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 PTPRU 10076 broad.mit.edu 37 1 29638252 29638252 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:29638252G>A uc001bru.2 + 22 3193 c.3083G>A c.(3082-3084)CGC>CAC p.R1028H PTPRU_uc001brv.2_Missense_Mutation_p.R1024H|PTPRU_uc001brw.2_Missense_Mutation_p.R1018H|PTPRU_uc009vtq.2_Missense_Mutation_p.R1024H|PTPRU_uc009vtr.2_Missense_Mutation_p.R1015H NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1028 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) TATGTCGTGCGCACTTTTGCC 0.602000 CYP4B1 1580 broad.mit.edu 37 1 47280902 47280902 + Missense_Mutation SNP C C T rs56180718 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:47280902C>T uc001cqm.3 + 8 1120 c.1036C>T c.(1036-1038)CGC>TGC p.R346C CYP4B1_uc009vyl.1_Missense_Mutation_p.R183C|CYP4B1_uc001cqn.3_Missense_Mutation_p.R347C|CYP4B1_uc009vym.2_Missense_Mutation_p.R332C|CYP4B1_uc010omk.1_Missense_Mutation_p.R183C NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 346 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) AGAGGAGGTCCGCGAGATCCT 0.582000 LRRC7 57554 broad.mit.edu 37 1 70505052 70505052 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:70505052G>A uc001dep.2 + 19 3461 c.3431G>A c.(3430-3432)GGC>GAC p.G1144D LRRC7_uc009wbg.2_Missense_Mutation_p.G428D|LRRC7_uc001deq.2_Missense_Mutation_p.G385D NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1144 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 GATAGGTACGGCAGACCCCCA 0.552000 LRRIQ3 127255 broad.mit.edu 37 1 74507414 74507414 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:74507414C>G uc001dfy.3 - 7 1393 c.1201G>C c.(1201-1203)GAG>CAG p.E401Q LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 401 ovary(2) 2 ATACTCCGCTCCAATCGTATG 0.358000 SPAG17 200162 broad.mit.edu 37 1 118623787 118623787 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:118623787C>G uc001ehk.2 - 15 2214 c.2146G>C c.(2146-2148)GAT>CAT p.D716H NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 716 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TGTCTATTATCAGGGACTGAG 0.368000 GJA8 2703 broad.mit.edu 37 1 147380425 147380425 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:147380425G>A uc001epu.1 + 2 406 c.343G>A c.(343-345)GGC>AGC p.G115S NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 115 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) GGAGGAGCTGGGCCAGCAGGC 0.657000 KIRREL 55243 broad.mit.edu 37 1 158063171 158063171 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:158063171C>T uc001frn.3 + 12 1918 c.1514C>T c.(1513-1515)GCG>GTG p.A505V KIRREL_uc010pib.1_Missense_Mutation_p.A405V|KIRREL_uc009wsq.2_Missense_Mutation_p.A341V|KIRREL_uc001fro.3_Missense_Mutation_p.A319V NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 505 Helical; (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.0378) ACCATCGGCGCGAGCATCCTG 0.582000 PBX1 5087 broad.mit.edu 37 1 164761730 164761730 + Splice_Site SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:164761730G>C uc001gct.2 + 3 524 c.266_splice c.e3-1 p.V89_splice PBX1_uc010pku.1_Splice_Site_p.V89_splice|PBX1_uc010pkv.1_Splice_Site_p.V6_splice|PBX1_uc001gcs.2_Splice_Site_p.V89_splice|PBX1_uc010pkw.1_Splice_Site NM_002585 NP_002576 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) soft_tissue(3)|lung(1)|skin(1) 5 TTTTTCTGTAGTTTTGAGTAT 0.488000 T TCF3|EWSR1 pre B-ALL|myoepithelioma PAPPA2 60676 broad.mit.edu 37 1 176668245 176668245 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:176668245A>C uc001gkz.2 + 8 3920 c.2756A>C c.(2755-2757)GAT>GCT p.D919A PAPPA2_uc009www.2_RNA NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN pappalysin 2 isoform 1 919 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding ovary(7)|central_nervous_system(5)|skin(2)|lung(1)|breast(1) 16 GGGCCTCCTGATGTGGATCAG 0.542000 CFH 3075 broad.mit.edu 37 1 196695654 196695654 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:196695654A>G uc001gtj.3 + 13 2168 c.1928A>G c.(1927-1929)GAA>GGA p.E643G NM_000186 NP_000177 P08603 CFAH_HUMAN complement factor H isoform a precursor 643 Sushi 11. complement activation, alternative pathway extracellular space skin(4)|ovary(1)|breast(1) 6 AATGTTAAGGAAAAAACGAAA 0.338000 PLXNA2 5362 broad.mit.edu 37 1 208201480 208201480 + Silent SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:208201480G>C uc001hgz.2 - 31 6221 c.5463C>G c.(5461-5463)CTC>CTG p.L1821L PLXNA2_uc001hgy.2_Silent_p.L91L NM_025179 NP_079455 O75051 PLXA2_HUMAN plexin A2 precursor 1821 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane ovary(2)|central_nervous_system(1) 3 OV - Ovarian serous cystadenocarcinoma(81;0.199) TGATGGCTGGGAGCTTGGCGA 0.577000 C1orf107 27042 broad.mit.edu 37 1 210015666 210015666 + Silent SNP T T A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:210015666T>A uc001hhr.1 + 9 1618 c.1542T>A c.(1540-1542)TCT>TCA p.S514S C1orf107_uc009xcu.1_Silent_p.S229S NM_014388 NP_055203 Q68CQ4 DIEXF_HUMAN digestive-organ expansion factor homolog 514 multicellular organismal development nucleus 0 OV - Ovarian serous cystadenocarcinoma(81;0.0367) TAGACTTTTCTCGAGTGCGGA 0.453000 IARS2 55699 broad.mit.edu 37 1 220298662 220298662 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:220298662C>G uc001hmc.2 + 13 1828 c.1724C>G c.(1723-1725)CCA>CGA p.P575R NM_018060 NP_060530 Q9NSE4 SYIM_HUMAN mitochondrial isoleucine tRNA synthetase 575 isoleucyl-tRNA aminoacylation mitochondrial matrix ATP binding|isoleucine-tRNA ligase activity ovary(2)|skin(2) 4 GBM - Glioblastoma multiforme(131;0.0554) L-Isoleucine(DB00167) CAACTTCTTCCAAAAGAAGTC 0.383000 FMN2 56776 broad.mit.edu 37 1 240555826 240555826 + Missense_Mutation SNP A A C rs112553360 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:240555826A>C uc010pyd.1 + 15 5099 c.4874A>C c.(4873-4875)GAG>GCG p.E1625A FMN2_uc010pye.1_Missense_Mutation_p.E1629A|FMN2_uc010pyf.1_Missense_Mutation_p.E240A|FMN2_uc010pyg.1_Missense_Mutation_p.E221A NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN formin 2 1625 FH2. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding ovary(4)|pancreas(3)|skin(3)|large_intestine(1)|central_nervous_system(1) 12 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATTGACCAAGAGGCAGAGGAA 0.338000 PFKFB3 5209 broad.mit.edu 37 10 6255678 6255678 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr10:6255678C>T uc001ije.2 + 2 553 c.169C>T c.(169-171)CGC>TGC p.R57C PFKFB3_uc001ijd.2_Missense_Mutation_p.R37C|PFKFB3_uc009xii.2_RNA|PFKFB3_uc010qaw.1_Missense_Mutation_p.R71C|PFKFB3_uc001ijf.2_Missense_Mutation_p.R57C NM_004566 NP_004557 Q16875 F263_HUMAN 6-phosphofructo-2-kinase/fructose-2, 57 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding ovary(2)|central_nervous_system(1) 3 GAAGCTGACTCGCTACCTCAA 0.592000 ENKUR 219670 broad.mit.edu 37 10 25273693 25273693 + Nonsense_Mutation SNP T T A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr10:25273693T>A uc001isg.1 - 5 901 c.736A>T c.(736-738)AAG>TAG p.K246* ENKUR_uc001ish.1_Nonsense_Mutation_p.K184* NM_145010 NP_659447 Q8TC29 ENKUR_HUMAN enkurin 246 cilium|flagellum calmodulin binding|SH3 domain binding 0 ATCTTGTGCTTTTCAATTATG 0.333000 HKDC1 80201 broad.mit.edu 37 10 71003047 71003047 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr10:71003047C>T uc001jpf.3 + 7 934 c.801C>T c.(799-801)GAC>GAT p.D267D HKDC1_uc010qje.1_Silent_p.D130D NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 267 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 TCGGGGACGACGGGGCCCTGG 0.587000 MKI67 4288 broad.mit.edu 37 10 129921418 129921418 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr10:129921418G>C uc001lke.2 - 3 303 c.108C>G c.(106-108)GAC>GAG p.D36E MKI67_uc001lkf.2_Missense_Mutation_p.D36E|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 36 FHA. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) GGATACGGATGTCACATTCAA 0.353000 MUC5B 727897 broad.mit.edu 37 11 1274131 1274131 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:1274131C>T uc009ycr.1 + 54 16230 c.16104C>T c.(16102-16104)AAC>AAT p.N5368N MUC5B_uc001ltb.2_Silent_p.N5049N NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 5046 cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CTGTGGCCAACGTCACCTGCG 0.627000 FAM160A2 84067 broad.mit.edu 37 11 6232745 6232745 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:6232745G>A uc001mcl.3 - 12 3269 c.2910C>T c.(2908-2910)CTC>CTT p.L970L FAM160A2_uc001mck.3_Silent_p.L984L NM_001098794 NP_001092264 Q8N612 F16A2_HUMAN hypothetical protein LOC84067 isoform 2 970 early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport FHF complex protein binding skin(2) 2 GTTAAGGATTGAGGGGCCCAC 0.567000 PRKCDBP 112464 broad.mit.edu 37 11 6341682 6341682 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:6341682C>T uc001mcu.1 - 1 59 c.25G>A c.(25-27)GGG>AGG p.G9R NM_145040 NP_659477 Q969G5 PRDBP_HUMAN protein kinase C, delta binding protein 9 0 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GGCACAGGCCCCCGCTCCAAC 0.701000 PDE3B 5140 broad.mit.edu 37 11 14889193 14889193 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:14889193C>A uc001mln.2 + 15 3381 c.3028C>A c.(3028-3030)CCA>ACA p.P1010T PDE3B_uc010rcr.1_Missense_Mutation_p.P959T NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 1010 Catalytic (By similarity). cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TGGTTTGCTACCAGGTCAGTG 0.418000 UBXN1 51035 broad.mit.edu 37 11 62445472 62445472 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:62445472G>A uc001nul.1 - 5 541 c.409C>T c.(409-411)CGG>TGG p.R137W UBXN1_uc001nuj.2_Missense_Mutation_p.R137W|UBXN1_uc001num.1_Missense_Mutation_p.R137W|UBXN1_uc001nuk.2_Missense_Mutation_p.R102W|UBXN1_uc010rme.1_Missense_Mutation_p.R137W|UBXN1_uc010rmf.1_3'UTR NM_015853 NP_056937 Q04323 UBXN1_HUMAN UBX domain protein 1 137 Potential.|Interaction with BRCA1. negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process cytoplasm ATPase binding|K6-linked polyubiquitin binding 0 TCCTGTAGCCGCTGTCGTGCT 0.607000 FERMT3 83706 broad.mit.edu 37 11 63978840 63978840 + Missense_Mutation SNP C C T rs78534353 byFrequency TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:63978840C>T uc001nyl.2 + 5 757 c.608C>T c.(607-609)CCG>CTG p.P203L FERMT3_uc001nym.2_Missense_Mutation_p.P203L NM_178443 NP_848537 Q86UX7 URP2_HUMAN fermitin family homolog 3 long form 203 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding ovary(1) 1 CGGCCCCAGCCGCCACCCGAC 0.692000 CDC42BPG 55561 broad.mit.edu 37 11 64597428 64597428 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:64597428G>T uc001obs.3 - 30 3482 c.3482C>A c.(3481-3483)GCG>GAG p.A1161E NM_017525 NP_059995 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1161 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(3)|central_nervous_system(1) 4 CTCCAGCTCCGCCAGGGCAAA 0.687000 PANX1 24145 broad.mit.edu 37 11 93913992 93913992 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:93913992G>C uc001per.2 + 5 1623 c.1238G>C c.