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 CDK11A 728642 broad.mit.edu 37 1 1635057 1635057 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:1635057C>T uc009vks.2 - 18 2026 c.1918G>A c.(1918-1920)GGG>AGG p.G640R CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.3_Intron|SLC35E2_uc009vkm.1_Intron|CDK11A_uc001ahj.3_Missense_Mutation_p.G147R|CDK11A_uc009vkp.2_Missense_Mutation_p.G257R|CDK11A_uc009vkq.2_RNA|CDK11A_uc009vkr.2_Missense_Mutation_p.G630R NM_024011 NP_076916 Q9UQ88 CD11A_HUMAN cell division cycle 2-like 2 isoform 1 643 Protein kinase. apoptosis|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding stomach(1) 1 CTGGGGGTCCCCAGCTCCTGA 0.572 NA 3 7 0 0 0 0 FBLIM1 54751 broad.mit.edu 37 1 16096922 16096922 + Missense_Mutation SNP A A G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:16096922A>G uc001axd.1 + 7 1003 c.560A>G c.(559-561)CAC>CGC p.H187R FBLIM1_uc001axe.1_Missense_Mutation_p.H187R|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.H187R|FBLIM1_uc001axh.1_Missense_Mutation_p.H90R|FBLIM1_uc001axi.1_Missense_Mutation_p.H90R NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 187 LIM zinc-binding 1. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) GCCTTCTGCCACAAGACCGTG 0.637 NA 35 50 0 0 0 0 FBLIM1 54751 broad.mit.edu 37 1 16097009 16097009 + Missense_Mutation SNP G G A rs138675454 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:16097009G>A uc001axd.1 + 7 1090 c.647G>A c.(646-648)CGC>CAC p.R216H FBLIM1_uc001axe.1_Missense_Mutation_p.R216H|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axg.1_Missense_Mutation_p.R216H|FBLIM1_uc001axh.1_Missense_Mutation_p.R119H|FBLIM1_uc001axi.1_Missense_Mutation_p.R119H NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 216 LIM zinc-binding 1. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) ACCTGCCGCCGCCAGCTGGCT 0.592 NA 22 51 0 0 0 0 UBR4 23352 broad.mit.edu 37 1 19436918 19436918 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:19436918G>T uc001bbi.2 - 80 11937 c.11933C>A c.(11932-11934)TCT>TAT p.S3978Y NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 3978 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CTTGGAGATAGAATCCGTCAG 0.537 NA 28 60 1.07e-15 1.25e-15 1 0 RAP1GAP 5909 broad.mit.edu 37 1 21924900 21924900 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:21924900G>C uc001bex.2 - 22 2130 c.1872C>G c.(1870-1872)AGC>AGG p.S624R RAP1GAP_uc001bev.2_Missense_Mutation_p.S709R|RAP1GAP_uc001bew.2_Missense_Mutation_p.S688R|RAP1GAP_uc001bey.2_Missense_Mutation_p.S650R NM_002885 NP_002876 P47736 RPGP1_HUMAN RAP1 GTPase activating protein isoform c 624 regulation of Ras GTPase activity|signal transduction cytosol|Golgi membrane|membrane fraction GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding breast(2)|ovary(1) 3 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146) TACCTGGGGAGCTGCCCCCAC 0.622 NA 4 91 0 0 0 0 TRIM63 84676 broad.mit.edu 37 1 26392775 26392775 + Missense_Mutation SNP T T G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:26392775T>G uc001bli.1 - 2 452 c.316A>C c.(316-318)AAA>CAA p.K106Q NM_032588 NP_115977 Q969Q1 TRI63_HUMAN muscle specific ring finger protein 1 106 Interaction with TTN. cytoplasm|microtubule|nucleus ligase activity|signal transducer activity|titin binding|zinc ion binding kidney(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CACTCCTGTTTGTAGATGTCG 0.622 NA 3 162 0 0 0 0 C1orf91 56063 broad.mit.edu 37 1 32682796 32682796 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:32682796G>A uc009vub.1 - 4 395 c.392C>T c.(391-393)TCC>TTC p.S131F C1orf91_uc001buo.3_Intron|C1orf91_uc001bup.3_Intron|C1orf91_uc010oha.1_Intron|C1orf91_uc001buq.3_Intron Q8WY98 TM234_HUMAN RecName: Full=UPF0546 membrane protein C1orf91; Error:Variant_position_missing_in_Q8WY98_after_alignment integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTCTGGGAAGGAACTAACACA 0.532 NA 16 22 0 0 0 0 PLK3 1263 broad.mit.edu 37 1 45271192 45271192 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:45271192C>A uc001cmn.2 + 15 1883 c.1783C>A c.(1783-1785)CTC>ATC p.L595I PLK3_uc001cmo.2_RNA|BTBD19_uc010old.1_5'Flank|BTBD19_uc010ole.1_5'Flank NM_004073 NP_004064 Q9H4B4 PLK3_HUMAN polo-like kinase 3 595 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity 0 Acute lymphoblastic leukemia(166;0.155) CAAGCTGATTCTCAGTGGCTG 0.597 NA 173 217 1.49e-95 1.81e-95 1 0 UROD 7389 broad.mit.edu 37 1 45481099 45481099 + Missense_Mutation SNP A A G rs142869188 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:45481099A>G uc001cna.1 + 10 1141 c.1033A>G c.(1033-1035)ATG>GTG p.M345V UROD_uc001cnb.1_Missense_Mutation_p.M310V|UROD_uc001cnc.1_Missense_Mutation_p.M250V NM_000374 NP_000365 P06132 DCUP_HUMAN uroporphyrinogen decarboxylase 345 cytosol|microtubule cytoskeleton|nucleus uroporphyrinogen decarboxylase activity 0 Acute lymphoblastic leukemia(166;0.155) TTATCCTGACATGGACCCAGA 0.527 NA Porphyria_Cutanea_Tarda_Type_II 43 54 0 0 0 0 MAST2 23139 broad.mit.edu 37 1 46471917 46471917 + Nonsense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:46471917C>G uc001cov.2 + 8 1035 c.752C>G c.(751-753)TCA>TGA p.S251* MAST2_uc001cow.2_Nonsense_Mutation_p.S251*|MAST2_uc001cox.1_Nonsense_Mutation_p.S115*|MAST2_uc001coy.1_Translation_Start_Site|MAST2_uc001coz.1_Nonsense_Mutation_p.S136*|MAST2_uc009vya.2_Nonsense_Mutation_p.S173*|MAST2_uc001cpa.2_RNA NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN microtubule associated serine/threonine kinase 251 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity ovary(5)|lung(3)|stomach(2)|breast(1) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CTCTAGTCATCATGCTCCTCA 0.478 NA 7 282 0 0 0 0 DOCK7 85440 broad.mit.edu 37 1 62954604 62954604 + Splice_Site SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:62954604C>A uc001daq.2 - 42 5500 c.5466_splice c.e42+1 p.Q1822_splice DOCK7_uc001dan.2_Splice_Site_p.Q1683_splice|DOCK7_uc001dao.2_Splice_Site_p.Q1683_splice|DOCK7_uc001dap.2_Splice_Site_p.Q1800_splice|DOCK7_uc001dam.2_Splice_Site_p.Q1002_splice|DOCK7_uc010oov.1_Splice_Site_p.Q561_splice NM_033407 NP_212132 Q96N67 DOCK7_HUMAN dedicator of cytokinesis 7 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 GGAATCATTACCTGATGAACA 0.353 NA 18 67 1.16e-05 1.29e-05 1 0 LRRIQ3 127255 broad.mit.edu 37 1 74492542 74492542 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:74492542C>T uc001dfy.3 - 8 2022 c.1830G>A c.(1828-1830)GTG>GTA p.V610V LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 610 Potential. ovary(2) 2 AATTTGTTTTCACAATTGCTA 0.284 NA 26 38 0 0 0 0 CELSR2 1952 broad.mit.edu 37 1 109794495 109794495 + Silent SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:109794495G>C uc001dxa.3 + 1 1855 c.1794G>C c.(1792-1794)GTG>GTC p.V598V NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 598 Cadherin 4.|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) GTGTCAGCGTGACTGTCCTGG 0.562 NA 4 77 0 0 0 0 C1orf162 128346 broad.mit.edu 37 1 112020686 112020686 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:112020686G>A uc001ebe.2 + 6 469 c.409G>A c.(409-411)GAG>AAG p.E137K NM_174896 NP_777556 Q8NEQ5 CA162_HUMAN hypothetical protein LOC128346 137 integral to membrane ovary(1) 1 all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043) Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134) TCACTTGGCTGAGAACCATTC 0.428 NA 6 151 0 0 0 0 TSPAN2 10100 broad.mit.edu 37 1 115604779 115604779 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:115604779C>T uc001eft.2 - 3 309 c.247G>A c.(247-249)GAG>AAG p.E83K NM_005725 NP_005716 O60636 TSN2_HUMAN tetraspan 2 83 Cytoplasmic (Potential). integral to membrane 0 Lung SC(450;0.211) all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) CATTGCGACTCCCGCATGGCT 0.453 NA 6 15 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152284699 152284699 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:152284699C>A uc001ezu.1 - 3 2699 c.2663G>T c.(2662-2664)GGA>GTA p.G888V uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 888 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACTTCTGGATCCTGACTGCCC 0.562 NA Ichthyosis 38 748 1.52e-26 1.83e-26 1 0 PTPRC 5788 broad.mit.edu 37 1 198701643 198701643 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:198701643C>T uc001gur.1 + 20 2274 c.2094C>T c.(2092-2094)AAC>AAT p.N698N PTPRC_uc001gus.1_Silent_p.N650N|PTPRC_uc001gut.1_Silent_p.N537N|PTPRC_uc009wzf.1_Silent_p.N586N|PTPRC_uc010ppg.1_Silent_p.N634N NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 698 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. 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 CTGAGATAAACGGAGATGCAG 0.318 NA 16 27 0 0 0 0 TTC13 79573 broad.mit.edu 37 1 231064751 231064751 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr1:231064751G>A uc001huf.3 - 12 1420 c.1389C>T c.(1387-1389)CAC>CAT p.H463H TTC13_uc009xfi.2_Silent_p.H410H|TTC13_uc009xfj.2_RNA|TTC13_uc001hug.3_Silent_p.H410H|TTC13_uc009xfk.1_Silent_p.H353H NM_024525 NP_078801 Q8NBP0 TTC13_HUMAN tetratricopeptide repeat domain 13 isoform a 463 binding ovary(1)|skin(1) 2 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) COAD - Colon adenocarcinoma(196;0.243) TTTTAGCCCAGTGGTCCTTAA 0.413 NA 72 106 0 0 0 0 ITIH5 80760 broad.mit.edu 37 10 7605143 7605143 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr10:7605143G>A uc001ijq.2 - 14 2811 c.2732C>T c.(2731-2733)GCC>GTC p.A911V ITIH5_uc001ijp.2_Missense_Mutation_p.A697V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 911 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 CAGTTTGGCGGCATTGTTCCT 0.522 NA 4 216 0 0 0 0 NRP1 8829 broad.mit.edu 37 10 33552574 33552574 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr10:33552574C>T uc001iwx.3 - 4 1181 c.658G>A c.(658-660)GTT>ATT p.V220I NRP1_uc001iwv.3_Missense_Mutation_p.V220I|NRP1_uc009xlz.2_Missense_Mutation_p.V220I|NRP1_uc001iww.3_Missense_Mutation_p.V39I|NRP1_uc001iwy.3_Missense_Mutation_p.V220I|NRP1_uc001iwz.2_Missense_Mutation_p.V220I|NRP1_uc001ixa.2_Missense_Mutation_p.V220I|NRP1_uc001ixb.1_Missense_Mutation_p.V220I|NRP1_uc001ixc.1_Missense_Mutation_p.V220I NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 220 Extracellular (Potential).|CUB 2. axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TCATTCTTACCATCAGGGAAT 0.463 NA 9 44 0 0 0 0 CCDC109A 90550 broad.mit.edu 37 10 74645514 74645514 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr10:74645514C>T uc001jtc.2 + 8 1011 c.990C>T c.(988-990)GAC>GAT p.D330D CCDC109A_uc009xqr.2_Silent_p.D309D|CCDC109A_uc001jtd.2_Silent_p.D281D NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A 330 Potential.|Mitochondrial matrix (Potential). elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) CAGAAATGGACCTTAAGAGAC 0.393 NA 20 88 0 0 0 0 NEURL 9148 broad.mit.edu 37 10 105330708 105330708 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr10:105330708C>T uc001kxh.2 + 2 575 c.165C>T c.(163-165)AGC>AGT p.S55S NM_004210 NP_004201 O76050 NEU1A_HUMAN neuralized-like 55 nervous system development perinuclear region of cytoplasm zinc ion binding 0 Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125) TGCTGCCCAGCGGGGGGCTCC 0.652 NA 68 107 0 0 0 0 INPP5F 22876 broad.mit.edu 37 10 121586186 121586186 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr10:121586186C>G uc001leo.2 + 20 2459 c.2293C>G c.(2293-2295)CAA>GAA p.Q765E INPP5F_uc001lep.2_Missense_Mutation_p.Q155E NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 765 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TATCAGGTCTCAAAACCAAGG 0.363 NA 18 254 0 0 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133948575 133948575 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr10:133948575C>T uc001lkx.3 + 4 880 c.880C>T c.(880-882)CGC>TGC p.R294C NM_001105521 NP_001098991 Janus kinase and microtubule interacting protein breast(1) 1 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) AGATGCCCGGCGCTTCCAGCT 0.502 NA 23 38 0 0 0 0 AMPD3 272 broad.mit.edu 37 11 10516545 10516545 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:10516545C>G uc001mio.1 + 8 1569 c.1234C>G c.(1234-1236)CTG>GTG p.L412V AMPD3_uc010rbz.1_Missense_Mutation_p.L253V|AMPD3_uc001min.1_Missense_Mutation_p.L421V|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.L419V|AMPD3_uc009yfy.2_Missense_Mutation_p.L412V NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 412 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGAAAACTATCTGGGAGGAGA 0.537 NA 5 243 0 0 0 0 CAT 847 broad.mit.edu 37 11 34470887 34470887 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:34470887G>C uc001mvm.2 + 2 298 c.215G>C c.