Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample SAMD11 148398 broad.mit.edu 37 1 871255 871255 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:871255G>A uc001abw.1 + 5 489 c.409G>A c.(409-411)GAG>AAG p.E137K SAMD11_uc001abv.1_Missense_Mutation_p.E137K|SAMD11_uc001abx.1_Missense_Mutation_p.E16K NM_152486 NP_689699 Q96NU1 SAM11_HUMAN sterile alpha motif domain containing 11 137 nucleus 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) AGGCAGCCTGGAGATTGGCCT 0.677 NaN 0 0 0 0.013726 0 32 33 TNFRSF4 7293 broad.mit.edu 37 1 1148065 1148065 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:1148065T>C uc001ade.2 - 4 395 c.390A>G c.(388-390)CCA>CCG p.P130P TNFRSF4_uc001adf.2_Silent_p.P134P NM_003327 NP_003318 P43489 TNR4_HUMAN tumor necrosis factor receptor superfamily, 130 TNFR-Cys 4.|Extracellular (Potential). immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation integral to plasma membrane tumor necrosis factor receptor activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) AGAAGTGCCCTGGAGGGCAGG 0.557 NaN 0 0 0 0.008291 0 8 9 CDK11B 984 broad.mit.edu 37 1 1572863 1572863 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:1572863C>A uc001agv.1 - 18 1588 c.1477G>T c.(1477-1479)GGC>TGC p.G493C CDK11B_uc009vkj.2_Missense_Mutation_p.G150C|CDK11B_uc001ags.1_Missense_Mutation_p.G351C|CDK11B_uc001agt.1_Missense_Mutation_p.G276C|CDK11B_uc001aha.1_Missense_Mutation_p.G459C|CDK11B_uc001agw.1_Missense_Mutation_p.G448C|CDK11B_uc001agy.1_Missense_Mutation_p.G491C|CDK11B_uc001agx.1_Missense_Mutation_p.G482C|CDK11B_uc001agz.1_Missense_Mutation_p.G237C NM_033486 NP_277021 P21127 CD11B_HUMAN cell division cycle 2-like 1 (PITSLRE proteins) 506 Protein kinase. G -> S. apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding skin(1) 1 ATGTTGCTGCCCACCACAATC 0.602 NaN 1 0 3.59834e-05 0.001168 3.73876e-05 5 44 TNFRSF9 3604 broad.mit.edu 37 1 7993258 7993258 + Missense_Mutation SNP G G A rs143524950 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:7993258G>A uc001aot.2 - 7 771 c.643C>T c.(643-645)CGG>TGG p.R215W NM_001561 NP_001552 Q07011 TNR9_HUMAN tumor necrosis factor receptor superfamily, 215 Cytoplasmic (Potential).|Interaction with LRR-1. induction of apoptosis|negative regulation of cell proliferation integral to plasma membrane binding|receptor activity large_intestine(1)|lung(1)|ovary(1)|skin(1) 4 Ovarian(185;0.0634)|all_lung(157;0.151) all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649) TTTCTGCCCCGTTTAACAACA 0.428 NaN 0 0 0 0.015359 0 34 43 RERE 473 broad.mit.edu 37 1 8601355 8601355 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:8601355A>C uc001ape.2 - 8 1558 c.748T>G c.(748-750)TTT>GTT p.F250V RERE_uc001apf.2_Missense_Mutation_p.F250V|RERE_uc001aph.1_Missense_Mutation_p.F250V NM_012102 NP_036234 Q9P2R6 RERE_HUMAN atrophin-1 like protein isoform a 250 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATGTCAGAAAAATGGGAGATG 0.398 NaN 0 0 0 0.01441 0 60 64 MASP2 10747 broad.mit.edu 37 1 11097837 11097837 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:11097837A>G uc001aru.2 - 7 942 c.921T>C c.(919-921)CCT>CCC p.P307P NM_006610 NP_006601 O00187 MASP2_HUMAN mannan-binding lectin serine protease 2 isoform 307 Sushi 1. complement activation, classical pathway|complement activation, lectin pathway|proteolysis extracellular region calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.249) Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.071) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) CGTGGCCATTAGGTGGCGCCA 0.507 NaN OREG0013096 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.01892 0 25 130 PRAMEF12 390999 broad.mit.edu 37 1 12835714 12835714 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:12835714C>T uc001aui.2 + 2 343 c.316C>T c.(316-318)CGG>TGG p.R106W NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 106 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GTTGGACTTGCGGAATGTGGA 0.512 NaN 0 0 0 0.01441 0 51 333 CAPZB 832 broad.mit.edu 37 1 19670914 19670914 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:19670914T>C uc010ocz.1 - 8 1184 c.756A>G c.(754-756)AAA>AAG p.K252K CAPZB_uc001bce.2_Silent_p.K223K|CAPZB_uc009vpk.2_Intron|CAPZB_uc001bcd.2_Silent_p.K211K NM_004930 NP_004921 P47756 CAPZB_HUMAN F-actin capping protein beta subunit 223 actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement cytosol|F-actin capping protein complex|WASH complex actin binding 0 Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173) TACTTCTGATTTTATTTTCCA 0.438 NaN OREG0013171 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.012213 0 31 112 BMP8B 656 broad.mit.edu 37 1 40228856 40228856 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:40228856G>A uc001cdz.1 - 6 1343 c.967C>T c.