(1237-1239)GGA>GCA p.G413A PANX1_uc001peq.2_Missense_Mutation_p.G409A NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 413 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GCAAATAATGGAGAGAAGAAT 0.348000 PANX1 24145 broad.mit.edu 37 11 93913996 93913996 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:93913996G>A uc001per.2 + 5 1627 c.1242G>A c.(1240-1242)GAG>GAA p.E414E PANX1_uc001peq.2_Silent_p.E410E NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 414 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) ATAATGGAGAGAAGAATGCCC 0.348000 PANX1 24145 broad.mit.edu 37 11 93914021 93914021 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:93914021G>A uc001per.2 + 5 1652 c.1267G>A c.(1267-1269)GAT>AAT p.D423N PANX1_uc001peq.2_Missense_Mutation_p.D419N NM_015368 NP_056183 Q96RD7 PANX1_HUMAN pannexin 1 423 Cytoplasmic (Potential). positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding 0 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGACTTCTGGATTCTTCTTG 0.378000 MLL 4297 broad.mit.edu 37 11 118375821 118375821 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:118375821C>T uc001pta.2 + 27 9228 c.9205C>T c.(9205-9207)CCC>TCC p.P3069S MLL_uc001ptb.2_Missense_Mutation_p.P3072S NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3069 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GACCACTCCACCCCACCTGAA 0.478000 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL USP2 9099 broad.mit.edu 37 11 119243994 119243994 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:119243994T>C uc001pwm.3 - 2 492 c.197A>G c.(196-198)TAT>TGT p.Y66C USP2_uc001pwn.3_Intron NM_004205 NP_004196 O75604 UBP2_HUMAN ubiquitin specific peptidase 2 isoform a 66 Necessary for interaction with MDM4. cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process nucleus|perinuclear region of cytoplasm cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity ovary(2)|urinary_tract(1)|skin(1) 4 all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889) GGAGGGGCCATAGGTACGGGG 0.637000 ERC1 23085 broad.mit.edu 37 12 1553865 1553865 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:1553865C>T uc001qjb.2 + 18 3403 c.3162C>T c.(3160-3162)GAC>GAT p.D1054D ERC1_uc001qiz.2_RNA|ERC1_uc001qjc.2_Silent_p.D1026D|ERC1_uc001qja.2_RNA|ERC1_uc001qjd.2_RNA|ERC1_uc001qjf.2_Silent_p.D1054D|ERC1_uc010sdv.1_3'UTR|ERC1_uc001qje.2_RNA NM_178040 NP_829884 Q8IUD2 RB6I2_HUMAN RAB6-interacting protein 2 isoform epsilon 1054 FIP-RBD. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding ovary(2)|lung(2)|breast(1) 5 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) ATAACTTGGACGATGACCAGG 0.522000 KCNA5 3741 broad.mit.edu 37 12 5153796 5153796 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:5153796C>T uc001qni.2 + 1 712 c.483C>T c.(481-483)AAC>AAT p.N161N NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 161 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 CCCTGAGGAACGAGTACTTCT 0.667000 CLEC12A 160364 broad.mit.edu 37 12 10134661 10134661 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:10134661G>C uc001qwr.3 + 5 762 c.574G>C c.(574-576)GGA>CGA p.G192R CLEC12A_uc001qwq.2_Missense_Mutation_p.G202R|CLEC12A_uc001qws.3_Missense_Mutation_p.G159R|CLEC12A_uc001qwt.2_Missense_Mutation_p.G121R NM_138337 NP_612210 Q5QGZ9 CL12A_HUMAN myeloid inhibitory C-type lectin-like receptor 192 Extracellular (Potential).|C-type lectin. integral to membrane|plasma membrane receptor activity|sugar binding skin(1) 1 CTATTGGCTGGGATTATCTCC 0.348000 SLCO1B1 10599 broad.mit.edu 37 12 21355482 21355482 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:21355482A>C uc001req.3 + 10 1297 c.1193A>C c.(1192-1194)AAA>ACA p.K398T NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 398 Cytoplasmic (Potential). bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TATATCATTAAAAAATTCAAA 0.294000 RECQL 5965 broad.mit.edu 37 12 21623974 21623974 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:21623974C>T uc001rex.2 - 15 2074 c.1726G>A c.(1726-1728)GCT>ACT p.A576T RECQL_uc001rey.2_Missense_Mutation_p.A576T|PYROXD1_uc001rew.2_3'UTR|PYROXD1_uc009ziq.2_3'UTR|PYROXD1_uc009zir.2_3'UTR NM_032941 NP_116559 P46063 RECQ1_HUMAN RecQ protein-like 576 DNA recombination|DNA repair|DNA replication nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding ovary(1)|lung(1) 2 AGAAGATTAGCTTTAGGTCCT 0.353000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function ABCD2 225 broad.mit.edu 37 12 39994380 39994380 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:39994380G>A uc001rmb.2 - 6 2065 c.1639C>T c.(1639-1641)CCA>TCA p.P547S NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 547 ABC transporter. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 TACCTTTGTGGAATATAAAAC 0.353000 LRRK2 120892 broad.mit.edu 37 12 40692268 40692268 + Missense_Mutation SNP A A T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:40692268A>T uc001rmg.3 + 24 3441 c.3320A>T c.(3319-3321)GAG>GTG p.E1107V LRRK2_uc001rmh.1_Missense_Mutation_p.E729V|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1107 activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) GATGTGGTAGAGAAACTGGAG 0.368000 SLC39A5 283375 broad.mit.edu 37 12 56630725 56630725 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:56630725C>T uc010sqj.1 + 11 1475 c.1218C>T c.(1216-1218)TTC>TTT p.F406F SLC39A5_uc010sqk.1_Silent_p.F406F NM_173596 NP_775867 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (metal ion 406 Cytoplasmic (Potential). zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity ovary(1)|skin(1) 2 GTGCTGCCTTCTCTGATGGCT 0.602000 CNOT2 4848 broad.mit.edu 37 12 70732502 70732502 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:70732502C>T uc001svv.2 + 11 1657 c.1078C>T c.(1078-1080)CTG>TTG p.L360L CNOT2_uc009zro.2_Silent_p.L360L|CNOT2_uc009zrp.2_Silent_p.L340L|CNOT2_uc009zrq.2_Silent_p.L360L|CNOT2_uc001svw.1_Silent_p.L100L NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 360 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter cytosol|nucleus protein binding|RNA polymerase II transcription cofactor activity 0 Renal(347;0.236) GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118) AATGATTGGCCTGTTAACATT 0.423000 FAM71C 196472 broad.mit.edu 37 12 100043097 100043097 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:100043097A>C uc001tgn.2 + 2 1069 c.647A>C c.(646-648)GAG>GCG p.E216A ANKS1B_uc001tge.1_Intron|ANKS1B_uc001tgf.1_Intron|ANKS1B_uc009ztt.1_Intron NM_153364 NP_699195 Q8NEG0 FA71C_HUMAN hypothetical protein LOC196472 216 0 OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19) GAAGAGAAGGAGCAATTCAGA 0.393000 MYO1H 283446 broad.mit.edu 37 12 109877497 109877497 + Translation_Start_Site SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:109877497G>A uc010sxo.1 + 1 156 c.-119G>A c.(-121--117)TCGTG>TCATG MYO1H_uc010sxn.1_Missense_Mutation_p.V770M Q8N1T3 MYO1H_HUMAN SubName: Full=cDNA FLJ54829, moderately similar to Myosin Ic; SubName: Full=Myosin IH, isoform CRA_a; myosin complex motor activity 0 GGAATTTATCGTGTTTGTGCG 0.428000 MED13L 23389 broad.mit.edu 37 12 116453041 116453041 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:116453041C>T uc001tvw.2 - 8 1103 c.1048G>A c.(1048-1050)GTT>ATT p.V350I NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 350 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) TCTTGGGAAACCAGGTGACTG 0.448000 DNAH10 196385 broad.mit.edu 37 12 124343737 124343737 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:124343737G>A uc001uft.3 + 37 6342 c.6317G>A c.(6316-6318)CGC>CAC p.R2106H NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 2106 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ATGTTAACCCGCCACACGACG 0.502000 GLT1D1 144423 broad.mit.edu 37 12 129442113 129442113 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:129442113A>G uc010tbh.1 + 12 828 c.819A>G c.(817-819)GTA>GTG p.V273V GLT1D1_uc001uhx.1_Silent_p.V188V|GLT1D1_uc001uhy.1_RNA NM_144669 NP_653270 Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 268 biosynthetic process extracellular region transferase activity, transferring glycosyl groups 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) AAGTACCGGTATTGGCCAGGA 0.527000 STX2 2054 broad.mit.edu 37 12 131283094 131283094 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr12:131283094G>C uc001uio.2 - 9 929 c.762C>G c.(760-762)ATC>ATG p.I254M STX2_uc001uip.2_Missense_Mutation_p.I254M|STX2_uc010tbj.1_Missense_Mutation_p.I254M NM_194356 NP_919337 P32856 STX2_HUMAN syntaxin 2 isoform 2 254 Cytoplasmic (Potential). acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction basolateral plasma membrane|integral to membrane|microsome|soluble fraction calcium-dependent protein binding|SNAP receptor activity 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05) TCTGATATTTGATAGCTTTTT 0.348000 NBEA 26960 broad.mit.edu 37 13 36006473 36006473 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr13:36006473C>T uc001uvb.2 + 39 6453 c.6247C>T c.(6247-6249)CGC>TGC p.R2083C NBEA_uc010abi.2_Missense_Mutation_p.R739C NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2083 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACGATTTGTTCGCAATGCATT 0.408000 FREM2 341640 broad.mit.edu 37 13 39262682 39262682 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr13:39262682G>A uc001uwv.2 + 1 1510 c.1201G>A c.(1201-1203)GAC>AAC p.D401N NM_207361 NP_997244 Q5SZK8 FREM2_HUMAN FRAS1-related extracellular matrix protein 2 401 CSPG 1.|Extracellular (Potential). cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(7)|pancreas(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 11 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCCTTCTGAAGACTCTGACCA 0.552000 SALL2 6297 broad.mit.edu 37 14 21992064 21992064 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr14:21992064C>A uc001wbe.2 - 2 2080 c.1798G>T c.(1798-1800)GAC>TAC p.D600Y SALL2_uc010tly.1_Missense_Mutation_p.D598Y|SALL2_uc010tlz.1_Missense_Mutation_p.D463Y|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.D465Y|SALL2_uc001wbg.1_Intron NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 600 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTTGCCGGTCAATCTTTTCT 0.592000 EFS 10278 broad.mit.edu 37 14 23828664 23828664 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr14:23828664T>G uc001wjo.2 - 4 1631 c.1023A>C c.(1021-1023)CCA>CCC p.P341P EFS_uc001wjp.2_Silent_p.P248P|EFS_uc010tnm.1_Silent_p.P172P NM_005864 NP_005855 O43281 EFS_HUMAN embryonal Fyn-associated substrate isoform 1 341 SH3-binding (Potential).|Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding large_intestine(1) 1 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCAGGCGGGGTGGGGGTGGGG 0.697000 FAM179B 23116 broad.mit.edu 37 14 45497516 45497516 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr14:45497516G>T uc001wvv.2 + 10 3851 c.3642G>T c.