Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample ZBTB40 9923 broad.mit.edu 37 1 22838486 22838486 + Missense_Mutation SNP A A T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:22838486A>T uc001bft.2 + 12 2831 c.2320A>T c.(2320-2322)ACC>TCC p.T774S ZBTB40_uc001bfu.2_Missense_Mutation_p.T774S|ZBTB40_uc009vqi.1_Missense_Mutation_p.T662S|ZBTB40_uc001bfv.1_Missense_Mutation_p.T403S NM_001083621 NP_001077090 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 774 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GTGCAGTGAGACCAAGGATTC 0.537 NaN 0 0 0 0.003954 0 21 21 OSCP1 127700 broad.mit.edu 37 1 36886081 36886081 + Missense_Mutation SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:36886081C>G uc001cap.2 - 9 1067 c.985G>C c.(985-987)GAG>CAG p.E329Q OSCP1_uc001caq.2_Missense_Mutation_p.E319Q NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN oxidored-nitro domain-containing protein isoform 329 transport basal plasma membrane ovary(2)|central_nervous_system(1)|pancreas(1) 4 acatactcctcttcttcaTCG 0.249 NaN OREG0013368 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00361 0 51 197 ST6GALNAC3 256435 broad.mit.edu 37 1 76877711 76877711 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:76877711G>A uc001dhh.2 + 3 395 c.232G>A c.(232-234)GAC>AAC p.D78N ST6GALNAC3_uc001dhg.3_Missense_Mutation_p.D78N|ST6GALNAC3_uc010orh.1_Missense_Mutation_p.D13N NM_152996 NP_694541 Q8NDV1 SIA7C_HUMAN sialyltransferase 7C isoform 1 78 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity ovary(3)|skin(2) 5 ACTGGACTGTGACCTTTGTGC 0.413 NaN 0 0 0 0.00361 0 47 49 DPH5 51611 broad.mit.edu 37 1 101490988 101490988 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:101490988G>A uc001dts.2 - 2 159 c.12C>T c.(10-12)CTC>CTT p.L4L DPH5_uc001dtr.2_Silent_p.L4L|DPH5_uc001dtq.2_RNA|DPH5_uc001dtt.2_Silent_p.L4L|DPH5_uc001dtu.2_RNA|DPH5_uc001dtv.2_RNA|DPH5_uc001dtw.2_RNA|DPH5_uc001dtx.2_Silent_p.L4L|DPH5_uc001dty.2_5'UTR|DPH5_uc001dtz.2_RNA|uc001dua.2_5'Flank|uc001dub.2_5'Flank NM_015958 NP_057042 Q9H2P9 DPH5_HUMAN diphthine synthase isoform a 4 peptidyl-diphthamide biosynthetic process from peptidyl-histidine diphthine synthase activity 0 all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198) CCAACCCGATGAGATAAAGCA 0.488 NaN 0 0 0 0.004007 0 15 45 POLR3C 10623 broad.mit.edu 37 1 145601614 145601614 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:145601614G>A uc001eoh.2 - 7 953 c.792C>T c.(790-792)AGC>AGT p.S264S NBPF10_uc001emp.3_Intron|POLR3C_uc001eog.2_Silent_p.S277S|POLR3C_uc001eoi.2_RNA|POLR3C_uc009wix.2_Silent_p.S264S NM_006468 NP_006459 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide 264 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) GCACAATCTCGCTGCTTGTCT 0.453 NaN 0 0 0 0.001984 0 6 34 RPRD2 23248 broad.mit.edu 37 1 150444932 150444932 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:150444932C>T uc009wlr.2 + 11 3709 c.3508C>T c.(3508-3510)CGG>TGG p.R1170W RPRD2_uc010pcc.1_3'UTR|RPRD2_uc001eup.3_Missense_Mutation_p.R1144W NM_015203 NP_056018 Q5VT52 RPRD2_HUMAN Regulation of nuclear pre-mRNA domain containing 1170 protein binding ovary(1) 1 ATACAAGGAACGGGCACCTCA 0.532 NaN 0 0 0 0.00499 0 15 60 ATP8B2 57198 broad.mit.edu 37 1 154320946 154320946 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:154320946G>A uc001fex.2 + 27 3325 c.3325G>A c.(3325-3327)GTC>ATC p.V1109I NM_020452 NP_065185 P98198 AT8B2_HUMAN ATPase, class I, type 8B, member 2 isoform a 1095 Helical; (Potential). ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(1)|skin(1) 2 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) CACCACAGTCGTCTGCATCAT 0.607 NaN 0 0 0 0.010729 0 11 31 SPTA1 6708 broad.mit.edu 37 1 158650498 158650498 + Missense_Mutation SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:158650498C>G uc001fst.1 - 5 752 c.553G>C c.(553-555)GAG>CAG p.E185Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 185 Spectrin 3. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCACCTAGCTCCACTGATGTC 0.448 NaN 0 0 0 0.005524 0 33 58 KIFAP3 22920 broad.mit.edu 37 1 169923248 169923248 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:169923248C>T uc001ggv.2 - 19 2448 c.2177G>A c.(2176-2178)GGA>GAA p.G726E KIFAP3_uc010plx.1_Missense_Mutation_p.G428E NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 726 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GGCAATTAATCCATCTAGAAA 0.343 NaN 0 0 0 0.007291 0 30 96 CFHR4 10877 broad.mit.edu 37 1 196887480 196887480 + Missense_Mutation SNP C C G rs80010185 by1000genomes TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:196887480C>G uc001gto.2 + 6 1009 c.940C>G c.(940-942)CTA>GTA p.L314V CFHR4_uc009wyy.2_Missense_Mutation_p.L560V|CFHR4_uc001gtp.2_Missense_Mutation_p.L561V NM_006684 NP_006675 Q92496 FHR4_HUMAN complement factor H-related 4 precursor 314 Sushi 5. extracellular region lipid transporter activity ovary(1)|pancreas(1)|skin(1) 3 TACATCAGTTCTATCATTTCA 0.363 NaN 0 0 0 0.00874 0 33 241 CFHR2 3080 broad.mit.edu 37 1 196918666 196918666 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:196918666C>T uc001gtq.1 + 2 217 c.140C>T c.(139-141)ACA>ATA p.T47I CFHR2_uc001gtr.1_Intron NM_005666 NP_005657 P36980 FHR2_HUMAN H factor (complement)-like 3 precursor 47 Sushi 1. extracellular region skin(2)|ovary(1) 3 CAAGTTCCTACAGGGGAAGTT 0.358 NaN 0 0 0 0.008291 0 11 70 TMEM206 55248 broad.mit.edu 37 1 212553312 212553312 + Missense_Mutation SNP C C T rs141387916 TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:212553312C>T uc001hjc.3 - 5 731 c.563G>A c.(562-564)CGC>CAC p.R188H TMEM206_uc010pte.1_Missense_Mutation_p.R249H NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 188 Extracellular (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) CTTGTTCAGGCGGAACTGGAG 0.522 NaN 0 0 0 0.002299 0 22 90 GNG4 2786 broad.mit.edu 37 1 235715501 235715501 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:235715501C>T uc001hxe.3 - 4 590 c.136G>A c.(136-138)GAA>AAA p.E46K GNG4_uc009xfz.2_Missense_Mutation_p.E46K|GNG4_uc001hxh.3_Missense_Mutation_p.E46K NM_001098722 NP_001092192 P50150 GBG4_HUMAN guanine nucleotide binding protein (G protein), 46 cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|negative regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission heterotrimeric G-protein complex signal transducer activity 0 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.000882) ACGTGAGCTTCACAGTAGGCC 0.542 NaN 0 0 0 0.00361 0 82 69 CHML 1122 broad.mit.edu 37 1 241798859 241798859 + Missense_Mutation SNP T T G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:241798859T>G uc001hzd.2 - 1 374 c.210A>C c.(208-210)GAA>GAC p.E70D OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 70 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CAGTACTTTCTTCCCCAATGT 0.418 NaN 0 0 0 0.00361 0 60 203 TRIM58 25893 broad.mit.edu 37 1 248023982 248023982 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:248023982G>A uc001ido.2 + 2 532 c.484G>A c.(484-486)GCC>ACC p.A162T NM_015431 NP_056246 Q8NG06 TRI58_HUMAN tripartite motif-containing 58 162 intracellular zinc ion binding skin(3)|ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1) 7 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) GACTCAGGAGGCCAACGTGGG 0.483 NaN 0 0 0 0.008291 0 9 47 OR2T34 127068 broad.mit.edu 37 1 248737333 248737333 + Silent SNP G G C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr1:248737333G>C uc001iep.1 - 1 726 c.726C>G c.