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 pox qox isArtifactMode oxoGCut DVL1 1855 broad.mit.edu 37 1 1273500 1273500 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:1273500G>A uc001aer.3 - 14 1543 c.1496C>T c.(1495-1497)CCG>CTG p.P499L DVL1_uc002quu.2_Missense_Mutation_p.P241L|DVL1_uc009vka.2_Missense_Mutation_p.P182L|DVL1_uc001aeu.1_Missense_Mutation_p.P258L NM_004421 NP_004412 O14640 DVL1_HUMAN dishevelled 1 524 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GTGGGGCAGCGGGGCCAGCGT 0.721 NA 7 16 0 0 0 0 PTCHD2 57540 broad.mit.edu 37 1 11579445 11579445 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:11579445G>T uc001ash.3 + 8 2061 c.1923G>T c.(1921-1923)CTG>CTT p.L641L PTCHD2_uc001asi.1_Silent_p.L641L NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 641 Cytoplasmic (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) AGACCTCCCTGCACTTCCCCG 0.652 NA 55 159 7.07e-37 2.01e-36 1 0 EPHA2 1969 broad.mit.edu 37 1 16456829 16456829 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:16456829C>T uc001aya.1 - 15 2698 c.2561G>A c.(2560-2562)TGG>TAG p.W854* NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 854 Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.|Cytoplasmic (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) CTCCTGCTGCCAGCACTGCAT 0.612 NA 16 51 0 0 0 0 KIF17 57576 broad.mit.edu 37 1 21031314 21031314 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:21031314G>A uc001bdr.3 - 5 867 c.749C>T c.(748-750)ACC>ATC p.T250I KIF17_uc001bds.3_Missense_Mutation_p.T250I NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 250 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) CGTGGCCCCGGTCTTGGACTG 0.667 NA 11 78 0 0 0 0 ZBTB40 9923 broad.mit.edu 37 1 22816681 22816681 + Silent SNP G G A rs138737436 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:22816681G>A uc001bft.2 + 3 751 c.240G>A c.(238-240)ACG>ACA p.T80T ZBTB40_uc001bfu.2_Silent_p.T80T|ZBTB40_uc009vqi.1_Silent_p.T80T NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 80 BTB. bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TGATGTACACGGGCAAACTAC 0.463 NA 9 60 0 0 0 0 C1orf172 126695 broad.mit.edu 37 1 27277199 27277199 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:27277199C>A uc001bni.1 - 3 1177 c.1088G>T c.(1087-1089)CGG>CTG p.R363L NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 363 large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) CCTCAGCTTCCGGGCGATGGC 0.597 NA 33 120 5.72e-15 1.58e-14 1 0 NT5C1A 84618 broad.mit.edu 37 1 40131889 40131889 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:40131889A>G uc001cdq.1 - 2 155 c.155T>C c.(154-156)GTC>GCC p.V52A NM_032526 NP_115915 Q9BXI3 5NT1A_HUMAN 5'-nucleotidase, cytosolic IA 52 purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding ovary(1) 1 Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) AGCGATGGTGACTGCATTCTG 0.592 NA 7 36 0 0 0 0 EBNA1BP2 10969 broad.mit.edu 37 1 43630439 43630439 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:43630439C>A uc001cin.2 - 8 942 c.745G>T c.(745-747)GGT>TGT p.G249C EBNA1BP2_uc001cio.2_Missense_Mutation_p.G304C|EBNA1BP2_uc001cim.2_Missense_Mutation_p.G144C|EBNA1BP2_uc010ojx.1_Missense_Mutation_p.G304C NM_006824 NP_006815 Q99848 EBP2_HUMAN EBNA1 binding protein 2 isoform 2 249 ribosome biogenesis membrane fraction|nucleolus protein binding 0 Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CCACCAAAACCAAACTTCTGG 0.483 NA 19 60 1.16e-05 3.02e-05 1 0 ATP6V0B 533 broad.mit.edu 37 1 44441472 44441472 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:44441472G>T uc001cld.2 + 2 179 c.68G>T c.(67-69)GGA>GTA p.G23V ATP6V0B_uc001clc.2_Missense_Mutation_p.G23V|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR NM_004047 NP_004038 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 23 Helical; (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) ACTGCTGCAGGAGTCTGCTAC 0.552 NA 49 171 4.33e-36 1.23e-35 1 0 C1orf168 199920 broad.mit.edu 37 1 57209833 57209833 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:57209833C>T uc001cym.3 - 10 1900 c.1494G>A c.(1492-1494)AGG>AGA p.R498R C1orf168_uc009vzu.1_RNA|C1orf168_uc001cyl.2_RNA NM_001004303 NP_001004303 Q5VWT5 CA168_HUMAN hypothetical protein LOC199920 498 ovary(3)|skin(2) 5 ACACCTCTTTCCTGGAGTACT 0.408 NA 27 91 0 0 0 0 DOCK7 85440 broad.mit.edu 37 1 62960063 62960063 + Silent SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:62960063T>C uc001daq.2 - 40 5107 c.5073A>G c.(5071-5073)GAA>GAG p.E1691E DOCK7_uc001dan.2_Silent_p.E1552E|DOCK7_uc001dao.2_Silent_p.E1552E|DOCK7_uc001dap.2_Silent_p.E1669E|DOCK7_uc001dam.2_Silent_p.E871E|DOCK7_uc010oov.1_Silent_p.E430E NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 1700 DHR-2. activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation axon|basal part of cell|growth cone GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding ovary(2) 2 GATTGCTTCGTTCTGAGTGCT 0.478 NA 17 56 0 0 0 0 CTH 1491 broad.mit.edu 37 1 70900825 70900825 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:70900825G>C uc001dfd.2 + 10 1161 c.1017G>C c.(1015-1017)GAG>GAC p.E339D CTH_uc001dfe.2_Missense_Mutation_p.E295D|CTH_uc010oqq.1_Missense_Mutation_p.E307D NM_001902 NP_001893 P32929 CGL_HUMAN cystathionase isoform 1 339 Substrate. cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding lung(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CTCTGGCCGAGAGCTTGGGAG 0.289 NA 7 20 0 0 0 0 GBP5 115362 broad.mit.edu 37 1 89729518 89729518 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:89729518C>A uc001dnc.2 - 9 1800 c.1263G>T c.(1261-1263)AAG>AAT p.K421N GBP5_uc001dnd.2_Missense_Mutation_p.K421N|GBP5_uc001dne.1_Missense_Mutation_p.K421N NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 421 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) AAATTCCCTGCTTCACTGCTT 0.423 NA 54 150 1.86e-20 5.21e-20 1 0 HFM1 164045 broad.mit.edu 37 1 91845680 91845680 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:91845680C>A uc001doa.3 - 8 1087 c.987G>T c.(985-987)TTG>TTT p.L329F HFM1_uc010osu.1_Missense_Mutation_p.L8F|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.L329F NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 329 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TTTTAATATTCAACCATGGCA 0.284 NA 9 55 0.000274275 0.00069307 1 0 CELSR2 1952 broad.mit.edu 37 1 109812163 109812163 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:109812163G>A uc001dxa.3 + 21 6991 c.6930G>A c.(6928-6930)GAG>GAA p.E2310E NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 2310 Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GCCTGCTGGAGACAGAGGAGC 0.607 NA 16 73 0 0 0 0 KIAA0907 22889 broad.mit.edu 37 1 155903485 155903485 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:155903485T>C uc001fmi.1 - 2 218 c.194A>G c.(193-195)AAG>AGG p.K65R KIAA0907_uc001fmj.1_Missense_Mutation_p.K65R|KIAA0907_uc009wrk.1_Missense_Mutation_p.K65R|KIAA0907_uc009wrl.1_RNA|KIAA0907_uc001fml.1_Missense_Mutation_p.K65R|KIAA0907_uc001fmm.2_Missense_Mutation_p.K65R|KIAA0907_uc001fmo.2_Missense_Mutation_p.K65R NM_014949 NP_055764 Q7Z7F0 K0907_HUMAN hypothetical protein LOC22889 65 0 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;8.82e-06) GGCATTAATCTTGGCAGCCAC 0.542 NA 5 21 0 0 0 0 PRCC 5546 broad.mit.edu 37 1 156756531 156756531 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:156756531G>A uc001fqa.2 + 3 938 c.648G>A c.(646-648)AAG>AAA p.K216K PRCC_uc001fqb.2_Silent_p.K216K NM_005973 NP_005964 Q92733 PRCC_HUMAN papillary renal cell carcinoma 216 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) kidney(25)|central_nervous_system(2) 27 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CTGATACTAAGCCCTCCAGAC 0.562 NA T TFE3 papillary renal 19 74 0 0 0 0 LY9 4063 broad.mit.edu 37 1 160769734 160769734 + Nonsense_Mutation SNP C C T rs12049314 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:160769734C>T uc001fwu.2 + 2 366 c.316C>T c.(316-318)CGA>TGA p.R106* LY9_uc001fwt.2_Nonsense_Mutation_p.R106*|LY9_uc010pjs.1_Nonsense_Mutation_p.R106*|LY9_uc001fwv.2_Nonsense_Mutation_p.R106*|LY9_uc001fww.2_Nonsense_Mutation_p.R106*|LY9_uc001fwx.2_Nonsense_Mutation_p.R106*|LY9_uc001fwy.1_Nonsense_Mutation_p.R8* NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 106 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CTACCTGGGCCGACTAGACAT 0.448 NA 17 87 0 0 0 0 LAMC2 3918 broad.mit.edu 37 1 183177126 183177126 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:183177126C>A uc001gqa.2 + 2 504 c.190C>A c.(190-192)CAC>AAC p.H64N LAMC2_uc001gpz.3_Missense_Mutation_p.H64N|LAMC2_uc010poa.1_5'UTR NM_005562 NP_005553 Q13753 LAMC2_HUMAN laminin, gamma 2 isoform a precursor 64 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly heparin binding skin(2)|ovary(1) 3 TGATGGCATTCACTGCGAGAA 0.483 NA 100 254 4.71e-39 1.34e-38 1 0 KCNT2 343450 broad.mit.edu 37 1 196303052 196303052 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:196303052A>G uc001gtd.1 - 17 1982 c.1922T>C c.(1921-1923)ATT>ACT p.I641T KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Missense_Mutation_p.I591T|KCNT2_uc001gtf.1_Missense_Mutation_p.I641T|KCNT2_uc001gtg.1_RNA|KCNT2_uc009wyu.2_Missense_Mutation_p.I641T|KCNT2_uc001gth.1_Missense_Mutation_p.I162T NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 641 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 ACATGTTTGAATCGATGATGT 0.403 NA 14 42 0 0 0 0 CRB1 23418 broad.mit.edu 37 1 197390489 197390489 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:197390489G>A uc001gtz.2 + 6 1666 c.1531G>A c.(1531-1533)GCC>ACC p.A511T CRB1_uc010poz.1_Missense_Mutation_p.A442T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.A399T|CRB1_uc010ppb.1_Missense_Mutation_p.A511T|CRB1_uc010ppc.1_RNA|CRB1_uc010ppd.1_5'UTR|CRB1_uc001gub.1_Missense_Mutation_p.A160T NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 511 Extracellular (Potential).|Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 TTGTAACATAGCCCTCAGGTT 0.488 NA 30 61 0 0 0 0 PTPRC 5788 broad.mit.edu 37 1 198713291 198713291 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:198713291G>A uc001gur.1 + 26 2980 c.2800G>A c.(2800-2802)GAT>AAT p.D934N PTPRC_uc001gus.1_Missense_Mutation_p.D886N|PTPRC_uc001gut.1_Missense_Mutation_p.D773N NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 934 Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GAAGAAAAGGGATCCACCCAG 0.328 NA 6 20 0 0 0 0 GPR25 2848 broad.mit.edu 37 1 200842300 200842300 + Silent SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:200842300C>G uc001gvn.1 + 1 135 c.135C>G c.(133-135)CTC>CTG p.L45L NM_005298 NP_005289 O00155 GPR25_HUMAN G protein-coupled receptor 25 45 Helical; Name=1; (Potential). integral to plasma membrane ovary(1) 1 TCCCCGCGCTCTACCTGGCGG 0.592 NA 5 18 0 0 0 0 KIF21B 23046 broad.mit.edu 37 1 200954056 200954056 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:200954056C>T uc001gvs.1 - 27 4051 c.3734G>A c.(3733-3735)CGG>CAG p.R1245Q KIF21B_uc001gvr.1_Missense_Mutation_p.R1245Q|KIF21B_uc009wzl.1_Missense_Mutation_p.R1245Q|KIF21B_uc010ppn.1_Missense_Mutation_p.R1245Q NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 1245 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 ATTGCGGGGCCGAGTGGGAGG 0.627 NA 12 48 0 0 0 0 GPR37L1 9283 broad.mit.edu 37 1 202097163 202097163 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:202097163C>T uc001gxj.2 + 2 988 c.925C>T c.(925-927)CGC>TGC p.R309C NM_004767 NP_004758 O60883 ETBR2_HUMAN G-protein coupled receptor 37 like 1 precursor 309 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding ovary(1)|central_nervous_system(1) 2 CCAGAACGCCCGCATGTGGTG 0.612 NA 25 64 0 0 0 0 SLC45A3 85414 broad.mit.edu 37 1 205631061 205631061 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:205631061G>A uc001hda.1 - 4 1491 c.1152C>T c.(1150-1152)CTC>CTT p.L384L SLC45A3_uc010prn.1_Silent_p.L62L|SLC45A3_uc010pro.1_Silent_p.L218L|SLC45A3_uc010prp.1_Intron|ELK4_uc010prq.1_Intron NM_033102 NP_149093 Q96JT2 S45A3_HUMAN prostein 384 Helical; Name=10; (Potential). transmembrane transport integral to membrane SLC45A3/BRAF(2) ovary(2)|prostate(2) 4 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TGAACCCGGTGAGGGCGGCTG 0.622 NA T ETV1|ETV5|ELK4|ERG prostate 11 48 0 0 0 0 OBSCN 84033 broad.mit.edu 37 1 228468382 228468382 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:228468382C>T uc009xez.1 + 30 8126 c.8082C>T c.(8080-8082)TTC>TTT p.F2694F OBSCN_uc001hsn.2_Silent_p.F2694F|OBSCN_uc001hsp.1_Silent_p.F393F|OBSCN_uc001hsq.1_5'UTR NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 2694 Ig-like 26. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) AGTATGACTTCCTGCACACGG 0.682 NA 28 102 0 0 0 0 KIAA1804 84451 broad.mit.edu 37 1 233489592 233489592 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:233489592C>T uc001hvt.3 + 3 1287 c.1026C>T c.(1024-1026)GTC>GTT p.V342V KIAA1804_uc001hvs.1_Silent_p.V342V NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 342 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) CCGGAGAAGTCCCCTATCGGG 0.517 NA 18 57 0 0 0 0 OR2L2 26246 broad.mit.edu 37 1 248201622 248201622 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:248201622C>A uc001idw.2 + 1 149 c.53C>A c.(52-54)CCA>CAA p.P18Q OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGGCTGTTCCCACAATCAAGA 0.368 NA 43 135 1.38e-09 3.73e-09 1 0 MYO3A 53904 broad.mit.edu 37 10 26377303 26377303 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:26377303C>T uc001isn.2 + 15 1891 c.1531C>T c.(1531-1533)CTG>TTG p.L511L MYO3A_uc009xko.1_Silent_p.L511L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Silent_p.L511L NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 511 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 TGAATATCTCCTGGAAAAATC 0.343 NA 4 36 0 0 0 0 ITGB1 3688 broad.mit.edu 37 10 33199181 33199181 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:33199181C>T uc001iws.3 - 14 2270 c.2134G>A c.(2134-2136)GAG>AAG p.E712K ITGB1_uc001iwp.3_Missense_Mutation_p.E712K|ITGB1_uc001iwq.3_Missense_Mutation_p.E712K|ITGB1_uc001iwr.3_Missense_Mutation_p.E712K|ITGB1_uc001iwt.3_Missense_Mutation_p.E712K|ITGB1_uc001iwu.1_Missense_Mutation_p.E712K NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 712 Extracellular (Potential). axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) ACCATGACCTCGTTGTTCCCA 0.423 NA 4 30 0 0 0 0 ITGB1 3688 broad.mit.edu 37 10 33200509 33200509 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:33200509C>T uc001iws.3 - 13 1934 c.1798G>A c.(1798-1800)GAA>AAA p.E600K ITGB1_uc001iwp.3_Missense_Mutation_p.E600K|ITGB1_uc001iwq.3_Missense_Mutation_p.E600K|ITGB1_uc001iwr.3_Missense_Mutation_p.E600K|ITGB1_uc001iwt.3_Missense_Mutation_p.E600K|ITGB1_uc001iwu.1_Missense_Mutation_p.E600K NM_133376 NP_596867 P05556 ITB1_HUMAN integrin beta 1 isoform 1A precursor 600 Extracellular (Potential).|Cysteine-rich tandem repeats.|IV. axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma identical protein binding|protein heterodimerization activity|receptor activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(717;1.34e-05)|Breast(68;0.0634) TTGCTGGCTTCACAAGTACTA 0.493 NA 27 138 0 0 0 0 AGAP8 728404 broad.mit.edu 37 10 51225526 51225526 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:51225526G>C uc001jij.2 - 7 1582 c.1456C>G c.(1456-1458)CTT>GTT p.L486V PARG_uc001jih.2_Intron|PARG_uc001jif.2_Intron|PARG_uc001jig.2_Intron|PARG_uc010qgv.1_Intron|PARG_uc009xoi.2_Intron|PARG_uc010qgw.1_Intron|PARG_uc009xoj.2_Intron|PARG_uc010qgx.1_Intron|AGAP8_uc009xom.2_Missense_Mutation_p.L401V|AGAP8_uc001jik.2_Missense_Mutation_p.L470V|AGAP8_uc010qgy.1_Missense_Mutation_p.L509V|uc001jil.1_5'Flank NM_001077686 NP_001071154 Q5SRD3 AGAP8_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 486 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CGGGTGCCAAGACTGTGGTGG 0.522 NA 5 290 0 0 0 0 AGAP7 653268 broad.mit.edu 37 10 51465428 51465428 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:51465428T>C uc001jio.2 - 7 1154 c.1028A>G c.(1027-1029)GAC>GGC p.D343G PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 343 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 GGTGTCCATGTCCTTGGATAG 0.557 NA 48 221 0 0 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687810 68687810 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:68687810C>A uc001jmz.1 + 2 1686 c.1136C>A c.