(3640-3642)GAG>GAT p.E1214D FAM179B_uc001wvw.2_Missense_Mutation_p.E1214D|FAM179B_uc010anc.2_RNA NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 1214 binding skin(2)|upper_aerodigestive_tract(1) 3 CAGGAACTGAGAAAATGGCAT 0.323000 PLEKHG3 26030 broad.mit.edu 37 14 65208577 65208577 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr14:65208577C>T uc001xho.1 + 16 2611 c.2342C>T c.(2341-2343)CCG>CTG p.P781L PLEKHG3_uc001xhn.1_Missense_Mutation_p.P725L|PLEKHG3_uc001xhp.2_Missense_Mutation_p.P902L|PLEKHG3_uc010aqh.1_Missense_Mutation_p.P323L|PLEKHG3_uc001xhq.1_Missense_Mutation_p.P286L NM_015549 NP_056364 A1L390 PKHG3_HUMAN pleckstrin homology domain containing, family G, 781 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity skin(1) 1 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) GGCTCCCGGCCGACTTCGTGG 0.597000 SERPINA9 327657 broad.mit.edu 37 14 94931130 94931130 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr14:94931130G>T uc001ydf.2 - 4 1179 c.1018C>A c.(1018-1020)CTC>ATC p.L340I SERPINA9_uc001yde.2_Missense_Mutation_p.L240I|SERPINA9_uc010avc.2_Missense_Mutation_p.L191I|SERPINA9_uc001ydg.2_Missense_Mutation_p.L304I|SERPINA9_uc001ydh.1_Missense_Mutation_p.L340I|SERPINA9_uc001ydi.1_Missense_Mutation_p.L304I NM_175739 NP_783866 Q86WD7 SPA9_HUMAN serine (or cysteine) proteinase inhibitor, clade 322 regulation of proteolysis cytoplasm|extracellular region|membrane serine-type endopeptidase inhibitor activity lung(1)|central_nervous_system(1) 2 all_cancers(154;0.0691)|all_epithelial(191;0.233) Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24) ATCTTCGGGAGGATGGTTTCC 0.438000 SERINC4 619189 broad.mit.edu 37 15 44089096 44089096 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:44089096C>T uc010bds.1 - 4 623 c.155G>A c.(154-156)TGC>TAC p.C52Y ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.2_Intron|SERINC4_uc001ztc.1_RNA|SERINC4_uc001ztd.1_Intron|SERINC4_uc001zte.1_Missense_Mutation_p.C52Y NM_001033517 NP_001028689 A6NH21 SERC4_HUMAN serine incorporator 4 296 Helical; (Potential). phospholipid biosynthetic process integral to membrane 0 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) GBM - Glioblastoma multiforme(94;7.81e-07) CATGATATAGCAGCTGATGAC 0.488000 CYP19A1 1588 broad.mit.edu 37 15 51503185 51503185 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:51503185C>T uc001zyz.3 - 11 1583 c.1332G>A c.(1330-1332)ATG>ATA p.M444I CYP19A1_uc001zza.3_Missense_Mutation_p.M444I NM_031226 NP_112503 P11511 CP19A_HUMAN cytochrome P450, family 19 444 estrogen biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|membrane fraction aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity skin(3) 3 all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128) Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624) TCATCATCACCATGGCGATGT 0.458000 PARP16 54956 broad.mit.edu 37 15 65553347 65553347 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:65553347G>A uc002aoo.2 - 5 963 c.709C>T c.(709-711)CGC>TGC p.R237C PARP16_uc002aop.2_Missense_Mutation_p.R122C|PARP16_uc002aoq.2_Missense_Mutation_p.R237C NM_017851 NP_060321 Q8N5Y8 PAR16_HUMAN poly (ADP-ribose) polymerase family, member 16 237 PARP catalytic. integral to membrane NAD+ ADP-ribosyltransferase activity lung(2) 2 GCTCGTCTGCGATCTATCTCC 0.453000 LARP6 55323 broad.mit.edu 37 15 71128781 71128781 + Silent SNP C C T rs150115251 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:71128781C>T uc002ass.2 - 2 335 c.264G>A c.(262-264)CCG>CCA p.P88P NM_018357 NP_060827 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 88 HTH La-type RNA-binding. RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 ACTCCTCATCCGGGGGCTTCC 0.493000 PARP6 56965 broad.mit.edu 37 15 72551962 72551962 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:72551962C>G uc002auc.2 - 10 1256 c.797G>C c.(796-798)GGA>GCA p.G266A PARP6_uc002aua.2_Missense_Mutation_p.G111A|PARP6_uc002aub.2_RNA|PARP6_uc002aud.3_RNA|PARP6_uc002auf.1_Missense_Mutation_p.G266A NM_020214 NP_064599 Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 266 NAD+ ADP-ribosyltransferase activity 0 AACGAGGAATCCATACTCCAG 0.498000 PML 5371 broad.mit.edu 37 15 74317252 74317252 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:74317252C>T uc002awv.2 + 4 1378 c.1238C>T c.(1237-1239)CCT>CTT p.P413L PML_uc002awm.2_Missense_Mutation_p.P413L|PML_uc002awl.2_Missense_Mutation_p.P413L|PML_uc002awj.1_Missense_Mutation_p.P413L|PML_uc002awk.2_Missense_Mutation_p.P413L|PML_uc002awn.2_Missense_Mutation_p.P413L|PML_uc002awo.2_Missense_Mutation_p.P413L|PML_uc002awp.2_Missense_Mutation_p.P413L|PML_uc002awq.2_Missense_Mutation_p.P413L|PML_uc002awr.2_Missense_Mutation_p.P413L|PML_uc002aws.2_Missense_Mutation_p.P413L|PML_uc002awt.2_Missense_Mutation_p.P413L|PML_uc002awu.2_Missense_Mutation_p.P413L|PML_uc010ule.1_Intron|PML_uc002aww.1_Missense_Mutation_p.P328L|PML_uc002awx.2_Missense_Mutation_p.P171L|PML_uc002awy.2_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 413 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 CCCAGGGACCCTATTGACGTT 0.577000 T RARA|PAX5 APL|ALL CSPG4 1464 broad.mit.edu 37 15 75981657 75981657 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:75981657C>T uc002baw.2 - 3 1842 c.1749G>A c.(1747-1749)CCG>CCA p.P583P NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 583 Extracellular (Potential).|CSPG 2.|Globular or compact configuration stabilized by disulfide bonds.|Interaction with COL6A2 (By similarity).|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 AGGCAGAGTCCGGGTCATAGG 0.642000 PCSK6 5046 broad.mit.edu 37 15 101938652 101938652 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr15:101938652G>A uc002bwy.2 - 8 1267 c.953C>T c.(952-954)CCC>CTC p.P318L PCSK6_uc010bpd.2_Missense_Mutation_p.P188L|PCSK6_uc010bpe.2_Missense_Mutation_p.P318L|PCSK6_uc002bxa.2_Missense_Mutation_p.P318L|PCSK6_uc002bxb.2_Missense_Mutation_p.P318L|PCSK6_uc002bxc.1_Missense_Mutation_p.P318L|PCSK6_uc002bxd.1_Missense_Mutation_p.P318L|PCSK6_uc002bxe.2_Missense_Mutation_p.P318L|PCSK6_uc002bxg.1_Missense_Mutation_p.P318L NM_002570 NP_002561 P29122 PCSK6_HUMAN paired basic amino acid cleaving system 4 318 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity pancreas(2) 2 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGTCGGCCGGGCCCGTCCAC 0.577000 CLUAP1 23059 broad.mit.edu 37 16 3586166 3586166 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr16:3586166C>T uc002cvk.1 + 12 1242 c.1137C>T c.(1135-1137)GAC>GAT p.D379D CLUAP1_uc002cvj.1_3'UTR|CLUAP1_uc002cvl.1_Silent_p.D398D|CLUAP1_uc002cvm.1_Silent_p.D213D|uc002cvn.1_5'Flank NM_015041 NP_055856 Q96AJ1 CLUA1_HUMAN clusterin associated protein 1 isoform 1 379 Asp-rich. nucleus protein binding ovary(1)|breast(1)|pancreas(1) 3 ATGATGATGACGAGGATGACG 0.483000 SULT1A1 6817 broad.mit.edu 37 16 28619682 28619682 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr16:28619682G>C uc002dqi.2 - 3 775 c.302C>G c.(301-303)GCC>GGC p.A101G uc010vct.1_Intron|SULT1A1_uc002dqj.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqk.2_Missense_Mutation_p.A101G|SULT1A1_uc002dql.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqm.2_Intron|SULT1A1_uc002dqn.2_Missense_Mutation_p.A192G|SULT1A1_uc002dqo.2_Missense_Mutation_p.A101G|SULT1A1_uc002dqp.2_Missense_Mutation_p.A101G NM_177534 NP_803878 P50225 ST1A1_HUMAN sulfotransferase family, cytosolic, 1A, 101 3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 GAGTCGTGGGGCCGGTGTGTC 0.527000 SLC6A2 6530 broad.mit.edu 37 16 55729245 55729245 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr16:55729245G>A uc002eif.2 + 8 1189 c.1078G>A c.(1078-1080)GCC>ACC p.A360T SLC6A2_uc010ccd.2_Missense_Mutation_p.A360T|SLC6A2_uc002eig.2_Missense_Mutation_p.A360T|SLC6A2_uc002eih.2_Missense_Mutation_p.A360T|SLC6A2_uc002eii.2_Missense_Mutation_p.A255T|SLC6A2_uc002eij.2_Missense_Mutation_p.A74T NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 360 Helical; Name=7; (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) CTCTGGGTTCGCCATCTTCTC 0.577000 TAF1C 9013 broad.mit.edu 37 16 84218553 84218553 + Silent SNP G G A rs141321804 by1000genomes TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr16:84218553G>A uc002fhn.2 - 2 270 c.42C>T c.(40-42)ACC>ACT p.T14T TAF1C_uc002fhm.2_Intron|TAF1C_uc010vnx.1_Silent_p.T14T|TAF1C_uc010vny.1_Intron|TAF1C_uc010vnz.1_Intron|TAF1C_uc002fho.2_Intron|TAF1C_uc010voa.1_Intron|TAF1C_uc002fhp.1_RNA|TAF1C_uc010vob.1_Silent_p.T14T NM_005679 NP_005670 Q15572 TAF1C_HUMAN TBP-associated factor 1C isoform 1 14 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding ovary(1) 1 CAAGGGGGCCGGTCAGAAACA 0.607000 MTHFSD 64779 broad.mit.edu 37 16 86565700 86565700 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr16:86565700G>T uc002fjn.2 - 8 1120 c.1069C>A c.(1069-1071)CAG>AAG p.Q357K MTHFSD_uc010voo.1_Missense_Mutation_p.Q337K|MTHFSD_uc002fjo.2_Missense_Mutation_p.Q194K|MTHFSD_uc002fjm.2_Missense_Mutation_p.Q356K|MTHFSD_uc010vop.1_Missense_Mutation_p.Q194K|MTHFSD_uc010voq.1_Missense_Mutation_p.Q356K|MTHFSD_uc010vor.1_Missense_Mutation_p.Q357K NM_001159377 NP_001152849 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain 357 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding 0 GAGACGGCCTGCTGGGCTGCG 0.716000 TP53 7157 broad.mit.edu 37 17 7577556 7577556 + Missense_Mutation SNP C C G rs121912655 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:7577556C>G uc002gim.2 - 7 919 c.725G>C c.(724-726)TGC>TCC p.C242S TP53_uc002gig.1_Missense_Mutation_p.C242S|TP53_uc002gih.2_Missense_Mutation_p.C242S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C110S|TP53_uc010cng.1_Missense_Mutation_p.C110S|TP53_uc002gii.1_Missense_Mutation_p.C110S|TP53_uc010cnh.1_Missense_Mutation_p.C242S|TP53_uc010cni.1_Missense_Mutation_p.C242S|TP53_uc002gij.2_Missense_Mutation_p.C242S|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C149S|TP53_uc002gio.2_Missense_Mutation_p.C110S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 242 |Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity). Zinc. C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C242F(63)|p.C242Y(37)|p.C242S(25)|p.C242fs*5(16)|p.C242R(11)|p.C242W(7)|p.0?(7)|p.N239_C242delNSSC(3)|p.C242*(3)|p.C242C(2)|p.C242G(2)|p.C242fs*20(1)|p.C242fs*23(1)|p.Y236_M243delYMCNSSCM(1)|p.C242_M246>L(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.C242fs*98(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241_G245delSCMGG(1)|p.N239_C242del(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) GCCGCCCATGCAGGAACTGTT 0.577000 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) EFNB3 1949 broad.mit.edu 37 17 7611542 7611542 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:7611542G>A uc002gis.2 + 2 786 c.389G>A c.