(724-726)GCC>GCG p.A242A NM_001001821 NP_001001821 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, 242 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1)|ovary(1) 2 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) AGGTGGCCAAGGCCTTCCTGC 0.567 NaN 0 0 0 0.008361 0 26 140 HSPA14 51182 broad.mit.edu 37 10 14891755 14891755 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr10:14891755G>A uc001inf.2 + 6 553 c.412G>A c.(412-414)GAT>AAT p.D138N HSPA14_uc010qbw.1_Missense_Mutation_p.D138N NM_016299 NP_057383 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 isoform 1 138 'de novo' cotranslational protein folding cytosol ATP binding|protein binding ovary(2)|breast(2)|lung(1) 5 AGATGCAAATGATGTAGTTAT 0.338 NaN 0 0 0 0.007413 0 13 87 OIT3 170392 broad.mit.edu 37 10 74690368 74690368 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr10:74690368C>T uc001jte.1 + 8 1658 c.1440C>T c.(1438-1440)GTC>GTT p.V480V OIT3_uc009xqs.1_RNA NM_152635 NP_689848 Q8WWZ8 OIT3_HUMAN oncoprotein-induced transcript 3 precursor 480 ZP. nuclear envelope calcium ion binding ovary(2) 2 Prostate(51;0.0198) AGGTCCCTGTCTTCAAGTTTG 0.438 NaN 0 0 0 0.00361 0 60 131 MGEA5 10724 broad.mit.edu 37 10 103560119 103560119 + Missense_Mutation SNP A A T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr10:103560119A>T uc001ktv.2 - 8 1518 c.1075T>A c.(1075-1077)TTA>ATA p.L359I MGEA5_uc001ktu.2_5'Flank|MGEA5_uc010qqe.1_Intron|MGEA5_uc009xws.2_Intron|MGEA5_uc001ktw.2_Missense_Mutation_p.L359I|MGEA5_uc009xwt.2_Missense_Mutation_p.L122I NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 359 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) TCATTTTCTAATTTTATCTGG 0.343 NaN 0 0 0 0.010504 0 19 45 DOCK1 1793 broad.mit.edu 37 10 128925983 128925983 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr10:128925983C>T uc001ljt.2 + 27 2803 c.2739C>T c.(2737-2739)ACC>ACT p.T913T DOCK1_uc010qun.1_Silent_p.T934T NM_001380 NP_001371 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 913 apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding central_nervous_system(4)|ovary(2)|lung(1)|breast(1)|kidney(1) 9 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) TTCTCCGGACCGTGAACCGAA 0.483 NaN 0 0 0 0.001984 0 4 68 EXT2 2132 broad.mit.edu 37 11 44146519 44146519 + Nonsense_Mutation SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr11:44146519C>G uc001mxz.2 + 5 1258 c.924C>G c.(922-924)TAC>TAG p.Y308* EXT2_uc010rfo.1_Nonsense_Mutation_p.Y336*|EXT2_uc001mxy.2_Nonsense_Mutation_p.Y321*|EXT2_uc009ykt.2_Nonsense_Mutation_p.Y308*|EXT2_uc001mya.2_Nonsense_Mutation_p.Y341* NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 308 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 TCTTCGATTACCCACAGGTGC 0.488 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses 0 0 0 0.007413 0 17 38 OR4C46 119749 broad.mit.edu 37 11 51516060 51516060 + Missense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr11:51516060C>A uc010ric.1 + 1 779 c.779C>A c.(778-780)GCA>GAA p.A260E NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 ATGAGACCTGCAGCTACTTTA 0.423 NaN 1 0 3.17567e-06 0.008361 3.27979e-06 19 49 PLCB3 5331 broad.mit.edu 37 11 64029989 64029989 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr11:64029989G>A uc001nzb.2 + 18 2149 c.2149G>A c.(2149-2151)GAG>AAG p.E717K PLCB3_uc009ypg.1_Missense_Mutation_p.E717K|PLCB3_uc009yph.1_Missense_Mutation_p.E650K|PLCB3_uc009ypi.2_Missense_Mutation_p.E717K NM_000932 NP_000923 Q01970 PLCB3_HUMAN phospholipase C beta 3 717 C2. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|pancreas(1) 2 CCCCTTCACTGAGGTCATCGT 0.647 NaN 0 0 0 0.00499 0 17 35 SLCO1C1 53919 broad.mit.edu 37 12 20859006 20859006 + Missense_Mutation SNP T T C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr12:20859006T>C uc001rej.3 + 5 750 c.395T>C c.(394-396)TTC>TCC p.F132S SLCO1C1_uc010sii.1_Missense_Mutation_p.F132S|SLCO1C1_uc010sij.1_Missense_Mutation_p.F132S|SLCO1C1_uc009zip.2_Intron|SLCO1C1_uc001rei.2_Missense_Mutation_p.F132S|SLCO1C1_uc010sik.1_Missense_Mutation_p.F14S NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 132 Helical; Name=3; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) CCTCAGTTCTTCATGGAGCAG 0.388 NaN 0 0 0 0.00361 0 53 76 KIF21A 55605 broad.mit.edu 37 12 39730925 39730925 + Missense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr12:39730925C>A uc001rly.2 - 17 2537 c.2391G>T c.(2389-2391)CAG>CAT p.Q797H KIF21A_uc001rlw.2_Missense_Mutation_p.Q114H|KIF21A_uc001rlx.2_Missense_Mutation_p.Q784H|KIF21A_uc001rlz.2_Missense_Mutation_p.Q784H|KIF21A_uc010skl.1_Missense_Mutation_p.Q784H NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 797 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) CCTTTTTCAACTGAGCAATCT 0.333 NaN 1 0 2.55716e-62 0.00361 3.06859e-62 108 45 SFRS2IP 9169 broad.mit.edu 37 12 46318787 46318787 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr12:46318787C>T uc001rox.2 - 12 3917 c.3630G>A c.(3628-3630)CCG>CCA p.P1210P SFRS2IP_uc001row.2_Silent_p.P895P NM_004719 NP_004710 Q99590 SCAFB_HUMAN splicing factor, arginine/serine-rich 2, 1210 spliceosome assembly nucleus protein binding|zinc ion binding 0 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.209) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.1) CATTCATTTGCGGTTGCATCA 0.378 NaN 0 0 0 0.012319 0 18 50 CPSF6 11052 broad.mit.edu 37 12 69652373 69652373 + Missense_Mutation SNP G G C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr12:69652373G>C uc001sut.3 + 6 808 c.698G>C c.(697-699)GGA>GCA p.G233A CPSF6_uc001suu.3_Missense_Mutation_p.G270A|CPSF6_uc010stk.1_5'UTR NM_007007 NP_008938 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 233 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding 0 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) TTTTTAGCTGGACAGACTCCA 0.458 NaN 0 0 0 0.004656 0 22 32 DDX55 57696 broad.mit.edu 37 12 124104079 124104079 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr12:124104079C>T uc001ufi.2 + 13 1458 c.1434C>T c.(1432-1434)GAC>GAT p.D478D DDX55_uc001ufh.2_3'UTR|DDX55_uc001ufk.2_Silent_p.D331D|DDX55_uc001ufl.2_Silent_p.D85D NM_020936 NP_065987 Q8NHQ9 DDX55_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 478 ATP binding|ATP-dependent helicase activity|RNA binding ovary(1) 1 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772) TGCCCGTGGACGTTAATACCG 0.393 NaN 0 0 0 0.012319 0 21 61 PCDH17 27253 broad.mit.edu 37 13 58207677 58207677 + Missense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr13:58207677G>T uc001vhq.1 + 1 1889 c.997G>T c.(997-999)GCC>TCC p.A333S PCDH17_uc010aec.1_Missense_Mutation_p.A333S NM_001040429 NP_001035519 O14917 PCD17_HUMAN protocadherin 17 precursor 333 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 7 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CCCTATCCCAGCCCACTGCAA 0.627 NaN 1 0 1.64293e-13 0.00333 1.83194e-13 21 51 GPC5 2262 broad.mit.edu 37 13 92345804 92345804 + Missense_Mutation SNP A A T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr13:92345804A>T uc010tif.1 + 3 1055 c.689A>T c.