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 ACHILLES_Top_Genes 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 pox_cutoff isArtifactMode oxoGCut MST1P9 11223 broad.mit.edu 37 1 17085791 17085791 + Missense_Mutation SNP G G A rs2297532 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:17085791G>A uc010ock.1 - 8 1030 c.1030C>T c.(1030-1032)CGT>TGT p.R344C CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_5'UTR NR_002729 SubName: Full=Hepatocyte growth factor-like protein homolog; 0 TCTGTACAACGCCGGATCTGG 0.692 NA 4 23 0 0 0.02938 0 0 KIAA0090 23065 broad.mit.edu 37 1 19545844 19545844 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:19545844T>A uc001bbo.2 - 23 2978 c.2935A>T c.(2935-2937)ACT>TCT p.T979S KIAA0090_uc001bbn.2_RNA|KIAA0090_uc001bbp.2_Missense_Mutation_p.T978S|KIAA0090_uc001bbq.2_Missense_Mutation_p.T978S|KIAA0090_uc001bbr.2_Missense_Mutation_p.T957S NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 979 DUF1620.|Helical; (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) AGTCTCTTAGTGATCATGGTG 0.498 GBM(4;72 124 25802 30195) NA 9 41 0 0 0.010729 0 0 C1orf91 56063 broad.mit.edu 37 1 32682936 32682936 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:32682936C>A uc009vub.1 - 4 255 c.252G>T c.(250-252)GTG>GTT p.V84V C1orf91_uc001buo.3_RNA|C1orf91_uc001bup.3_RNA|C1orf91_uc010oha.1_RNA|C1orf91_uc001buq.3_Silent_p.V84V Q8WY98 TM234_HUMAN RecName: Full=UPF0546 membrane protein C1orf91; 84 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TACAGATGGGCACAGCCAGGG 0.453 NA 7 66 0.000157383 0.000175297 0.038147 1 0 ORC1L 4998 broad.mit.edu 37 1 52867116 52867116 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:52867116G>A uc001ctt.2 - 3 360 c.141C>T c.(139-141)ATC>ATT p.I47I ORC1L_uc010oni.1_Silent_p.I47I|ORC1L_uc001ctu.2_Silent_p.I47I|ORC1L_uc009vzd.2_Intron NM_004153 NP_004144 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 47 BAH. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding 0 GTCCAATCTGGATGTGAATCT 0.408 NA 16 92 0 0 0.028581 0 0 CD1D 912 broad.mit.edu 37 1 158153922 158153922 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:158153922C>T uc001frr.2 + 7 1489 c.990C>T c.(988-990)TCC>TCT p.S330S CD1D_uc009wss.2_Silent_p.S237S NM_001766 NP_001757 P15813 CD1D_HUMAN CD1D antigen precursor 330 Cytoplasmic (Potential). antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection endosome membrane|integral to plasma membrane|lysosomal membrane beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding ovary(1) 1 all_hematologic(112;0.0378) CTCACAGTTCCTATCAGGGCG 0.517 NA 3 110 0 0 0.009096 0 0 PAPPA2 60676 broad.mit.edu 37 1 176564566 176564566 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:176564566G>A uc001gkz.2 + 3 2990 c.1826G>A c.(1825-1827)GGG>GAG p.G609E PAPPA2_uc001gky.1_Missense_Mutation_p.G609E|PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 609 Metalloprotease. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGCTATGATGGGGGTGACTGC 0.587 NA 6 66 0 0 0.021553 0 0 CTSE 1510 broad.mit.edu 37 1 206325297 206325297 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:206325297G>A uc001hdu.2 + 5 640 c.522G>A c.(520-522)CAG>CAA p.Q174Q CTSE_uc001hdv.2_Silent_p.Q174Q|CTSE_uc010prs.1_Silent_p.Q99Q NM_001910 NP_001901 P14091 CATE_HUMAN cathepsin E isoform a preproprotein 179 antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis endosome aspartic-type endopeptidase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.0754) AGCCAGGCCAGACCTTTGTGG 0.532 NA 3 57 0 0 0.004672 0 0 OR2T11 127077 broad.mit.edu 37 1 248790184 248790184 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr1:248790184C>G uc001ier.1 - 1 246 c.246G>C c.(244-246)ATG>ATC p.M82I NM_001001964 NP_001001964 Q8NH01 O2T11_HUMAN olfactory receptor, family 2, subfamily T, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTTTAGAAACCATGTCTGCCA 0.502 NA 14 37 0 0 0.020292 0 0 ITIH5 80760 broad.mit.edu 37 10 7618423 7618423 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:7618423C>T uc001ijq.2 - 10 2050 c.1971G>A c.(1969-1971)ACG>ACA p.T657T ITIH5_uc001ijp.2_Silent_p.T443T|ITIH5_uc001ijr.1_Silent_p.T657T NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 657 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TACCTGGCTGCGTGCCAGCTC 0.682 NA 4 18 0 0 0.009096 0 0 MSRB2 22921 broad.mit.edu 37 10 23408331 23408331 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:23408331G>T uc001iro.2 + 4 506 c.395G>T c.(394-396)CGT>CTT p.R132L NM_012228 NP_036360 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 precursor 132 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 L-Methionine(DB00134) ATCCTGAGACGTCTGGATACC 0.517 Esophageal Squamous(89;1240 1363 4973 30188 42299) NA 8 73 0.00448238 0.00472374 0.004482 1 0 GPR158 57512 broad.mit.edu 37 10 25886922 25886922 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:25886922G>C uc001isj.2 + 11 2427 c.2367G>C c.(2365-2367)AGG>AGC p.R789S GPR158_uc001isk.2_Missense_Mutation_p.R164S NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 789 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 CCCTCATCAGGAAGAACCCCC 0.552 NA 13 67 0 0 0.016723 0 0 BMS1 9790 broad.mit.edu 37 10 43315759 43315759 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:43315759G>A uc001jaj.2 + 16 3014 c.2656G>A c.(2656-2658)GTC>ATC p.V886I NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 886 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 TGGGATGTACGTCCGCATTGA 0.448 NA 15 70 0 0 0.020292 0 0 LRRTM3 347731 broad.mit.edu 37 10 68687143 68687143 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:68687143C>A uc001jmz.1 + 2 1019 c.469C>A c.(469-471)CGG>AGG p.R157R CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.3_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.2_Silent_p.R157R NM_178011 NP_821079 Q86VH5 LRRT3_HUMAN leucine rich repeat transmembrane neuronal 3 157 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 TCGGGGCTTGCGGAAGCTGCT 0.458 NA 16 115 3.32936e-07 4.07252e-07 0.038395 1 0 FAM178A 55719 broad.mit.edu 37 10 102678196 102678196 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:102678196C>T uc001krt.3 + 4 1513 c.971C>T c.(970-972)TCA>TTA p.S324L FAM178A_uc001krr.1_Missense_Mutation_p.S324L|FAM178A_uc001krs.2_Missense_Mutation_p.S324L|FAM178A_uc001kru.1_Missense_Mutation_p.S260L NM_018121 NP_060591 Q8IX21 F178A_HUMAN hypothetical protein LOC55719 isoform 1 324 0 GAACCTACTTCAGGTAGAATC 0.299 NA 20 141 0 0 0.043863 0 0 VENTX 27287 broad.mit.edu 37 10 135053498 135053498 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr10:135053498G>A uc010quy.1 + 3 476 c.465G>A c.(463-465)CTG>CTA p.L155L NM_014468 NP_055283 O95231 VENTX_HUMAN VENT homeobox 155 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05) ACCCCCAGCTGCACAGCCCCT 0.562 NA 13 77 0 0 0.020292 0 0 OR52R1 119695 broad.mit.edu 37 11 4824855 4824855 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:4824855C>A uc010qym.1 - 1 993 c.993G>T c.(991-993)TTG>TTT p.L331F NM_001005177 NP_001005177 Q8NGF1 O52R1_HUMAN olfactory receptor, family 52, subfamily R, 252 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TATAAAGAGCCAAGATGACAC 0.473 NA 14 74 3.27435e-08 4.15358e-08 0.020292 1 0 OR52N1 79473 broad.mit.edu 37 11 5809322 5809322 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:5809322G>T uc010qzo.1 - 1 725 c.725C>A c.