(388-390)CGC>CAC p.R130H NM_001406 NP_001397 Q15768 EFNB3_HUMAN ephrin-B3 precursor 130 Extracellular (Potential). cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity ovary(1) 1 all_cancers(10;1.14e-06)|Prostate(122;0.081) CACGAGTTCCGCTCGCACCAC 0.582000 ATAD5 79915 broad.mit.edu 37 17 29196362 29196362 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:29196362G>A uc002hfs.1 + 13 3756 c.3410G>A c.(3409-3411)GGA>GAA p.G1137E ATAD5_uc002hft.1_Missense_Mutation_p.G1034E NM_024857 NP_079133 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1137 ATP (Potential). response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity ovary(3) 3 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) ACAGGAGTGGGAAAAACTGCT 0.413000 CCT6B 10693 broad.mit.edu 37 17 33286636 33286636 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:33286636G>A uc002hig.2 - 2 265 c.171C>T c.(169-171)ACC>ACT p.T57T CCT6B_uc010ctg.2_Silent_p.T57T|CCT6B_uc010wcc.1_Silent_p.T57T|ZNF830_uc002hih.3_5'Flank NM_006584 NP_006575 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B 57 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding pancreas(1) 1 Ovarian(249;0.17) TGCCATCTTTGGTGAGTTTGA 0.413000 KRTAP4-1 85285 broad.mit.edu 37 17 39341075 39341075 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:39341075G>T uc002hwe.3 - 1 73 c.32C>A c.(31-33)TCT>TAT p.S11Y KRTAP4-1_uc010cxm.1_RNA NM_033060 NP_149049 Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 11 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) GCCCTGGTCAGAGCAGACAGA 0.552000 HOXB5 3215 broad.mit.edu 37 17 46670652 46670652 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:46670652G>A uc002inr.2 - 1 452 c.393C>T c.(391-393)ACC>ACT p.T131T NM_002147 NP_002138 P09067 HXB5_HUMAN homeobox B5 131 nucleus sequence-specific DNA binding 0 CGTCTATTTCGGTGAAATTGG 0.677000 CLTC 1213 broad.mit.edu 37 17 57737878 57737878 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:57737878C>T uc002ixq.1 + 7 1539 c.1096C>T c.(1096-1098)CGG>TGG p.R366W CLTC_uc002ixp.2_Missense_Mutation_p.R366W|CLTC_uc002ixr.1_Missense_Mutation_p.R370W NM_004859 NP_004850 Q00610 CLH1_HUMAN clathrin heavy chain 1 366 Globular terminal domain. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) haematopoietic_and_lymphoid_tissue(33)|soft_tissue(11)|kidney(2)|ovary(1)|breast(1) 48 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) ACTCTTTGCCCGGAAATTTAA 0.408000 T ALK|TFE3 ALCL|renal CCDC40 55036 broad.mit.edu 37 17 78039385 78039385 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr17:78039385G>T uc010dht.2 + 10 1569 c.1542G>T c.(1540-1542)AGG>AGT p.R514S CCDC40_uc010wub.1_Intron|CCDC40_uc002jxm.3_Missense_Mutation_p.R297S NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 514 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGCGCACAGGGCGGTGCTGG 0.687000 TMEM200C 645369 broad.mit.edu 37 18 5890542 5890542 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr18:5890542C>T uc002kmx.1 - 1 1562 c.1521G>A c.(1519-1521)TCG>TCA p.S507S NM_001080209 NP_001073678 A6NKL6 T200C_HUMAN transmembrane protein 200C 507 Pro-rich. integral to membrane 0 GCAGGGGTGGCGAGGGGGAGG 0.756000 ZNF521 25925 broad.mit.edu 37 18 22807024 22807024 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr18:22807024G>A uc002kvk.2 - 4 1105 c.858C>T c.(856-858)TGC>TGT p.C286C ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Silent_p.C286C|ZNF521_uc002kvl.2_Silent_p.C66C NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 286 C2H2-type 7. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGAGCTCGTGGCAGTAGACAC 0.542000 T PAX5 ALL DSG3 1830 broad.mit.edu 37 18 29039945 29039945 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr18:29039945C>T uc002kws.2 + 6 764 c.655C>T c.(655-657)CGT>TGT p.R219C NM_001944 NP_001935 P32926 DSG3_HUMAN desmoglein 3 preproprotein 219 Extracellular (Potential).|Cadherin 2. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding skin(4)|ovary(3)|lung(1)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TGGGGAAGTCCGTACTTTGAC 0.433000 MALT1 10892 broad.mit.edu 37 18 56348528 56348528 + Silent SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr18:56348528T>C uc002lhm.1 + 2 594 c.336T>C c.(334-336)GCT>GCC p.A112A MALT1_uc002lhn.1_Silent_p.A112A NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 112 Death. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 TCCTGCAGGCTATGGAACACA 0.458000 T BIRC3 MALT SERPINB7 8710 broad.mit.edu 37 18 61468239 61468239 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr18:61468239T>C uc002ljl.2 + 7 833 c.737T>C c.(736-738)CTC>CCC p.L246P SERPINB7_uc002ljm.2_Missense_Mutation_p.L246P|SERPINB7_uc010xet.1_Missense_Mutation_p.L229P|SERPINB7_uc010dqg.2_Missense_Mutation_p.L246P NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 246 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) GAGAATGACCTCTCTGAAGTA 0.373000 FBN3 84467 broad.mit.edu 37 19 8155087 8155087 + Nonsense_Mutation SNP G G T rs79073744 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr19:8155087G>T uc002mjf.2 - 48 6101 c.6080C>A c.(6079-6081)TCG>TAG p.S2027* FBN3_uc002mje.2_5'Flank NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 2027 TB 8. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 TTTGGGCACCGAGCACTTCCC 0.622000 SPAST 6683 broad.mit.edu 37 2 32289152 32289152 + Silent SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:32289152C>G uc002roc.2 + 1 473 c.252C>G c.(250-252)CGC>CGG p.R84R SPAST_uc002rod.2_Silent_p.R84R NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 84 Required for interaction with RTN1.|Required for interaction with SSNA1 and microtubules.|Required for midbody localization. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCTTCTCCCGCGCCCTCATGG 0.711000 SPAST 6683 broad.mit.edu 37 2 32362007 32362007 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:32362007A>G uc002roc.2 + 11 1604 c.1383A>G c.(1381-1383)CTA>CTG p.L461L SPAST_uc002rod.2_Silent_p.L429L NM_014946 NP_055761 Q9UBP0 SPAST_HUMAN spastin isoform 1 461 Sufficient for microtubule severing. cell cycle|cell death|cell differentiation|cytokinesis, completion of separation|ER to Golgi vesicle-mediated transport|microtubule bundle formation|microtubule severing|nervous system development|protein hexamerization|protein homooligomerization endoplasmic reticulum|endosome|integral to membrane|microtubule|microtubule organizing center|nucleus|perinuclear region of cytoplasm|spindle alpha-tubulin binding|ATP binding|beta-tubulin binding|microtubule binding|microtubule-severing ATPase activity breast(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GTAGACGCCTAAAAACTGAAT 0.328000 DPP10 57628 broad.mit.edu 37 2 116101431 116101431 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:116101431G>C uc002tla.1 + 3 671 c.214G>C c.(214-216)GAA>CAA p.E72Q DPP10_uc002tlb.1_Missense_Mutation_p.E22Q|DPP10_uc002tlc.1_Missense_Mutation_p.E68Q|DPP10_uc002tle.2_Missense_Mutation_p.E76Q|DPP10_uc002tlf.1_Missense_Mutation_p.E65Q NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 72 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 ATTGTCTTTGGAAGACCTCTT 0.353000 BIN1 274 broad.mit.edu 37 2 127864487 127864487 + Silent SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:127864487C>G uc002tns.1 - 1 378 c.33G>C c.(31-33)GCG>GCC p.A11A BIN1_uc010yzg.1_Silent_p.A11A|BIN1_uc002tnu.1_Silent_p.A11A|BIN1_uc002toa.1_Silent_p.A11A|BIN1_uc002tnt.1_Silent_p.A11A|BIN1_uc002tnv.1_Silent_p.A11A|BIN1_uc002tnw.1_Silent_p.A11A|BIN1_uc002tnx.1_Silent_p.A11A|BIN1_uc002tny.1_Silent_p.A11A|BIN1_uc002tnz.1_Silent_p.A11A|BIN1_uc002tob.1_Silent_p.A11A|BIN1_uc002toc.1_Silent_p.A11A NM_139343 NP_647593 O00499 BIN1_HUMAN bridging integrator 1 isoform 1 11 Interaction with BIN2. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus ovary(2)|central_nervous_system(2)|skin(2)|lung(1) 7 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CGATCTTTCCCGCCGTCACCC 0.726000 GPR17 2840 broad.mit.edu 37 2 128408831 128408831 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:128408831G>T uc010yzn.1 + 4 1217 c.606G>T c.(604-606)CAG>CAT p.Q202H LIMS2_uc002tox.2_Intron|LIMS2_uc010fmb.2_Intron|LIMS2_uc002toy.2_Intron|LIMS2_uc010yzm.1_Intron|LIMS2_uc002tpa.2_Intron|LIMS2_uc002toz.2_Intron|LIMS2_uc002tpb.2_Intron|GPR17_uc002tpc.2_Missense_Mutation_p.Q202H|GPR17_uc010yzo.1_Missense_Mutation_p.Q174H|GPR17_uc002tpd.2_Missense_Mutation_p.Q174H NM_001161415 NP_001154887 Q13304 GPR17_HUMAN G protein-coupled receptor 17 isoform a 202 Extracellular (Potential). integral to plasma membrane chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 Colorectal(110;0.1) Ovarian(717;0.15) BRCA - Breast invasive adenocarcinoma(221;0.0677) AGACCGTGCAGACCAACCACA 0.662000 NCKAP5 344148 broad.mit.edu 37 2 133540880 133540880 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:133540880C>T uc002ttp.2 - 14 3878 c.3504G>A c.(3502-3504)GGG>GGA p.G1168G NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1168 protein binding 0 TTTCATGTTTCCCTGGCACGG 0.478000 NCKAP5 344148 broad.mit.edu 37 2 133547605 133547605 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:133547605G>A uc002ttp.2 - 13 1457 c.1083C>T c.(1081-1083)CTC>CTT p.L361L NCKAP5_uc002ttq.2_Silent_p.L361L NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 361 Ser-rich. protein binding 0 CCCTTTTCCTGAGGTTCTTCC 0.522000 NEB 4703 broad.mit.edu 37 2 152369283 152369283 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:152369283G>A uc010fnx.2 - 133 18398 c.18207C>T c.(18205-18207)ATC>ATT p.I6069I NEB_uc002txr.2_Silent_p.I2492I|NEB_uc002txt.3_Silent_p.I574I NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 6069 Nebulin 166. muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GGGCATGAATGATCTCTGGAG 0.398000 TTN 7273 broad.mit.edu 37 2 179600641 179600641 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:179600641G>A uc010zfg.1 - 47 11024 c.10800C>T c.(10798-10800)TCC>TCT p.S3600S TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Silent_p.S261S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4527 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) TTTCTGCGTCGGAAATCCTCC 0.438000 MARS2 92935 broad.mit.edu 37 2 198570228 198570228 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:198570228C>T uc002uuq.2 + 1 142 c.99C>T c.(97-99)TCC>TCT p.S33S uc002uup.2_Intron NM_138395 NP_612404 Q96GW9 SYMM_HUMAN methionine-tRNA synthetase 2 precursor 33 methionyl-tRNA aminoacylation mitochondrial matrix ATP binding|methionine-tRNA ligase activity ovary(1)|central_nervous_system(1)|skin(1) 3 L-Methionine(DB00134) GTTCGGGCTCCCTCAGTGCCG 0.627000 AGAP1 116987 broad.mit.edu 37 2 236949436 236949436 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr2:236949436G>A uc002vvs.2 + 15 2437 c.1842G>A c.