(214-216)AGA>ACA p.R72T CAT_uc009ykc.1_RNA NM_001752 NP_001743 P04040 CATA_HUMAN catalase 72 hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection peroxisomal matrix|peroxisomal membrane catalase activity|heme binding|NADP binding|protein homodimerization activity ovary(2)|pancreas(1) 3 Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027) BRCA - Breast invasive adenocarcinoma(625;0.000995) Fomepizole(DB01213) ATTCCTGAGAGAGTTGTGCAT 0.438 NA 13 162 0 0 0 0 RAG1 5896 broad.mit.edu 37 11 36596040 36596040 + Missense_Mutation SNP C C T rs104894289 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:36596040C>T uc001mwu.3 + 2 1310 c.1186C>T c.(1186-1188)CGC>TGC p.R396C RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 396 NBD. R -> C (in OS).|R -> L (in OS).|R -> H (in OS). histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) GGGCCGGCCCCGCCAACATCT 0.483 NA Familial_Hemophagocytic_Lymphohistiocytosis 32 74 0 0 0 0 ANO1 55107 broad.mit.edu 37 11 70007338 70007338 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:70007338G>T uc001opj.2 + 17 1955 c.1650G>T c.(1648-1650)ATG>ATT p.M550I ANO1_uc001opk.1_Missense_Mutation_p.M492I|ANO1_uc001opl.1_RNA|ANO1_uc010rqk.1_Missense_Mutation_p.M259I NM_018043 NP_060513 Q5XXA6 ANO1_HUMAN anoctamin 1, calcium activated chloride channel 550 Extracellular (Potential). multicellular organismal development chloride channel complex|cytoplasm|plasma membrane intracellular calcium activated chloride channel activity ovary(1)|pancreas(1) 2 CCTTGGCCATGAACTCCTCCC 0.582 NA 22 44 8.1e-08 9.22e-08 1 0 EED 8726 broad.mit.edu 37 11 85977185 85977185 + Missense_Mutation SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:85977185T>C uc001pbp.2 + 8 1244 c.787T>C c.(787-789)TGG>CGG p.W263R EED_uc010rtm.1_Missense_Mutation_p.W263R|EED_uc001pbq.2_Missense_Mutation_p.W263R|EED_uc001pbr.2_Missense_Mutation_p.W263R|EED_uc001pbs.2_Intron|EED_uc010rtn.1_RNA NM_003797 NP_003788 O75530 EED_HUMAN embryonic ectoderm development isoform a 263 Interaction with EZH2 (By similarity).|WD 4.|Required for interaction with the matrix protein MA of HIV-1. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex histone methyltransferase activity|identical protein binding skin(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092) TCTTAAACTTTGGAGGATCAA 0.294 NA 5 76 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118375411 118375411 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:118375411C>G uc001pta.2 + 27 8818 c.8795C>G c.(8794-8796)TCT>TGT p.S2932C MLL_uc001ptb.2_Missense_Mutation_p.S2935C NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2932 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TCTGATCTGTCTGTCTTGACC 0.498 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 3 108 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118376025 118376025 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:118376025C>G uc001pta.2 + 27 9432 c.9409C>G c.(9409-9411)CCA>GCA p.P3137A MLL_uc001ptb.2_Missense_Mutation_p.P3140A NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3137 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AGGACTAAATCCAAGCTTGCC 0.468 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 7 168 0 0 0 0 MLL 4297 broad.mit.edu 37 11 118376147 118376147 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr11:118376147C>T uc001pta.2 + 27 9554 c.9531C>T c.(9529-9531)ATC>ATT p.I3177I MLL_uc001ptb.2_Silent_p.I3180I NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3177 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CACCAAACATCAGCAATCCTC 0.502 NA T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 4 128 0 0 0 0 COPS7A 50813 broad.mit.edu 37 12 6833912 6833912 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:6833912C>T uc001qqj.2 + 2 329 c.90C>T c.(88-90)CTC>CTT p.L30L COPS7A_uc009zex.2_RNA|COPS7A_uc001qqk.2_Silent_p.L30L|COPS7A_uc001qql.2_RNA|COPS7A_uc001qqh.2_Silent_p.L30L|COPS7A_uc001qqi.2_Silent_p.L30L|COPS7A_uc001qqm.2_RNA|COPS7A_uc001qqn.3_Silent_p.L30L|COPS7A_uc001qqo.2_Silent_p.L30L NM_001164094 NP_001157566 Q9UBW8 CSN7A_HUMAN COP9 complex subunit 7a 30 cullin deneddylation cytoplasm|signalosome ovary(1) 1 TGGCCACACTCATCCATCAGG 0.572 NA 6 99 0 0 0 0 KIAA1467 57613 broad.mit.edu 37 12 13224219 13224219 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:13224219C>T uc001rbi.2 + 10 1436 c.1413C>T c.(1411-1413)TAC>TAT p.Y471Y KIAA1467_uc009zhx.1_RNA NM_020853 NP_065904 A2RU67 K1467_HUMAN hypothetical protein LOC57613 471 integral to membrane central_nervous_system(2)|skin(1) 3 Prostate(47;0.184) BRCA - Breast invasive adenocarcinoma(232;0.157) TTTGGAGTTACCGTGCTCCGT 0.512 NA 6 132 0 0 0 0 SYT10 341359 broad.mit.edu 37 12 33560277 33560277 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:33560277C>T uc001rll.1 - 3 821 c.524G>A c.(523-525)CGA>CAA p.R175Q SYT10_uc009zju.1_5'UTR NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 175 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CAGGTGTCTTCGGAAGGAACT 0.438 NA 5 166 0 0 0 0 ALG10 84920 broad.mit.edu 37 12 34179707 34179707 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:34179707C>G uc001rlm.2 + 3 1598 c.1279C>G c.(1279-1281)CTT>GTT p.L427V NM_032834 NP_116223 Q5BKT4 AG10A_HUMAN asparagine-linked glycosylation 10 homolog 427 Extracellular (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity skin(1) 1 Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429) Lung NSC(34;0.204)|all_lung(34;0.235) CATTTATAGGCTTAACATACC 0.338 NA 116 201 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49443899 49443899 + Nonsense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:49443899C>A uc001rta.3 - 11 3472 c.3472G>T c.(3472-3474)GAG>TAG p.E1158* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1158 Pro-rich. 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 GCCAGCTCCTCGGGGTCCAGG 0.602 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 47 87 2.08e-19 2.47e-19 1 0 TROAP 10024 broad.mit.edu 37 12 49719906 49719906 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:49719906C>T uc001rtx.3 + 6 848 c.681C>T c.(679-681)TTC>TTT p.F227F TROAP_uc009zlh.2_Silent_p.F227F|TROAP_uc001rty.2_5'Flank NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 227 cell adhesion cytoplasm ovary(1) 1 GCCCCAGTTTCCAGGAGCTAA 0.527 NA 8 243 0 0 0 0 PAN2 9924 broad.mit.edu 37 12 56717884 56717884 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:56717884C>T uc001skx.2 - 13 2387 c.2014G>A c.(2014-2016)GAG>AAG p.E672K PAN2_uc001skw.2_5'UTR|PAN2_uc001skz.2_Missense_Mutation_p.E671K|PAN2_uc001sky.2_Missense_Mutation_p.E672K NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 672 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CGCACGGTCTCACTGCCACAG 0.542 NA 5 135 0 0 0 0 XPOT 11260 broad.mit.edu 37 12 64818958 64818958 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:64818958G>T uc001ssb.2 + 13 1874 c.1448G>T c.(1447-1449)CGA>CTA p.R483L NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 483 Necessary for tRNA-binding, cytoplasmic localization and nuclear export. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) GATATGATGCGAACTGTAAGT 0.358 NA 7 215 1.77e-08 2.02e-08 1 0 GRIP1 23426 broad.mit.edu 37 12 66742828 66742828 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:66742828C>T uc001stk.2 - 24 3443 c.3202G>A c.(3202-3204)GAG>AAG p.E1068K GRIP1_uc001stj.2_Missense_Mutation_p.E835K NM_021150 NP_066973 Q9Y3R0 GRIP1_HUMAN glutamate receptor interacting protein 1 1120 androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity ovary(2) 2 GBM - Glioblastoma multiforme(2;0.00069) GBM - Glioblastoma multiforme(28;0.0933) TCTCGTGTCTCCAAATTACCA 0.408 NA 29 332 0 0 0 0 ACSS3 79611 broad.mit.edu 37 12 81532986 81532986 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:81532986C>A uc001szl.1 + 4 813 c.722C>A c.(721-723)GCG>GAG p.A241E ACSS3_uc001szm.1_Missense_Mutation_p.A240E NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 241 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 GTAGAAGAAGCGCTAAAAATA 0.353 NA 48 69 2.29e-23 2.73e-23 1 0 RASSF9 9182 broad.mit.edu 37 12 86199550 86199550 + Missense_Mutation SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:86199550T>C uc001taf.1 - 2 577 c.238A>G c.(238-240)ATA>GTA p.I80V NM_005447 NP_005438 O75901 RASF9_HUMAN Ras association (RalGDS/AF-6) domain family 80 Ras-associating. endosome transport|protein targeting|signal transduction cytosol|endosome|trans-Golgi network transport vesicle membrane protein binding|transporter activity ovary(1) 1 CACTTCTCTATGATGCAGTAA 0.488 NA 71 87 0 0 0 0 SPPL3 121665 broad.mit.edu 37 12 121206202 121206202 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr12:121206202C>T uc001tzd.2 - 8 1180 c.699G>A c.(697-699)CGG>CGA p.R233R SPPL3_uc009zwz.2_Silent_p.R226R|SPPL3_uc001tzc.2_Silent_p.R63R NM_139015 NP_620584 Q8TCT6 PSL4_HUMAN signal peptide peptidase 3 234 integral to membrane aspartic-type endopeptidase activity 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGTGGAGCTTCCGGGATAGAA 0.542 NA 6 237 0 0 0 0 HSPH1 10808 broad.mit.edu 37 13 31712628 31712628 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr13:31712628C>G uc001utj.2 - 17 2684 c.2286G>C c.(2284-2286)ATG>ATC p.M762I HSPH1_uc001utk.2_Missense_Mutation_p.M718I|HSPH1_uc010aaw.2_Missense_Mutation_p.M721I|HSPH1_uc001utl.2_Missense_Mutation_p.M764I|HSPH1_uc010tds.1_Missense_Mutation_p.M686I NM_006644 NP_006635 Q92598 HS105_HUMAN heat shock 105kD 762 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding 0 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) TGACATTATTCATCCATTCCA 0.358 NA 6 234 0 0 0 0 NBEA 26960 broad.mit.edu 37 13 36241642 36241642 + Nonsense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr13:36241642C>T uc001uvb.2 + 56 8739 c.8533C>T c.(8533-8535)CGA>TGA p.R2845* NBEA_uc010abi.2_Nonsense_Mutation_p.R1503*|NBEA_uc010tef.1_Nonsense_Mutation_p.R638*|NBEA_uc001uvd.2_Nonsense_Mutation_p.R423* NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2845 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGAACGAGGGCGATTCAGTAA 0.428 NA 28 185 0 0 0 0 SPG20 23111 broad.mit.edu 37 13 36909222 36909222 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr13:36909222C>T uc001uvn.2 - 3 1016 c.746G>A c.(745-747)CGA>CAA p.R249Q SPG20_uc010ten.1_Missense_Mutation_p.R249Q|SPG20_uc001uvm.2_Missense_Mutation_p.R249Q|SPG20_uc001uvo.2_Missense_Mutation_p.R249Q|SPG20_uc001uvq.2_Missense_Mutation_p.R249Q|SPG20_uc001uvp.2_Missense_Mutation_p.R249Q NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 249 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CCTCACAATTCGAAGGTACCC 0.398 NA 4 164 0 0 0 0 ELF1 1997 broad.mit.edu 37 13 41533074 41533074 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr13:41533074G>C uc001uxs.2 - 3 524 c.151C>G c.(151-153)CTA>GTA p.L51V ELF1_uc010tfc.1_Missense_Mutation_p.L51V|ELF1_uc010acd.2_5'UTR NM_172373 NP_758961 P32519 ELF1_HUMAN E74-like factor 1 (ets domain transcription 51 positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367) all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072) ACACAGGCTAGACCGGCATAA 0.453 NA 42 71 0 0 0 0 KIAA0391 9692 broad.mit.edu 37 14 35592848 35592848 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr14:35592848G>C uc001wsy.1 + 2 757 c.397G>C c.(397-399)GAA>CAA p.E133Q KIAA0391_uc010tps.1_Missense_Mutation_p.E38Q|KIAA0391_uc001wsz.1_Missense_Mutation_p.E133Q|KIAA0391_uc001wta.2_RNA|KIAA0391_uc001wtb.1_Missense_Mutation_p.E133Q|KIAA0391_uc001wtc.1_Intron|PPP2R3C_uc001wss.2_5'Flank|PPP2R3C_uc001wst.2_5'Flank|PPP2R3C_uc010tpr.1_5'Flank|PPP2R3C_uc001wsu.2_5'Flank|PPP2R3C_uc010amn.1_5'Flank|PPP2R3C_uc001wsw.2_5'Flank|PPP2R3C_uc001wsx.1_5'Flank NM_014672 NP_055487 O15091 MRRP3_HUMAN mitochondrial RNase P protein 3 precursor 133 tRNA processing mitochondrion 0 Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184) Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277) GBM - Glioblastoma multiforme(112;0.0593) AGATTTAAAAGAAAACACCGG 0.433 NA 3 102 0 0 0 0 PYGL 5836 broad.mit.edu 37 14 51398432 51398432 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr14:51398432C>T uc001wyu.2 - 4 614 c.487G>A c.