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 CAMTA1 23261 broad.mit.edu 37 1 7724962 7724962 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:7724962G>A uc001aoi.2 + 9 2562 c.2355G>A c.(2353-2355)GGG>GGA p.G785G NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN calmodulin-binding transcription activator 1 785 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1) 9 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CCGTGGAGGGGGGCAGCAGCA 0.627 84 173 --- --- --- --- PASS H6PD 9563 broad.mit.edu 37 1 9323588 9323588 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:9323588A>G uc001apt.2 + 5 1309 c.1036A>G c.(1036-1038)AAC>GAC p.N346D NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 346 Glucose 1-dehydrogenase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GCACATTGACAACCTTCGCTG 0.607 27 42 --- --- --- --- PASS KIF17 57576 broad.mit.edu 37 1 21031280 21031280 + Silent SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:21031280G>C uc001bdr.3 - 5 901 c.783C>G c.(781-783)ACC>ACG p.T261T KIF17_uc001bds.3_Silent_p.T261T NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 261 Kinesin-motor. 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) GGTTGATCTTGGTGGCCTCCT 0.682 34 49 --- --- --- --- PASS EIF4G3 8672 broad.mit.edu 37 1 21139701 21139701 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:21139701G>C uc001bec.2 - 30 4635 c.4379C>G c.(4378-4380)CCT>CGT p.P1460R EIF4G3_uc010odi.1_Missense_Mutation_p.P1064R|EIF4G3_uc010odj.1_Missense_Mutation_p.P1459R|EIF4G3_uc009vpz.2_Missense_Mutation_p.P1180R|EIF4G3_uc001bed.2_Missense_Mutation_p.P1460R|EIF4G3_uc001bef.2_Missense_Mutation_p.P1496R|EIF4G3_uc001bee.2_Missense_Mutation_p.P1466R NM_003760 NP_003751 O43432 IF4G3_HUMAN eukaryotic translation initiation factor 4 1460 EIF4A-binding (By similarity).|W2. interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process eukaryotic translation initiation factor 4F complex protein binding|RNA cap binding|translation initiation factor activity skin(1) 1 all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191) AAGGAATGTAGGTGAACTCAT 0.308 14 30 --- --- --- --- PASS EPHB2 2048 broad.mit.edu 37 1 23189667 23189667 + Missense_Mutation SNP C A A rs150415344 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:23189667C>A uc009vqj.1 + 4 1094 c.949C>A c.(949-951)CTG>ATG p.L317M EPHB2_uc001bge.2_Missense_Mutation_p.L317M|EPHB2_uc001bgf.2_Missense_Mutation_p.L317M|EPHB2_uc010odu.1_Missense_Mutation_p.L317M|hsa-mir-4253|MI0015860_RNA NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 317 Extracellular (Potential).|Cys-rich. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCTGGACCCCCTGGACATGCC 0.597 Hereditary_Prostate_Cancer 20 32 --- --- --- --- PASS RHD 6007 broad.mit.edu 37 1 25599144 25599144 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:25599144G>A uc001bjz.2 + 1 164 c.106G>A c.(106-108)GCT>ACT p.A36T RHD_uc010oep.1_Missense_Mutation_p.A36T|RHD_uc001bkc.2_Missense_Mutation_p.A36T|RHD_uc009vrm.2_5'UTR|RHD_uc001bka.2_Missense_Mutation_p.A36T|RHD_uc001bkb.2_Missense_Mutation_p.A36T|RHD_uc009vrn.2_Missense_Mutation_p.A36T|RHD_uc009vro.2_Missense_Mutation_p.A36T|RHD_uc009vrp.2_Missense_Mutation_p.A36T NM_016124 NP_057208 Q02161 RHD_HUMAN Rh blood group D antigen isoform 1 36 integral to plasma membrane breast(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936) UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCACTATGACGCTTCCTTAGA 0.547 10 62 --- --- --- --- PASS RSPO1 284654 broad.mit.edu 37 1 38082241 38082241 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:38082241G>T uc001cbl.1 - 5 989 c.201C>A c.(199-201)AAC>AAA p.N67K RSPO1_uc001cbm.1_Missense_Mutation_p.N67K|RSPO1_uc009vvf.1_Missense_Mutation_p.N40K|RSPO1_uc009vvg.1_Missense_Mutation_p.N67K NM_001038633 NP_001033722 Q2MKA7 RSPO1_HUMAN R-spondin1 precursor 67 FU 1. positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCGGATGTCGTTCCTCTCCA 0.617 15 53 --- --- --- --- PASS TIE1 7075 broad.mit.edu 37 1 43775104 43775104 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:43775104G>C uc001ciu.2 + 9 1313 c.1234G>C c.(1234-1236)GAG>CAG p.E412Q TIE1_uc010okd.1_Missense_Mutation_p.E412Q|TIE1_uc010oke.1_Missense_Mutation_p.E367Q|TIE1_uc009vwq.2_Missense_Mutation_p.E368Q|TIE1_uc010okf.1_Missense_Mutation_p.E57Q|TIE1_uc010okg.1_Missense_Mutation_p.E57Q|TIE1_uc010okc.1_3'UTR NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 412 Ig-like C2-type 2.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) AGCTGAGTTCGAGGTGCCCCG 0.597 10 27 --- --- --- --- PASS ZSWIM5 57643 broad.mit.edu 37 1 45501360 45501360 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:45501360C>T uc001cnd.2 - 10 2519 c.2291G>A c.(2290-2292)AGG>AAG p.R764K NM_020883 NP_065934 Q9P217 ZSWM5_HUMAN zinc finger, SWIM domain containing 5 764 zinc ion binding 0 Acute lymphoblastic leukemia(166;0.155) GGCTACCCACCTCATGGCACG 0.463 15 17 --- --- --- --- PASS PRDX1 5052 broad.mit.edu 37 1 45980646 45980646 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:45980646T>C uc001cnz.2 - 3 314 c.282A>G c.(280-282)CAA>CAG p.Q94Q PRDX1_uc001coa.2_Silent_p.Q94Q|PRDX1_uc001cob.2_Silent_p.Q94Q|PRDX1_uc001coc.2_Silent_p.Q94Q NM_181697 NP_859048 Q06830 PRDX1_HUMAN peroxiredoxin 1 94 Thioredoxin. cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development melanosome|mitochondrion|nucleus protein binding|thioredoxin peroxidase activity 0 Acute lymphoblastic leukemia(166;0.155) CCAGTCCTCCTTGTTTCTTAG 0.453 55 105 --- --- --- --- PASS LPPR5 163404 broad.mit.edu 37 1 99422237 99422237 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:99422237G>T uc001dsb.2 - 2 520 c.298C>A c.(298-300)CAG>AAG p.Q100K LPPR5_uc001dsc.2_Missense_Mutation_p.Q100K NM_001037317 NP_001032394 Q32ZL2 LPPR5_HUMAN phosphatidic acid phosphatase type 2d isoform 1 100 integral to membrane hydrolase activity 0 GTTTTTTCCTGGTTTTCAAAA 0.328 16 38 --- --- --- --- PASS KCNC4 3749 broad.mit.edu 37 1 110754721 110754721 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:110754721C>A uc001dzh.2 + 1 657 c.600C>A c.(598-600)GCC>GCA p.A200A KCNC4_uc001dzf.2_Silent_p.A200A|KCNC4_uc009wfr.2_Silent_p.A200A|KCNC4_uc001dzg.2_Silent_p.A200A|KCNC4_uc001dzi.2_RNA NM_004978 NP_004969 Q03721 KCNC4_HUMAN Shaw-related voltage-gated potassium channel 200 Cytoplasmic (Potential). synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135) GCCATGGCGCCGGGTCTGGGG 0.771 4 4 --- --- --- --- PASS TARS2 80222 broad.mit.edu 37 1 150477408 150477408 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:150477408T>C uc001euq.2 + 16 1854 c.1847T>C c.(1846-1848)GTG>GCG p.V616A TARS2_uc001eur.2_Missense_Mutation_p.V534A|TARS2_uc009wlt.2_Missense_Mutation_p.V242A|TARS2_uc009wls.2_Missense_Mutation_p.V486A NM_025150 NP_079426 Q9BW92 SYTM_HUMAN threonyl-tRNA synthetase 2, mitochondrial 616 threonyl-tRNA aminoacylation mitochondrial matrix ATP binding|threonine-tRNA ligase activity ovary(1) 1 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) L-Threonine(DB00156) CCGTTCCAGGTGGTGGTCATC 0.552 13 39 --- --- --- --- PASS RPTN 126638 broad.mit.edu 37 1 152129048 152129048 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:152129048T>A uc001ezs.1 - 3 592 c.527A>T c.(526-528)CAA>CTA p.Q176L NM_001122965 NP_001116437 Q6XPR3 RPTN_HUMAN repetin 176 Gln-rich. proteinaceous extracellular matrix calcium ion binding 0 ATCTCTGTCTTGTCTCTCAGG 0.468 205 195 --- --- --- --- PASS HCN3 57657 broad.mit.edu 37 1 155252407 155252407 + Missense_Mutation SNP C T T rs34277242 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:155252407C>T uc001fjz.1 + 2 492 c.484C>T c.(484-486)CGG>TGG p.R162W RAG1AP1_uc010pey.1_Intron|HCN3_uc010pfz.1_5'UTR NM_020897 NP_065948 Q9P1Z3 HCN3_HUMAN hyperpolarization activated cyclic 162 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1)|breast(1) 2 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GCTGGCACCGCGGGCCATCCG 0.567 37 53 --- --- --- --- PASS KLHL20 27252 broad.mit.edu 37 1 173703000 173703000 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:173703000A>T uc001gjc.2 + 3 351 c.172A>T c.(172-174)ATT>TTT p.I58F KLHL20_uc010pmr.1_Intron|KLHL20_uc009wwf.2_Missense_Mutation_p.I40F|KLHL20_uc001gjd.2_Missense_Mutation_p.I58F NM_014458 NP_055273 Q9Y2M5 KLH20_HUMAN kelch-like 20 58 cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body actin binding|interferon-gamma binding|ubiquitin-protein ligase activity ovary(1) 1 CTTGGAAGTGATTAACCTTCT 0.527 19 77 --- --- --- --- PASS RC3H1 149041 broad.mit.edu 37 1 173907969 173907969 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:173907969T>A uc001gju.3 - 19 3379 c.3292A>T c.(3292-3294)AGC>TGC p.S1098C RC3H1_uc010pms.1_Missense_Mutation_p.S1089C|RC3H1_uc001gjv.2_Missense_Mutation_p.S1090C|RC3H1_uc010pmt.1_Missense_Mutation_p.S1099C NM_172071 NP_742068 Q5TC82 RC3H1_HUMAN roquin 1098 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 GATAGGAGGCTGATATTCTCT 0.413 52 46 --- --- --- --- PASS DHX9 1660 broad.mit.edu 37 1 182812436 182812436 + Missense_Mutation SNP T G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:182812436T>G uc001gpr.2 + 3 282 c.119T>G c.(118-120)GTG>GGG p.V40G DHX9_uc001gps.2_5'UTR NM_001357 NP_001348 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 9 40 DRBM 1.|Interaction with CREBBP. CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding ovary(2) 2 AAGGTTCAGGTGGAAGGTTAT 0.333 7 32 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186072723 186072723 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:186072723G>T uc001grq.1 + 69 10922 c.10693G>T c.(10693-10695)GAT>TAT p.D3565Y NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3565 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CTGGATGAAAGATGGCCGGCC 0.438 27 24 --- --- --- --- PASS HMCN1 83872 broad.mit.edu 37 1 186072724 186072724 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:186072724A>T uc001grq.1 + 69 10923 c.10694A>T c.(10693-10695)GAT>GTT p.D3565V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 3565 Ig-like C2-type 34. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TGGATGAAAGATGGCCGGCCC 0.438 27 22 --- --- --- --- PASS KCNT2 343450 broad.mit.edu 37 1 196461394 196461394 + Nonsense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:196461394G>C uc001gtd.1 - 2 233 c.173C>G c.(172-174)TCA>TGA p.S58* KCNT2_uc001gte.1_Nonsense_Mutation_p.S58*|KCNT2_uc001gtf.1_Nonsense_Mutation_p.S58*|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Nonsense_Mutation_p.S58*|KCNT2_uc009wyv.1_Nonsense_Mutation_p.S58* NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 58 Cytoplasmic (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 TAACTTACTTGATCTCTGGTT 0.259 5 6 --- --- --- --- PASS CRB1 23418 broad.mit.edu 37 1 197404496 197404496 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:197404496G>A uc001gtz.2 + 9 3638 c.3503G>A c.(3502-3504)GGA>GAA p.G1168E CRB1_uc010poz.1_Missense_Mutation_p.G1144E|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.G1056E|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.G649E|CRB1_uc001gub.1_Missense_Mutation_p.G817E NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1168 Extracellular (Potential).|EGF-like 15. 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 TGTCCCTTGGGATGGTCAGGG 0.473 10 40 --- --- --- --- PASS NAV1 89796 broad.mit.edu 37 1 201687855 201687855 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:201687855A>T uc001gwu.2 + 3 1545 c.1198A>T c.(1198-1200)ATG>TTG p.M400L NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 400 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GGGCAAGACCATGACGGAGGA 0.582 47 39 --- --- --- --- PASS CR1L 1379 broad.mit.edu 37 1 207871122 207871122 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:207871122C>A uc001hga.3 + 7 1167 c.1046C>A c.(1045-1047)TCC>TAC p.S349Y CR1L_uc001hfz.2_RNA|CR1L_uc001hgb.1_RNA NM_175710 NP_783641 Q2VPA4 CR1L_HUMAN complement component (3b/4b) receptor 1-like 349 Sushi 6. cytoplasm|extracellular region|membrane 0 CCAGTGAAATCCTGTGATGAC 0.408 46 202 --- --- --- --- PASS KCNH1 3756 broad.mit.edu 37 1 210948775 210948775 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:210948775G>A uc001hib.2 - 10 2197 c.2027C>T c.(2026-2028)GCC>GTC p.A676V KCNH1_uc001hic.2_Missense_Mutation_p.A649V NM_172362 NP_758872 O95259 KCNH1_HUMAN potassium voltage-gated channel, subfamily H, 676 Cytoplasmic (Potential).|cNMP.|Calmodulin-binding. myoblast fusion|regulation of transcription, DNA-dependent voltage-gated potassium channel complex calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity ovary(4)|central_nervous_system(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185) TTTCTGCAGGGCATCCCGCTT 0.512 3 40 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216256872 216256872 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:216256872A>G uc001hku.1 - 26 5611 c.5224T>C c.(5224-5226)TTT>CTT p.F1742L NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 1742 Laminin G-like 2.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) CTGAACTTAAAGGAAATCTCA 0.299 HNSCC(13;0.011) 49 119 --- --- --- --- PASS USH2A 7399 broad.mit.edu 37 1 216595381 216595381 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:216595381G>A uc001hku.1 - 2 685 c.298C>T c.(298-300)CTT>TTT p.L100F USH2A_uc001hkv.2_Missense_Mutation_p.L100F NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 100 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTGAGAAAAGGGCAGTGTAG 0.453 HNSCC(13;0.011) 17 49 --- --- --- --- PASS RHOU 58480 broad.mit.edu 37 1 228873446 228873446 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:228873446G>A uc001htf.2 + 2 910 c.289G>A c.(289-291)GTG>ATG p.V97M NM_021205 NP_067028 Q7L0Q8 RHOU_HUMAN ras homolog gene family, member U 97 regulation of small GTPase mediated signal transduction cell projection|cytosol|focal adhesion|Golgi membrane|podosome GTP binding|metal ion binding|protein binding 0 Breast(184;0.162) Prostate(94;0.183) TGGGCGGCCCGTGAGACTCCA 0.443 25 37 --- --- --- --- PASS TAF5L 27097 broad.mit.edu 37 1 229738436 229738436 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:229738436C>A uc001htq.2 - 4 644 c.478G>T c.(478-480)GAT>TAT p.D160Y TAF5L_uc001htr.2_Missense_Mutation_p.D160Y NM_014409 NP_055224 O75529 TAF5L_HUMAN PCAF associated factor 65 beta isoform a 160 histone H3 acetylation|transcription from RNA polymerase II promoter STAGA complex|transcription factor TFTC complex sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1) 1 Breast(184;0.193)|Ovarian(103;0.249) Prostate(94;0.167) TACTTGTTATCTAGGAATGCT 0.468 63 66 --- --- --- --- PASS RYR2 6262 broad.mit.edu 37 1 237778080 237778080 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:237778080G>T uc001hyl.1 + 37 5772 c.5652G>T c.(5650-5652)AAG>AAT p.K1884N NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1884 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) AAGAAGCCAAGGGGGGCAAGC 0.512 17 21 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240256012 240256012 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:240256012G>A uc010pyd.1 + 1 828 c.603G>A c.