(724-726)ACC>AAC p.T242N TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001001913 NP_001001913 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) GGCAGTGCAGGTGCTGAAGGC 0.473 NA 8 60 0.000157383 0.000175297 0.038147 1 0 ST5 6764 broad.mit.edu 37 11 8751902 8751902 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:8751902C>T uc001mgt.2 - 3 1121 c.935G>A c.(934-936)CGG>CAG p.R312Q ST5_uc009yfr.2_Intron|ST5_uc001mgu.2_Intron|ST5_uc001mgv.2_Missense_Mutation_p.R312Q|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Missense_Mutation_p.R312Q NM_213618 NP_998783 P78524 ST5_HUMAN suppression of tumorigenicity 5 isoform 1 312 positive regulation of ERK1 and ERK2 cascade protein binding upper_aerodigestive_tract(1) 1 Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352) CCTTTTCCCCCGGTCCACGCT 0.667 NA 17 71 0 0 0.010504 0 0 OR4A16 81327 broad.mit.edu 37 11 55110891 55110891 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:55110891C>A uc010rie.1 + 1 215 c.215C>A c.(214-216)TCC>TAC p.S72Y NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 72 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 GCCATATATTCCACTGCCATG 0.443 NA 43 155 6.61955e-31 8.97899e-31 0.01441 1 0 OR1S2 219958 broad.mit.edu 37 11 57971611 57971611 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:57971611G>T uc010rkb.1 - 1 43 c.43C>A c.(43-45)CAT>AAT p.H15N NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, 15 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.0589) TTTTCTTGATGCATATTTCTG 0.413 NA 17 95 1.02788e-11 1.32849e-11 0.0333 1 0 MS4A4A 51338 broad.mit.edu 37 11 60070111 60070111 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:60070111C>T uc001noz.2 + 5 477 c.467C>T c.(466-468)GCG>GTG p.A156V MS4A4A_uc001npa.2_Missense_Mutation_p.A137V|MS4A4A_uc001npb.2_Missense_Mutation_p.A137V|MS4A4A_uc001npc.2_Intron NM_148975 NP_683876 Q96JQ5 M4A4A_HUMAN membrane-spanning 4-domains, subfamily A, member 156 Helical; (Potential). integral to membrane receptor activity 0 TTTAGCTTGGCGTTTTATTCA 0.403 NA 8 105 0 0 0.038147 0 0 DNAJC4 3338 broad.mit.edu 37 11 63999376 63999376 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:63999376G>A uc001nys.2 + 3 582 c.120G>A c.(118-120)GGG>GGA p.G40G uc001nyr.1_5'Flank|DNAJC4_uc001nyt.2_Silent_p.G40G|DNAJC4_uc001nyu.2_Silent_p.G40G|VEGFB_uc001nyw.2_5'Flank|VEGFB_uc001nyx.2_5'Flank NM_005528 NP_005519 Q9NNZ3 DNJC4_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 4 40 J. protein folding|response to unfolded protein integral to membrane|membrane fraction heat shock protein binding|unfolded protein binding 0 AACTGTTGGGGGTGCATCCTG 0.552 NA 7 55 0 0 0.038147 0 0 CAPN5 726 broad.mit.edu 37 11 76829343 76829343 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:76829343A>G uc001oxx.2 + 8 1297 c.1112A>G c.(1111-1113)CAG>CGG p.Q371R CAPN5_uc009yup.2_Missense_Mutation_p.Q411R|CAPN5_uc009yuq.2_Missense_Mutation_p.Q407R|CAPN5_uc001oxy.2_Missense_Mutation_p.Q411R|CAPN5_uc001oya.2_5'Flank NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 371 Domain III. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 GACCCGCGACAGAACCGCGGT 0.632 NA 3 18 0 0 0.004672 0 0 USP28 57646 broad.mit.edu 37 11 113702712 113702712 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:113702712C>T uc001poh.2 - 8 796 c.763G>A c.(763-765)GAT>AAT p.D255N USP28_uc001pog.2_5'Flank|USP28_uc010rwy.1_Missense_Mutation_p.D130N|USP28_uc001poi.2_Splice_Site|USP28_uc001poj.3_Missense_Mutation_p.D255N|USP28_uc010rwz.1_Intron NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 255 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) TCACTCACATCTTGCTATAAG 0.363 Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765) NA 4 23 0 0 0.009096 0 0 C3AR1 719 broad.mit.edu 37 12 8211605 8211605 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:8211605A>G uc001qtv.1 - 2 1269 c.1177T>C c.(1177-1179)TAC>CAC p.Y393H NM_004054 NP_004045 Q16581 C3AR_HUMAN complement component 3a receptor 1 393 Helical; Name=6; (Potential). blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity ovary(1) 1 Kidney(36;0.0893) AAAATGTGGTATGGAGTCCAG 0.512 NA 5 34 0 0 0.021553 0 0 ABCD2 225 broad.mit.edu 37 12 39947886 39947886 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:39947886C>T uc001rmb.2 - 10 2477 c.2051G>A c.(2050-2052)CGC>CAC p.R684H NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 684 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TTGTTCAAAGCGCCAACCTCC 0.348 NA 6 84 0 0 0.021553 0 0 MON2 23041 broad.mit.edu 37 12 62938755 62938755 + Silent SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:62938755A>T uc001sre.2 + 21 2935 c.2544A>T c.(2542-2544)ACA>ACT p.T848T MON2_uc009zqj.2_Silent_p.T848T|MON2_uc010ssl.1_Silent_p.T776T|MON2_uc010ssm.1_Silent_p.T825T|MON2_uc010ssn.1_Silent_p.T848T|MON2_uc001srf.2_Silent_p.T611T NM_015026 NP_055841 Q7Z3U7 MON2_HUMAN MON2 homolog 849 Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) CAGGATTAACATTTAACCATG 0.333 NA 12 51 0 0 0.020292 0 0 TMEM19 55266 broad.mit.edu 37 12 72091178 72091178 + Nonsense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:72091178C>A uc001sws.2 + 4 1084 c.501C>A c.(499-501)TAC>TAA p.Y167* TMEM19_uc001swr.1_Nonsense_Mutation_p.Y153*|TMEM19_uc009zru.1_RNA NM_018279 NP_060749 Q96HH6 TMM19_HUMAN transmembrane protein 19 167 integral to membrane 0 Breast(359;0.0889) GBM - Glioblastoma multiforme(134;0.044) CCAAGCAGTACTCCGCTTCCT 0.512 NA 19 85 2.32416e-17 3.09136e-17 0.014323 1 0 NR1H4 9971 broad.mit.edu 37 12 100928726 100928726 + Silent SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:100928726T>C uc001tht.1 + 4 715 c.687T>C c.(685-687)CAT>CAC p.H229H NR1H4_uc001thp.1_Silent_p.H215H|NR1H4_uc001thq.1_Silent_p.H219H|NR1H4_uc010svj.1_RNA|NR1H4_uc001thr.1_Silent_p.H219H|NR1H4_uc010svk.1_Silent_p.H168H|NR1H4_uc001ths.1_Silent_p.H225H NM_005123 NP_005114 Q96RI1 NR1H4_HUMAN nuclear receptor subfamily 1, group H, member 4 229 bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1)|lung(1)|skin(1) 3 TGAAGCAGCATGCAGATCAGA 0.413 NA 13 60 0 0 0.016723 0 0 UBC 7316 broad.mit.edu 37 12 125397791 125397791 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:125397791T>G uc001ugs.3 - 2 975 c.527A>C c.(526-528)GAG>GCG p.E176A UBC_uc001ugr.2_5'Flank|UBC_uc001ugu.1_Missense_Mutation_p.E176A|UBC_uc001ugt.2_Missense_Mutation_p.E176A|UBC_uc001ugv.2_Intron|UBC_uc001ugw.2_Missense_Mutation_p.E24A NM_021009 NP_066289 P0CG48 UBC_HUMAN ubiquitin C 176 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding ovary(2) 2 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CTTGACATTCTCGATGGTGTC 0.527 NA 10 142 0 0 0.020292 0 0 ZNF10 7556 broad.mit.edu 37 12 133727632 133727632 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr12:133727632G>T uc009zzb.2 + 3 499 c.52G>T c.(52-54)GAT>TAT p.D18Y ZNF268_uc010tbv.1_5'UTR|ZNF10_uc001ulq.2_Missense_Mutation_p.D18Y NM_015394 NP_056209 P21506 ZNF10_HUMAN zinc finger protein 10 18 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GACCTTCAAGGATGTATTTGT 0.458 NA 13 81 0.000219431 0.000242436 0.020292 1 0 OLFM4 10562 broad.mit.edu 37 13 53624329 53624329 + Missense_Mutation SNP G G A rs144683972 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr13:53624329G>A uc001vhl.2 + 5 956 c.956G>A c.