(688-690)AAT>ATT p.N230I NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 230 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAGGCACTCAATCTGGGCATT 0.542 NaN 0 0 0 0.003954 0 27 6 AKAP6 9472 broad.mit.edu 37 14 33291375 33291375 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr14:33291375C>T uc001wrq.2 + 13 4526 c.4356C>T c.(4354-4356)GAC>GAT p.D1452D NM_004274 NP_004265 Q13023 AKAP6_HUMAN A-kinase anchor protein 6 1452 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1) 21 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) ATACCCCTGACTGTTTGGGAG 0.363 NaN 0 0 0 0.003954 0 24 19 DACT1 51339 broad.mit.edu 37 14 59113073 59113073 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr14:59113073G>A uc001xdw.2 + 4 1896 c.1732G>A c.(1732-1734)GTC>ATC p.V578I DACT1_uc010trv.1_Missense_Mutation_p.V297I|DACT1_uc001xdx.2_Missense_Mutation_p.V541I|DACT1_uc010trw.1_Missense_Mutation_p.V297I NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 578 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 GAACATGGGCGTCGTGAAGAA 0.657 NaN 0 0 0 0.00308 0 7 19 FMN1 342184 broad.mit.edu 37 15 33091032 33091032 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr15:33091032C>T uc001zhf.3 - 15 3434 c.3434G>A c.(3433-3435)CGG>CAG p.R1145Q NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 1368 FH2. actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TTTACTCTCCCGTTTCCAAAT 0.408 NaN 0 0 0 0.001368 0 11 14 COX5A 9377 broad.mit.edu 37 15 75221462 75221462 + Missense_Mutation SNP C C T rs150174803 TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr15:75221462C>T uc002azi.3 - 2 352 c.212G>A c.(211-213)CGT>CAT p.R71H NM_004255 NP_004246 P20674 COX5A_HUMAN cytochrome c oxidase subunit Va precursor 71 respiratory electron transport chain mitochondrial inner membrane cytochrome-c oxidase activity|electron carrier activity|metal ion binding 0 ATTACCTTTACGCAATTCCCA 0.413 NaN 0 0 0 0.00361 0 48 72 CRAMP1L 57585 broad.mit.edu 37 16 1706030 1706030 + Silent SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr16:1706030G>T uc010uvh.1 + 9 1272 c.1272G>T c.(1270-1272)GTG>GTT p.V424V CRAMP1L_uc002cmf.2_Intron NM_020825 NP_065876 Q96RY5 CRML_HUMAN Crm, cramped-like 424 nucleus DNA binding 0 TCTGCACAGTGCACTGGCAGG 0.667 NaN 1 0 2.27111e-07 0.001368 2.38467e-07 11 6 PRSS36 146547 broad.mit.edu 37 16 31150574 31150574 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr16:31150574G>A uc002ebd.2 - 15 2512 c.2453C>T c.(2452-2454)TCC>TTC p.S818F PRSS36_uc010vff.1_Missense_Mutation_p.S593F|PRSS36_uc010vfg.1_Missense_Mutation_p.S813F|PRSS36_uc010vfh.1_Missense_Mutation_p.S715F NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 818 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 CCAGTGTGGGGAGCCACTGGG 0.632 NaN 0 0 0 0.001368 0 10 61 CDH16 1014 broad.mit.edu 37 16 66948291 66948291 + Missense_Mutation SNP A A G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr16:66948291A>G uc002eql.2 - 7 681 c.608T>C c.(607-609)CTG>CCG p.L203P CDH16_uc010cdy.2_Missense_Mutation_p.L203P|CDH16_uc002eqm.2_Intron NM_004062 NP_004053 O75309 CAD16_HUMAN cadherin 16 precursor 203 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) GGTCCTCTCCAGGGCGTGGTC 0.607 NaN 0 0 0 0.00333 0 25 7 PKD1L2 114780 broad.mit.edu 37 16 81173269 81173269 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr16:81173269G>A uc002fgh.1 - 33 5466 c.5466C>T c.(5464-5466)ATC>ATT p.I1822I PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 1822 Helical; (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 AGCCCACCAGGATGCACCACC 0.622 NaN 0 0 0 0.001168 0 5 2 YBX2 51087 broad.mit.edu 37 17 7193038 7193038 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr17:7193038G>A uc002gfq.2 - 7 912 c.855C>T c.(853-855)TTC>TTT p.F285F NM_015982 NP_057066 Q9Y2T7 YBOX2_HUMAN Y box binding protein 2 285 Pro-rich.|Required for mRNA-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation cytoplasm|nucleus DNA binding 0 GCCTGGGGCGGAAAGGCCTAA 0.672 NaN 0 0 0 0.00361 0 56 27 TP53 7157 broad.mit.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T rs11540652 TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr17:7577538C>T uc002gim.2 - 7 937 c.743G>A c.(742-744)CGG>CAG p.R248Q TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.2_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 248 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R248Q(523)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.R155Q(4)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GATGGGCCTCCGGTTCATGCC 0.572 R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIN87_STOMACH)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NIHOVCAR3_OVARY)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(HCC70_BREAST)|R248Q(KYSE150_OESOPHAGUS)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PC14_LUNG) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00361 0 51 20 LHX1 3975 broad.mit.edu 37 17 35300098 35300098 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr17:35300098G>A uc002hnh.1 + 5 1887 c.891G>A c.(889-891)CCG>CCA p.P297P NM_005568 NP_005559 P48742 LHX1_HUMAN LIM homeobox protein 1 297 cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development nucleus|protein complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(25;0.00607) ACTTCTTCCCGCAAGGCCCCC 0.637 NaN 0 0 0 0.001984 0 6 5 KCTD2 23510 broad.mit.edu 37 17 73055695 73055695 + Nonsense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr17:73055695G>T uc002jmp.2 + 4 698 c.631G>T c.(631-633)GAA>TAA p.E211* KCTD2_uc010dfz.2_RNA|KCTD2_uc002jmq.2_RNA NM_015353 NP_056168 Q14681 KCTD2_HUMAN potassium channel tetramerisation domain 211 voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_lung(278;0.226) CTGGAAATTCGAACAGGTACA 0.537 NaN 1 0 3.27435e-08 0.00245 3.49634e-08 13 15 CARD14 79092 broad.mit.edu 37 17 78169063 78169063 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr17:78169063C>T uc002jxw.1 + 10 1625 c.1430C>T c.(1429-1431)GCG>GTG p.A477V CARD14_uc002jxt.1_RNA|CARD14_uc002jxv.2_Missense_Mutation_p.A477V|CARD14_uc010wud.1_RNA|CARD14_uc002jxx.2_Missense_Mutation_p.A240V|CARD14_uc010dhu.1_Missense_Mutation_p.A275V NM_024110 NP_077015 Q9BXL6 CAR14_HUMAN caspase recruitment domain protein 14 isoform 1 477 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding ovary(4)|skin(1) 5 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGCAGCCCCGCGCCCCCCAGC 0.657 NaN 0 0 0 0.010729 0 10 12 NPTX1 4884 broad.mit.edu 37 17 78444649 78444649 + Silent SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr17:78444649G>T uc002jyp.1 - 5 1421 c.1263C>A c.(1261-1263)ACC>ACA p.T421T NM_002522 NP_002513 Q15818 NPTX1_HUMAN neuronal pentraxin I precursor 421 Pentaxin. central nervous system development|synaptic transmission|transport transport vesicle metal ion binding 0 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487) AGGTCCACTTGGTGGCCCCTC 0.642 NaN 1 0 8.16277e-20 0.006999 9.35009e-20 37 19 GNA15 2769 broad.mit.edu 37 19 3151744 3151744 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:3151744C>T uc002lxf.2 + 4 783 c.525C>T c.