(1135-1137)ACG>AAG p.T379K CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Missense_Mutation_p.T379K NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 379 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 CCAAAGCCGACGTTTAAGCCC 0.577 NA 17 58 2e-07 5.36e-07 1 0 COL13A1 1305 broad.mit.edu 37 10 71631932 71631932 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:71631932C>T uc001jpr.1 + 3 901 c.365C>T c.(364-366)GCA>GTA p.A122V COL13A1_uc001jqj.1_Missense_Mutation_p.A122V|COL13A1_uc001jps.1_Missense_Mutation_p.A122V|COL13A1_uc001jpt.1_Missense_Mutation_p.A122V|COL13A1_uc001jpu.1_Missense_Mutation_p.A122V|COL13A1_uc001jpv.1_Missense_Mutation_p.A122V|COL13A1_uc001jpx.1_Missense_Mutation_p.A122V|COL13A1_uc001jpw.1_Missense_Mutation_p.A122V|COL13A1_uc001jpy.1_Intron|COL13A1_uc001jpz.1_Intron|COL13A1_uc001jqa.1_Intron|COL13A1_uc001jqc.1_Missense_Mutation_p.A122V|COL13A1_uc001jqb.1_Missense_Mutation_p.A122V|COL13A1_uc001jql.2_Intron|COL13A1_uc001jqd.1_Missense_Mutation_p.A122V|COL13A1_uc001jqe.1_Missense_Mutation_p.A122V|COL13A1_uc001jqf.1_Missense_Mutation_p.A122V|COL13A1_uc001jqg.1_Missense_Mutation_p.A122V|COL13A1_uc001jqh.1_Missense_Mutation_p.A122V|COL13A1_uc001jqi.1_Missense_Mutation_p.A122V|COL13A1_uc010qjf.1_Intron|COL13A1_uc001jqk.1_Intron NM_005203 NP_005194 Q5TAT6 CODA1_HUMAN alpha 1 type XIII collagen isoform 1 122 Extracellular (Potential).|Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding ovary(1) 1 Atorvastatin(DB01076)|Simvastatin(DB00641) CGTCACTCTTCATTTCAGGGT 0.348 NA 8 36 0 0 0 0 C10orf54 64115 broad.mit.edu 37 10 73515124 73515124 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:73515124G>C uc001jsd.2 - 4 809 c.668C>G c.(667-669)TCC>TGC p.S223C CDH23_uc001jrx.3_Intron|C10orf54_uc001jse.2_Missense_Mutation_p.S91C|C10orf54_uc009xqm.2_Missense_Mutation_p.S61C NM_022153 NP_071436 Q9H7M9 GI24_HUMAN platelet receptor Gi24 precursor 223 Cytoplasmic (Potential). integral to membrane receptor activity ovary(1)|breast(1)|central_nervous_system(1) 3 ACGGCGGTTGGAGGCTGCCTG 0.637 NA 7 18 0 0 0 0 CDH23 64072 broad.mit.edu 37 10 73537541 73537541 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:73537541C>T uc001jrx.3 + 37 5327 c.4950C>T c.(4948-4950)CTC>CTT p.L1650L NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1650 Cadherin 16.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 CAGACACGCTCAACACCAGCC 0.582 NA 13 38 0 0 0 0 CYP26C1 340665 broad.mit.edu 37 10 94828253 94828253 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:94828253G>A uc010qns.1 + 6 1368 c.1368G>A c.(1366-1368)GCG>GCA p.A456A CYP26C1_uc009xud.2_RNA NM_183374 NP_899230 Q6V0L0 CP26C_HUMAN cytochrome P450, family 26, subfamily C, 456 anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding central_nervous_system(1) 1 Colorectal(252;0.122) GCGGCGGTGCGCGCAGCTGCC 0.706 NA 5 24 0 0 0 0 ENTPD7 57089 broad.mit.edu 37 10 101458317 101458317 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:101458317G>A uc001kqa.3 + 10 1215 c.1037G>A c.(1036-1038)AGT>AAT p.S346N ENTPD7_uc009xwl.2_Missense_Mutation_p.S348N NM_020354 NP_065087 Q9NQZ7 ENTP7_HUMAN ectonucleoside triphosphate diphosphohydrolase 346 Vesicular (Potential). cytoplasmic vesicle membrane|integral to membrane hydrolase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;4.72e-10)|all cancers(201;3.75e-08) ACAGGTCTGAGTCCCGACAAT 0.448 NA 15 43 0 0 0 0 FAM178A 55719 broad.mit.edu 37 10 102676401 102676401 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:102676401G>C uc001krt.3 + 3 801 c.259G>C c.(259-261)GAG>CAG p.E87Q FAM178A_uc001krr.1_Missense_Mutation_p.E87Q|FAM178A_uc001krs.2_Missense_Mutation_p.E87Q|FAM178A_uc001kru.1_Missense_Mutation_p.E23Q NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 87 0 CACTGGGACAGAGCAGTTTGA 0.373 NA 10 26 0 0 0 0 HPS6 79803 broad.mit.edu 37 10 103826348 103826348 + Missense_Mutation SNP G G A rs140222296 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:103826348G>A uc001kuj.2 + 1 1202 c.1117G>A c.(1117-1119)GGG>AGG p.G373R NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 373 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) GGAGACCCGAGGGAATCTTCG 0.572 NA Hermansky-Pudlak_syndrome 11 60 0 0 0 0 GPAM 57678 broad.mit.edu 37 10 113933472 113933472 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr10:113933472G>A uc009xxy.1 - 7 743 c.545C>T c.(544-546)TCA>TTA p.S182L GPAM_uc001kzp.2_Missense_Mutation_p.S182L|GPAM_uc001kzq.1_Missense_Mutation_p.S182L NM_020918 NP_065969 Q9HCL2 GPAT1_HUMAN mitochondrial glycerol 3-phosphate 182 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity ovary(1)|skin(1) 2 Epithelial(162;0.0306)|all cancers(201;0.123) CATTGCCGGTGAGACAGTGGC 0.403 NA 19 47 0 0 0 0 BET1L 51272 broad.mit.edu 37 11 205338 205338 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:205338G>A uc001loe.2 - 4 401 c.300C>T c.(298-300)TTC>TTT p.F100F BET1L_uc001lod.2_3'UTR NM_001098787 NP_001092257 Q9NYM9 BET1L_HUMAN blocked early in transport 1 homolog (S. 100 Helical; Anchor for type IV membrane protein; (Potential). protein transport|retrograde transport, endosome to Golgi endosome|SNARE complex SNAP receptor activity 0 all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;4.2e-27)|Epithelial(43;2.8e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.7e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) AGGAGAGGATGAAGAAGGCCA 0.567 NA 9 28 0 0 0 0 STK33 65975 broad.mit.edu 37 11 8478907 8478907 + Silent SNP T T A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:8478907T>A uc001mgi.1 - 5 1597 c.678A>T c.(676-678)ATA>ATT p.I226I STK33_uc001mgj.1_Silent_p.I226I|STK33_uc001mgk.1_Silent_p.I226I|STK33_uc010rbn.1_Silent_p.I185I|STK33_uc001mgl.3_Silent_p.I39I|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 226 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) GAAGATATGCTATAGCTGATG 0.388 NA 12 39 0 0 0 0 PAMR1 25891 broad.mit.edu 37 11 35456112 35456112 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:35456112C>T uc001mwg.2 - 10 1617 c.1574G>A c.(1573-1575)GGG>GAG p.G525E PAMR1_uc001mwf.2_Missense_Mutation_p.G542E|PAMR1_uc010rew.1_Missense_Mutation_p.G414E|PAMR1_uc010rex.1_Missense_Mutation_p.G485E NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 525 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GTAGAATTTCCCCAAAACAAC 0.537 NA 23 107 0 0 0 0 F2 2147 broad.mit.edu 37 11 46747651 46747651 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:46747651G>A uc001ndf.3 + 7 845 c.802G>A c.(802-804)GAT>AAT p.D268N F2_uc001ndg.3_RNA NM_000506 NP_000497 P00734 THRB_HUMAN coagulation factor II preproprotein 268 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity ovary(3) 3 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) CCCAGACGGGGATGAGGAGGG 0.632 NA 21 121 0 0 0 0 OR5L2 26338 broad.mit.edu 37 11 55594959 55594959 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:55594959G>A uc001nhy.1 + 1 265 c.265G>A c.(265-267)GAC>AAC p.D89N NM_001004739 NP_001004739 Q8NGL0 OR5L2_HUMAN olfactory receptor, family 5, subfamily L, 89 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_epithelial(135;0.208) CTTTAACAAGGACAAAGCCAT 0.473 NA HNSCC(27;0.073) 53 68 0 0 0 0 OR5M8 219484 broad.mit.edu 37 11 56258161 56258161 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:56258161G>C uc001nix.1 - 1 686 c.686C>G c.(685-687)TCT>TGT p.S229C NM_001005282 NP_001005282 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, 229 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Esophageal squamous(21;0.00352) GCCCTCTGTAGAGCGAATCTT 0.413 NA 8 47 0 0 0 0 OR5M11 219487 broad.mit.edu 37 11 56309925 56309925 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:56309925G>T uc010rjl.1 - 1 809 c.809C>A c.(808-810)TCT>TAT p.S270Y NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, 270 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TATTATTTTAGATTCCTCAAC 0.408 NA 23 69 9.96e-16 2.76e-15 1 0 PRG3 10394 broad.mit.edu 37 11 57145249 57145249 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:57145249G>A uc001njv.1 - 5 678 c.568C>T c.(568-570)CCA>TCA p.P190S NM_006093 NP_006084 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 precursor 190 C-type lectin. basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding 0 GGTTGCCCTGGGGACCAGTAA 0.557 NA 12 34 0 0 0 0 DDB1 1642 broad.mit.edu 37 11 61084032 61084032 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:61084032C>T uc001nrc.3 - 11 1459 c.1233G>A c.(1231-1233)TGG>TGA p.W411* DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Nonsense_Mutation_p.W411*|DDB1_uc010rlg.1_RNA|DDB1_uc001nrd.2_Nonsense_Mutation_p.W411* NM_001923 NP_001914 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1 411 Interaction with CDT1.|Interaction with CUL4A. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding ovary(2)|lung(1)|central_nervous_system(1) 4 ACCGCAGTGGCCATAATCCTG 0.458 NA NER 29 104 0 0 0 0 FADS2 9415 broad.mit.edu 37 11 61632693 61632693 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:61632693G>T uc001nsl.1 + 11 1377 c.1227G>T c.(1225-1227)AAG>AAT p.K409N FADS2_uc001nsj.2_Missense_Mutation_p.K387N|FADS2_uc010rlo.1_Missense_Mutation_p.K378N NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 409 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) TATGTGCCAAGCATGGCATTG 0.612 NA 18 55 4.76e-15 1.31e-14 1 0 KAT5 10524 broad.mit.edu 37 11 65484420 65484420 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:65484420C>T uc001ofi.2 + 11 1382 c.1132C>T c.(1132-1134)CGC>TGC p.R378C KAT5_uc001ofj.2_Missense_Mutation_p.R326C|KAT5_uc001ofk.2_Missense_Mutation_p.R411C|KAT5_uc010roo.1_Missense_Mutation_p.R359C|KAT5_uc001ofl.2_Missense_Mutation_p.R167C NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 378 Acetyl-CoA binding. androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 TCCCTACCAGCGCCGGGGCTA 0.592 NA 28 85 0 0 0 0 CATSPER1 117144 broad.mit.edu 37 11 65788061 65788061 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:65788061G>A uc001ogt.2 - 7 2103 c.1965C>T c.(1963-1965)ATC>ATT p.I655I NM_053054 NP_444282 Q8NEC5 CTSR1_HUMAN sperm-associated cation channel 1 655 Helical; Name=Segment S6; (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding ovary(2) 2 ACTGGATGATGATGTAAATTA 0.597 NA 9 39 0 0 0 0 FAM86C 55199 broad.mit.edu 37 11 71500886 71500886 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:71500886C>A uc001oqv.3 + 2 180 c.154C>A c.(154-156)CAG>AAG p.Q52K FAM86C_uc009ysr.2_Missense_Mutation_p.Q52K|FAM86C_uc001oqw.3_Missense_Mutation_p.Q52K|FAM86C_uc009yss.2_RNA|FAM86C_uc010rqq.1_RNA NM_018172 NP_060642 Q9NVL1 FA86C_HUMAN hypothetical protein LOC55199 isoform 1 52 0 GGATATTTTGCAGAAGGTAAG 0.483 NA 20 72 6.45e-10 1.76e-09 1 0 C11orf87 399947 broad.mit.edu 37 11 109294892 109294892 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:109294892C>A uc001pkn.2 + 2 907 c.533C>A c.(532-534)GCA>GAA p.A178E C11orf87_uc010rwb.1_RNA NM_207645 NP_997528 Q6NUJ2 CK087_HUMAN hypothetical protein LOC399947 precursor 178 Cytoplasmic (Potential). integral to membrane ovary(2) 2 GGAGCACACGCAGCTTCCTCC 0.637 NA 21 34 4.35e-09 1.17e-08 1 0 APLP2 334 broad.mit.edu 37 11 130000002 130000002 + Missense_Mutation SNP C C T rs149975560 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr11:130000002C>T uc010sby.1 + 11 1682 c.1525C>T c.(1525-1527)CGT>TGT p.R509C APLP2_uc001qfp.2_Missense_Mutation_p.R509C|APLP2_uc001qfq.2_Missense_Mutation_p.R453C|APLP2_uc010sbz.1_Missense_Mutation_p.R297C|APLP2_uc001qfr.2_Missense_Mutation_p.R275C|APLP2_uc001qfs.2_Missense_Mutation_p.R280C|APLP2_uc001qfv.2_Missense_Mutation_p.R400C NM_001642 NP_001633 Q06481 APLP2_HUMAN amyloid beta (A4) precursor-like protein 2 509 Extracellular (Potential). G-protein coupled receptor protein signaling pathway integral to membrane|nucleus|plasma membrane DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity ovary(3) 3 all_hematologic(175;0.0429) Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24) ACATACCATCCGTCATTACCA 0.478 NA 24 113 0 0 0 0 A2ML1 144568 broad.mit.edu 37 12 9021141 9021141 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:9021141G>A uc001quz.3 + 32 4168 c.4070G>A c.(4069-4071)GGG>GAG p.G1357E A2ML1_uc001qva.1_Missense_Mutation_p.G937E|A2ML1_uc010sgm.1_Missense_Mutation_p.G857E|A2ML1_uc001qvb.1_RNA NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 1201 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 AGTTATGTGGGGAGCCGTAGC 0.388 NA 40 97 0 0 0 0 PRB3 5544 broad.mit.edu 37 12 11422583 11422583 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:11422583C>T uc001qzs.2 - 1 59 c.21G>A c.(19-21)TCG>TCA p.S7S PRB4_uc001qzf.1_Intron NM_006249 NP_006240 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 7 extracellular region Gram-negative bacterial cell surface binding skin(1) 1 OV - Ovarian serous cystadenocarcinoma(49;0.201) GCAGGGCCACCGACAGCAGAA 0.532 NA 18 69 0 0 0 0 LRP6 4040 broad.mit.edu 37 12 12318022 12318022 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:12318022G>A uc001rah.3 - 8 1895 c.1753C>T c.(1753-1755)CGA>TGA p.R585* BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Nonsense_Mutation_p.R585* NM_002336 NP_002327 O75581 LRP6_HUMAN low density lipoprotein receptor-related protein 585 Extracellular (Potential).|Beta-propeller 2. cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding lung(4)|skin(4)|ovary(2)|kidney(1)|central_nervous_system(1) 12 Prostate(47;0.0865) CCAATCACTCGATGAACATTT 0.423 NA 31 91 0 0 0 0 DENND5B 160518 broad.mit.edu 37 12 31605306 31605306 + Silent SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:31605306A>T uc001rki.1 - 5 1383 c.1197T>A c.(1195-1197)GTT>GTA p.V399V DENND5B_uc001rkh.1_Silent_p.V434V|DENND5B_uc009zjq.1_Silent_p.V318V|DENND5B_uc001rkj.2_Silent_p.V421V|DENND5B_uc001rkk.1_Silent_p.V321V NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 399 integral to membrane ovary(1)|central_nervous_system(1) 2 ATTGAACAAGAACCTCAGAGA 0.403 NA 17 66 0 0 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43777495 43777495 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:43777495G>A uc010skx.1 - 31 4663 c.4663C>T c.(4663-4665)CGA>TGA p.R1555* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1555 TSP type-1 13. proteinaceous extracellular matrix zinc ion binding p.R1555*(1) central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CACTCCATTCGTTGATGTGAA 0.343 NA 8 55 0 0 0 0 ARID2 196528 broad.mit.edu 37 12 46245639 46245639 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:46245639C>T uc001ros.1 + 15 3733 c.3733C>T c.(3733-3735)CAA>TAA p.Q1245* ARID2_uc001ror.2_Nonsense_Mutation_p.Q1245*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q701*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q872*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q579* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1245 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AATAATTTGCCAAAAGGAGGA 0.458 NA 14 57 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49420049 49420049 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:49420049C>T uc001rta.3 - 48 15700 c.15700G>A c.(15700-15702)GAG>AAG p.E5234K NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5234 FYR N-terminal. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 CCGTTGTTCTCACCAATAGAA 0.597 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 25 65 0 0 0 0 ACVR1B 91 broad.mit.edu 37 12 52369156 52369156 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:52369156C>T uc001rzn.2 + 2 241 c.199C>T c.(199-201)CGC>TGC p.R67C ACVR1B_uc001rzl.2_Missense_Mutation_p.R67C|ACVR1B_uc001rzm.2_Missense_Mutation_p.R67C|ACVR1B_uc010snn.1_Missense_Mutation_p.R67C NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 67 Extracellular (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GCACCATGTGCGCACCTGCAT 0.592 NA 18 46 0 0 0 0 HOXC11 3227 broad.mit.edu 37 12 54367367 54367367 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:54367367C>A uc001sem.2 + 1 458 c.342C>A c.(340-342)CTC>CTA p.L114L NM_014212 NP_055027 O43248 HXC11_HUMAN homeobox C11 114 endoderm development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCGAGATCCTCATGAAAAACG 0.637 NA T NUP98 AML 54 193 2.48e-22 6.94e-22 1 0 KIAA0748 9840 broad.mit.edu 37 12 55356756 55356756 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:55356756C>T uc001sgn.3 - 9 1036 c.926G>A c.