(601-603)CAG>CAA p.Q201Q FMN2_uc010pye.1_Silent_p.Q201Q NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 201 Potential.|Gln-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ACATCCAGCAGGCGATCCGCC 0.428 8 32 --- --- --- --- PASS FMN2 56776 broad.mit.edu 37 1 240519117 240519117 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:240519117C>A uc010pyd.1 + 14 4992 c.4767C>A c.(4765-4767)GCC>GCA p.A1589A FMN2_uc010pye.1_Silent_p.A1593A|FMN2_uc010pyf.1_Intron|FMN2_uc010pyg.1_Silent_p.A185A NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1589 FH2.|Potential. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) TAATTTCAGCCTGTGAAGTTG 0.353 12 18 --- --- --- --- PASS RGS7 6000 broad.mit.edu 37 1 241146395 241146395 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:241146395T>C uc001hyv.2 - 4 540 c.210A>G c.(208-210)TTA>TTG p.L70L RGS7_uc010pyh.1_Silent_p.L44L|RGS7_uc010pyj.1_5'UTR|RGS7_uc001hyu.2_Silent_p.L70L|RGS7_uc009xgn.1_Silent_p.L70L|RGS7_uc001hyw.2_Silent_p.L70L NM_002924 NP_002915 P49802 RGS7_HUMAN regulator of G-protein signaling 7 70 DEP. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity ovary(4)|skin(2)|kidney(1) 7 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) CTTCTATAGTTAAGTTCTTTA 0.274 9 16 --- --- --- --- PASS SDCCAG8 10806 broad.mit.edu 37 1 243581361 243581361 + Silent SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:243581361A>G uc001hzw.2 + 15 1992 c.1836A>G c.(1834-1836)CAA>CAG p.Q612Q SDCCAG8_uc010pyk.1_Silent_p.Q467Q|SDCCAG8_uc010pyl.1_Silent_p.Q424Q|SDCCAG8_uc001hzx.2_Intron NM_006642 NP_006633 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 612 Mediates interaction with OFD1.|Gln-rich.|Potential.|Sufficient for homodimerization (By similarity). establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding 0 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) AACTGGAACAAATCTCTCAAA 0.328 17 54 --- --- --- --- PASS OR2M2 391194 broad.mit.edu 37 1 248343811 248343811 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr1:248343811C>A uc010pzf.1 + 1 524 c.524C>A c.(523-525)GCC>GAC p.A175D NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN olfactory receptor, family 2, subfamily M, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CGGGAAATAGCCCACTTCTTC 0.428 145 150 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 905530 905530 + RNA SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:905530T>A uc010ewg.2 - 1 c.53A>T uc010ewh.1_Missense_Mutation_p.E139V Homo sapiens cDNA FLJ46162 fis, clone TESTI4002520. TTTCATTTCCTCCCGGCCTCC 0.612 8 371 --- --- --- --- PASS XDH 7498 broad.mit.edu 37 2 31572970 31572970 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:31572970C>A uc002rnv.1 - 25 2830 c.2751G>T c.(2749-2751)GGG>GGT p.G917G NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 917 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) TCCCCTGGGGCCCCCCAAAGC 0.572 43 98 --- --- --- --- PASS FSHR 2492 broad.mit.edu 37 2 49190309 49190309 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:49190309G>A uc002rww.2 - 10 1725 c.1651C>T c.(1651-1653)CAC>TAC p.H551Y FSHR_uc002rwx.2_Missense_Mutation_p.H489Y|FSHR_uc010fbn.2_Missense_Mutation_p.H525Y NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 551 Cytoplasmic (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AGGTAGATGTGGATATAGCAG 0.532 Gonadal_Dysgenesis_46_XX 5 13 --- --- --- --- PASS CYP26B1 56603 broad.mit.edu 37 2 72360206 72360206 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:72360206C>A uc002sih.1 - 5 1092 c.1092G>T c.(1090-1092)CTG>CTT p.L364L CYP26B1_uc010yra.1_Silent_p.L347L|CYP26B1_uc010yrb.1_Silent_p.L289L NM_019885 NP_063938 Q9NR63 CP26B_HUMAN cytochrome P450, family 26, subfamily b, 364 cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding skin(2) 2 TGGGCGTGAACAGGCGCATGA 0.677 10 36 --- --- --- --- PASS Unknown 0 broad.mit.edu 37 2 89309502 89309502 + RNA SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:89309502A>T uc010ytr.1 - 74 c.6845T>A uc002stl.2_Intron Parts of antibodies, mostly variable regions. AGCTGTTGACAGTAATAAGTT 0.522 41 78 --- --- --- --- PASS GCC2 9648 broad.mit.edu 37 2 109087168 109087168 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:109087168T>C uc002tec.2 + 6 1537 c.1383T>C c.(1381-1383)GGT>GGC p.G461G GCC2_uc002ted.2_Silent_p.G360G NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 461 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 AAATACAGGGTCTTAAGGAAC 0.299 17 25 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141232773 141232773 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:141232773T>C uc002tvj.1 - 60 10531 c.9559A>G c.(9559-9561)AGA>GGA p.R3187G NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3187 Extracellular (Potential).|LDL-receptor class B 31. 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) CAGTAGAGTCTACGATTAACA 0.368 TSP Lung(27;0.18) 35 37 --- --- --- --- PASS LRP1B 53353 broad.mit.edu 37 2 141473550 141473550 + Silent SNP T A A rs148114444 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:141473550T>A uc002tvj.1 - 37 6987 c.6015A>T c.(6013-6015)CCA>CCT p.P2005P NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 2005 Extracellular (Potential).|LDL-receptor class B 20. 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) ACCCTTTCTCTGGGTGCACAG 0.328 TSP Lung(27;0.18) 26 45 --- --- --- --- PASS LRP2 4036 broad.mit.edu 37 2 170013975 170013975 + Silent SNP G A A rs143815721 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:170013975G>A uc002ues.2 - 64 12138 c.11925C>T c.(11923-11925)TGC>TGT p.C3975C NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 3975 EGF-like 14.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATTTTGCTCGCATATATTTT 0.383 9 15 --- --- --- --- PASS PGAP1 80055 broad.mit.edu 37 2 197777635 197777635 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:197777635G>A uc002utw.2 - 4 734 c.620C>T c.(619-621)CCT>CTT p.P207L PGAP1_uc002utx.2_Missense_Mutation_p.P33L|PGAP1_uc002uty.1_Missense_Mutation_p.P207L|PGAP1_uc010zgv.1_RNA|PGAP1_uc010fsj.2_Missense_Mutation_p.P33L NM_024989 NP_079265 Q75T13 PGAP1_HUMAN GPI deacylase 207 Lumenal (Potential). attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport integral to membrane|intrinsic to endoplasmic reticulum membrane nuclease activity|phosphoric ester hydrolase activity ovary(3)|central_nervous_system(1) 4 TGGCATCACAGGAGCAACATG 0.333 15 32 --- --- --- --- PASS PTPRN 5798 broad.mit.edu 37 2 220167078 220167078 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:220167078G>A uc002vkz.2 - 6 864 c.775C>T c.(775-777)CAC>TAC p.H259Y PTPRN_uc010zlc.1_Missense_Mutation_p.H169Y|PTPRN_uc002vla.2_Missense_Mutation_p.H259Y NM_002846 NP_002837 Q16849 PTPRN_HUMAN protein tyrosine phosphatase, receptor type, N 259 Extracellular (Potential). response to reactive oxygen species integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity p.H259Y(1) ovary(2)|lung(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875) CCGTAGGAGTGGCCAGGGTGG 0.637 8 14 --- --- --- --- PASS GPR55 9290 broad.mit.edu 37 2 231775189 231775189 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:231775189C>A uc002vrg.2 - 2 682 c.489G>T c.(487-489)GTG>GTT p.V163V GPR55_uc002vrf.2_RNA|GPR55_uc010fxs.1_Silent_p.V163V NM_005683 NP_005674 Q9Y2T6 GPR55_HUMAN G protein-coupled receptor 55 163 Extracellular (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) TGTATTTTTCCACTTTCCCAT 0.542 24 55 --- --- --- --- PASS AQP12A 375318 broad.mit.edu 37 2 241631698 241631698 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:241631698C>A uc002vzu.2 + 2 400 c.331C>A c.(331-333)CAG>AAG p.Q111K AQP12A_uc002vzv.2_RNA NM_198998 NP_945349 Q8IXF9 AQ12A_HUMAN aquaporin 12A 111 Helical; Name=3; (Potential). integral to membrane transporter activity 0 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757) GCTGGGCATGCAGGCCGCCTG 0.687 16 28 --- --- --- --- PASS CCR5 1234 broad.mit.edu 37 3 46414528 46414528 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:46414528T>C uc003cpo.3 + 3 257 c.135T>C c.(133-135)TTT>TTC p.F45F CCR5_uc010hjd.2_Silent_p.F45F NM_001100168 NP_001093638 P51681 CCR5_HUMAN chemokine (C-C motif) receptor 5 45 Helical; Name=1; (Potential). cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection endosome|external side of plasma membrane|integral to plasma membrane actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity lung(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02) Maraviroc(DB04835) TCTTTGGTTTTGTGGGCAACA 0.478 52 39 --- --- --- --- PASS OR5H14 403273 broad.mit.edu 37 3 97868652 97868652 + Silent SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:97868652C>T uc003dsg.1 + 1 423 c.423C>T c.(421-423)TGC>TGT p.C141C NM_001005514 NP_001005514 A6NHG9 O5H14_HUMAN olfactory receptor, family 5, subfamily H, 141 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 ATGGACTGTGCATCCGGCTAT 0.388 47 152 --- --- --- --- PASS DIRC2 84925 broad.mit.edu 37 3 122525799 122525799 + Splice_Site SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:122525799T>C uc003efw.3 + 2 576 c.437_splice c.e2+2 p.R146_splice DIRC2_uc010hrl.2_Splice_Site|DIRC2_uc010hrm.2_Intron NM_032839 NP_116228 Q96SL1 DIRC2_HUMAN disrupted in renal carcinoma 2 transport integral to membrane 0 GBM - Glioblastoma multiforme(114;0.0614) TAAAAGAAGGTAAATCCTGTA 0.328 25 24 --- --- --- --- PASS CEP63 80254 broad.mit.edu 37 3 134251738 134251738 + Missense_Mutation SNP T C C rs145156085 byFrequency TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:134251738T>C uc003eqo.1 + 6 886 c.437T>C c.(436-438)ATA>ACA p.I146T CEP63_uc003eql.1_Missense_Mutation_p.I146T|CEP63_uc003eqm.2_Missense_Mutation_p.I146T|CEP63_uc003eqn.1_Missense_Mutation_p.I146T NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 146 Potential. cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 ACTGCAAAAATAGAGGTATGT 0.358 14 21 --- --- --- --- PASS BCHE 590 broad.mit.edu 37 3 165504057 165504057 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:165504057G>A uc003fem.3 - 3 1720 c.1560C>T c.(1558-1560)GTC>GTT p.V520V BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 520 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) TGCTTTTGAAGACAGGCCAGC 0.318 14 58 --- --- --- --- PASS ECT2 1894 broad.mit.edu 37 3 172534584 172534584 + Missense_Mutation SNP A C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:172534584A>C uc003fii.2 + 23 2657 c.2519A>C c.(2518-2520)GAT>GCT p.D840A ECT2_uc003fih.2_Missense_Mutation_p.D839A|ECT2_uc003fij.1_Missense_Mutation_p.D840A|ECT2_uc003fik.1_Missense_Mutation_p.D840A|ECT2_uc003fil.1_Missense_Mutation_p.D871A|ECT2_uc003fim.1_Missense_Mutation_p.D139A NM_018098 NP_060568 Q9H8V3 ECT2_HUMAN epithelial cell transforming sequence 2 oncogene 840 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity|signal transducer activity breast(2)|ovary(1)|skin(1) 4 Ovarian(172;0.00197)|Breast(254;0.158) Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14) TCCAGCAATGATAAGCATGTA 0.388 33 113 --- --- --- --- PASS PEX5L 51555 broad.mit.edu 37 3 179754368 179754368 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:179754368T>A uc003fki.1 - 1 150 c.20A>T c.(19-21)CAG>CTG p.Q7L PEX5L_uc003fkj.1_Missense_Mutation_p.Q7L|PEX5L_uc010hxd.1_Missense_Mutation_p.Q7L|PEX5L_uc011bqg.1_Missense_Mutation_p.Q7L|PEX5L_uc011bqh.1_Missense_Mutation_p.Q7L NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 7 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) ATGTCTTACCTGCATGTGTCC 0.522 38 173 --- --- --- --- PASS ECE2 9718 broad.mit.edu 37 3 183975455 183975455 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr3:183975455G>T uc003fni.3 + 2 429 c.391G>T c.(391-393)GGC>TGC p.G131C ECE2_uc003fnh.3_Missense_Mutation_p.G131C NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 131 Cytoplasmic (Potential).|Methyltransferase-like region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCTCGAGAAGGGCACGCTGGA 0.617 11 61 --- --- --- --- PASS ZFYVE28 57732 broad.mit.edu 37 4 2306729 2306729 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:2306729C>A uc003gex.1 - 8 1657 c.1338G>T c.(1336-1338)GGG>GGT p.G446G ZFYVE28_uc011bvk.1_Silent_p.G376G|ZFYVE28_uc011bvl.1_Silent_p.G416G|ZFYVE28_uc003gew.1_Silent_p.G332G NM_020972 NP_066023 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 446 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding skin(2)|ovary(1) 3 GCAAGCTGATCCCCGCCGCTC 0.687 14 28 --- --- --- --- PASS HADH 3033 broad.mit.edu 37 4 108940716 108940716 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:108940716A>G uc003hyq.2 + 4 589 c.440A>G c.(439-441)AAC>AGC p.N147S HADH_uc010ilx.2_Missense_Mutation_p.N147S|HADH_uc010ily.2_5'UTR|HADH_uc003hyr.2_Missense_Mutation_p.N151S NM_005327 NP_005318 Q16836 HCDH_HUMAN L-3-hydroxyacyl-Coenzyme A dehydrogenase 147 fatty acid beta-oxidation mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding ovary(1) 1 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000168) NADH(DB00157) TTTGCCAGCAACACTTCCTCC 0.438 4 87 --- --- --- --- PASS PCDH10 57575 broad.mit.edu 37 4 134073843 134073843 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:134073843C>T uc003iha.2 + 1 3374 c.2548C>T c.(2548-2550)CAC>TAC p.H850Y PCDH10_uc003igz.2_Missense_Mutation_p.H850Y NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 850 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GGACACTGAGCACAACCCCTG 0.557 9 5 --- --- --- --- PASS FGB 2244 broad.mit.edu 37 4 155487721 155487721 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:155487721G>C uc003ioa.3 + 3 426 c.387G>C c.(385-387)GAG>GAC p.E129D FGB_uc010ipu.1_RNA|FGB_uc003iob.3_Missense_Mutation_p.E126D|FGB_uc010ipv.2_Missense_Mutation_p.E67D|FGB_uc010ipw.2_Missense_Mutation_p.E126D|FGB_uc003ioc.3_Intron NM_005141 NP_005132 P02675 FIBB_HUMAN fibrinogen, beta chain preproprotein 129 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|upper_aerodigestive_tract(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTGTTGATGAGTTAAATAACA 0.418 28 15 --- --- --- --- PASS TKTL2 84076 broad.mit.edu 37 4 164393493 164393493 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:164393493G>C uc003iqp.3 - 1 1555 c.1394C>G c.(1393-1395)GCC>GGC p.A465G NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 465 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) GGTATTGGCGGCTAGATAAAT 0.463 21 21 --- --- --- --- PASS NEIL3 55247 broad.mit.edu 37 4 178274865 178274865 + Missense_Mutation SNP C G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:178274865C>G uc003iut.2 + 8 1560 c.1443C>G c.(1441-1443)AAC>AAG p.N481K NEIL3_uc010irs.2_3'UTR NM_018248 NP_060718 Q8TAT5 NEIL3_HUMAN nei endonuclease VIII-like 3 481 base-excision repair|nucleotide-excision repair nucleus bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164) all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191) AAAGCTGCAACCCTGGATATT 0.279 BER_DNA_glycosylases 8 17 --- --- --- --- PASS ODZ3 55714 broad.mit.edu 37 4 183714330 183714330 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:183714330C>T uc003ivd.1 + 25 6542 c.6505C>T c.