(523-525)TAC>TAT p.Y175Y NM_002068 NP_002059 P30679 GNA15_HUMAN guanine nucleotide binding protein (G protein), 175 activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity skin(2) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184) AGGAGGGCTACGTCCCCACAG 0.637 NaN 0 0 0 0.00361 0 41 74 PRAM1 84106 broad.mit.edu 37 19 8563950 8563950 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:8563950C>T uc002mkd.2 - 2 762 c.742G>A c.(742-744)GAG>AAG p.E248K PRAM1_uc002mkc.2_Missense_Mutation_p.E248K NM_032152 NP_115528 Q96QH2 PRAM_HUMAN PML-RARA regulated adaptor molecule 1 296 Pro-rich. lipid binding|protein binding 0 TGAGCGGCCTCGCTGAACTCA 0.632 NaN 0 0 0 0.001855 0 12 20 ZNF431 170959 broad.mit.edu 37 19 21365524 21365524 + Missense_Mutation SNP G G C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:21365524G>C uc002npp.2 + 5 565 c.418G>C c.(418-420)GAG>CAG p.E140Q ZNF431_uc010ecq.2_Missense_Mutation_p.E49Q|ZNF431_uc010ecr.2_Missense_Mutation_p.E141Q NM_133473 NP_597730 Q8TF32 ZN431_HUMAN zinc finger protein 431 140 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2) 2 ATGTGAACATGAGAATTTACA 0.368 NaN 0 0 0 0.001855 0 12 34 ZNF607 84775 broad.mit.edu 37 19 38189554 38189554 + Missense_Mutation SNP G G C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:38189554G>C uc002ohc.1 - 5 2074 c.1478C>G c.(1477-1479)ACT>AGT p.T493S ZNF607_uc002ohb.1_Missense_Mutation_p.T492S NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 493 C2H2-type 13. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GCGATGTATAGTGAGTTTATG 0.393 NaN 0 0 0 0.010818 0 26 99 ZNF780A 284323 broad.mit.edu 37 19 40580998 40580998 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:40580998C>T uc002omy.2 - 6 1576 c.1351G>A c.(1351-1353)GAG>AAG p.E451K ZNF780A_uc002omw.3_Intron|ZNF780A_uc002omz.2_Missense_Mutation_p.E451K|ZNF780A_uc010xvh.1_Missense_Mutation_p.E452K NM_001010880 NP_001010880 O75290 Z780A_HUMAN zinc finger protein 780A isoform b 451 C2H2-type 11. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) AAGGCCATCTCACATTCCCTA 0.403 NaN 0 0 0 0.00361 0 44 167 C19orf48 84798 broad.mit.edu 37 19 51301486 51301486 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:51301486C>T uc002ptf.2 - 5 1142 c.220G>A c.(220-222)GAC>AAC p.D74N C19orf48_uc002pte.2_RNA|C19orf48_uc002ptg.2_Missense_Mutation_p.D74N NM_199249 NP_954857 Q6RUI8 CS048_HUMAN multidrug resistance-related protein 74 ovary(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145) TAGGCCTGGTCACAATAGGGA 0.632 NaN 0 0 0 0.002299 0 23 129 ZNF528 84436 broad.mit.edu 37 19 52909178 52909178 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:52909178G>A uc002pzh.2 + 5 460 c.34G>A c.(34-36)GAT>AAT p.D12N ZNF528_uc002pzi.2_5'UTR NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 12 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) GAAATTCATGGATGTGGCCAT 0.458 NaN 0 0 0 0.009718 0 39 234 ZNF534 147658 broad.mit.edu 37 19 52942185 52942185 + Missense_Mutation SNP A A G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:52942185A>G uc002pzk.2 + 4 1572 c.1511A>G c.(1510-1512)GAG>GGG p.E504G ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.2_Missense_Mutation_p.E491G NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CATACTGGAGAGAAGCTTTAC 0.398 NaN 0 0 0 0.000602 0 5 28 NLRP9 338321 broad.mit.edu 37 19 56243996 56243996 + Missense_Mutation SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:56243996C>G uc002qly.2 - 2 1229 c.1201G>C c.(1201-1203)GAG>CAG p.E401Q NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 401 NACHT. cytoplasm ATP binding skin(4)|ovary(2)|breast(1) 7 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CAAATTCCCTCTGCAGCCAAA 0.458 NaN 0 0 0 0.003954 0 20 143 ZNF71 58491 broad.mit.edu 37 19 57133733 57133733 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr19:57133733G>A uc002qnm.3 + 3 1316 c.1078G>A c.(1078-1080)GGC>AGC p.G360S NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 360 C2H2-type 9. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) CAGCGAGTGCGGCAAGGCCTT 0.627 NaN 0 0 0 0.012319 0 21 98 BIRC6 57448 broad.mit.edu 37 2 32640936 32640936 + Silent SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr2:32640936C>G uc010ezu.2 + 10 2711 c.2577C>G c.(2575-2577)CTC>CTG p.L859L NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 859 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TTACCTCGCTCATTTTGCTTC 0.388 NaN 0 0 0 0.00333 0 22 26 ANAPC1 64682 broad.mit.edu 37 2 112541911 112541911 + Missense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr2:112541911G>T uc002thi.2 - 41 5231 c.4984C>A c.(4984-4986)CTT>ATT p.L1662I NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1662 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 TGCTTTAAAAGATGGAGTTCT 0.438 NaN 1 0 3.80469e-20 0.009535 4.43881e-20 21 148 MARCO 8685 broad.mit.edu 37 2 119752005 119752005 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr2:119752005C>T uc002tln.1 + 17 1604 c.1472C>T c.(1471-1473)ACG>ATG p.T491M MARCO_uc010yyf.1_Missense_Mutation_p.T413M NM_006770 NP_006761 Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 491 SRCR.|Extracellular (Potential). cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity ovary(3)|skin(2)|central_nervous_system(1) 6 TGTCGGGGCACGGAGAGTACC 0.552 NaN 0 0 0 0.007413 0 17 60 TTN 7273 broad.mit.edu 37 2 179404371 179404371 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr2:179404371G>A uc010zfg.1 - 301 90941 c.90717C>T c.(90715-90717)GAC>GAT p.D30239D uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.D23934D|TTN_uc010zfi.1_Silent_p.D23867D|TTN_uc010zfj.1_Silent_p.D23742D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31166 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGACTTGGATGTCATCATATT 0.507 NaN 0 0 0 0.00623 0 38 56 TTN 7273 broad.mit.edu 37 2 179528611 179528611 + Missense_Mutation SNP T T G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr2:179528611T>G uc010zfk.1 - 15 1369 c.821A>C c.(820-822)GAG>GCG p.E274A TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron Q8WZ42 TITIN_HUMAN SubName: Full=Titin; Flags: Fragment; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCGGATAACCTCTTTGGAAGC 0.418 NaN 0 0 0 0.003271 0 30 115 ZDBF2 57683 broad.mit.edu 37 2 207169716 207169716 + Missense_Mutation SNP T T C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr2:207169716T>C uc002vbp.2 + 5 714 c.464T>C c.(463-465)ATT>ACT p.I155T NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 155 nucleic acid binding|zinc ion binding ovary(3) 3 GTTCATAAAATTGGGGCCAGT 0.448 NaN 0 0 0 0.001855 0 14 10 PCSK2 5126 broad.mit.edu 37 20 17339006 17339006 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr20:17339006G>A uc002wpm.2 + 3 637 c.317G>A c.(316-318)CGA>CAA p.R106Q PCSK2_uc002wpl.2_Missense_Mutation_p.R87Q|PCSK2_uc010zrm.1_Missense_Mutation_p.R71Q NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 106 enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGATTTGACCGAAAAAAGCGA 0.388 NaN 0 0 0 0.005443 0 22 52 ADAMTS5 11096 broad.mit.edu 37 21 28302365 28302365 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr21:28302365C>T uc002ymg.2 - 7 2794 c.2065G>A c.