --- --- --- PASS C22orf42 150297 broad.mit.edu 37 22 32546983 32546983 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:32546983G>T uc003amd.2 - 6 530 c.489C>A c.(487-489)GAC>GAA p.D163E NM_001010859 NP_001010859 Q6IC83 CV042_HUMAN chromosome 22 open reading frame 42 163 ovary(1)|skin(1) 2 ACGTACGGTGGTCGTGCTTGG 0.249 40 63 --- --- --- --- PASS TRIOBP 11078 broad.mit.edu 37 22 38122339 38122339 + Missense_Mutation SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:38122339G>C uc003atr.2 + 7 4047 c.3776G>C c.(3775-3777)GGG>GCG p.G1259A TRIOBP_uc003atu.2_Missense_Mutation_p.G1087A|TRIOBP_uc003atq.1_Missense_Mutation_p.G1259A|TRIOBP_uc003ats.1_Missense_Mutation_p.G1087A NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 1259 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) GCGCCTCCCGGGGAGACCAGG 0.721 12 26 --- --- --- --- PASS PLA2G6 8398 broad.mit.edu 37 22 38529009 38529009 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr22:38529009C>A uc003auy.1 - 7 1042 c.906G>T c.(904-906)ATG>ATT p.M302I PLA2G6_uc003auz.1_Missense_Mutation_p.M302I|PLA2G6_uc003ava.1_Missense_Mutation_p.M302I|PLA2G6_uc003avb.2_Missense_Mutation_p.M302I|PLA2G6_uc010gxk.1_RNA|PLA2G6_uc011ano.1_Missense_Mutation_p.M267I NM_003560 NP_003551 O60733 PA2G6_HUMAN phospholipase A2, group VI isoform a 302 ANK 5. cardiolipin biosynthetic process|cell death|lipid catabolic process centrosome|membrane ovary(1) 1 Melanoma(58;0.045) Quinacrine(DB01103) GTTTCAGCAGCATGCGGGCCA 0.662 3 3 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17746069 17746069 + Silent SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:17746069C>T uc004cxx.2 + 6 4118 c.3780C>T c.(3778-3780)CGC>CGT p.R1260R NHS_uc011mix.1_Silent_p.R1281R|NHS_uc004cxy.2_Silent_p.R1104R|NHS_uc004cxz.2_Silent_p.R1083R|NHS_uc004cya.2_Silent_p.R983R NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1260 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) CTGCTGCCCGCCCAAATGATT 0.478 64 65 --- --- --- --- PASS SMS 6611 broad.mit.edu 37 X 21990682 21990682 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:21990682G>A uc004dag.2 + 4 423 c.322G>A c.(322-324)GTG>ATG p.V108M SMS_uc011mjq.1_Missense_Mutation_p.V12M|SMS_uc004daf.1_Intron NM_004595 NP_004586 P52788 SPSY_HUMAN spermine synthase 108 methionine metabolic process|spermine biosynthetic process cytosol spermidine synthase activity|spermine synthase activity ovary(1) 1 Spermine(DB00127) TACTGGGCGGGTGAAACGGTA 0.284 14 23 --- --- --- --- PASS FAM47B 170062 broad.mit.edu 37 X 34962363 34962363 + Missense_Mutation SNP T G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:34962363T>G uc004ddi.1 + 1 1433 c.1415T>G c.(1414-1416)CTA>CGA p.L472R NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 472 ovary(3)|breast(1) 4 GCTGGAGACCTAGGAGTTAAT 0.448 68 79 --- --- --- --- PASS ERAS 3266 broad.mit.edu 37 X 48687603 48687603 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:48687603G>A uc004dky.1 + 1 321 c.70G>A c.(70-72)GAA>AAA p.E24K NM_181532 NP_853510 Q7Z444 RASE_HUMAN ES cell expressed Ras precursor 24 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity lung(4)|urinary_tract(1) 5 CTTCCAGGGGGAAACCCACCG 0.657 12 5 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73962784 73962784 + Silent SNP G C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:73962784G>C uc004eby.2 - 3 2225 c.1608C>G c.(1606-1608)CCC>CCG p.P536P NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 536 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 TAATAACAGGGGGCTCCTTAC 0.413 61 55 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73962785 73962785 + Missense_Mutation SNP G T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:73962785G>T uc004eby.2 - 3 2224 c.1607C>A c.