(487-489)GAA>AAA p.E163K PYGL_uc010tqq.1_Missense_Mutation_p.E129K|PYGL_uc001wyv.2_5'UTR|PYGL_uc001wyw.3_Missense_Mutation_p.E163K NM_002863 NP_002854 P06737 PYGL_HUMAN liver glycogen phosphorylase isoform 1 163 glucose homeostasis|glucose metabolic process|glycogen catabolic process cytosol|soluble fraction AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding skin(1) 1 all_epithelial(31;0.00825)|Breast(41;0.148) Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140) ATCCCATATTCATACCGAATG 0.438 NA 4 200 0 0 0 0 EIF2S1 1965 broad.mit.edu 37 14 67831504 67831504 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr14:67831504G>C uc001xjg.2 + 2 161 c.20G>C c.(19-21)AGA>ACA p.R7T NM_004094 NP_004085 P05198 IF2A_HUMAN eukaryotic translation initiation factor 2, 7 cytosol|eukaryotic translation initiation factor 2 complex|polysome|stress granule protein binding|ribosome binding|translation initiation factor activity ovary(1) 1 all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937) ctaagttgtagattttatcaa 0.234 NA 3 151 0 0 0 0 ADAM20 8748 broad.mit.edu 37 14 70989722 70989722 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr14:70989722G>A uc001xme.2 - 2 2148 c.1903C>T c.(1903-1905)CAC>TAC p.H635Y NM_003814 NP_003805 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 preproprotein 585 Cys-rich.|Extracellular (Potential). proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TCATTGAGGTGAAACTGCTGC 0.443 NA 6 139 0 0 0 0 NRXN3 9369 broad.mit.edu 37 14 80130147 80130147 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr14:80130147C>A uc001xun.2 + 14 2843 c.2352C>A c.(2350-2352)TTC>TTA p.F784L NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.F152L|NRXN3_uc010asw.2_Missense_Mutation_p.F152L|NRXN3_uc001xur.3_Missense_Mutation_p.F152L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1157 Extracellular (Potential).|Laminin G-like 6. axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAGTTGTCTTCAACATTGGCA 0.448 NA 21 29 1.28e-07 1.46e-07 1 0 UBE3A 7337 broad.mit.edu 37 15 25616832 25616832 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:25616832G>T uc001zaq.2 - 4 498 c.498C>A c.(496-498)AGC>AGA p.S166R uc001zae.2_Intron|UBE3A_uc001zar.2_Missense_Mutation_p.S143R|UBE3A_uc001zas.2_Missense_Mutation_p.S163R|UBE3A_uc001zat.2_Missense_Mutation_p.S143R NM_000462 NP_000453 Q05086 UBE3A_HUMAN ubiquitin protein ligase E3A isoform 2 166 brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus|proteasome complex protein binding|ubiquitin-protein ligase activity upper_aerodigestive_tract(1)|ovary(1)|breast(1) 3 all_cancers(20;3.47e-21)|Breast(32;0.00123) all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616) CTTTCCGGAAGCTCTGTACCA 0.363 NA 70 106 7.07e-35 8.53e-35 1 0 EIF2AK4 440275 broad.mit.edu 37 15 40241351 40241351 + Nonsense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:40241351C>G uc001zkm.1 + 4 445 c.395C>G c.(394-396)TCA>TGA p.S132* EIF2AK4_uc001zkl.2_Nonsense_Mutation_p.S132* NM_001013703 NP_001013725 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha 132 RWD. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity lung(2)|stomach(1)|skin(1) 4 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) CACGTGCAGTCATTTCTCAGC 0.478 NA 21 320 0 0 0 0 MEGF11 84465 broad.mit.edu 37 15 66190400 66190400 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:66190400C>T uc002apm.2 - 23 3148 c.3007G>A c.(3007-3009)GGT>AGT p.G1003S MEGF11_uc002apl.2_Missense_Mutation_p.G928S NM_032445 NP_115821 A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 precursor 1003 basolateral plasma membrane|integral to membrane pancreas(1) 1 GAGTTATGACCGCAACCTTCT 0.458 NA 29 46 0 0 0 0 HCN4 10021 broad.mit.edu 37 15 73622066 73622066 + Missense_Mutation SNP C C T rs121908411 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:73622066C>T uc002avp.2 - 4 2432 c.1438G>A c.(1438-1440)GGC>AGC p.G480S NM_005477 NP_005468 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic 480 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity ovary(5)|liver(1) 6 COAD - Colon adenocarcinoma(1;0.142) CGCCCGTAGCCGATGCACAGC 0.622 NA 34 35 0 0 0 0 MAN2C1 4123 broad.mit.edu 37 15 75655014 75655014 + Missense_Mutation SNP C C T rs149884810 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:75655014C>T uc002baf.2 - 7 883 c.866G>A c.(865-867)CGG>CAG p.R289Q MAN2C1_uc002bag.2_Missense_Mutation_p.R289Q|MAN2C1_uc002bah.2_Missense_Mutation_p.R289Q|MAN2C1_uc010bkk.2_Intron|MAN2C1_uc010umi.1_Missense_Mutation_p.R71Q|MAN2C1_uc010umj.1_RNA NM_006715 NP_006706 Q9NTJ4 MA2C1_HUMAN mannosidase, alpha, class 2C, member 1 289 mannose metabolic process alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding 0 CTCAGGGTTCCGCTCCATGAG 0.622 NA 12 54 0 0 0 0 NRG4 145957 broad.mit.edu 37 15 76254257 76254257 + Missense_Mutation SNP T T A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:76254257T>A uc002bbo.2 - 4 347 c.163A>T c.(163-165)ATC>TTC p.I55F NRG4_uc010bkm.1_RNA|NRG4_uc002bbn.2_RNA|NRG4_uc010bkn.2_RNA|NRG4_uc010bko.2_RNA|NRG4_uc002bbp.2_RNA NM_138573 NP_612640 Q8WWG1 NRG4_HUMAN neuregulin 4 55 Extracellular (Potential). extracellular region|integral to membrane|plasma membrane growth factor activity 0 TTAGTTTGGATGCTGGAGCCT 0.388 NA 80 108 0 0 0 0 MAN2A2 4122 broad.mit.edu 37 15 91454654 91454654 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr15:91454654C>T uc010bnz.2 + 14 2098 c.1983C>T c.(1981-1983)TTC>TTT p.F661F MAN2A2_uc002bqc.2_Silent_p.F661F|MAN2A2_uc010uql.1_Silent_p.F323F|MAN2A2_uc010uqm.1_Silent_p.F240F|MAN2A2_uc010uqn.1_5'Flank NM_006122 NP_006113 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 661 Lumenal (Potential). mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) AGGAGCGATTCAGCATGGTGT 0.627 NA 36 102 0 0 0 0 DNASE1L2 1775 broad.mit.edu 37 16 2288404 2288404 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:2288404C>T uc002cpo.2 + 6 1279 c.885C>T c.(883-885)CTC>CTT p.L295L DNASE1L2_uc002cpn.2_Silent_p.L274L|DNASE1L2_uc002cpp.2_Silent_p.L295L|DNASE1L2_uc002cpq.2_Silent_p.L295L NM_001374 NP_001365 Q92874 DNSL2_HUMAN deoxyribonuclease I-like 2 precursor 295 DNA catabolic process extracellular region calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters|protein binding 0 AGGTGACCCTCAAGTTCCACC 0.637 NA 5 153 0 0 0 0 ACSM2A 123876 broad.mit.edu 37 16 20489931 20489931 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:20489931G>A uc010bwe.2 + 11 1452 c.1213G>A c.(1213-1215)GGC>AGC p.G405S ACSM2A_uc010vax.1_Missense_Mutation_p.G326S|ACSM2A_uc002dhf.3_Missense_Mutation_p.G405S|ACSM2A_uc002dhg.3_Missense_Mutation_p.G405S|ACSM2A_uc010vay.1_Missense_Mutation_p.G326S|ACSM2A_uc002dhh.3_Missense_Mutation_p.G35S NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 405 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding skin(2)|breast(1) 3 CCTGCCCCCCGGCACAGAAGG 0.512 NA 30 81 0 0 0 0 ACSM3 6296 broad.mit.edu 37 16 20808211 20808211 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:20808211G>C uc002dhr.2 + 14 1865 c.1678G>C c.(1678-1680)GAA>CAA p.E560Q ERI2_uc002dht.3_3'UTR|ACSM3_uc010vba.1_Missense_Mutation_p.E589Q|ERI2_uc002dhs.2_Intron|ERI2_uc010vbb.1_3'UTR|ERI2_uc010bwh.2_3'UTR|ERI2_uc010vbc.1_3'UTR|ERI2_uc002dhu.1_3'UTR NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 560 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 CCAACAGGTAGAATTTATTCA 0.323 NA 3 91 0 0 0 0 POLR3E 55718 broad.mit.edu 37 16 22344979 22344979 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:22344979C>T uc002dkk.2 + 21 2241 c.2085C>T c.(2083-2085)AGC>AGT p.S695S POLR3E_uc002dkm.2_Silent_p.S659S|POLR3E_uc010vbr.1_Silent_p.S674S|POLR3E_uc002dkl.2_Silent_p.S653S|POLR3E_uc010vbs.1_Silent_p.S659S|POLR3E_uc010vbt.1_Silent_p.S639S NM_018119 NP_060589 Q9NVU0 RPC5_HUMAN RNA polymerase III polypeptide E 695 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(48;0.012) GCTGTGTAAGCTATGGTGGCA 0.433 NA 33 58 0 0 0 0 CLN3 1201 broad.mit.edu 37 16 28498849 28498849 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:28498849C>T uc002dpo.2 - 6 711 c.388G>A c.(388-390)GTC>ATC p.V130I uc010vct.1_Intron|CLN3_uc002dpl.2_Missense_Mutation_p.V52I|CLN3_uc010vcu.1_Missense_Mutation_p.V30I|CLN3_uc002dpn.2_Missense_Mutation_p.R103H|CLN3_uc002dpm.2_Missense_Mutation_p.V76I|CLN3_uc010vcv.1_Missense_Mutation_p.V106I|CLN3_uc010byd.2_Missense_Mutation_p.V130I|CLN3_uc002dpp.2_Missense_Mutation_p.V130I|CLN3_uc002dpt.1_Missense_Mutation_p.V30I|CLN3_uc002dpq.1_Missense_Mutation_p.V130I|CLN3_uc010bye.1_Missense_Mutation_p.V130I|CLN3_uc002dpr.1_RNA|CLN3_uc010byf.1_RNA|CLN3_uc002dps.1_Missense_Mutation_p.R75H|CLN3_uc002dpu.1_Missense_Mutation_p.V76I|CLN3_uc002dpw.1_Missense_Mutation_p.R49H|CLN3_uc010vcw.1_Missense_Mutation_p.V76I|CLN3_uc002dqa.2_Missense_Mutation_p.V181I|CLN3_uc010vcx.1_Missense_Mutation_p.V30I|CLN3_uc002dpx.1_Missense_Mutation_p.R79H|CLN3_uc002dpy.1_Missense_Mutation_p.R46H|CLN3_uc002dpz.1_RNA NM_000086 NP_000077 Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 130 Helical; (Potential). amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding 0 ATCCCACTGACGAGAACCCGG 0.587 NA 18 31 0 0 0 0 CDH5 1003 broad.mit.edu 37 16 66430060 66430060 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:66430060C>T uc002eom.3 + 8 1472 c.1316C>T c.(1315-1317)CCC>CTC p.P439L NM_001795 NP_001786 P33151 CADH5_HUMAN cadherin 5, type 2 preproprotein 439 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding ovary(2)|lung(2)|central_nervous_system(1)|skin(1) 6 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) GAAGTCTACCCCTGGTATAAC 0.498 NA 39 78 0 0 0 0 NFATC3 4775 broad.mit.edu 37 16 68224779 68224779 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:68224779C>T uc002evo.1 + 9 2417 c.2207C>T c.(2206-2208)TCA>TTA p.S736L NFATC3_uc010vkl.1_Missense_Mutation_p.S257L|NFATC3_uc010vkm.1_Missense_Mutation_p.S257L|NFATC3_uc010vkn.1_Missense_Mutation_p.S257L|NFATC3_uc010vko.1_Missense_Mutation_p.S257L|NFATC3_uc010vkp.1_Missense_Mutation_p.S257L|NFATC3_uc010vkq.1_Missense_Mutation_p.S257L|NFATC3_uc002evl.2_Missense_Mutation_p.S257L|NFATC3_uc002evk.2_Missense_Mutation_p.S736L|NFATC3_uc002evm.1_Missense_Mutation_p.S736L|NFATC3_uc002evn.1_Missense_Mutation_p.S736L|NFATC3_uc010vkr.1_Missense_Mutation_p.S257L|NFATC3_uc010vks.1_Missense_Mutation_p.S257L|NFATC3_uc010vkt.1_Missense_Mutation_p.S257L|NFATC3_uc010vku.1_Missense_Mutation_p.S257L|NFATC3_uc010vkv.1_Missense_Mutation_p.S257L|NFATC3_uc010vkw.1_Missense_Mutation_p.S257L|NFATC3_uc010vkx.1_Missense_Mutation_p.S257L|NFATC3_uc010vky.1_Missense_Mutation_p.S257L|NFATC3_uc010vkz.1_Missense_Mutation_p.S257L|NFATC3_uc010vla.1_Missense_Mutation_p.S257L|NFATC3_uc010vlb.1_Missense_Mutation_p.S257L|NFATC3_uc010vlc.1_Missense_Mutation_p.S257L NM_173165 NP_775188 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, 736 inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) TCAGGGTGTTCACATGACAGT 0.478 NA 9 137 0 0 0 0 CHST6 4166 broad.mit.edu 37 16 75512968 75512968 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:75512968G>A uc002fef.2 - 3 939 c.759C>T c.(757-759)GCC>GCT p.A253A CHST6_uc002feg.1_RNA|CHST6_uc002feh.1_Silent_p.A253A NM_021615 NP_067628 Q9GZX3 CHST6_HUMAN carbohydrate (N-acetylglucosamine 6-O) 253 Lumenal (Potential). keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process Golgi membrane|integral to membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 TGGCGGCCTCGGCGATGCGTA 0.716 NA 22 33 0 0 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465305 77465305 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:77465305C>G uc002ffc.3 - 3 801 c.382G>C c.(382-384)GGA>CGA p.G128R ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_RNA NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 128 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CCATCTTTTCCAAGTACCTGG 0.473 NA 4 205 0 0 0 0 CLEC3A 10143 broad.mit.edu 37 16 78064472 78064472 + Nonsense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr16:78064472G>T uc002ffh.3 + 3 409 c.328G>T c.(328-330)GAA>TAA p.E110* NM_005752 NP_005743 O75596 CLC3A_HUMAN C-type lectin domain family 3 member A 110 C-type lectin. skeletal system development extracellular region sugar binding 0 GAACTCCGACGAAATCAACGC 0.478 NA 47 84 8.21e-20 9.75e-20 1 0 PLD2 5338 broad.mit.edu 37 17 4713248 4713248 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:4713248G>A uc002fzc.2 + 9 885 c.784G>A c.