(2065-2067)GAA>AAA p.E689K NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 689 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 AGCCTACATTCAGTGCCATCG 0.478 NaN 0 0 0 0.00874 0 38 102 COMT 1312 broad.mit.edu 37 22 19951164 19951164 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr22:19951164C>T uc002zqu.2 + 4 614 c.365C>T c.(364-366)TCA>TTA p.S122L COMT_uc002zqt.2_Missense_Mutation_p.S122L|COMT_uc002zqv.2_Missense_Mutation_p.S122L|COMT_uc002zqw.2_Missense_Mutation_p.S122L|COMT_uc011ahd.1_Missense_Mutation_p.S122L|COMT_uc002zqx.2_Missense_Mutation_p.S122L NM_000754 NP_000745 P21964 COMT_HUMAN catechol-O-methyltransferase isoform MB-COMT 122 S-adenosyl-L-methionine. neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding ovary(1) 1 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) TGTGGCTACTCAGCTGTGCGC 0.647 NaN 0 0 0 0.003755 0 33 38 MTMR3 8897 broad.mit.edu 37 22 30415660 30415660 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr22:30415660G>A uc003agv.3 + 17 2340 c.2012G>A c.(2011-2013)AGA>AAA p.R671K MTMR3_uc003agu.3_Missense_Mutation_p.R671K|MTMR3_uc003agw.3_Missense_Mutation_p.R671K NM_021090 NP_066576 Q13615 MTMR3_HUMAN myotubularin-related protein 3 isoform c 671 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|ovary(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) AAGCCCACCAGAGTGCCGGGG 0.622 NaN 0 0 0 0.00361 0 53 38 ELFN2 114794 broad.mit.edu 37 22 37769638 37769638 + Missense_Mutation SNP T T A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr22:37769638T>A uc003asq.3 - 3 2723 c.1937A>T c.(1936-1938)GAC>GTC p.D646V NM_052906 NP_443138 Q5R3F8 LRFN6_HUMAN leucine rich repeat containing 62 646 Cytoplasmic (Potential). cell surface|integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Melanoma(58;0.0574) GTCGGGCACGTCCAGGCTAAA 0.672 NaN 0 0 0 0.001168 0 5 10 CYB5R3 1727 broad.mit.edu 37 22 43032743 43032743 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr22:43032743G>A uc003bcz.2 - 2 215 c.131C>T c.(130-132)CCG>CTG p.P44L CYB5R3_uc010gzc.1_5'UTR|CYB5R3_uc003bcw.2_Missense_Mutation_p.P34L|CYB5R3_uc011aps.1_Missense_Mutation_p.P77L|CYB5R3_uc003bcy.2_Missense_Mutation_p.P21L|CYB5R3_uc003bcx.2_Missense_Mutation_p.P21L NM_000398 NP_000389 P00387 NB5R3_HUMAN cytochrome b5 reductase 3 isoform m 44 FAD-binding FR-type. blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane cytochrome-b5 reductase activity skin(1) 1 NADH(DB00157) GAGCCGCAGCGGGTACTTGAT 0.632 NaN 0 0 0 0.004482 0 7 7 OGG1 4968 broad.mit.edu 37 3 9798767 9798767 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:9798767G>A uc003bsi.2 + 7 1314 c.971G>A c.(970-972)CGC>CAC p.R324H OGG1_uc003bsh.2_3'UTR|OGG1_uc003bsj.2_Missense_Mutation_p.A330T|OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|OGG1_uc003bsp.1_Missense_Mutation_p.A95T|OGG1_uc010hcm.1_Missense_Mutation_p.A117T|OGG1_uc003bsq.1_Missense_Mutation_p.A39T|OGG1_uc003bsr.1_Missense_Mutation_p.R89H NM_002542 NP_002533 O15527 OGG1_HUMAN 8-oxoguanine DNA-glycosylase 1 isoform 1a 324 depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation mitochondrion|nuclear matrix|nuclear speck damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding 0 Medulloblastoma(99;0.227) GCCGACCTGCGCCAATCCCGC 0.602 NaN BER_DNA_glycosylases 0 0 0 0.012213 0 32 110 PPARG 5468 broad.mit.edu 37 3 12475606 12475606 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:12475606C>T uc003bwx.2 + 7 1571 c.1480C>T c.(1480-1482)CAC>TAC p.H494Y PPARG_uc003bwr.2_Missense_Mutation_p.H466Y|PPARG_uc003bws.2_Missense_Mutation_p.H466Y|PPARG_uc003bwu.2_Missense_Mutation_p.H466Y|PPARG_uc003bwv.2_3'UTR NM_015869 NP_056953 P37231 PPARG_HUMAN peroxisome proliferative activated receptor 494 Ligand-binding. activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation cytosol|nucleoplasm activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding ovary(1)|kidney(1) 2 Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197) CATGAGTCTTCACCCGCTCCT 0.502 NaN T PAX8 follicular thyroid Insulin resistance ; lipodystrophy|familial partial L;diabetes mellitus|insulin-resistantI|with acanthosis nigricans and hypertension 0 0 0 0.012213 0 29 16 GLYCTK 132158 broad.mit.edu 37 3 52326880 52326880 + Missense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:52326880G>T uc003ddo.2 + 5 1406 c.1310G>T c.(1309-1311)TGG>TTG p.W437L GLYCTK_uc003ddq.2_3'UTR|GLYCTK_uc003ddm.2_Intron|GLYCTK_uc003ddn.2_Intron|GLYCTK_uc003ddp.1_Intron|GLYCTK_uc003ddr.2_Missense_Mutation_p.W101L NM_145262 NP_660305 Q8IVS8 GLCTK_HUMAN glycerate kinase isoform 1 437 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding 0 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) TTGAGAAGGTGGCCGCTGGGG 0.662 NaN 1 0 1.81118e-26 0.00361 2.13279e-26 44 34 OR5K1 26339 broad.mit.edu 37 3 98188871 98188871 + Missense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:98188871G>T uc003dsm.2 + 1 451 c.451G>T c.(451-453)GCT>TCT p.A151S NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 GGCCTTCATAGCTGGAAACCT 0.443 NaN 1 0 4.14481e-20 0.00623 4.79125e-20 39 76 TAGLN3 29114 broad.mit.edu 37 3 111719695 111719695 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:111719695C>T uc003dym.2 + 3 635 c.257C>T c.(256-258)GCT>GTT p.A86V TAGLN3_uc003dyl.2_Missense_Mutation_p.A86V|TAGLN3_uc003dyn.2_Missense_Mutation_p.A86V|TAGLN3_uc003dyo.2_Missense_Mutation_p.A86V NM_001008272 NP_001008273 Q9UI15 TAGL3_HUMAN transgelin 3 86 CH. central nervous system development|muscle organ development 0 TCAAAGATGGCTTTTAAGCAG 0.488 NaN 0 0 0 0.00361 0 60 225 GRAMD1C 54762 broad.mit.edu 37 3 113627845 113627845 + Missense_Mutation SNP A A C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:113627845A>C uc003eaq.3 + 9 906 c.830A>C c.(829-831)AAA>ACA p.K277T GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA|GRAMD1C_uc003ear.2_Missense_Mutation_p.K110T|GRAMD1C_uc003eas.2_Missense_Mutation_p.K72T NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 277 integral to membrane ovary(2)|skin(1) 3 AAACAGACCAAAAAGAGTCTC 0.363 NaN 0 0 0 0.00361 0 77 20 PARP15 165631 broad.mit.edu 37 3 122354758 122354758 + Nonsense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:122354758C>A uc003efm.2 + 12 1914 c.1848C>A c.(1846-1848)TAC>TAA p.Y616* PARP15_uc003efn.2_Nonsense_Mutation_p.Y421*|PARP15_uc003efo.1_Nonsense_Mutation_p.Y363*|PARP15_uc003efp.1_Nonsense_Mutation_p.Y382*|PARP15_uc011bjt.1_Nonsense_Mutation_p.Y313* NM_001113523 NP_001106995 Q460N3 PAR15_HUMAN poly (ADP-ribose) polymerase family, member 15 594 PARP catalytic. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NAD+ ADP-ribosyltransferase activity lung(3)|upper_aerodigestive_tract(1)|ovary(1) 5 GBM - Glioblastoma multiforme(114;0.0531) AGCACATGTACGTTGTGCGAG 0.483 NaN 1 0 1.33834e-09 0.007413 1.44129e-09 19 65 CEP63 80254 broad.mit.edu 37 3 134278206 134278206 + Missense_Mutation SNP A A G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:134278206A>G uc003eqo.1 + 15 2337 c.1888A>G c.(1888-1890)AAT>GAT p.N630D CEP63_uc003eql.1_Intron|CEP63_uc003eqm.2_Intron|CEP63_uc003eqn.1_Intron NM_025180 NP_079456 Q96MT8 CEP63_HUMAN centrosomal protein 63 isoform a 630 cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly centrosome|cytosol|spindle pole protein binding ovary(1) 1 GCTAGATACAAATGAAGCCAA 0.403 NaN 0 0 0 0.008871 0 21 60 SI 6476 broad.mit.edu 37 3 164697153 164697153 + Silent SNP T T A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr3:164697153T>A uc003fei.2 - 48 5543 c.5481A>T c.