(1606-1608)CCC>CAC p.P536H NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 536 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 AATAACAGGGGGCTCCTTACG 0.413 61 54 --- --- --- --- PASS KIAA2022 340533 broad.mit.edu 37 X 73963889 73963889 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:73963889C>A uc004eby.2 - 3 1120 c.503G>T c.(502-504)GGT>GTT p.G168V NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 168 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 ATTTAGATCACCAACTTTCAG 0.448 31 47 --- --- --- --- PASS LPAR4 2846 broad.mit.edu 37 X 78010584 78010584 + Missense_Mutation SNP A T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:78010584A>T uc010nme.2 + 2 623 c.218A>T c.(217-219)GAG>GTG p.E73V NM_005296 NP_005287 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 73 Cytoplasmic (Potential). integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled ovary(3) 3 ATGAGAAGTGAGACTGCTATT 0.383 134 145 --- --- --- --- PASS RPS6KA6 27330 broad.mit.edu 37 X 83371242 83371242 + Missense_Mutation SNP A C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:83371242A>C uc004eej.1 - 12 1080 c.1003T>G c.(1003-1005)TGG>GGG p.W335G RPS6KA6_uc011mqt.1_Missense_Mutation_p.W335G|RPS6KA6_uc011mqu.1_Missense_Mutation_p.W232G NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 335 AGC-kinase C-terminal. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 CTTACATCCCAGTCAATATTT 0.239 22 42 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91132998 91132998 + Missense_Mutation SNP G A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:91132998G>A uc004efk.1 + 2 2604 c.1759G>A c.(1759-1761)GGT>AGT p.G587S PCDH11X_uc004efl.1_Missense_Mutation_p.G587S|PCDH11X_uc004efo.1_Missense_Mutation_p.G587S|PCDH11X_uc010nmv.1_Missense_Mutation_p.G587S|PCDH11X_uc004efm.1_Missense_Mutation_p.G587S|PCDH11X_uc004efn.1_Missense_Mutation_p.G587S|PCDH11X_uc004efh.1_Missense_Mutation_p.G587S|PCDH11X_uc004efj.1_Missense_Mutation_p.G587S NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 587 Extracellular (Potential).|Cadherin 6. homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 TCCAAGGCATGGTACAGTAGG 0.388 75 67 --- --- --- --- PASS PCDH11X 27328 broad.mit.edu 37 X 91873532 91873532 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:91873532C>A uc004efk.1 + 7 4482 c.3637C>A c.(3637-3639)CCG>ACG p.P1213T PCDH11X_uc004efl.1_Missense_Mutation_p.P1203T|PCDH11X_uc004efo.1_Missense_Mutation_p.P1176T|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.P1205T|PCDH11X_uc004efn.1_Missense_Mutation_p.P1195T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1213 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CAGCCCACCACCGATACAGGT 0.597 89 87 --- --- --- --- PASS NRK 203447 broad.mit.edu 37 X 105153423 105153423 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:105153423A>G uc004emd.2 + 13 2093 c.1790A>G c.(1789-1791)CAT>CGT p.H597R NRK_uc010npc.1_Missense_Mutation_p.H265R NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 597 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 CAAGATCACCATGTGCTGTTG 0.532 HNSCC(51;0.14) 6 29 --- --- --- --- PASS GRIA3 2892 broad.mit.edu 37 X 122387382 122387382 + Missense_Mutation SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:122387382A>G uc004etq.3 + 4 790 c.497A>G c.(496-498)GAC>GGC p.D166G GRIA3_uc004etr.3_Missense_Mutation_p.D166G|GRIA3_uc004ets.3_RNA|GRIA3_uc011muf.1_Missense_Mutation_p.D150G NM_007325 NP_015564 P42263 GRIA3_HUMAN glutamate receptor, ionotrophic, AMPA 3 isoform 166 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) TACCTCTATGACACAGAACGA 0.453 69 65 --- --- --- --- PASS ODZ1 10178 broad.mit.edu 37 X 123525965 123525965 + Silent SNP A G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:123525965A>G uc004euj.2 - 27 5668 c.5604T>C c.(5602-5604)AGT>AGC p.S1868S ODZ1_uc011muj.1_Silent_p.S1874S|ODZ1_uc010nqy.2_Silent_p.S1875S NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1868 Extracellular (Potential).