(967-969)CAA>TAA p.Q323* PPIE_uc001cdv.2_Intron|PPIE_uc001cdw.2_Intron NM_001720 NP_001711 P34820 BMP8B_HUMAN bone morphogenetic protein 8B preproprotein 323 cartilage development|cell differentiation|growth|ossification extracellular space cytokine activity|growth factor activity 0 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAGTAGCCTTGGGGAGCGATG 0.622 NaN 0 0 0 0.007835 0 39 142 FGGY 55277 broad.mit.edu 37 1 59787249 59787249 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:59787249A>T uc001czi.3 + 2 240 c.28A>T c.(28-30)AGG>TGG p.R10W FGGY_uc001czg.2_5'UTR|FGGY_uc001czh.2_RNA|FGGY_uc009wac.2_Missense_Mutation_p.R10W|FGGY_uc001czj.3_Missense_Mutation_p.R10W|FGGY_uc001czk.3_Intron|FGGY_uc001czl.3_Missense_Mutation_p.R10W NM_018291 NP_060761 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 10 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(1) 1 all_cancers(7;7.36e-05) GAAACCAGAGAGGTACTATGT 0.493 NaN 0 0 0 0.006214 0 7 24 EFCAB7 84455 broad.mit.edu 37 1 64027423 64027423 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:64027423T>C uc001dbf.2 + 11 1686 c.1392T>C c.(1390-1392)TTT>TTC p.F464F NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 464 calcium ion binding 0 GACAAGGATTTATGGATTTGA 0.308 NaN 0 0 0 0.001984 0 5 53 BCL10 8915 broad.mit.edu 37 1 85741980 85741980 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:85741980T>A uc001dkz.2 - 2 761 c.56A>T c.(55-57)GAC>GTC p.D19V uc001dla.1_5'Flank NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 19 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) GTTACTCACGTCCTTCTTCAC 0.682 NaN T IGH@ MALT 0 0 0 0.010818 0 28 99 MOV10 4343 broad.mit.edu 37 1 113217556 113217556 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:113217556C>G uc001eck.2 + 2 292 c.22C>G c.(22-24)CGG>GGG p.R8G MOV10_uc001ecl.2_Missense_Mutation_p.R8G|MOV10_uc001ecn.2_Missense_Mutation_p.R8G|MOV10_uc001ecm.2_5'UTR|MOV10_uc009wgj.1_5'UTR NM_001130079 NP_001123551 Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog 8 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding ovary(4)|skin(1) 5 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) GTTCAGCTGCCGGCAGCTCCG 0.637 NaN 0 0 0 0.00632 0 20 69 NES 10763 broad.mit.edu 37 1 156639511 156639511 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:156639511T>C uc001fpq.2 - 4 4602 c.4469A>G c.(4468-4470)CAG>CGG p.Q1490R NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1490 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGCACTGTCCTGGGACTCCGT 0.587 NaN 0 0 0 0.007413 0 20 81 SELP 6403 broad.mit.edu 37 1 169578782 169578782 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:169578782A>G uc001ggi.3 - 8 1358 c.1293T>C c.(1291-1293)GAT>GAC p.D431D SELP_uc001ggh.2_Silent_p.D266D|SELP_uc009wvr.2_Silent_p.D431D NM_003005 NP_002996 P16109 LYAM3_HUMAN selectin P precursor 431 Sushi 4.|Extracellular (Potential). platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding ovary(2)|skin(2) 4 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GTCCCAAGTTATCACACCGAA 0.488 NaN 0 0 0 0.01441 0 42 32 DNM3 26052 broad.mit.edu 37 1 172007570 172007570 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:172007570G>A uc001gie.2 + 7 1137 c.961G>A c.(961-963)GAC>AAC p.D321N DNM3_uc001gid.3_Missense_Mutation_p.D321N|DNM3_uc009wwb.2_Missense_Mutation_p.D321N|DNM3_uc001gif.2_Missense_Mutation_p.D321N NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN dynamin 3 isoform a 321 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding breast(1) 1 CAAACCAGAAGACCCAACAAG 0.418 NaN 0 0 0 0.01441 0 90 78 XPR1 9213 broad.mit.edu 37 1 180843064 180843064 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:180843064A>G uc001goi.2 + 13 1986 c.1794A>G c.(1792-1794)CCA>CCG p.P598P XPR1_uc009wxn.2_Silent_p.P533P NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 598 EXS.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 TCTTTGCCCCACTTGAGGTTT 0.363 NaN 0 0 0 0.007835 0 40 37 TRAF5 7188 broad.mit.edu 37 1 211529792 211529792 + Silent SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:211529792T>A uc001hih.2 + 4 420 c.360T>A c.(358-360)GTT>GTA p.V120V TRAF5_uc001hii.2_Silent_p.V120V|TRAF5_uc010psx.1_Silent_p.V120V|TRAF5_uc010psy.1_Silent_p.V120V|TRAF5_uc001hij.2_Silent_p.V120V NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 120 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) ATGCCAAGGTTATTCTGGGCC 0.378 NaN 0 0 0 0.014323 0 21 154 CUBN 8029 broad.mit.edu 37 10 16911660 16911660 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:16911660C>T uc001ioo.2 - 59 9481 c.9429G>A c.