(5479-5481)TCA>TCT p.S1827S NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1827 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GTGATCTTCATGACCAGTTGA 0.318 NaN HNSCC(35;0.089) 0 0 0 0.008361 0 28 117 WDR1 9948 broad.mit.edu 37 4 10079467 10079467 + Silent SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr4:10079467G>A uc003gmf.2 - 13 1762 c.1479C>T c.(1477-1479)ACC>ACT p.T493T WDR1_uc003gmg.2_Silent_p.T353T|WDR1_uc010idm.2_RNA NM_017491 NP_059830 O75083 WDR1_HUMAN WD repeat-containing protein 1 isoform 1 493 WD 9. platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding ovary(2)|pancreas(1) 3 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) AGGCCACGTCGGTCACGGGGC 0.652 NaN 0 0 0 0.000602 0 5 8 PCDH7 5099 broad.mit.edu 37 4 30726012 30726012 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr4:30726012C>T uc003gsk.1 + 1 3976 c.2968C>T c.(2968-2970)CCT>TCT p.P990S PCDH7_uc011bxw.1_Missense_Mutation_p.P943S|PCDH7_uc011bxx.1_Missense_Mutation_p.P990S NM_002589 NP_002580 O60245 PCDH7_HUMAN protocadherin 7 isoform a precursor 990 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding upper_aerodigestive_tract(1)|ovary(1)|liver(1)|skin(1) 4 GCCCGGCAGTCCTGACCTGGC 0.507 NaN 0 0 0 0.006122 0 18 41 PRKG2 5593 broad.mit.edu 37 4 82058586 82058586 + Missense_Mutation SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr4:82058586G>T uc003hmh.2 - 12 1609 c.1595C>A c.(1594-1596)GCC>GAC p.A532D PRKG2_uc011ccf.1_Missense_Mutation_p.A112D|PRKG2_uc011ccg.1_Missense_Mutation_p.A112D|PRKG2_uc011cch.1_Missense_Mutation_p.A503D NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 532 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 ACCTAAGCAGGCCTCCAGAAG 0.338 NaN 1 0 4.59853e-10 0.005443 5.03839e-10 23 64 GRID2 2895 broad.mit.edu 37 4 94344056 94344056 + Silent SNP C C T rs78407646 byFrequency TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr4:94344056C>T uc011cdt.1 + 10 1740 c.1482C>T c.(1480-1482)CAC>CAT p.H494H GRID2_uc011cdu.1_Silent_p.H399H NM_001510 NP_001501 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 494 Extracellular (Potential). glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(3)|skin(2)|large_intestine(1) 6 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CACCGGATCACAAATACGGAA 0.398 NaN 0 0 0 0.012319 0 19 39 MAP1B 4131 broad.mit.edu 37 5 71492471 71492471 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr5:71492471G>A uc003kbw.3 + 5 3530 c.3289G>A c.(3289-3291)GAG>AAG p.E1097K MAP1B_uc010iyw.1_Missense_Mutation_p.E1114K|MAP1B_uc010iyx.1_Missense_Mutation_p.E971K|MAP1B_uc010iyy.1_Missense_Mutation_p.E971K NM_005909 NP_005900 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1097 microtubule|microtubule associated complex structural molecule activity large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1) 5 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) CTCAGAGAGCGAGGCCACCGC 0.522 NaN 0 0 0 0.004482 0 8 14 CAMK4 814 broad.mit.edu 37 5 110784840 110784840 + Silent SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr5:110784840C>G uc011cvj.1 + 8 663 c.564C>G c.(562-564)CTC>CTG p.L188L CAMK4_uc003kpf.2_Silent_p.L188L|CAMK4_uc010jbv.2_5'UTR NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 188 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) ATTTTGGACTCTCTAAAATTG 0.299 NaN 0 0 0 0.004482 0 9 29 FAM170A 340069 broad.mit.edu 37 5 118969677 118969677 + Missense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr5:118969677C>A uc003ksm.2 + 3 444 c.234C>A c.(232-234)GAC>GAA p.D78E FAM170A_uc003ksl.2_Missense_Mutation_p.D78E|FAM170A_uc003ksn.2_Missense_Mutation_p.D78E|FAM170A_uc003kso.2_Missense_Mutation_p.D31E NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 78 intracellular zinc ion binding skin(1) 1 TACATCGAGACAGCCCCCAGC 0.502 NaN 1 0 0.00198382 0.001984 0.00201582 7 35 RAPGEF6 51735 broad.mit.edu 37 5 130834176 130834176 + Missense_Mutation SNP T T C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr5:130834176T>C uc003kvn.1 - 12 1585 c.1379A>G c.(1378-1380)AAA>AGA p.K460R RAPGEF6_uc003kvp.1_Missense_Mutation_p.K510R|RAPGEF6_uc003kvo.1_Missense_Mutation_p.K460R|RAPGEF6_uc010jdi.1_Missense_Mutation_p.K460R|RAPGEF6_uc010jdj.1_Missense_Mutation_p.K460R|RAPGEF6_uc003kvq.2_Missense_Mutation_p.K177R|RAPGEF6_uc003kvr.2_Missense_Mutation_p.K460R|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.K460R NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 460 N-terminal Ras-GEF. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) TTCCAATAGTTTGATCCCAAC 0.318 NaN 0 0 0 0.00361 0 64 23 CSF1R 1436 broad.mit.edu 37 5 149449851 149449851 + Missense_Mutation SNP T T G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr5:149449851T>G uc003lrl.2 - 8 1408 c.1213A>C c.(1213-1215)AGC>CGC p.S405R CSF1R_uc011dcd.1_Missense_Mutation_p.S257R|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.S405R NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 405 Ig-like C2-type 5.|Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CATATGACGCTTACCTCTGGG 0.597 NaN 0 0 0 0.007835 0 32 21 PECI 10455 broad.mit.edu 37 6 4133898 4133898 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:4133898C>T uc003mwf.2 - 2 135 c.98G>A c.(97-99)AGA>AAA p.R33K PECI_uc003mwc.2_5'UTR|PECI_uc003mwd.2_Missense_Mutation_p.R3K|PECI_uc003mwe.2_5'UTR|PECI_uc010jnr.1_RNA|uc003mwg.1_5'Flank NM_206836 NP_996667 O75521 ECI2_HUMAN peroxisomal D3,D2-enoyl-CoA isomerase isoform 2 33 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding 0 Ovarian(93;0.0925) all_hematologic(90;0.0895) CATTGCTGTTCTATTCATGTG 0.413 NaN 0 0 0 0.00361 0 48 32 HIVEP1 3096 broad.mit.edu 37 6 12120592 12120592 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:12120592C>T uc003nac.2 + 4 743 c.564C>T c.(562-564)TCC>TCT p.S188S HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 188 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCACTACGTCCCCCTCCTATA 0.448 NaN 0 0 0 0.003755 0 31 45 CLIC5 53405 broad.mit.edu 37 6 45917028 45917028 + Silent SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:45917028G>T uc003oxv.3 - 3 847 c.741C>A c.(739-741)ATC>ATA p.I247I CLIC5_uc003oxu.3_Silent_p.I88I|CLIC5_uc003oxx.2_Silent_p.I88I NM_001114086 NP_001107558 Q9NZA1 CLIC5_HUMAN chloride intracellular channel 5 isoform a 247 female pregnancy actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|Golgi apparatus|insoluble fraction|microtubule organizing center protein binding|voltage-gated chloride channel activity ovary(1)|skin(1) 2 GGAACTCCTCGATCTTATTGA 0.532 NaN 1 0 8.4185e-14 0.012213 9.47082e-14 29 73 NMBR 4829 broad.mit.edu 37 6 142397093 142397093 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:142397093G>A uc003qiu.2 - 3 1006 c.865C>T c.(865-867)CGG>TGG p.R289W NM_002511 NP_002502 P28336 NMBR_HUMAN neuromedin B receptor 289 Extracellular (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger cytoplasm|integral to plasma membrane bombesin receptor activity central_nervous_system(3)|breast(1) 4 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013) TTGAAAGACCGATACATGTAA 0.428 NaN 0 0 0 0.002299 0 23 27 STXBP5 134957 broad.mit.edu 37 6 147648378 147648378 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:147648378C>T uc003qlz.2 + 18 2207 c.2046C>T c.