(1840-1842)TCG>TCA p.S614S AGAP1_uc002vvt.2_Silent_p.S561S NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN centaurin, gamma 2 isoform 1 614 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding ovary(2)|skin(1) 3 CCCTGCAGTCGATCCGGAACA 0.622000 RBCK1 10616 broad.mit.edu 37 20 407987 407987 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:407987C>A uc002wdp.3 + 9 1753 c.1060C>A c.(1060-1062)CTA>ATA p.L354I RBCK1_uc010zpm.1_RNA|RBCK1_uc002wdq.3_Missense_Mutation_p.L312I|RBCK1_uc010fzy.2_RNA|RBCK1_uc002wdr.3_Missense_Mutation_p.L184I NM_031229 NP_112506 Q9BYM8 HOIL1_HUMAN RanBP-type and C3HC4-type zinc finger containing 354 interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway LUBAC complex protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding 0 all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231) CCAGCGATTTCTAGACCTGGG 0.498000 PLCB1 23236 broad.mit.edu 37 20 8696959 8696959 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:8696959G>A uc002wnb.2 + 13 1302 c.1299G>A c.(1297-1299)GGG>GGA p.G433G PLCB1_uc010zrb.1_Silent_p.G332G|PLCB1_uc002wna.2_Silent_p.G433G|PLCB1_uc002wnc.1_Silent_p.G332G|PLCB1_uc002wnd.1_Silent_p.G10G NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN phosphoinositide-specific phospholipase C beta 1 433 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1) 12 TGATCTTTGGGGATGCCCTTC 0.463000 TMEM90B 79953 broad.mit.edu 37 20 24565546 24565546 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:24565546C>T uc002wtw.1 + 3 1168 c.535C>T c.(535-537)CGG>TGG p.R179W NM_024893 NP_079169 Q9H7V2 SYNG1_HUMAN transmembrane protein 90B 179 Cytoplasmic (Potential). response to biotic stimulus early endosome membrane|integral to membrane|plasma membrane 0 GATGCCCCCGCGGGACCACCT 0.552000 TTLL9 164395 broad.mit.edu 37 20 30486296 30486296 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:30486296G>A uc010gdx.1 + 4 387 c.134G>A c.(133-135)CGG>CAG p.R45Q TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.P54P|TTLL9_uc010ztp.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 45 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCATCGATCCGGTTCAAGACC 0.527000 KIAA0406 9675 broad.mit.edu 37 20 36641604 36641604 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:36641604C>A uc002xhl.2 - 3 824 c.615G>T c.(613-615)TTG>TTT p.L205F KIAA0406_uc002xhm.2_Missense_Mutation_p.L205F NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 205 binding p.L205F(1) 0 Myeloproliferative disorder(115;0.00874) AAGAGGCAAACAAATCCCCCA 0.428000 WISP2 8839 broad.mit.edu 37 20 43344038 43344038 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:43344038G>A uc002xmn.2 + 2 360 c.7G>A c.(7-9)GGC>AGC p.G3S uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmo.1_Missense_Mutation_p.G3S|WISP2_uc002xmp.2_Missense_Mutation_p.G3S|WISP2_uc002xmq.2_Missense_Mutation_p.G3S NM_003881 NP_003872 O76076 WISP2_HUMAN WNT1 inducible signaling pathway protein 2 3 cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) GGACATGAGAGGCACACCGAA 0.567000 KCNS1 3787 broad.mit.edu 37 20 43726377 43726377 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:43726377G>C uc002xnc.2 - 4 1433 c.1036C>G c.(1036-1038)CTC>GTC p.L346V KCNS1_uc002xnd.2_Missense_Mutation_p.L346V NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN potassium voltage-gated channel 346 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding 0 Myeloproliferative disorder(115;0.0122) ATGCGCATGAGGCGGAACACC 0.657000 BCAS4 55653 broad.mit.edu 37 20 49458427 49458427 + Missense_Mutation SNP C C T rs2145693 byFrequency TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:49458427C>T uc002xvq.2 + 4 543 c.479C>T c.(478-480)TCC>TTC p.S160F BCAS4_uc002xvr.2_Missense_Mutation_p.S160F|BCAS4_uc002xvs.2_Intron NM_017843 NP_060313 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 isoform a 160 cytoplasm 0 GGGCTCCCCTCCTTCAGGAAC 0.672000 TSHZ2 128553 broad.mit.edu 37 20 51871044 51871044 + Silent SNP C C T rs61758128 byFrequency TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:51871044C>T uc002xwo.2 + 2 2003 c.1047C>T c.(1045-1047)AAC>AAT p.N349N NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 349 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) CTCAGAAGAACGCCAACTTGC 0.498000 RAB22A 57403 broad.mit.edu 37 20 56928380 56928380 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr20:56928380G>A uc002xyz.2 + 4 512 c.250G>A c.(250-252)GTT>ATT p.V84I NM_020673 NP_065724 Q9UL26 RB22A_HUMAN RAS-related protein RAB-22A 84 endocytosis|endosome organization|protein transport|small GTPase mediated signal transduction early endosome|endosome membrane|plasma membrane GTP binding|GTPase activity|protein binding 0 all_epithelial(3;5.09e-14)|Lung NSC(12;0.000122)|all_lung(29;0.00042) BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;4.73e-08)|all cancers(14;4.83e-07) AGCTATAATCGTTTATGATAT 0.363000 NCAM2 4685 broad.mit.edu 37 21 22656600 22656600 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr21:22656600G>T uc002yld.1 + 3 466 c.217G>T c.(217-219)GGT>TGT p.G73C NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.G98C NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 73 Ig-like C2-type 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) GCAAAAGGAAGGTGTTAGGTC 0.408000 KRTAP19-6 337973 broad.mit.edu 37 21 31914074 31914074 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr21:31914074A>C uc002yok.1 - 1 108 c.79T>G c.(79-81)TGT>GGT p.C27G NM_181612 NP_853643 Q3LI70 KR196_HUMAN keratin associated protein 19-6 27 intermediate filament 0 TAGCCTCCACAGCCACAGCCA 0.512000 SYNJ1 8867 broad.mit.edu 37 21 34056362 34056362 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr21:34056362A>C uc002yqh.2 - 10 1303 c.1303T>G c.(1303-1305)TTT>GTT p.F435V SYNJ1_uc011ads.1_Missense_Mutation_p.F396V|SYNJ1_uc002yqf.2_Missense_Mutation_p.F396V|SYNJ1_uc002yqg.2_Missense_Mutation_p.F396V|SYNJ1_uc002yqi.2_Missense_Mutation_p.F435V NM_003895 NP_003886 O43426 SYNJ1_HUMAN synaptojanin 1 isoform a 396 SAC. inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding ovary(4)|skin(1) 5 AAGCCAAGAAATGCCTGCACA 0.318000 PCNT 5116 broad.mit.edu 37 21 47767412 47767412 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr21:47767412G>A uc002zji.3 + 6 1125 c.1018G>A c.(1018-1020)GCC>ACC p.A340T PCNT_uc002zjj.2_Missense_Mutation_p.A222T|PCNT_uc010gqk.1_RNA NM_006031 NP_006022 O95613 PCNT_HUMAN pericentrin 340 Glu-rich.|Potential. cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding ovary(4)|breast(2)|pancreas(2) 8 Breast(49;0.112) GGAGAAAAACGCCCAGATAGT 0.463000 PRAME 23532 broad.mit.edu 37 22 22893347 22893347 + Silent SNP G G A rs139977651 byFrequency TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr22:22893347G>A uc002zwf.2 - 3 342 c.186C>T c.(184-186)GAC>GAT p.D62D LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Silent_p.D46D|PRAME_uc010gtr.2_Silent_p.D62D|PRAME_uc002zwg.2_Silent_p.D62D|PRAME_uc002zwh.2_Silent_p.D62D|PRAME_uc002zwi.2_Silent_p.D62D|PRAME_uc002zwj.2_Silent_p.D62D|PRAME_uc002zwk.2_Silent_p.D62D NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 62 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) TGTGTCTCCCGTCAAAGGCTG 0.622000 CELSR1 9620 broad.mit.edu 37 22 46760030 46760030 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr22:46760030C>T uc003bhw.1 - 34 8898 c.8898G>A c.(8896-8898)ACG>ACA p.T2966T NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN cadherin EGF LAG seven-pass G-type receptor 1 2966 Cytoplasmic (Potential). central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity lung(4)|breast(4)|pancreas(2)|skin(1) 11 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) CCAGGGAAGACGTGCGCGAGG 0.692000 BRD1 23774 broad.mit.edu 37 22 50216701 50216701 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr22:50216701G>T uc003biv.2 - 1 1752 c.1265C>A c.(1264-1266)TCC>TAC p.S422Y BRD1_uc011arf.1_5'UTR|BRD1_uc011arg.1_Missense_Mutation_p.S422Y|BRD1_uc011arh.1_Missense_Mutation_p.S422Y|BRD1_uc003biu.3_Missense_Mutation_p.S422Y NM_014577 NP_055392 O95696 BRD1_HUMAN bromodomain containing protein 1 422 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding pancreas(1) 1 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) CTTGGATGTGGACCTGACCGT 0.552000 SBF1 6305 broad.mit.edu 37 22 50903026 50903026 + Nonsense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr22:50903026G>A uc003blh.2 - 14 1768 c.1573C>T c.(1573-1575)CAG>TAG p.Q525* SBF1_uc011arx.1_Nonsense_Mutation_p.Q189*|SBF1_uc003bli.2_Nonsense_Mutation_p.Q526* NM_002972 NP_002963 O95248 MTMR5_HUMAN SET binding factor 1 525 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) GGTGCACCCTGCATCTTGGCT 0.697000 XCR1 2829 broad.mit.edu 37 3 46062775 46062775 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:46062775C>T uc003cpe.2 - 3 889 c.665G>A c.(664-666)CGC>CAC p.R222H uc003cpd.1_5'Flank|XCR1_uc003cpf.2_Missense_Mutation_p.R222H NM_005283 NP_005274 P46094 XCR1_HUMAN XC chemokine receptor 1 222 Cytoplasmic (Potential). chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CTTGACCGTGCGGTGGCGCCG 0.587000 GRM2 2912 broad.mit.edu 37 3 51749182 51749182 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:51749182C>T uc010hlv.2 + 4 1632 c.1393C>T c.(1393-1395)CGC>TGC p.R465C GRM2_uc003dbo.3_5'UTR|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 465 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) AGGCAGTGGGCGCTATCGCTA 0.612000 FLNB 2317 broad.mit.edu 37 3 58134046 58134046 + Nonsense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:58134046C>T uc003djj.2 + 35 6007 c.5842C>T c.(5842-5844)CGA>TGA p.R1948* FLNB_uc010hne.2_Nonsense_Mutation_p.R1979*|FLNB_uc003djk.2_Nonsense_Mutation_p.R1937*|FLNB_uc010hnf.2_Nonsense_Mutation_p.R1924*|FLNB_uc003djl.2_Nonsense_Mutation_p.R1768*|FLNB_uc003djm.2_Nonsense_Mutation_p.R1755*|FLNB_uc010hng.1_5'Flank NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 1948 Filamin 18.|Interaction with the cytoplasmic tail of GP1BA. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CCCATCTGGCCGAGACGAGCC 0.607000 TMF1 7110 broad.mit.edu 37 3 69101186 69101186 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:69101186A>G uc003dnn.2 - 1 299 c.52T>C c.(52-54)TCC>CCC p.S18P TMF1_uc011bfx.1_Missense_Mutation_p.S18P|hsa-mir-3136|MI0014158_5'Flank NM_007114 NP_009045 P82094 TMF1_HUMAN TATA element modulatory factor 1 18 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity 0 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TGGGCCTGGGACAGGGCCTGC 0.627000 VGLL3 389136 broad.mit.edu 37 3 87018199 87018199 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:87018199C>A uc003dqn.2 - 3 842 c.478G>T c.(478-480)GCA>TCA p.A160S NM_016206 NP_057290 A8MV65 VGLL3_HUMAN colon carcinoma related protein 160 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AAACAAGGTGCAGGTGGGGGC 0.532000 COL8A1 1295 broad.mit.edu 37 3 99513916 99513916 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:99513916G>A uc003dtg.1 + 5 1416 c.1171G>A c.