(955-957)CGA>CAA p.R319Q OLFM4_uc001vhk.1_Intron NM_006418 NP_006409 Q6UX06 OLFM4_HUMAN olfactomedin 4 precursor 319 Olfactomedin-like. cell adhesion extracellular space skin(1) 1 Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.13e-08) ATAAATGCTCGAGAGTTGCGG 0.433 NA 4 88 0 0 0.009096 0 0 COL4A1 1282 broad.mit.edu 37 13 110822018 110822018 + Silent SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr13:110822018A>G uc001vqw.3 - 43 3956 c.3834T>C c.(3832-3834)GGT>GGC p.G1278G COL4A1_uc010agl.2_Intron NM_001845 NP_001836 P02462 CO4A1_HUMAN alpha 1 type IV collagen preproprotein 1278 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GCCCTGGGACACCGGGTGCTC 0.512 NA 15 81 0 0 0.043863 0 0 FITM1 161247 broad.mit.edu 37 14 24600930 24600930 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr14:24600930G>C uc001wmf.2 + 1 256 c.158G>C c.(157-159)CGG>CCG p.R53P NM_203402 NP_981947 A5D6W6 FITM1_HUMAN fat-inducing transcript 1 53 Extracellular (Potential). lipid particle organization|positive regulation of sequestering of triglyceride endoplasmic reticulum membrane|integral to membrane 0 CCCTGCTTACGGCGCCTCTAC 0.627 NA 4 42 0 0 0.009096 0 0 RIPK3 11035 broad.mit.edu 37 14 24808294 24808294 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr14:24808294T>A uc001wpb.2 - 3 608 c.398A>T c.(397-399)GAC>GTC p.D133V RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.D133V NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 133 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity central_nervous_system(2)|ovary(1)|lung(1) 4 GBM - Glioblastoma multiforme(265;0.0181) CGGGTTCTGGTCGTGCAGGTA 0.637 Pancreas(58;918 1191 4668 13304 15331) NA 5 50 0 0 0.014758 0 0 ARID4A 5926 broad.mit.edu 37 14 58831476 58831476 + Missense_Mutation SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr14:58831476T>C uc001xdp.2 + 20 2923 c.2669T>C c.(2668-2670)ATT>ACT p.I890T ARID4A_uc001xdo.2_Missense_Mutation_p.I890T|ARID4A_uc001xdq.2_Missense_Mutation_p.I890T|ARID4A_uc010apg.1_Missense_Mutation_p.I568T NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 890 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 AGTGATTGTATTGGATCTGAG 0.353 NA 3 38 0 0 0.009096 0 0 SPG11 80208 broad.mit.edu 37 15 44955626 44955627 + Missense_Mutation DNP CC CC AA TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:44955626_44955627CC>AA uc001ztx.2 - 1 250_251 c.219_220GG>TT c.(217-222)CGGGGC>CGTTGC p.G74C SPG11_uc010ueh.1_Missense_Mutation_p.G74C|SPG11_uc010uei.1_Missense_Mutation_p.G74C|SPG11_uc001zua.1_Missense_Mutation_p.G74C NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN spatacsin isoform 1 74 Extracellular (Potential). cell death cytosol|integral to membrane|nucleus protein binding ovary(4)|skin(1) 5 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) CGACCCCCGCCCCGGCTGCCAG 0.698 NA 3 10 0 0 0.004672 0 0 FANCI 55215 broad.mit.edu 37 15 89811675 89811676 + Nonsense_Mutation DNP GG GG CT TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:89811675_89811676GG>CT uc010bnp.1 + 10 891_892 c.801_802GG>CT c.(799-804)GTGGAA>GTCTAA p.E268* FANCI_uc002bnm.1_Nonsense_Mutation_p.E268*|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Nonsense_Mutation_p.E89* NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 268 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCGTCATGTGGAAGGCACCAT 0.351 NA Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 18 150 0 0 0.004672 0 0 SPATA8 145946 broad.mit.edu 37 15 97327418 97327418 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr15:97327418G>T uc002bue.2 + 2 335 c.125G>T c.(124-126)TGT>TTT p.C42F uc010urp.1_5'Flank|uc002bud.1_5'Flank NM_173499 NP_775770 Q6RVD6 SPAT8_HUMAN spermatogenesis associated 8 42 ovary(1)|skin(1) 2 Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468) OV - Ovarian serous cystadenocarcinoma(32;0.0718) GCCATGACATGTCCCTGCGGC 0.592 NA 12 67 9.31168e-06 1.09974e-05 0.016723 1 0 TPSAB1 7177 broad.mit.edu 37 16 1291189 1291189 + Missense_Mutation SNP G G A rs143010092 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:1291189G>A uc002ckz.2 + 3 149 c.97G>A c.(97-99)GGG>AGG p.G33R TPSAB1_uc010uux.1_5'UTR NM_003294 NP_003285 Q15661 TRYB1_HUMAN tryptase alpha/beta 1 precursor 33 Peptidase S1. defense response|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) GGGCATCGTCGGGGGTCAGGA 0.701 NA 4 44 0 0 0.02938 0 0 TPSAB1 7177 broad.mit.edu 37 16 1291244 1291244 + Missense_Mutation SNP A A G rs150845192 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:1291244A>G uc002ckz.2 + 3 204 c.152A>G c.(151-153)CAC>CGC p.H51R TPSAB1_uc010uux.1_5'UTR NM_003294 NP_003285 Q15661 TRYB1_HUMAN tryptase alpha/beta 1 precursor 51 Peptidase S1. defense response|proteolysis extracellular space protein binding|serine-type endopeptidase activity 0 Hepatocellular(780;0.00369) CTGAGAGTCCACGGCCCATAC 0.711 NA 5 71 0 0 0.008291 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1798647 1798647 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:1798647A>G uc002cmk.2 + 8 1259 c.1139A>G c.(1138-1140)GAC>GGC p.D380G MAPK8IP3_uc002cml.2_Missense_Mutation_p.D380G|MAPK8IP3_uc010uvl.1_Missense_Mutation_p.D381G NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 380 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 ATCAACACCGACTCCCTGTAC 0.627 NA 5 36 0 0 0.021553 0 0 PRSS22 64063 broad.mit.edu 37 16 2906186 2906186 + Nonsense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr16:2906186C>A uc002cry.1 - 3 244 c.178G>T c.(178-180)GAG>TAG p.E60* PRSS22_uc002crz.1_Nonsense_Mutation_p.E60* NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 60 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 CAGGGCCACTCGCTGTCAGTG 0.602 NA 10 47 0.00829132 0.00867107 0.008291 1 0 CHD3 1107 broad.mit.edu 37 17 7809897 7809897 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:7809897A>G uc002gje.2 + 29 4535 c.4385A>G c.(4384-4386)CAT>CGT p.H1462R CHD3_uc002gjd.2_Missense_Mutation_p.H1521R|CHD3_uc002gjf.2_Missense_Mutation_p.H1462R|CHD3_uc002gjh.2_Missense_Mutation_p.H38R|CHD3_uc002gjj.2_5'Flank NM_001005273 NP_001005273 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1462 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(1) 1 Prostate(122;0.202) TTCATGCGCCATCTGTGTGAG 0.612 NA 12 82 0 0 0.020292 0 0 C17orf103 256302 broad.mit.edu 37 17 21146727 21146727 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:21146727C>T uc010vzx.1 - 4 243 c.241G>A c.(241-243)GTG>ATG p.V81M NM_152914 NP_690878 Q8N6N6 GTL3B_HUMAN transcript expressed during hematopoiesis 2 81 0 TCCTCCACCACGAAGTCCAGG 0.657 NA 4 38 0 0 0.009096 0 0 KRT31 3881 broad.mit.edu 37 17 39552755 39552755 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:39552755G>C uc002hwn.2 - 3 558 c.505C>G c.(505-507)CTG>GTG p.L169V KRT31_uc010cxn.2_Missense_Mutation_p.L169V NM_002277 NP_002268 Q15323 K1H1_HUMAN keratin 31 169 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000496) CACAGGGTCAGCTCATCCAGG 0.597 NA 6 54 0 0 0.038147 0 0 KRT35 3886 broad.mit.edu 37 17 39636983 39636983 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:39636983C>A uc002hws.2 - 1 410 c.367G>T c.(367-369)GCC>TCC p.A123S NM_002280 NP_002271 Q92764 KRT35_HUMAN keratin 35 123 Rod.|Coil 1A. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity ovary(1)|skin(1) 2 Breast(137;0.000286) TCCAGGCTGGCGTTCTCCTGC 0.612 NA 7 97 0.000157383 0.000175297 0.038147 1 0 BRCA1 672 broad.mit.edu 37 17 41245544 41245544 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:41245544G>A uc002icq.2 - 10 2236 c.2004C>T c.(2002-2004)CTC>CTT p.L668L BRCA1_uc010whp.1_Intron|BRCA1_uc010whl.1_Intron|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Silent_p.L597L|BRCA1_uc002icu.2_Intron|BRCA1_uc010cyx.2_Silent_p.L621L|BRCA1_uc002ict.2_Silent_p.L668L|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.2_Silent_p.L668L|BRCA1_uc002ide.1_Silent_p.L499L|BRCA1_uc010cyy.1_Silent_p.L668L|BRCA1_uc010whs.1_Silent_p.L668L|BRCA1_uc010cyz.2_Silent_p.L621L|BRCA1_uc010cza.2_Silent_p.L642L|BRCA1_uc010wht.1_Silent_p.L372L NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 668 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) TACCTTCCATGAGTTGTAGGT 0.398 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 13 93 0 0 0.016723 0 0 CACNG4 27092 broad.mit.edu 37 17 65021068 65021068 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:65021068C>A uc002jft.1 + 3 412 c.397C>A c.(397-399)CGC>AGC p.R133S NM_014405 NP_055220 Q9UBN1 CCG4_HUMAN voltage-dependent calcium channel gamma-4 133 Cytoplasmic (Potential). membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane voltage-gated calcium channel activity central_nervous_system(1) 1 all_cancers(12;9.86e-11) BRCA - Breast invasive adenocarcinoma(6;1.35e-07) GATCTACAGCCGCAAGAACAA 0.672 NA 4 75 0.000602214 0.000644558 0.014758 1 0 SLC25A10 1468 broad.mit.edu 37 17 79682037 79682037 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr17:79682037C>T uc002kbi.2 + 2 234 c.148C>T c.(148-150)CGG>TGG p.R50W SLC25A10_uc010wut.1_Missense_Mutation_p.R205W|SLC25A10_uc010dif.2_Missense_Mutation_p.R50W|SLC25A10_uc010wuu.1_Missense_Mutation_p.R4W NM_012140 NP_036272 Q9UBX3 DIC_HUMAN solute carrier family 25 (mitochondrial carrier; 50 Solcar 1. gluconeogenesis|mitochondrial transport integral to membrane|mitochondrial inner membrane|nucleus protein binding 0 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) Succinic acid(DB00139) CATGGCGCTGCGGGTGGTGCG 0.667 NA 8 32 0 0 0.004482 0 0 SLC39A6 25800 broad.mit.edu 37 18 33694106 33694106 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr18:33694106C>A uc010dmy.2 - 7 2087 c.1797G>T c.(1795-1797)GTG>GTT p.V599V SLC39A6_uc002kzj.2_Silent_p.V324V NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 599 Cytoplasmic (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 CACCCATTATCACCATCCAGG 0.343 NA 5 60 3.59834e-05 4.1081e-05 0.021553 1 0 XAB2 56949 broad.mit.edu 37 19 7691039 7691039 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:7691039C>T uc002mgx.2 - 5 666 c.640G>A c.(640-642)GGC>AGC p.G214S NM_020196 NP_064581 Q9HCS7 SYF1_HUMAN XPA binding protein 2 214 HAT 6. transcription, DNA-dependent|transcription-coupled nucleotide-excision repair catalytic step 2 spliceosome|nucleoplasm protein binding central_nervous_system(2)|breast(1)|skin(1) 4 TTGGACTTGCCGGCCTTAGAC 0.642 NA Direct_reversal_of_damage|NER 3 108 0 0 0.004672 0 0 S1PR2 9294 broad.mit.edu 37 19 10334757 10334757 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:10334757G>A uc002mnl.2 - 2 936 c.825C>T c.(823-825)GCC>GCT p.A275A NM_004230 NP_004221 O95136 S1PR2_HUMAN endothelial differentiation, sphingolipid 275 Helical; Name=7; (By similarity). activation of MAPK activity|positive regulation of cell proliferation integral to membrane|plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|central_nervous_system(1) 2 GGGTGGAGACGGCGAAAAAGT 0.632 Pancreas(194;229 3020 15179 45747) NA 5 28 0 0 0.021553 0 0 SMARCA4 6597 broad.mit.edu 37 19 11100015 11100015 + Nonsense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:11100015C>T uc002mqf.3 + 7 1425 c.1141C>T c.(1141-1143)CGA>TGA p.R381* SMARCA4_uc010dxp.2_Nonsense_Mutation_p.R381*|SMARCA4_uc010dxo.2_Nonsense_Mutation_p.R381*|SMARCA4_uc002mqg.1_Nonsense_Mutation_p.R381*|SMARCA4_uc010dxq.2_Nonsense_Mutation_p.R381*|SMARCA4_uc010dxr.2_Nonsense_Mutation_p.R381*|SMARCA4_uc002mqj.3_Nonsense_Mutation_p.R381*|SMARCA4_uc010dxs.2_Nonsense_Mutation_p.R381*|SMARCA4_uc002mqe.2_Nonsense_Mutation_p.R381* NM_003072 NP_003063 P51532 SMCA4_HUMAN SWI/SNF-related matrix-associated 381 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1) 67 all_lung(6;0.0512)|Lung NSC(9;0.0568) CATCGCACACCGAATTCAGGA 0.607 NA F|N|Mis NSCLC Rhabdoid_Predisposition_syndrome 19 85 0 0 0.008871 0 0 CPAMD8 27151 broad.mit.edu 37 19 17058020 17058020 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:17058020C>T uc002nfb.2 - 21 2699 c.2667G>A c.(2665-2667)TCG>TCA p.S889S NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 842 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 CCTTGGGAACCGAGAGCTTCA 0.607 NA 12 132 0 0 0.016723 0 0 HOMER3 9454 broad.mit.edu 37 19 19042357 19042357 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:19042357C>T uc002nku.2 - 7 1421 c.768G>A c.(766-768)TCG>TCA p.S256S HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Silent_p.S220S|HOMER3_uc010ebz.2_Silent_p.S256S|HOMER3_uc002nkw.2_Silent_p.S256S|HOMER3_uc002nkv.2_Silent_p.S256S NM_004838 NP_004829 Q9NSC5 HOME3_HUMAN Homer, neuronal immediate early gene, 3 isoform 256 Potential. metabotropic glutamate receptor signaling pathway|protein targeting cell junction|cytoplasm|postsynaptic density|postsynaptic membrane protein binding 0 Epithelial(12;0.0107) GCTGTTCCAGCGACTGGCCCT 0.637 NA 5 100 0 0 0.014758 0 0 ZNF486 90649 broad.mit.edu 37 19 20308637 20308637 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:20308637C>T uc002nou.2 + 4 1175 c.1118C>T c.(1117-1119)ACT>ATT p.T373I NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 373 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 ATAATTCATACTGGAGAGAAA 0.433 NA 8 49 0 0 0.004482 0 0 CCNE1 898 broad.mit.edu 37 19 30312666 30312666 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:30312666T>A uc002nsn.2 + 8 830 c.647T>A c.(646-648)GTG>GAG p.V216E CCNE1_uc002nso.2_Missense_Mutation_p.V201E|CCNE1_uc002nsp.2_5'UTR NM_001238 NP_001229 P24864 CCNE1_HUMAN cyclin E1 isoform 1 216 androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle cytosol|nucleoplasm androgen receptor binding|protein kinase binding|transcription coactivator activity lung(2) 2 all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195) UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202) TTTGCGTATGTGACAGATGGA 0.388 NA 6 55 0 0 0.02938 0 0 ZNF536 9745 broad.mit.edu 37 19 31025842 31025842 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:31025842C>G uc002nsu.1 + 3 2397 c.2259C>G c.(2257-2259)TGC>TGG p.C753W ZNF536_uc010edd.1_Missense_Mutation_p.C753W NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 753 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) TGAAGGACTGCCCGTACTGTG 0.602 NA 8 124 0 0 0.038147 0 0 FCGBP 8857 broad.mit.edu 37 19 40408275 40408275 + Missense_Mutation SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:40408275A>T uc002omp.3 - 8 4572 c.4564T>A c.(4564-4566)TGG>AGG p.W1522R NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 1522 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TCAGTCCTCCAGGGCTCCACG 0.622 NA 44 54 0 0 0.036044 0 0 ZNF155 7711 broad.mit.edu 37 19 44495759 44495760 + Missense_Mutation DNP GG GG AA TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:44495759_44495760GG>AA uc002oxy.1 + 3 280_281 c.75_76GG>AA c.