(784-786)GAC>AAC p.D262N PLD2_uc010vsj.1_Missense_Mutation_p.D119N|PLD2_uc002fzd.2_Missense_Mutation_p.D262N NM_002663 NP_002654 O14939 PLD2_HUMAN phospholipase D2 262 PH. cell communication|cytoskeleton organization|small GTPase mediated signal transduction NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 5 Choline(DB00122) TCAGCTCTTTGACCCTGGCTT 0.592 NA 5 148 0 0 0 0 NLRP1 22861 broad.mit.edu 37 17 5418344 5418344 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:5418344C>A uc002gci.2 - 17 4707 c.4152G>T c.(4150-4152)CAG>CAT p.Q1384H NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Missense_Mutation_p.Q1340H|NLRP1_uc002gcj.2_Missense_Mutation_p.Q1354H|NLRP1_uc002gcl.2_Missense_Mutation_p.Q1310H|NLRP1_uc002gch.3_Missense_Mutation_p.Q1340H NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1384 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) GCTCTCGATACTGGTCCACAA 0.582 NA 21 37 8.1e-08 9.22e-08 1 0 C17orf75 64149 broad.mit.edu 37 17 30668260 30668260 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:30668260C>T uc002hhg.2 - 2 215 c.184G>A c.(184-186)GGC>AGC p.G62S NM_022344 NP_071739 Q9HAS0 NJMU_HUMAN hypothetical protein LOC64149 62 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) GCATTTGTGCCACTTGGGCTT 0.463 NA 8 241 0 0 0 0 RFFL 117584 broad.mit.edu 37 17 33343399 33343399 + Silent SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:33343399G>C uc002hin.1 - 5 1049 c.876C>G c.(874-876)CTC>CTG p.L292L RFFL_uc002hiq.2_Silent_p.L209L|RFFL_uc002him.1_Silent_p.L292L|RFFL_uc010cti.1_Silent_p.L298L|RFFL_uc002hip.1_Silent_p.L264L|RFFL_uc002hio.1_Silent_p.L292L NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN rififylin 292 apoptosis membrane ligase activity|zinc ion binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CCAGGTGCTGGAGTCCTTTCT 0.502 NA 3 209 0 0 0 0 RASL10B 91608 broad.mit.edu 37 17 34068186 34068186 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:34068186C>T uc002hju.2 + 4 840 c.474C>T c.(472-474)TGC>TGT p.C158C NM_033315 NP_201572 Q96S79 RSLAB_HUMAN RAS-like, family 10, member B precursor 158 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity lung(2)|breast(2) 4 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) ACGTGGAATGCTCGGCCAAGT 0.647 NA 22 45 0 0 0 0 NSF 4905 broad.mit.edu 37 17 44770362 44770362 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:44770362C>G uc002iku.2 + 10 1143 c.1039C>G c.(1039-1041)CAT>GAT p.H347D NSF_uc010wke.1_Missense_Mutation_p.H253D|NSF_uc010wkf.1_Missense_Mutation_p.H253D|NSF_uc010wkg.1_Missense_Mutation_p.H342D NM_006178 NP_006169 P46459 NSF_HUMAN vesicle-fusing ATPase 347 protein transport|synaptic transmission cytosol ATP binding|metal ion binding ovary(1) 1 Melanoma(429;0.203) BRCA - Breast invasive adenocarcinoma(9;0.0257) BRCA - Breast invasive adenocarcinoma(366;0.241) CACGGGAGTTCATGACACTGT 0.423 NA 3 106 0 0 0 0 TRIM37 4591 broad.mit.edu 37 17 57165711 57165711 + Silent SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:57165711T>C uc002iwy.3 - 4 666 c.222A>G c.(220-222)CAA>CAG p.Q74Q TRIM37_uc002iwz.3_Silent_p.Q74Q|TRIM37_uc002ixa.3_5'UTR|TRIM37_uc010woc.1_Silent_p.Q40Q NM_001005207 NP_001005207 O94972 TRI37_HUMAN tripartite motif-containing 37 protein 74 perinuclear region of cytoplasm|peroxisome ligase activity|protein binding|zinc ion binding lung(2)|pancreas(2)|ovary(1)|skin(1)|breast(1) 7 Medulloblastoma(34;0.0922)|all_neural(34;0.101) TATCAAGCTGTTGTGTTACTT 0.383 NA Mulibrey_Nanism 22 29 0 0 0 0 GNA13 10672 broad.mit.edu 37 17 63010430 63010430 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:63010430C>A uc002jfc.2 - 4 1288 c.1079G>T c.(1078-1080)CGT>CTT p.R360L GNA13_uc010wqh.1_Missense_Mutation_p.R265L NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 360 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 CTTCACGTCACGGAAAACAAG 0.443 NA 3 97 0.004672 0.00500704 1 0 SSTR2 6752 broad.mit.edu 37 17 71166310 71166310 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr17:71166310C>T uc002jje.2 + 2 1212 c.852C>T c.(850-852)ATC>ATT p.I284I NM_001050 NP_001041 P30874 SSR2_HUMAN somatostatin receptor 2 284 Extracellular (Potential). digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity 0 LUSC - Lung squamous cell carcinoma(166;0.197) CCATGGCCATCAGCCCCACCC 0.507 NA 5 199 0 0 0 0 NOL4 8715 broad.mit.edu 37 18 31538327 31538327 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr18:31538327C>T uc010dmi.2 - 7 1341 c.1112G>A c.(1111-1113)CGA>CAA p.R371Q NOL4_uc010xbs.1_Missense_Mutation_p.R86Q|NOL4_uc002kxr.3_Missense_Mutation_p.R207Q|NOL4_uc010xbt.1_Missense_Mutation_p.R297Q|NOL4_uc010dmh.2_Missense_Mutation_p.R297Q|NOL4_uc010xbu.1_Missense_Mutation_p.R371Q|NOL4_uc002kxt.3_Missense_Mutation_p.R371Q|NOL4_uc010xbv.1_Missense_Mutation_p.R120Q|NOL4_uc010xbw.1_Missense_Mutation_p.R257Q NM_003787 NP_003778 O94818 NOL4_HUMAN nucleolar protein 4 371 nucleolus RNA binding ovary(3) 3 CTCAGCTCCTCGGTCTACACT 0.453 NA 11 351 0 0 0 0 MBD1 4152 broad.mit.edu 37 18 47799971 47799971 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr18:47799971G>A uc010dow.1 - 12 1846 c.1409C>T c.(1408-1410)CCG>CTG p.P470L MBD1_uc002lef.2_Missense_Mutation_p.P221L|MBD1_uc002leg.2_Missense_Mutation_p.P420L|MBD1_uc010xdi.1_Missense_Mutation_p.P521L|MBD1_uc002leh.3_Missense_Mutation_p.P414L|MBD1_uc002len.2_Missense_Mutation_p.P470L|MBD1_uc002lei.3_Missense_Mutation_p.P470L|MBD1_uc002lej.3_Missense_Mutation_p.P414L|MBD1_uc002lek.3_Missense_Mutation_p.P421L|MBD1_uc002lel.3_Missense_Mutation_p.P447L|MBD1_uc002lem.3_Missense_Mutation_p.P470L|MBD1_uc010xdj.1_Missense_Mutation_p.P414L|MBD1_uc010xdk.1_Missense_Mutation_p.P495L|MBD1_uc010dox.1_Missense_Mutation_p.P447L|MBD1_uc002leo.2_Missense_Mutation_p.P470L NM_015846 NP_056671 Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 isoform 1 470 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 AACAGGGCCCGGCACCTGCAC 0.637 NA 28 32 0 0 0 0 CXXC1 30827 broad.mit.edu 37 18 47812188 47812188 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr18:47812188C>T uc002leq.3 - 5 1303 c.570G>A c.(568-570)ATG>ATA p.M190I CXXC1_uc002lep.3_Missense_Mutation_p.M47I|CXXC1_uc002ler.3_Missense_Mutation_p.M190I|CXXC1_uc010doy.2_Missense_Mutation_p.M190I|CXXC1_uc002les.2_Missense_Mutation_p.M190I NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 190 CXXC-type. histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CGAACTTCTTCATGTCCCGAC 0.577 NA 61 104 0 0 0 0 SALL3 27164 broad.mit.edu 37 18 76754440 76754440 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr18:76754440G>A uc002lmt.2 + 2 2449 c.2449G>A c.(2449-2451)GAC>AAC p.D817N SALL3_uc010dra.2_Missense_Mutation_p.D424N NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 817 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CGCGGCCACCGACCCGGCCAA 0.642 NA 14 12 0 0 0 0 C18orf22 79863 broad.mit.edu 37 18 77806103 77806103 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr18:77806103G>A uc002lns.2 + 7 1118 c.980G>A c.(979-981)AGA>AAA p.R327K C18orf22_uc010drh.2_3'UTR|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.R160K|uc002lnu.2_5'Flank NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 327 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) GAGGCAGAGAGAGGAGGTGGC 0.582 NA 3 48 0 0 0 0 C18orf22 79863 broad.mit.edu 37 18 77806105 77806105 + Missense_Mutation SNP G G A rs138311529 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr18:77806105G>A uc002lns.2 + 7 1120 c.982G>A c.(982-984)GGA>AGA p.G328R C18orf22_uc010drh.2_3'UTR|C18orf22_uc010dri.1_Intron|C18orf22_uc002lnt.2_Missense_Mutation_p.G161R|uc002lnu.2_5'Flank NM_024805 NP_079081 Q8N0V3 RBFA_HUMAN hypothetical protein LOC79863 precursor 328 rRNA processing mitochondrion 0 all_cancers(4;3.21e-14)|all_epithelial(4;7.11e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0545)|all_hematologic(56;0.15)|Melanoma(33;0.2) OV - Ovarian serous cystadenocarcinoma(15;6.46e-08)|BRCA - Breast invasive adenocarcinoma(31;0.00376) GGCAGAGAGAGGAGGTGGCAG 0.587 NA 3 49 0 0 0 0 DOT1L 84444 broad.mit.edu 37 19 2213555 2213555 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:2213555C>T uc002lvb.3 + 17 1611 c.1575C>T c.(1573-1575)CTC>CTT p.L525L DOT1L_uc002lvc.1_5'UTR|uc002lvd.1_RNA|DOT1L_uc002lve.1_5'Flank NM_032482 NP_115871 Q8TEK3 DOT1L_HUMAN DOT1-like, histone H3 methyltransferase 525 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCCCAGCTCCTGGGTGCGG 0.617 NA 24 21 0 0 0 0 ZNF136 7695 broad.mit.edu 37 19 12296616 12296616 + Missense_Mutation SNP A A G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:12296616A>G uc002mti.2 + 2 120 c.20A>G c.(19-21)GAG>GGG p.E7G ZNF136_uc010xmh.1_Intron NM_003437 NP_003428 P52737 ZN136_HUMAN zinc finger protein 136 7 KRAB. negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|pancreas(1) 2 GTGGCTTTTGAGGATGTAGAT 0.483 NA 3 99 0 0 0 0 F2RL3 9002 broad.mit.edu 37 19 17001171 17001171 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:17001171C>A uc002nfa.2 + 2 1072 c.897C>A c.(895-897)AGC>AGA p.S299R NM_003950 NP_003941 Q96RI0 PAR4_HUMAN coagulation factor II (thrombin) receptor-like 3 299 Helical; Name=6; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol extracellular region|integral to plasma membrane thrombin receptor activity 0 TCGTGCCCAGCAACCTGCTGC 0.701 NA 9 8 0.000274275 0.000298704 1 0 MAP1S 55201 broad.mit.edu 37 19 17845129 17845129 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:17845129C>T uc002nhe.1 + 7 3081 c.3072C>T c.(3070-3072)TAC>TAT p.Y1024Y MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_Silent_p.Y272Y|MAP1S_uc010xpv.1_Silent_p.Y998Y NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 1024 Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 ATACGTGGTACGCAGAGACGC 0.657 NA 21 52 0 0 0 0 ZNF676 163223 broad.mit.edu 37 19 22363197 22363197 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:22363197C>T uc002nqs.1 - 3 1640 c.1322G>A c.(1321-1323)AGA>AAA p.R441K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN zinc finger protein 676 441 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AGCATGAATTCTCTTGTGTTC 0.438 NA 90 159 0 0 0 0 ZFP14 57677 broad.mit.edu 37 19 36853022 36853022 + Missense_Mutation SNP A A T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:36853022A>T uc002odx.1 - 2 221 c.128T>A c.(127-129)ATT>AAT p.I43N ZFP14_uc010xtd.1_Missense_Mutation_p.I43N|ZFP14_uc010eex.1_Missense_Mutation_p.I43N NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN zinc finger protein 14-like 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.162) ACCTAGTGAAATGAAGTTGCT 0.378 NA 48 73 0 0 0 0 ZNF569 148266 broad.mit.edu 37 19 37903739 37903739 + Silent SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:37903739T>C uc002ogi.2 - 6 2379 c.1821A>G c.(1819-1821)GAA>GAG p.E607E ZNF569_uc002ogh.2_Silent_p.E448E|ZNF569_uc002ogj.2_Silent_p.E631E NM_152484 NP_689697 Q5MCW4 ZN569_HUMAN zinc finger protein 569 607 C2H2-type 16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|skin(1) 3 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) ATTTATTACATTCATAGGGTT 0.413 NA 83 149 0 0 0 0 LGALS4 3960 broad.mit.edu 37 19 39297125 39297125 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:39297125G>A uc002ojg.2 - 4 664 c.450C>T c.(448-450)ATC>ATT p.I150I LGALS4_uc010xuj.1_Silent_p.I150I NM_006149 NP_006140 P56470 LEG4_HUMAN galectin-4 150 Galectin 1. cell adhesion cytosol|plasma membrane sugar binding ovary(1)|skin(1) 2 all_cancers(60;1.02e-05)|Ovarian(47;0.0454) Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741) GCTGGCCTCCGATGAAGTTGA 0.488 NA 7 137 0 0 0 0 PSG7 5676 broad.mit.edu 37 19 43439678 43439678 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:43439678G>C uc002ovl.3 - 3 410 c.308C>G c.(307-309)TCC>TGC p.S103C PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 103 Ig-like V-type. female pregnancy extracellular region 0 Prostate(69;0.00682) GGATGCATTGGAATATACTGT 0.428 NA 6 611 0 0 0 0 QPCTL 54814 broad.mit.edu 37 19 46206184 46206184 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:46206184C>T uc010xxr.1 + 7 1247 c.1026C>T c.(1024-1026)ATC>ATT p.I342I QPCTL_uc010ekn.2_Silent_p.I248I NM_017659 NP_060129 Q9NXS2 QPCTL_HUMAN glutaminyl-peptide cyclotransferase-like isoform 342 peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis Golgi membrane|integral to membrane acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|protein binding|zinc ion binding skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208) TCCATCTCATCTCCACGCCCT 0.597 NA 30 226 0 0 0 0 ZNF468 90333 broad.mit.edu 37 19 53344519 53344519 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:53344519G>C uc002qaf.2 - 4 1179 c.1028C>G c.