(925-927)AGG>AAG p.R309K KIAA0748_uc001sgl.3_Missense_Mutation_p.R171K|KIAA0748_uc001sgm.3_Missense_Mutation_p.R56K|KIAA0748_uc010spb.1_Missense_Mutation_p.R56K|KIAA0748_uc010spc.1_Missense_Mutation_p.R171K|KIAA0748_uc010spd.1_Missense_Mutation_p.R309K|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 309 ovary(1)|central_nervous_system(1) 2 CAAACTGTTCCTTTTGGGGGT 0.532 NA 15 46 0 0 0 0 DPY19L2 283417 broad.mit.edu 37 12 63964555 63964555 + Nonsense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:63964555G>T uc001srp.1 - 20 2164 c.1983C>A c.(1981-1983)TAC>TAA p.Y661* DPY19L2_uc010sso.1_Nonsense_Mutation_p.Y108* NM_173812 NP_776173 Q6NUT2 D19L2_HUMAN dpy-19-like 2 661 multicellular organismal development|spermatid development integral to membrane central_nervous_system(1)|skin(1) 2 GBM - Glioblastoma multiforme(1;2.77e-05) GBM - Glioblastoma multiforme(28;0.044) CTGCATCTTCGTAATGTGGAT 0.388 NA 18 89 1.34e-09 3.62e-09 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72005625 72005625 + Silent SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:72005625C>G uc001swo.2 - 32 6029 c.5670G>C c.(5668-5670)CTG>CTC p.L1890L NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1890 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 CTTGAAGTTTCAGAATCTGAA 0.363 NA 12 45 0 0 0 0 ALX1 8092 broad.mit.edu 37 12 85695240 85695240 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:85695240C>T uc001tae.3 + 4 972 c.968C>T c.(967-969)TCA>TTA p.S323L NM_006982 NP_008913 Q15699 ALX1_HUMAN cartilage paired-class homeoprotein 1 323 brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(134;0.134) GCCAATATTTCATGGGCCATG 0.368 NA 16 50 0 0 0 0 ANKRD13A 88455 broad.mit.edu 37 12 110474131 110474131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:110474131G>C uc001tpx.2 + 14 1834 c.1575G>C c.(1573-1575)GAG>GAC p.E525D ANKRD13A_uc010sxw.1_Missense_Mutation_p.E524D|ANKRD13A_uc001tpy.2_Missense_Mutation_p.E125D|ANKRD13A_uc001tpz.2_Missense_Mutation_p.E163D|ANKRD13A_uc001tqa.2_3'UTR NM_033121 NP_149112 Q8IZ07 AN13A_HUMAN ankyrin repeat domain 13 525 UIM 1. 0 CCCAGTATGAGAGGTGATTGA 0.517 NA 28 105 0 0 0 0 KDM2B 84678 broad.mit.edu 37 12 121947475 121947475 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:121947475C>T uc001uat.2 - 11 1646 c.1542G>A c.(1540-1542)CTG>CTA p.L514L KDM2B_uc001uar.2_Silent_p.L105L|KDM2B_uc001uas.2_Silent_p.L483L|KDM2B_uc001uau.2_Silent_p.L397L|KDM2B_uc001uav.3_Silent_p.L424L NM_032590 NP_115979 Q8NHM5 KDM2B_HUMAN F-box and leucine-rich repeat protein 10 isoform 514 embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding ovary(1)|skin(1) 2 TCAGGCCCTTCAGTTCAAACT 0.597 NA 16 59 0 0 0 0 MMP17 4326 broad.mit.edu 37 12 132326314 132326314 + Silent SNP C C T rs73162905 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:132326314C>T uc001ujc.1 + 5 951 c.852C>T c.(850-852)TAC>TAT p.Y284Y MMP17_uc001ujd.1_Silent_p.Y200Y NM_016155 NP_057239 Q9ULZ9 MMP17_HUMAN matrix metalloproteinase 17 preproprotein 284 proteolysis anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05) GGCTCCCCTACGAGGACAAGG 0.662 NA 8 14 0 0 0 0 ULK1 8408 broad.mit.edu 37 12 132401500 132401500 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:132401500C>T uc001uje.2 + 21 2343 c.2075C>T c.(2074-2076)TCT>TTT p.S692F NM_003565 NP_003556 O75385 ULK1_HUMAN Unc-51-like kinase 1 692 autophagy|protein localization|regulation of autophagy autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex ATP binding|protein complex binding|protein serine/threonine kinase activity ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07) TCCCACAGGTCTTTCAGCACC 0.657 NA 5 44 0 0 0 0 KCTD4 386618 broad.mit.edu 37 13 45768657 45768657 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:45768657C>T uc001uzx.3 - 2 450 c.46G>A c.(46-48)GGG>AGG p.G16R GTF2F2_uc001uzv.2_Intron|GTF2F2_uc001uzw.2_Intron NM_198404 NP_940686 Q8WVF5 KCTD4_HUMAN potassium channel tetramerisation domain 16 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207) TTGTGTTTCCCTTCATACTCC 0.353 NA 40 121 0 0 0 0 CPB2 1361 broad.mit.edu 37 13 46632457 46632457 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:46632457C>G uc001vaw.2 - 9 923 c.856G>C c.(856-858)GAA>CAA p.E286Q uc001vau.1_Intron|uc001vav.1_Intron|CPB2_uc001vax.2_Missense_Mutation_p.E249Q NM_001872 NP_001863 Q96IY4 CBPB2_HUMAN plasma carboxypeptidase B2 isoform a 286 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ACTTCTGGTTCTGACTCAGGA 0.428 NA 16 91 0 0 0 0 CLDN10 9071 broad.mit.edu 37 13 96205036 96205036 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:96205036C>T uc001vmh.2 + 1 90 c.29C>T c.(28-30)GCC>GTC p.A10V CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron NM_006984 NP_008915 P78369 CLD10_HUMAN claudin 10 isoform b 10 Helical; (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity ovary(1) 1 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.18) GAGATCATCGCCTTCATGGTC 0.672 NA 13 18 0 0 0 0 PCK2 5106 broad.mit.edu 37 14 24566131 24566131 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:24566131C>A uc001wlt.2 + 2 192 c.60C>A c.(58-60)GGC>GGA p.G20G NRL_uc001wlp.2_5'Flank|NRL_uc001wlq.2_Intron|PCK2_uc001wlr.1_Silent_p.G32G|PCK2_uc001wls.2_Silent_p.G20G|PCK2_uc010tnw.1_Intron|PCK2_uc010ald.2_Translation_Start_Site|PCK2_uc010ale.2_Translation_Start_Site|PCK2_uc010tnx.1_Translation_Start_Site|PCK2_uc001wlu.3_Translation_Start_Site NM_004563 NP_004554 Q16822 PCKGM_HUMAN mitochondrial phosphoenolpyruvate carboxykinase 20 gluconeogenesis mitochondrial matrix GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity ovary(1) 1 GBM - Glioblastoma multiforme(265;0.0184) GCCCCTTGGGCTGGCCATCAT 0.567 NA 28 115 2.8e-10 7.63e-10 1 0 NFATC4 4776 broad.mit.edu 37 14 24845916 24845916 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:24845916C>T uc001wpc.2 + 9 2794 c.2473C>T c.(2473-2475)CCC>TCC p.P825S NFATC4_uc010tok.1_Missense_Mutation_p.P888S|NFATC4_uc010tol.1_Missense_Mutation_p.P888S|NFATC4_uc010alr.2_Intron|NFATC4_uc010tom.1_Missense_Mutation_p.P838S|NFATC4_uc010ton.1_Missense_Mutation_p.P838S|NFATC4_uc010too.1_Intron|NFATC4_uc010alt.2_Missense_Mutation_p.P857S|NFATC4_uc010top.1_Missense_Mutation_p.P857S|NFATC4_uc010toq.1_Intron|NFATC4_uc010tor.1_Intron|NFATC4_uc010tos.1_Missense_Mutation_p.P755S|NFATC4_uc010tot.1_Missense_Mutation_p.P813S|NFATC4_uc010tou.1_Missense_Mutation_p.P755S|NFATC4_uc010tov.1_Intron|NFATC4_uc010tow.1_Intron|NFATC4_uc010alv.2_Missense_Mutation_p.P813S|NFATC4_uc010tox.1_Missense_Mutation_p.P755S|NFATC4_uc001wpd.2_Missense_Mutation_p.P360S|NFATC4_uc010toy.1_Intron|NFATC4_uc010toz.1_Missense_Mutation_p.P360S|NFATC4_uc010tpa.1_Missense_Mutation_p.P113S|NFATC4_uc010tpb.1_Missense_Mutation_p.P113S NM_004554 NP_004545 Q14934 NFAC4_HUMAN nuclear factor of activated T-cells, 825 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(265;0.018) GCTTGAAGGCCCCTTCCCTTC 0.642 NA 40 181 0 0 0 0 NFKBIA 4792 broad.mit.edu 37 14 35872923 35872923 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:35872923G>A uc001wtf.3 - 2 419 c.309C>T c.(307-309)TTC>TTT p.F103F NFKBIA_uc001wte.3_Silent_p.F13F|NFKBIA_uc001wtg.3_Silent_p.F103F|NFKBIA_uc010amo.2_Intron NM_020529 NP_065390 P25963 IKBA_HUMAN nuclear factor of kappa light polypeptide gene 103 ANK 1. anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding breast(2) 2 Breast(36;0.0484)|Hepatocellular(127;0.158) Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891) GBM - Glioblastoma multiforme(112;0.0222) GGAAGTTGAGGAAGGCCAGGT 0.582 NA 6 28 0 0 0 0 FSCB 84075 broad.mit.edu 37 14 44975031 44975031 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:44975031G>A uc001wvn.2 - 1 1469 c.1160C>T c.(1159-1161)CCC>CTC p.P387L NM_032135 NP_115511 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 387 Pro-rich. cilium lung(3)|breast(3)|ovary(2)|central_nervous_system(1) 9 GBM - Glioblastoma multiforme(112;0.128) TTGTGCTGAGGGAGACCGAAT 0.527 NA 33 111 0 0 0 0 SLC8A3 6547 broad.mit.edu 37 14 70634140 70634140 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:70634140G>A uc001xly.2 - 2 1754 c.1000C>T c.(1000-1002)CAG>TAG p.Q334* SLC8A3_uc001xlw.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc001xlx.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc001xlz.2_Nonsense_Mutation_p.Q334*|SLC8A3_uc010ara.2_RNA NM_183002 NP_892114 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium 334 Cytoplasmic (Potential). cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding skin(3)|ovary(2)|breast(2) 7 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) TCCACCAGCTGATCTAAGTCC 0.522 NA 25 61 0 0 0 0 SERPINA4 5267 broad.mit.edu 37 14 95035800 95035800 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:95035800G>A uc001ydk.2 + 5 1218 c.1152G>A c.(1150-1152)GCG>GCA p.A384A SERPINA4_uc010avd.2_Silent_p.A421A|SERPINA4_uc001ydl.2_Silent_p.A384A NM_006215 NP_006206 P29622 KAIN_HUMAN serine (or cysteine) proteinase inhibitor, clade 384 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity ovary(3)|skin(1) 4 COAD - Colon adenocarcinoma(157;0.211) CCAGCTTCGCGATCAAATTCT 0.547 NA 24 52 0 0 0 0 KLC1 3831 broad.mit.edu 37 14 104142025 104142025 + Splice_Site SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:104142025G>A uc001yno.2 + 11 1620 c.1312_splice c.e11-1 p.G438_splice KLC1_uc010tyd.1_Splice_Site_p.G597_splice|KLC1_uc010tye.1_Splice_Site_p.G434_splice|KLC1_uc001ynm.1_Splice_Site_p.G438_splice|KLC1_uc001ynn.1_Splice_Site_p.G432_splice|KLC1_uc010tyf.1_Splice_Site_p.G438_splice|KLC1_uc001ynp.1_5'Flank|KLC1_uc001ynr.1_5'Flank|KLC1_uc010awu.1_5'Flank|KLC1_uc001ynq.1_5'Flank|KLC1_uc001yns.2_5'Flank NM_182923 NP_891553 Q07866 KLC1_HUMAN kinesin light chain 1 isoform 2 blood coagulation|microtubule-based movement|stress granule disassembly cytosol|kinesin complex|microtubule microtubule motor activity|protein binding 0 Melanoma(154;0.155)|all_epithelial(191;0.19) TTATAATTTAGGGAAAGCAAA 0.328 NA 9 39 0 0 0 0 PACS2 23241 broad.mit.edu 37 14 105843172 105843172 + Missense_Mutation SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr14:105843172A>T uc001yqt.2 + 9 1044 c.869A>T c.(868-870)TAT>TTT p.Y290F PACS2_uc001yqs.2_Missense_Mutation_p.Y215F|PACS2_uc001yqv.2_Missense_Mutation_p.Y290F|PACS2_uc001yqu.2_Missense_Mutation_p.Y290F NM_015197 NP_056012 Q86VP3 PACS2_HUMAN phosphofurin acidic cluster sorting protein 2 290 apoptosis|interspecies interaction between organisms endoplasmic reticulum lumen|mitochondrion pancreas(1) 1 all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036) Epithelial(152;0.138) GACCTCCTGTATGACACCCTG 0.667 NA 23 38 0 0 0 0 RYR3 6263 broad.mit.edu 37 15 34105687 34105687 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:34105687C>T uc001zhi.2 + 74 10479 c.10409C>T c.(10408-10410)TCC>TTC p.S3470F RYR3_uc010bar.2_Missense_Mutation_p.S3465F NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3470 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) CCTTTGAGGTCCAAGAAGGCC 0.532 NA 29 113 0 0 0 0 C15orf55 256646 broad.mit.edu 37 15 34649146 34649146 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:34649146G>A uc001zif.2 + 7 3008 c.2853G>A c.(2851-2853)GAG>GAA p.E951E C15orf55_uc010ucc.1_Silent_p.E979E|C15orf55_uc010ucd.1_Silent_p.E969E NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 951 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) CTTTACAAGAGAGTCAGGAGT 0.502 NA T BRD3|BRD4 lethal midline carcinoma 9 56 0 0 0 0 ACTC1 70 broad.mit.edu 37 15 35082673 35082673 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:35082673C>G uc001ziu.1 - 7 1317 c.1074G>C c.(1072-1074)TGG>TGC p.W358C uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN cardiac muscle alpha actin 1 proprotein 358 apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly actomyosin, actin part|cytosol|I band ATP binding|ATPase activity|myosin binding upper_aerodigestive_tract(1)|ovary(1) 2 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) GCTTGCTAATCCACATTTGCT 0.502 NA 41 91 0 0 0 0 MAP1A 4130 broad.mit.edu 37 15 43819190 43819190 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:43819190C>A uc001zrt.2 + 4 5986 c.5519C>A c.(5518-5520)GCT>GAT p.A1840D NM_002373 NP_002364 P78559 MAP1A_HUMAN microtubule-associated protein 1A 1840 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity ovary(3)|breast(3)|pancreas(2)|skin(1) 9 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TCATGGCTGGCTGACATCCCA 0.612 NA 21 56 1.87e-06 4.97e-06 1 0 CATSPER2 117155 broad.mit.edu 37 15 43927989 43927989 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:43927989C>T uc001zsh.2 - 9 1272 c.1057G>A c.(1057-1059)GAG>AAG p.E353K CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.E353K|CATSPER2_uc001zsj.2_Missense_Mutation_p.E353K NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 353 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) GCCATCTCCTCATTCAGCTCT 0.502 NA 16 43 0 0 0 0 UNC13C 440279 broad.mit.edu 37 15 54306178 54306178 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:54306178G>A uc002ack.2 + 1 1078 c.1078G>A c.(1078-1080)GCT>ACT p.A360T NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 360 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) AATTGAATTTGCTCAGAGGAT 0.378 NA 12 31 0 0 0 0 LARP6 55323 broad.mit.edu 37 15 71124454 71124454 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:71124454C>A uc002ass.2 - 3 1484 c.1413G>T c.(1411-1413)TTG>TTT p.L471F NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 471 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 GACCCCTGGGCAACCTCAGCA 0.547 NA 25 91 2.42e-17 6.72e-17 1 0 KIAA1199 57214 broad.mit.edu 37 15 81230170 81230170 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:81230170G>A uc002bfw.1 + 24 3517 c.3257G>A c.(3256-3258)CGA>CAA p.R1086Q KIAA1199_uc010unn.1_Missense_Mutation_p.R1086Q NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN KIAA1199 precursor 1086 upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TGCTACCCGCGAGGCACCACA 0.572 NA 37 91 0 0 0 0 TMC3 342125 broad.mit.edu 37 15 81648086 81648086 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:81648086C>G uc002bgo.1 - 9 915 c.915G>C c.(913-915)GAG>GAC p.E305D TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.E305D NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 305 Extracellular (Potential). integral to membrane ovary(1)|liver(1) 2 TTTTCTTTTTCTCCTGTTCTT 0.284 NA 14 44 0 0 0 0 ALDH1A3 220 broad.mit.edu 37 15 101447334 101447334 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:101447334G>T uc002bwn.3 + 11 1346 c.1242G>T c.(1240-1242)GGG>GGT p.G414G ALDH1A3_uc010bpb.2_Silent_p.G307G|uc002bwo.1_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 414 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) AGATTTTCGGGCCAGTGCAAC 0.398 NA 10 42 0.000442599 0.00111477 1 0 ALDH1A3 220 broad.mit.edu 37 15 101448628 101448628 + Silent SNP C C T rs145659258 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr15:101448628C>T uc002bwn.3 + 12 1511 c.1407C>T c.(1405-1407)AAC>AAT p.N469N ALDH1A3_uc010bpb.2_Silent_p.N362N|uc002bwo.1_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 469 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) ACTGCTACAACGCCCTCTATG 0.512 NA 10 37 0 0 0 0 STUB1 10273 broad.mit.edu 37 16 732456 732456 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:732456C>T uc002cit.2 + 7 1290 c.879C>T c.(877-879)TTC>TTT p.F293F STUB1_uc002ciu.2_Silent_p.F221F|STUB1_uc010bqz.2_RNA|STUB1_uc002civ.2_RNA|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002cix.1_3'UTR|JMJD8_uc002ciy.1_3'UTR NM_005861 NP_005852 Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1 293 U-box. cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity 0 Hepatocellular(780;0.00335) TTGACGCATTCATCTCTGAGA 0.607 NA 26 108 0 0 0 0 JMJD8 339123 broad.mit.edu 37 16 733066 733066 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:733066C>T uc002ciw.1 - 8 721 c.664G>A c.(664-666)GAG>AAG p.E222K JMJD8_uc002cix.1_Missense_Mutation_p.E222K|JMJD8_uc002ciy.1_Missense_Mutation_p.E192K NM_001005920 NP_001005920 Q96S16 JMJD8_HUMAN jumonji domain containing 8 271 JmjC. breast(1) 1 GGCGTCTTCTCAGGTGGGTAA 0.637 NA 28 89 0 0 0 0 TMEM159 57146 broad.mit.edu 37 16 21181823 21181823 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:21181823C>T uc002dif.3 + 3 523 c.162C>T c.