(9427-9429)TGG>TGA p.W3143* CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Nonsense_Mutation_p.W499* NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3143 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AAGACATCTTCCAGCCTTTTG 0.448 NaN 0 0 0 0.01441 0 149 201 CUBN 8029 broad.mit.edu 37 10 16911845 16911845 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:16911845C>G uc001ioo.2 - 59 9296 c.9244G>C c.(9244-9246)GAT>CAT p.D3082H CUBN_uc009xjq.1_RNA|CUBN_uc009xjr.1_Missense_Mutation_p.D438H NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 3082 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACATCAAAATCACTGAACCTG 0.413 NaN 0 0 0 0.006999 0 38 57 ARMC3 219681 broad.mit.edu 37 10 23290965 23290965 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:23290965A>G uc001irm.3 + 12 1626 c.1543A>G c.(1543-1545)AAT>GAT p.N515D ARMC3_uc010qcv.1_Missense_Mutation_p.N515D|ARMC3_uc010qcw.1_Missense_Mutation_p.N252D NM_173081 NP_775104 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 515 binding 0 GCTGACGGCCAATGAATTATG 0.532 NaN 0 0 0 0.020292 0 13 23 DLG5 9231 broad.mit.edu 37 10 79567584 79567584 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:79567584T>G uc001jzk.2 - 25 4836 c.4766A>C c.(4765-4767)AAG>ACG p.K1589T DLG5_uc001jzi.2_Missense_Mutation_p.K344T|DLG5_uc001jzj.2_Missense_Mutation_p.K1004T|DLG5_uc009xru.1_RNA NM_004747 NP_004738 Q8TDM6 DLG5_HUMAN discs large homolog 5 1589 cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity ovary(5)|breast(3) 8 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AGGCAGGCCCTTGGCCTTCGT 0.572 NaN 0 0 0 0.016522 0 20 129 POLR3A 11128 broad.mit.edu 37 10 79769683 79769683 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:79769683G>A uc001jzn.2 - 13 1803 c.1709C>T c.(1708-1710)TCA>TTA p.S570L NM_007055 NP_008986 O14802 RPC1_HUMAN polymerase (RNA) III (DNA directed) polypeptide 570 innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding 0 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AACCAGTATTGAAGCAATGAT 0.453 NaN 0 0 0 0.008871 0 21 50 ATRNL1 26033 broad.mit.edu 37 10 117607452 117607452 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:117607452T>G uc001lcg.2 + 28 4354 c.3968T>G c.(3967-3969)TTT>TGT p.F1323C ATRNL1_uc010qsm.1_Missense_Mutation_p.F452C|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 1323 Cytoplasmic (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) CTGACTGTGTTTCTTTGTCTA 0.473 NaN 0 0 0 0.013726 0 30 59 EIF3A 8661 broad.mit.edu 37 10 120801833 120801833 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:120801833G>A uc001ldu.2 - 19 3345 c.3199C>T c.(3199-3201)CGG>TGG p.R1067W EIF3A_uc010qsu.1_Missense_Mutation_p.R1033W|EIF3A_uc009xzg.1_Missense_Mutation_p.R106W NM_003750 NP_003741 Q14152 EIF3A_HUMAN eukaryotic translation initiation factor 3, 1067 15.|Asp-rich.|25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT]. formation of translation initiation complex cytosol|eukaryotic translation initiation factor 3 complex protein binding|structural molecule activity|translation initiation factor activity 0 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0236) CTGGGACCCCGGTCATCATCA 0.632 NaN 0 0 0 0.01441 0 63 311 CTBP2 1488 broad.mit.edu 37 10 126727575 126727575 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:126727575T>A uc009yak.2 - 3 336 c.49A>T c.(49-51)ATT>TTT p.I17F CTBP2_uc009yal.2_Missense_Mutation_p.I17F|CTBP2_uc001lif.3_Missense_Mutation_p.I17F|CTBP2_uc001lih.3_Missense_Mutation_p.I17F NM_001329 NP_001320 P56545 CTBP2_HUMAN C-terminal binding protein 2 isoform 1 17 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding 0 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CCTTCACAAATTCTGTCCAAT 0.468 NaN 0 0 0 0.010504 0 20 96 INPP5A 3632 broad.mit.edu 37 10 134579295 134579295 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:134579295G>C uc001llp.2 + 12 1170 c.922G>C c.(922-924)GAG>CAG p.E308Q INPP5A_uc001llo.1_Missense_Mutation_p.E308Q|INPP5A_uc001llq.2_Missense_Mutation_p.E203Q NM_005539 NP_005530 Q14642 I5P1_HUMAN inositol polyphosphate-5-phosphatase A 308 cell communication membrane inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding skin(1) 1 all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326) GTTTGACAAGGAGTTGTCTGT 0.502 NaN 0 0 0 0.00632 0 25 84 SYCE1 93426 broad.mit.edu 37 10 135369108 135369108 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr10:135369108G>T uc001lno.2 - 11 928 c.823C>A c.(823-825)CGG>AGG p.R275R CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Silent_p.R147R|SYCE1_uc009ybn.2_Silent_p.R275R|SYCE1_uc001lnn.2_Silent_p.R239R NM_001143764 NP_001137236 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 275 Gln-rich.