(1027-1029)GCA>GGA p.A343G ZNF468_uc002qae.2_Missense_Mutation_p.A290G NM_001008801 NP_001008801 Q5VIY5 ZN468_HUMAN zinc finger protein ZNF468 isoform 2 343 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0358) AGTATGTTTTGCCAGATATGA 0.378 NA 5 210 0 0 0 0 LILRA3 11026 broad.mit.edu 37 19 54803659 54803659 + Silent SNP C C T rs138979811 byFrequency TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:54803659C>T uc002qfd.2 - 3 230 c.165G>A c.(163-165)ACG>ACA p.T55T LILRA6_uc002qew.1_Intron|LILRA3_uc010erk.2_Silent_p.T55T NM_006865 NP_006856 Q8N6C8 LIRA3_HUMAN leukocyte immunoglobulin-like receptor, 55 Ig-like C2-type 1. defense response extracellular region|plasma membrane antigen binding|receptor activity ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTACTCCTGCGTCTCCAGGC 0.567 NA 11 97 0 0 0 0 NLRP2 55655 broad.mit.edu 37 19 55494891 55494891 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:55494891C>T uc002qij.2 + 6 1911 c.1825C>T c.(1825-1827)CTG>TTG p.L609L NLRP2_uc010yfp.1_Silent_p.L586L|NLRP2_uc010esn.2_Silent_p.L585L|NLRP2_uc010eso.2_Silent_p.L606L|NLRP2_uc010esp.2_Silent_p.L587L NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 609 apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) CCTCGGCTGTCTGTACGAGTC 0.507 NA 3 33 0 0 0 0 ZNF471 57573 broad.mit.edu 37 19 57037187 57037187 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:57037187C>T uc002qnh.2 + 5 1884 c.1751C>T c.(1750-1752)TCA>TTA p.S584L NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 584 C2H2-type 14. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) AGTGATAGCTCATCCTGTGCT 0.413 NA 16 105 0 0 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189827 58189827 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:58189827G>T uc002qpu.2 + 5 1553 c.856G>T c.(856-858)GCC>TCC p.A286S NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 286 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CCCTGAGTCTGCCCTTACCCA 0.483 NA 6 145 0.00116845 0.00125725 1 0 ZNF544 27300 broad.mit.edu 37 19 58772699 58772699 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr19:58772699G>A uc010euo.2 + 7 1201 c.727G>A c.(727-729)GAA>AAA p.E243K ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.1_Missense_Mutation_p.E215K|ZNF544_uc010yhy.1_Missense_Mutation_p.E215K|ZNF544_uc002qrt.3_Missense_Mutation_p.E101K|ZNF544_uc002qru.3_Missense_Mutation_p.E101K|uc002qrx.1_Intron NM_014480 NP_055295 Q6NX49 ZN544_HUMAN zinc finger protein 544 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) AAACCCTTATGAATATATTGT 0.388 NA 9 207 0 0 0 0 SLC3A1 6519 broad.mit.edu 37 2 44547602 44547602 + Missense_Mutation SNP G G A rs146303355 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:44547602G>A uc002ruc.3 + 10 1960 c.1882G>A c.(1882-1884)GAC>AAC p.D628N PREPL_uc002ruf.2_3'UTR|PREPL_uc002rug.2_3'UTR|PREPL_uc002ruh.2_3'UTR|PREPL_uc010fax.2_3'UTR|PREPL_uc002rui.3_3'UTR|PREPL_uc002ruj.1_3'UTR|PREPL_uc002ruk.1_3'UTR|SLC3A1_uc002rud.3_Missense_Mutation_p.D350N|SLC3A1_uc002rue.3_Missense_Mutation_p.D248N NM_000341 NP_000332 Q07837 SLC31_HUMAN solute carrier family 3, member 1 628 Extracellular (Potential). carbohydrate metabolic process|cellular amino acid metabolic process|ion transport integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity 0 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) L-Cystine(DB00138) CAATTCTGCCGACAAAGGCAG 0.413 NA 4 131 0 0 0 0 EPAS1 2034 broad.mit.edu 37 2 46583923 46583923 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:46583923C>T uc002ruv.2 + 4 918 c.430C>T c.(430-432)CGT>TGT p.R144C NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 144 PAS 1. angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) TGAGGAGATTCGTGAGAACCT 0.448 NA 46 63 0 0 0 0 USP34 9736 broad.mit.edu 37 2 61597495 61597495 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:61597495C>T uc002sbe.2 - 10 1234 c.1212G>A c.(1210-1212)CTG>CTA p.L404L NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 404 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) GTTGAGTACTCAGTCGCCCTT 0.244 NA 6 198 0 0 0 0 ACTG2 72 broad.mit.edu 37 2 74129548 74129548 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:74129548G>T uc002sjw.2 + 3 310 c.188G>T c.(187-189)CGA>CTA p.R63L ACTG2_uc010fex.1_Missense_Mutation_p.R63L|ACTG2_uc010fey.2_Missense_Mutation_p.R63L|ACTG2_uc010yrn.1_Intron NM_001615 NP_001606 P63267 ACTH_HUMAN actin, gamma 2 propeptide 63 muscle contraction cytoskeleton|cytosol ATP binding 0 CAGAGCAAGCGAGGGATCCTA 0.483 NA 30 46 2.44e-19 2.88e-19 1 0 TUBA3D 113457 broad.mit.edu 37 2 132235898 132235898 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:132235898G>C uc002tsu.3 + 2 272 c.165G>C c.(163-165)GAG>GAC p.E55D NM_080386 NP_525125 Q13748 TBA3C_HUMAN tubulin, alpha 3d 55 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(221;0.13) TCTTCAGTGAGACTGGAGCTG 0.557 NA 18 58 0 0 0 0 SCN3A 6328 broad.mit.edu 37 2 165986673 165986673 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:165986673C>T uc002ucx.2 - 17 3191 c.2699G>A c.(2698-2700)GGC>GAC p.G900D SCN3A_uc002ucy.2_Missense_Mutation_p.G851D|SCN3A_uc002ucz.2_Missense_Mutation_p.G851D|SCN3A_uc002uda.1_Missense_Mutation_p.G720D|SCN3A_uc002udb.1_Missense_Mutation_p.G720D NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 900 Helical; Name=S5 of repeat II; (Potential). voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) GAGCTGCATGCCGACCACAGC 0.463 NA 4 272 0 0 0 0 DNAH7 56171 broad.mit.edu 37 2 196673458 196673458 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:196673458C>T uc002utj.3 - 53 10132 c.10031G>A c.(10030-10032)CGT>CAT p.R3344H NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3344 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 AAACTCTCTACGAATGGTTTT 0.373 NA 4 163 0 0 0 0 TUBA4A 7277 broad.mit.edu 37 2 220116386 220116386 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:220116386G>A uc002vkt.1 - 3 334 c.276C>T c.(274-276)CTC>CTT p.L92L TUBA4A_uc010zkz.1_Silent_p.L77L|TUBA4B_uc002vku.2_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN tubulin, alpha 4a 92 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(3) 3 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCAGTGATGAGCTGCTCTG 0.547 NA 12 68 0 0 0 0 SPEG 10290 broad.mit.edu 37 2 220338272 220338272 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:220338272C>T uc010fwg.2 + 17 4194 c.4194C>T c.(4192-4194)ATC>ATT p.I1398I NM_005876 NP_005867 Q15772 SPEG_HUMAN SPEG complex locus 1398 Ig-like 7. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity stomach(9)|ovary(4)|central_nervous_system(1) 14 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) AACCAGACATCGTGTATGTGG 0.498 NA 21 202 0 0 0 0 SLC4A3 6508 broad.mit.edu 37 2 220501431 220501431 + Silent SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:220501431C>G uc002vmp.3 + 16 2639 c.2370C>G c.(2368-2370)CTC>CTG p.L790L SLC4A3_uc002vmo.3_Silent_p.L817L|SLC4A3_uc010fwm.2_Silent_p.L340L|SLC4A3_uc010fwn.1_Silent_p.L299L NM_005070 NP_005061 P48751 B3A3_HUMAN solute carrier family 4, anion exchanger, member 790 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 5 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGGAGTACCTCACTGGCCGGG 0.642 NA 4 144 0 0 0 0 FARSB 10056 broad.mit.edu 37 2 223499180 223499180 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr2:223499180G>A uc002vne.1 - 6 571 c.536C>T c.(535-537)TCA>TTA p.S179L FARSB_uc010zlq.1_Missense_Mutation_p.S199L|FARSB_uc002vnf.1_Missense_Mutation_p.S80L NM_005687 NP_005678 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 179 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding ovary(1) 1 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) TTTGATATCTGAAGGACGCTT 0.398 NA 4 84 0 0 0 0 RALGAPB 57148 broad.mit.edu 37 20 37150172 37150172 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr20:37150172C>T uc002xiw.2 + 10 1707 c.1450C>T c.(1450-1452)CGG>TGG p.R484W RALGAPB_uc010zvz.1_Intron|RALGAPB_uc002xix.2_Missense_Mutation_p.R484W|RALGAPB_uc002xiy.1_Missense_Mutation_p.R484W|RALGAPB_uc002xiz.2_Missense_Mutation_p.R262W|RALGAPB_uc002xja.1_Missense_Mutation_p.R211W NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 484 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 GGAGTTTCGACGGAAAGGGTC 0.453 NA 5 238 0 0 0 0 MYT1 4661 broad.mit.edu 37 20 62839236 62839236 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr20:62839236C>T uc002yii.2 + 7 1051 c.687C>T c.(685-687)ACC>ACT p.T229T MYT1_uc002yih.2_Intron|MYT1_uc002yij.2_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 229 Glu-rich. cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) AAGTCACCACCGAGCGCTCCC 0.572 NA 11 77 0 0 0 0 GCFC1 94104 broad.mit.edu 37 21 34116017 34116017 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr21:34116017C>T uc002yqn.2 - 14 2429 c.2239G>A c.(2239-2241)GAT>AAT p.D747N GCFC1_uc002yql.2_Missense_Mutation_p.D256N|GCFC1_uc002yqm.2_Missense_Mutation_p.D241N|GCFC1_uc002yqo.2_RNA|GCFC1_uc002yqp.2_Missense_Mutation_p.D747N NM_016631 NP_057715 Q9Y5B6 GCFC1_HUMAN GC-rich sequence DNA-binding factor candidate 747 cytosol|nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 ATAAATACATCATCATCTAAA 0.289 NA 11 24 0 0 0 0 KRTAP12-4 386684 broad.mit.edu 37 21 46074247 46074247 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr21:46074247G>A uc002zfs.1 - 1 330 c.285C>T c.(283-285)TTC>TTT p.F95F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198698 NP_941971 P60329 KR124_HUMAN keratin associated protein 12-4 95 15 X 5 AA approximate repeats.|14. keratin filament ovary(1) 1 GGGTGGGGCAGAAGGGCTGGC 0.632 NA 4 100 0 0 0 0 POFUT2 23275 broad.mit.edu 37 21 46702265 46702265 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr21:46702265G>A uc002zhc.2 - 4 662 c.637C>T c.(637-639)CGG>TGG p.R213W POFUT2_uc002zhb.2_RNA|POFUT2_uc002zhd.2_Missense_Mutation_p.R213W|POFUT2_uc011afp.1_Missense_Mutation_p.R213W NM_133635 NP_598368 Q9Y2G5 OFUT2_HUMAN protein O-fucosyltransferase 2 isoform C 213 fucose metabolic process endoplasmic reticulum peptide-O-fucosyltransferase activity 0 Colorectal(79;0.243) GGCACTCACCGGGCTGATGTG 0.667 NA 41 51 0 0 0 0 PCNT 5116 broad.mit.edu 37 21 47783638 47783638 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr21:47783638C>G uc002zji.3 + 14 2505 c.2398C>G c.(2398-2400)CAG>GAG p.Q800E PCNT_uc002zjj.2_Missense_Mutation_p.Q682E NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 800 Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GAGGCAGCTTCAGGACCAACA 0.522 NA 3 96 0 0 0 0 CECR1 51816 broad.mit.edu 37 22 17688100 17688100 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr22:17688100G>A uc002zmk.1 - 2 615 c.403C>T c.(403-405)CAC>TAC p.H135Y CECR1_uc010gqu.1_Missense_Mutation_p.H135Y|CECR1_uc011agi.1_Missense_Mutation_p.H93Y|CECR1_uc011agj.1_Missense_Mutation_p.H93Y NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN cat eye syndrome critical region protein 1 135 PRB domain. adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding ovary(1) 1 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) AAACAGATGTGGCAGTGAGGC 0.522 NA 48 89 0 0 0 0 SERPIND1 3053 broad.mit.edu 37 22 21138321 21138321 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr22:21138321G>A uc002ztb.1 + 3 1018 c.951G>A c.(949-951)GAG>GAA p.E317E PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Silent_p.E345E NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 317 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) GGCTGAATGAGAGAGAGGTAG 0.502 NA OREG0026325 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 270 0 0 0 0 SFI1 9814 broad.mit.edu 37 22 32007798 32007798 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr22:32007798G>A uc003ale.2 + 24 2855 c.2462G>A c.(2461-2463)CGG>CAG p.R821Q SFI1_uc003alf.2_Missense_Mutation_p.R790Q|SFI1_uc003alg.2_Missense_Mutation_p.R739Q|SFI1_uc011alp.1_Missense_Mutation_p.R727Q|SFI1_uc011alq.1_Missense_Mutation_p.R766Q|SFI1_uc003alh.2_RNA|SFI1_uc010gwi.2_RNA|SFI1_uc003ali.2_5'Flank|SFI1_uc003alj.2_5'Flank NM_001007467 NP_001007468 A8K8P3 SFI1_HUMAN spindle assembly associated Sfi1 homolog isoform 821 G2/M transition of mitotic cell cycle centriole|cytosol central_nervous_system(1) 1 AGACTCAGCCGGACCTGCTTC 0.617 NA 21 31 0 0 0 0 PACSIN2 11252 broad.mit.edu 37 22 43275154 43275154 + Nonsense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr22:43275154G>A uc010gzg.2 - 8 1150 c.928C>T c.