(6505-6507)CGT>TGT p.R2169C NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2169 Extracellular (Potential).|YD 19. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TAACAGTGCGCGTCTGACACC 0.473 24 30 --- --- --- --- PASS MTNR1A 4543 broad.mit.edu 37 4 187455106 187455106 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:187455106C>A uc003izd.1 - 2 808 c.790G>T c.(790-792)GAC>TAC p.D264Y NM_005958 NP_005949 P48039 MTR1A_HUMAN melatonin receptor 1A 264 Extracellular (Potential). circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity ovary(1)|skin(1)|breast(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) CTGGCGGGGTCAGAGGCCACG 0.512 22 35 --- --- --- --- PASS ADAMTS16 170690 broad.mit.edu 37 5 5146247 5146247 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:5146247T>C uc003jdl.2 + 3 318 c.180T>C c.(178-180)TAT>TAC p.Y60Y ADAMTS16_uc003jdk.1_Silent_p.Y60Y|ADAMTS16_uc003jdj.1_Silent_p.Y60Y NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 60 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 TTTCAGAATATGACCTGGTCT 0.473 16 38 --- --- --- --- PASS CTNND2 1501 broad.mit.edu 37 5 11346508 11346508 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:11346508A>G uc003jfa.1 - 9 1749 c.1604T>C c.(1603-1605)ATT>ACT p.I535T CTNND2_uc010itt.2_Missense_Mutation_p.I444T|CTNND2_uc011cmy.1_Missense_Mutation_p.I198T|CTNND2_uc011cmz.1_Missense_Mutation_p.I102T|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.I102T NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 535 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AATGCTATCAATGGACGGGGA 0.488 22 64 --- --- --- --- PASS CDH10 1008 broad.mit.edu 37 5 24492942 24492942 + Silent SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:24492942T>A uc003jgr.1 - 10 1940 c.1608A>T c.(1606-1608)ACA>ACT p.T536T CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 536 Cadherin 5.|Extracellular (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) TATCCTGTACTGTGAAGTTTG 0.348 HNSCC(23;0.051) 89 97 --- --- --- --- PASS CARD6 84674 broad.mit.edu 37 5 40852400 40852400 + Silent SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:40852400A>T uc003jmg.2 + 3 1041 c.966A>T c.(964-966)CCA>CCT p.P322P NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 322 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 CTGAGAGTCCAGGAGACTTAG 0.443 25 30 --- --- --- --- PASS GIN1 54826 broad.mit.edu 37 5 102433118 102433118 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:102433118T>C uc003koa.1 - 6 990 c.908A>G c.(907-909)CAT>CGT p.H303R GIN1_uc003kob.1_Missense_Mutation_p.H156R|GIN1_uc003koc.1_Intron NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 303 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) ATCCACTTCATGAAGACTATC 0.323 48 33 --- --- --- --- PASS TRPC7 57113 broad.mit.edu 37 5 135692755 135692755 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:135692755C>A uc003lbn.1 - 1 321 c.318G>T c.(316-318)GGG>GGT p.G106G TRPC7_uc010jef.1_Silent_p.G98G|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.G98G|TRPC7_uc010jei.1_Silent_p.G98G|TRPC7_uc010jej.1_5'UTR NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 107 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GCAGCGCGTCCCCCACCCGTG 0.662 18 13 --- --- --- --- PASS PCDHA3 56145 broad.mit.edu 37 5 140181071 140181071 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:140181071G>C uc003lhf.2 + 1 289 c.289G>C c.(289-291)GGG>CGG p.G97R PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA2_uc011czy.1_Intron|PCDHA3_uc011czz.1_Missense_Mutation_p.G97R NM_018906 NP_061729 Q9Y5H8 PCDA3_HUMAN protocadherin alpha 3 isoform 1 precursor 97 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(6)|skin(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACTGTGCGGGCGGAGCGC 0.557 4 116 --- --- --- --- PASS PCDHB6 56130 broad.mit.edu 37 5 140530850 140530850 + Missense_Mutation SNP G T T rs17844433 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:140530850G>T uc003lir.2 + 1 1012 c.1012G>T c.(1012-1014)GTG>TTG p.V338L PCDHB6_uc011dah.1_Missense_Mutation_p.V202L NM_018939 NP_061762 Q9Y5E3 PCDB6_HUMAN protocadherin beta 6 precursor 338 Cadherin 3.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGTCCTGGACGTGAATGACAA 0.463 18 19 --- --- --- --- PASS PDGFRB 5159 broad.mit.edu 37 5 149502632 149502632 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:149502632G>A uc003lro.2 - 15 2625 c.2156C>T c.(2155-2157)GCT>GTT p.A719V PDGFRB_uc010jhd.2_Missense_Mutation_p.A558V NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 719 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) AACGGGCAGAGCATTGCTGTA 0.632 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 31 26 --- --- --- --- PASS HAVCR2 84868 broad.mit.edu 37 5 156533809 156533809 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:156533809C>A uc003lwk.1 - 2 367 c.223G>T c.(223-225)GTG>TTG p.V75L HAVCR2_uc003lwl.2_Missense_Mutation_p.V75L NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 75 Ig-like V-type.|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) CAATAATTCACATCCCTTTCA 0.532 31 27 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178410074 178410074 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:178410074C>T uc003mjr.2 - 9 2452 c.2273G>A c.(2272-2274)AGC>AAC p.S758N GRM6_uc003mjq.2_Missense_Mutation_p.S161N NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 758 Helical; Name=5; (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) GAGCAGGAGGCTGTAGCCCAG 0.612 7 25 --- --- --- --- PASS GRM6 2916 broad.mit.edu 37 5 178410091 178410091 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr5:178410091G>A uc003mjr.2 - 9 2435 c.2256C>T c.(2254-2256)ATC>ATT p.I752I GRM6_uc003mjq.2_Silent_p.I155I NM_000843 NP_000834 O15303 GRM6_HUMAN glutamate receptor, metabotropic 6 precursor 752 Helical; Name=5; (Potential). detection of visible light|visual perception integral to plasma membrane lung(4)|ovary(2)|breast(1)|pancreas(1) 8 all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.245) CCAGGCAGCCGATGAGAGACA 0.632 15 21 --- --- --- --- PASS KIF13A 63971 broad.mit.edu 37 6 17764629 17764629 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:17764629G>A uc003ncg.3 - 39 5235 c.5130C>T c.(5128-5130)AGC>AGT p.S1710S KIF13A_uc003ncf.2_Silent_p.S1662S|KIF13A_uc003nch.3_Silent_p.S1675S|KIF13A_uc003nci.3_Silent_p.S1662S|KIF13A_uc003nce.1_Silent_p.S261S NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 1710 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TGGCTGGCTGGCTAATTTTGC 0.517 18 28 --- --- --- --- PASS ZNF311 282890 broad.mit.edu 37 6 28962782 28962782 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:28962782G>A uc003nlu.2 - 7 2510 c.1997C>T c.(1996-1998)GCC>GTC p.A666V ZNF311_uc011dlk.1_Missense_Mutation_p.A574V|ZNF311_uc003nlv.2_Missense_Mutation_p.A574V NM_001010877 NP_001010877 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 666 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding 0 TTATACTCAGGCACTGGTCAA 0.269 7 30 --- --- --- --- PASS ATF6B 1388 broad.mit.edu 37 6 32084310 32084310 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:32084310T>C uc003nzn.2 - 17 1862 c.1829A>G c.(1828-1830)AAC>AGC p.N610S TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Missense_Mutation_p.N183S|ATF6B_uc003nzo.2_Missense_Mutation_p.N607S NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 610 Lumenal (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GGAGGTCTTGTTGTGGCTGAT 0.607 11 12 --- --- --- --- PASS PI16 221476 broad.mit.edu 37 6 36922606 36922606 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:36922606C>A uc003ona.2 + 1 398 c.70C>A c.(70-72)CCC>ACC p.P24T PI16_uc003omz.1_Missense_Mutation_p.P24T|PI16_uc003onb.2_Missense_Mutation_p.P24T NM_153370 NP_699201 Q6UXB8 PI16_HUMAN protease inhibitor 16 precursor 24 extracellular region|integral to membrane peptidase inhibitor activity 0 CACCACAGGCCCCGTTGGAGC 0.507 16 32 --- --- --- --- PASS DNAH8 1769 broad.mit.edu 37 6 38754673 38754673 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:38754673C>T uc003ooe.1 + 16 2477 c.1877C>T c.(1876-1878)GCA>GTA p.A626V NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 CCAGAACAGGCAAAGAGATTG 0.328 10 39 --- --- --- --- PASS TTBK1 84630 broad.mit.edu 37 6 43230656 43230656 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:43230656G>A uc003ouq.1 + 13 1833 c.1554G>A c.(1552-1554)GTG>GTA p.V518V TTBK1_uc011dvg.1_Silent_p.V41V NM_032538 NP_115927 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 518 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 9 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) CAGCCTCTGTGGAGCAGGAGG 0.647 7 12 --- --- --- --- PASS ZNF318 24149 broad.mit.edu 37 6 43304927 43304927 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:43304927T>C uc003oux.2 - 10 6887 c.6809A>G c.(6808-6810)CAG>CGG p.Q2270R ZNF318_uc003ouw.2_Intron NM_014345 NP_055160 Q5VUA4 ZN318_HUMAN zinc finger protein 318 2270 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding ovary(3)|breast(2)|central_nervous_system(1)|skin(1) 7 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) TGTGTGGTCCTGGATGGCACC 0.458 13 37 --- --- --- --- PASS CRISP2 7180 broad.mit.edu 37 6 49676880 49676880 + Silent SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:49676880A>T uc003ozq.2 - 4 286 c.30T>A c.(28-30)GTT>GTA p.V10V CRISP2_uc003ozl.2_Silent_p.V10V|CRISP2_uc003ozn.2_Silent_p.V10V|CRISP2_uc003ozr.2_Silent_p.V10V|CRISP2_uc003ozo.2_Silent_p.V10V|CRISP2_uc003ozm.2_Silent_p.V10V|CRISP2_uc003ozp.2_Silent_p.V10V NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 10 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) GCAGCACAGTAACCAGAAACA 0.393 13 41 --- --- --- --- PASS KLHL31 401265 broad.mit.edu 37 6 53519311 53519311 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:53519311G>T uc003pcb.3 - 2 901 c.760C>A c.(760-762)CTT>ATT p.L254I NM_001003760 NP_001003760 Q9H511 KLH31_HUMAN kelch repeat and BTB (POZ) domain containing 1 254 BACK. regulation of transcription, DNA-dependent|transcription, DNA-dependent ovary(1) 1 Lung NSC(77;0.0158) TTGCTCAAAAGATCTGCAGCG 0.388 33 69 --- --- --- --- PASS KHDRBS2 202559 broad.mit.edu 37 6 62407151 62407151 + Nonsense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:62407151C>A uc003peg.2 - 8 1148 c.901G>T c.(901-903)GAA>TAA p.E301* NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TCATAGTATTCAGGCACACTG 0.393 8 18 --- --- --- --- PASS BAI3 577 broad.mit.edu 37 6 70064159 70064159 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:70064159G>T uc003pev.3 + 27 3942 c.3494G>T c.(3493-3495)TGT>TTT p.C1165F BAI3_uc010kak.2_Missense_Mutation_p.C1165F|BAI3_uc011dxx.1_Missense_Mutation_p.C371F NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1165 Cytoplasmic (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TTGAGAAACTGTCAGGATCCC 0.398 30 63 --- --- --- --- PASS GABRR2 2570 broad.mit.edu 37 6 89974321 89974321 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:89974321G>T uc003pnb.2 - 8 979 c.971C>A c.(970-972)ACG>AAG p.T324K GABRR2_uc011dzx.1_Missense_Mutation_p.T200K NM_002043 NP_002034 P28476 GBRR2_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 2 324 Helical; (Potential). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0158) CAGCACCGTCGTGATACCTGC 0.537 19 25 --- --- --- --- PASS MDN1 23195 broad.mit.edu 37 6 90472061 90472061 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:90472061T>A uc003pnn.1 - 16 2449 c.2333A>T c.(2332-2334)AAG>ATG p.K778M MDN1_uc003pno.1_Missense_Mutation_p.K196M NM_014611 NP_055426 Q9NU22 MDN1_HUMAN MDN1, midasin homolog 778 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding ovary(8)|skin(2) 10 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) TTTTCCATCCTTGTTAACAGC 0.478 41 51 --- --- --- --- PASS BACH2 60468 broad.mit.edu 37 6 90660143 90660143 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:90660143T>C uc011eab.1 - 7 2491 c.1682A>G c.(1681-1683)CAT>CGT p.H561R BACH2_uc003pnw.2_Missense_Mutation_p.H561R|BACH2_uc010kch.2_Missense_Mutation_p.H561R NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 561 nucleus protein dimerization activity|sequence-specific DNA binding ovary(3)|pancreas(1)|lung(1)|skin(1) 6 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) TGGTTCCTGATGTTCTGTGGC 0.572 33 31 --- --- --- --- PASS RFX6 222546 broad.mit.edu 37 6 117240437 117240437 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:117240437C>A uc003pxm.2 + 11 1223 c.1160C>A c.(1159-1161)ACA>AAA p.T387K NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN regulatory factor X, 6 387 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding ovary(1)|pancreas(1)|skin(1) 3 AAACGACAAACATCTTTCTTA 0.353 20 35 --- --- --- --- PASS IL20RA 53832 broad.mit.edu 37 6 137325764 137325764 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:137325764T>C uc003qhj.2 - 6 1291 c.858A>G c.(856-858)GCA>GCG p.A286A IL20RA_uc011edl.1_Silent_p.A237A|IL20RA_uc003qhk.2_Silent_p.A175A|IL20RA_uc003qhi.2_Silent_p.A18A NM_014432 NP_055247 Q9UHF4 I20RA_HUMAN interleukin 20 receptor, alpha precursor 286 Cytoplasmic (Potential). integral to membrane receptor activity ovary(2)|skin(2) 4 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459) TCACCAAATTTGCTGGGTGTT 0.423 45 95 --- --- --- --- PASS TIAM2 26230 broad.mit.edu 37 6 155451258 155451258 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:155451258G>C uc003qqb.2 + 6 2174 c.901G>C c.(901-903)GAA>CAA p.E301Q TIAM2_uc003qqe.2_Missense_Mutation_p.E301Q NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 301 apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) CTCCCTCCGGGAACTGTACAA 0.597 15 19 --- --- --- --- PASS FNDC1 84624 broad.mit.edu 37 6 159677649 159677649 + Silent SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:159677649A>G uc010kjv.2 + 18 5360 c.5160A>G c.(5158-5160)CTA>CTG p.L1720L NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 1720 Fibronectin type-III 5. extracellular region large_intestine(4)|ovary(3)|central_nervous_system(1) 8 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TTGAGAACCTAAAGCCCAACA 0.428 47 66 --- --- --- --- PASS CCR6 1235 broad.mit.edu 37 6 167550795 167550795 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:167550795G>A uc003qvl.2 + 13 3553 c.1077G>A c.(1075-1077)CAG>CAA p.Q359Q CCR6_uc010kkm.2_Silent_p.Q359Q|CCR6_uc003qvn.3_Silent_p.Q359Q|CCR6_uc003qvm.3_Silent_p.Q359Q NM_031409 NP_113597 P51684 CCR6_HUMAN chemokine (C-C motif) receptor 6 359 Cytoplasmic (Potential). cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response integral to plasma membrane C-C chemokine receptor activity ovary(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.0606) OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507) TTTCTCGGCAGACCAGTGAGA 0.448 16 38 --- --- --- --- PASS FAM120B 84498 broad.mit.edu 37 6 170626966 170626966 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr6:170626966T>A uc003qxp.2 + 2 596 c.488T>A c.