(73-78)CTGGAC>CTAAAC p.D26N ZNF155_uc002oxz.1_Missense_Mutation_p.D26N|ZNF155_uc010xwt.1_Missense_Mutation_p.D37N NM_003445 NP_003436 Q12901 ZN155_HUMAN zinc finger protein 155 26 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(69;0.0352) TGGGGCTGCTGGACCCTGCCCA 0.52 NSCLC(61;554 1277 20909 42067 42312) NA 54 180 0 0 0.004672 0 0 ZNF223 7766 broad.mit.edu 37 19 44570427 44570427 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:44570427A>G uc002oyf.1 + 5 699 c.446A>G c.(445-447)AAT>AGT p.N149S ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 149 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) AAACCTTCCAATTGTGGGAAG 0.448 NA 4 150 0 0 0.009096 0 0 C5AR1 728 broad.mit.edu 37 19 47823129 47823129 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:47823129C>T uc002pgj.1 + 2 144 c.95C>T c.(94-96)ACG>ATG p.T32M NM_001736 NP_001727 P21730 C5AR_HUMAN complement component 5 receptor 1 32 Extracellular (Potential). activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) ACTTCTAACACGCTGCGTGTT 0.532 NA 11 48 0 0 0.008291 0 0 LRRC4B 94030 broad.mit.edu 37 19 51022162 51022162 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:51022162G>A uc002pss.2 - 3 945 c.808C>T c.(808-810)CGC>TGC p.R270C NM_001080457 NP_001073926 Q9NT99 LRC4B_HUMAN leucine rich repeat containing 4B precursor 270 Extracellular (Potential).|LRR 8. cell junction|integral to membrane|presynaptic membrane central_nervous_system(1)|skin(1) 2 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188) AAGGCGTTGCGCTCGATGGTG 0.657 NA 15 56 0 0 0.0333 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52148735 52148735 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:52148735C>A uc002pxf.3 - 4 869 c.749G>T c.(748-750)GGC>GTC p.G250V NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN sialic acid binding Ig-like lectin 14 precursor 250 Extracellular (Potential).|Ig-like C2-type 2. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding ovary(1) 1 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) CCTACCTGTGCCTGTGCCATT 0.552 NA 8 27 0.00448238 0.00472374 0.004482 1 0 TTYH1 57348 broad.mit.edu 37 19 54937858 54937858 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:54937858C>T uc002qfq.2 + 5 739 c.647C>T c.(646-648)GCC>GTC p.A216V TTYH1_uc010yey.1_Missense_Mutation_p.A265V|TTYH1_uc002qfr.2_Missense_Mutation_p.A216V|TTYH1_uc002qft.2_Missense_Mutation_p.A216V|TTYH1_uc002qfu.1_Missense_Mutation_p.A128V NM_020659 NP_065710 Q9H313 TTYH1_HUMAN tweety 1 isoform 1 216 Helical; Name=3; (Potential). cell adhesion chloride channel complex|plasma membrane chloride channel activity|iron ion transmembrane transporter activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0767) AGGTGGCTGGCCTACGTCCTC 0.647 NA 9 88 0 0 0.010729 0 0 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr19:58385546G>T uc002qqo.2 - 3 1484 c.1212C>A c.(1210-1212)GAC>GAA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.1_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN zinc finger protein 814 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 AATGTTTTTTGTCAGTGTGAA 0.393 NA 4 20 2.56e-06 3.07649e-06 0.009096 1 0 C2orf70 339778 broad.mit.edu 37 2 26802211 26802211 + Missense_Mutation SNP G G A rs147381361 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:26802211G>A uc010eyn.2 + 4 511 c.511G>A c.(511-513)GAG>AAG p.E171K NM_001105519 NP_001098989 A6NJV1 CB070_HUMAN hypothetical protein LOC339778 171 skin(1) 1 ACTAGCCCCCGAGAACCTGAA 0.532 NA 13 46 0 0 0.016723 0 0 AUP1 550 broad.mit.edu 37 2 74755588 74755588 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:74755588C>T uc010yrx.1 - 4 850 c.724G>A c.(724-726)GTA>ATA p.V242I DQX1_uc010yrw.1_5'Flank|AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_Missense_Mutation_p.V185I|AUP1_uc002smg.2_RNA|AUP1_uc002smh.2_Missense_Mutation_p.V94I|HTRA2_uc002smi.1_5'Flank|HTRA2_uc002smj.1_5'Flank|HTRA2_uc002smk.1_5'Flank|HTRA2_uc002sml.1_5'Flank|HTRA2_uc002smm.1_5'Flank|HTRA2_uc002smn.1_5'Flank|HTRA2_uc010ffl.2_5'Flank Q9Y679 AUP1_HUMAN SubName: Full=cDNA FLJ57204, highly similar to Homo sapiens ancient ubiquitous protein 1 (AUP1), transcript variant 2, mRNA; 251 Cytoplasmic (Potential). endoplasmic reticulum membrane|integral to membrane|nucleus protein binding 0 AGAGGTTGTACCACATCTTGG 0.502 NA 7 32 0 0 0.02938 0 0 KCNH7 90134 broad.mit.edu 37 2 163291819 163291819 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:163291819C>A uc002uch.1 - 8 2055 c.1843G>T c.(1843-1845)GTC>TTC p.V615F KCNH7_uc002uci.2_Missense_Mutation_p.V608F NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 615 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AGTGCTGTGACGTATTTGTCT 0.398 GBM(196;1492 2208 17507 24132 45496) NA 10 80 2.17888e-05 2.55133e-05 0.006214 1 0 HECW2 57520 broad.mit.edu 37 2 197298051 197298051 + Missense_Mutation SNP C C T rs151108819 byFrequency TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:197298051C>T uc002utm.1 - 2 280 c.97G>A c.(97-99)GCC>ACC p.A33T NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 33 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 GAGCTCTGGGCGGCAAGGCTC 0.597 NA 9 46 0 0 0.006214 0 0 STK11IP 114790 broad.mit.edu 37 2 220476447 220476447 + Silent SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr2:220476447C>T uc002vml.2 + 18 2302 c.2259C>T c.(2257-2259)GCC>GCT p.A753A NM_052902 NP_443134 Q8N1F8 S11IP_HUMAN LKB1 interacting protein 753 protein localization cytoplasm protein kinase binding ovary(1) 1 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTCCGTCTGCCAGCCCTGTCT 0.627 NA 4 49 0 0 0.009096 0 0 SIGLEC1 6614 broad.mit.edu 37 20 3686514 3686514 + Missense_Mutation SNP C C T rs111336308 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr20:3686514C>T uc002wja.2 - 3 583 c.583G>A c.(583-585)GGC>AGC p.G195S SIGLEC1_uc002wiz.3_Missense_Mutation_p.G195S|SIGLEC1_uc002wjc.2_Missense_Mutation_p.G106S NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 195 Ig-like C2-type 1.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 TGGCCGACGCCGGTGGGCTCA 0.642 NA 14 105 0 0 0.024245 0 0 CD93 22918 broad.mit.edu 37 20 23065344 23065344 + Missense_Mutation SNP G G T rs148539804 TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr20:23065344G>T uc002wsv.2 - 1 1634 c.1486C>A c.(1486-1488)CGT>AGT p.R496S NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 496 Extracellular (Potential). R -> Q (in Ref. 1; AA sequence). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GTTGCAGCACGGGGCACGGTG 0.622 NA 10 51 1.08611e-07 1.34051e-07 0.010729 1 0 TMPRSS15 5651 broad.mit.edu 37 21 19653418 19653418 + Missense_Mutation SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr21:19653418A>T uc002ykw.2 - 22 2638 c.2607T>A c.(2605-2607)AAT>AAA p.N869K NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 869 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 TTCTTCGCCTATTGTAATGAG 0.378 NA 14 163 0 0 0.024245 0 0 CDCP1 64866 broad.mit.edu 37 3 45134848 45134848 + Silent SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr3:45134848G>T uc003com.2 - 6 1683 c.1548C>A c.(1546-1548)ACC>ACA p.T516T NM_022842 NP_073753 Q9H5V8 CDCP1_HUMAN CUB domain-containing protein 1 isoform 1 516 CUB.