(160-162)ACC>ACT p.T54T TMEM159_uc002dig.3_RNA|TMEM159_uc010vbf.1_Silent_p.T78T|TMEM159_uc002dih.3_Silent_p.T54T NM_020422 NP_065155 Q96B96 TM159_HUMAN transmembrane protein 159 54 integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(48;0.0972) TGGCCTTCACCTTGCTGGTGT 0.522 NA 38 124 0 0 0 0 ANKS4B 257629 broad.mit.edu 37 16 21262063 21262063 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:21262063G>A uc010bwp.1 + 2 1219 c.1176G>A c.(1174-1176)AGG>AGA p.R392R CRYM_uc010bwq.1_Intron NM_145865 NP_665872 Q8N8V4 ANS4B_HUMAN harmonin-interacting ankyrin-repeat containing 392 SAM. ovary(2) 2 GBM - Glioblastoma multiforme(48;0.0565) TGGGTCCCAGGAAGAAAGTTC 0.512 NA 26 99 0 0 0 0 ZNF48 197407 broad.mit.edu 37 16 30409298 30409298 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:30409298C>T uc002dya.1 + 2 786 c.727C>T c.(727-729)CGG>TGG p.R243W ZNF48_uc002dxz.1_Missense_Mutation_p.R120W NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCGGACACACCGGGGGGAGCA 0.647 NA 10 61 0 0 0 0 ZNF629 23361 broad.mit.edu 37 16 30793311 30793311 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:30793311G>A uc002dzs.1 - 3 2546 c.2338C>T c.(2338-2340)CGC>TGC p.R780C NM_001080417 NP_001073886 Q9UEG4 ZN629_HUMAN zinc finger protein 629 780 C2H2-type 18. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(24;0.198) AGGGCCACGCGGTCGAGGAAG 0.647 NA 44 145 0 0 0 0 SALL1 6299 broad.mit.edu 37 16 51171359 51171359 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:51171359G>A uc010vgs.1 - 3 3670 c.3639C>T c.(3637-3639)TTC>TTT p.F1213F SALL1_uc010vgr.1_Silent_p.F1116F|SALL1_uc010cbv.2_Silent_p.F65F NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 1213 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) ACATTTCTGGGAACTTGACGG 0.567 NA 13 48 0 0 0 0 TOX3 27324 broad.mit.edu 37 16 52484290 52484290 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:52484290C>T uc002egw.2 - 4 748 c.577G>A c.(577-579)GCC>ACC p.A193T TOX3_uc010vgt.1_Missense_Mutation_p.A188T|TOX3_uc010vgu.1_Missense_Mutation_p.A193T NM_001080430 NP_001073899 O15405 TOX3_HUMAN TOX high mobility group box family member 3 193 apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity 0 GGCATACTGGCACCTCCCAAA 0.567 NA 36 122 0 0 0 0 CDH3 1001 broad.mit.edu 37 16 68721545 68721545 + Silent SNP C C T rs140790125 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:68721545C>T uc002ewf.2 + 12 2833 c.1701C>T c.(1699-1701)ATC>ATT p.I567I CDH3_uc010vli.1_Silent_p.I512I NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 567 Cadherin 5.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGCTGAACATCACGGACAAGG 0.562 NA 25 70 0 0 0 0 MLKL 197259 broad.mit.edu 37 16 74719469 74719469 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:74719469C>G uc002fdb.2 - 5 1176 c.735G>C c.(733-735)CAG>CAC p.Q245H MLKL_uc002fdc.2_Intron NM_152649 NP_689862 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like isoform 1 245 Protein kinase. ATP binding|protein binding|protein kinase activity stomach(2) 2 TATTGAAAGTCTGCCTCACTA 0.313 NA 3 23 0 0 0 0 JPH3 57338 broad.mit.edu 37 16 87636924 87636924 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr16:87636924G>A uc002fkd.2 + 1 426 c.172G>A c.(172-174)GGC>AGC p.G58S JPH3_uc010vou.1_Intron NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN junctophilin 3 58 Gly-rich.|Cytoplasmic (Potential).|MORN 2. calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding ovary(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(80;0.0287) CTGGCCCAGCGGCAACACGTA 0.682 NA 9 27 0 0 0 0 ABR 29 broad.mit.edu 37 17 961286 961286 + Splice_Site SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:961286C>T uc002fsd.2 - 12 1416 c.1306_splice c.e12-1 p.S436_splice ABR_uc002fse.2_Splice_Site_p.S390_splice|ABR_uc010vqg.1_Splice_Site_p.S218_splice|ABR_uc002fsg.2_Splice_Site_p.S399_splice|ABR_uc002fsh.1_Intron NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) ACAGGTAACTCTGAAGAGAGG 0.463 NA 9 30 0 0 0 0 SMYD4 114826 broad.mit.edu 37 17 1704088 1704088 + Silent SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:1704088T>C uc002ftm.3 - 5 768 c.600A>G c.(598-600)GAA>GAG p.E200E SMYD4_uc002ftn.1_Silent_p.E55E NM_052928 NP_443160 Q8IYR2 SMYD4_HUMAN SET and MYND domain containing 4 200 zinc ion binding skin(3)|kidney(2) 5 GACTGTCCTTTTCTTGCATCT 0.498 NA 48 164 0 0 0 0 XAF1 54739 broad.mit.edu 37 17 6665481 6665481 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:6665481A>G uc002gdn.2 + 5 671 c.429A>G c.(427-429)AGA>AGG p.R143R XAF1_uc002gdm.1_Silent_p.R83R|XAF1_uc002gdo.2_Silent_p.R124R|XAF1_uc002gdp.2_Intron|XAF1_uc002gdq.2_5'UTR|XAF1_uc002gdr.2_Intron NM_017523 NP_059993 Q6GPH4 XAF1_HUMAN XIAP associated factor 1 isoform 1 143 apoptosis|type I interferon-mediated signaling pathway mitochondrion|nucleus zinc ion binding 0 CAGGGGAAAGAATTTCAGCTC 0.413 NA 9 21 0 0 0 0 TP53 7157 broad.mit.edu 37 17 7579533 7579533 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:7579533G>A uc002gim.2 - 4 348 c.154C>T c.(154-156)CAA>TAA p.Q52* TP53_uc002gig.1_Nonsense_Mutation_p.Q52*|TP53_uc002gih.2_Nonsense_Mutation_p.Q52*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Nonsense_Mutation_p.Q52*|TP53_uc010cni.1_Nonsense_Mutation_p.Q52*|TP53_uc002gij.2_Nonsense_Mutation_p.Q52*|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Nonsense_Mutation_p.Q13*|TP53_uc010cnk.1_Nonsense_Mutation_p.Q67* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 52 TADII.|Interaction with HRMT1L2. Q -> H (in a sporadic cancer; 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.0?(7)|p.Q52*(6)|p.Q52>P*(1)|p.Q52H(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(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) GTGAACCATTGTTCAATATCG 0.582 111 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) 67 183 0 0 0 0 MYH4 4622 broad.mit.edu 37 17 10348460 10348460 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:10348460C>A uc002gmn.2 - 37 5410 c.5299G>T c.(5299-5301)GCC>TCC p.A1767S uc002gml.1_Intron NM_017533 NP_060003 Q9Y623 MYH4_HUMAN myosin, heavy polypeptide 4, skeletal muscle 1767 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(10)|skin(2)|central_nervous_system(1) 13 GCCATCATGGCAGCCTAGTTA 0.473 NA 53 159 3.46e-24 9.73e-24 1 0 NCOR1 9611 broad.mit.edu 37 17 15964844 15964844 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:15964844C>G uc002gpo.2 - 37 5992 c.5752G>C c.(5752-5754)GAG>CAG p.E1918Q NCOR1_uc002gpn.2_Intron|NCOR1_uc002gpm.2_Missense_Mutation_p.E438Q|NCOR1_uc010vwb.1_Missense_Mutation_p.E502Q|NCOR1_uc010coy.2_Missense_Mutation_p.E826Q|NCOR1_uc010vwc.1_Missense_Mutation_p.E728Q NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 1918 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTCCTTAGCTCTTCCTCATAT 0.498 NA 59 192 0 0 0 0 RAI1 10743 broad.mit.edu 37 17 17700989 17700989 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:17700989G>A uc002grm.2 + 3 5196 c.4727G>A c.(4726-4728)CGC>CAC p.R1576H RAI1_uc002grn.1_Missense_Mutation_p.R1576H NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1576 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CCTGAAATCCGCCTCAAGTAC 0.637 NA 33 104 0 0 0 0 CPD 1362 broad.mit.edu 37 17 28706100 28706100 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:28706100C>G uc002hfb.1 + 1 117 c.102C>G c.(100-102)ATC>ATG p.I34M CPD_uc010wbo.1_5'Flank|CPD_uc010wbp.1_5'Flank NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 34 Extracellular (Potential).|Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 CGGCTCACATCAAGAAGGCGG 0.706 NA 3 5 0 0 0 0 NEUROD2 4761 broad.mit.edu 37 17 37761719 37761719 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:37761719C>A uc002hry.2 - 2 1334 c.1134G>T c.(1132-1134)GCG>GCT p.A378A NM_006160 NP_006151 Q15784 NDF2_HUMAN neurogenic differentiation 2 378 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) TATGAAAAAACGCATTGAGCT 0.612 NA 6 15 0.00198382 0.00495635 1 0 THRA 7067 broad.mit.edu 37 17 38245491 38245491 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:38245491G>C uc002htw.2 + 9 1498 c.1015G>C c.(1015-1017)GAG>CAG p.E339Q THRA_uc010cwp.1_Missense_Mutation_p.E339Q|THRA_uc002htv.2_Missense_Mutation_p.E339Q|THRA_uc002htx.2_Missense_Mutation_p.E339Q NM_003250 NP_003241 P10827 THA_HUMAN thyroid hormone receptor, alpha isoform 2 339 Ligand-binding. negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter cytosol|nucleoplasm protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding 0 Colorectal(19;0.000442) Myeloproliferative disorder(1115;0.0255) Levothyroxine(DB00451)|Liothyronine(DB00279) GGACAAGATCGAGAAGAGTCA 0.393 NA 23 116 0 0 0 0 PSME3 10197 broad.mit.edu 37 17 40986892 40986892 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:40986892G>A uc002ibr.2 + 4 468 c.242G>A c.(241-243)GGT>GAT p.G81D PSME3_uc002ibp.2_Missense_Mutation_p.G20D|PSME3_uc002ibq.2_Missense_Mutation_p.G81D|PSME3_uc002ibs.2_Missense_Mutation_p.G92D|PSME3_uc010whd.1_Missense_Mutation_p.V6I NM_005789 NP_005780 P61289 PSME3_HUMAN proteasome activator subunit 3 isoform 1 81 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome activator complex endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding 0 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) GGACTGGATGGTGTAAGTGTC 0.443 NA 14 50 0 0 0 0 AOC3 8639 broad.mit.edu 37 17 41006513 41006513 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:41006513C>A uc002ibv.2 + 2 1809 c.1649C>A c.(1648-1650)GCT>GAT p.A550D NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 550 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GTCCCCATGGCTGTGCCCTGG 0.662 NA 17 48 8.01e-06 2.09e-05 1 0 EMILIN2 84034 broad.mit.edu 37 18 2891362 2891362 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr18:2891362G>A uc002kln.2 + 4 1396 c.1237G>A c.(1237-1239)GAC>AAC p.D413N NM_032048 NP_114437 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 precursor 413 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding skin(2)|ovary(1) 3 READ - Rectum adenocarcinoma(2;0.1) CAAGACATTGGACCAGAAAAT 0.473 NA 9 45 0 0 0 0 WDR7 23335 broad.mit.edu 37 18 54423844 54423844 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr18:54423844C>T uc002lgk.1 + 15 2231 c.2020C>T c.(2020-2022)CTG>TTG p.L674L WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Silent_p.L674L NM_015285 NP_056100 Q9Y4E6 WDR7_HUMAN rabconnectin-3 beta isoform 1 674 ovary(2)|skin(1) 3 Lung(128;0.0238)|Colorectal(16;0.0296) TCATAACTCCCTGATGGTTCA 0.299 NA 16 64 0 0 0 0 PIAS4 51588 broad.mit.edu 37 19 4037462 4037462 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:4037462G>A uc002lzg.2 + 10 1243 c.1233G>A c.(1231-1233)AAG>AAA p.K411K NM_015897 NP_056981 Q8N2W9 PIAS4_HUMAN protein inhibitor of activated STAT, 4 411 positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|PML body DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding pancreas(1) 1 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) GCGCCGAAAAGGAGCGCAGCT 0.687 NA 8 31 0 0 0 0 TMEM146 257062 broad.mit.edu 37 19 5733907 5733907 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:5733907C>T uc002mda.2 + 5 378 c.317C>T c.(316-318)TCG>TTG p.S106L TMEM146_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN transmembrane protein 146 precursor 106 Extracellular (Potential). integral to membrane ovary(1)|central_nervous_system(1)|pancreas(1) 3 TTTGCTGGTTCGTTATTGCTG 0.313 NA 10 40 0 0 0 0 CD209 30835 broad.mit.edu 37 19 7809868 7809868 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:7809868C>T uc002mht.2 - 5 926 c.859G>A c.(859-861)GTG>ATG p.V287M CD209_uc010xju.1_Missense_Mutation_p.V126M|CD209_uc010dvp.2_Missense_Mutation_p.V263M|CD209_uc002mhr.2_Missense_Mutation_p.V263M|CD209_uc002mhs.2_Missense_Mutation_p.V217M|CD209_uc002mhu.2_Missense_Mutation_p.V195M|CD209_uc010dvq.2_Missense_Mutation_p.V287M|CD209_uc002mhq.2_Missense_Mutation_p.V287M|CD209_uc002mhv.2_Missense_Mutation_p.V263M|CD209_uc002mhx.2_Missense_Mutation_p.V243M|CD209_uc002mhw.2_Missense_Mutation_p.V151M|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN CD209 molecule isoform 1 287 Extracellular (Probable).|C-type lectin. 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 TGGGCCCCCACTTCTTTGCAG 0.587 NA 17 80 0 0 0 0 MUC16 94025 broad.mit.edu 37 19 9061995 9061995 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:9061995G>A uc002mkp.2 - 3 25655 c.25451C>T c.(25450-25452)TCC>TTC p.S8484F NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 8486 Ser-rich.|Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATAATGGGGGAAGTAGAAAG 0.488 NA 70 205 0 0 0 0 RAVER1 125950 broad.mit.edu 37 19 10444126 10444126 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:10444126C>T uc002moa.2 - 1 189 c.109G>A c.(109-111)GAA>AAA p.E37K NM_133452 NP_597709 Q8IY67 RAVR1_HUMAN RAVER1 20 cytoplasm|nucleus nucleotide binding|protein binding|RNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06) GCTTCGACTTCGGCCCCAGAC 0.692 NA 26 50 0 0 0 0 ZNF442 79973 broad.mit.edu 37 19 12474424 12474424 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:12474424C>G uc002mtr.1 - 3 633 c.22G>C c.(22-24)GAC>CAC p.D8H ZNF442_uc010xmk.1_Intron NM_030824 NP_110451 Q9H7R0 ZN442_HUMAN zinc finger protein 442 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|breast(1)|kidney(1) 4 TCACTTCTGTCTTCTCCCCCA 0.473 NA 22 99 0 0 0 0 ZNF799 90576 broad.mit.edu 37 19 12491594 12491594 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:12491594G>A uc002mts.3 - 4 948 c.482C>T c.(481-483)TCT>TTT p.S161F Q96GE5 ZN799_HUMAN Homo sapiens cDNA clone IMAGE:30340957, **** WARNING: chimeric clone ****. 267 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|ovary(2)|skin(1) 6 TCTTAGACAAGAACTGTAATC 0.388 NA 27 83 0 0 0 0 ZSWIM4 65249 broad.mit.edu 37 19 13928082 13928082 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:13928082G>A uc002mxh.1 + 7 1422 c.1233G>A c.(1231-1233)GGG>GGA p.G411G ZSWIM4_uc010xng.1_Silent_p.G334G NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 411 zinc ion binding central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) GATGGGTGGGGCACCCCCTGG 0.622 NA 29 72 0 0 0 0 MLL4 9757 broad.mit.edu 37 19 36228844 36228844 + Splice_Site SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:36228844G>C uc010eei.2 + 36 7742 c.7742_splice c.e36+1 p.R2581_splice NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GTGTCTACAGGTGAGTGGGGT 0.612 NA 7 10 0 0 0 0 FCGBP 8857 broad.mit.edu 37 19 40368526 40368526 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:40368526G>A uc002omp.3 - 28 12830 c.12822C>T c.(12820-12822)TAC>TAT p.Y4274Y NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 4274 VWFD 10. extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGGGCCCTCGTACTGCTCCA 0.657 NA 6 80 0 0 0 0 MAP3K10 4294 broad.mit.edu 37 19 40704316 40704316 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:40704316C>T uc002ona.2 + 2 1005 c.717C>T c.(715-717)CTC>CTT p.L239L MAP3K10_uc002onb.2_5'UTR NM_002446 NP_002437 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 239 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity ovary(2)|lung(2)|skin(1)|pancreas(1) 6 ACCACAACCTCGCAGACACGG 0.647 NA 14 44 0 0 0 0 AKT2 208 broad.mit.edu 37 19 40739814 40739814 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:40739814G>A uc002onf.2 - 14 1673 c.1411C>T c.(1411-1413)CCC>TCC p.P471S AKT2_uc010egs.2_Missense_Mutation_p.P428S|AKT2_uc010egt.2_Missense_Mutation_p.P409S|AKT2_uc010xvj.1_Missense_Mutation_p.P409S|AKT2_uc002one.2_Missense_Mutation_p.P367S NM_001626 NP_001617 P31751 AKT2_HUMAN AKT2 kinase 471 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity lung(2) 2 Lung(22;0.000499) GAGAACTGGGGGAAGTGGGTC 0.642 NA A ovarian|pancreatic 10 26 0 0 0 0 ZNF224 7767 broad.mit.edu 37 19 44611712 44611712 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:44611712C>T uc002oyh.1 + 6 1701 c.1399C>T c.(1399-1401)CGG>TGG p.R467W uc002oyi.2_RNA NM_013398 NP_037530 Q9NZL3 ZN224_HUMAN zinc finger protein 224 467 C2H2-type 11. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding ovary(2) 2 Prostate(69;0.0435) GAGCTTTAGTCGGGCCCCATG 0.438 NA 19 62 0 0 0 0 NOVA2 4858 broad.mit.edu 37 19 46443312 46443312 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:46443312C>T uc002pdv.2 - 4 1336 c.1288G>A c.(1288-1290)GTG>ATG p.V430M NM_002516 NP_002507 Q9UNW9 NOVA2_HUMAN neuro-oncological ventral antigen 2 430 KH 3. nucleus RNA binding 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00245)|GBM - Glioblastoma multiforme(486;0.0782)|Epithelial(262;0.179) TGGTACTCCACCAACGTCTTG 0.662 NA 43 124 0 0 0 0 AKT1S1 84335 broad.mit.edu 37 19 50374957 50374957 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:50374957C>T uc002pql.3 - 4 1200 c.474G>A c.(472-474)GAG>GAA p.E158E AKT1S1_uc002pqn.3_Silent_p.E158E|AKT1S1_uc002pqm.3_Silent_p.E158E NM_032375 NP_115751 Q96B36 AKTS1_HUMAN AKT1 substrate 1 (proline-rich) 158 negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression cytosolic part protein binding 0 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132) CGGGGGTCTCCTCGCTCAGGC 0.667 NA 26 72 0 0 0 0 SHANK1 50944 broad.mit.edu 37 19 51192464 51192464 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:51192464C>T uc002psx.1 - 15 2056 c.2037G>A c.(2035-2037)CGG>CGA p.R679R SHANK1_uc002psw.1_Silent_p.R63R NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 679 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CCTTGGCCCCCCGGAGCACGA 0.612 NA 11 94 0 0 0 0 TMC4 147798 broad.mit.edu 37 19 54664964 54664964 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:54664964G>A uc010erf.2 - 12 1870 c.1738C>T c.(1738-1740)CGC>TGC p.R580C LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Missense_Mutation_p.R294C|TMC4_uc002qdo.2_Missense_Mutation_p.R574C NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 580 Cytoplasmic (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CGGAAGGTGCGGGCAGCCGGG 0.562 NA 8 19 0 0 0 0 ZNF211 10520 broad.mit.edu 37 19 58152875 58152875 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:58152875T>C uc002qpq.2 + 3 1201 c.1021T>C c.(1021-1023)TAT>CAT p.Y341H ZNF211_uc010yhb.1_Missense_Mutation_p.Y345H|ZNF211_uc002qpp.2_Missense_Mutation_p.Y354H|ZNF211_uc002qpr.2_Missense_Mutation_p.Y405H|ZNF211_uc002qps.2_Missense_Mutation_p.Y406H|ZNF211_uc002qpt.2_Missense_Mutation_p.Y353H|ZNF211_uc010yhc.1_Missense_Mutation_p.Y353H|ZNF211_uc010yhd.1_Missense_Mutation_p.Y280H|ZNF211_uc010yhe.1_Missense_Mutation_p.Y332H NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 341 C2H2-type 5. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAAAGGCCTTATGAATGTGG 0.463 NA 17 56 0 0 0 0 NOL10 79954 broad.mit.edu 37 2 10729194 10729194 + Missense_Mutation SNP A A T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:10729194A>T uc002raq.2 - 19 1944 c.1819T>A c.(1819-1821)TCT>ACT p.S607T NOL10_uc010yje.1_Missense_Mutation_p.S581T|NOL10_uc010yjf.1_Missense_Mutation_p.S557T|NOL10_uc002rap.2_Missense_Mutation_p.S557T NM_024894 NP_079170 Q9BSC4 NOL10_HUMAN nucleolar protein 10 607 nucleolus 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207) TTTGTGGCAGAATCTTTGAAG 0.478 NA 65 80 0 0 0 0 HADHB 3032 broad.mit.edu 37 2 26500001 26500001 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:26500001A>G uc002rgz.2 + 7 666 c.415A>G c.(415-417)ATC>GTC p.I139V HADHB_uc010ykv.1_Missense_Mutation_p.I117V|HADHB_uc010ykw.1_Missense_Mutation_p.I124V|HADHB_uc002rha.2_Missense_Mutation_p.I139V|HADHB_uc010ykx.1_Missense_Mutation_p.I65V NM_000183 NP_000174 P55084 ECHB_HUMAN mitochondrial trifunctional protein, beta 139 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CATGGCTTGTATCTCTGCCAA 0.403 NA 14 19 0 0 0 0 SRD5A2 6716 broad.mit.edu 37 2 31805805 31805805 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:31805805G>T uc002rnw.1 - 2 237 c.166C>A c.(166-168)CAG>AAG p.Q56K NM_000348 NP_000339 P31213 S5A2_HUMAN 3-oxo-5 alpha-steroid 4-dehydrogenase 2 56 androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity 0 Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) GGCAGCTCCTGCAGGAACCAG 0.706 NA 22 13 1.18e-14 3.24e-14 1 0 MAP4K3 8491 broad.mit.edu 37 2 39494353 39494353 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:39494353T>C uc002rro.2 - 27 2100 c.2009A>G c.(2008-2010)AAA>AGA p.K670R MAP4K3_uc002rrp.2_Missense_Mutation_p.K649R|MAP4K3_uc010yns.1_Missense_Mutation_p.K223R NM_003618 NP_003609 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase 670 CNH. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(3)|lung(3)|stomach(1)|pancreas(1) 8 all_hematologic(82;0.211) CTGGCACCATTTGGTTTCAGG 0.313 NA 33 44 0 0 0 0 TET3 200424 broad.mit.edu 37 2 74328683 74328683 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:74328683G>A uc002skb.3 + 9 4363 c.4363G>A c.(4363-4365)GAG>AAG p.E1455K NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 1455 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GGGATCCAGCGAGAAGCTGTT 0.652 NA 6 15 0 0 0 0 FAM176A 84141 broad.mit.edu 37 2 75720729 75720729 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:75720729G>A uc002sni.2 - 4 570 c.92C>T c.(91-93)CCT>CTT p.P31L FAM176A_uc002snj.1_Missense_Mutation_p.P18L|FAM176A_uc002snk.1_Missense_Mutation_p.P31L NM_001135032 NP_001128504 Q9H8M9 F176A_HUMAN family with sequence similarity 176, member A 31 Necessary for the localization and biological activity. apoptosis|autophagy endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane 0 TGCTCGCTCAGGATTTTCTGG 0.517 NA 15 18 0 0 0 0 SULT1C3 442038 broad.mit.edu 37 2 108881304 108881304 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:108881304G>C uc010ywo.1 + 6 645 c.645G>C c.(643-645)AAG>AAC p.K215N NM_001008743 NP_001008743 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 215 PAPS. cytoplasm alcohol sulfotransferase activity skin(1) 1 AAATTGAGAAGATACTGAAGT 0.398 NA 6 29 0 0 0 0 NPHP1 4867 broad.mit.edu 37 2 110962526 110962526 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:110962526C>A uc002tfn.3 - 1 114 c.20G>T c.(19-21)CGA>CTA p.R7L NPHP1_uc002tfm.3_Missense_Mutation_p.R7L|NPHP1_uc002tfl.3_Missense_Mutation_p.R7L|NPHP1_uc002tfo.3_Missense_Mutation_p.R7L|NPHP1_uc010ywx.1_Missense_Mutation_p.R7L|NPHP1_uc010fjv.1_Missense_Mutation_p.R7L|NPHP1_uc002tfp.2_Missense_Mutation_p.R7L NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 7 Potential. actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 GAGAGGATCTCGCTGTCGTCT 0.662 NA 5 48 2.77e-08 7.46e-08 1 0 PLA2R1 22925 broad.mit.edu 37 2 160832579 160832579 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:160832579C>T uc002ube.1 - 17 2802 c.2595G>A c.(2593-2595)GCG>GCA p.A865A PLA2R1_uc010zcp.1_Silent_p.A865A|PLA2R1_uc002ubf.2_Silent_p.A865A NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 865 Extracellular (Potential).|C-type lectin 5. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 GTTCAAGTACCGCTTTTATTT 0.413 NA 26 43 0 0 0 0 UBR3 130507 broad.mit.edu 37 2 170917856 170917856 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:170917856C>T uc010zdi.1 + 35 4922 c.4922C>T c.(4921-4923)TCC>TTC p.S1641F UBR3_uc002ufr.3_RNA|UBR3_uc010fqa.2_Missense_Mutation_p.S462F|UBR3_uc002uft.3_Missense_Mutation_p.S498F|UBR3_uc010zdj.1_Missense_Mutation_p.S332F|UBR3_uc002ufu.3_Missense_Mutation_p.S147F NM_172070 NP_742067 Q6ZT12 UBR3_HUMAN E3 ubiquitin-protein ligase UBR3 1641 sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process integral to membrane ubiquitin-protein ligase activity|zinc ion binding 0 TCTCCTGAATCCATGGAAAAA 0.368 NA 45 77 0 0 0 0 MYO3B 140469 broad.mit.edu 37 2 171243774 171243774 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:171243774C>G uc002ufy.2 + 14 1676 c.1533C>G c.(1531-1533)ATC>ATG p.I511M MYO3B_uc002ufv.2_Missense_Mutation_p.I498M|MYO3B_uc010fqb.1_Missense_Mutation_p.I498M|MYO3B_uc002ufz.2_Missense_Mutation_p.I511M|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 511 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 GGGCAAGAATCTCTGAATATC 0.428 NA 23 64 0 0 0 0 MYO3B 140469 broad.mit.edu 37 2 171243784 171243784 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:171243784C>G uc002ufy.2 + 14 1686 c.1543C>G c.(1543-1545)CTC>GTC p.L515V MYO3B_uc002ufv.2_Missense_Mutation_p.L502V|MYO3B_uc010fqb.1_Missense_Mutation_p.L502V|MYO3B_uc002ufz.2_Missense_Mutation_p.L515V|MYO3B_uc002ufw.2_RNA|MYO3B_uc002ufx.2_RNA|MYO3B_uc002ugb.2_RNA NM_138995 NP_620482 Q8WXR4 MYO3B_HUMAN myosin IIIB isoform 2 515 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity lung(8)|ovary(6)|skin(4)|central_nervous_system(1) 19 CTCTGAATATCTCCTGGAAAA 0.413 NA 24 57 0 0 0 0 MAP2 4133 broad.mit.edu 37 2 210543343 210543343 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:210543343G>T uc002vde.1 + 5 558 c.310G>T c.(310-312)GCA>TCA p.A104S MAP2_uc002vdc.1_Missense_Mutation_p.A104S|MAP2_uc002vdd.1_Missense_Mutation_p.A104S|MAP2_uc002vdf.1_Missense_Mutation_p.A104S|MAP2_uc002vdg.1_Missense_Mutation_p.A104S|MAP2_uc002vdh.1_Missense_Mutation_p.A104S|MAP2_uc002vdi.1_Missense_Mutation_p.A104S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 104 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) TGAGGCTGTAGCAGTCCTGAA 0.413 NA 30 44 3.17e-13 8.69e-13 1 0 DGKD 8527 broad.mit.edu 37 2 234354353 234354353 + Nonsense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:234354353C>T uc002vui.1 + 11 1291 c.1279C>T c.(1279-1281)CAG>TAG p.Q427* DGKD_uc002vuj.1_Nonsense_Mutation_p.Q383*|DGKD_uc010fyh.1_Nonsense_Mutation_p.Q294*|DGKD_uc010fyi.1_RNA NM_152879 NP_690618 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa isoform 2 427 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|pancreas(1)|lung(1)|skin(1) 5 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) TGACGACACCCAGCTCCCCCA 0.607 NA 28 40 0 0 0 0 HDAC4 9759 broad.mit.edu 37 2 240036972 240036972 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:240036972G>A uc002vyk.3 - 13 2345 c.1553C>T c.(1552-1554)CCG>CTG p.P518L HDAC4_uc010fyz.1_Missense_Mutation_p.P513L|HDAC4_uc010zoa.1_Missense_Mutation_p.P518L|HDAC4_uc010fza.2_Missense_Mutation_p.P523L|HDAC4_uc010fyy.2_Missense_Mutation_p.P475L|HDAC4_uc010znz.1_Missense_Mutation_p.P401L NM_006037 NP_006028 P56524 HDAC4_HUMAN histone deacetylase 4 518 B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent histone deacetylase complex|transcriptional repressor complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding breast(3)|skin(2)|ovary(1) 6 all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159) Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04) GTGGCTCTCCGGCTGCCGGGC 0.652 NA 31 53 0 0 0 0 NSFL1C 55968 broad.mit.edu 37 20 1433208 1433208 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:1433208G>A uc002wfc.2 - 7 1663 c.715C>T c.(715-717)CGG>TGG p.R239W NSFL1C_uc002wfd.2_Missense_Mutation_p.R128W|NSFL1C_uc002wfe.2_Missense_Mutation_p.R208W|NSFL1C_uc002wff.2_RNA|NSFL1C_uc010gag.2_Missense_Mutation_p.R5W NM_016143 NP_057227 Q9UNZ2 NSF1C_HUMAN p47 protein isoform a 239 SEP. chromosome|Golgi stack|nucleus lipid binding|protein binding 0 TCCTCGTCCCGATGGTCCTCC 0.572 NA 55 144 0 0 0 0 SIRPA 140885 broad.mit.edu 37 20 1895762 1895762 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:1895762G>A uc002wfq.2 + 3 457 c.97G>A c.(97-99)GAG>AAG p.E33K SIRPA_uc010zps.1_Intron|SIRPA_uc002wfr.2_Missense_Mutation_p.E33K|SIRPA_uc002wfs.2_Missense_Mutation_p.E33K|SIRPA_uc002wft.2_Missense_Mutation_p.E33K NM_001040022 NP_001035111 P78324 SHPS1_HUMAN signal-regulatory protein alpha precursor 33 Ig-like V-type.|Extracellular (Potential). blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding ovary(1) 1 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGGTGAGGAGGAGCTGCAGGT 0.527 NA 11 15 0 0 0 0 CST1 1469 broad.mit.edu 37 20 23731395 23731395 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:23731395C>T uc002wtp.2 - 1 180 c.109G>A c.(109-111)GCA>ACA p.A37T NM_001898 NP_001889 P01037 CYTN_HUMAN cystatin SN precursor 37 extracellular region cysteine-type endopeptidase inhibitor activity ovary(1) 1 Lung NSC(19;0.0676)|all_lung(19;0.148) TTGAGGTCTGCGTTATAGATG 0.572 NA 10 50 0 0 0 0 C20orf152 140894 broad.mit.edu 37 20 34596243 34596243 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:34596243A>G uc002xes.1 + 9 1151 c.995A>G c.(994-996)AAG>AGG p.K332R C20orf152_uc002xer.1_Missense_Mutation_p.K332R|C20orf152_uc010gfp.1_RNA Q96M20 CT152_HUMAN SubName: Full=C20orf152 protein; 332 0 Breast(12;0.00631) GAAAGATTTAAGGAATTCCAG 0.408 NA 37 110 0 0 0 0 CHD6 84181 broad.mit.edu 37 20 40049688 40049688 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:40049688G>A uc002xka.1 - 31 5765 c.5587C>T c.(5587-5589)CAC>TAC p.H1863Y NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1863 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) tcatcACTGTGGTTCTGACTC 0.333 NA 20 72 0 0 0 0 C20orf165 128497 broad.mit.edu 37 20 44515635 44515635 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:44515635G>A uc002xqf.2 - 2 214 c.205C>T c.(205-207)CAA>TAA p.Q69* NM_080608 NP_542175 Q9BR10 CT165_HUMAN chromosome 20 open reading frame 165 69 integral to membrane 0 Myeloproliferative disorder(115;0.0122) CCCCTGGCTTGTGGCATTGCC 0.637 NA 45 170 0 0 0 0 GNAS 2778 broad.mit.edu 37 20 57429461 57429461 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:57429461C>G uc002xzw.2 + 1 1426 c.1141C>G c.(1141-1143)CCT>GCT p.P381A GNAS_uc002xzt.2_Intron|GNAS_uc002xzu.3_Intron|GNAS_uc010gjq.2_Intron|GNAS_uc002xzv.2_RNA NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas Error:Variant_position_missing_in_P63092_after_alignment activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GTACGGATCCCCTGCCGCCGG 0.682 NA Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) 3 5 0 0 0 0 SLC17A9 63910 broad.mit.edu 37 20 61598820 61598820 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:61598820G>A uc002yea.3 + 13 1463 c.1279G>A c.(1279-1281)GTG>ATG p.V427M SLC17A9_uc002ydz.3_Missense_Mutation_p.V421M|SLC17A9_uc011aap.1_3'UTR NM_022082 NP_071365 Q9BYT1 S17A9_HUMAN vesicular nucleotide transporter SLC17A9 427 exocytosis|transmembrane transport integral to membrane transporter activity ovary(1)|skin(1) 2 GGCTCAGAGGGTGGACCTGAG 0.617 NA 33 117 0 0 0 0 C20orf135 140701 broad.mit.edu 37 20 62493551 62493551 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:62493551G>A uc002ygx.1 + 1 986 c.658G>A c.(658-660)GCC>ACC p.A220T NM_080622 NP_542189 Q9H3Z7 ABHGB_HUMAN hypothetical protein LOC140701 220 hydrolase activity 0 all_cancers(38;1.77e-12)|all_epithelial(29;3.12e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09) TCAGCACGACGCCAACGCCAT 0.692 NA 12 20 0 0 0 0 LIPI 149998 broad.mit.edu 37 21 15561401 15561401 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:15561401G>T uc002yjm.2 - 2 459 c.449C>A c.(448-450)ACC>AAC p.T150N LIPI_uc010gkw.1_Missense_Mutation_p.T83N NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN lipase, member I 129 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity ovary(2) 2 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) AACTTTTCTGGTGTTTTTAAC 0.328 NA 9 61 7.48e-07 1.99e-06 1 0 RNF160 26046 broad.mit.edu 37 21 30318479 30318479 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:30318479G>A uc002ymr.2 - 20 3769 c.3756C>T c.(3754-3756)TTC>TTT p.F1252F NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1206 ligase activity|zinc ion binding 0 CCTACCAACTGAAAAGAAAAA 0.308 NA 17 98 0 0 0 0 SYNJ1 8867 broad.mit.edu 37 21 34011425 34011425 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr21:34011425G>A uc002yqh.2 - 31 3825 c.3825C>T c.(3823-3825)TTC>TTT p.F1275F SYNJ1_uc011ads.1_Silent_p.F1189F|SYNJ1_uc002yqf.2_Silent_p.F1220F|SYNJ1_uc002yqg.2_Silent_p.F1189F|SYNJ1_uc002yqi.2_Silent_p.F1275F|SYNJ1_uc002yqe.3_5'UTR NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 1236 Pro-rich. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 GTTCAGGAAGGAAAGTTGAAC 0.453 NA 22 88 0 0 0 0 AIFM3 150209 broad.mit.edu 37 22 21332000 21332000 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr22:21332000G>A uc002ztj.2 + 15 1512 c.1294G>A c.