(487-489)GTA>GAA p.V163E FAM120B_uc003qxo.1_Missense_Mutation_p.V163E|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 163 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) GATTATGAGGTAGCTTCCTAT 0.458 38 42 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11514078 11514078 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:11514078G>A uc003ssf.3 - 8 2387 c.2135C>T c.(2134-2136)TCA>TTA p.S712L NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 712 TSP type-1 7.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGACGATACTGAGGTGTCCTC 0.517 HNSCC(18;0.044) 14 34 --- --- --- --- PASS THSD7A 221981 broad.mit.edu 37 7 11632885 11632885 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:11632885C>T uc003ssf.3 - 3 1519 c.1267G>A c.(1267-1269)GCC>ACC p.A423T NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 423 Extracellular (Potential).|TSP type-1 4. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTCACGTGGCACAGGGGACA 0.418 HNSCC(18;0.044) 11 26 --- --- --- --- PASS EEPD1 80820 broad.mit.edu 37 7 36194244 36194244 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:36194244G>T uc003tfa.2 + 2 951 c.311G>T c.(310-312)GGC>GTC p.G104V NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN endonuclease/exonuclease/phosphatase family 104 DNA repair DNA binding 0 AGCAGCAAGGGCAGCTCAGCG 0.622 12 23 --- --- --- --- PASS CCL26 10344 broad.mit.edu 37 7 75401237 75401237 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:75401237G>C uc003udt.1 - 3 266 c.158C>G c.(157-159)ACC>AGC p.T53S NM_006072 NP_006063 Q9Y258 CCL26_HUMAN chemokine (C-C motif) ligand 26 precursor 53 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity 0 GCTGTTACTGGTGAATTCATA 0.547 17 39 --- --- --- --- PASS ADAM22 53616 broad.mit.edu 37 7 87564408 87564408 + Silent SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:87564408G>T uc003ujn.2 + 2 232 c.153G>T c.(151-153)GTG>GTT p.V51V ADAM22_uc003uji.1_Silent_p.V50V|ADAM22_uc003ujj.1_Silent_p.V51V|ADAM22_uc003ujk.1_Silent_p.V51V|ADAM22_uc003ujl.1_Silent_p.V51V|ADAM22_uc003ujm.2_Silent_p.V51V|ADAM22_uc003ujo.2_Silent_p.V51V|ADAM22_uc003ujp.1_Silent_p.V103V NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 51 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AGAGCATCGTGCCACTGCGCC 0.652 12 20 --- --- --- --- PASS ZNF804B 219578 broad.mit.edu 37 7 88847538 88847538 + Missense_Mutation SNP T G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:88847538T>G uc011khi.1 + 2 716 c.178T>G c.(178-180)TGT>GGT p.C60G NM_181646 NP_857597 A4D1E1 Z804B_HUMAN zinc finger protein 804B 60 C2H2-type. intracellular zinc ion binding ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1) 11 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) CTGTGAATTATGTGACAAGCA 0.363 HNSCC(36;0.09) 15 47 --- --- --- --- PASS TMEM168 64418 broad.mit.edu 37 7 112424133 112424133 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:112424133C>T uc003vgn.2 - 2 1140 c.748G>A c.(748-750)GAA>AAA p.E250K TMEM168_uc010lju.2_Missense_Mutation_p.E250K|TMEM168_uc011kmr.1_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN transmembrane protein 168 250 integral to membrane|transport vesicle ovary(1)|central_nervous_system(1) 2 TTCCATCTTTCAGTTACTGAA 0.353 46 108 --- --- --- --- PASS GRM8 2918 broad.mit.edu 37 7 126173740 126173740 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:126173740G>T uc003vlr.2 - 8 2007 c.1696C>A c.(1696-1698)CGC>AGC p.R566S GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.R566S|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 566 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CAGCCTGTGCGGTTCATGTTG 0.532 HNSCC(24;0.065) 17 38 --- --- --- --- PASS CHRM2 1129 broad.mit.edu 37 7 136700521 136700521 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr7:136700521G>A uc003vtf.1 + 4 1532 c.909G>A c.(907-909)CAG>CAA p.Q303Q CHRM2_uc003vtg.1_Silent_p.Q303Q|CHRM2_uc003vtj.1_Silent_p.Q303Q|CHRM2_uc003vtk.1_Silent_p.Q303Q|CHRM2_uc003vtl.1_Silent_p.Q303Q|CHRM2_uc003vtm.1_Silent_p.Q303Q|CHRM2_uc003vti.1_Silent_p.Q303Q|CHRM2_uc003vto.1_Silent_p.Q303Q|CHRM2_uc003vtn.1_Silent_p.Q303Q|uc003vtp.1_Intron NM_001006630 NP_001006631 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 303 Cytoplasmic (By similarity). activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding ovary(4)|central_nervous_system(1) 5 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium(DB01334)|Doxacurium chloride(DB01135)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) AAATAACCCAGGATGAAAACA 0.453 21 37 --- --- --- --- PASS SLC25A37 51312 broad.mit.edu 37 8 23423622 23423622 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr8:23423622C>T uc003xdo.2 + 2 365 c.212C>T c.(211-213)ACA>ATA p.T71I SLC25A37_uc003xdn.1_Missense_Mutation_p.T71I|SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 71 Solcar 1. ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) CGCTCCCAGACACGAATGCAG 0.458 8 7 --- --- --- --- PASS FAM110B 90362 broad.mit.edu 37 8 59058840 59058840 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr8:59058840C>A uc003xtj.1 + 5 931 c.51C>A c.(49-51)CCC>CCA p.P17P NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 17 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) CGGTCAGCCCCGCGGGCACCT 0.667 12 16 --- --- --- --- PASS REXO1L1 254958 broad.mit.edu 37 8 86573759 86573759 + Silent SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr8:86573759C>T uc011lfw.1 - 1 1510 c.1464G>A c.(1462-1464)CAG>CAA p.Q488Q NM_172239 NP_758439 Q8IX06 GOR_HUMAN exonuclease GOR 656 cytoplasm|nucleus exonuclease activity|nucleic acid binding 0 TCTGGGCGCGCTGTCGGACCT 0.667 5 45 --- --- --- --- PASS FAM83H 286077 broad.mit.edu 37 8 144808385 144808385 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr8:144808385T>C uc003yzk.2 - 5 3315 c.3246A>G c.(3244-3246)CCA>CCG p.P1082P FAM83H_uc010mfk.1_RNA NM_198488 NP_940890 Q6ZRV2 FA83H_HUMAN FAM83H 1082 biomineral tissue development lung(1)|central_nervous_system(1)|pancreas(1) 3 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) CGGACATATCTGGGGCCAGGA 0.711 15 11 --- --- --- --- PASS CDK20 23552 broad.mit.edu 37 9 90584108 90584108 + Splice_Site SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr9:90584108C>A uc004apr.2 - 7 1149 c.843_splice c.e7+1 p.K281_splice CDK20_uc004aps.2_Splice_Site_p.K260_splice|CDK20_uc004apt.2_Splice_Site_p.K273_splice|CDK20_uc004apu.2_Splice_Site_p.R219_splice NM_001039803 NP_001034892 Q8IZL9 CDK20_HUMAN cell cycle related kinase isoform 3 cell division|multicellular organismal development cilium|mitochondrion|nucleus ATP binding|cyclin-dependent protein kinase activity skin(1) 1 TCTCCCCCTACCTTGGAAGCT 0.597 47 23 --- --- --- --- PASS PTPN3 5774 broad.mit.edu 37 9 112199224 112199224 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr9:112199224G>T uc004bed.2 - 9 726 c.614C>A c.(613-615)TCC>TAC p.S205Y PTPN3_uc004beb.2_Missense_Mutation_p.S74Y|PTPN3_uc004bec.2_Missense_Mutation_p.S74Y|PTPN3_uc010mtu.2_RNA|PTPN3_uc011lwg.1_Missense_Mutation_p.S205Y|PTPN3_uc011lwh.1_Missense_Mutation_p.S96Y NM_002829 NP_002820 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 205 FERM. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity ovary(3) 3 GATATAGCAGGATTCTGCTTC 0.393 34 14 --- --- --- --- PASS NOTCH1 4851 broad.mit.edu 37 9 139410454 139410454 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr9:139410454A>T uc004chz.2 - 10 1648 c.1648T>A c.(1648-1650)TAC>AAC p.Y550N NOTCH1_uc004cia.1_5'Flank NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 550 Extracellular (Potential).|EGF-like 14; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) ACACAGGTGTAAGTGTTGGGT 0.637 T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 16 7 --- --- --- --- PASS FRMD4A 55691 broad.mit.edu 37 10 13736020 13736020 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:13736020C>T uc001ims.2 - 15 1347 c.995G>A c.(994-996)CGC>CAC p.R332H FRMD4A_uc009xjf.1_Missense_Mutation_p.R332H|FRMD4A_uc001imt.1_Missense_Mutation_p.R365H|FRMD4A_uc001imu.1_Missense_Mutation_p.R348H NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN FERM domain containing 4A 332 cytoplasm|cytoskeleton binding ovary(1)|skin(1)|pancreas(1) 3 ACTCAGGCTGCGTGCTGCATG 0.587 3 50 --- --- --- --- PASS CCDC7 221016 broad.mit.edu 37 10 32856664 32856664 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:32856664G>A uc001iwj.2 + 16 1834 c.1264G>A c.(1264-1266)GGG>AGG p.G422R CCDC7_uc001iwk.2_Missense_Mutation_p.G422R|CCDC7_uc009xlv.2_RNA|C10orf68_uc001iwl.1_5'UTR|C10orf68_uc001iwm.1_5'UTR|C10orf68_uc001iwn.3_5'UTR NM_145023 NP_659460 Q96M83 CCDC7_HUMAN coiled-coil domain containing 7 422 0 Breast(68;0.000207)|Prostate(175;0.0107) TAAAAGTGAGGGGAAAACTGA 0.308 13 19 --- --- --- --- PASS ZNF25 219749 broad.mit.edu 37 10 38241972 38241972 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:38241972C>A uc001ize.1 - 6 559 c.454G>T c.(454-456)GGG>TGG p.G152W ZNF25_uc001izf.1_Missense_Mutation_p.G116W NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 152 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) AAAGATTTCCCACATTTATCA 0.363 41 98 --- --- --- --- PASS PGBD3 267004 broad.mit.edu 37 10 50724411 50724411 + Silent SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:50724411T>A uc001jht.2 - 2 1005 c.750A>T c.(748-750)ATA>ATT p.I250I ERCC6_uc001jhs.3_Intron|PGBD3_uc009xoe.2_Silent_p.I718I|PGBD3_uc001jhu.2_Silent_p.I718I NM_170753 NP_736609 Q8N328 PGBD3_HUMAN hypothetical protein LOC267004 250 pancreas(1)|breast(1)|skin(1) 3 TAAGTTTGCTTATGAGAGGTC 0.368 17 33 --- --- --- --- PASS ANK3 288 broad.mit.edu 37 10 61836114 61836114 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:61836114C>A uc001jky.2 - 37 4717 c.4525G>T c.(4525-4527)GCT>TCT p.A1509S ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron|ANK3_uc009xpc.1_RNA NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 1509 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 GTAATCGGAGCTGTTGTCCAG 0.468 8 31 --- --- --- --- PASS CTNNA3 29119 broad.mit.edu 37 10 67680245 67680245 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:67680245G>T uc009xpn.1 - 18 2654 c.2531C>A c.(2530-2532)CCA>CAA p.P844Q CTNNA3_uc001jmw.2_Missense_Mutation_p.P844Q NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 844 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CATCACAACTGGGTGCCGGGG 0.473 33 51 --- --- --- --- PASS PPA1 5464 broad.mit.edu 37 10 71974268 71974268 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:71974268T>C uc001jqv.1 - 5 479 c.372A>G c.(370-372)GAA>GAG p.E124E NM_021129 NP_066952 Q15181 IPYR_HUMAN pyrophosphatase 1 124 diphosphate metabolic process|tRNA aminoacylation for protein translation cytosol inorganic diphosphatase activity|magnesium ion binding breast(1) 1 TGCTTCCAATTTCACACACAT 0.318 13 29 --- --- --- --- PASS SFTPA2 729238 broad.mit.edu 37 10 81319118 81319118 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:81319118A>T uc001kal.3 - 3 219 c.122T>A c.(121-123)CTG>CAG p.L41Q SFTPA2_uc001kan.3_Missense_Mutation_p.L41Q|SFTPA2_uc001kam.2_RNA NM_006926 NP_008857 Q8IWL1 SFPA2_HUMAN RecName: Full=Pulmonary surfactant-associated protein A2; Short=SP-A2; Short=SP-A; Short=PSP-A; Short=PSPA; AltName: Full=Alveolar proteinosis protein; AltName: Full=35 kDa pulmonary surfactant-associated protein; Flags: Precursor; 41 Collagen-like. cell junction assembly|respiratory gaseous exchange collagen|extracellular space sugar binding 0 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) CCTGCCTGGCAGGCCGTGGGA 0.617 Pulmonary_Fibrosis_Idiopathic 17 19 --- --- --- --- PASS GRID1 2894 broad.mit.edu 37 10 87362103 87362103 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:87362103G>T uc001kdl.1 - 16 3058 c.2957C>A c.(2956-2958)CCC>CAC p.P986H GRID1_uc009xsu.1_RNA|GRID1_uc010qmf.1_Missense_Mutation_p.P557H|uc001kdk.1_Intron NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 986 Cytoplasmic (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) GAAGGACATGGGGATGGGGGT 0.682 Multiple Myeloma(13;0.14) 13 12 --- --- --- --- PASS NOLC1 9221 broad.mit.edu 37 10 103919769 103919769 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:103919769A>T uc001kuo.2 + 8 1211 c.976A>T c.(976-978)AGT>TGT p.S326C NOLC1_uc001kup.2_Missense_Mutation_p.S336C|NOLC1_uc001kuq.2_Missense_Mutation_p.S327C|NOLC1_uc009xxb.1_Missense_Mutation_p.S45C|NOLC1_uc001kur.2_Missense_Mutation_p.S45C NM_004741 NP_004732 Q14978 NOLC1_HUMAN nucleolar and coiled-body phosphoprotein 1 326 11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.|Acidic serine cluster 6. mitosis|rRNA processing cytoplasm|nucleolus ATP binding|GTP binding|protein binding ovary(1) 1 Colorectal(252;0.122) Epithelial(162;5.19e-08)|all cancers(201;9.43e-07) TGAAGACAGCAGTGATGAGTC 0.592 5 0 --- --- --- --- PASS ACTR1A 10121 broad.mit.edu 37 10 104242820 104242820 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr10:104242820G>T uc001kvv.2 - 7 806 c.698C>A c.(697-699)ACG>AAG p.T233K ACTR1A_uc010qqn.1_Missense_Mutation_p.T159K|ACTR1A_uc010qqo.1_Missense_Mutation_p.T186K NM_005736 NP_005727 P61163 ACTZ_HUMAN ARP1 actin-related protein 1 homolog A, 233 G2/M transition of mitotic cell cycle|vesicle-mediated transport centrosome|cytosol|dynactin complex ATP binding central_nervous_system(1) 1 Colorectal(252;0.122) Epithelial(162;5.34e-09)|all cancers(201;1.43e-07)|BRCA - Breast invasive adenocarcinoma(275;0.222) TGTCTCTAGCGTCTCATCCTT 0.517 37 46 --- --- --- --- PASS MUC5B 727897 broad.mit.edu 37 11 1254275 1254275 + Missense_Mutation SNP C G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:1254275C>G uc009ycr.1 + 34 4201 c.4075C>G c.(4075-4077)CGC>GGC p.R1359G MUC5B_uc009yct.1_Missense_Mutation_p.R700G|MUC5B_uc001ltb.2_Missense_Mutation_p.R703G|MUC5B_uc001lta.2_Missense_Mutation_p.R368G NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 700 TIL 2. R -> P (in Ref. 3; CAA06167). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAAGTCCCAGCGCTACGCCTA 0.667 5 7 --- --- --- --- PASS OR56A4 120793 broad.mit.edu 37 11 6023346 6023346 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:6023346T>C uc010qzv.1 - 1 1033 c.1033A>G c.(1033-1035)ATT>GTT p.I345V NM_001005179 NP_001005179 Q8NGH8 O56A4_HUMAN olfactory receptor, family 56, subfamily A, 293 Helical; Name=7; (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) CCATAAACAATGGGGTTCAGA 0.473 13 37 --- --- --- --- PASS CCKBR 887 broad.mit.edu 37 11 6281297 6281297 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:6281297G>T uc001mcp.2 + 1 332 c.139G>T c.(139-141)GCC>TCC p.A47S CCKBR_uc001mcq.2_5'UTR|CCKBR_uc001mcr.2_Missense_Mutation_p.A47S|CCKBR_uc001mcs.2_Missense_Mutation_p.A47S NM_176875 NP_795344 P32239 GASR_HUMAN cholecystokinin B receptor 47 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding lung(5)|ovary(2)|breast(1) 8 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) CATTCGCGGAGCCGGGACACG 0.672 4 15 --- --- --- --- PASS DCHS1 8642 broad.mit.edu 37 11 6661831 6661831 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:6661831C>A uc001mem.1 - 2 1424 c.1014G>T c.