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane ovary(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) AGGTGCGAAGGGTCACCGAGA 0.572 NA 5 84 3.59834e-05 4.1081e-05 0.021553 1 0 LRRC31 79782 broad.mit.edu 37 3 169587661 169587661 + Splice_Site SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr3:169587661C>T uc003fgc.1 - 1 13 c.-64_splice c.e1-1 LRRC31_uc010hwp.1_Splice_Site NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TCTAGGATTTCTAAGAAGAAA 0.438 NA 8 19 0 0 0.038147 0 0 SDHAP2 727956 broad.mit.edu 37 3 195400728 195400728 + Silent SNP A A G rs12107841 by1000genomes TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr3:195400728A>G uc003fuw.2 + 9 1218 c.24A>G c.(22-24)CCA>CCG p.P8P SDHAP2_uc011btb.1_Missense_Mutation_p.S156G|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GATTGTGCCCAGCCTGTACGC 0.587 NA 4 37 0 0 0.014758 0 0 KLHL8 57563 broad.mit.edu 37 4 88106793 88106793 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:88106793G>A uc011cdb.1 - 3 760 c.375C>T c.(373-375)GTC>GTT p.V125V KLHL8_uc003hql.1_Silent_p.V125V|KLHL8_uc003hqm.1_Intron|KLHL8_uc003hqn.1_Intron|KLHL8_uc010ikj.1_Intron NM_020803 NP_065854 Q9P2G9 KLHL8_HUMAN kelch-like 8 125 BTB. 0 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.000603) GTGAAGAATAGACAAACTTTA 0.418 NA 5 48 0 0 0.021553 0 0 SEC24D 9871 broad.mit.edu 37 4 119736190 119736190 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:119736190G>C uc003ici.3 - 6 1066 c.794C>G c.(793-795)CCT>CGT p.P265R SEC24D_uc003icj.3_Missense_Mutation_p.P266R|SEC24D_uc003icl.2_RNA|SEC24D_uc010imz.1_RNA|SEC24D_uc011cgg.1_RNA NM_014822 NP_055637 O94855 SC24D_HUMAN Sec24-related protein D 265 Pro-rich. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding 0 TACTGGGCTAGGGATAGAGTC 0.502 NA 8 87 0 0 0.006214 0 0 GRIA2 2891 broad.mit.edu 37 4 158238861 158238861 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:158238861C>G uc003ipm.3 + 5 1177 c.718C>G c.(718-720)CTG>GTG p.L240V GRIA2_uc011cit.1_Missense_Mutation_p.L193V|GRIA2_uc003ipl.3_Missense_Mutation_p.L240V|GRIA2_uc003ipk.3_Missense_Mutation_p.L193V|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 240 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) CATTGCAAATCTGGTAGGTGA 0.249 NA 4 32 0 0 0.014758 0 0 TAS2R1 50834 broad.mit.edu 37 5 9629646 9629646 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:9629646G>T uc003jem.1 - 1 818 c.499C>A c.(499-501)CAA>AAA p.Q167K NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 167 Extracellular (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 TCTTCTTTTTGAATTGTGGCA 0.358 NA 5 52 3.59834e-05 4.1081e-05 0.021553 1 0 ADAMTS12 81792 broad.mit.edu 37 5 33891898 33891898 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:33891898C>A uc003jia.1 - 1 227 c.64G>T c.(64-66)GGG>TGG p.G22W ADAMTS12_uc010iuq.1_Missense_Mutation_p.G22W|ADAMTS12_uc003jib.1_Missense_Mutation_p.G22W NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 22 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 CAAAGCGCCCCAAAGTTAAGG 0.498 NA HNSCC(64;0.19) 14 106 0.000308642 0.000335587 0.024245 1 0 PCDHGA3 56112 broad.mit.edu 37 5 140725167 140725167 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:140725167G>A uc003ljm.1 + 1 1567 c.1567G>A c.(1567-1569)GAG>AAG p.E523K PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc010jfx.1_Missense_Mutation_p.E283K|PCDHGA3_uc011dap.1_Missense_Mutation_p.E523K NM_018916 NP_061739 Q9Y5H0 PCDG3_HUMAN protocadherin gamma subfamily A, 3 isoform 1 523 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCGACTACGAGCAATTTAG 0.562 NA 16 109 0 0 0.028581 0 0 ARHGAP26 23092 broad.mit.edu 37 5 142264928 142264928 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:142264928T>G uc011dbj.1 + 5 485 c.450T>G c.(448-450)AAT>AAG p.N150K ARHGAP26_uc003lmt.2_Missense_Mutation_p.N150K|ARHGAP26_uc003lmw.2_Missense_Mutation_p.N150K NM_015071 NP_055886 Q9UNA1 RHG26_HUMAN GTPase regulator associated with the focal 150 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding ovary(1) 1 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AACACTTGAATTTGTCTTCCA 0.338 NA 10 43 0 0 0.013537 0 0 HAVCR2 84868 broad.mit.edu 37 5 156535979 156535979 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr5:156535979G>A uc003lwk.1 - 1 160 c.16C>T c.(16-18)CCC>TCC p.P6S HAVCR2_uc003lwl.2_Missense_Mutation_p.P6S NM_032782 NP_116171 Q8TDQ0 HAVR2_HUMAN T cell immunoglobulin mucin 3 precursor 6 integral to membrane 0 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CAGTCAAAGGGAAGATGTGAA 0.358 NA 9 51 0 0 0.006214 0 0 RNF144B 255488 broad.mit.edu 37 6 18457500 18457500 + Missense_Mutation SNP A A G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:18457500A>G uc003ncs.2 + 5 750 c.446A>G c.(445-447)CAC>CGC p.H149R NM_182757 NP_877434 Q7Z419 R144B_HUMAN IBR domain containing 2 149 IBR-type. apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding 0 Ovarian(93;0.00365)|Breast(50;0.0145) all_hematologic(90;0.0536) OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105) CCTTCTTGCCACCTGAAATTC 0.552 NA 25 290 0 0 0.030593 0 0 TRIM10 10107 broad.mit.edu 37 6 30128630 30128630 + Silent SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:30128630G>T uc003npo.3 - 1 82 c.6C>A c.(4-6)GCC>GCA p.A2A TRIM10_uc003npn.2_Silent_p.A2A|TRIM15_uc010jrx.2_5'Flank NM_006778 NP_006769 Q9UDY6 TRI10_HUMAN tripartite motif-containing 10 isoform 1 2 cytoplasm zinc ion binding 0 AGGCAGCAGAGGCCATGCTGG 0.602 NA 5 21 1.024e-07 1.27535e-07 0.014758 1 0 C6orf138 442213 broad.mit.edu 37 6 47846983 47846983 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:47846983T>G uc011dwm.1 - 3 1631 c.1546A>C c.(1546-1548)AGC>CGC p.S516R C6orf138_uc011dwn.1_Missense_Mutation_p.S280R NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 533 integral to membrane hedgehog receptor activity central_nervous_system(1) 1 TCCTGGACGCTGCTGTTCCAG 0.488 NA 3 26 0 0 0.009096 0 0 TTK 7272 broad.mit.edu 37 6 80746194 80746194 + Missense_Mutation SNP A A C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:80746194A>C uc003pjc.2 + 17 2001 c.1927A>C c.(1927-1929)ATT>CTT p.I643L TTK_uc003pjb.3_Missense_Mutation_p.I642L NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 643 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) TTTTAAAGGCATTGTTCACAG 0.328 NA 12 79 0 0 0.013537 0 0 C6orf191 253582 broad.mit.edu 37 6 130164711 130164711 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:130164711T>G uc003qbs.2 - 3 240 c.157A>C c.(157-159)AAA>CAA p.K53Q NM_001010876 NP_001010876 Q5VVB8 CF191_HUMAN hypothetical protein LOC253582 53 integral to membrane large_intestine(1) 1 GBM - Glioblastoma multiforme(226;0.0387)|all cancers(137;0.115)|OV - Ovarian serous cystadenocarcinoma(155;0.131) GGATTTGTTTTGAAATCAAAT 0.323 NA 4 119 0 0 0.014758 0 0 KDELR2 11014 broad.mit.edu 37 7 6505922 6505922 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:6505922G>A uc003sqe.3 - 4 545 c.384C>T c.