(1294-1296)GCC>ACC p.A432T AIFM3_uc002ztk.2_Missense_Mutation_p.A432T|AIFM3_uc002ztl.2_Missense_Mutation_p.A438T|AIFM3_uc011ahx.1_Missense_Mutation_p.A420T|AIFM3_uc002ztm.1_Missense_Mutation_p.A244T|LZTR1_uc002ztn.2_5'Flank NM_144704 NP_653305 Q96NN9 AIFM3_HUMAN apoptosis-inducing factor, 432 activation of caspase activity by cytochrome c|cell redox homeostasis|electron transport chain|induction of apoptosis|mitochondrial depolarization|transport endoplasmic reticulum|mitochondrial inner membrane 2 iron, 2 sulfur cluster binding|caspase activator activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity|protein binding ovary(2)|lung(2) 4 all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0367) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TGCAGTGCCCGCCACAGGCTT 0.617 NA 25 53 0 0 0 0 KCNJ4 3761 broad.mit.edu 37 22 38823608 38823608 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr22:38823608C>T uc003avs.1 - 2 627 c.530G>A c.(529-531)CGG>CAG p.R177Q KCNJ4_uc003avt.1_Missense_Mutation_p.R177Q NM_004981 NP_004972 P48050 IRK4_HUMAN potassium inwardly-rectifying channel J4 177 Cytoplasmic (By similarity). synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding 0 Melanoma(58;0.0286) CTTCTTGGGCCGCGCCATCTT 0.642 NA 8 51 0 0 0 0 TGFBR2 7048 broad.mit.edu 37 3 30713559 30713559 + Nonsense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:30713559C>G uc003ceo.2 + 4 1266 c.884C>G c.(883-885)TCA>TGA p.S295* TGFBR2_uc003cen.2_Nonsense_Mutation_p.S320* NM_003242 NP_003233 P37173 TGFR2_HUMAN transforming growth factor, beta receptor II 295 Protein kinase.|Cytoplasmic (Potential). activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis caveola|external side of plasma membrane ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1) 26 GACATCTTCTCAGACATCAAT 0.493 NA 24 55 0 0 0 0 IGSF10 285313 broad.mit.edu 37 3 151154847 151154847 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:151154847C>G uc011bod.1 - 6 7502 c.7502G>C c.(7501-7503)AGA>ACA p.R2501T IGSF10_uc011bob.1_Missense_Mutation_p.R528T|IGSF10_uc011boc.1_Missense_Mutation_p.R480T NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 precursor 2501 Ig-like C2-type 11. cell differentiation|multicellular organismal development|ossification extracellular region skin(7)|ovary(5)|central_nervous_system(1) 13 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATAGTTTCCTCTGTCATAAGC 0.393 NA 40 142 0 0 0 0 SMC4 10051 broad.mit.edu 37 3 160135570 160135570 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr3:160135570G>A uc003fdh.2 + 11 1610 c.1497G>A c.(1495-1497)ATG>ATA p.M499I IFT80_uc003fda.2_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.M263I|SMC4_uc003fdi.2_Missense_Mutation_p.M474I|SMC4_uc003fdj.2_Missense_Mutation_p.M499I|SMC4_uc010hwd.2_Missense_Mutation_p.M499I|SMC4_uc003fdl.2_Missense_Mutation_p.M202I NM_001002800 NP_001002800 Q9NTJ3 SMC4_HUMAN SMC4 structural maintenance of chromosomes 499 Potential. cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity ovary(1)|breast(1) 2 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) GTTCAAAGATGGATGTAGCCC 0.378 NA 19 79 0 0 0 0 TLR6 10333 broad.mit.edu 37 4 38828928 38828928 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:38828928G>C uc003gtm.2 - 1 2233 c.2167C>G c.(2167-2169)CTC>GTC p.L723V TLR6_uc010ifg.1_Missense_Mutation_p.L723V NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 723 TIR.|Cytoplasmic (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 TCATGAAAGAGATTGTGATGG 0.423 NA 54 132 0 0 0 0 GABRA4 2557 broad.mit.edu 37 4 46930480 46930480 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:46930480C>T uc003gxg.2 - 9 1566 c.1427G>A c.(1426-1428)CGT>CAT p.R476H NM_000809 NP_000800 P48169 GBRA4_HUMAN gamma-aminobutyric acid A receptor, alpha 4 476 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|upper_aerodigestive_tract(1)|breast(1) 4 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) AAACACGTGACGAGTAGAAGC 0.483 NA 25 84 0 0 0 0 CEP135 9662 broad.mit.edu 37 4 56820513 56820513 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:56820513C>G uc003hbi.2 + 4 670 c.436C>G c.(436-438)CAA>GAA p.Q146E CEP135_uc003hbh.1_Missense_Mutation_p.Q146E|CEP135_uc010igz.1_5'UTR NM_025009 NP_079285 Q66GS9 CP135_HUMAN centrosome protein 4 146 Potential. centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle centriole|cytosol protein C-terminus binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 Glioma(25;0.08)|all_neural(26;0.101) TCAACAACTTCAAGAAAAGAA 0.323 NA 21 48 0 0 0 0 LRIT3 345193 broad.mit.edu 37 4 110790844 110790844 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:110790844G>A uc003hzx.3 + 3 997 c.804G>A c.(802-804)ATG>ATA p.M268I LRIT3_uc003hzw.3_Missense_Mutation_p.M130I NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 268 Ig-like. integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) GGTCCATAATGAGCTTGACAG 0.423 NA 23 116 0 0 0 0 TRIML1 339976 broad.mit.edu 37 4 189068147 189068147 + Missense_Mutation SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:189068147G>T uc003izm.1 + 6 1143 c.1028G>T c.(1027-1029)TGG>TTG p.W343L TRIML1_uc003izn.1_Missense_Mutation_p.W67L NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 343 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AGACACTACTGGGAGGTGGAG 0.567 NA 14 85 0.000151284 0.00038798 1 0 PDZD2 23037 broad.mit.edu 37 5 32088220 32088220 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:32088220G>A uc003jhl.2 + 20 5054 c.4666G>A c.(4666-4668)GAG>AAG p.E1556K PDZD2_uc003jhm.2_Missense_Mutation_p.E1556K NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 1556 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 TGGCGATGCTGAGGATTCTTC 0.542 NA 28 64 0 0 0 0 OSMR 9180 broad.mit.edu 37 5 38933124 38933124 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:38933124C>T uc003jln.1 + 18 2885 c.2518C>T c.(2518-2520)CTC>TTC p.L840F OSMR_uc011cpj.1_Missense_Mutation_p.L44F NM_003999 NP_003990 Q99650 OSMR_HUMAN oncostatin M receptor precursor 840 Cytoplasmic (Potential). cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 all_lung(31;0.000365) CTACCTTTATCTCCTTCCAAC 0.468 NA 37 137 0 0 0 0 PDE8B 8622 broad.mit.edu 37 5 76645309 76645309 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:76645309C>T uc003kfa.2 + 8 987 c.942C>T c.(940-942)CTC>CTT p.L314L PDE8B_uc003kfb.2_Silent_p.L294L|PDE8B_uc003kfc.2_Silent_p.L314L|PDE8B_uc003kfd.2_Intron|PDE8B_uc003kfe.2_Intron NM_003719 NP_003710 O95263 PDE8B_HUMAN phosphodiesterase 8B isoform 1 314 PAS. cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity 0 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) GAAAAGAACTCGCTGATCTGC 0.502 NA 22 68 0 0 0 0 IRF1 3659 broad.mit.edu 37 5 131819732 131819732 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131819732C>T uc003kxa.2 - 10 1123 c.889G>A c.(889-891)GAT>AAT p.D297N C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D297N NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 297 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) TTCTTCAGATCTGTGAAGACA 0.582 NA 18 77 0 0 0 0 IRF1 3659 broad.mit.edu 37 5 131820066 131820066 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131820066C>G uc003kxa.2 - 9 1075 c.841G>C c.(841-843)GAC>CAC p.D281H C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D281H NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 281 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCTGGGCTGTCAATTTCTGGC 0.552 NA 19 99 0 0 0 0 IRF1 3659 broad.mit.edu 37 5 131820143 131820143 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131820143C>T uc003kxa.2 - 9 998 c.764G>A c.(763-765)GGG>GAG p.G255E C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.G255E NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 255 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) GAGTAGGTACCCCTTCCCATC 0.552 NA 22 141 0 0 0 0 IRF1 3659 broad.mit.edu 37 5 131820153 131820153 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:131820153C>T uc003kxa.2 - 9 988 c.754G>A c.(754-756)GAT>AAT p.D252N C5orf56_uc010jds.1_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.D252N NM_002198 NP_002189 P10914 IRF1_HUMAN interferon regulatory factor 1 252 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm 0 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CCCTTCCCATCCACGTTTGTT 0.567 NA 23 146 0 0 0 0 PCDH12 51294 broad.mit.edu 37 5 141335106 141335106 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:141335106G>A uc003llx.2 - 1 3522 c.2311C>T c.(2311-2313)CAG>TAG p.Q771* NM_016580 NP_057664 Q9NPG4 PCD12_HUMAN protocadherin 12 precursor 771 Cytoplasmic (Potential). neuron recognition integral to plasma membrane calcium ion binding ovary(3) 3 all_hematologic(541;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGCCTTCTGAATGTGTTTC 0.587 NA 11 62 0 0 0 0 C5orf4 10826 broad.mit.edu 37 5 154214195 154214195 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:154214195G>A uc003lvs.3 - 4 405 c.234C>T c.(232-234)CTC>CTT p.L78L C5orf4_uc011dde.1_Silent_p.L55L NM_032385 NP_115761 Q96IV6 CE004_HUMAN hypothetical protein LOC10826 78 Helical; (Potential). fatty acid biosynthetic process integral to membrane iron ion binding|oxidoreductase activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CTATAAAGAAGAGGATCCACT 0.453 NA 13 40 0 0 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805750 169805750 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:169805750C>T uc003maq.1 - 4 934 c.534G>A c.(532-534)GTG>GTA p.V178V KCNIP1_uc003map.2_Intron NM_004137 NP_004128 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated 178 Helical; Name=2; (Potential). platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity ovary(2) 2 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) GGTTGCTCTTCACCATGGCGA 0.627 NA 21 82 0 0 0 0 UNC5A 90249 broad.mit.edu 37 5 176306459 176306459 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:176306459G>A uc003mey.2 + 14 2525 c.2333G>A c.(2332-2334)CGG>CAG p.R778Q NM_133369 NP_588610 Q6ZN44 UNC5A_HUMAN netrin receptor Unc5h1 precursor 778 Death.|Cytoplasmic (Potential). apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane skin(1) 1 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCCGACTGGCGGACTCTGGCC 0.677 NA 28 118 0 0 0 0 MXD3 83463 broad.mit.edu 37 5 176734658 176734658 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr5:176734658G>A uc003mgb.2 - 6 1013 c.552C>T c.(550-552)GCC>GCT p.A184A MXD3_uc010jkk.2_Intron|MXD3_uc003mga.3_Missense_Mutation_p.P210L|MXD3_uc003mgc.2_Silent_p.A174A NM_031300 NP_112590 Q9BW11 MAD3_HUMAN MAX dimerization protein 3 isoform a 184 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCAGCAGCTCGGCCTCACCCC 0.701 NA 18 59 0 0 0 0 BTN2A2 10385 broad.mit.edu 37 6 26388333 26388333 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:26388333C>T uc003nhq.2 + 4 621 c.535C>T c.(535-537)CTC>TTC p.L179F BTN2A2_uc011dkf.1_Missense_Mutation_p.L63F|BTN2A2_uc011dkg.1_Intron|BTN2A2_uc003nhr.2_Missense_Mutation_p.L63F|BTN2A2_uc011dkh.1_Intron|BTN2A2_uc003nhs.2_Missense_Mutation_p.L179F|BTN2A2_uc003nht.2_Missense_Mutation_p.L179F|BTN2A2_uc011dki.1_5'Flank NM_006995 NP_008926 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 isoform a 179 Extracellular (Potential).|Ig-like C2-type. negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane 0 CCCAGAGCCCCTCACAGTGTG 0.582 NA 16 60 0 0 0 0 ZNF391 346157 broad.mit.edu 37 6 27368900 27368900 + Missense_Mutation SNP T T C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:27368900T>C uc003njf.1 + 3 1269 c.751T>C c.(751-753)TGC>CGC p.C251R NM_001076781 NP_001070249 Q9UJN7 ZN391_HUMAN zinc finger protein 391 251 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(2)|skin(1) 3 TCCCTATGAATGCAGTAAATG 0.438 NA 4 30 0 0 0 0 SCAND3 114821 broad.mit.edu 37 6 28540086 28540086 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:28540086G>A uc003nlo.2 - 4 4198 c.3580C>T c.(3580-3582)CCA>TCA p.P1194S NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1194 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 tcttttgatggaaaataaaat 0 NA 4 20 0 0 0 0 RXRB 6257 broad.mit.edu 37 6 33164363 33164363 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:33164363G>A uc003odb.2 - 5 1020 c.841C>T c.(841-843)CGG>TGG p.R281W RXRB_uc003odc.2_Missense_Mutation_p.R281W|RXRB_uc003odd.2_Missense_Mutation_p.R185W|RXRB_uc011dqr.1_Missense_Mutation_p.R91W|RXRB_uc011dqs.1_Missense_Mutation_p.R164W|RXRB_uc003ode.1_Missense_Mutation_p.R145W|RXRB_uc011dqt.1_Missense_Mutation_p.R281W|RXRB_uc011dqu.1_Missense_Mutation_p.R185W NM_021976 NP_068811 P28702 RXRB_HUMAN retinoid X receptor, beta 281 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding ovary(3) 3 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCCTTTCCCCGCTGACGCTCC 0.602 NA 11 67 0 0 0 0 PACSIN1 29993 broad.mit.edu 37 6 34496436 34496436 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:34496436C>T uc003ojo.2 + 4 444 c.238C>T c.(238-240)CTG>TTG p.L80L PACSIN1_uc003ojp.2_Silent_p.L80L NM_020804 NP_065855 Q9BY11 PACN1_HUMAN protein kinase C and casein kinase substrate in 80 endocytosis protein kinase activity 0 GTATGGCAGCCTGGAGCGGGC 0.527 NA 37 131 0 0 0 0 SPDEF 25803 broad.mit.edu 37 6 34507170 34507170 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:34507170G>A uc003ojq.1 - 5 1101 c.686C>T c.(685-687)TCG>TTG p.S229L SPDEF_uc011dsq.1_Missense_Mutation_p.S213L NM_012391 NP_036523 O95238 SPDEF_HUMAN SAM pointed domain containing ets transcription 229 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S229L(1) skin(3)|ovary(1)|central_nervous_system(1) 5 CTCACTGGTCGAGGCTGGGTG 0.667 NA 22 109 0 0 0 0 ENPP4 22875 broad.mit.edu 37 6 46108043 46108043 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:46108043C>T uc003oxy.2 + 2 982 c.723C>T c.(721-723)ACC>ACT p.T241T NM_014936 NP_055751 Q9Y6X5 ENPP4_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 241 Extracellular (Potential). integral to membrane hydrolase activity ovary(3)|skin(1) 4 ATGGGATGACCCAGTGTTCTC 0.393 NA 18 62 0 0 0 0 PKHD1 5314 broad.mit.edu 37 6 51921548 51921548 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:51921548G>A uc003pah.1 - 18 1917 c.1641C>T c.(1639-1641)TGC>TGT p.C547C PKHD1_uc003pai.2_Silent_p.C547C NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 547 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GTTCCAGTTTGCATTTTACTG 0.413 NA 24 82 0 0 0 0 EFHC1 114327 broad.mit.edu 37 6 52317592 52317592 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:52317592C>T uc003pap.3 + 4 895 c.680C>T c.(679-681)TCA>TTA p.S227L EFHC1_uc011dwv.1_Missense_Mutation_p.S136L|EFHC1_uc011dww.1_Missense_Mutation_p.S208L NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 227 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) GTCACCCCATCAGACTTTGAT 0.398 NA 22 88 0 0 0 0 BACH2 60468 broad.mit.edu 37 6 90660231 90660231 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:90660231C>G uc011eab.1 - 7 2403 c.1594G>C c.(1594-1596)GGG>CGG p.G532R BACH2_uc003pnw.2_Missense_Mutation_p.G532R|BACH2_uc010kch.2_Missense_Mutation_p.G532R NM_021813 NP_068585 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper 532 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) CCCCCGCTCCCGTCCTCCGCG 0.622 NA 17 51 0 0 0 0 C6orf186 728464 broad.mit.edu 37 6 110567452 110567452 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:110567452G>A uc010kdu.1 - 5 798 c.798C>T c.(796-798)CTC>CTT p.L266L C6orf186_uc003pub.2_Silent_p.L69L NM_001123364 NP_001116836 Q5JXM2 CF186_HUMAN chromosome 6 open reading frame 186 precursor 266 extracellular region 0 GATCTGCCTTGAGAACGTCAA 0.373 NA 10 28 0 0 0 0 REV3L 5980 broad.mit.edu 37 6 111693797 111693797 + Splice_Site SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:111693797A>G uc003puy.3 - 13 6082 c.5759_splice c.e13+1 p.R1920_splice REV3L_uc003pux.3_Splice_Site_p.R1842_splice|REV3L_uc003puz.3_Splice_Site_p.R1842_splice NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) ATAACTGATTACCTGGGCTTT 0.348 NA DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 18 67 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112506519 112506519 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:112506519C>T uc003pvu.2 - 9 1306 c.997G>A c.(997-999)GCC>ACC p.A333T LAMA4_uc003pvv.2_Missense_Mutation_p.A326T|LAMA4_uc003pvt.2_Missense_Mutation_p.A326T NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 333 Potential.|Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TTTCTTAGGGCGTATTGGTTT 0.358 NA 26 111 0 0 0 0 LAMA4 3910 broad.mit.edu 37 6 112508752 112508752 + Missense_Mutation SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:112508752A>G uc003pvu.2 - 8 1175 c.866T>C c.