(1171-1173)GAG>AAG p.E391K COL8A1_uc003dth.1_Missense_Mutation_p.E391K|COL8A1_uc003dti.1_Missense_Mutation_p.E392K NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 391 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 TCCTCCAGGAGAGCCAGGCCT 0.612000 ITGB5 3693 broad.mit.edu 37 3 124492671 124492671 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:124492671G>C uc003eho.2 - 11 2079 c.1782C>G c.(1780-1782)TGC>TGG p.C594W ITGB5_uc010hrx.2_RNA|ITGB5_uc003ehp.1_RNA NM_002213 NP_002204 P18084 ITB5_HUMAN integrin, beta 5 precursor 594 IV.|Extracellular (Potential).|Cysteine-rich tandem repeats. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity skin(2) 2 GBM - Glioblastoma multiforme(114;0.163) CTCTGCCCCGGCATGTGCTGA 0.587000 CPNE4 131034 broad.mit.edu 37 3 131404727 131404727 + Nonsense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:131404727G>A uc003eok.2 - 6 1018 c.583C>T c.(583-585)CGA>TGA p.R195* CPNE4_uc011blq.1_Nonsense_Mutation_p.R213*|CPNE4_uc003eol.2_Nonsense_Mutation_p.R213*|CPNE4_uc003eom.2_Nonsense_Mutation_p.R195* NM_130808 NP_570720 Q96A23 CPNE4_HUMAN copine IV 195 C2 2. upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 ACCTCAGTTCGGTGCACCAGC 0.378000 DNAJC13 23317 broad.mit.edu 37 3 132166238 132166238 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:132166238G>A uc003eor.2 + 4 283 c.218G>A c.(217-219)CGT>CAT p.R73H DNAJC13_uc010htq.1_Missense_Mutation_p.R73H NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 73 heat shock protein binding ovary(1)|breast(1) 2 CTCACATTTCGTAAAGGCAGT 0.368000 STAG1 10274 broad.mit.edu 37 3 136117672 136117672 + Splice_Site SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:136117672C>G uc003era.1 - 22 2489 c.2197_splice c.e22-1 p.I733_splice STAG1_uc003erb.1_Splice_Site_p.I733_splice|STAG1_uc003erc.1_Splice_Site_p.I507_splice NM_005862 NP_005853 Q8WVM7 STAG1_HUMAN stromal antigen 1 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(2) 2 GCACGACTATCTGTATCAAAT 0.308000 SLC9A9 285195 broad.mit.edu 37 3 143185988 143185988 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr3:143185988C>T uc003evn.2 - 12 1542 c.1360G>A c.(1360-1362)GAA>AAA p.E454K NM_173653 NP_775924 Q8IVB4 SL9A9_HUMAN solute carrier family 9 (sodium/hydrogen 454 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity ovary(2)|skin(1) 3 GGCTGAGATTCTGTGTTCCGA 0.458000 KIT 3815 broad.mit.edu 37 4 55594074 55594074 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:55594074C>T uc010igr.2 + 12 1947 c.1860C>T c.(1858-1860)GTC>GTT p.V620V KIT_uc010igs.2_Silent_p.V616V|KIT_uc010igt.1_Silent_p.V69V NM_000222 NP_000213 P10721 KIT_HUMAN v-kit Hardy-Zuckerman 4 feline sarcoma viral 620 Protein kinase.|Cytoplasmic (Potential). male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway extracellular space|integral to membrane ATP binding|protein binding|receptor signaling protein tyrosine kinase activity soft_tissue(3273)|haematopoietic_and_lymphoid_tissue(1572)|skin(99)|testis(49)|bone(21)|genital_tract(18)|kidney(17)|ovary(16)|salivary_gland(15)|large_intestine(11)|thymus(6)|lung(6)|central_nervous_system(4)|NS(3)|eye(2)|endometrium(2)|breast(1)|stomach(1)|autonomic_ganglia(1)|pancreas(1) 5118 all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209) Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171) Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCATGACTGTCGCTGTAAAGA 0.458000 1 Mis|O GIST|AML|TGCT|mastocytosis|mucosal melanoma GIST|epithelioma Piebald trait Mast_Cell_disease_Familial_Clustering_of|Piebaldism|Gastrointestinal_Stromal_Tumors_Sporadic_Multiple_Primary|Familial_Gastrointestinal_Stromal_Tumors GPRIN3 285513 broad.mit.edu 37 4 90170778 90170778 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:90170778A>G uc003hsm.1 - 2 1003 c.484T>C c.(484-486)TCA>CCA p.S162P NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 162 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCTCTATTTGAGGTTCTCTGT 0.517000 UNC5C 8633 broad.mit.edu 37 4 96137357 96137357 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:96137357T>C uc003htp.1 - 10 1805 c.1651A>G c.(1651-1653)AGC>GGC p.S551G UNC5C_uc010ilc.1_Missense_Mutation_p.S570G|UNC5C_uc003htq.2_Missense_Mutation_p.S570G NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 551 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ATCAGCAAGCTGACTCCTGAA 0.448000 HHIP 64399 broad.mit.edu 37 4 145568092 145568092 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:145568092C>T uc003ijs.1 + 1 920 c.265C>T c.(265-267)CGC>TGC p.R89C uc003ijq.1_5'Flank|HHIP_uc003ijr.1_Missense_Mutation_p.R89C NM_022475 NP_071920 Q96QV1 HHIP_HUMAN hedgehog-interacting protein precursor 89 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding ovary(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GGGGCTAGGGCGCCTGGAGAA 0.627000 NR3C2 4306 broad.mit.edu 37 4 149075976 149075976 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:149075976T>G uc003ilj.3 - 5 2425 c.2091A>C c.(2089-2091)CCA>CCC p.P697P NR3C2_uc003ilk.3_Intron|NR3C2_uc010iph.2_Intron NM_000901 NP_000892 P08235 MCR_HUMAN nuclear receptor subfamily 3, group C, member 2 697 Hinge. regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor endoplasmic reticulum membrane|nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding large_intestine(1) 1 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0614) Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421) ggggtgggggtgggggtgggg 0.428000 ODZ3 55714 broad.mit.edu 37 4 183600907 183600907 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:183600907C>T uc003ivd.1 + 7 1452 c.1415C>T c.(1414-1416)GCG>GTG p.A472V ODZ3_uc003ive.1_5'Flank NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 472 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGGCGGCAGGCGAGATCCGTC 0.562000 ODZ3 55714 broad.mit.edu 37 4 183721189 183721189 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:183721189C>T uc003ivd.1 + 27 7822 c.7785C>T c.(7783-7785)GAC>GAT p.D2595D NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 2595 Extracellular (Potential). signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GGTTCGCGGACGTGGAGATGC 0.697000 TRIML1 339976 broad.mit.edu 37 4 189068199 189068199 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr4:189068199C>G uc003izm.1 + 6 1195 c.1080C>G c.(1078-1080)GAC>GAG p.D360E TRIML1_uc003izn.1_Missense_Mutation_p.D84E NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 360 B30.2/SPRY. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TCTGCAAGGACTCTGTGAGCA 0.537000 CDH12 1010 broad.mit.edu 37 5 21751951 21751951 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:21751951T>G uc010iuc.2 - 12 2738 c.2280A>C c.(2278-2280)GAA>GAC p.E760D CDH12_uc011cno.1_Missense_Mutation_p.E720D|CDH12_uc003jgk.2_Missense_Mutation_p.E760D|uc003jgj.2_Intron NM_004061 NP_004052 P55289 CAD12_HUMAN cadherin 12, type 2 preproprotein 760 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 CCTGGTCGGCTTCTGTGGTGA 0.512000 HNSCC(59;0.17) CDH10 1008 broad.mit.edu 37 5 24488107 24488107 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:24488107G>T uc003jgr.1 - 12 2364 c.2032C>A c.(2032-2034)CCT>ACT p.P678T CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 678 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) ATGGCTGCAGGATTCCTCAGG 0.483000 HNSCC(23;0.051) CDH9 1007 broad.mit.edu 37 5 26886139 26886139 + Missense_Mutation SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:26886139T>G uc003jgs.1 - 10 1735 c.1566A>C c.(1564-1566)AAA>AAC p.K522N CDH9_uc011cnv.1_Missense_Mutation_p.K115N NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 522 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CAAAAAAGAATTTGTGACCTC 0.318000 CD180 4064 broad.mit.edu 37 5 66480391 66480391 + Nonsense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:66480391C>A uc003juy.2 - 3 428 c.280G>T c.(280-282)GAA>TAA p.E94* NM_005582 NP_005573 Q99467 CD180_HUMAN CD180 molecule precursor 94 LRR 2.|Extracellular (Potential). inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity ovary(1) 1 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) AAAGTGTCTTCATGTATCCAG 0.338000 CMYA5 202333 broad.mit.edu 37 5 79027991 79027991 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:79027991G>A uc003kgc.2 + 2 3475 c.3403G>A c.(3403-3405)GTG>ATG p.V1135M NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1135 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) AACCAGTGAAGTGGAGAAGGG 0.413000 MTX3 345778 broad.mit.edu 37 5 79285047 79285047 + Silent SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:79285047T>C uc010jag.2 - 4 276 c.249A>G c.(247-249)GAA>GAG p.E83E MTX3_uc010jah.2_Silent_p.E83E|MTX3_uc003kge.3_Silent_p.E22E|MTX3_uc003kgf.1_5'Flank NM_001010891 NP_001010891 Q5HYI7 MTX3_HUMAN metaxin 3 83 protein targeting to mitochondrion mitochondrial outer membrane 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35) TTGCTGAGAGTTCATAATCAG 0.353000 SLCO4C1 353189 broad.mit.edu 37 5 101585438 101585438 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:101585438C>T uc003knm.2 - 9 1811 c.1524G>A c.(1522-1524)TCG>TCA p.S508S NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 508 Kazal-like.|Extracellular (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) AATATGATCGCGAACAGTTAC 0.408000 GFRA3 2676 broad.mit.edu 37 5 137588726 137588726 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:137588726C>G uc003lcn.2 - 8 1274 c.1134G>C c.(1132-1134)AGG>AGC p.R378S GFRA3_uc003lco.2_Missense_Mutation_p.R347S NM_001496 NP_001487 O60609 GFRA3_HUMAN GDNF family receptor alpha 3 preproprotein 378 peripheral nervous system development anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle receptor binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) AGGGCTGTGGCCTCACAGCAG 0.532000 PCDHA5 56143 broad.mit.edu 37 5 140201373 140201373 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:140201373C>T uc003lhl.2 + 1 13 c.13C>T c.(13-15)CGG>TGG p.R5W PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Missense_Mutation_p.R5W|PCDHA5_uc003lhj.1_Missense_Mutation_p.R5W NM_018908 NP_061731 Q9Y5H7 PCDA5_HUMAN protocadherin alpha 5 isoform 1 precursor 5 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding ovary(1)|breast(1)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTATATTCCCGGAGAGGAAG 0.468000 PCDHGB1 56104 broad.mit.edu 37 5 140730590 140730590 + Nonsense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:140730590G>T uc003ljo.1 + 1 763 c.763G>T c.(763-765)GGA>TGA p.G255* PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc011daq.1_Nonsense_Mutation_p.G255* NM_018922 NP_061745 Q9Y5G3 PCDGD_HUMAN protocadherin gamma subfamily B, 1 isoform 1 255 Extracellular (Potential).|Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTACCGTGGGGAACCTCCGT 0.522000 ATP10B 23120 broad.mit.edu 37 5 160047768 160047768 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr5:160047768C>A uc003lym.1 - 15 2849 c.2002G>T c.(2002-2004)GTG>TTG p.V668L ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.2_Missense_Mutation_p.V226L NM_025153 NP_079429 O94823 AT10B_HUMAN ATPase, class V, type 10B 668 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(3)|central_nervous_system(1)|pancreas(1) 5 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CCACTGCACACAGATGCATCA 0.587000 F13A1 2162 broad.mit.edu 37 6 6167737 6167737 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:6167737G>T uc003mwv.2 - 13 1985 c.1862C>A c.(1861-1863)GCC>GAC p.A621D F13A1_uc011dib.1_Missense_Mutation_p.A558D NM_000129 NP_000120 P00488 F13A_HUMAN coagulation factor XIII A1 subunit precursor 621 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1) 6 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CTTTTGCTTGGCCAGAACATC 0.527000 DDR1 780 broad.mit.edu 37 6 30863265 30863265 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:30863265C>T uc003nrr.2 + 13 1857 c.1598C>T c.(1597-1599)GCC>GTC p.A533V DDR1_uc010jse.2_Intron|DDR1_uc003nrq.2_Intron|DDR1_uc003nrs.2_Missense_Mutation_p.A533V|DDR1_uc003nrt.2_Intron|DDR1_uc011dms.1_Intron|DDR1_uc003nru.2_Intron|DDR1_uc003nrv.2_Missense_Mutation_p.A533V|DDR1_uc003nrw.1_Missense_Mutation_p.P305S|DDR1_uc003nry.1_Intron|DDR1_uc003nrx.1_Intron|DDR1_uc003nrz.1_5'Flank NM_013993 NP_054699 Q08345 DDR1_HUMAN discoidin domain receptor family, member 1 533 Gly/Pro-rich.|Cytoplasmic (Potential). cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(4)|central_nervous_system(3)|large_intestine(1)|ovary(1) 9 Imatinib(DB00619) CCCACACCCGCCTGGGCCAAA 0.677000 HLA-C 3107 broad.mit.edu 37 6 31236950 31236950 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:31236950G>C uc003nsy.2 - 8 1104 c.1097C>G c.(1096-1098)GCC>GGC p.A366G HLA-C_uc011dnj.1_Missense_Mutation_p.A338G|HLA-C_uc003nsx.2_Missense_Mutation_p.A245G|HLA-C_uc003nsz.2_Missense_Mutation_p.A372G|HLA-C_uc010jsl.2_Missense_Mutation_p.P365A|HLA-C_uc003nta.2_Missense_Mutation_p.S350C|HLA-C_uc003ntb.2_RNA|HLA-C_uc003ntc.1_Intron NM_002117 NP_002108 Q9TNN7 1C05_HUMAN major histocompatibility complex, class I, C 366 Cytoplasmic (Potential). antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex 0 GCTGTCTCAGGCTACAGAACA 0.488000 GRM4 2914 broad.mit.edu 37 6 34029747 34029747 + Silent SNP G G A rs143657941 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:34029747G>A uc003oir.3 - 3 965 c.795C>T c.(793-795)TTC>TTT p.F265F GRM4_uc011dsn.1_Silent_p.F265F|GRM4_uc010jvh.2_Silent_p.F265F|GRM4_uc010jvi.2_5'UTR|GRM4_uc003oio.2_5'UTR|GRM4_uc003oip.2_RNA|GRM4_uc011dsl.1_Silent_p.F125F|GRM4_uc003oiq.2_Silent_p.F132F|GRM4_uc011dsm.1_Silent_p.F96F NM_000841 NP_000832 Q14833 GRM4_HUMAN glutamate receptor, metabotropic 4 precursor 265 Extracellular (Potential). activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade cytoplasmic vesicle|integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(3)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 6 L-Glutamic Acid(DB00142) TGATCTTGTCGAACTCGCCTG 0.627000 TCP11 6954 broad.mit.edu 37 6 35086242 35086242 + Missense_Mutation SNP A A C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:35086242A>C uc003okd.2 - 10 1536 c.1355T>G c.(1354-1356)GTT>GGT p.V452G TCP11_uc003ojz.1_Missense_Mutation_p.V377G|TCP11_uc003oka.2_Missense_Mutation_p.V377G|TCP11_uc003okb.2_Missense_Mutation_p.V376G|TCP11_uc003okc.2_Missense_Mutation_p.V376G|TCP11_uc011dsu.1_Missense_Mutation_p.V434G|TCP11_uc011dsv.1_Missense_Mutation_p.V401G|TCP11_uc011dsw.1_Missense_Mutation_p.V406G NM_001093728 NP_001087197 Q8WWU5 TCP11_HUMAN t-complex 11 isoform 1 439 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(3)|skin(2) 5 CACACCAAGAACCAAACAGCA 0.458000 GJB7 375519 broad.mit.edu 37 6 87993986 87993986 + Missense_Mutation SNP T T A rs142594074 TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:87993986T>A uc003plo.2 - 3 991 c.645A>T c.(643-645)TTA>TTT p.L215F NM_198568 NP_940970 Q6PEY0 CXB7_HUMAN gap junction protein, beta 7, 25kDa 215 Cytoplasmic (Potential). cell communication connexon complex|integral to membrane 0 all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323) BRCA - Breast invasive adenocarcinoma(108;0.0167) GAGGTTTTTTTAAATATTTTT 0.418000 SYNE1 23345 broad.mit.edu 37 6 152652593 152652593 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:152652593G>A uc010kiw.2 - 78 13829 c.13227C>T c.(13225-13227)GAC>GAT p.D4409D SYNE1_uc003qot.3_Silent_p.D4338D|SYNE1_uc003qou.3_Silent_p.D4409D|SYNE1_uc010kiz.2_Silent_p.D164D NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 4409 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCATGACCCTGTCTGCGTCCT 0.517000 HNSCC(10;0.0054) LPA 4018 broad.mit.edu 37 6 161027567 161027567 + Silent SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:161027567A>G uc003qtl.2 - 18 2847 c.2727T>C c.(2725-2727)ACT>ACC p.T909T NM_005577 NP_005568 P08519 APOA_HUMAN lipoprotein Lp(a) precursor 3417 Kringle 30. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity ovary(3)|skin(2)|pancreas(1) 6 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) GCGCGACGGCAGTCCCTTCTG 0.547000 DNAH11 8701 broad.mit.edu 37 7 21939738 21939738 + Missense_Mutation SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:21939738G>T uc003svc.2 + 82 13355 c.13324G>T c.(13324-13326)GGC>TGC p.G4442C NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 4442 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CTTCATGGAGGGTAAGACACC 0.483000 Kartagener_syndrome HOXA13 3209 broad.mit.edu 37 7 27238898 27238898 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:27238898C>T uc003szb.1 - 1 828 c.799G>A c.(799-801)GAA>AAA p.E267K uc003szc.1_5'Flank NM_000522 NP_000513 P31271 HXA13_HUMAN homeobox A13 267 skeletal system development nucleus sequence-specific DNA binding breast(1) 1 CCCAAGGGTTCGTGGCGCGAC 0.677000 T NUP98 AML VPS41 27072 broad.mit.edu 37 7 38791835 38791835 + Missense_Mutation SNP A A T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:38791835A>T uc003tgy.2 - 22 1893 c.1867T>A c.(1867-1869)TAT>AAT p.Y623N VPS41_uc003tgz.2_Missense_Mutation_p.Y598N|VPS41_uc010kxn.2_Missense_Mutation_p.Y534N NM_014396 NP_055211 P49754 VPS41_HUMAN vacuolar protein sorting 41 isoform 1 623 Clathrin. Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 4 GGTCGATCATATTCAGCATAA 0.423000 VWC2 375567 broad.mit.edu 37 7 49842380 49842380 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:49842380C>T uc003tot.1 + 3 1326 c.770C>T c.(769-771)ACG>ATG p.T257M NM_198570 NP_940972 Q2TAL6 VWC2_HUMAN von Willebrand factor C domain containing 2 257 VWFC 2. negative regulation of BMP signaling pathway|positive regulation of neuron differentiation basement membrane|extracellular space 0 TGTCCCCAGACGGAGTGTGTG 0.572000 CUX1 1523 broad.mit.edu 37 7 101559469 101559469 + Silent SNP C C T rs145317607 byFrequency TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:101559469C>T uc003uyx.3 + 2 143 c.105C>T c.(103-105)ATC>ATT p.I35I CUX1_uc003uys.3_Silent_p.I46I|CUX1_uc003uyt.2_Silent_p.I46I|CUX1_uc011kkn.1_Intron|CUX1_uc003uyw.2_Silent_p.I46I|CUX1_uc003uyv.2_Silent_p.I46I|CUX1_uc003uyu.2_Silent_p.I46I NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 35 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 AGCGGCTTATCGAACAGAGCC 0.532000 GRM8 2918 broad.mit.edu 37 7 126542634 126542634 + Nonsense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:126542634G>C uc003vlr.2 - 5 1429 c.1118C>G c.(1117-1119)TCA>TGA p.S373* GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Nonsense_Mutation_p.S373*|GRM8_uc010lkz.1_RNA|GRM8_uc003vlu.1_Nonsense_Mutation_p.S94* NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 373 Extracellular (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) TTTCCCATGTGATCCTAACTT 0.373000 HNSCC(24;0.065) LRRC4 64101 broad.mit.edu 37 7 127669591 127669591 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr7:127669591C>T uc003vmk.2 - 2 1240 c.1103G>A c.(1102-1104)CGG>CAG p.R368Q SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 368 Extracellular (Potential).|Ig-like. cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) TTCTGCCATCCGACCCTCAGA 0.607000 MAK16 84549 broad.mit.edu 37 8 33356104 33356104 + Missense_Mutation SNP A A G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:33356104A>G uc003xjj.2 + 10 900 c.860A>G c.(859-861)TAC>TGC p.Y287C C8orf41_uc010lvu.1_Intron NM_032509 NP_115898 Q9BXY0 MAK16_HUMAN MAK16 homolog 287 nucleolus ovary(1) 1 GAAATAGAATACGAGCAGGAG 0.458000 MYST3 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:41790659T>G uc010lxb.2 - 18 5623 c.5079A>C c.(5077-5079)CCA>CCC p.P1693P MYST3_uc010lxc.2_Silent_p.P1693P|MYST3_uc003xon.3_Silent_p.P1693P NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) ggggagggggtgggggtggag 0.164000 SNTG1 54212 broad.mit.edu 37 8 51621478 51621478 + Silent SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:51621478T>C uc010lxy.1 + 18 1595 c.1224T>C c.(1222-1224)CAT>CAC p.H408H SNTG1_uc003xqs.1_Silent_p.H408H|SNTG1_uc010lxz.1_Silent_p.H408H|SNTG1_uc011ldl.1_RNA NM_018967 NP_061840 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 408 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding ovary(5) 5 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) TAGAAAGTCATCTAATGGGAC 0.353000 NPBWR1 2831 broad.mit.edu 37 8 53853152 53853152 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:53853152C>T uc011ldu.1 + 1 685 c.685C>T c.(685-687)CGG>TGG p.R229W NM_005285 NP_005276 P48145 NPBW1_HUMAN G protein-coupled receptor 7 229 Cytoplasmic (Potential). synaptic transmission plasma membrane opioid receptor activity|protein binding ovary(2)|breast(1) 3 Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431) CCTGCTGTGCCGGCTGCATGC 0.672000 MSC 9242 broad.mit.edu 37 8 72755963 72755963 + Missense_Mutation SNP G G C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:72755963G>C uc003xyx.1 - 1 769 c.451C>G c.(451-453)CTG>GTG p.L151V uc011lff.1_Intron|uc003xyy.2_5'Flank NM_005098 NP_005089 O60682 MUSC_HUMAN musculin 151 Helix-loop-helix motif. transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CTGGAAGCCAGCCGGAGCGTG 0.652000 OREG0018826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ATP6V0D2 245972 broad.mit.edu 37 8 87125937 87125937 + Splice_Site SNP G G T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:87125937G>T uc003ydp.1 + 2 200 c.131_splice c.e2-1 p.D44_splice NM_152565 NP_689778 Q8N8Y2 VA0D2_HUMAN ATPase, H+ transporting, lysosomal 38kDa, V0 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex hydrogen ion transmembrane transporter activity|protein binding 0 TTTAATTTCAGACCTGAAAAT 0.313000 SLC26A7 115111 broad.mit.edu 37 8 92364079 92364079 + Silent SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:92364079C>A uc003yex.2 + 11 1460 c.1182C>A c.