(382-384)TCC>TCT p.S128S DAGLB_uc003sqd.3_Intron|KDELR2_uc003sqf.3_Intron NM_006854 NP_006845 P33947 ERD22_HUMAN KDEL receptor 2 isoform 1 128 Helical; (Potential). intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport endoplasmic reticulum membrane|Golgi apparatus|integral to membrane KDEL sequence binding|protein binding|receptor activity ovary(1)|central_nervous_system(1) 2 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) GGATAGCCACGGACTCCAGGT 0.542 NA 9 58 0 0 0.008291 0 0 TWISTNB 221830 broad.mit.edu 37 7 19738091 19738091 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:19738091C>A uc003sup.1 - 4 886 c.865G>T c.(865-867)GAC>TAC p.D289Y NM_001002926 NP_001002926 Q3B726 RPA43_HUMAN TWIST neighbor 289 Lys-rich. microtubule cytoskeleton|nucleolus DNA-directed RNA polymerase activity ovary(1) 1 GGGTCCTGGTCCTGAACTTCC 0.428 NA 30 346 1.99505e-19 2.67963e-19 0.012213 1 0 STK31 56164 broad.mit.edu 37 7 23793962 23793962 + Nonsense_Mutation SNP A A T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:23793962A>T uc003sws.3 + 10 1229 c.1162A>T c.(1162-1164)AAA>TAA p.K388* STK31_uc003swt.3_Nonsense_Mutation_p.K365*|STK31_uc011jze.1_Nonsense_Mutation_p.K388*|STK31_uc010kuq.2_Nonsense_Mutation_p.K365* NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 388 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 CCGTTTCGGAAAAGACCTTTC 0.368 NA 8 123 0 0 0.038147 0 0 STK31 56164 broad.mit.edu 37 7 23794038 23794038 + Missense_Mutation SNP T T G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:23794038T>G uc003sws.3 + 10 1305 c.1238T>G c.(1237-1239)ATA>AGA p.I413R STK31_uc003swt.3_Missense_Mutation_p.I390R|STK31_uc011jze.1_Missense_Mutation_p.I413R|STK31_uc010kuq.2_Missense_Mutation_p.I390R NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 413 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 GGATTAGAGATAATATGGGCA 0.388 NA 5 155 0 0 0.021553 0 0 CHCHD2 51142 broad.mit.edu 37 7 56172005 56172005 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:56172005C>T uc003tsa.2 - 2 295 c.214G>A c.(214-216)GTG>ATG p.V72M PSPH_uc003trj.2_Intron NM_016139 NP_057223 Q9Y6H1 CHCH2_HUMAN coiled-coil-helix-coiled-coil-helix domain 72 mitochondrion 0 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTGTGCCCCACAGCAGAGCCC 0.612 NA 5 39 0 0 0.014758 0 0 TRIM50 135892 broad.mit.edu 37 7 72732960 72732960 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:72732960C>A uc010lbd.1 - 4 712 c.587G>T c.(586-588)GGG>GTG p.G196V FKBP6_uc003twz.2_Intron|TRIM50_uc003txy.1_Missense_Mutation_p.G196V|TRIM50_uc003txz.1_Missense_Mutation_p.G196V NM_178125 NP_835226 Q86XT4 TRI50_HUMAN tripartite motif protein 50A 196 cytoplasm|intracellular membrane-bounded organelle ligase activity|zinc ion binding skin(1) 1 ACCCCCTATCCCCTCCAGGCA 0.667 NA 8 104 0.000274275 0.000300606 0.004482 1 0 ABCB4 5244 broad.mit.edu 37 7 87080995 87080995 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:87080995G>A uc003uiv.1 - 7 728 c.652C>T c.(652-654)CTT>TTT p.L218F ABCB4_uc003uiw.1_Missense_Mutation_p.L218F|ABCB4_uc003uix.1_Missense_Mutation_p.L218F NM_018849 NP_061337 P21439 MDR3_HUMAN ATP-binding cassette, subfamily B, member 4 218 Helical; (By similarity).|ABC transmembrane type-1 1. cellular lipid metabolic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|xenobiotic-transporting ATPase activity ovary(4)|skin(1)|pancreas(1) 6 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) ATTATCACAAGGGTGAGCTTC 0.468 NA 7 68 0 0 0.038147 0 0 MUC17 140453 broad.mit.edu 37 7 100679976 100679976 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:100679976C>A uc003uxp.1 + 3 5332 c.5279C>A c.(5278-5280)CCG>CAG p.P1760Q MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 1760 Extracellular (Potential).|59 X approximate tandem repeats.|27.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGCACCACGCCGGTACTCAGT 0.507 NA 22 316 9.04412e-07 1.0965e-06 0.024334 1 0 MUC17 140453 broad.mit.edu 37 7 100685846 100685846 + Missense_Mutation SNP C C T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:100685846C>T uc003uxp.1 + 3 11202 c.11149C>T c.(11149-11151)CCT>TCT p.P3717S MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3717 Extracellular (Potential).|59.|59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CCTTTCAACACCTTCTGTTGT 0.507 NA 11 170 0 0 0.016723 0 0 GPR22 2845 broad.mit.edu 37 7 107115089 107115089 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:107115089T>A uc003vef.2 + 3 1930 c.584T>A c.(583-585)CTT>CAT p.L195H COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 195 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 AACAAGACACTTTTATGTGTC 0.313 NA 3 52 0 0 0.004672 0 0 C7orf58 79974 broad.mit.edu 37 7 120704319 120704319 + Missense_Mutation SNP C C G TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:120704319C>G uc003vjq.3 + 5 1015 c.568C>G c.(568-570)CCA>GCA p.P190A C7orf58_uc003vjr.1_Missense_Mutation_p.P190A|C7orf58_uc003vjs.3_Missense_Mutation_p.P190A|C7orf58_uc003vjt.3_5'UTR NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 190 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) AATACAGCAGCCACTTTGCAG 0.393 NA 6 61 0 0 0.02938 0 0 FAM40B 57464 broad.mit.edu 37 7 129125534 129125534 + Missense_Mutation SNP T T C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:129125534T>C uc011koy.1 + 21 2409 c.2369T>C c.(2368-2370)GTG>GCG p.V790A FAM40B_uc011koz.1_Missense_Mutation_p.V282A NM_020704 NP_065755 Q9ULQ0 FA40B_HUMAN hypothetical protein LOC57464 isoform a 790 0 TTTTCACCTGTGGATAACTGC 0.502 NA 14 66 0 0 0.020292 0 0 TAS2R60 338398 broad.mit.edu 37 7 143141101 143141101 + Silent SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr7:143141101C>A uc011ktg.1 + 1 556 c.556C>A c.(556-558)CGG>AGG p.R186R uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 186 Helical; Name=5; (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) CGATAGCATACGGAGCTACTG 0.398 NA 23 145 3.08376e-08 3.94837e-08 0.01892 1 0 SYBU 55638 broad.mit.edu 37 8 110631185 110631185 + Missense_Mutation SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr8:110631185G>A uc003ynj.3 - 3 476 c.313C>T c.(313-315)CCT>TCT p.P105S SYBU_uc003yni.3_Missense_Mutation_p.P102S|SYBU_uc003ynk.3_5'UTR|SYBU_uc010mco.2_Missense_Mutation_p.P104S|SYBU_uc003ynl.3_Missense_Mutation_p.P104S|SYBU_uc010mcp.2_Missense_Mutation_p.P105S|SYBU_uc010mcq.2_Missense_Mutation_p.P105S|SYBU_uc003yno.3_5'UTR|SYBU_uc010mcr.2_Missense_Mutation_p.P105S|SYBU_uc003ynm.3_Missense_Mutation_p.P104S|SYBU_uc003ynn.3_Missense_Mutation_p.P104S|SYBU_uc010mcs.2_5'UTR|SYBU_uc010mct.2_Missense_Mutation_p.P105S|SYBU_uc010mcu.2_Missense_Mutation_p.P104S|SYBU_uc003ynp.3_Missense_Mutation_p.P37S|SYBU_uc010mcv.2_Missense_Mutation_p.P105S NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 105 Sufficient for interaction with KIF5B.|Ser-rich. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 TCACTTCCAGGGCAAAAGCCA 0.483 NA 5 139 0 0 0.014758 0 0 GDA 9615 broad.mit.edu 37 9 74838084 74838084 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:74838084T>A uc004aiq.2 + 7 838 c.655T>A c.(655-657)TCT>ACT p.S219T GDA_uc011lse.1_Missense_Mutation_p.S145T|GDA_uc011lsf.1_Missense_Mutation_p.S145T|GDA_uc004air.2_Missense_Mutation_p.S219T|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Intron|GDA_uc004ait.1_Missense_Mutation_p.S145T NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 219 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CCTCTCCTGCTCTGAGACTTT 0.373 NA 12 71 0 0 0.020292 0 0 TMC1 117531 broad.mit.edu 37 9 75435847 75435847 + Missense_Mutation SNP G G T TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:75435847G>T uc004aiz.1 + 20 2393 c.1853G>T c.