(865-867)CTC>CCC p.L289P LAMA4_uc003pvv.2_Missense_Mutation_p.L282P|LAMA4_uc003pvt.2_Missense_Mutation_p.L282P NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 289 Domain II and I. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CTCGATGGAGAGCGCTGCTAA 0.527 NA 10 33 0 0 0 0 RSPH4A 345895 broad.mit.edu 37 6 116938138 116938138 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:116938138C>T uc003pxe.2 + 1 497 c.352C>T c.(352-354)CCT>TCT p.P118S RSPH4A_uc010kee.2_Missense_Mutation_p.P118S NM_001010892 NP_001010892 Q5TD94 RSH4A_HUMAN radial spoke head 4 homolog A isoform 1 118 cilium axoneme assembly|cilium movement cytoplasm|cytoskeleton|radial spoke 0 GAGTGTGATTCCTGAAGCTGG 0.537 NA Kartagener_syndrome 23 78 0 0 0 0 ROS1 6098 broad.mit.edu 37 6 117709162 117709162 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:117709162C>T uc003pxp.1 - 13 1994 c.1795G>A c.(1795-1797)GAA>AAA p.E599K ROS1_uc011ebi.1_Intron|GOPC_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN proto-oncogene c-ros-1 protein precursor 599 Fibronectin type-III 3.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity lung(8)|ovary(6)|central_nervous_system(3)|skin(3)|stomach(2)|breast(2)|large_intestine(1) 25 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGGCCTAATTCAAAGAGTTCA 0.438 NA T GOPC|ROS1 glioblastoma|NSCLC 31 86 0 0 0 0 CLVS2 134829 broad.mit.edu 37 6 123332247 123332247 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:123332247C>T uc003pzi.1 + 3 1376 c.507C>T c.(505-507)TTC>TTT p.F169F NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 169 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 ACTTCACTTTCAAGCAAGCCT 0.413 NA 14 75 0 0 0 0 KIF25 3834 broad.mit.edu 37 6 168434601 168434601 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:168434601C>T uc003qwk.1 + 4 469 c.207C>T c.(205-207)AGC>AGT p.S69S KIF25_uc003qwl.1_Silent_p.S69S NM_030615 NP_085118 Q9UIL4 KIF25_HUMAN kinesin family member 25 isoform 1 69 Kinesin-motor.|ATP (By similarity). microtubule-based movement|mitotic sister chromatid segregation cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity ovary(1)|pancreas(1) 2 Breast(66;1.07e-05)|Ovarian(120;0.0728) Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756) AGACGGGCAGCGGAAAGAGCT 0.517 NA 15 62 0 0 0 0 BBS9 27241 broad.mit.edu 37 7 33296932 33296932 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:33296932C>T uc003tdn.1 + 6 1040 c.527C>T c.(526-528)CCT>CTT p.P176L BBS9_uc003tdo.1_Missense_Mutation_p.P176L|BBS9_uc003tdp.1_Missense_Mutation_p.P176L|BBS9_uc003tdq.1_Missense_Mutation_p.P176L|BBS9_uc010kwn.1_RNA|BBS9_uc011kan.1_Missense_Mutation_p.P176L|BBS9_uc011kao.1_Missense_Mutation_p.P54L NM_198428 NP_940820 Q3SYG4 PTHB1_HUMAN parathyroid hormone-responsive B1 isoform 2 176 fat cell differentiation|response to stimulus|visual perception BBSome|cilium membrane|microtubule organizing center|nucleus protein binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 GBM - Glioblastoma multiforme(11;0.0894) AGATTTCTCCCTGGCTTTCTT 0.433 NA Bardet-Biedl_syndrome 19 46 0 0 0 0 EGFR 1956 broad.mit.edu 37 7 55221821 55221821 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:55221821G>A uc003tqk.2 + 7 1111 c.865G>A c.(865-867)GCC>ACC p.A289T EGFR_uc003tqh.2_Missense_Mutation_p.A289T|EGFR_uc003tqi.2_Missense_Mutation_p.A289T|EGFR_uc003tqj.2_Missense_Mutation_p.A289T|EGFR_uc010kzg.1_Missense_Mutation_p.A244T|EGFR_uc011kco.1_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289T(3)|p.A289D(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CAGCTTTGGTGCCACCTGCGT 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 12 51 0 0 0 0 GUSB 2990 broad.mit.edu 37 7 65439597 65439597 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:65439597G>A uc003tun.2 - 7 1236 c.1160C>T c.(1159-1161)CCC>CTC p.P387L GUSB_uc011kdt.1_Missense_Mutation_p.P241L NM_000181 NP_000172 P08236 BGLR_HUMAN glucuronidase, beta precursor 387 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding 0 CTCTGCATAGGGGTAGTGGCT 0.597 NA 19 59 0 0 0 0 PION 54103 broad.mit.edu 37 7 76950665 76950665 + Missense_Mutation SNP G G A rs6950836 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:76950665G>A uc003ugf.2 - 25 2058 c.1979C>T c.(1978-1980)TCC>TTC p.S660F PION_uc011kgo.1_Intron|PION_uc003ugd.2_Missense_Mutation_p.S54F NM_017439 NP_059135 A4D1B5 GSAP_HUMAN pigeon homolog 660 beta-amyloid formation|regulation of proteolysis trans-Golgi network beta-amyloid binding central_nervous_system(1) 1 GAGAACCCAGGAATGAAGATT 0.423 NA 5 21 0 0 0 0 GNAT3 346562 broad.mit.edu 37 7 80141221 80141221 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:80141221C>T uc011kgu.1 - 1 22 c.22G>A c.(22-24)GAG>AAG p.E8K CD36_uc003uhc.2_Intron NM_001102386 NP_001095856 A8MTJ3 GNAT3_HUMAN guanine nucleotide binding protein, alpha 8 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(1) 1 TCCTTGCTCTCTGAACTAATT 0.418 NA 9 18 0 0 0 0 OCM2 4951 broad.mit.edu 37 7 97617811 97617811 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:97617811G>A uc003upc.2 - 2 111 c.111C>T c.(109-111)TCC>TCT p.S37S NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 37 calcium ion binding 0 CTGACATCTTGGAGAGGCCTG 0.458 NA 42 128 0 0 0 0 PDAP1 11333 broad.mit.edu 37 7 99001128 99001128 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:99001128C>T uc003uqe.2 - 3 227 c.106G>A c.(106-108)GAA>AAA p.E36K NM_014891 NP_055706 Q13442 HAP28_HUMAN PDGFA associated protein 1 36 cell proliferation|signal transduction 0 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TCCTCTTCTTCCTGTTTCAGA 0.453 NA 18 72 0 0 0 0 GNB2 2783 broad.mit.edu 37 7 100276155 100276155 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:100276155C>T uc003uwb.2 + 9 1107 c.834C>T c.(832-834)TTC>TTT p.F278F GNB2_uc003uwc.2_Silent_p.F234F|GNB2_uc010lhd.2_Silent_p.F234F|GNB2_uc010lhe.2_Silent_p.F234F|GNB2_uc003uwd.2_Silent_p.F178F|GNB2_uc010lhf.2_Silent_p.F178F|GNB2_uc003uwe.2_Silent_p.F278F|GNB2_uc003uwf.2_Silent_p.F178F NM_005273 NP_005264 P62879 GBB2_HUMAN guanine nucleotide-binding protein, beta-2 278 WD 6. cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission perinuclear region of cytoplasm|plasma membrane GTPase activity|GTPase binding|signal transducer activity ovary(2) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) Ovarian(593;0.238) CTGTTGCCTTCTCGCGCAGCG 0.622 NA 19 48 0 0 0 0 GIGYF1 64599 broad.mit.edu 37 7 100280033 100280033 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:100280033C>T uc003uwg.1 - 21 3682 c.2673G>A c.(2671-2673)CTG>CTA p.L891L NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 891 large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) TGCCCTGCAGCAGCTTCAGCA 0.637 NA 8 42 0 0 0 0 CUX1 1523 broad.mit.edu 37 7 101559408 101559408 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:101559408C>A uc003uyx.3 + 2 82 c.44C>A c.(43-45)GCC>GAC p.A15D CUX1_uc003uys.3_Missense_Mutation_p.A26D|CUX1_uc003uyt.2_Missense_Mutation_p.A26D|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Missense_Mutation_p.A26D|CUX1_uc003uyv.2_Missense_Mutation_p.A26D|CUX1_uc003uyu.2_Missense_Mutation_p.A26D NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 15 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 GAACTCGATGCCACCGCAACG 0.498 NA 39 146 1.15e-24 3.24e-24 1 0 CTTNBP2 83992 broad.mit.edu 37 7 117375087 117375087 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:117375087G>A uc003vjf.2 - 16 3848 c.3756C>T c.(3754-3756)GCC>GCT p.A1252A NM_033427 NP_219499 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 1252 ovary(4)|central_nervous_system(1) 5 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) CCTGGAGACAGGCCTTGGCGA 0.537 NA 6 45 0 0 0 0 LRRC4 64101 broad.mit.edu 37 7 127669962 127669962 + Silent SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:127669962G>C uc003vmk.2 - 2 869 c.732C>G c.(730-732)CTC>CTG p.L244L SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 244 Extracellular (Potential).|LRR 8. cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) AGAGCTTCTTGAGGGAGCTCA 0.572 NA 17 40 0 0 0 0 LRRC4 64101 broad.mit.edu 37 7 127670131 127670131 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:127670131G>C uc003vmk.2 - 2 700 c.563C>G c.(562-564)TCT>TGT p.S188C SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 188 LRR 5.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) AGCTCCCTCAGAGATATACTC 0.557 NA 14 57 0 0 0 0 LRRC4 64101 broad.mit.edu 37 7 127670193 127670193 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:127670193G>A uc003vmk.2 - 2 638 c.501C>T c.(499-501)TTC>TTT p.F167F SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 167 LRR 4.|Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GCACCCGGTTGAAGGCGTAAG 0.572 NA 20 79 0 0 0 0 JHDM1D 80853 broad.mit.edu 37 7 139801957 139801957 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:139801957C>T uc003vvm.2 - 12 1436 c.1432G>A c.(1432-1434)GAA>AAA p.E478K JHDM1D_uc010lng.2_RNA NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN jumonji C domain containing histone demethylase 478 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Melanoma(164;0.0142) TTGCCGTTTTCCTCCTTTAAG 0.348 NA 25 62 0 0 0 0 CNTNAP2 26047 broad.mit.edu 37 7 148112633 148112633 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:148112633G>A uc003weu.1 + 24 4437 c.3921G>A c.(3919-3921)GCG>GCA p.A1307A CNTNAP2_uc003wev.1_Silent_p.A84A NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 1307 Cytoplasmic (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CAGAGAGCGCGGACGCCGCCA 0.552 NA HNSCC(39;0.1) 15 58 0 0 0 0 EZH2 2146 broad.mit.edu 37 7 148515125 148515125 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr7:148515125G>A uc003wfd.1 - 10 1235 c.1069C>T c.(1069-1071)CGG>TGG p.R357W EZH2_uc011kug.1_Missense_Mutation_p.R348W|EZH2_uc003wfb.1_Missense_Mutation_p.R362W|EZH2_uc003wfc.1_Missense_Mutation_p.R318W|EZH2_uc011kuh.1_Missense_Mutation_p.R348W|EZH2_uc011kui.1_Missense_Mutation_p.R357W|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 357 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTGGGAAGCCGTCCTCTTCTG 0.537 NA Mis DLBCL 25 104 0 0 0 0 DEFA4 1669 broad.mit.edu 37 8 6794389 6794389 + Silent SNP G G T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:6794389G>T uc003wqu.1 - 2 84 c.33C>A c.(31-33)CTC>CTA p.L11L NM_001925 NP_001916 P12838 DEF4_HUMAN defensin, alpha 4 preproprotein 11 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular space large_intestine(1) 1 COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121) GGGCTACCAAGAGAATAGCAG 0.602 NA 8 37 0.000157383 0.000401626 1 0 SH2D4A 63898 broad.mit.edu 37 8 19231062 19231062 + Silent SNP A A G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:19231062A>G uc003wzb.2 + 8 1275 c.939A>G c.(937-939)ACA>ACG p.T313T SH2D4A_uc011kym.1_Silent_p.T268T|SH2D4A_uc003wzc.2_Silent_p.T313T NM_022071 NP_071354 Q9H788 SH24A_HUMAN SH2 domain containing 4A 313 cytoplasm|nucleus protein binding 0 Colorectal(111;0.0732) TGGTGAGGACACTGTCCAGCT 0.408 NA 10 28 0 0 0 0 CSGALNACT1 55790 broad.mit.edu 37 8 19362961 19362961 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:19362961C>A uc011kyn.1 - 4 1449 c.385G>T c.(385-387)GAC>TAC p.D129Y CSGALNACT1_uc011kyo.1_Missense_Mutation_p.D129Y|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.D128Y|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 129 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) TCTGCCTTGTCCACCTGCGAG 0.597 NA 25 73 3.65e-15 1.01e-14 1 0 PTK2B 2185 broad.mit.edu 37 8 27289833 27289833 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:27289833G>A uc003xfn.1 + 15 1750 c.942G>A c.(940-942)GAG>GAA p.E314E PTK2B_uc003xfo.1_Silent_p.E314E|PTK2B_uc003xfp.1_Silent_p.E314E|PTK2B_uc003xfq.1_Silent_p.E314E|PTK2B_uc010luq.1_Silent_p.E85E|PTK2B_uc003xfr.1_Silent_p.E60E NM_173174 NP_775266 Q14289 FAK2_HUMAN PTK2B protein tyrosine kinase 2 beta isoform a 314 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity lung(3)|ovary(1)|skin(1) 5 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TCCCGCTGGAGGAGGGCCAGG 0.622 NA 7 28 0 0 0 0 PROSC 11212 broad.mit.edu 37 8 37623261 37623261 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:37623261C>A uc003xkh.2 + 3 317 c.240C>A c.(238-240)CCC>CCA p.P80P NM_007198 NP_009129 O94903 PROSC_HUMAN proline synthetase co-transcribed homolog 80 pyridoxal phosphate binding central_nervous_system(1) 1 Lung NSC(58;0.174) BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) L-Proline(DB00172)|Pyridoxal Phosphate(DB00114) CATCAAATCCCAAAGTAAGTA 0.383 NA 6 222 0.00116845 0.00292395 1 0 ADRB3 155 broad.mit.edu 37 8 37823854 37823854 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:37823854G>A uc003xkr.1 - 1 331 c.134C>T c.(133-135)GCG>GTG p.A45V NM_000025 NP_000016 P13945 ADRB3_HUMAN adrenergic, beta-3-, receptor 45 Helical; Name=1; (By similarity). carbohydrate metabolic process|energy reserve metabolic process|positive regulation of MAPKKK cascade integral to plasma membrane|receptor complex beta3-adrenergic receptor activity|protein homodimerization activity lung(2) 2 Colorectal(12;0.00627) Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;1.37e-11) Norepinephrine(DB00368)|Pindolol(DB00960)|Propranolol(DB00571) CACCGCCAGCGCCAGCAGGGC 0.697 NA 8 22 0 0 0 0 MATN2 4147 broad.mit.edu 37 8 99039681 99039681 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:99039681C>T uc003yic.2 + 14 2211 c.1980C>T c.(1978-1980)ATC>ATT p.I660I MATN2_uc010mbh.1_Silent_p.I619I|MATN2_uc003yid.2_Silent_p.I660I|MATN2_uc003yie.1_Silent_p.I660I|MATN2_uc010mbi.1_Silent_p.I493I|MATN2_uc010mbj.1_Intron|RPL30_uc010mbk.1_Intron NM_002380 NP_002371 O00339 MATN2_HUMAN matrilin 2 isoform a precursor 660 VWFA 2. proteinaceous extracellular matrix calcium ion binding ovary(2) 2 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) TCTTTGTGATCGATGGATCCA 0.403 NA 26 85 0 0 0 0 COL14A1 7373 broad.mit.edu 37 8 121267542 121267542 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:121267542G>A uc003yox.2 + 23 3081 c.2816G>A c.(2815-2817)TGG>TAG p.W939* COL14A1_uc003yoy.2_Nonsense_Mutation_p.W617* NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 939 Fibronectin type-III 8. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) TGTGCCCACTGGCAGGTACAT 0.438 NA 36 96 0 0 0 0 ARC 23237 broad.mit.edu 37 8 143695543 143695543 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:143695543C>G uc003ywn.1 - 1 291 c.90G>C c.(88-90)CAG>CAC p.Q30H NM_015193 NP_056008 Q7LC44 ARC_HUMAN activity-regulated cytoskeleton-associated 30 endocytosis acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane breast(1) 1 all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.0279) ACTTCCCGATCTGCAGGATCA 0.726 NA 4 19 0 0 0 0 JRK 8629 broad.mit.edu 37 8 143746149 143746149 + Silent SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:143746149C>T uc003ywo.2 - 2 1843 c.1329G>A c.(1327-1329)GCG>GCA p.A443A JRK_uc003ywp.2_Silent_p.A443A|JRK_uc010mew.1_Silent_p.A443A NM_001077527 NP_001070995 jerky isoform b 0 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;2.31e-05) cctcccttcccgctacccccc 0 NA 5 12 0 0 0 0 GPIHBP1 338328 broad.mit.edu 37 8 144297245 144297245 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr8:144297245G>A uc003yxu.1 + 4 482 c.407G>A c.(406-408)TGC>TAC p.C136Y NM_178172 NP_835466 Q8IV16 HDBP1_HUMAN glycosylphosphatidylinositol anchored high 136 UPAR/Ly6. cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity 0 all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) TCCAGCCTGTGCAATGTCCCA 0.672 NA 22 65 0 0 0 0 FAM108B1 51104 broad.mit.edu 37 9 74489807 74489807 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:74489807C>A uc004aim.1 - 2 792 c.190G>T c.(190-192)GAT>TAT p.D64Y FAM108B1_uc004ail.2_Missense_Mutation_p.D64Y NM_001025780 NP_001020951 Q5VST6 F108B_HUMAN family with sequence similarity 108, member B1 64 extracellular region hydrolase activity 0 TCAATAGCATCTTTTTCTCTA 0.413 NA 7 70 5.18e-06 1.36e-05 1 0 CRB2 286204 broad.mit.edu 37 9 126136903 126136903 + Silent SNP C C T rs148933240 byFrequency TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:126136903C>T uc004bnx.1 + 11 3527 c.3435C>T c.(3433-3435)CTC>CTT p.L1145L NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 1145 Extracellular (Potential).|EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 TCACCTGCCTCGATGGCAGCC 0.657 NA 20 28 0 0 0 0 LAMC3 10319 broad.mit.edu 37 9 133932455 133932455 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr9:133932455G>A uc004caa.1 + 12 2177 c.2079G>A c.(2077-2079)AGG>AGA p.R693R NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 precursor 693 Laminin EGF-like 5; second part. cell adhesion basement membrane|membrane structural molecule activity ovary(2)|pancreas(1) 3 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) GATACAAGAGGGAGATGCCAC 0.612 NA 23 67 0 0 0 0 NHS 4810 broad.mit.edu 37 X 17744773 17744773 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:17744773G>A uc004cxx.2 + 6 2822 c.2484G>A c.(2482-2484)CCG>CCA p.P828P NHS_uc011mix.1_Silent_p.P849P|NHS_uc004cxy.2_Silent_p.P672P|NHS_uc004cxz.2_Silent_p.P651P|NHS_uc004cya.2_Silent_p.P551P NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 828 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) AGGCAAAGCCGACCCCACCTA 0.502 NA 29 141 0 0 0 0 SRPX 8406 broad.mit.edu 37 X 38009042 38009042 + Silent SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:38009042G>A uc004ddy.1 - 10 1403 c.1317C>T c.(1315-1317)TTC>TTT p.F439F SRPX_uc004ddz.1_Silent_p.F419F|SRPX_uc011mkh.1_Silent_p.F380F|SRPX_uc011mki.1_3'UTR NM_006307 NP_006298 P78539 SRPX_HUMAN sushi-repeat-containing protein, X-linked 439 cell adhesion cell surface|membrane 0 CAATCAGGTTGAACAGGGCCA 0.498 NA 18 48 0 0 0 0 MAOB 4129 broad.mit.edu 37 X 43652760 43652760 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:43652760C>A uc004dfz.3 - 8 1010 c.834G>T c.(832-834)CTG>CTT p.L278L MAOB_uc011mkx.1_Silent_p.L262L|MAOB_uc011mky.1_Silent_p.L262L NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B 278 Cytoplasmic. xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) TCATCATTGGCAGAGGGGGAT 0.413 NA 24 63 1.43e-11 3.89e-11 1 0 TFE3 7030 broad.mit.edu 37 X 48891046 48891046 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:48891046C>T uc004dmb.3 - 8 1308 c.1070G>A c.(1069-1071)CGC>CAC p.R357H TFE3_uc004dmc.3_Missense_Mutation_p.R252H|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 357 Basic motif. humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 GAATCGCCTGCGACGCTCAAC 0.532 NA T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 22 47 0 0 0 0 ZXDB 158586 broad.mit.edu 37 X 57618953 57618953 + Missense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:57618953G>A uc004dvd.2 + 1 685 c.472G>A c.(472-474)GCC>ACC p.A158T NM_007157 NP_009088 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 cccgatctccgcccccggccc 0.463 NA 6 15 0 0 0 0 EDA 1896 broad.mit.edu 37 X 69253319 69253320 + Missense_Mutation DNP CG CG AA TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:69253319_69253320CG>AA uc004dxs.2 + 7 1107_1108 c.865_866CG>AA c.(865-867)CGC>AAC p.R289N EDA_uc004dxr.2_Missense_Mutation_p.R289N|EDA_uc011mpj.1_Missense_Mutation_p.R286N NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 289 Extracellular (Potential). cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 GCTACATCCCCGCAGCGGGGAG 0.5 NA OREG0019847 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 149 0 0 0 0 AWAT1 158833 broad.mit.edu 37 X 69458111 69458111 + Silent SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:69458111C>A uc004dxy.2 + 5 551 c.510C>A c.(508-510)GGC>GGA p.G170G NM_001013579 NP_001013597 Q58HT5 AWAT1_HUMAN wax synthase 1 170 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane long-chain-alcohol O-fatty-acyltransferase activity ovary(3) 3 TGAGCCATGGCACTGGCAACC 0.542 NA 30 76 2.85e-18 7.95e-18 1 0 RGAG4 340526 broad.mit.edu 37 X 71351044 71351044 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:71351044C>T uc010nlh.1 - 1 708 c.347G>A c.(346-348)GGG>GAG p.G116E NHSL2_uc011mqa.1_Intron|RGAG4_uc004eaj.1_RNA|NHSL2_uc004eak.1_5'Flank|NHSL2_uc010nli.2_5'Flank NM_001024455 NP_001019626 Q5HYW3 RGAG4_HUMAN retrotransposon gag domain containing 4 116 ovary(2)|skin(1) 3 Renal(35;0.156) GTCAGCGGGCCCGTCGGGGGT 0.697 NA 6 12 0 0 0 0 ATRX 546 broad.mit.edu 37 X 76937979 76937979 + Missense_Mutation SNP C C A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:76937979C>A uc004ecp.3 - 9 3001 c.2769G>T c.(2767-2769)AAG>AAT p.K923N ATRX_uc004ecq.3_Missense_Mutation_p.K885N|ATRX_uc004eco.3_Missense_Mutation_p.K708N|ATRX_uc004ecr.2_Missense_Mutation_p.K855N|ATRX_uc010nlx.1_Missense_Mutation_p.K894N|ATRX_uc010nly.1_Missense_Mutation_p.K868N NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 923 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TCCCAGAAAGCTTATCGACAC 0.398 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 41 230 4.33e-17 1.2e-16 1 0 ATG4A 115201 broad.mit.edu 37 X 107377334 107377334 + Missense_Mutation SNP A A C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:107377334A>C uc004enr.2 + 5 463 c.340A>C c.(340-342)ATC>CTC p.I114L ATG4A_uc004ent.2_Missense_Mutation_p.I114L|ATG4A_uc004ens.2_Missense_Mutation_p.I30L|ATG4A_uc011msl.1_Missense_Mutation_p.I30L|ATG4A_uc010npi.2_RNA|ATG4A_uc004enu.2_Missense_Mutation_p.I30L NM_052936 NP_443168 Q8WYN0 ATG4A_HUMAN autophagy-related cysteine endopeptidase 2 114 autophagy|protein transport|proteolysis cytoplasm cysteine-type peptidase activity pancreas(1) 1 ATACCAACGCATCCTACAGTG 0.348 NA 14 21 0 0 0 0 GUCY2F 2986 broad.mit.edu 37 X 108708626 108708626 + Missense_Mutation SNP C C G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:108708626C>G uc004eod.3 - 3 1053 c.777G>C c.(775-777)CAG>CAC p.Q259H GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 259 Extracellular (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 AGAGATGCATCTGAGTCTCTC 0.413 NA 44 127 0 0 0 0 WDR44 54521 broad.mit.edu 37 X 117526618 117526618 + Missense_Mutation SNP G G C TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:117526618G>C uc004eqn.2 + 4 635 c.210G>C c.(208-210)GAG>GAC p.E70D WDR44_uc004eqo.2_Missense_Mutation_p.E70D|WDR44_uc011mtr.1_Missense_Mutation_p.E45D|WDR44_uc010nqi.2_5'UTR NM_019045 NP_061918 Q5JSH3 WDR44_HUMAN WD repeat domain 44 protein 70 Binding activity. cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 5 TTATTGAGGAGAGTCAGAAAG 0.308 NA 19 65 0 0 0 0 THOC2 57187 broad.mit.edu 37 X 122767863 122767863 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:122767863C>T uc004etu.2 - 20 2109 c.2077G>A c.(2077-2079)GAG>AAG p.E693K THOC2_uc011muh.1_Missense_Mutation_p.E618K NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 693 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 GTCATTTCCTCTGTAATTTCT 0.333 NA 18 87 0 0 0 0 L1CAM 3897 broad.mit.edu 37 X 153128177 153128177 + Missense_Mutation SNP C C T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:153128177C>T uc004fjb.2 - 28 3823 c.3715G>A c.(3715-3717)GGG>AGG p.G1239R L1CAM_uc004fjc.2_Missense_Mutation_p.G1235R|L1CAM_uc010nuo.2_Missense_Mutation_p.G1230R NM_000425 NP_000416 P32004 L1CAM_HUMAN L1 cell adhesion molecule isoform 1 precursor 1239 Cytoplasmic (Potential). G -> E. 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) TCATTGCCCCCTGCCGCCTCC 0.602 NA 22 67 0 0 0 0 MTCP1NB 100272147 broad.mit.edu 37 X 154292277 154292277 + Nonsense_Mutation SNP G G A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:154292277G>A uc004fmy.2 - 2 611 c.22C>T c.(22-24)CAG>TAG p.Q8* NM_001018024 NP_001018024 P56277 MTCNB_HUMAN mature T-cell proliferation 1 neighbor 8 cell proliferation mitochondrion lung(1) 1 GCTTGCTTCTGGCACGGATCC 0.328 NA 32 151 0 0 0 0 EPHA2 1969 broad.mit.edu 37 1 16475160 16475161 + Frame_Shift_Ins INS - - A TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:16475160_16475161insA uc001aya.1 - 3 672_673 c.535_536insT c.(535-537)TACfs p.Y179fs EPHA2_uc010oca.1_Frame_Shift_Ins_p.Y179fs NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 179 Extracellular (Potential). activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) GAAGGCCAGGTAGAAGCCTTTG 0.644 NA 20 66 --- --- --- --- NA NA NA NA C1orf172 126695 broad.mit.edu 37 1 27278782 27278783 + Frame_Shift_Del DEL AT AT - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr1:27278782_27278783delAT uc001bni.1 - 2 178_179 c.89_90delAT c.(88-90)TATfs p.Y30fs NM_152365 NP_689578 Q8NAX2 CA172_HUMAN hypothetical protein LOC126695 30 Pro-rich. large_intestine(1)|ovary(1) 2 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) GTGGTTTATCATATGTCTCCAG 0.629 NA 22 63 --- --- --- --- NA NA NA NA ARID2 196528 broad.mit.edu 37 12 46123891 46123892 + Frame_Shift_Del DEL AG AG - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:46123891_46123892delAG uc001ros.1 + 2 157_158 c.157_158delAG c.(157-159)AGAfs p.R53fs ARID2_uc001ror.2_Frame_Shift_Del_p.R53fs|LOC400027_uc001roq.2_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 53 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TCTCTACACCAGAGTCACTACT 0.53 NA 10 30 --- --- --- --- NA NA NA NA MLL2 8085 broad.mit.edu 37 12 49420671 49420672 + Frame_Shift_Ins INS - - GGTA TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr12:49420671_49420672insGGTA uc001rta.3 - 48 15077_15078 c.15077_15078insTACC c.(15076-15078)CCGfs p.P5026fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5026 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 GCATGTCTCGCGGTACCTTGTC 0.624 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 17 88 --- --- --- --- NA NA NA NA ARGLU1 55082 broad.mit.edu 37 13 107219952 107219953 + In_Frame_Ins INS - - CTC TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr13:107219952_107219953insCTC uc001vqk.3 - 1 562_563 c.315_316insGAG c.(313-318)insGAG p.105_106insE NM_018011 NP_060481 Q9NWB6 ARGL1_HUMAN arginine and glutamate rich 1 105_106 Glu-rich. 0 Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TCCGCTTTCTTCTCCTCCTCCT 0.46 NA 20 87 --- --- --- --- NA NA NA NA TP53 7157 broad.mit.edu 37 17 7578267 7578268 + Frame_Shift_Ins INS - - AG TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr17:7578267_7578268insAG uc002gim.2 - 6 775_776 c.581_582insCT c.(580-582)CTTfs p.L194fs TP53_uc002gig.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gih.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cng.1_Frame_Shift_Ins_p.L62fs|TP53_uc002gii.1_Frame_Shift_Ins_p.L62fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.L194fs|TP53_uc010cni.1_Frame_Shift_Ins_p.L194fs|TP53_uc002gij.2_Frame_Shift_Ins_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Ins_p.L101fs|TP53_uc002gio.2_Frame_Shift_Ins_p.L62fs|TP53_uc010vug.1_Frame_Shift_Ins_p.L155fs NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 194 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). L -> H (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> F (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> V (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.L194R(31)|p.L194F(16)|p.L194P(8)|p.0?(7)|p.L194H(5)|p.L194L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191fs*53(2)|p.L194fs*15(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.I195fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.L194fs*14(1)|p.L194fs*52(1)|p.A189fs*53(1)|p.L194I(1)|p.I195fs*52(1)|p.H193_I195>AP(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) CCACTCGGATAAGATGCTGAGG 0.554 111 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) 20 47 --- --- --- --- NA NA NA NA GMIP 51291 broad.mit.edu 37 19 19744918 19744929 + In_Frame_Del DEL CGGCGGCCGCAG CGGCGGCCGCAG - rs144433615 by1000genomes TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:19744918_19744929delCGGCGGCCGCAG uc002nnd.2 - 19 2272_2283 c.2155_2166delCTGCGGCCGCCG c.(2155-2166)CTGCGGCCGCCGdel p.LRPP719del GMIP_uc010xrb.1_In_Frame_Del_p.LRPP693del|GMIP_uc010xrc.1_In_Frame_Del_p.LRPP690del NM_016573 NP_057657 Q9P107 GMIP_HUMAN GEM interacting protein 719_722 Rho-GAP. negative regulation of Rho GTPase activity|small GTPase mediated signal transduction cytosol metal ion binding|protein binding|Rho GTPase activator activity ovary(1) 1 GCGGGCCGTCCGGCGGCCGCAGCAGTGTCGGC 0.613 NA 9 68 --- --- --- --- NA NA NA NA MLL4 9757 broad.mit.edu 37 19 36218454 36218474 + In_Frame_Del DEL GGGCCTGCGCCAGGTGCTCCA GGGCCTGCGCCAGGTGCTCCA - rs34078597 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr19:36218454_36218474delGGGCCTGCGCCAGGTGCTCCA uc010eei.2 + 17 4233_4253 c.4233_4253delGGGCCTGCGCCAGGTGCTCCA c.(4231-4254)GGGGGCCTGCGCCAGGTGCTCCAG>GGG p.GLRQVLQ1412del NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1412_1418 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCCTCCAGGGGGGCCTGCGCCAGGTGCTCCAGGGCCTGCTG 0.724 NA 17 86 --- --- --- --- NA NA NA NA CASP8 841 broad.mit.edu 37 2 202149546 202149551 + In_Frame_Del DEL GACCAC GACCAC - rs139337151 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr2:202149546_202149551delGACCAC uc002uxr.1 + 9 1019_1024 c.810_815delGACCAC c.(808-816)TTGACCACG>TTG p.TT271del CASP8_uc002uxp.1_In_Frame_Del_p.TT288del|CASP8_uc002uxq.1_In_Frame_Del_p.TT256del|CASP8_uc002uxt.1_In_Frame_Del_p.TT330del|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_In_Frame_Del_p.TT256del|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_In_Frame_Del_p.TT187del NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 271_272 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 CAGGGGCTTTGACCACGACCTTTGAA 0.422 NA HNSCC(4;0.00038) 16 34 --- --- --- --- NA NA NA NA DLGAP4 22839 broad.mit.edu 37 20 35075135 35075135 + Frame_Shift_Del DEL G G - rs112014857 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr20:35075135delG uc002xff.2 + 7 1878 c.1443delG c.(1441-1443)GCGfs p.A481fs DLGAP4_uc010zvp.1_Frame_Shift_Del_p.A481fs NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 481 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGTATGAGGCGGCCTGCGAGT 0.632 NA 11 26 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187534466 187534467 + Frame_Shift_Ins INS - - G TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:187534466_187534467insG uc003izf.2 - 13 9447_9448 c.9259_9260insC c.(9259-9261)CGTfs p.R3087fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3087 Extracellular (Potential).|Cadherin 28. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTGCTCCTCACGATCAAGGGGG 0.446 NA HNSCC(5;0.00058) 20 74 --- --- --- --- NA NA NA NA FAT1 2195 broad.mit.edu 37 4 187539457 187539469 + Frame_Shift_Del DEL CTTCAGTCTCCCG CTTCAGTCTCCCG - TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr4:187539457_187539469delCTTCAGTCTCCCG uc003izf.2 - 10 8459_8471 c.8271_8283delCGGGAGACTGAAG c.(8269-8283)AGCGGGAGACTGAAGfs p.S2757fs NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2757_2761 Extracellular (Potential).|Cadherin 25. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TCTTCTCCAACTTCAGTCTCCCGCTCTGTCTGT 0.465 NA HNSCC(5;0.00058) 49 166 --- --- --- --- NA NA NA NA C6orf223 221416 broad.mit.edu 37 6 43970503 43970504 + In_Frame_Ins INS - - GCG rs72369323 TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chr6:43970503_43970504insGCG uc003own.2 + 4 387_388 c.369_370insGCG c.(367-372)insGCG p.132_133insA uc003owm.1_Intron|C6orf223_uc003owo.2_In_Frame_Ins_p.112_113insA NM_153246 NP_694978 Q8N319 CF223_HUMAN hypothetical protein LOC221416 132_133 Ala-rich. 0 all_cancers(18;2.28e-07)|all_epithelial(2;1.62e-08)|Lung NSC(15;0.000172)|all_lung(25;0.000533)|Hepatocellular(11;0.00309)|Ovarian(13;0.0437) all cancers(41;0.00141)|Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.217) CGGTAGAGCGCgcggcggcggc 0.639 NA 8 10 --- --- --- --- NA NA NA NA ATRX 546 broad.mit.edu 37 X 76920172 76920173 + Frame_Shift_Ins INS - - T TCGA-CV-7252-01A-11D-2012-08 TCGA-CV-7252-10A-01D-2013-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 9692c6b2-ce97-4c92-a0dd-f27d01a94e6e 129a2324-5efb-4d86-b7ee-5534e24cf638 g.chrX:76920172_76920173insT uc004ecp.3 - 11 4136_4137 c.3904_3905insA c.(3904-3906)AGAfs p.R1302fs ATRX_uc004ecq.3_Frame_Shift_Ins_p.R1264fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.R1087fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.R1234fs NM_000489 NP_000480 P46100 ATRX_HUMAN transcriptional regulator ATRX isoform 1 1302 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1) 30 Phosphatidylserine(DB00144) TTTTCCAGTTCTTTTTTTCCCT 0.376 NA Mis|F|N Pancreatic neuroendocrine tumors ATR-X (alpha thalassemia/mental retardation) syndrome 8 118 --- --- --- --- NA NA NA NA