(1012-1014)GGG>GGT p.G338G NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 338 Extracellular (Potential).|Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGGGTGAGCCCCACCATCTC 0.587 16 56 --- --- --- --- PASS PDE3B 5140 broad.mit.edu 37 11 14889073 14889073 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:14889073G>A uc001mln.2 + 15 3261 c.2908G>A c.(2908-2910)GGT>AGT p.G970S PDE3B_uc010rcr.1_Missense_Mutation_p.G919S NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 970 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 AGCAAATCTTGGTCTGCCCAT 0.393 23 36 --- --- --- --- PASS HPS5 11234 broad.mit.edu 37 11 18313248 18313248 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:18313248G>A uc001mod.1 - 16 2459 c.2181C>T c.(2179-2181)TGC>TGT p.C727C HPS5_uc001moe.1_Silent_p.C613C|HPS5_uc001mof.1_Silent_p.C613C NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 727 cytosol ovary(1)|pancreas(1)|skin(1) 3 TTGCAATGGCGCATGGAGAAC 0.408 Hermansky-Pudlak_syndrome 4 91 --- --- --- --- PASS C11orf46 120534 broad.mit.edu 37 11 30358242 30358242 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:30358242C>A uc001mso.1 + 4 847 c.683C>A c.(682-684)TCT>TAT p.S228Y C11orf46_uc001msp.2_5'Flank NM_152316 NP_689529 Q8N8R7 CK046_HUMAN hypothetical protein LOC120534 228 Cys-rich. 0 GCCTGTGGTTCTACCAAGTGT 0.448 45 103 --- --- --- --- PASS PRR5L 79899 broad.mit.edu 37 11 36440842 36440842 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:36440842G>A uc001mwo.3 + 4 672 c.283G>A c.(283-285)GAC>AAC p.D95N PRR5L_uc001mwp.2_Missense_Mutation_p.D95N|PRR5L_uc009ykk.2_Missense_Mutation_p.D14N|PRR5L_uc010rfc.1_Missense_Mutation_p.D95N NM_001160167 NP_001153639 Q6MZQ0 PRR5L_HUMAN protor-2 isoform a 95 ovary(1) 1 ATTCATTACAGACTATTTTCA 0.483 31 46 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56019884 56019884 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:56019884T>A uc010rjd.1 + 1 209 c.209T>A c.(208-210)ATA>AAA p.I70K NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 70 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TTTACCTTGATAGGCAATTTA 0.373 21 51 --- --- --- --- PASS OR5T3 390154 broad.mit.edu 37 11 56020603 56020603 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:56020603A>G uc010rjd.1 + 1 928 c.928A>G c.(928-930)ATT>GTT p.I310V NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 310 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) ATTTTACACAATTGTGATTCC 0.343 21 55 --- --- --- --- PASS LRRC55 219527 broad.mit.edu 37 11 56954920 56954920 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:56954920G>T uc001njl.1 + 2 1139 c.992G>T c.(991-993)CGC>CTC p.R331L LRRC55_uc001njm.1_5'Flank NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN leucine rich repeat containing 55 301 integral to membrane 0 TGCTGCCACCGCTGGAGCAAG 0.587 6 15 --- --- --- --- PASS GAL3ST3 89792 broad.mit.edu 37 11 65810520 65810520 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:65810520G>A uc001ogv.2 - 2 914 c.754C>T c.(754-756)CGG>TGG p.R252W GAL3ST3_uc001ogw.2_Missense_Mutation_p.R252W NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 252 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 AGTAGGCGCCGCAGCAGCACT 0.622 17 16 --- --- --- --- PASS SF3B2 10992 broad.mit.edu 37 11 65820501 65820501 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:65820501G>T uc001ogy.1 + 3 224 c.184G>T c.(184-186)GGC>TGC p.G62C SF3B2_uc001ogx.1_Missense_Mutation_p.G62C NM_006842 NP_006833 Q13435 SF3B2_HUMAN splicing factor 3B subunit 2 62 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding ovary(2)|breast(1) 3 TTTGCAGACTGGCATCGTGCT 0.433 36 97 --- --- --- --- PASS MYO7A 4647 broad.mit.edu 37 11 76893183 76893183 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:76893183G>A uc001oyb.2 + 24 3363 c.3091G>A c.(3091-3093)GAC>AAC p.D1031N MYO7A_uc010rsl.1_Missense_Mutation_p.D1031N|MYO7A_uc010rsm.1_Missense_Mutation_p.D1020N|MYO7A_uc001oyc.2_Missense_Mutation_p.D1031N|MYO7A_uc001oyd.2_Missense_Mutation_p.D371N|MYO7A_uc009yus.1_RNA|MYO7A_uc009yut.1_Missense_Mutation_p.D242N NM_000260 NP_000251 Q13402 MYO7A_HUMAN myosin VIIA isoform 1 1031 MyTH4 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|breast(1) 4 CTACCATGACGACGAGGGTGA 0.607 11 16 --- --- --- --- PASS GUCY1A2 2977 broad.mit.edu 37 11 106681023 106681023 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:106681023T>A uc001pjg.1 - 5 1778 c.1388A>T c.(1387-1389)GAT>GTT p.D463V GUCY1A2_uc010rvo.1_Missense_Mutation_p.D484V|GUCY1A2_uc009yxn.1_Missense_Mutation_p.D463V NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 463 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CTTCAACCCATCTTGGGCCTT 0.453 24 46 --- --- --- --- PASS DSCAML1 57453 broad.mit.edu 37 11 117301686 117301686 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:117301686C>A uc001prh.1 - 32 5620 c.5618G>T c.(5617-5619)CGG>CTG p.R1873L NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1813 Cytoplasmic (Potential). axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CTCATAGGCCCGGGCCAGCTC 0.567 41 60 --- --- --- --- PASS ARHGEF12 23365 broad.mit.edu 37 11 120317760 120317760 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:120317760G>A uc001pxl.1 + 18 1562 c.1555G>A c.(1555-1557)GCA>ACA p.A519T ARHGEF12_uc009zat.2_Missense_Mutation_p.A500T|ARHGEF12_uc010rzn.1_Missense_Mutation_p.A416T|ARHGEF12_uc009zau.1_Missense_Mutation_p.A416T NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 519 RGSL. apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GCGGACATGTGCAGAACAGAT 0.438 T MLL AML 19 55 --- --- --- --- PASS SORL1 6653 broad.mit.edu 37 11 121485765 121485765 + Splice_Site SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:121485765G>T uc001pxx.2 + 41 5684 c.5604_splice c.e41+1 p.V1868_splice SORL1_uc010rzp.1_Splice_Site_p.V714_splice|SORL1_uc010rzq.1_Splice_Site_p.V483_splice NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) CCGGAATGTGGTGAGTCAGCC 0.542 3 23 --- --- --- --- PASS ASAM 79827 broad.mit.edu 37 11 122945410 122945410 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:122945410C>T uc001pyt.2 - 6 1180 c.821G>A c.(820-822)CGA>CAA p.R274Q NM_024769 NP_079045 Q9H6B4 CLMP_HUMAN adipocyte-specific adhesion molecule precursor 274 Cytoplasmic (Potential). integral to membrane|tight junction 0 Breast(109;0.0025)|Lung NSC(97;0.0179)|all_lung(97;0.0182)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.73e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446) GGAGGTTTACCGAATTTCATT 0.448 59 163 --- --- --- --- PASS OR10G8 219869 broad.mit.edu 37 11 123901029 123901029 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr11:123901029C>A uc001pzp.1 + 1 700 c.700C>A c.(700-702)CAC>AAC p.H234N NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 234 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) AGAGGGGAAGCACAGAGCCTT 0.547 18 53 --- --- --- --- PASS ITFG2 55846 broad.mit.edu 37 12 2927299 2927299 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:2927299G>T uc001qlb.1 + 4 326 c.262G>T c.(262-264)GGC>TGC p.G88C ITFG2_uc001qla.1_Missense_Mutation_p.G88C|ITFG2_uc010seb.1_Intron|ITFG2_uc010sec.1_RNA NM_018463 NP_060933 Q969R8 ITFG2_HUMAN integrin alpha FG-GAP repeat containing 2 88 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) GAGTGCTGAAGGCTGGTTTCA 0.507 29 49 --- --- --- --- PASS CLSTN3 9746 broad.mit.edu 37 12 7295832 7295832 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:7295832A>G uc001qsr.2 + 12 2050 c.1772A>G c.(1771-1773)CAG>CGG p.Q591R CLSTN3_uc001qss.2_Missense_Mutation_p.Q603R NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN calsyntenin 3 precursor 591 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding large_intestine(1) 1 CATGCCCTGCAGCATGTGGCT 0.617 39 72 --- --- --- --- PASS ABCC9 10060 broad.mit.edu 37 12 22065959 22065959 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:22065959C>A uc001rfi.1 - 6 878 c.858G>T c.(856-858)TGG>TGT p.W286C ABCC9_uc001rfh.2_Missense_Mutation_p.W286C|ABCC9_uc001rfj.1_Missense_Mutation_p.W286C NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 286 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ACATTGCAAGCCATATAGATG 0.373 17 40 --- --- --- --- PASS MON2 23041 broad.mit.edu 37 12 62954653 62954653 + Silent SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:62954653A>T uc001sre.2 + 26 4183 c.3792A>T c.(3790-3792)CTA>CTT p.L1264L MON2_uc009zqj.2_Silent_p.L1264L|MON2_uc010ssl.1_Silent_p.L1192L|MON2_uc010ssm.1_Silent_p.L1241L|MON2_uc010ssn.1_Silent_p.L1264L|MON2_uc001srf.2_Silent_p.L1027L|MON2_uc001srg.2_Silent_p.L139L NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 1265 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTGATAAACTAACTTTTATTC 0.368 31 46 --- --- --- --- PASS TSPAN8 7103 broad.mit.edu 37 12 71519129 71519129 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:71519129C>A uc009zrt.1 - 8 861 c.699G>T c.(697-699)CAG>CAT p.Q233H TSPAN8_uc001swk.1_Missense_Mutation_p.Q233H|TSPAN8_uc001swj.1_Missense_Mutation_p.Q233H NM_004616 NP_004607 P19075 TSN8_HUMAN transmembrane 4 superfamily member 3 233 Cytoplasmic (Potential). protein glycosylation integral to membrane|lysosome signal transducer activity skin(2)|lung(1)|central_nervous_system(1) 4 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) TGTTCCCGATCTGGCAATACA 0.353 24 36 --- --- --- --- PASS NAV3 89795 broad.mit.edu 37 12 78400211 78400211 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:78400211G>T uc001syp.2 + 8 1066 c.893G>T c.(892-894)GGA>GTA p.G298V NAV3_uc001syo.2_Missense_Mutation_p.G298V NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 298 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 TCCTCCAAAGGACCTCAATCG 0.438 HNSCC(70;0.22) 14 33 --- --- --- --- PASS MYF5 4617 broad.mit.edu 37 12 81110943 81110943 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:81110943C>A uc001szg.2 + 1 236 c.101C>A c.(100-102)CCG>CAG p.P34Q NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 34 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 GAGTTTGTGCCGCGAGTGGCT 0.617 12 15 --- --- --- --- PASS C12orf48 55010 broad.mit.edu 37 12 102569288 102569288 + Silent SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr12:102569288G>T uc001tjf.2 + 7 961 c.849G>T c.(847-849)GTG>GTT p.V283V C12orf48_uc001tjg.2_Silent_p.V202V|C12orf48_uc010swa.1_Silent_p.V360V|C12orf48_uc001tjh.2_Silent_p.V202V|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_5'UTR|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 283 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 TACTGTCAGTGATAAAGATGC 0.333 27 41 --- --- --- --- PASS SKA3 221150 broad.mit.edu 37 13 21742230 21742230 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr13:21742230C>T uc001unt.2 - 4 734 c.640G>A c.(640-642)GAG>AAG p.E214K SKA3_uc001unv.2_Missense_Mutation_p.E132K|SKA3_uc001unu.2_Missense_Mutation_p.E214K NM_145061 NP_659498 Q8IX90 SKA3_HUMAN SKA3 214 cell division|chromosome segregation|mitosis|regulation of microtubule polymerization or depolymerization condensed chromosome outer kinetochore|cytoplasm|spindle microtubule protein binding 0 GTTACACACTCAAAATCATCC 0.328 43 41 --- --- --- --- PASS PDS5B 23047 broad.mit.edu 37 13 33233343 33233343 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr13:33233343A>G uc010abf.2 + 6 708 c.550A>G c.(550-552)ATT>GTT p.I184V PDS5B_uc001uuo.2_Missense_Mutation_p.I184V|PDS5B_uc010abg.2_RNA NM_015032 NP_055847 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog 184 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding ovary(2)|lung(1)|pancreas(1) 4 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TATGAGCTCTATTATTTGTGA 0.378 40 36 --- --- --- --- PASS MAB21L1 4081 broad.mit.edu 37 13 36049443 36049443 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr13:36049443A>G uc001uvc.2 - 1 1390 c.833T>C c.(832-834)GTT>GCT p.V278A 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 1 278 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) CTCGTAGGAAACCAGAGTCTT 0.527 22 17 --- --- --- --- PASS MYH6 4624 broad.mit.edu 37 14 23862179 23862179 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:23862179G>C uc001wjv.2 - 24 3260 c.3193C>G c.(3193-3195)CAG>GAG p.Q1065E NM_002471 NP_002462 P13533 MYH6_HUMAN myosin heavy chain 6 1065 Potential. Q -> H (in CMH14). adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle pancreas(2)|ovary(1)|skin(1) 4 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ATGCTCTCCTGGGTCAGCTTC 0.542 17 60 --- --- --- --- PASS CBLN3 643866 broad.mit.edu 37 14 24897140 24897140 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:24897140G>C uc001wpg.3 - 3 944 c.473C>G c.(472-474)CCT>CGT p.P158R KHNYN_uc010tpc.1_5'Flank|KHNYN_uc001wph.3_5'Flank|KHNYN_uc010alw.2_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN cerebellin 3 precursor 158 Necessary for interaction with CBLN3, and homotrimerization (By similarity).|C1q. cell junction|extracellular region|synapse central_nervous_system(1) 1 GBM - Glioblastoma multiforme(265;0.00159) GGTCACGTCAGGATCATTGGC 0.632 15 21 --- --- --- --- PASS AKAP6 9472 broad.mit.edu 37 14 33015113 33015113 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:33015113G>T uc001wrq.2 + 4 1424 c.1254G>T c.(1252-1254)AAG>AAT p.K418N AKAP6_uc010aml.2_Missense_Mutation_p.K415N NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 418 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTGATCTAAAGCCTGAGATGA 0.453 64 103 --- --- --- --- PASS LRFN5 145581 broad.mit.edu 37 14 42357212 42357212 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:42357212A>G uc001wvm.2 + 3 2582 c.1384A>G c.(1384-1386)AGA>GGA p.R462G LRFN5_uc010ana.2_Missense_Mutation_p.R462G NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 462 Extracellular (Potential).|Fibronectin type-III. 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) CCTTGTTTACAGGTAAGAAAA 0.318 HNSCC(30;0.082) 6 25 --- --- --- --- PASS FSCB 84075 broad.mit.edu 37 14 44975317 44975317 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:44975317G>T uc001wvn.2 - 1 1183 c.874C>A c.(874-876)CAA>AAA p.Q292K NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 292 cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) GGCTGTACTTGGACATGGGTC 0.517 19 46 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52493960 52493960 + Missense_Mutation SNP G T T rs147631741 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:52493960G>T uc001wzo.2 - 12 2867 c.2633C>A c.(2632-2634)GCC>GAC p.A878D NID2_uc010tqs.1_Intron|NID2_uc010tqt.1_Missense_Mutation_p.A878D|NID2_uc001wzp.2_Missense_Mutation_p.A878D NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 878 EGF-like 4. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) AGGCAGGCAGGCACAGCTGAA 0.597 5 14 --- --- --- --- PASS NID2 22795 broad.mit.edu 37 14 52534714 52534714 + Silent SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:52534714C>T uc001wzo.2 - 2 630 c.396G>A c.