(1852-1854)TGC>TTC p.C618F TMC1_uc010moz.1_Missense_Mutation_p.C576F|TMC1_uc004aja.1_RNA|TMC1_uc004ajb.1_RNA|TMC1_uc004ajc.1_Missense_Mutation_p.C472F|TMC1_uc010mpa.1_Missense_Mutation_p.C472F NM_138691 NP_619636 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 618 Cytoplasmic (Potential). sensory perception of sound integral to membrane ovary(1) 1 GCCGTTATGTGCTGCAATGTT 0.502 Pancreas(75;173 1345 14232 34245 43413) NA 10 133 0.000442599 0.00047745 0.006214 1 0 ROR2 4920 broad.mit.edu 37 9 94487168 94487168 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:94487168G>A uc004arj.1 - 9 1807 c.1608C>T c.(1606-1608)GTC>GTT p.V536V ROR2_uc004ari.1_Silent_p.V396V NM_004560 NP_004551 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 536 Cytoplasmic (Potential).|Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding lung(8)|central_nervous_system(5)|ovary(3)|large_intestine(2)|stomach(1)|breast(1) 20 GCAGGCAGACGACGTTGGGGT 0.627 NA 11 63 0 0 0.008291 0 0 OR1N1 138883 broad.mit.edu 37 9 125289309 125289309 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:125289309G>A uc004bmn.1 - 1 264 c.264C>T c.(262-264)CAC>CAT p.H88H NM_012363 NP_036495 Q8NGS0 OR1N1_HUMAN olfactory receptor, family 1, subfamily N, 88 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1)|breast(1)|skin(1) 3 AGGAGATGGTGTGATGCCGAG 0.473 NA 5 45 0 0 0.021553 0 0 NR6A1 2649 broad.mit.edu 37 9 127302372 127302372 + Missense_Mutation SNP G G C TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:127302372G>C uc004bor.1 - 5 714 c.536C>G c.(535-537)TCC>TGC p.S179C NR6A1_uc004boq.1_Missense_Mutation_p.S175C|NR6A1_uc010mwq.1_Missense_Mutation_p.S175C NM_033334 NP_201591 Q15406 NR6A1_HUMAN nuclear receptor subfamily 6, group A, member 1 179 Sufficient for interaction with UIMC1 (By similarity). cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis transcription factor complex protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(3) 3 GTTCCCAGGGGAACTGTGGTC 0.517 Esophageal Squamous(192;272 2884 6208 20560) NA 18 93 0 0 0.0333 0 0 WDR38 401551 broad.mit.edu 37 9 127619095 127619095 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:127619095T>A uc004box.2 + 7 759 c.703T>A c.(703-705)TGG>AGG p.W235R WDR38_uc011lzn.1_Missense_Mutation_p.W224R|WDR38_uc011lzo.1_Missense_Mutation_p.W235R|WDR38_uc011lzp.1_Missense_Mutation_p.W186R NM_001045476 NP_001038941 Q5JTN6 WDR38_HUMAN WD repeat domain 38 235 WD 6. 0 CCATGTCACCTGGGTGAAGAG 0.617 NA 14 52 0 0 0.016723 0 0 SHOX 6473 broad.mit.edu 37 X 591835 591835 + Missense_Mutation SNP T T A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chrX:591835T>A uc004cph.1 + 2 894 c.203T>A c.(202-204)GTG>GAG p.V68E SHOX_uc004cpi.2_Missense_Mutation_p.V68E NM_000451 NP_000442 O15266 SHOX_HUMAN short stature homeobox isoform SHOXa 68 skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 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) CACTGCCCGGTGCATTTGTTC 0.602 Ovarian(95;18 1419 12424 14056 28266) NA 9 88 0 0 0.006214 0 0 CXorf59 286464 broad.mit.edu 37 X 36103615 36103615 + Missense_Mutation SNP C C A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chrX:36103615C>A uc004ddk.1 + 5 787 c.601C>A c.(601-603)CAA>AAA p.Q201K NM_173695 NP_775966 Q8N9S7 CX059_HUMAN hypothetical protein LOC286464 201 integral to membrane central_nervous_system(1) 1 AAGGGTAATTCAACTCCATTT 0.378 NA 12 30 2.10051e-16 2.76701e-16 0.013537 1 0 F8 2157 broad.mit.edu 37 X 154128189 154128189 + Silent SNP G G A TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chrX:154128189G>A uc004fmt.2 - 21 6396 c.6225C>T c.(6223-6225)TCC>TCT p.S2075S F8_uc010nvi.1_Intron NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 2075 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TGATTGATCCGGAATAATGAA 0.418 NA 4 26 0 0 0.009096 0 0 GAL3ST3 89792 broad.mit.edu 37 11 65810949 65810949 + Frame_Shift_Del DEL G G - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr11:65810949delG uc001ogv.2 - 2 485 c.325delC c.(325-327)CGCfs p.R109fs GAL3ST3_uc001ogw.2_Frame_Shift_Del_p.R109fs NM_033036 NP_149025 Q96A11 G3ST3_HUMAN galactose-3-O-sulfotransferase 3 109 Lumenal (Potential). monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity ovary(1) 1 GAGAAGTTGCGGGGGTAGCAG 0.692 NA 10 34 --- --- --- --- NA NA NA NA NA TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr21:10944697delA uc002yip.1 - 11 905 c.537delT c.(535-537)TTTfs p.F179fs TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Frame_Shift_Del_p.F161fs|TPTE_uc002yir.1_Frame_Shift_Del_p.F141fs|TPTE_uc010gkv.1_Frame_Shift_Del_p.F41fs NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 Helical; (Potential). signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 NA 8 299 --- --- --- --- NA NA NA NA NA ANKRD56 345079 broad.mit.edu 37 4 77816907 77816912 + In_Frame_Del DEL ACATTT ACATTT - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 ACATTT ACATTT - - ACATTT ACATTT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr4:77816907_77816912delACATTT uc003hki.2 - 1 2091_2096 c.2091_2096delAAATGT c.(2089-2097)GTAAATGTC>GTC p.697_699VNV>V NM_001029870 NP_001025041 A6NEL2 ANR56_HUMAN ankyrin repeat domain 56 697_699 ANK 2. 0 GCTGTCCCTGACATTTACCCGAGAAG 0.539 NA 27 334 --- --- --- --- NA NA NA NA NA C6orf145 221749 broad.mit.edu 37 6 3751655 3751657 + In_Frame_Del DEL CTC CTC - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 CTC CTC - - CTC CTC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:3751655_3751657delCTC uc003mvt.2 - 1 590_592 c.109_111delGAG c.(109-111)GAGdel p.E37del NM_183373 NP_899229 Q5TGL8 CF145_HUMAN hypothetical protein LOC221749 37 PX. cell communication phosphatidylinositol binding breast(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) TCTCGAAGAACTCCTCTTCGTCG 0.69 NA 2 4 --- --- --- --- NA NA NA NA NA TRERF1 55809 broad.mit.edu 37 6 42196333 42196333 + Frame_Shift_Del DEL T T - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr6:42196333delT uc003osd.2 - 18 3916 c.3353delA c.(3352-3354)AAGfs p.K1118fs TRERF1_uc011duq.1_Frame_Shift_Del_p.K1035fs|TRERF1_uc003osb.2_Frame_Shift_Del_p.K886fs|TRERF1_uc003osc.2_Frame_Shift_Del_p.K874fs|TRERF1_uc003ose.2_Frame_Shift_Del_p.K1138fs NM_033502 NP_277037 Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 1118 Interacts with CREBBP. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding ovary(3)|pancreas(1)|skin(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CTTCTGAGCCTTTTGCCTCTG 0.542 NA 8 649 --- --- --- --- NA NA NA NA NA CTSL2 1515 broad.mit.edu 37 9 99798905 99798905 + Frame_Shift_Del DEL C C - TCGA-05-5420-01A-01D-1625-08 TCGA-05-5420-11A-01D-1625-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 8371b6a4-ffea-4fe5-b997-76ece85064a7 933f6f30-7a1a-4148-953e-f637b1e6c241 g.chr9:99798905delC uc004awt.2 - 5 718 c.521delG c.(520-522)GGCfs p.G174fs CTSL2_uc010msi.2_Frame_Shift_Del_p.G174fs|CTSL2_uc004awu.2_Frame_Shift_Del_p.G119fs|CTSL2_uc010msj.1_Frame_Shift_Del_p.G119fs|CTSL2_uc010msk.2_Frame_Shift_Del_p.G119fs NM_001333 NP_001324 O60911 CATL2_HUMAN cathepsin L2 preproprotein 174 lysosome cysteine-type endopeptidase activity 0 Acute lymphoblastic leukemia(62;0.0559) GCCCTGATTGCCTTGAGGACG 0.522 NA 9 70 --- --- --- --- NA NA NA NA NA