(928-930)CGA>TGA p.R310* PACSIN2_uc003bdg.3_Nonsense_Mutation_p.R310*|PACSIN2_uc003bde.3_Nonsense_Mutation_p.R310*|PACSIN2_uc003bdf.3_Nonsense_Mutation_p.R310* NM_007229 NP_009160 Q9UNF0 PACN2_HUMAN protein kinase C and casein kinase substrate in 310 actin cytoskeleton organization|endocytosis cytoplasmic membrane-bounded vesicle transporter activity 0 Glioma(61;0.222) CTGAGGGTTCGATTCAGGTCT 0.592 NA 5 101 0 0 0 0 SACM1L 22908 broad.mit.edu 37 3 45744942 45744942 + Silent SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:45744942T>C uc003cos.2 + 2 249 c.45T>C c.(43-45)CCT>CCC p.P15P SACM1L_uc011bag.1_5'UTR|SACM1L_uc011bah.1_5'UTR NM_014016 NP_054735 Q9NTJ5 SAC1_HUMAN suppressor of actin 1 15 Golgi apparatus ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277) ATATCACACCTGAAAAATTTT 0.348 NA 3 125 0 0 0 0 CCR2 729230 broad.mit.edu 37 3 46399948 46399948 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:46399948G>A uc003cpn.3 + 2 1415 c.930G>A c.(928-930)GAG>GAA p.E310E CCR2_uc003cpm.3_Silent_p.E310E NM_001123041 NP_001116513 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 isoform A 310 Cytoplasmic (Potential). astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity lung(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) TCGTTGGGGAGAAGTTCAGAA 0.502 NA 15 149 0 0 0 0 DNAH1 25981 broad.mit.edu 37 3 52404531 52404531 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:52404531C>T uc011bef.1 + 40 6558 c.6297C>T c.(6295-6297)ATC>ATT p.I2099I NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 2099 ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGAGTCGCATCGTAGAGTTGA 0.557 NA 12 27 0 0 0 0 TMEM110 375346 broad.mit.edu 37 3 52867433 52867433 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:52867433C>T uc003dgc.3 - 10 1107 c.1026G>A c.(1024-1026)TCG>TCA p.S342S ITIH4_uc011bem.1_5'Flank|ITIH4_uc011ben.1_5'Flank|ITIH4_uc003dfz.2_5'Flank|ITIH4_uc010hmp.1_5'Flank|MUSTN1_uc010hmq.1_RNA|MUSTN1_uc003dga.3_Silent_p.S52S|MUSTN1_uc003dgb.3_3'UTR NM_198563 NP_940965 Q86TL2 TM110_HUMAN transmembrane protein 110 Error:Variant_position_missing_in_Q86TL2_after_alignment integral to membrane large_intestine(1) 1 BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541) ACGGGGCGGCCGAGCCAGCTT 0.602 NA 22 25 0 0 0 0 DHFRL1 200895 broad.mit.edu 37 3 93780144 93780144 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:93780144C>T uc003dri.2 - 2 378 c.212G>A c.(211-213)AGA>AAA p.R71K DHFRL1_uc003drj.2_Missense_Mutation_p.R71K|NSUN3_uc003drk.2_5'Flank|NSUN3_uc003drl.1_5'Flank NM_176815 NP_789785 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 71 DHFR. Substrate (By similarity). glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding 0 TAAATTAATTCTATCCTTTAA 0.413 NA 7 613 0 0 0 0 OR5H15 403274 broad.mit.edu 37 3 97887885 97887885 + Silent SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:97887885C>G uc011bgu.1 + 1 342 c.342C>G c.(340-342)CTC>CTG p.L114L NM_001005515 NP_001005515 A6NDH6 O5H15_HUMAN olfactory receptor, family 5, subfamily H, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 AATGTTTTCTCTTGGCAACAA 0.378 NA 4 562 0 0 0 0 TOMM70A 9868 broad.mit.edu 37 3 100084508 100084508 + Missense_Mutation SNP T T G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:100084508T>G uc003dtw.2 - 12 2159 c.1727A>C c.(1726-1728)AAA>ACA p.K576T NM_014820 NP_055635 O94826 TOM70_HUMAN translocase of outer mitochondrial membrane 70 576 Cytoplasmic (Potential).|TPR 10. protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex protein binding|protein transmembrane transporter activity ovary(1) 1 CATTTCCGATTTGGCCAGGTT 0.398 NA 5 455 0 0 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111769615 111769615 + Silent SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:111769615T>C uc010hqb.2 + 7 980 c.810T>C c.(808-810)TGT>TGC p.C270C TMPRSS7_uc011bhr.1_Silent_p.C125C NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 396 Extracellular (Potential).|CUB 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity ovary(1)|kidney(1) 2 AATGCAAGTGTACCTGGAAAT 0.353 NA 111 560 0 0 0 0 EPHB1 2047 broad.mit.edu 37 3 134644682 134644682 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:134644682C>A uc003eqt.2 + 2 303 c.83C>A c.(82-84)GCT>GAT p.A28D EPHB1_uc010htz.1_RNA|EPHB1_uc011bly.1_Missense_Mutation_p.A28D NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 28 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 ACCAGAACGGCTACTGCAGAG 0.458 NA 3 29 6.4e-05 7.06e-05 1 0 CLSTN2 64084 broad.mit.edu 37 3 140178491 140178491 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:140178491G>T uc003etn.2 + 7 1292 c.1102G>T c.(1102-1104)GAT>TAT p.D368Y CLSTN2_uc003etm.2_Missense_Mutation_p.D368Y NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 368 Extracellular (Potential). homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CAAAGTCCCCGATGGGATTGT 0.577 NA HNSCC(16;0.037) 28 150 4.6e-10 5.31e-10 1 0 RSRC1 51319 broad.mit.edu 37 3 157921018 157921018 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:157921018C>T uc003fbt.2 + 4 589 c.478C>T c.(478-480)CAT>TAT p.H160Y RSRC1_uc011bou.1_Intron|RSRC1_uc003fbu.1_Missense_Mutation_p.H160Y|RSRC1_uc003fbv.2_Intron NM_016625 NP_057709 Q96IZ7 RSRC1_HUMAN arginine/serine-rich coiled-coil 1 160 nucleocytoplasmic transport cytoplasm|nuclear speck protein binding 0 Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575) caaggaATTACATAACATCAA 0.333 NA 33 10 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:178936091G>A uc003fjk.2 + 10 1790 c.1633G>A c.(1633-1635)GAG>AAG p.E545K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 545 PI3K helical. E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353 E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 30 218 0 0 0 0 YEATS2 55689 broad.mit.edu 37 3 183471980 183471980 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:183471980G>C uc003fly.2 + 11 1412 c.1217G>C c.(1216-1218)AGA>ACA p.R406T NM_018023 NP_060493 Q9ULM3 YETS2_HUMAN YEATS domain containing 2 406 histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex TBP-class protein binding ovary(3)|large_intestine(1) 4 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) TCATTGGAAAGAACACCCACC 0.443 NA 12 781 0 0 0 0 ECE2 9718 broad.mit.edu 37 3 184008348 184008348 + Nonsense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:184008348G>A uc003fni.3 + 15 2051 c.2013G>A c.(2011-2013)TGG>TGA p.W671* ECE2_uc011brh.1_Nonsense_Mutation_p.W524*|ECE2_uc003fnl.3_Nonsense_Mutation_p.W599*|ECE2_uc003fnm.3_Nonsense_Mutation_p.W553*|ECE2_uc003fnk.3_Nonsense_Mutation_p.W524*|ECE2_uc011bri.1_Nonsense_Mutation_p.W586*|ECE2_uc010hxv.2_Nonsense_Mutation_p.W315* NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 671 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) CCGCCAGGTGGAGCATGACCC 0.622 NA 14 522 0 0 0 0 BCL6 604 broad.mit.edu 37 3 187447102 187447102 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:187447102G>A uc003frp.3 - 5 1548 c.1091C>T c.(1090-1092)GCC>GTC p.A364V BCL6_uc011bsf.1_Missense_Mutation_p.A364V|BCL6_uc010hza.2_Missense_Mutation_p.A262V|BCL6_uc003frq.1_Missense_Mutation_p.A364V NM_001130845 NP_001124317 P41182 BCL6_HUMAN B-cell lymphoma 6 protein isoform 1 364 negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|lung(2)|central_nervous_system(1) 5 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) GGGGCTCTTGGCTGGAGGGGA 0.577 NA T|Mis IG loci|ZNFN1A1|LCP1|PIM1|TFRC|MHC2TA|NACA|HSPCB|HSPCA|HIST1H4I|IL21R| POU2AF1|ARHH|EIF4A2|SFRS3 NHL|CLL 18 863 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195486032 195486032 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:195486032G>A uc011bto.1 - 18 15025 c.14565C>T c.(14563-14565)TTC>TTT p.F4855F MUC4_uc003fuz.2_Silent_p.F581F|MUC4_uc003fva.2_Silent_p.F463F|MUC4_uc003fvb.2_Silent_p.F499F|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Silent_p.F499F|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_Silent_p.F463F|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.F547F|MUC4_uc011bti.1_Silent_p.F547F|MUC4_uc011btj.1_Silent_p.F724F|MUC4_uc011btk.1_Silent_p.F463F|MUC4_uc011btl.1_Silent_p.F492F|MUC4_uc011btm.1_Silent_p.F672F|MUC4_uc011btn.1_Silent_p.F463F|MUC4_uc003fvo.2_Silent_p.F747F|MUC4_uc003fvp.2_Silent_p.F696F NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1740 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTCTGAGCGTGAAGTTGGCAT 0.552 NA 7 898 0 0 0 0 MUC4 4585 broad.mit.edu 37 3 195517519 195517519 + Nonsense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:195517519G>C uc011bto.1 - 2 1392 c.932C>G c.(931-933)TCA>TGA p.S311* MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Nonsense_Mutation_p.S193* NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 316 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAAGTCCTTGAGAAAGTTGC 0.473 NA 6 606 0 0 0 0 LRCH3 84859 broad.mit.edu 37 3 197585712 197585712 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr3:197585712C>T uc011bul.1 + 15 1657 c.1652C>T c.(1651-1653)TCA>TTA p.S551L LRCH3_uc003fyj.1_Missense_Mutation_p.S551L|LRCH3_uc011bum.1_Intron|LRCH3_uc011bun.1_Missense_Mutation_p.S397L|LRCH3_uc003fyk.2_Missense_Mutation_p.S146L NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 551 extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TAGTCGCTGTCAGGGTTGAAT 0.438 NA 86 415 0 0 0 0 APBB2 323 broad.mit.edu 37 4 40936491 40936491 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:40936491G>A uc003gvl.2 - 10 1863 c.1233C>T c.(1231-1233)AAC>AAT p.N411N APBB2_uc010ifu.2_5'UTR|APBB2_uc003gvm.2_Silent_p.N390N|APBB2_uc003gvn.2_Silent_p.N412N|APBB2_uc011byt.1_Silent_p.N373N NM_173075 NP_775098 Q92870 APBB2_HUMAN amyloid beta A4 precursor protein-binding, 411 cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent growth cone|lamellipodium|membrane|nucleus|synapse beta-amyloid binding|transcription factor binding ovary(2)|large_intestine(1) 3 CTGGGTCACTGTTGATACTAC 0.383 NA 16 88 0 0 0 0 TXK 7294 broad.mit.edu 37 4 48096216 48096216 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:48096216G>A uc003gxx.3 - 8 673 c.587C>T c.(586-588)ACG>ATG p.T196M TXK_uc003gxy.1_Missense_Mutation_p.T196M NM_003328 NP_003319 P42681 TXK_HUMAN TXK tyrosine kinase 196 SH2. cytoplasm ATP binding|non-membrane spanning protein tyrosine kinase activity 0 GGCAGCCTCCGTACTTCTACA 0.373 NA 8 58 0 0 0 0 PDHA2 5161 broad.mit.edu 37 4 96762282 96762282 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:96762282C>T uc003htr.3 + 1 1044 c.981C>T c.(979-981)CTC>CTT p.L327L NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 327 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) ACAGCAAGCTCGCCACTGTGG 0.428 NA 40 53 0 0 0 0 FAT4 79633 broad.mit.edu 37 4 126371107 126371107 + Missense_Mutation SNP A A T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:126371107A>T uc003ifj.3 + 9 8936 c.8936A>T c.(8935-8937)AAT>ATT p.N2979I FAT4_uc011cgp.1_Missense_Mutation_p.N1277I|FAT4_uc003ifi.1_Missense_Mutation_p.N457I NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2979 Cadherin 28.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 AGTAATGACAATGCACCTCAA 0.343 NA 37 65 0 0 0 0 MAP9 79884 broad.mit.edu 37 4 156274418 156274418 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:156274418C>G uc003ios.2 - 11 1719 c.1455G>C c.(1453-1455)AAG>AAC p.K485N MAP9_uc011cin.1_Missense_Mutation_p.K460N|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.K484N NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 485 Potential. cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) CAGCTATTTTCTTTGCTTCCT 0.353 NA 8 119 0 0 0 0 MAP9 79884 broad.mit.edu 37 4 156289952 156289952 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:156289952C>A uc003ios.2 - 5 758 c.494G>T c.(493-495)AGC>ATC p.S165I MAP9_uc011cin.1_Missense_Mutation_p.S164I|MAP9_uc010iqa.1_RNA|MAP9_uc003iot.1_Missense_Mutation_p.S164I|MAP9_uc010iqb.1_Missense_Mutation_p.S92I NM_001039580 NP_001034669 Q49MG5 MAP9_HUMAN aster-associated protein 165 cell division|mitosis cytoplasm|microtubule|spindle ovary(1)|central_nervous_system(1) 2 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TGTGTCAAGGCTGTTGTTTTC 0.388 NA 38 69 6.21e-16 7.3e-16 1 0 PDGFC 56034 broad.mit.edu 37 4 157771474 157771474 + Silent SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr4:157771474C>G uc003iph.1 - 2 704 c.213G>C c.