(1180-1182)ATC>ATA p.I394I SLC26A7_uc003yey.2_RNA|SLC26A7_uc003yez.2_Silent_p.I394I|SLC26A7_uc003yfa.2_Silent_p.I394I NM_052832 NP_439897 Q8TE54 S26A7_HUMAN solute carrier family 26, member 7 isoform a 394 Helical; (Potential). basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(11;0.00802) TTATAGTCATCTATGCAATAG 0.338000 PKHD1L1 93035 broad.mit.edu 37 8 110520009 110520009 + Missense_Mutation SNP A A T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:110520009A>T uc003yne.2 + 69 11216 c.11112A>T c.(11110-11112)GAA>GAT p.E3704D NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 3704 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CTCAAGCAGAATATGAATGGG 0.428000 HNSCC(38;0.096) PKHD1L1 93035 broad.mit.edu 37 8 110535556 110535556 + Missense_Mutation SNP C C G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:110535556C>G uc003yne.2 + 76 12529 c.12425C>G c.(12424-12426)ACA>AGA p.T4142R NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4142 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) AGTGGAAATACAACAATTCCG 0.418000 HNSCC(38;0.096) TMEM71 137835 broad.mit.edu 37 8 133764099 133764099 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr8:133764099G>A uc003ytp.2 - 4 475 c.246C>T c.(244-246)TGC>TGT p.C82C TMEM71_uc003ytn.2_Silent_p.C82C|TMEM71_uc003yto.2_Silent_p.C82C NM_144649 NP_653250 Q6P5X7 TMM71_HUMAN transmembrane protein 71 isoform 1 82 integral to membrane ovary(2) 2 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CATCTTTGTCGCACAGGAAGC 0.468000 COL27A1 85301 broad.mit.edu 37 9 116982078 116982078 + Missense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr9:116982078C>A uc011lxl.1 + 13 2375 c.2375C>A c.(2374-2376)CCT>CAT p.P792H COL27A1_uc004bii.2_RNA NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 precursor 792 Collagen-like 3.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent ovary(3)|skin(1) 4 CAGGGGTTTCCTGGAGTCTTT 0.527000 TNC 3371 broad.mit.edu 37 9 117848440 117848440 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr9:117848440C>T uc004bjj.3 - 3 1932 c.1570G>A c.(1570-1572)GGC>AGC p.G524S TNC_uc010mvf.2_Missense_Mutation_p.G524S NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 524 EGF-like 12. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 CAGTCAGGGCCGGTGAAGCCG 0.597000 DAB2IP 153090 broad.mit.edu 37 9 124329506 124329506 + Silent SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr9:124329506C>T uc004bln.2 + 1 108 c.39C>T c.(37-39)TAC>TAT p.Y13Y NM_032552 NP_115941 Q5VWQ8 DAB2P_HUMAN disabled homolog 2 interacting protein isoform Error:Variant_position_missing_in_Q5VWQ8_after_alignment activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity ovary(1)|central_nervous_system(1) 2 ACGACTCCTACGGTAAGACGG 0.577000 BEND2 139105 broad.mit.edu 37 X 18192243 18192243 + Nonsense_Mutation SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:18192243C>A uc004cyj.3 - 12 2042 c.1888G>T c.(1888-1890)GAA>TAA p.E630* BEND2_uc010nfb.2_Nonsense_Mutation_p.E539* NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 630 E -> V (in Ref. 2; AAH37301). ovary(3)|kidney(1)|central_nervous_system(1) 5 TTCCTCTTTTCTCTCATTTTG 0.458000 TFE3 7030 broad.mit.edu 37 X 48887694 48887694 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:48887694C>T uc004dmb.3 - 10 1941 c.1703G>A c.(1702-1704)AGC>AAC p.S568N TFE3_uc004dmc.3_Missense_Mutation_p.S463N NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 568 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 CATGCTGAAGCTGCTGCGGCG 0.657000 T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal HUWE1 10075 broad.mit.edu 37 X 53590779 53590779 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:53590779C>T uc004dsp.2 - 52 7435 c.7033G>A c.(7033-7035)GAG>AAG p.E2345K HUWE1_uc004dsn.2_Missense_Mutation_p.E1169K NM_031407 NP_113584 Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1 2345 Glu-rich. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity ovary(8)|large_intestine(4)|breast(4)|kidney(1) 17 AGCTCATTCTCAACCTGGAGA 0.448000 BRWD3 254065 broad.mit.edu 37 X 79978259 79978259 + Missense_Mutation SNP C C T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:79978259C>T uc004edt.2 - 17 1941 c.1678G>A c.(1678-1680)GAT>AAT p.D560N BRWD3_uc004edo.2_Missense_Mutation_p.D156N|BRWD3_uc004edp.2_Missense_Mutation_p.D389N|BRWD3_uc004edq.2_Missense_Mutation_p.D156N|BRWD3_uc010nmj.1_Missense_Mutation_p.D156N|BRWD3_uc004edr.2_Missense_Mutation_p.D230N|BRWD3_uc004eds.2_Missense_Mutation_p.D156N|BRWD3_uc004edu.2_Missense_Mutation_p.D230N|BRWD3_uc004edv.2_Missense_Mutation_p.D156N|BRWD3_uc004edw.2_Missense_Mutation_p.D156N|BRWD3_uc004edx.2_Missense_Mutation_p.D156N|BRWD3_uc004edy.2_Missense_Mutation_p.D156N|BRWD3_uc004edz.2_Missense_Mutation_p.D230N|BRWD3_uc004eea.2_Missense_Mutation_p.D230N|BRWD3_uc004eeb.2_Missense_Mutation_p.D156N NM_153252 NP_694984 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 560 ovary(4) 4 GGACGATAATCCGTGTGGAAG 0.383000 ZNF711 7552 broad.mit.edu 37 X 84526509 84526509 + Missense_Mutation SNP T T C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:84526509T>C uc004eeo.2 + 9 2308 c.1961T>C c.(1960-1962)TTT>TCT p.F654S ZNF711_uc004eep.2_Missense_Mutation_p.F654S|ZNF711_uc004eeq.2_Missense_Mutation_p.F700S|ZNF711_uc011mqy.1_Missense_Mutation_p.F253S NM_021998 NP_068838 Q9Y462 ZN711_HUMAN zinc finger protein 711 654 C2H2-type 9. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|zinc ion binding ovary(3)|skin(1) 4 CACTGTGACTTTAAAACATCC 0.393000 PCDH19 57526 broad.mit.edu 37 X 99662933 99662933 + Silent SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:99662933G>A uc010nmz.2 - 1 2339 c.663C>T c.(661-663)ACC>ACT p.T221T PCDH19_uc004efw.3_Silent_p.T221T|PCDH19_uc004efx.3_Silent_p.T221T NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 221 Cadherin 2.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 TAAGGCCAACGGTGCCCAGGC 0.607000 DRP2 1821 broad.mit.edu 37 X 100513426 100513426 + Missense_Mutation SNP G G A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:100513426G>A uc004egz.2 + 22 2888 c.2519G>A c.(2518-2520)CGT>CAT p.R840H DRP2_uc011mrh.1_Missense_Mutation_p.R762H NM_001939 NP_001930 Q13474 DRP2_HUMAN dystrophin related protein 2 840 central nervous system development cytoplasm|cytoskeleton zinc ion binding ovary(2) 2 GCCGAGGCCCGTATCCTTCGG 0.602000 HTR2C 3358 broad.mit.edu 37 X 113965892 113965892 + Silent SNP C C A TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:113965892C>A uc004epu.1 + 4 953 c.225C>A c.(223-225)ATC>ATA p.I75I HTR2C_uc010nqc.1_Silent_p.I75I|HTR2C_uc004epv.1_Silent_p.I75I NM_000868 NP_000859 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C 75 Helical; Name=1; (By similarity). cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity ovary(3) 3 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) TCCTTGTGATCATGGCAGTAA 0.448000 SVEP1 79987 broad.mit.edu 37 9 113233694 113233694 + Frame_Shift_Del DEL T T - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr9:113233694delT uc010mtz.2 - 16 3285 c.2948delA c.(2947-2949)AAGfs p.K983fs SVEP1_uc010mua.1_Frame_Shift_Del_p.K983fs NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 983 cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GGGGGAAGCCTTTTTTGTTTC 0.423 FAM48B2 170067 broad.mit.edu 37 X 24331315 24331316 + Frame_Shift_Ins INS - - T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:24331315_24331316insT uc011mjw.1 - 1 117_118 c.117_118insA c.(115-120)AAACTTfs p.K39fs NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN family with sequence similarity 48, member B2 39_40 0 ATGTCATAAAGTTTTTCCTGCA 0.426 MACF1 23499 broad.mit.edu 37 1 39799060 39799061 + Frame_Shift_Ins INS - - G TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:39799059_39799060A>AG uc021olw.1 + 0 2119_2120 c.2119_2120A>AG c.(2119-2121)aggfs p.R707fs MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 2272 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGATAGTGGCAGGGAAATTTTT 0.391 B3GALNT2 148789 broad.mit.edu 37 1 235613601 235613603 + In_Frame_Del DEL GAG GAG - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr1:235613600_235613602TGAG>T uc001hxc.2 - 11 1651_1653 c.1422_1424CTCA>A c.(1420-1425)cctcag>ccAg p.Q475del NM_152490 NP_689703 Q8NCR0 B3GL2_HUMAN Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2), mRNA. 475 protein glycosylation Golgi membrane|integral to membrane galactosyltransferase activity p.Q475Q(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 18 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.0539)|Prostate(94;0.0353) OV - Ovarian serous cystadenocarcinoma(106;0.000117) CGGAGAATACTGAGGAGAAGACA 0.483 PBX2 5089 broad.mit.edu 37 6 32156075 32156075 + Frame_Shift_Del DEL T T - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr6:32156074_32156074AT>A uc003oav.1 - 2 774 c.503_503AT>T c.(502-504)atcfs p.I168fs PBX2_uc003oaw.3_Frame_Shift_Del_p.I168fs NM_002586 NP_002577 P40425 PBX2_HUMAN Homo sapiens pre-B-cell leukemia homeobox 2 (PBX2), mRNA. 168 transcription factor binding endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2) 14 TATGTGACGGATCTGGGCAAG 0.592 CEP164 22897 broad.mit.edu 37 11 117279709 117279710 + Frame_Shift_Ins INS - - C TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr11:117279708_117279709T>TC uc001prc.3 + 28 3859_3860 c.3712_3713T>TC c.(3712-3714)tccfs p.S1238fs CEP164_uc001prb.3_Frame_Shift_Ins_p.S1241fs|CEP164_uc001prf.3_Intron|CEP164_uc009yzp.1_Non-coding_Transcript|CEP164_uc001prg.1_Frame_Shift_Ins_p.S671fs NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 1238 DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) TGAATCTTTTTCCCCGCCTCAC 0.569 TOP3B 8940 broad.mit.edu 37 22 22323012 22323012 + Frame_Shift_Del DEL G G - TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chr22:22323011_22323011AG>A uc002zvs.3 - 6 1153 c.718_718CT>T c.(718-720)tacfs p.Y240fs TOP3B_uc010gtm.2_5'Flank|TOP3B_uc002zvt.4_Frame_Shift_Del_p.Y240fs|TOP3B_uc010gtl.3_Frame_Shift_Del_p.Y240fs NM_003935 NP_003926 O95985 TOP3B_HUMAN Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA. 240 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) AGCACCCAGTAGGTCTCTGGT 0.507 FAM48B2 170067 broad.mit.edu 37 X 24331316 24331317 + Frame_Shift_Ins INS - - T TCGA-BR-A4CS-01A-11D-A24D-08 TCGA-BR-A4CS-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx 90b5d039-432a-461c-9ad4-bc91e5beb02b b6b05f89-ae1b-4955-bf76-d7928a38844f g.chrX:24331315_24331316G>GT uc011mjw.2 - 0 117_118 c.117_118C>AC c.(115-120)aaacttfs p.K39fs NM_001136233 NP_001129705 P0C7V6 F48B2_HUMAN Homo sapiens family with sequence similarity 48, member B2 (FAM48B2), mRNA. 39 breast(1)|endometrium(4)|large_intestine(1)|liver(1)|lung(12)|ovary(2)|prostate(1)|skin(1) 23 ATGTCATAAAGTTTTTCCTGCA 0.426