|Potential. cell division central element ovary(1) 1 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CACCTctgccgcttctgctgc 0.373 NaN 1 0 2.17888e-05 0.006214 2.275e-05 9 22 OR51A4 401666 broad.mit.edu 37 11 4967692 4967692 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:4967692A>G uc010qys.1 - 1 639 c.639T>C c.(637-639)ATT>ATC p.I213I NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAATGAGAATAAAGTCTA 0.428 NaN 0 0 0 0.021523 0 18 79 OR51A2 401667 broad.mit.edu 37 11 4976305 4976305 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:4976305A>G uc010qyt.1 - 1 639 c.639T>C c.(637-639)ATT>ATC p.I213I NM_001004748 NP_001004748 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, 213 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CAGCAATGAGAATAAAGTCTA 0.433 NaN 0 0 0 0.007413 0 14 16 NLRP14 338323 broad.mit.edu 37 11 7079645 7079645 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:7079645C>T uc001mfb.1 + 8 2920 c.2597C>T c.(2596-2598)GCC>GTC p.A866V NM_176822 NP_789792 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 866 cell differentiation|multicellular organismal development|spermatogenesis ATP binding ovary(3)|breast(2)|pancreas(1)|lung(1)|skin(1) 8 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATGAGTGATGCCCTGCAACAT 0.363 NaN 0 0 0 0.01441 0 49 58 COPB1 1315 broad.mit.edu 37 11 14490389 14490389 + Missense_Mutation SNP C C A rs139561241 byFrequency TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:14490389C>A uc001mli.2 - 16 2290 c.1983G>T c.(1981-1983)AGG>AGT p.R661S COPB1_uc001mlg.2_Missense_Mutation_p.R661S|COPB1_uc001mlh.2_Missense_Mutation_p.R661S NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 661 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 CTGTCACATTCCTCTTTTCAG 0.378 NaN 1 0 1.66251e-12 0.01441 1.76176e-12 47 181 INSC 387755 broad.mit.edu 37 11 15212291 15212291 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:15212291A>G uc001mly.2 + 6 811 c.765A>G c.(763-765)ACA>ACG p.T255T INSC_uc001mlz.2_Silent_p.T208T|INSC_uc001mma.2_Silent_p.T208T|INSC_uc010rcs.1_Silent_p.T243T|INSC_uc001mmb.2_Silent_p.T208T|INSC_uc001mmc.2_Silent_p.T208T NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 255 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 TCTACACCACAGAGTCCACCA 0.507 NaN 0 0 0 0.01441 0 107 150 KCNA4 3739 broad.mit.edu 37 11 30033503 30033503 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:30033503C>T uc001msk.2 - 2 1875 c.723G>A c.(721-723)CTG>CTA p.L241L NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 241 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTGGCCTCTTCAGGCGGCCTC 0.498 NaN 0 0 0 0.01441 0 61 99 MYBPC3 4607 broad.mit.edu 37 11 47359095 47359095 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:47359095G>C uc001nfa.3 - 24 2504 c.2449C>G c.(2449-2451)CGG>GGG p.R817G MYBPC3_uc010rhl.1_Intron NM_000256 NP_000247 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 816 Fibronectin type-III 1. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding ovary(2)|central_nervous_system(1) 3 Lung(87;0.176) CGCATCCACCGGTAGCTCTTC 0.607 NaN 0 0 0 0.006214 0 9 43 KIAA1377 57562 broad.mit.edu 37 11 101833686 101833686 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:101833686A>T uc001pgm.2 + 6 2190 c.1920A>T c.(1918-1920)GAA>GAT p.E640D KIAA1377_uc001pgn.2_Missense_Mutation_p.E596D|KIAA1377_uc010run.1_Missense_Mutation_p.E441D|KIAA1377_uc009yxa.1_Missense_Mutation_p.E441D NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 640 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GCAATATAGAAAACAATGCTG 0.348 NaN 0 0 0 0.016723 0 13 78 ATM 472 broad.mit.edu 37 11 108218083 108218083 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 A T A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:108218083A>T uc001pkb.1 + 59 9047 c.8662A>T c.(8662-8664)ATA>TTA p.I2888L ATM_uc009yxr.1_Missense_Mutation_p.I2888L|C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.I1540L NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2888 PI3K/PI4K. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.I2888T(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ACTTGTACATATAGATCTAGG 0.303 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.01441 0 53 89 CBL 867 broad.mit.edu 37 11 119170369 119170369 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr11:119170369C>T uc001pwe.2 + 16 2737 c.2599C>T c.(2599-2601)CAG>TAG p.Q867* NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 867 Interaction with CD2AP.|UBA. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) CCTCATGAGTCAGGGGTACTC 0.532 NaN CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 0 0 0 0.01441 0 267 202 CD27 939 broad.mit.edu 37 12 6554303 6554304 + Missense_Mutation DNP CC CC AG TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:6554303_6554304CC>AG uc001qod.2 + 1 253_254 c.42_43CC>AG c.(40-45)ACCCTG>ACAGTG p.L15V LOC678655_uc001qob.2_Intron|LOC678655_uc001qoc.2_Intron|LOC678655_uc009zel.1_Intron|CD27_uc001qoe.2_5'Flank NM_001242 NP_001233 P26842 CD27_HUMAN tumor necrosis factor receptor superfamily, 15 anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|immunoglobulin mediated immune response|induction of apoptosis|positive regulation of B cell differentiation|positive regulation of JNK cascade|release of cytoplasmic sequestered NF-kappaB extracellular region|integral to plasma membrane caspase inhibitor activity|protein binding|transmembrane receptor activity 0 TTCTGGGGACCCTGGTGGGGCT 0.629 NaN 0 0 0 0.004672 0 10 23 SLCO1B3 28234 broad.mit.edu 37 12 21242857 21242857 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:21242857C>T uc010sil.1 + 16 2129 c.2064C>T c.(2062-2064)GGC>GGT p.G688G LST-3TM12_uc010sim.1_Silent_p.G627G|LST-3TM12_uc010sin.1_Silent_p.G580G Q9NPD5 SO1B3_HUMAN SubName: Full=Liver-specific organic anion transporter 3TM13; SubName: Full=Organic anion transporter LST-3c; Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity large_intestine(2)|ovary(1)|skin(1) 4 Esophageal squamous(101;0.149) CCTTCTTCGGCTTGAAGGTAG 0.299 NaN 0 0 0 0.003163 0 15 48 ABCC9 10060 broad.mit.edu 37 12 22028606 22028606 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:22028606C>G uc001rfi.1 - 15 2094 c.2074G>C c.(2074-2076)GAT>CAT p.D692H ABCC9_uc001rfh.2_Missense_Mutation_p.D692H|ABCC9_uc001rfj.1_Missense_Mutation_p.D656H NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 692 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) ATTCGAATATCTATATTGGAT 0.308 NaN 0 0 0 0.016522 0 21 123 ITPR2 3709 broad.mit.edu 37 12 26492374 26492374 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:26492374C>T uc001rhg.2 - 57 8479 c.8062G>A c.(8062-8064)GGA>AGA p.G2688R NM_002223 NP_002214 Q14571 ITPR2_HUMAN inositol 1,4,5-triphosphate receptor, type 2 2688 Cytoplasmic (Potential). activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity kidney(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 14 Colorectal(261;0.0847) GTGTTTGATCCGAGGAAGCCC 0.502 NaN 0 0 0 0.004482 0 7 76 SLC4A8 9498 broad.mit.edu 37 12 51856143 51856143 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:51856143C>T uc001rys.1 + 10 1329 c.1151C>T c.(1150-1152)GCG>GTG p.A384V SLC4A8_uc010sni.1_Missense_Mutation_p.A331V|SLC4A8_uc001rym.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryn.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryo.2_Missense_Mutation_p.A331V|SLC4A8_uc001ryp.1_3'UTR|SLC4A8_uc010snj.1_Missense_Mutation_p.A411V|SLC4A8_uc001ryq.3_Missense_Mutation_p.A384V|SLC4A8_uc001ryr.2_Missense_Mutation_p.A384V|SLC4A8_uc010snk.1_Missense_Mutation_p.A331V NM_001039960 NP_001035049 Q2Y0W8 S4A8_HUMAN solute carrier family 4, sodium bicarbonate 384 Extracellular (Potential). bicarbonate transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity ovary(3)|pancreas(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(357;0.15) GATCTCCTGGCGGGGATTGAT 0.458 NaN 0 0 0 0.013726 0 33 142 PAN2 9924 broad.mit.edu 37 12 56720613 56720613 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:56720613A>G uc001skx.2 - 7 1423 c.1050T>C c.(1048-1050)TCT>TCC p.S350S PAN2_uc001skw.2_5'Flank|PAN2_uc001skz.2_Silent_p.S350S|PAN2_uc001sky.2_Silent_p.S350S NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 polyA specific ribonuclease subunit homolog 350 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity ovary(2)|skin(2)|large_intestine(1)|breast(1) 6 CACAGCCCTCAGAATCCCCAA 0.557 NaN 0 0 0 0.01441 0 165 205 LRIG3 121227 broad.mit.edu 37 12 59271541 59271541 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:59271541G>C uc001sqr.2 - 15 2423 c.2177C>G c.(2176-2178)CCT>CGT p.P726R LRIG3_uc009zqh.2_Missense_Mutation_p.P666R|LRIG3_uc010ssh.1_RNA NM_153377 NP_700356 Q6UXM1 LRIG3_HUMAN leucine-rich repeats and immunoglobulin-like 726 Ig-like C2-type 3. integral to membrane skin(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;1.17e-18) GTTCAGTTTAGGGGGAGGGCT 0.488 NaN 0 0 0 0.012213 0 33 119 XPOT 11260 broad.mit.edu 37 12 64815090 64815090 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:64815090A>G uc001ssb.2 + 9 1345 c.919A>G c.