(394-396)GTG>GTA p.V132V NID2_uc010tqs.1_Silent_p.V132V|NID2_uc010tqt.1_Silent_p.V132V|NID2_uc001wzp.2_Silent_p.V132V NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 132 NIDO. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CCAGGCCCAGCACTGCGGGGG 0.697 24 34 --- --- --- --- PASS GPHN 10243 broad.mit.edu 37 14 67588971 67588971 + Splice_Site SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:67588971A>G uc001xiy.2 + 16 2649 c.1528_splice c.e16-2 p.L510_splice GPHN_uc001xix.2_Splice_Site_p.L543_splice|GPHN_uc010tss.1_Splice_Site_p.L556_splice|GPHN_uc010tst.1_Splice_Site_p.L479_splice|GPHN_uc010tsu.1_Splice_Site_p.L433_splice NM_001024218 NP_001019389 Q9NQX3 GEPH_HUMAN gephyrin isoform 2 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cell junction|cytoplasm|cytoskeleton|postsynaptic membrane ATP binding|metal ion binding|nucleotidyltransferase activity ovary(2) 2 all_cancers(7;0.0476)|all_hematologic(31;0.0116) Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184) TTGGCTTTGTAGCTGCTAAAT 0.373 T MLL AL 3 55 --- --- --- --- PASS C14orf179 112752 broad.mit.edu 37 14 76549569 76549569 + Splice_Site SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:76549569G>A uc010asm.1 + 8 479 c.445_splice c.e8-1 p.D149_splice C14orf179_uc001xsg.2_Splice_Site_p.D154_splice|C14orf179_uc010tve.1_Splice_Site NM_001102564 NP_001096034 Q96FT9 IFT43_HUMAN hypothetical protein LOC112752 isoform 2 cilium morphogenesis|intraflagellar retrograde transport 0 BRCA - Breast invasive adenocarcinoma(234;0.0199) TGCATTCACAGGATGGGGAGA 0.532 11 16 --- --- --- --- PASS TRIP11 9321 broad.mit.edu 37 14 92471524 92471524 + Silent SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:92471524A>T uc001xzy.2 - 11 3584 c.2796T>A c.(2794-2796)TCT>TCA p.S932S TRIP11_uc010auf.1_Silent_p.S668S NM_004239 NP_004230 Q15643 TRIPB_HUMAN thyroid hormone receptor interactor 11 932 Potential. transcription from RNA polymerase II promoter cytoskeleton|Golgi apparatus|membrane|nucleus protein binding|transcription coactivator activity ovary(6)|skin(2)|kidney(2)|central_nervous_system(1)|lung(1)|breast(1) 13 COAD - Colon adenocarcinoma(157;0.223) GCTCTTGTAAAGACTGAAGTA 0.373 T PDGFRB AML 40 81 --- --- --- --- PASS ADAM6 8755 broad.mit.edu 37 14 107083459 107083459 + RNA SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr14:107083459T>A uc010tyt.1 - 113 c.5334A>T Parts of antibodies, mostly variable regions. 0 TAGTAACTACTGATGGAGCCA 0.597 17 29 --- --- --- --- PASS OTUD7A 161725 broad.mit.edu 37 15 31776570 31776570 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr15:31776570C>A uc001zfq.2 - 11 1801 c.1708G>T c.(1708-1710)GGC>TGC p.G570C OTUD7A_uc001zfr.2_Missense_Mutation_p.G577C NM_130901 NP_570971 Q8TE49 OTU7A_HUMAN OTU domain containing 7A 570 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding pancreas(1)|skin(1) 2 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) TCCTTGCTGCCCTTGCGCGAC 0.692 6 18 --- --- --- --- PASS RYR3 6263 broad.mit.edu 37 15 33941357 33941357 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr15:33941357T>A uc001zhi.2 + 31 4133 c.4063T>A c.(4063-4065)TAC>AAC p.Y1355N RYR3_uc010bar.2_Missense_Mutation_p.Y1355N NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1355 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTATCACTTGTACAGTGAAAA 0.532 27 49 --- --- --- --- PASS COPS2 9318 broad.mit.edu 37 15 49425958 49425958 + Silent SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr15:49425958T>A uc001zxf.2 - 9 1024 c.945A>T c.(943-945)GTA>GTT p.V315V COPS2_uc001zxh.2_Silent_p.V322V|COPS2_uc010ufa.1_Silent_p.V251V NM_004236 NP_004227 P61201 CSN2_HUMAN COP9 constitutive photomorphogenic homolog 315 PCI. cullin deneddylation|transcription from RNA polymerase II promoter cytoplasm|signalosome protein binding|signal transducer activity lung(1) 1 all_lung(180;0.0428) all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05) AATCTTACCTTACTAAATTCG 0.279 8 17 --- --- --- --- PASS UNC13C 440279 broad.mit.edu 37 15 54586235 54586235 + Nonsense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr15:54586235G>T uc002ack.2 + 9 3961 c.3961G>T c.(3961-3963)GGA>TGA p.G1321* UNC13C_uc002acl.2_Nonsense_Mutation_p.G151* NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 1321 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GACCTTGAGTGGAGAAATGGA 0.353 31 60 --- --- --- --- PASS CCNB2 9133 broad.mit.edu 37 15 59408904 59408904 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr15:59408904C>T uc002afz.2 + 6 761 c.613C>T c.(613-615)CGG>TGG p.R205W CCNB2_uc010bge.2_Missense_Mutation_p.R124W NM_004701 NP_004692 O95067 CCNB2_HUMAN cyclin B2 205 cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle centrosome|cytosol|nucleus protein kinase binding 0 GCCAGTTTCCCGGAAGAAGCT 0.408 9 59 --- --- --- --- PASS MVP 9961 broad.mit.edu 37 16 29845346 29845346 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:29845346G>A uc002dui.2 + 5 620 c.536G>A c.(535-537)CGC>CAC p.R179H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|MVP_uc010bzh.1_RNA|MVP_uc010vdz.1_Intron|MVP_uc002duj.2_Missense_Mutation_p.R179H|MVP_uc010vea.1_5'UTR NM_005115 NP_005106 Q14764 MVP_HUMAN major vault protein 179 MVP 4. mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 CTCAGGGCCCGCAAGGAGTGC 0.662 12 13 --- --- --- --- PASS ZNF48 197407 broad.mit.edu 37 16 30409275 30409275 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:30409275G>A uc002dya.1 + 2 763 c.704G>A c.(703-705)CGC>CAC p.R235H ZNF48_uc002dxz.1_Missense_Mutation_p.R112H NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 235 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGTTCCGCCCGCATCAAGCAC 0.657 3 26 --- --- --- --- PASS FBXL19 54620 broad.mit.edu 37 16 30939884 30939884 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:30939884A>T uc002eab.2 + 6 942 c.784A>T c.(784-786)AGG>TGG p.R262W FBXL19_uc002dzz.1_5'UTR|FBXL19_uc002eaa.1_Intron NM_001099784 NP_001093254 Q6PCT2 FXL19_HUMAN F-box and leucine-rich repeat protein 19 262 Pro-rich. DNA binding|zinc ion binding ovary(2)|lung(1)|breast(1) 4 GCTGCCCCCCAGGGTTCTGAA 0.677 4 8 --- --- --- --- PASS PYDC1 260434 broad.mit.edu 37 16 31228292 31228292 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:31228292G>A uc002ebo.2 - 1 107 c.58C>T c.(58-60)CTC>TTC p.L20F TRIM72_uc002ebn.1_Intron NM_152901 NP_690865 Q8WXC3 PYDC1_HUMAN pyrin domain containing 1 20 DAPIN. innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway IkappaB kinase complex|nucleus cysteine-type endopeptidase activity|protein binding 0 AACTTCTTGAGCTCCTCCGGT 0.652 14 19 --- --- --- --- PASS FTO 79068 broad.mit.edu 37 16 53907755 53907755 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:53907755G>T uc002ehr.2 + 5 1175 c.953G>T c.(952-954)AGT>ATT p.S318I FTO_uc010vha.1_Missense_Mutation_p.S22I NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 318 Alpha-ketoglutarate binding.|Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 CCTCGGTTTAGTTCCACCCAC 0.403 17 46 --- --- --- --- PASS GPR97 222487 broad.mit.edu 37 16 57713122 57713122 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:57713122G>T uc002emh.2 + 5 629 c.526G>T c.(526-528)GTG>TTG p.V176L GPR97_uc010vhv.1_Missense_Mutation_p.V56L|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_5'Flank NM_170776 NP_740746 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 precursor 176 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1) 1 TGGCAGCGGCGTGTTGAACAA 0.642 27 60 --- --- --- --- PASS CCDC113 29070 broad.mit.edu 37 16 58287931 58287931 + Silent SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:58287931G>T uc002ene.2 + 3 337 c.258G>T c.(256-258)CGG>CGT p.R86R CCDC113_uc010vid.1_Intron NM_014157 NP_054876 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 isoform 1 86 protein complex 0 CCAAATCCCGGACAGGTATGG 0.502 14 43 --- --- --- --- PASS PKD1L2 114780 broad.mit.edu 37 16 81214831 81214831 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr16:81214831C>A uc002fgh.1 - 12 2043 c.2043G>T c.(2041-2043)CTG>CTT p.L681L PKD1L2_uc002fgg.1_RNA|PKD1L2_uc002fgi.2_5'UTR|PKD1L2_uc002fgj.2_Silent_p.L681L|PKD1L2_uc002fgl.1_5'UTR NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 681 REJ.|Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 TGACCCTGAGCAGAATGTCTT 0.517 13 40 --- --- --- --- PASS PELP1 27043 broad.mit.edu 37 17 4575276 4575276 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:4575276C>A uc002fyi.3 - 16 3236 c.3010G>T c.(3010-3012)GGG>TGG p.G1004W PELP1_uc010vsf.1_Intron NM_014389 NP_055204 Q8IZL8 PELP1_HUMAN proline, glutamic acid and leucine rich protein 1004 Glu-rich.|Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding ovary(1)|central_nervous_system(1) 2 AAAAGCAGCCCGGGTTCAGGT 0.662 7 2 --- --- --- --- PASS MYH1 4619 broad.mit.edu 37 17 10415213 10415213 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:10415213C>A uc002gmo.2 - 14 1453 c.1359G>T c.(1357-1359)AAG>AAT p.K453N uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 453 Myosin head-like. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GCCTGGGCTGCTTGGTGTCCA 0.478 131 44 --- --- --- --- PASS FLCN 201163 broad.mit.edu 37 17 17131272 17131272 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:17131272C>A uc002gra.3 - 4 684 c.180G>T c.(178-180)GCG>GCT p.A60A PLD6_uc010cpn.2_Intron|FLCN_uc002grb.3_Silent_p.A60A|FLCN_uc002grc.2_Silent_p.A60A NM_144997 NP_659434 Q8NFG4 FLCN_HUMAN folliculin isoform 1 60 regulation of protein phosphorylation cytoplasm|nucleus|plasma membrane protein binding thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1) 3 CGGGGCTGTGCGCACGCATCC 0.607 Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer 27 14 --- --- --- --- PASS COPS3 8533 broad.mit.edu 37 17 17179477 17179477 + Silent SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:17179477C>T uc002grd.2 - 2 148 c.57G>A c.(55-57)GGG>GGA p.G19G COPS3_uc010vwv.1_5'UTR|COPS3_uc010vww.1_5'UTR NM_003653 NP_003644 Q9UNS2 CSN3_HUMAN COP9 constitutive photomorphogenic homolog 19 cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding skin(1) 1 GTGTCATTTGCCCTGGAAAAC 0.463 3 62 --- --- --- --- PASS PRR11 55771 broad.mit.edu 37 17 57272786 57272786 + Missense_Mutation SNP G T T rs563868 byFrequency TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:57272786G>T uc002ixf.1 + 7 918 c.839G>T c.(838-840)CGA>CTA p.R280L PRR11_uc002ixg.1_RNA NM_018304 NP_060774 Q96HE9 PRR11_HUMAN proline rich 11 280 ovary(2) 2 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TTATCGACTCGAGTTACAAAC 0.388 32 19 --- --- --- --- PASS HEATR6 63897 broad.mit.edu 37 17 58126990 58126990 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:58126990G>T uc002iyk.1 - 16 2515 c.2498C>A c.(2497-2499)GCA>GAA p.A833E HEATR6_uc010ddk.1_Missense_Mutation_p.A372E|HEATR6_uc010wos.1_Missense_Mutation_p.A553E NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 833 binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) CCGTGAAGTTGCAGCTTTCAC 0.498 3 47 --- --- --- --- PASS APOH 350 broad.mit.edu 37 17 64210612 64210612 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:64210612T>A uc002jfn.3 - 7 1000 c.941A>T c.(940-942)CAG>CTG p.Q314L NM_000042 NP_000033 P02749 APOH_HUMAN apolipoprotein H precursor 314 Sushi-like. blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding 0 BRCA - Breast invasive adenocarcinoma(6;9.74e-08) ATCTATACACTGAGCATCCTC 0.398 54 24 --- --- --- --- PASS COLEC12 81035 broad.mit.edu 37 18 335123 335123 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr18:335123C>T uc002kkm.2 - 6 1650 c.1435G>A c.(1435-1437)GGC>AGC p.G479S NM_130386 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 479 Collagen-like 2.|Extracellular (Potential). carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity ovary(1)|pancreas(1) 2 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCCGCAGGGCCAGGTGGTCCA 0.667 33 45 --- --- --- --- PASS LAMA1 284217 broad.mit.edu 37 18 7049209 7049209 + Silent SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr18:7049209T>A uc002knm.2 - 5 730 c.636A>T c.(634-636)TCA>TCT p.S212S LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 212 Laminin N-terminal. 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) ACAACTTGGGTGAAAGATCGT 0.413 23 45 --- --- --- --- PASS PPP4R1 9989 broad.mit.edu 37 18 9570624 9570624 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr18:9570624T>C uc002koe.1 - 11 1222 c.1104A>G c.(1102-1104)TCA>TCG p.S368S PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Silent_p.S214S|PPP4R1_uc002kod.1_Silent_p.S351S|PPP4R1_uc010wzp.1_RNA NM_001042388 NP_001035847 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 368 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity skin(1) 1 CACTGAGATCTGAAGGAGTAT 0.438 36 45 --- --- --- --- PASS CABYR 26256 broad.mit.edu 37 18 21736470 21736470 + Missense_Mutation SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr18:21736470A>T uc002kux.2 + 4 1157 c.1005A>T c.(1003-1005)GAA>GAT p.E335D CABYR_uc010xbb.1_Missense_Mutation_p.E237D|CABYR_uc002kuy.2_Intron|CABYR_uc002kuz.2_Intron|CABYR_uc002kva.2_Missense_Mutation_p.E317D|CABYR_uc002kvb.2_Intron|CABYR_uc002kvc.2_Intron|CABYR_uc010dlw.2_RNA NM_012189 NP_036321 O75952 CABYR_HUMAN calcium-binding tyrosine 335 ciliary or flagellar motility|signal transduction|sperm capacitation cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding 0 all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17) AGTCAAAAGAAAATGAGCAGT 0.388 21 42 --- --- --- --- PASS ATP8B3 148229 broad.mit.edu 37 19 1800301 1800301 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:1800301G>C uc002ltw.2 - 13 1534 c.1300C>G c.(1300-1302)CTC>GTC p.L434V ATP8B3_uc002ltv.2_Missense_Mutation_p.L387V|ATP8B3_uc002ltx.2_RNA|ATP8B3_uc002lty.1_Missense_Mutation_p.L182V|ATP8B3_uc002ltz.1_Missense_Mutation_p.L381V NM_138813 NP_620168 O60423 AT8B3_HUMAN ATPase, class I, type 8B, member 3 434 Helical; (Potential). ATP biosynthetic process ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCAGGATGAGGAAGCTCCAG 0.592 9 32 --- --- --- --- PASS CD209 30835 broad.mit.edu 37 19 7810680 7810680 + Missense_Mutation SNP C G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:7810680C>G uc002mht.2 - 4 539 c.472G>C c.(472-474)GGT>CGT p.G158R CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.G134R|CD209_uc002mhr.2_Missense_Mutation_p.G134R|CD209_uc002mhs.2_Missense_Mutation_p.G134R|CD209_uc002mhu.2_Missense_Mutation_p.E158Q|CD209_uc010dvq.2_Missense_Mutation_p.G158R|CD209_uc002mhq.2_Missense_Mutation_p.G158R|CD209_uc002mhv.2_Missense_Mutation_p.G134R|CD209_uc002mhx.2_Missense_Mutation_p.G114R|CD209_uc002mhw.2_Missense_Mutation_p.E114Q|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 158 Extracellular (Probable).|7 X approximate tandem repeats.|3. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding skin(1) 1 GGAAGCTCACCCACTGCAGCC 0.557 101 116 --- --- --- --- PASS LASS4 79603 broad.mit.edu 37 19 8319436 8319436 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:8319436G>T uc002mjg.2 + 4 547 c.227G>T c.