(2044-2046)CCC>CCT p.P682P STXBP5_uc010khz.1_Silent_p.P682P|STXBP5_uc003qlx.2_RNA|STXBP5_uc003qly.2_Silent_p.P353P|STXBP5_uc003qma.2_Silent_p.P29P NM_001127715 NP_001121187 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) isoform b 682 WD 10. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding 0 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) GGAGAGAACCCCGATCTCCTC 0.418 NaN 0 0 0 0.003271 0 27 23 GLCCI1 113263 broad.mit.edu 37 7 8110599 8110599 + Silent SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:8110599C>A uc003srk.2 + 6 1574 c.1015C>A c.(1015-1017)CGG>AGG p.R339R NM_138426 NP_612435 Q86VQ1 GLCI1_HUMAN glucocorticoid induced transcript 1 339 0 Ovarian(82;0.0608) UCEC - Uterine corpus endometrioid carcinoma (126;0.206) TGCTCATTACCGGAGCAGTAG 0.493 NaN 1 0 2.70639e-06 0.002299 2.81823e-06 21 60 UPK3B 80761 broad.mit.edu 37 7 76140331 76140331 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:76140331C>T uc003ufq.2 + 1 587 c.362C>T c.(361-363)GCC>GTC p.A121V UPK3B_uc003ufo.2_Missense_Mutation_p.A66V|UPK3B_uc010ldk.1_Missense_Mutation_p.A66V NM_030570 NP_085047 Q9BT76 UPK3B_HUMAN uroplakin 3B isoform a 121 Lumenal (Potential). negative regulation of gene expression integral to membrane|plasma membrane central_nervous_system(1) 1 Myeloproliferative disorder(862;0.204) CTTGCCAGCGCCAGCGATACC 0.632 NaN 0 0 0 0.000602 0 5 19 SLC25A40 55972 broad.mit.edu 37 7 87476434 87476434 + Missense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:87476434C>A uc003uje.2 - 8 812 c.461G>T c.(460-462)GGT>GTT p.G154V NM_018843 NP_061331 Q8TBP6 S2540_HUMAN mitochondrial carrier family protein 154 Helical; Name=3; (Potential).|Solcar 2. transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1) 1 Esophageal squamous(14;0.00202) AGTTACTGCACCAACTAATAC 0.303 NaN 1 0 5.1993e-48 0.00361 6.18029e-48 116 108 TECPR1 25851 broad.mit.edu 37 7 97862830 97862830 + Silent SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:97862830C>G uc003upg.2 - 11 1780 c.1575G>C c.(1573-1575)CCG>CCC p.P525P TECPR1_uc003uph.1_Silent_p.P455P NM_015395 NP_056210 Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 525 integral to membrane protein binding pancreas(1) 1 CCACCCCATACGGCTCCTCCA 0.667 NaN 0 0 0 0.000602 0 5 12 BAIAP2L1 55971 broad.mit.edu 37 7 97922840 97922840 + Missense_Mutation SNP A A G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:97922840A>G uc003upj.2 - 14 1792 c.1529T>C c.(1528-1530)ATT>ACT p.I510T NM_018842 NP_061330 Q9UHR4 BI2L1_HUMAN BAI1-associated protein 2-like 1 510 Binds F-actin. Missing: Loss ability to induce the formation of actin clusters; induce the formation of long filopodia. filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction cell junction|cytoskeleton|cytosol|nucleus actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding ovary(1) 1 all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126) STAD - Stomach adenocarcinoma(171;0.215) CTCTCATCGAATGATGGGTGC 0.567 NaN 0 0 0 0.00361 0 153 90 EXOC4 60412 broad.mit.edu 37 7 133314839 133314839 + Missense_Mutation SNP T T C TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:133314839T>C uc003vrk.2 + 10 1494 c.1459T>C c.(1459-1461)TTT>CTT p.F487L EXOC4_uc011kpo.1_Missense_Mutation_p.F386L|EXOC4_uc003vrl.2_Missense_Mutation_p.F97L|EXOC4_uc011kpp.1_Missense_Mutation_p.F19L NM_021807 NP_068579 Q96A65 EXOC4_HUMAN SEC8 protein isoform a 487 vesicle docking involved in exocytosis exocyst protein N-terminus binding ovary(4)|large_intestine(3)|upper_aerodigestive_tract(1)|skin(1) 9 Esophageal squamous(399;0.129) AGGAACAAAATTTGTCTGCAA 0.343 NaN 0 0 0 0.00361 0 104 61 CNTNAP2 26047 broad.mit.edu 37 7 147869367 147869367 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr7:147869367G>A uc003weu.1 + 18 3323 c.2807G>A c.(2806-2808)TGC>TAC p.C936Y NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 936 Laminin G-like 3.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) TTCCTGGGCTGCATCCGCTCC 0.532 NaN HNSCC(39;0.1) 0 0 0 0.004482 0 9 65 SORBS3 10174 broad.mit.edu 37 8 22412401 22412401 + Missense_Mutation SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:22412401C>T uc003xbv.2 + 3 468 c.128C>T c.(127-129)TCC>TTC p.S43F SORBS3_uc011kzk.1_RNA NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 43 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AATGGTGGCTCCAACACCCTT 0.657 NaN 0 0 0 0.010771 0 39 57 ZFHX4 79776 broad.mit.edu 37 8 77766952 77766952 + Missense_Mutation SNP G G A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:77766952G>A uc003yav.2 + 10 8047 c.7660G>A c.(7660-7662)GGT>AGT p.G2554S ZFHX4_uc003yau.1_Missense_Mutation_p.G2599S|ZFHX4_uc003yaw.1_Missense_Mutation_p.G2554S NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2554 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGGGAATAGCGGTGAAGACCA 0.458 NaN HNSCC(33;0.089) 0 0 0 0.001368 0 12 29 SLC10A5 347051 broad.mit.edu 37 8 82606405 82606405 + Missense_Mutation SNP T T G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:82606405T>G uc011lfs.1 - 1 803 c.803A>C c.(802-804)CAT>CCT p.H268P NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN solute carrier family 10 (sodium/bile acid 268 Extracellular (Potential). integral to membrane bile acid:sodium symporter activity 0 AACAGGAATATGGAATGTACC 0.363 NaN 0 0 0 0.000602 0 4 123 STK3 6788 broad.mit.edu 37 8 99468111 99468111 + Missense_Mutation SNP C C G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:99468111C>G uc003yip.2 - 11 1576 c.1435G>C c.(1435-1437)GAT>CAT p.D479H STK3_uc003yio.2_Missense_Mutation_p.D507H NM_006281 NP_006272 Q13188 STK3_HUMAN serine/threonine kinase 3 479 SARAH. apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis cytoplasm|nucleus ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity lung(3)|ovary(1) 4 Breast(36;2.4e-06) Breast(495;0.106) OV - Ovarian serous cystadenocarcinoma(57;0.0382) KIRC - Kidney renal clear cell carcinoma(542;9.44e-06) TCCATCGCATCCAGAATGGGC 0.423 NaN 0 0 0 0.00278 0 20 25 RSPO2 340419 broad.mit.edu 37 8 108972969 108972969 + Silent SNP A A G rs113070894 TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:108972969A>G uc003yms.2 - 4 1018 c.360T>C c.(358-360)CAT>CAC p.H120H RSPO2_uc003ymq.2_Silent_p.H53H|RSPO2_uc003ymr.2_Silent_p.H57H NM_178565 NP_848660 Q6UXX9 RSPO2_HUMAN R-spondin family, member 2 precursor 120 FU. Wnt receptor signaling pathway extracellular region heparin binding skin(3)|ovary(2)|pancreas(1)|lung(1) 7 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) AACGGCCTCTATGCAAATAAA 0.358 NaN 0 0 0 0.004289 0 30 46 SLC30A8 169026 broad.mit.edu 37 8 118159254 118159254 + Missense_Mutation SNP C C A rs148043363 byFrequency TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:118159254C>A uc003yoh.2 + 2 363 c.133C>A c.