|YD 7. immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 TAATTTTCCCACTCTGGTCAT 0.358 67 74 --- --- --- --- PASS IGSF1 3547 broad.mit.edu 37 X 130408582 130408582 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:130408582C>A uc004ewd.2 - 18 3980 c.3742G>T c.(3742-3744)GGG>TGG p.G1248W IGSF1_uc004ewe.3_Missense_Mutation_p.G1242W|IGSF1_uc004ewf.2_Missense_Mutation_p.G1228W NM_001555 NP_001546 Q8N6C5 IGSF1_HUMAN immunoglobulin superfamily, member 1 isoform 1 1248 Extracellular (Potential). regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding ovary(3)|lung(1)|central_nervous_system(1) 5 CCTGCTGCCCCCACCAGCTCC 0.547 88 101 --- --- --- --- PASS ZIC3 7547 broad.mit.edu 37 X 136649618 136649618 + Silent SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:136649618C>A uc004fak.2 + 1 1273 c.768C>A c.(766-768)ATC>ATA p.I256I NM_003413 NP_003404 O60481 ZIC3_HUMAN zinc finger protein of the cerebellum 3 256 C2H2-type 1; atypical. cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) GCAAGTGGATCGACGAGGCTC 0.617 29 49 --- --- --- --- PASS F9 2158 broad.mit.edu 37 X 138630563 138630563 + Missense_Mutation SNP T A A rs104894807 TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:138630563T>A uc004fas.1 + 5 462 c.433T>A c.(433-435)TGT>AGT p.C145S F9_uc004fat.1_Missense_Mutation_p.C107S NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 145 EGF-like 2. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) CGAGCAGTTTTGTAAAAATAG 0.373 57 80 --- --- --- --- PASS MCF2 4168 broad.mit.edu 37 X 138711968 138711968 + Missense_Mutation SNP C A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:138711968C>A uc004fau.2 - 4 618 c.324G>T c.(322-324)ATG>ATT p.M108I MCF2_uc004fav.2_Missense_Mutation_p.M108I|MCF2_uc011mwl.1_Missense_Mutation_p.M69I|MCF2_uc010nsh.1_Missense_Mutation_p.M108I|MCF2_uc011mwm.1_Missense_Mutation_p.M69I|MCF2_uc011mwn.1_Missense_Mutation_p.M253I|MCF2_uc004faw.2_Missense_Mutation_p.M168I|MCF2_uc011mwo.1_Missense_Mutation_p.M168I NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 108 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) ACATCTGAGCCATTTCTTTCA 0.403 160 164 --- --- --- --- PASS SOX3 6658 broad.mit.edu 37 X 139586695 139586695 + Nonsense_Mutation SNP C T T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:139586695C>T uc004fbd.1 - 1 531 c.531G>A c.(529-531)TGG>TGA p.W177* NM_005634 NP_005625 P41225 SOX3_HUMAN SRY (sex determining region Y)-box 3 177 HMG box. face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent nucleus DNA binding pancreas(1) 1 Acute lymphoblastic leukemia(192;7.65e-05) TCAGCAGTTTCCAGTCGGCGC 0.602 5 124 --- --- --- --- PASS VENTXP7 391518 broad.mit.edu 37 3 21448049 21448049 + RNA DEL C - - TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr3:21448049delC uc003ccd.2 + 1 c.832delC NR_002311 Homo sapiens VENT homeobox (Xenopus laevis) pseudogene 7 (VENTXP7), non-coding RNA. 0 CTGTGCAGATCGCATCTGACG 0.592 2 4 --- --- --- --- OR10C1 442194 broad.mit.edu 37 6 29407970 29407970 + Frame_Shift_Del DEL T - - rs115316507 byFrequency TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr6:29407970delT uc011dlp.1 + 1 178 c.178delT c.(178-180)TTCfs p.F60fs OR11A1_uc010jrh.1_Intron NM_013941 NP_039229 Q96KK4 O10C1_HUMAN olfactory receptor, family 10, subfamily C, 60 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CCCTATGTACTTCTTCCTGCG 0.567 82 65 --- --- --- --- RGS22 26166 broad.mit.edu 37 8 101078415 101078415 + Frame_Shift_Del DEL G - - TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr8:101078415delG uc003yjb.1 - 7 899 c.704delC c.(703-705)CCAfs p.P235fs RGS22_uc003yja.1_Frame_Shift_Del_p.P54fs|RGS22_uc003yjc.1_Frame_Shift_Del_p.P223fs|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 235 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGAAATAGCTGGTGATTTAAG 0.343 90 58 --- --- --- --- PTEN 5728 broad.mit.edu 37 10 89720828 89720828 + Frame_Shift_Del DEL A - - TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr10:89720828delA uc001kfb.2 + 9 2010 c.979delA c.