(919-921)AGT>GGT p.S307G XPOT_uc009zqm.1_Missense_Mutation_p.S217G NM_007235 NP_009166 O43592 XPOT_HUMAN tRNA exportin 307 Necessary for interaction with Ran, nuclear localization and nuclear import. intracellular protein transport|tRNA export from nucleus cytoplasm|nucleoplasm protein transporter activity|tRNA binding ovary(2) 2 GBM - Glioblastoma multiforme(28;0.0404) AGTTAGTTGGAGTAAATTAAT 0.373 NaN 0 0 0 0.013114 0 47 166 CNOT2 4848 broad.mit.edu 37 12 70672040 70672040 + Nonsense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:70672040A>T uc001svv.2 + 2 613 c.34A>T c.(34-36)AAA>TAA p.K12* CNOT2_uc009zro.2_Nonsense_Mutation_p.K12*|CNOT2_uc009zrp.2_5'UTR|CNOT2_uc009zrq.2_Nonsense_Mutation_p.K12* NM_014515 NP_055330 Q9NZN8 CNOT2_HUMAN CCR4-NOT transcription complex, subunit 2 12 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) ATTATCTGAGAAAAGAAACTA 0.398 NaN 0 0 0 0.00623 0 38 105 SLC5A8 160728 broad.mit.edu 37 12 101595946 101595946 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:101595946A>T uc001thz.3 - 3 855 c.465T>A c.(463-465)AAT>AAA p.N155K NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 155 Extracellular (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 ATGTACCTTGATTCAAAGCCA 0.388 NaN 0 0 0 0.012213 0 29 47 PRDM4 11108 broad.mit.edu 37 12 108140192 108140192 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:108140192A>G uc001tmp.2 - 6 1573 c.1136T>C c.(1135-1137)CTG>CCG p.L379P PRDM4_uc001tmq.2_RNA NM_012406 NP_036538 Q9UKN5 PRDM4_HUMAN PR domain containing 4 379 cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|skin(1) 2 GCGGTCACACAGAGTACACCC 0.428 NaN 0 0 0 0.014758 0 3 104 NAA25 80018 broad.mit.edu 37 12 112499125 112499125 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:112499125G>A uc001ttm.2 - 12 1237 c.1217C>T c.(1216-1218)GCT>GTT p.A406V NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.A378V|NAA25_uc009zwa.1_Missense_Mutation_p.A406V NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 406 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 TCTGATGTCAGCAGGCAGTGC 0.458 NaN 0 0 0 0.019004 0 33 36 GPR133 283383 broad.mit.edu 37 12 131487771 131487771 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:131487771C>T uc001uit.3 + 10 1627 c.1068C>T c.(1066-1068)ACC>ACT p.T356T GPR133_uc010tbm.1_Silent_p.T388T NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 356 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CTATTGACACCGTCATGGGCC 0.602 NaN 0 0 0 0.01441 0 52 167 ANKLE2 23141 broad.mit.edu 37 12 133327289 133327289 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:133327289T>C uc001ukx.2 - 3 854 c.787A>G c.(787-789)ACG>GCG p.T263A ANKLE2_uc001uky.3_Missense_Mutation_p.T201A NM_015114 NP_055929 Q86XL3 ANKL2_HUMAN ankyrin repeat and LEM domain containing 2 263 cytoplasm|integral to membrane|nuclear envelope 0 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06) GGTAAGGACGTTTTGCTTGGA 0.423 NaN 0 0 0 0.01441 0 46 40 NBEA 26960 broad.mit.edu 37 13 35923273 35923273 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:35923273A>G uc001uvb.2 + 37 6138 c.5932A>G c.(5932-5934)ATA>GTA p.I1978V NBEA_uc010abi.2_Missense_Mutation_p.I634V NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 1978 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) GAAGGACCATATAGTCCGTGT 0.348 NaN 0 0 0 0.010729 0 10 51 TRPC4 7223 broad.mit.edu 37 13 38320157 38320157 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:38320157G>A uc001uws.2 - 3 1049 c.814C>T c.(814-816)CGA>TGA p.R272* TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Nonsense_Mutation_p.R272*|TRPC4_uc010tey.1_Nonsense_Mutation_p.R272*|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Nonsense_Mutation_p.R272*|TRPC4_uc010aby.2_Nonsense_Mutation_p.R272* NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 272 Cytoplasmic (Potential).|Multimerization domain (By similarity). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TTGTCATCTCGGTAATTAAGA 0.418 NaN 0 0 0 0.01441 0 109 281 SCEL 8796 broad.mit.edu 37 13 78178541 78178541 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:78178541A>G uc001vki.2 + 19 1318 c.1148A>G c.(1147-1149)AAT>AGT p.N383S SCEL_uc001vkj.2_Missense_Mutation_p.N363S|SCEL_uc010thx.1_Intron NM_144777 NP_659001 O95171 SCEL_HUMAN sciellin isoform 1 383 16 X approximate tandem repeats.|7. embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding ovary(4)|breast(1) 5 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) ACAAATAAAAATATTACGAGG 0.333 NaN 0 0 0 0.01441 0 83 182 LRP10 26020 broad.mit.edu 37 14 23344694 23344694 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr14:23344694C>T uc001whd.2 + 5 1090 c.537C>T c.