(211-213)ACG>ACC p.T71T PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_5'UTR NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 71 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) ATACCAAGACCGTATTTCTTG 0.388 NA 41 67 0 0 0 0 SDHA 6389 broad.mit.edu 37 5 233625 233625 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:233625G>A uc003jao.3 + 8 1044 c.929G>A c.(928-930)GGA>GAA p.G310E SDHA_uc003jan.2_Missense_Mutation_p.G310E|SDHA_uc011clv.1_Missense_Mutation_p.G310E|SDHA_uc011clw.1_Missense_Mutation_p.G262E|SDHA_uc003jap.3_Missense_Mutation_p.G310E|SDHA_uc003jaq.3_Missense_Mutation_p.G85E|SDHA_uc003jar.3_5'UTR NM_004168 NP_004159 P31040 DHSA_HUMAN succinate dehydrogenase complex, subunit A, 310 nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle mitochondrial respiratory chain complex II electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity 0 Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113) Succinic acid(DB00139) ATTACGGAAGGATGTCGTGGA 0.438 NA Familial_Paragangliomas 93 150 0 0 0 0 CTNND2 1501 broad.mit.edu 37 5 11732259 11732259 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:11732259C>A uc003jfa.1 - 2 308 c.163G>T c.(163-165)GTC>TTC p.V55F CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 55 Potential. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 TGTTCTTTGACTGAGGCGAGG 0.423 NA 66 104 2.15e-23 2.57e-23 1 0 CDH10 1008 broad.mit.edu 37 5 24511507 24511507 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:24511507C>A uc003jgr.1 - 6 1263 c.931G>T c.(931-933)GGT>TGT p.G311C CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 311 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GTACCGTCACCATCAATAATT 0.433 NA HNSCC(23;0.051) 87 161 1.8e-35 2.18e-35 1 0 CDH9 1007 broad.mit.edu 37 5 26881576 26881576 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:26881576G>T uc003jgs.1 - 12 2208 c.2039C>A c.(2038-2040)CCA>CAA p.P680Q CDH9_uc011cnv.1_Missense_Mutation_p.P273Q NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 680 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 TCTTGCCTCTGGATTCCTTAA 0.433 NA 14 267 1.5e-05 1.66e-05 1 0 C6 729 broad.mit.edu 37 5 41199909 41199909 + Nonsense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:41199909C>A uc003jmk.2 - 4 616 c.406G>T c.(406-408)GAA>TAA p.E136* C6_uc003jml.1_Nonsense_Mutation_p.E136* NM_000065 NP_000056 P13671 CO6_HUMAN complement component 6 precursor 136 complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding ovary(3)|central_nervous_system(2)|skin(2) 7 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TCAGCCTCTTCAATTTTGCAG 0.428 NA 5 154 0.000602214 0.000650585 1 0 HTR1A 3350 broad.mit.edu 37 5 63256897 63256897 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:63256897C>T uc011cqt.1 - 1 650 c.650G>A c.(649-651)CGC>CAC p.R217H NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 217 Helical; Name=5; (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCGGAATATGCGCCCATAGAG 0.587 NA 5 186 0 0 0 0 KCNN2 3781 broad.mit.edu 37 5 113699624 113699624 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:113699624C>T uc003kqo.2 + 2 965 c.508C>T c.(508-510)CTG>TTG p.L170L NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 170 Helical; Name=Segment S2; (Potential). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) TTCCTTAGCTCTGAAATGCCT 0.483 NA 43 84 0 0 0 0 CEP120 153241 broad.mit.edu 37 5 122682331 122682331 + Missense_Mutation SNP A A G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:122682331A>G uc003ktk.2 - 21 2925 c.2843T>C c.(2842-2844)CTG>CCG p.L948P CEP120_uc011cwq.1_Missense_Mutation_p.L757P NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 948 centrosome ovary(1) 1 TTCTTCTATCAGGCGAGTCAA 0.418 NA 4 290 0 0 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711638 140711638 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:140711638G>A uc003lji.1 + 1 1387 c.1387G>A c.(1387-1389)GAA>AAA p.E463K PCDHGA1_uc011dan.1_Missense_Mutation_p.E463K NM_018912 NP_061735 Q9Y5H4 PCDG1_HUMAN protocadherin gamma subfamily A, 1 isoform 1 463 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(1)|breast(1)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTACATTCCCGAAAACAACCC 0.468 NA 68 123 0 0 0 0 C5orf58 133874 broad.mit.edu 37 5 169673114 169673114 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:169673114C>G uc010jjn.2 + 4 389 c.306C>G c.(304-306)ATC>ATG p.I102M C5orf58_uc003mal.2_Intron NM_001102609 NP_001096079 C9J3I9 CE058_HUMAN hypothetical protein LOC133874 102 0 GTTTTTCTATCTGATTTCTTA 0.289 NA 3 75 0 0 0 0 RUFY1 80230 broad.mit.edu 37 5 178987158 178987158 + Missense_Mutation SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:178987158T>C uc003mka.1 + 2 443 c.443T>C c.(442-444)TTC>TCC p.F148S RUFY1_uc003mkb.1_Missense_Mutation_p.F40S|RUFY1_uc003mkc.1_Missense_Mutation_p.F40S NM_025158 NP_079434 Q96T51 RUFY1_HUMAN RUN and FYVE domain-containing 1 isoform a 148 RUN. endocytosis|protein transport early endosome membrane lipid binding|zinc ion binding ovary(4)|breast(1) 5 all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195) all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGCAGCAGTTCTTTGTAGTG 0.572 NA HNSCC(44;0.11) 14 25 0 0 0 0 MAML1 9794 broad.mit.edu 37 5 179201801 179201801 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr5:179201801C>T uc003mkm.2 + 5 3237 c.2974C>T c.(2974-2976)CTG>TTG p.L992L MAML1_uc003mkn.1_Intron NM_014757 NP_055572 Q92585 MAML1_HUMAN mastermind-like 1 992 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck peptide antigen binding|protein kinase binding|transcription coactivator activity lung(4)|ovary(2) 6 all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ACACACCGATCTGATCGACTC 0.557 NA 5 107 0 0 0 0 PRPF4B 8899 broad.mit.edu 37 6 4032653 4032653 + Missense_Mutation SNP A A G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:4032653A>G uc003mvv.2 + 2 993 c.902A>G c.(901-903)AAA>AGA p.K301R PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 301 Arg/Lys-rich (basic). catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) TTAAGAGGTAAATCCAAAGAC 0.353 NA 122 30 0 0 0 0 PRPF4B 8899 broad.mit.edu 37 6 4044117 4044117 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:4044117C>T uc003mvv.2 + 6 1812 c.1721C>T c.(1720-1722)ACG>ATG p.T574M PRPF4B_uc003mvw.2_RNA|PRPF4B_uc011dhv.1_RNA NM_003913 NP_003904 Q13523 PRP4B_HUMAN serine/threonine-protein kinase PRP4K 574 catalytic step 2 spliceosome ATP binding|protein binding|protein serine/threonine kinase activity breast(5) 5 Ovarian(93;0.0925) all_hematologic(90;0.0895) CAGAGCAGTACGAGAACACGA 0.418 NA 60 20 0 0 0 0 BAT2 7916 broad.mit.edu 37 6 31605326 31605326 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:31605326G>A uc003nvb.3 + 31 6686 c.6437G>A c.(6436-6438)CGA>CAA p.R2146Q BAT2_uc003nvc.3_Missense_Mutation_p.R2146Q NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 2146 cytoplasm|nucleus protein binding 0 CCTGGGTCCCGAGGGGACAAG 0.632 NA 6 84 0 0 0 0 TREML2 79865 broad.mit.edu 37 6 41162432 41162432 + Silent SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:41162432G>C uc010jxm.1 - 3 695 c.516C>G c.(514-516)CTC>CTG p.L172L NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN triggering receptor expressed on myeloid 172 Extracellular (Potential). T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0418)|Colorectal(47;0.196) GCAAGGTGATGAGTCCTGGGG 0.577 NA 7 40 0 0 0 0 DEFB114 245928 broad.mit.edu 37 6 49928019 49928019 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:49928019C>G uc011dwp.1 - 2 196 c.196G>C c.(196-198)GAT>CAT p.D66H NM_001037499 NP_001032588 Q30KQ6 DB114_HUMAN beta-defensin 114 precursor 66 defense response to bacterium extracellular region ovary(1) 1 Lung NSC(77;0.042) AACATATCATCTTCTTCATAC 0.358 NA 17 39 0 0 0 0 SENP6 26054 broad.mit.edu 37 6 76376512 76376512 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:76376512G>C uc003pid.3 + 10 1698 c.1079G>C c.(1078-1080)TGT>TCT p.C360S SENP6_uc003pie.3_Missense_Mutation_p.C353S|SENP6_uc010kbf.2_RNA|SENP6_uc003pic.2_Missense_Mutation_p.C353S|SENP6_uc003pif.1_Missense_Mutation_p.C251S NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 isoform 1 360 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|urinary_tract(1)|ovary(1)|lung(1)|skin(1) 6 all_hematologic(105;0.189) GATTCAGCATGTTCTTCCCCT 0.423 NA 20 87 0 0 0 0 IBTK 25998 broad.mit.edu 37 6 82923970 82923970 + Silent SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:82923970T>C uc003pjl.1 - 12 2705 c.2178A>G c.(2176-2178)AAA>AAG p.K726K IBTK_uc011dyv.1_Silent_p.K726K|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.K420K|IBTK_uc003pjm.2_Silent_p.K726K NM_015525 NP_056340 Q9P2D0 IBTK_HUMAN inhibitor of Bruton's tyrosine kinase 726 negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol cytoplasm|membrane|nucleus protein kinase binding|protein tyrosine kinase inhibitor activity ovary(2)|central_nervous_system(2) 4 all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037) BRCA - Breast invasive adenocarcinoma(397;0.0901) TGAAGTCGAATTTCTTTGCAA 0.338 NA 42 69 0 0 0 0 CDC40 51362 broad.mit.edu 37 6 110530349 110530349 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:110530349G>T uc003pua.2 + 5 577 c.553G>T c.(553-555)GAT>TAT p.D185Y NM_015891 NP_056975 O60508 PRP17_HUMAN cell division cycle 40 homolog 185 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm 0 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) TAAAGAAAATGATGCATCCAA 0.299 NA 6 70 5.94e-07 6.71e-07 1 0 C6orf97 80129 broad.mit.edu 37 6 151894461 151894461 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr6:151894461G>C uc003qol.2 + 6 1016 c.927G>C c.(925-927)TTG>TTC p.L309F NM_025059 NP_079335 Q8IYT3 CF097_HUMAN hypothetical protein LOC80129 309 0 Ovarian(120;0.126) BRCA - Breast invasive adenocarcinoma(37;0.111) OV - Ovarian serous cystadenocarcinoma(155;1.48e-10) AGAAGAGTTTGAAGGCCAGTC 0.512 NA 3 72 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11468681 11468681 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:11468681G>A uc003ssf.3 - 14 3388 c.3136C>T c.(3136-3138)CGC>TGC p.R1046C NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1046 TSP type-1 11.|Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) TTGCTGCAGCGCGACCAGTTG 0.517 NA HNSCC(18;0.044) 110 166 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11676072 11676072 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:11676072G>A uc003ssf.3 - 2 959 c.707C>T c.(706-708)ACG>ATG p.T236M NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 236 Extracellular (Potential).|TSP type-1 2. integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) CTGGAACTCCGTCAGGTTTGG 0.657 NA HNSCC(18;0.044) 4 38 0 0 0 0 SAMD9L 219285 broad.mit.edu 37 7 92764127 92764127 + Missense_Mutation SNP C C A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:92764127C>A uc003umh.1 - 5 2374 c.1158G>T c.(1156-1158)ATG>ATT p.M386I SAMD9L_uc003umj.1_Missense_Mutation_p.M386I|SAMD9L_uc003umi.1_Missense_Mutation_p.M386I|SAMD9L_uc010lfb.1_Missense_Mutation_p.M386I|SAMD9L_uc003umk.1_Missense_Mutation_p.M386I|SAMD9L_uc010lfc.1_Missense_Mutation_p.M386I|SAMD9L_uc010lfd.1_Missense_Mutation_p.M386I|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 386 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TCATTGCCTTCATTCCATACT 0.393 NA 34 349 2.85e-18 3.37e-18 1 0 SAMD9L 219285 broad.mit.edu 37 7 92764780 92764780 + Missense_Mutation SNP C C G rs144605831 byFrequency TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:92764780C>G uc003umh.1 - 5 1721 c.505G>C c.(505-507)GAT>CAT p.D169H SAMD9L_uc003umj.1_Missense_Mutation_p.D169H|SAMD9L_uc003umi.1_Missense_Mutation_p.D169H|SAMD9L_uc010lfb.1_Missense_Mutation_p.D169H|SAMD9L_uc003umk.1_Missense_Mutation_p.D169H|SAMD9L_uc010lfc.1_Missense_Mutation_p.D169H|SAMD9L_uc010lfd.1_Missense_Mutation_p.D169H|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 169 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) TGGAACTGATCAAAAGGATAT 0.363 NA 18 231 0 0 0 0 PLOD3 8985 broad.mit.edu 37 7 100859263 100859263 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:100859263G>A uc003uyd.2 - 5 997 c.541C>T c.(541-543)CGC>TGC p.R181C ZNHIT1_uc003uye.2_5'Flank|ZNHIT1_uc003uyf.2_5'Flank NM_001084 NP_001075 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 181 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) TTCCACTGGCGCACGATTTGG 0.617 NA 34 61 0 0 0 0 FOXP2 93986 broad.mit.edu 37 7 114299704 114299704 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:114299704C>G uc003vhb.2 + 13 1997 c.1623C>G c.