(979-981)AAAfs p.K327fs NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 327 C2 tensin-type. KANKDKANR->AAGADAANA: Reduces growth suppression activity and promotes anchorage-independent growth. Reduces binding to phospholipid membranes in vitro; phosphatase activity towards PtdIns(3,4,5)P3 is not affected. activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.D326fs*4(1)|p.W274_F341del(1)|p.D326_K342del(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) TGATCTTGACAAAGCAAATAA 0.328 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 120 97 --- --- --- --- APOA5 116519 broad.mit.edu 37 11 116661456 116661457 + Frame_Shift_Ins INS - A A TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:116661456_116661457insA uc001ppr.2 - 3 496_497 c.488_489insT c.(487-489)CTGfs p.L163fs ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Frame_Shift_Ins_p.L163fs|APOA5_uc009yzf.2_Frame_Shift_Ins_p.L163fs|APOA5_uc009yzg.2_Frame_Shift_Ins_p.L189fs NM_052968 NP_443200 Q6Q788 APOA5_HUMAN apolipoprotein AV precursor 163 acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding 0 all_hematologic(175;0.0487) all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149) CCACGCCCCCCAGCAACTGGGC 0.649 103 62 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130284669 130284670 + Frame_Shift_Ins INS - C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr11:130284669_130284670insC uc001qgg.3 - 5 1680_1681 c.1322_1323insG c.(1321-1323)GGCfs p.G441fs ADAMTS8_uc001qgf.2_5'Flank NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 441 Disintegrin. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGCCATGCGGCCCGGGAGGCC 0.653 42 29 --- --- --- --- MLL2 8085 broad.mit.edu 37 12 49431484 49431484 + Frame_Shift_Del DEL C - - TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr12:49431484delC uc001rta.3 - 34 9655 c.9655delG c.(9655-9657)GCTfs p.A3219fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3219 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 AAGGTCAAAGCCCCACTCTCG 0.607 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 4 8 --- --- --- --- NYNRIN 57523 broad.mit.edu 37 14 24884692 24884693 + Frame_Shift_Ins INS - G G TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr14:24884692_24884693insG uc001wpf.3 + 9 4055_4056 c.3737_3738insG c.(3736-3738)GAGfs p.E1246fs NM_025081 NP_079357 Q9P2P1 NYNRI_HUMAN hypothetical protein LOC57523 1246 DNA integration integral to membrane DNA binding ovary(2)|central_nervous_system(1) 3 GAGGTGCGGGAGGGCCGCAGGG 0.629 25 19 --- --- --- --- ALPK2 115701 broad.mit.edu 37 18 56203118 56203118 + Frame_Shift_Del DEL C - - TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr18:56203118delC uc002lhj.3 - 5 4515 c.4301delG c.(4300-4302)GGTfs p.G1434fs ALPK2_uc002lhk.1_Frame_Shift_Del_p.G765fs NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1434 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 ATTTGATTGACCCCCTTCTCT 0.502 64 50 --- --- --- --- EEF2 1938 broad.mit.edu 37 19 3980012 3980013 + Frame_Shift_Del DEL CA - - TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chr19:3980012_3980013delCA uc002lze.2 - 10 1481_1482 c.1398_1399delTG c.(1396-1401)TGTGGGfs p.C466fs NM_001961 NP_001952 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 466_467 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) ACAATGTTCCCACAAGGCACAT 0.594 42 36 --- --- --- --- MAGEB3 4114 broad.mit.edu 37 X 30254770 30254771 + Frame_Shift_Ins INS - C C TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 Somatic Phase_I Capture Illumina GAIIx 08732b51-8ec8-4888-b0c8-a0cb83181cb9 12096a0b-5d7b-455a-84d5-cd136811d54f g.chrX:30254770_30254771insC uc004dca.1 + 5 1466_1467 c.729_730insC c.(727-732)GAGCCCfs p.E243fs NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 243_244 MAGE. 0 TATTTGGGGAGCCCAGAAAGCT 0.455 19 21 --- --- --- ---