(535-537)TTC>TTT p.F179F LRP10_uc001whe.2_Silent_p.F55F NM_014045 NP_054764 Q7Z4F1 LRP10_HUMAN low density lipoprotein receptor-related protein 179 Extracellular (Potential). endocytosis coated pit|integral to membrane central_nervous_system(1) 1 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.00549) CAGACCCCTTCCCTGGCCTGA 0.582 NaN 0 0 0 0.01441 0 71 191 MIPOL1 145282 broad.mit.edu 37 14 37838794 37838795 + Missense_Mutation DNP CT CT GA TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr14:37838794_37838795CT>GA uc001wuc.2 + 11 1404_1405 c.901_902CT>GA c.(901-903)CTG>GAG p.L301E MIPOL1_uc010amr.2_Intron|MIPOL1_uc001wub.3_Missense_Mutation_p.L270E|MIPOL1_uc001wud.2_Missense_Mutation_p.L301E|MIPOL1_uc010ams.2_Missense_Mutation_p.L301E|MIPOL1_uc001wue.2_Missense_Mutation_p.L270E|MIPOL1_uc010amt.2_Missense_Mutation_p.L120E NM_138731 NP_620059 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 301 Potential. ovary(1)|central_nervous_system(1) 2 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) CATGAGACATCTGACTGCTGAA 0.46 NaN 0 0 0 0.004672 0 27 52 FSIP1 161835 broad.mit.edu 37 15 39910371 39910371 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr15:39910371T>C uc001zki.2 - 11 1482 c.1264A>G c.(1264-1266)ATC>GTC p.I422V NM_152597 NP_689810 Q8NA03 FSIP1_HUMAN fibrous sheath interacting protein 1 422 ovary(2)|skin(1) 3 all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142) AGTTTAATGATGGATTTTTGT 0.368 NaN 0 0 0 0.01441 0 53 65 IGF1R 3480 broad.mit.edu 37 15 99250976 99250976 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr15:99250976G>A uc002bul.2 + 2 330 c.280G>A c.(280-282)GAG>AAG p.E94K IGF1R_uc010urq.1_Missense_Mutation_p.E94K|IGF1R_uc010bon.2_Missense_Mutation_p.E94K NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 94 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GGCTGGCCTCGAGAGCCTCGG 0.577 NaN 0 0 0 0.001984 0 7 62 NME4 4833 broad.mit.edu 37 16 449378 449378 + Splice_Site SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:449378G>A uc002cgz.2 + 3 257 c.226_splice c.e3-1 p.A76_splice NME4_uc002cgy.2_Splice_Site_p.A6_splice|NME4_uc002cha.2_Splice_Site|DECR2_uc002chb.2_5'Flank|DECR2_uc002chc.2_5'Flank|DECR2_uc010bqv.2_5'Flank|DECR2_uc002chd.2_5'Flank NM_005009 NP_005000 O00746 NDKM_HUMAN nucleoside diphosphate kinase 4 precursor CTP biosynthetic process|GTP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|UTP biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space ATP binding|metal ion binding|nucleoside diphosphate kinase activity 0 Hepatocellular(16;0.00015) ATGCCACCCAGGCACCAGAGA 0.607 NaN 0 0 0 0.01441 0 130 282 C16orf54 283897 broad.mit.edu 37 16 29756070 29756070 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:29756070C>T uc002dtp.2 - 2 312 c.203G>A c.(202-204)CGT>CAT p.R68H uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|uc002dtq.1_5'Flank NM_175900 NP_787096 Q6UWD8 CP054_HUMAN hypothetical protein LOC283897 68 integral to membrane 0 GGTGGGTGCACGGTGGCTGGG 0.677 NaN 0 0 0 0.009096 0 4 3 ACD 65057 broad.mit.edu 37 16 67692470 67692470 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:67692470G>T uc002etq.3 - 9 1412 c.1075C>A c.(1075-1077)CCC>ACC p.P359T ACD_uc002etp.3_Missense_Mutation_p.P356T|ACD_uc002etr.3_Missense_Mutation_p.P356T|ACD_uc010vjt.1_3'UTR|PARD6A_uc002ets.2_5'Flank|PARD6A_uc002ett.2_5'Flank|PARD6A_uc002etu.2_5'Flank NM_001082486 NP_001075955 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog isoform 1 359 Ser-rich. intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding pancreas(1) 1 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) GAGGAACTGGGTGAGGAAGGA 0.617 NaN 1 0 3.28513e-13 0.021523 3.51624e-13 23 107 CENPT 80152 broad.mit.edu 37 16 67863976 67863976 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:67863976G>A uc002eun.3 - 12 1427 c.878C>T c.(877-879)GCC>GTC p.A293V CENPT_uc002eum.3_Missense_Mutation_p.A293V|CENPT_uc010vkc.1_Missense_Mutation_p.A51V|CENPT_uc010vkd.1_Missense_Mutation_p.A46V|CENPT_uc010vke.1_3'UTR NM_025082 NP_079358 Q96BT3 CENPT_HUMAN centromere protein T 293 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding 0 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) CAGAAACTGGGCTGGTTTCCC 0.567 NaN 0 0 0 0.009535 0 32 36 VAC14 55697 broad.mit.edu 37 16 70834774 70834774 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:70834774G>T uc002ezm.2 - 1 288 c.30C>A c.(28-30)CTC>CTA p.L10L VAC14_uc010cfw.2_5'UTR|VAC14_uc002ezn.2_5'UTR NM_018052 NP_060522 Q08AM6 VAC14_HUMAN Vac14 homolog 10 HEAT 1. interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity pancreas(1)|skin(1) 2 Ovarian(137;0.0699) TGTTAGGCGTGAGCGGCGCGA 0.522 NaN 1 0 0.00244969 0.020292 0.0025207 13 109 FTSJD1 55783 broad.mit.edu 37 16 71319027 71319027 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:71319027A>C uc010cga.2 - 3 1203 c.797T>G c.