(226-228)AGG>ATG p.R76M LASS4_uc002mjh.2_Missense_Mutation_p.R25M|LASS4_uc002mji.2_Translation_Start_Site|LASS4_uc010dvz.2_Missense_Mutation_p.R76M NM_024552 NP_078828 Q9HA82 CERS4_HUMAN LAG1 homolog, ceramide synthase 4 76 Homeobox. endoplasmic reticulum membrane|integral to membrane|nuclear membrane sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity ovary(1) 1 CAGACCAGGAGGCAAGTGAAG 0.622 9 20 --- --- --- --- PASS ZNF560 147741 broad.mit.edu 37 19 9578620 9578620 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:9578620G>A uc002mlp.1 - 10 1213 c.1003C>T c.(1003-1005)CAT>TAT p.H335Y ZNF560_uc010dwr.1_Missense_Mutation_p.H229Y NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 335 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TTTACAGCATGGCTTGTGGAG 0.378 66 23 --- --- --- --- PASS MED26 9441 broad.mit.edu 37 19 16687644 16687644 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:16687644G>A uc002nen.1 - 3 1258 c.997C>T c.(997-999)CCC>TCC p.P333S MED26_uc002nee.2_RNA NM_004831 NP_004822 O95402 MED26_HUMAN mediator complex subunit 26 333 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity ovary(2) 2 TCCGCACTGGGCAGCAGCTCG 0.721 15 1 --- --- --- --- PASS NCAN 1463 broad.mit.edu 37 19 19335983 19335983 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:19335983G>T uc002nlz.2 + 6 1075 c.976G>T c.(976-978)GGG>TGG p.G326W NCAN_uc010ecc.1_5'Flank NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 326 Link 2. axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) ccggcgctgcgggggcccagc 0.577 3 2 --- --- --- --- PASS ZNF676 163223 broad.mit.edu 37 19 22363549 22363549 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:22363549G>A uc002nqs.1 - 3 1288 c.970C>T c.(970-972)CTT>TTT p.L324F NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 324 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TGTTCAGTAAGGCTTGAGGAC 0.418 11 75 --- --- --- --- PASS ZNF91 7644 broad.mit.edu 37 19 23542727 23542727 + Silent SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:23542727T>C uc002nre.2 - 4 3167 c.3054A>G c.(3052-3054)GGA>GGG p.G1018G ZNF91_uc002nrd.2_5'Flank|ZNF91_uc010xrj.1_Silent_p.G986G NM_003430 NP_003421 Q05481 ZNF91_HUMAN zinc finger protein 91 1018 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611) ATGGTTTCTCTCCAGTGTGCA 0.383 29 21 --- --- --- --- PASS LSM14A 26065 broad.mit.edu 37 19 34699941 34699941 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:34699941A>G uc002nvb.3 + 4 719 c.523A>G c.(523-525)ACA>GCA p.T175A LSM14A_uc002nva.3_Missense_Mutation_p.T175A|LSM14A_uc010xru.1_Intron|LSM14A_uc002nvc.3_5'UTR NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN LSM14 homolog A isoform a 175 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule skin(1) 1 Esophageal squamous(110;0.162) ATCTCTAAAAACACAGTTATC 0.373 18 68 --- --- --- --- PASS C19orf55 148137 broad.mit.edu 37 19 36259086 36259086 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:36259086C>T uc002obq.1 + 10 1323 c.1250C>T c.(1249-1251)TCC>TTC p.S417F NM_001039887 NP_001034976 Q2NL68 CS055_HUMAN hypothetical protein LOC148137 Error:Variant_position_missing_in_Q2NL68_after_alignment ovary(1) 1 all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGACGATCCCGTGCTGCA 0.632 4 23 --- --- --- --- PASS ZNF382 84911 broad.mit.edu 37 19 37117851 37117851 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:37117851C>A uc002oek.2 + 5 1165 c.1052C>A c.(1051-1053)CCC>CAC p.P351H ZNF382_uc010efa.2_Missense_Mutation_p.P302H|ZNF382_uc010efb.2_Missense_Mutation_p.P350H|ZNF382_uc002oel.2_Missense_Mutation_p.P350H NM_032825 NP_116214 Q96SR6 ZN382_HUMAN zinc finger protein 382 351 Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GAGGGGAAACCCTTTATTTGT 0.468 19 97 --- --- --- --- PASS RYR1 6261 broad.mit.edu 37 19 38959614 38959614 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:38959614C>A uc002oit.2 + 26 3520 c.3390C>A c.(3388-3390)CGC>CGA p.R1130R RYR1_uc002oiu.2_Silent_p.R1130R NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 1130 6 X approximate repeats.|Cytoplasmic.|B30.2/SPRY 2. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGGCCAGCGCTGGCACTTGG 0.552 37 23 --- --- --- --- PASS ACTN4 81 broad.mit.edu 37 19 39207810 39207810 + Nonsense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:39207810G>T uc002oja.1 + 10 1056 c.997G>T c.(997-999)GAG>TAG p.E333* ACTN4_uc010egc.1_Nonsense_Mutation_p.E333* NM_004924 NP_004915 O43707 ACTN4_HUMAN actinin, alpha 4 333 Spectrin 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity 0 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) GCAGAAGCTGGAGGACTTCCG 0.617 11 15 --- --- --- --- PASS ARHGEF1 9138 broad.mit.edu 37 19 42399546 42399546 + Silent SNP A T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:42399546A>T uc002orx.2 + 12 1111 c.1002A>T c.(1000-1002)CCA>CCT p.P334P ARHGEF1_uc002orw.1_Silent_p.P334P|ARHGEF1_uc002ory.2_Silent_p.P301P|ARHGEF1_uc002orz.2_Silent_p.P172P|ARHGEF1_uc002osa.2_Silent_p.P349P|ARHGEF1_uc002osb.2_Silent_p.P316P|ARHGEF1_uc002osc.2_Silent_p.P28P|ARHGEF1_uc002osd.2_5'Flank NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 334 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) TGGACAGCCCAGACCGGGAAC 0.677 18 81 --- --- --- --- PASS BCAM 4059 broad.mit.edu 37 19 45322052 45322052 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:45322052G>T uc002ozu.2 + 10 1293 c.1249G>T c.(1249-1251)GAT>TAT p.D417Y BCAM_uc002ozt.1_Missense_Mutation_p.D417Y NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 417 Extracellular (Potential).|Ig-like C2-type 2. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) TATCACCTTCGATTCCAATGG 0.632 10 123 --- --- --- --- PASS GPR77 27202 broad.mit.edu 37 19 47844851 47844851 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:47844851C>A uc010ela.1 + 2 1013 c.795C>A c.(793-795)CTC>CTA p.L265L GPR77_uc002pgk.1_Silent_p.L265L NM_018485 NP_060955 Q9P296 C5ARL_HUMAN G protein-coupled receptor 77 265 Extracellular (Potential). chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity ovary(1) 1 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) ACTCCGCACTCCTGGCCAGGG 0.647 23 108 --- --- --- --- PASS CD37 951 broad.mit.edu 37 19 49840422 49840422 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:49840422C>T uc002pnd.2 + 4 407 c.286C>T c.(286-288)CTC>TTC p.L96F uc002pnb.1_Intron|CD37_uc002pnc.2_RNA|CD37_uc010yam.1_Missense_Mutation_p.L96F|CD37_uc010yan.1_Missense_Mutation_p.L28F|CD37_uc002pnf.3_Missense_Mutation_p.L68F|CD37_uc002pne.2_Missense_Mutation_p.L28F NM_001774 NP_001765 P11049 CD37_HUMAN CD37 antigen isoform A 96 Helical; (Potential). integral to membrane 0 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) GATGCTGCTGCTCCTGTTTGC 0.612 60 42 --- --- --- --- PASS ZNF610 162963 broad.mit.edu 37 19 52857617 52857617 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:52857617A>G uc002pyx.3 + 5 710 c.304A>G c.(304-306)AGA>GGA p.R102G ZNF610_uc002pyy.3_Missense_Mutation_p.R102G|ZNF610_uc002pyz.3_Intron|ZNF610_uc002pza.2_Missense_Mutation_p.R102G NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) GGAATGTGTCAGAAGCGTGAA 0.313 20 57 --- --- --- --- PASS C20orf141 128653 broad.mit.edu 37 20 2796209 2796209 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:2796209C>A uc010gat.2 + 3 369 c.286C>A c.(286-288)CGC>AGC p.R96S C20orf141_uc002wgv.1_Intron|C20orf141_uc002wgw.2_Missense_Mutation_p.R96S|uc002wgx.1_5'Flank|uc002wgy.1_5'Flank NM_080739 NP_542777 Q9NUB4 CT141_HUMAN hypothetical protein LOC128653 96 Leu-rich. integral to membrane 0 TCTGCCACAGCGCAAACTTCT 0.617 16 35 --- --- --- --- PASS FAM113A 64773 broad.mit.edu 37 20 2819336 2819336 + Missense_Mutation SNP C T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:2819336C>T uc002wgz.1 - 5 997 c.500G>A c.(499-501)CGC>CAC p.R167H FAM113A_uc002whb.1_Missense_Mutation_p.A19T|FAM113A_uc002wha.1_Missense_Mutation_p.A19T|FAM113A_uc010zqa.1_Missense_Mutation_p.R14H|FAM113A_uc002whc.1_Missense_Mutation_p.R116H|VPS16_uc002whe.2_5'Flank|VPS16_uc002whf.2_5'Flank|VPS16_uc002whd.2_5'Flank NM_022760 NP_073597 Q9H1Q7 F113A_HUMAN hypothetical protein LOC64773 167 hydrolase activity|protein binding ovary(2) 2 TTGGTCCATGCGCACAAACAC 0.577 4 156 --- --- --- --- PASS BFSP1 631 broad.mit.edu 37 20 17489538 17489538 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:17489538G>T uc002wpo.2 - 5 770 c.731C>A c.(730-732)GCA>GAA p.A244E BFSP1_uc002wpp.2_Missense_Mutation_p.A119E|BFSP1_uc010zrn.1_Missense_Mutation_p.A105E|BFSP1_uc010zro.1_Missense_Mutation_p.A105E NM_001195 NP_001186 Q12934 BFSP1_HUMAN filensin isoform 1 244 Rod.|Coil 2. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1) 1 GCGTACCTGTGCCTGCAGCTC 0.652 3 4 --- --- --- --- PASS ZMYND8 23613 broad.mit.edu 37 20 45865220 45865220 + Silent SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:45865220G>T uc002xta.1 - 16 2900 c.2646C>A c.(2644-2646)TCC>TCA p.S882S ZMYND8_uc010ghq.1_Silent_p.S513S|ZMYND8_uc010ghr.1_Silent_p.S811S|ZMYND8_uc002xst.1_Silent_p.S764S|ZMYND8_uc002xsu.1_Silent_p.S755S|ZMYND8_uc002xsv.1_Silent_p.S810S|ZMYND8_uc002xsw.1_Silent_p.S588S|ZMYND8_uc002xsx.1_Silent_p.S588S|ZMYND8_uc002xsy.1_Silent_p.S811S|ZMYND8_uc002xsz.1_Silent_p.S773S|ZMYND8_uc010zxy.1_Silent_p.S909S|ZMYND8_uc002xtb.1_Silent_p.S856S|ZMYND8_uc002xss.2_Silent_p.S882S|ZMYND8_uc010zxz.1_Silent_p.S750S|ZMYND8_uc002xtc.1_Silent_p.S856S|ZMYND8_uc002xtd.1_Silent_p.S831S|ZMYND8_uc002xte.1_Silent_p.S836S|ZMYND8_uc010zya.1_Silent_p.S882S|ZMYND8_uc002xtf.1_Silent_p.S902S|ZMYND8_uc002xsr.1_5'UTR NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 882 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) GGGTGATGGTGGACGTGGATG 0.592 20 43 --- --- --- --- PASS ZMYND8 23613 broad.mit.edu 37 20 45905064 45905064 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:45905064T>C uc002xta.1 - 11 1668 c.1414A>G c.(1414-1416)AGC>GGC p.S472G ZMYND8_uc010ghq.1_Missense_Mutation_p.S149G|ZMYND8_uc010ghr.1_Missense_Mutation_p.S447G|ZMYND8_uc002xst.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsu.1_Missense_Mutation_p.S472G|ZMYND8_uc002xsv.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsw.1_Missense_Mutation_p.S224G|ZMYND8_uc002xsx.1_Missense_Mutation_p.S224G|ZMYND8_uc002xsy.1_Missense_Mutation_p.S447G|ZMYND8_uc002xsz.1_Missense_Mutation_p.S409G|ZMYND8_uc010zxy.1_Missense_Mutation_p.S499G|ZMYND8_uc002xtb.1_Missense_Mutation_p.S492G|ZMYND8_uc002xss.2_Missense_Mutation_p.S472G|ZMYND8_uc010zxz.1_Missense_Mutation_p.S467G|ZMYND8_uc002xtc.1_Missense_Mutation_p.S492G|ZMYND8_uc002xtd.1_Missense_Mutation_p.S467G|ZMYND8_uc002xte.1_Missense_Mutation_p.S472G|ZMYND8_uc010zya.1_Missense_Mutation_p.S472G|ZMYND8_uc002xtf.1_Missense_Mutation_p.S492G|ZMYND8_uc002xtg.2_Missense_Mutation_p.S466G|ZMYND8_uc010ghs.1_Missense_Mutation_p.S466G NM_012408 NP_036540 Q9ULU4 PKCB1_HUMAN zinc finger, MYND-type containing 8 isoform b 472 protein binding|zinc ion binding central_nervous_system(2)|urinary_tract(1)|ovary(1)|skin(1) 5 Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154) TGACCTGTGCTCTTATCCAGG 0.627 18 12 --- --- --- --- PASS NFATC2 4773 broad.mit.edu 37 20 50049292 50049292 + Silent SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:50049292G>A uc002xwd.2 - 9 2254 c.2034C>T c.(2032-2034)GTC>GTT p.V678V NFATC2_uc002xwc.2_Silent_p.V678V|NFATC2_uc010zyv.1_Silent_p.V459V|NFATC2_uc010zyw.1_Silent_p.V459V|NFATC2_uc010zyx.1_Silent_p.V658V|NFATC2_uc010zyy.1_Silent_p.V459V|NFATC2_uc010zyz.1_Silent_p.V459V|NFATC2_uc002xwe.2_Silent_p.V658V NM_173091 NP_775114 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, 678 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 Hepatocellular(150;0.248) TGATGGCTGGGACTGGGAGGA 0.607 8 41 --- --- --- --- PASS SLCO4A1 28231 broad.mit.edu 37 20 61288044 61288044 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:61288044G>A uc002ydb.1 + 2 443 c.238G>A c.(238-240)GCC>ACC p.A80T SLCO4A1_uc002ydc.1_RNA NM_016354 NP_057438 Q96BD0 SO4A1_HUMAN solute carrier organic anion transporter family 80 Cytoplasmic (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(1) 1 Breast(26;3.65e-08) BRCA - Breast invasive adenocarcinoma(19;2.33e-06) GTACGTCTCGGCCGGGCAGAG 0.706 5 7 --- --- --- --- PASS EEF1A2 1917 broad.mit.edu 37 20 62120282 62120282 + Missense_Mutation SNP T G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:62120282T>G uc002yfd.1 - 6 1354 c.1253A>C c.(1252-1254)TAC>TCC p.Y418S EEF1A2_uc002yfe.1_Missense_Mutation_p.Y418S|EEF1A2_uc010gkg.1_Intron NM_001958 NP_001949 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 418 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity 0 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) GAGAGGCGGGTACTGGGAGAA 0.667 5 18 --- --- --- --- PASS PRIC285 85441 broad.mit.edu 37 20 62200693 62200693 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr20:62200693C>A uc002yfm.2 - 5 1788 c.896G>T c.(895-897)CGC>CTC p.R299L PRIC285_uc002yfl.1_5'Flank NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 299 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CACCACGTGGCGGTTGCCAGT 0.701 7 12 --- --- --- --- PASS TIAM1 7074 broad.mit.edu 37 21 32496948 32496948 + Missense_Mutation SNP T C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr21:32496948T>C uc002yow.1 - 28 4670 c.4198A>G c.(4198-4200)AGA>GGA p.R1400G TIAM1_uc011adk.1_Missense_Mutation_p.R1400G|TIAM1_uc011adl.1_Missense_Mutation_p.R1340G NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1400 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AGGAGCTGTCTTCTGTGCTTA 0.498 10 32 --- --- --- --- PASS ADORA2A 135 broad.mit.edu 37 22 24837043 24837043 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr22:24837043C>A uc002zzx.2 + 5 1588 c.825C>A c.(823-825)GTC>GTA p.V275V ADORA2A_uc002zzy.3_Silent_p.V275V|ADORA2A_uc011ajs.1_Silent_p.V136V|ADORA2A_uc010gup.2_Silent_p.V275V|ADORA2A_uc010guq.2_Silent_p.V275V|ADORA2A_uc003aab.2_Silent_p.V275V|ADORA2A_uc003aac.2_Silent_p.V136V|C22orf45_uc003aad.1_Intron NM_000675 NP_000666 P29274 AA2AR_HUMAN adenosine A2a receptor 275 Helical; Name=7. apoptosis|blood coagulation|cAMP biosynthetic process|cellular defense response|inflammatory response|nerve growth factor receptor signaling pathway|phagocytosis|sensory perception integral to plasma membrane|membrane fraction enzyme binding 0 Colorectal(2;0.196) Caffeine(DB00201)|Defibrotide(DB04932)|Pegademase bovine(DB00061)|Theophylline(DB00277) TGGCCATCGTCCTCTCCCACA 0.577 18 39 --- --- --- --- PASS CDC42EP1 11135 broad.mit.edu 37 22 37964498 37964498 + Missense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr22:37964498C>A uc003asz.3 + 3 1250 c.847C>A c.(847-849)CAT>AAT p.H283N NM_152243 NP_689449 Q00587 BORG5_HUMAN CDC42 effector protein 1 283 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane protein binding 0 Melanoma(58;0.0574) CTCCACACCCCATGGACACTG 0.677 3 4 --- --- --- --- PASS EFCAB6 64800 broad.mit.edu 37 22 43926757 43926757 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr22:43926757G>T uc003bdy.1 - 31 4536 c.4321C>A c.