(1621-1623)TTC>TTG p.F541L FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.F566L|FOXP2_uc003vha.2_Missense_Mutation_p.F449L|FOXP2_uc011kmu.1_Missense_Mutation_p.F558L|FOXP2_uc011kmv.1_Missense_Mutation_p.F540L|FOXP2_uc010ljz.1_Missense_Mutation_p.F356L|FOXP2_uc003vhe.1_Missense_Mutation_p.F111L NM_014491 NP_055306 O15409 FOXP2_HUMAN forkhead box P2 isoform I 541 Fork-head. camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1) 8 TTGCTTACTTCAGGCGTAATG 0.323 NA 4 127 0 0 0 0 PTPRZ1 5803 broad.mit.edu 37 7 121653325 121653325 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:121653325G>T uc003vjy.2 + 12 4620 c.4225G>T c.(4225-4227)GAT>TAT p.D1409Y PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 1409 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 TGCCAAATCTGATGCCGGTTT 0.338 NA 68 89 1.84e-34 2.22e-34 1 0 CPA2 1358 broad.mit.edu 37 7 129929571 129929571 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:129929571G>C uc003vpq.2 + 11 1263 c.1244G>C c.(1243-1245)CGA>CCA p.R415P NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 415 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) GAGCATGTGCGAGACCACCCC 0.517 NA 33 85 0 0 0 0 TRIM24 8805 broad.mit.edu 37 7 138210029 138210029 + Missense_Mutation SNP A A G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:138210029A>G uc003vuc.2 + 5 1023 c.808A>G c.(808-810)ATA>GTA p.I270V TRIM24_uc003vub.2_Missense_Mutation_p.I270V NM_015905 NP_056989 O15164 TIF1A_HUMAN transcriptional intermediary factor 1 alpha 270 cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter cytoplasm chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1) 8 GAAAGTGATCATAGATACACT 0.269 NA 11 33 0 0 0 0 KIAA1549 57670 broad.mit.edu 37 7 138545904 138545904 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr7:138545904G>A uc011kql.1 - 16 5277 c.5228C>T c.(5227-5229)ACG>ATG p.T1743M KIAA1549_uc011kqi.1_Missense_Mutation_p.T527M|KIAA1549_uc003vuk.3_Missense_Mutation_p.T1693M|KIAA1549_uc011kqj.1_Missense_Mutation_p.T1743M|KIAA1549_uc011kqk.1_Missense_Mutation_p.T527M NM_020910 NP_065961 Q9HCM3 K1549_HUMAN hypothetical protein LOC57670 isoform 1 1743 integral to membrane KIAA1549/BRAF(229) central_nervous_system(229)|pancreas(1) 230 ATTGTTGGCCGTCTGGGCTGG 0.602 NA O BRAF pilocytic astrocytoma 44 54 0 0 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37729045 37729045 + Missense_Mutation SNP T T A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:37729045T>A uc003xkm.1 - 4 3319 c.3275A>T c.(3274-3276)GAC>GTC p.D1092V RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_Missense_Mutation_p.D421V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.D421V|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 1092 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) TACAGGATTGTCCAGGGATGT 0.557 NA OREG0018713 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 167 259 0 0 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730417 37730417 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:37730417C>T uc003xkm.1 - 4 1947 c.1903G>A c.(1903-1905)GAG>AAG p.E635K RAB11FIP1_uc010lvz.1_Intron|RAB11FIP1_uc003xkn.1_Intron|RAB11FIP1_uc003xkl.1_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron NM_001002814 NP_001002814 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 isoform 3 635 protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) GTTTGCAACTCTGCCTTAGGG 0.502 NA 24 219 0 0 0 0 CHRNB3 1142 broad.mit.edu 37 8 42587115 42587115 + Missense_Mutation SNP T T C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:42587115T>C uc003xpi.1 + 5 793 c.665T>C c.(664-666)TTT>TCT p.F222S NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 222 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) TCCTATCCCTTTATCACGTAT 0.478 NA 61 61 0 0 0 0 CA2 760 broad.mit.edu 37 8 86389459 86389459 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:86389459G>A uc003ydk.2 + 6 798 c.618G>A c.(616-618)GTG>GTA p.V206V NM_000067 NP_000058 P00918 CAH2_HUMAN carbonic anhydrase II 206 one-carbon metabolic process apical part of cell carbonate dehydratase activity|zinc ion binding central_nervous_system(1) 1 Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) TGGAATGTGTGACCTGGATTG 0.512 NA 9 430 0 0 0 0 RGS22 26166 broad.mit.edu 37 8 101065137 101065137 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:101065137G>A uc003yjb.1 - 10 1777 c.1582C>T c.(1582-1584)CAC>TAC p.H528Y RGS22_uc003yja.1_Missense_Mutation_p.H347Y|RGS22_uc003yjc.1_Missense_Mutation_p.H516Y|RGS22_uc011lgz.1_RNA|RGS22_uc010mbo.1_RNA NM_015668 NP_056483 Q8NE09 RGS22_HUMAN regulator of G-protein signaling 22 528 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3)|skin(2)|breast(1)|central_nervous_system(1) 7 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) TGACGGAGGTGCCAGAATTTC 0.408 NA 119 188 0 0 0 0 RIMS2 9699 broad.mit.edu 37 8 104898340 104898340 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:104898340G>A uc003yls.2 + 2 1088 c.847G>A c.(847-849)GGT>AGT p.G283S RIMS2_uc003ylp.2_Missense_Mutation_p.G505S|RIMS2_uc003ylw.2_Missense_Mutation_p.G313S|RIMS2_uc003ylq.2_Missense_Mutation_p.G313S|RIMS2_uc003ylr.2_Missense_Mutation_p.G313S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 536 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAAGAAAGGCGGTAAAATGCG 0.428 NA HNSCC(12;0.0054) 34 49 0 0 0 0 LRP12 29967 broad.mit.edu 37 8 105510194 105510194 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:105510194C>T uc003yma.2 - 5 681 c.586G>A c.(586-588)GAT>AAT p.D196N LRP12_uc003ymb.2_Missense_Mutation_p.D177N|LRP12_uc003ylz.2_5'Flank NM_013437 NP_038465 Q9Y561 LRP12_HUMAN low density lipoprotein-related protein 12 196 Extracellular (Potential).|LDL-receptor class A 1. endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) ATCTCTTCATCGGAACTATCT 0.423 NA 4 210 0 0 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428272 128428272 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:128428272G>A uc003ysf.2 + 1 416 c.161G>A c.(160-162)GGC>GAC p.G54D uc003ysc.1_Intron|uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|uc011liu.1_RNA NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN POU class 5 homeobox 1B 54 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GTTGGGCCAGGCTCTGAGGTG 0.677 NA 9 8 0 0 0 0 ZNF16 7564 broad.mit.edu 37 8 146157609 146157609 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr8:146157609C>G uc003zet.2 - 4 751 c.564G>C c.(562-564)CAG>CAC p.Q188H ZNF16_uc003zeu.2_Missense_Mutation_p.Q188H NM_001029976 NP_001025147 P17020 ZNF16_HUMAN zinc finger protein 16 188 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(5) 5 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Acute lymphoblastic leukemia(644;0.136) Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486) GCTGGAAACTCTGGCCACCCA 0.493 NA 28 260 0 0 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88162058 88162058 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr9:88162058G>A uc011ltd.1 - 25 3680 c.3647C>T c.(3646-3648)TCT>TTT p.S1216F AGTPBP1_uc004aod.3_Missense_Mutation_p.S842F|AGTPBP1_uc011ltc.1_3'UTR|AGTPBP1_uc010mqc.2_Missense_Mutation_p.S1176F|AGTPBP1_uc011lte.1_Missense_Mutation_p.S1228F NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 1216 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 TTCAGAGTCAGAAAGTACTTC 0.363 NA 8 152 0 0 0 0 ZNF883 169834 broad.mit.edu 37 9 115760138 115760138 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr9:115760138G>A uc011lwy.1 - 5 1641 c.402C>T c.(400-402)TTC>TTT p.F134F NM_001101338 NP_001094808 P0CG24 ZN883_HUMAN hypothetical protein LOC169834 134 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGATATGGCTGAAAGCTTTCC 0.393 NA 6 115 0 0 0 0 PAPPA 5069 broad.mit.edu 37 9 118949729 118949729 + Missense_Mutation SNP C C G TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr9:118949729C>G uc004bjn.2 + 2 1093 c.712C>G c.(712-714)CTC>GTC p.L238V PAPPA_uc011lxp.1_Missense_Mutation_p.L31V|PAPPA_uc011lxq.1_Missense_Mutation_p.L31V NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 238 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGCAAAGTGCTCATGTTAGG 0.557 NA 19 155 0 0 0 0 CEP110 11064 broad.mit.edu 37 9 123880662 123880662 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr9:123880662G>C uc004bkx.1 + 10 1525 c.1494G>C c.(1492-1494)TTG>TTC p.L498F CEP110_uc004bky.1_Missense_Mutation_p.L102F NM_007018 NP_008949 Q7Z7A1 CNTRL_HUMAN centrosomal protein 110kDa 498 Potential. cell division|G2/M transition of mitotic cell cycle centrosome|cytosol protein binding 0 ACAAGCAGTTGAGTGGTAGAC 0.393 NA 5 342 0 0 0 0 SPTAN1 6709 broad.mit.edu 37 9 131370227 131370227 + Missense_Mutation SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr9:131370227G>A uc004bvl.3 + 33 4356 c.4243G>A c.(4243-4245)GAG>AAG p.E1415K SPTAN1_uc004bvm.3_Missense_Mutation_p.E1415K|SPTAN1_uc004bvn.3_Missense_Mutation_p.E1395K NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1415 Spectrin 15. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 TGCCAGCCCTGAGATCAAGCA 0.547 NA 7 158 0 0 0 0 ZER1 10444 broad.mit.edu 37 9 131503106 131503106 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chr9:131503106C>T uc004bwa.1 - 12 2231 c.1798G>A c.(1798-1800)GAA>AAA p.E600K NM_006336 NP_006327 Q7Z7L7 ZER1_HUMAN zyg-11 homolog B (C. elegans)-like 600 ARM 3. ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity ovary(1) 1 TCCTTCACTTCTGCCACATTC 0.403 NA 12 192 0 0 0 0 CSF2RA 1438 broad.mit.edu 37 X 1409269 1409269 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chrX:1409269C>T uc010nct.2 + 8 835 c.513C>T c.(511-513)GAC>GAT p.D171D CSF2RA_uc011mhb.1_Silent_p.D171D|CSF2RA_uc004cpq.2_Silent_p.D171D|CSF2RA_uc004cpn.2_Silent_p.D171D|CSF2RA_uc004cpo.2_Silent_p.D171D|CSF2RA_uc010ncu.2_RNA|CSF2RA_uc011mhc.1_Silent_p.D38D|CSF2RA_uc004cpp.2_Silent_p.D171D|CSF2RA_uc010ncv.2_Silent_p.D171D|CSF2RA_uc004cpr.2_Silent_p.D171D NM_001161529 NP_001155001 P15509 CSF2R_HUMAN colony stimulating factor 2 receptor alpha chain 171 Extracellular (Potential). extracellular region|integral to plasma membrane cytokine receptor activity ovary(2) 2 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ACATACAAGACTCAGGAACCC 0.333 NA 96 61 0 0 0 0 YY2 404281 broad.mit.edu 37 X 21875244 21875244 + Silent SNP G G A TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chrX:21875244G>A uc011mjp.1 + 1 642 c.642G>A c.(640-642)TTG>TTA p.L214L MBTPS2_uc004dae.2_Intron|MBTPS2_uc010nfr.2_Intron|YY2_uc010nfq.2_Silent_p.L432L|MBTPS2_uc004dab.2_Intron NM_206923 NP_996806 O15391 TYY2_HUMAN YY2 transcription factor 214 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|plasma membrane DNA binding|zinc ion binding breast(1)|skin(1) 2 CCGAGTACTTGAAAGGGAAGA 0.483 NA 9 192 0 0 0 0 ACRC 93953 broad.mit.edu 37 X 70823703 70823703 + Silent SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chrX:70823703C>T uc004eae.2 + 8 1077 c.576C>T c.(574-576)AAC>AAT p.N192N BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN ACRC protein 192 Asp/Ser-rich. nucleus ovary(3) 3 Renal(35;0.156) CCGACGACAACAGTGATGATT 0.498 NA 6 245 0 0 0 0 ZNF711 7552 broad.mit.edu 37 X 84502625 84502625 + Missense_Mutation SNP G G T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chrX:84502625G>T uc004eeo.2 + 3 394 c.47G>T c.(46-48)AGA>ATA p.R16I ZNF711_uc004eep.2_Missense_Mutation_p.R16I|ZNF711_uc004eeq.2_Missense_Mutation_p.R16I NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 16 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 CCAGACTCTAGAATGGCCCAT 0.333 NA 20 101 4.35e-09 5e-09 1 0 IRS4 8471 broad.mit.edu 37 X 107978638 107978638 + Missense_Mutation SNP C C T TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chrX:107978638C>T uc004eoc.2 - 1 970 c.937G>A c.(937-939)GAC>AAC p.D313N NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 313 IRS-type PTB. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 ACCACACAGTCATCGACCTGC 0.547 NA 6 169 0 0 0 0 HTATSF1 27336 broad.mit.edu 37 X 135581841 135581841 + Missense_Mutation SNP G G C TCGA-CN-4741-01A-01D-1434-08 TCGA-CN-4741-10A-01D-1434-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 3486c689-d7ae-4ce8-8df5-ac8271b4661d 5c237a40-3697-4c30-99ae-9288b4f7a239 g.chrX:135581841G>C uc004ezw.2 + 3 693 c.271G>C c.(271-273)GAT>CAT p.D91H HTATSF1_uc004ezx.2_Missense_Mutation_p.D91H NM_001163280 NP_001156752 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 91 regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(192;0.000127) AAATGTTGAAGATGTCCATGC 0.443 NA 9 117 0 0 0 0