(133-135)CTG>ATG p.L45M SLC30A8_uc010mcz.2_Translation_Start_Site|SLC30A8_uc011lia.1_Translation_Start_Site|SLC30A8_uc003yog.2_Translation_Start_Site NM_173851 NP_776250 Q8IWU4 ZNT8_HUMAN solute carrier family 30 member 8 45 Cytoplasmic (Potential). insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity ovary(2)|skin(2) 4 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ACCAGAGGAGCTGGAGTCAGG 0.502 NaN 1 0 4.16155e-14 0.00874 4.72392e-14 43 95 PARP10 84875 broad.mit.edu 37 8 145057980 145057980 + Splice_Site SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr8:145057980C>T uc003zal.3 - 8 1886 c.1778_splice c.e8-1 p.E593_splice PARP10_uc003zak.3_Splice_Site_p.E290_splice|PARP10_uc011lku.1_Splice_Site_p.E605_splice|PARP10_uc011lkv.1_Splice_Site|PARP10_uc003zam.2_Splice_Site_p.E584_splice NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CGGACCTCCTCTGGGGGCAGG 0.632 NaN 0 0 0 0.008291 0 9 35 CDKN2A 1029 broad.mit.edu 37 9 21971120 21971120 + Nonsense_Mutation SNP G G A rs121913388 TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr9:21971120G>A uc003zpk.2 - 2 450 c.238C>T c.(238-240)CGA>TGA p.R80* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 80 ANK 3. R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) TGCACGGGTCGGGTGAGAGTG 0.726 R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT) 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 0 0 0 0.00245 0 10 2 ZCCHC6 79670 broad.mit.edu 37 9 88937354 88937354 + Missense_Mutation SNP C C A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr9:88937354C>A uc004aoq.2 - 14 3129 c.2914G>T c.(2914-2916)GGT>TGT p.G972C ZCCHC6_uc010mqe.2_5'Flank|ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Intron|ZCCHC6_uc004aou.2_Missense_Mutation_p.G972C NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 972 CCHC-type 1. RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TTTAGATGACCCTCTCGTTTG 0.408 NaN 1 0 3.41278e-10 0.00499 3.77202e-10 15 36 DAPK1 1612 broad.mit.edu 37 9 90262309 90262309 + Silent SNP G G T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr9:90262309G>T uc004apc.2 + 14 1458 c.1320G>T c.(1318-1320)GTG>GTT p.V440V DAPK1_uc004ape.2_Silent_p.V440V|DAPK1_uc004apd.2_Silent_p.V440V|DAPK1_uc011ltg.1_Silent_p.V440V|DAPK1_uc011lth.1_Silent_p.V177V|DAPK1_uc004apf.1_5'UTR NM_004938 NP_004929 P53355 DAPK1_HUMAN death-associated protein kinase 1 440 ANK 2. apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity ovary(1)|breast(1) 2 CTTTGGATGTGAAAGACAAGG 0.522 NaN Chronic_Lymphocytic_Leukemia_Familial_Clustering_of 1 0 6.94344e-10 0.006122 7.54202e-10 15 47 CKS2 1164 broad.mit.edu 37 9 91926143 91926143 + Translation_Start_Site SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr9:91926143C>T uc004aqh.2 + 1 31 c.-64C>T c.(-66--62)GACGT>GATGT hsa-mir-3153|MI0014180_5'Flank NM_001827 NP_001818 P33552 CKS2_HUMAN CDC28 protein kinase 2 cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization cyclin-dependent protein kinase regulator activity 0 CTGGGCTGGACGTGGTTTTGT 0.607 NaN 0 0 0 0.001984 0 7 22 ABL1 25 broad.mit.edu 37 9 133729585 133729585 + Missense_Mutation SNP T T G TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr9:133729585T>G uc004bzw.2 + 2 217 c.214T>G c.(214-216)TTT>GTT p.F72V ABL1_uc004bzv.2_Missense_Mutation_p.F91V NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 72 SH3. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) ACTGTATGATTTTGTGGCCAG 0.488 NaN T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL 0 0 0 0.009096 0 4 89 ZCCHC18 644353 broad.mit.edu 37 X 103359015 103359015 + Silent SNP C C T TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chrX:103359015C>T uc011msh.1 + 3 1529 c.213C>T c.(211-213)GTC>GTT p.V71V MCART6_uc004elu.2_Intron|ZCCHC18_uc011msg.1_Intron NM_001143978 NP_001137450 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 71 nucleic acid binding|zinc ion binding 0 TCAATGAGGTCCTGCCAGATT 0.507 NaN 0 0 0 0.003954 0 24 7 ANGPTL5 253935 broad.mit.edu 37 11 101762080 101762080 + Frame_Shift_Del DEL T T - TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr11:101762080delT uc001pgl.2 - 9 1693 c.1097delA c.(1096-1098)AACfs p.N366fs NM_178127 NP_835228 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 precursor 366 Fibrinogen C-terminal. signal transduction extracellular space receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) AGGTGAGTTGTTTTTGGTCCA 0.348 NaN NaN NaN NaN NaN NaN 7 1294 --- --- MMP20 9313 broad.mit.edu 37 11 102487558 102487558 + Frame_Shift_Del DEL T T - TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr11:102487558delT uc001phc.2 - 2 372 c.359delA c.(358-360)AATfs p.N120fs NM_004771 NP_004762 O60882 MMP20_HUMAN matrix metalloproteinase 20 preproprotein 120 proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding urinary_tract(1)|skin(1) 2 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TGTCAAAGTATTTTTTTTCCA 0.398 NaN NaN NaN NaN NaN NaN 8 296 --- --- MMP1 4312 broad.mit.edu 37 11 102668791 102668793 + In_Frame_Del DEL CAG CAG - TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr11:102668791_102668793delCAG uc001phi.2 - 1 174_176 c.31_33delCTG c.(31-33)CTGdel p.L11del uc001phh.1_RNA|MMP1_uc010ruv.1_Intron NM_002421 NP_002412 P03956 MMP1_HUMAN matrix metalloproteinase 1 isoform 1 11 blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1)|lung(1) 4 all_epithelial(12;0.0127) all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233) OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014) CACCCCAGAACAGCAGCAGCAGC 0.498 NaN NaN NaN NaN NaN NaN 8 339 --- --- SSH1 54434 broad.mit.edu 37 12 109194663 109194664 + Frame_Shift_Del DEL AT AT - TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr12:109194663_109194664delAT uc001tnm.2 - 12 1127_1128 c.1040_1041delAT c.(1039-1041)AATfs p.N347fs SSH1_uc001tnl.2_Frame_Shift_Del_p.N35fs|SSH1_uc010sxg.1_Frame_Shift_Del_p.N358fs|SSH1_uc001tnn.3_Frame_Shift_Del_p.N347fs NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 347 Tyrosine-protein phosphatase. actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 CAGGAAAAAAATTATCGATTTC 0.351 NaN NaN NaN NaN NaN NaN 36 98 --- --- LRRC16A 55604 broad.mit.edu 37 6 25551263 25551264 + Frame_Shift_Ins INS - - A TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:25551263_25551264insA uc011djw.1 + 27 2830_2831 c.2454_2455insA c.(2452-2457)GTTAAAfs p.V818fs LRRC16A_uc010jpx.2_Frame_Shift_Ins_p.V818fs|LRRC16A_uc010jpy.2_Frame_Shift_Ins_p.V818fs|LRRC16A_uc003nfa.1_Frame_Shift_Ins_p.V172fs NM_017640 NP_060110 Q5VZK9 LR16A_HUMAN leucine rich repeat containing 16A 818_819 actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process cytosol|lamellipodium|nucleus ovary(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 GTACCTTTGTTAAAAATGTCCT 0.381 NaN NaN NaN NaN NaN NaN 40 99 --- --- BCLAF1 9774 broad.mit.edu 37 6 136582545 136582545 + Frame_Shift_Del DEL C C - TCGA-GD-A3OS-01A-12D-A21Z-08 TCGA-GD-A3OS-10A-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b3e164d-aaa0-4bb5-b7b8-6264b2746a47 257369d6-d4ac-4b67-8c30-de25dbdb76af g.chr6:136582545delC uc003qgx.1 - 12 2868 c.2615delG c.(2614-2616)GGCfs p.G872fs BCLAF1_uc011edb.1_Frame_Shift_Del_p.G151fs|BCLAF1_uc003qgw.1_Frame_Shift_Del_p.G699fs|BCLAF1_uc003qgy.1_Frame_Shift_Del_p.G821fs|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Frame_Shift_Del_p.G870fs NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 872 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GCGCCCTCTGCCACGTTGAAA 0.428 NaN NaN NaN NaN NaN NaN 81 282 --- ---