(4321-4323)CGC>AGC p.R1441S EFCAB6_uc003bdz.1_Missense_Mutation_p.R1289S|EFCAB6_uc010gzi.1_Missense_Mutation_p.R1289S NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 1441 Interaction with AR.|EF-hand 16.|Interaction with PARK7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TTGAACGTGCGCCGCATTGGC 0.567 20 31 --- --- --- --- PASS CELSR1 9620 broad.mit.edu 37 22 46932037 46932037 + Missense_Mutation SNP T G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr22:46932037T>G uc003bhw.1 - 1 1031 c.1031A>C c.(1030-1032)AAA>ACA p.K344T NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 344 Extracellular (Potential).|Cadherin 1. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GTTGGTGTCTTTGACCAAGAC 0.647 11 37 --- --- --- --- PASS NLGN4X 57502 broad.mit.edu 37 X 5811526 5811526 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:5811526G>A uc010ndh.2 - 6 2284 c.1783C>T c.(1783-1785)CCT>TCT p.P595S NLGN4X_uc004crp.2_Missense_Mutation_p.P615S|NLGN4X_uc004crq.2_Missense_Mutation_p.P595S|NLGN4X_uc010ndi.2_Missense_Mutation_p.P632S|NLGN4X_uc004crr.2_Missense_Mutation_p.P595S|NLGN4X_uc010ndj.2_Missense_Mutation_p.P595S NM_181332 NP_851849 Q8N0W4 NLGNX_HUMAN X-linked neuroligin 4 precursor 595 Extracellular (Potential). brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity skin(2)|large_intestine(1)|ovary(1) 4 TGCAAATGAGGAACGAGTTCC 0.468 44 72 --- --- --- --- PASS NHS 4810 broad.mit.edu 37 X 17750482 17750482 + Silent SNP C G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:17750482C>G uc004cxx.2 + 8 5129 c.4791C>G c.(4789-4791)CGC>CGG p.R1597R NHS_uc011mix.1_Silent_p.R1618R|NHS_uc004cxy.2_Silent_p.R1441R|NHS_uc004cxz.2_Silent_p.R1420R|NHS_uc004cya.2_Silent_p.R1320R NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1597 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) ACAGTGTCCGCTGCCGGCTGT 0.587 29 54 --- --- --- --- PASS SYTL5 94122 broad.mit.edu 37 X 37961665 37961665 + Missense_Mutation SNP G A A rs148783666 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:37961665G>A uc004ddu.2 + 11 1667 c.1133G>A c.(1132-1134)CGT>CAT p.R378H SYTL5_uc004ddv.2_Missense_Mutation_p.R378H|SYTL5_uc004ddx.2_Missense_Mutation_p.R378H NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 378 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 AACACTCACCGTCTGGCAAGT 0.413 24 47 --- --- --- --- PASS OTC 5009 broad.mit.edu 37 X 38226644 38226644 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:38226644T>A uc004def.3 + 2 392 c.178T>A c.(178-180)TCA>ACA p.S60T NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 60 S -> L (in OTCD). arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) GCTATGGCTATCAGCAGATCT 0.378 33 66 --- --- --- --- PASS OTC 5009 broad.mit.edu 37 X 38268031 38268031 + Missense_Mutation SNP G A A rs72558430 TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:38268031G>A uc004def.3 + 7 914 c.700G>A c.(700-702)GAG>AAG p.E234K NM_000531 NP_000522 P00480 OTC_HUMAN ornithine carbamoyltransferase precursor 234 arginine biosynthetic process|urea cycle mitochondrial matrix|ornithine carbamoyltransferase complex ornithine carbamoyltransferase activity ovary(1)|breast(1) 2 L-Citrulline(DB00155)|L-Ornithine(DB00129) CAAGTTGGCAGAGCAGTATGC 0.333 17 33 --- --- --- --- PASS USP11 8237 broad.mit.edu 37 X 47104082 47104082 + Silent SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:47104082A>G uc004dhp.2 + 15 1974 c.1974A>G c.(1972-1974)GAA>GAG p.E658E USP11_uc004dhq.2_Splice_Site_p.D385_splice NM_004651 NP_004642 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 658 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(1)|lung(1)|central_nervous_system(1) 3 CTGTCCTAGAAGATGACGAGG 0.587 6 11 --- --- --- --- PASS KDM5C 8242 broad.mit.edu 37 X 53228048 53228048 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:53228048G>T uc004drz.2 - 16 2799 c.2266C>A c.(2266-2268)CTT>ATT p.L756I KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.L689I|KDM5C_uc004dsa.2_Missense_Mutation_p.L755I NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 756 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 ATGGCAGGAAGCTCATCCAAG 0.587 N|F|S clear cell renal carcinoma 6 52 --- --- --- --- PASS TRO 7216 broad.mit.edu 37 X 54952922 54952922 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:54952922G>C uc004dtq.2 + 8 1764 c.1657G>C c.(1657-1659)GCT>CCT p.A553P TRO_uc004dts.2_Missense_Mutation_p.A553P|TRO_uc004dtr.2_Missense_Mutation_p.A553P|TRO_uc004dtt.2_RNA|TRO_uc004dtu.2_RNA|TRO_uc004dtv.2_Missense_Mutation_p.A156P|TRO_uc011mok.1_Missense_Mutation_p.A84P|TRO_uc004dtw.2_Missense_Mutation_p.A156P|TRO_uc004dtx.2_5'UTR NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 553 MAGE. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 GGCCAGTGAGGGTGAGTGGCT 0.522 20 38 --- --- --- --- PASS LAS1L 81887 broad.mit.edu 37 X 64749617 64749617 + Missense_Mutation SNP A C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:64749617A>C uc004dwa.1 - 5 728 c.656T>G c.(655-657)GTT>GGT p.V219G LAS1L_uc004dwc.1_Missense_Mutation_p.V219G|LAS1L_uc004dwd.1_Missense_Mutation_p.V177G NM_031206 NP_112483 Q9Y4W2 LAS1L_HUMAN LAS1-like 219 MLL1 complex|nucleolus protein binding ovary(3)|large_intestine(1) 4 GATGTCATCAACAACAATGTT 0.502 48 129 --- --- --- --- PASS MED12 9968 broad.mit.edu 37 X 70347886 70347886 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:70347886G>T uc004dyy.2 + 22 3324 c.3125G>T c.(3124-3126)AGT>ATT p.S1042I MED12_uc011mpq.1_Missense_Mutation_p.S1042I|MED12_uc004dyz.2_Missense_Mutation_p.S1042I|MED12_uc004dza.2_Missense_Mutation_p.S889I|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1042 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) CTAGGCAAGAGTCTTAGTGAG 0.532 15 39 --- --- --- --- PASS CYLC1 1538 broad.mit.edu 37 X 83128311 83128311 + Missense_Mutation SNP G C C TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:83128311G>C uc004eei.1 + 4 616 c.595G>C c.(595-597)GAT>CAT p.D199H CYLC1_uc004eeh.1_Missense_Mutation_p.D198H NM_021118 NP_066941 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head 199 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity ovary(4)|skin(1) 5 TTCACAAAAAGATAAGAAAGA 0.313 17 21 --- --- --- --- PASS DIAPH2 1730 broad.mit.edu 37 X 96203955 96203955 + Silent SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:96203955C>A uc004efu.3 + 15 1927 c.1531C>A c.(1531-1533)CGA>AGA p.R511R DIAPH2_uc004eft.3_Silent_p.R511R NM_006729 NP_006720 O60879 DIAP2_HUMAN diaphanous 2 isoform 156 511 Potential. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding ovary(3)|lung(1) 4 ATTCACAGCTCGACAGGAAGC 0.348 7 25 --- --- --- --- PASS TNMD 64102 broad.mit.edu 37 X 99854654 99854654 + Silent SNP C G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:99854654C>G uc004efy.3 + 7 1120 c.894C>G c.(892-894)GTC>GTG p.V298V TNMD_uc004efz.2_3'UTR NM_022144 NP_071427 Q9H2S6 TNMD_HUMAN tenomodulin 298 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 GAGGACGAGTCATCTGTCGTG 0.517 14 17 --- --- --- --- PASS CXorf57 55086 broad.mit.edu 37 X 105865895 105865895 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:105865895T>A uc004emi.3 + 2 809 c.658T>A c.(658-660)TCC>ACC p.S220T CXorf57_uc004emj.3_Missense_Mutation_p.S220T|CXorf57_uc004emh.2_Missense_Mutation_p.S220T NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 220 ovary(1)|lung(1)|breast(1) 3 CAAAATAATTTCCCTTTCTCA 0.308 13 31 --- --- --- --- PASS MORC4 79710 broad.mit.edu 37 X 106205335 106205335 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:106205335G>T uc004emu.3 - 10 1406 c.1163C>A c.(1162-1164)ACA>AAA p.T388K MORC4_uc004emp.3_Intron|MORC4_uc004emv.3_Missense_Mutation_p.T388K|MORC4_uc004emw.3_Missense_Mutation_p.T136K NM_024657 NP_078933 Q8TE76 MORC4_HUMAN zinc finger, CW type with coiled-coil domain 2 388 ATP binding|zinc ion binding ovary(1) 1 GGCATTTATTGTTAGCCTGAA 0.373 49 109 --- --- --- --- PASS TMEM164 84187 broad.mit.edu 37 X 109414655 109414655 + Nonsense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:109414655C>A uc004eom.2 + 6 913 c.594C>A c.(592-594)TAC>TAA p.Y198* TMEM164_uc004eol.2_Nonsense_Mutation_p.Y49*|TMEM164_uc010npq.2_Nonsense_Mutation_p.Y159* NM_032227 NP_115603 Q5U3C3 TM164_HUMAN transmembrane protein 164 isoform b 198 integral to membrane large_intestine(1)|lung(1)|skin(1) 3 CAGGTGCTTACACTCCAGAGC 0.537 97 260 --- --- --- --- PASS RGAG1 57529 broad.mit.edu 37 X 109696915 109696915 + Missense_Mutation SNP T A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:109696915T>A uc004eor.1 + 3 3316 c.3070T>A c.(3070-3072)TCT>ACT p.S1024T RGAG1_uc011msr.1_Missense_Mutation_p.S1024T NM_020769 NP_065820 Q8NET4 RGAG1_HUMAN retrotransposon gag domain containing 1 1024 lung(2)|upper_aerodigestive_tract(1)|ovary(1) 4 AGCCTCTGCTTCTGGAGCAAG 0.498 68 131 --- --- --- --- PASS THOC2 57187 broad.mit.edu 37 X 122759797 122759797 + Missense_Mutation SNP G A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:122759797G>A uc004etu.2 - 25 3055 c.3023C>T c.(3022-3024)ACT>ATT p.T1008I THOC2_uc004etw.1_5'Flank NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1008 intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 AAAATTTGGAGTTTTCTGTTG 0.313 27 39 --- --- --- --- PASS ARHGAP36 158763 broad.mit.edu 37 X 130218915 130218915 + Missense_Mutation SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:130218915G>T uc004evz.2 + 7 1177 c.832G>T c.(832-834)GAT>TAT p.D278Y ARHGAP36_uc004ewa.2_Missense_Mutation_p.D266Y|ARHGAP36_uc004ewb.2_Missense_Mutation_p.D247Y|ARHGAP36_uc004ewc.2_Missense_Mutation_p.D142Y NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 278 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 TCAAGGTCTGGATGTAGTGCT 0.488 37 76 --- --- --- --- PASS MAP7D3 79649 broad.mit.edu 37 X 135309466 135309466 + Nonsense_Mutation SNP C A A TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:135309466C>A uc004ezt.2 - 12 2102 c.2011G>T c.(2011-2013)GAA>TAA p.E671* MAP7D3_uc004ezs.2_Nonsense_Mutation_p.E635*|MAP7D3_uc011mwc.1_Nonsense_Mutation_p.E653*|MAP7D3_uc010nsa.1_Nonsense_Mutation_p.E629* NM_024597 NP_078873 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 671 cytoplasm|spindle ovary(2)|central_nervous_system(1)|skin(1) 4 Acute lymphoblastic leukemia(192;0.000127) TCCTGGTCTTCCTGATCCAGC 0.453 28 58 --- --- --- --- PASS RBMX 27316 broad.mit.edu 37 X 135958790 135958790 + Missense_Mutation SNP A G G TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:135958790A>G uc004fae.1 - 5 623 c.413T>C c.(412-414)TTT>TCT p.F138S RBMX_uc004fac.1_5'Flank|RBMX_uc011mwf.1_Intron|RBMX_uc004fad.1_Missense_Mutation_p.F138S|RBMX_uc011mwg.1_Missense_Mutation_p.F99S|RBMX_uc004faf.1_5'UTR|RBMX_uc010nsf.1_Missense_Mutation_p.F99S|RBMX_uc004fag.1_Missense_Mutation_p.F10S NM_002139 NP_002130 P38159 HNRPG_HUMAN RNA binding motif protein, X-linked isoform 1 138 catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) ACTCATGTTAAAATTCATGGA 0.378 36 74 --- --- --- --- PASS L1CAM 3897 broad.mit.edu 37 X 153137710 153137710 + Silent SNP G T T TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chrX:153137710G>T uc004fjb.2 - 4 405 c.297C>A c.(295-297)GGC>GGA p.G99G L1CAM_uc004fjc.2_Silent_p.G99G|L1CAM_uc010nuo.2_Silent_p.G94G|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc004fje.1_Silent_p.G94G NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 99 Extracellular (Potential).|Ig-like C2-type 1. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane ovary(8)|central_nervous_system(1) 9 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TGCTGTTGTTGCCCGTGATGG 0.592 25 36 --- --- --- --- PASS LTBP1 4052 broad.mit.edu 37 2 33590512 33590512 + Frame_Shift_Del DEL C - - TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr2:33590512delC uc002ros.2 + 31 4656 c.4656delC c.(4654-4656)TGCfs p.C1552fs LTBP1_uc002rot.2_Frame_Shift_Del_p.C1226fs|LTBP1_uc002rou.2_Frame_Shift_Del_p.C1225fs|LTBP1_uc002rov.2_Frame_Shift_Del_p.C1172fs|LTBP1_uc010ymz.1_Frame_Shift_Del_p.C1183fs|LTBP1_uc010yna.1_Frame_Shift_Del_p.C1130fs|LTBP1_uc010ynb.1_Frame_Shift_Del_p.C449fs NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1551 TB 4. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) CTGAGTGCTGCTGTCTGTATG 0.537 53 30 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57181591 57181591 + Frame_Shift_Del DEL C - - TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr4:57181591delC uc003hbk.2 + 8 2314 c.1923delC c.(1921-1923)GGCfs p.G641fs KIAA1211_uc010iha.2_Frame_Shift_Del_p.G634fs|KIAA1211_uc011bzz.1_Frame_Shift_Del_p.G551fs|KIAA1211_uc003hbm.1_Frame_Shift_Del_p.G527fs NM_020722 NP_065773 Q6ZU35 K1211_HUMAN hypothetical protein LOC57482 641 ovary(1)|skin(1) 2 Glioma(25;0.08)|all_neural(26;0.101) CTCCCCGAGGCCCCGGCGACG 0.672 10 17 --- --- --- --- GOLGA6B 55889 broad.mit.edu 37 15 72957311 72957313 + In_Frame_Del DEL GAG - - TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr15:72957311_72957313delGAG uc010uks.1 + 14 1569_1571 c.1528_1530delGAG c.(1528-1530)GAGdel p.E513del uc002aux.1_5'Flank|uc002auy.1_5'Flank NM_018652 NP_061122 A6NDN3 GOG6B_HUMAN golgi autoantigen, golgin subfamily a, 6B 513 Potential. 0 TCTGGACAGTGAGGAGGAGGAGG 0.635 4 2 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578443 7578444 + In_Frame_Ins INS - GAT GAT TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr17:7578443_7578444insGAT uc002gim.2 - 5 680_681 c.486_487insATC c.(484-489)insATC p.162_163insI TP53_uc002gig.1_In_Frame_Ins_p.162_163insI|TP53_uc002gih.2_In_Frame_Ins_p.162_163insI|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_In_Frame_Ins_p.30_31insI|TP53_uc010cng.1_In_Frame_Ins_p.30_31insI|TP53_uc002gii.1_In_Frame_Ins_p.30_31insI|TP53_uc010cnh.1_In_Frame_Ins_p.162_163insI|TP53_uc010cni.1_In_Frame_Ins_p.162_163insI|TP53_uc002gij.2_In_Frame_Ins_p.162_163insI|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_In_Frame_Ins_p.69_70insI|TP53_uc002gio.2_In_Frame_Ins_p.30_31insI|TP53_uc010vug.1_In_Frame_Ins_p.123_124insI NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 162_163 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> D (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.Y163N(17)|p.Y163H(17)|p.I162F(8)|p.0?(7)|p.I162V(5)|p.I162I(4)|p.I162S(4)|p.I162N(3)|p.I162M(3)|p.Y163fs*7(2)|p.R156_I162delRVRAMAI(2)|p.Y163D(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I162_Y163delIY(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.V157_I162delVRAMAI(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(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) GACTGCTTGTAGATGGCCATGG 0.624 111 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) 26 29 --- --- --- --- OR7A10 390892 broad.mit.edu 37 19 14951778 14951778 + Frame_Shift_Del DEL G - - TCGA-22-5485-01A-01D-1632-08 TCGA-22-5485-11A-01D-1632-08 Somatic Phase_I Capture Illumina GAIIx 448af8b4-e071-48b0-a65b-b4ad17afdc0c 95779034-450c-4511-91a7-40bacf8e2f78 g.chr19:14951778delG uc002mzx.1 - 1 912 c.912delC c.(910-912)TTCfs p.F304fs NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 304 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) TTCCTCTGAAGAATGTTTTCA 0.443 18 34 --- --- --- ---