(796-798)CTT>CGT p.L266R FTSJD1_uc002ezy.3_Missense_Mutation_p.L266R|FTSJD1_uc002ezz.3_Missense_Mutation_p.L266R NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 266 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 ACCGTTTCCAAGAGTGGTCAG 0.398 NaN 0 0 0 0.008361 0 29 60 ZZEF1 23140 broad.mit.edu 37 17 3920781 3920781 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:3920781C>T uc002fxe.2 - 48 7949 c.7885G>A c.(7885-7887)GAG>AAG p.E2629K ZZEF1_uc002fxg.1_5'UTR NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 2629 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 CTAGGCCACTCGGCGAGCAGG 0.577 NaN 0 0 0 0.012213 0 21 44 PER1 5187 broad.mit.edu 37 17 8046123 8046123 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:8046123C>T uc002gkd.2 - 20 3341 c.3103G>A c.(3103-3105)GCA>ACA p.A1035T PER1_uc010cns.2_5'Flank|PER1_uc010vuq.1_RNA NM_002616 NP_002607 O15534 PER1_HUMAN period 1 1035 Ser-rich. circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1) 9 CCGGAAAGTGCGTCCTGATTG 0.647 NaN T ETV6 AML|CMML Other_conserved_DNA_damage_response_genes 0 0 0 0.004482 0 8 26 TOP3A 7156 broad.mit.edu 37 17 18196135 18196135 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:18196135T>C uc002gsx.1 - 11 1334 c.1105A>G c.(1105-1107)ATT>GTT p.I369V TOP3A_uc010cpz.1_5'Flank|TOP3A_uc010vxr.1_Intron|TOP3A_uc002gsw.1_Intron|TOP3A_uc010vxs.1_Missense_Mutation_p.I267V NM_004618 NP_004609 Q13472 TOP3A_HUMAN topoisomerase (DNA) III alpha 369 DNA topological change|meiosis chromosome|PML body ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding skin(3) 3 CTGGGAAAAATGTTTGTTTCT 0.483 NaN 0 0 0 0.01441 0 48 86 EFCAB5 374786 broad.mit.edu 37 17 28405458 28405458 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:28405458C>G uc002het.2 + 15 3155 c.2963C>G c.(2962-2964)GCT>GGT p.A988G EFCAB5_uc010cse.2_Missense_Mutation_p.A743G|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 988 calcium ion binding ovary(1)|skin(1) 2 ATCCAATGTGCTGCAGAGACA 0.473 NaN 0 0 0 0.010504 0 22 54 EVI2B 2124 broad.mit.edu 37 17 29631980 29631980 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:29631980C>G uc002hgk.2 - 2 803 c.648G>C c.(646-648)TTG>TTC p.L216F NF1_uc002hgg.2_Intron|NF1_uc002hgh.2_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.2_Intron|EVI2B_uc010csq.2_Missense_Mutation_p.L231F NM_006495 NP_006486 P34910 EVI2B_HUMAN ecotropic viral integration site 2B precursor 216 Helical; (Potential). cytoplasm|integral to plasma membrane ovary(2) 2 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184) TTATAGCTACCAACATAGAAG 0.343 NaN 0 0 0 0.01441 0 53 161 PLEKHM1 9842 broad.mit.edu 37 17 43545795 43545795 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:43545795G>C uc002ija.2 - 5 1258 c.1088C>G c.(1087-1089)GCA>GGA p.A363G PLEKHM1_uc010wjm.1_Missense_Mutation_p.A335G|PLEKHM1_uc002ijb.2_Intron|PLEKHM1_uc010wjn.1_Missense_Mutation_p.A312G NM_014798 NP_055613 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M 363 intracellular signal transduction cytoplasm metal ion binding 0 Renal(3;0.0405) TCCAGAGGCTGCCTGGGCAGG 0.642 NaN 0 0 0 0.006214 0 8 43 KPNB1 3837 broad.mit.edu 37 17 45750422 45750422 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:45750422A>G uc002ilt.1 + 13 1922 c.1586A>G c.(1585-1587)TAT>TGT p.Y529C KPNB1_uc010wkw.1_Missense_Mutation_p.Y384C|KPNB1_uc010wkx.1_Missense_Mutation_p.Y313C NM_002265 NP_002256 Q14974 IMB1_HUMAN karyopherin beta 1 529 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein domain specific binding|zinc ion binding ovary(1)|pancreas(1)|skin(1) 3 AGTTCTGCATATGAATCTCTG 0.423 NaN 0 0 0 0.00623 0 39 67 HOXB4 3214 broad.mit.edu 37 17 46654171 46654171 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:46654171C>A uc002inp.2 - 2 731 c.669G>T c.(667-669)TTG>TTT p.L223F HOXB3_uc010wlm.1_Intron|HOXB3_uc010dbf.2_Intron|HOXB3_uc010dbg.2_Intron|HOXB3_uc002ino.2_5'Flank|HOXB3_uc010wlk.1_5'Flank|HOXB3_uc010wll.1_Intron NM_024015 NP_076920 P17483 HXB4_HUMAN homeobox B4 223 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGTGTTGGGCAACTTGTGGT 0.677 NaN 1 0 9.65139e-37 0.01441 1.05423e-36 66 121 HEATR6 63897 broad.mit.edu 37 17 58145064 58145064 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:58145064T>C uc002iyk.1 - 8 986 c.969A>G c.(967-969)CCA>CCG p.P323P HEATR6_uc010ddk.1_5'Flank|HEATR6_uc010wos.1_Silent_p.P155P NM_022070 NP_071353 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 323 Poly-Lys. binding ovary(1)|skin(1) 2 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GGATTTTCTTTGGTTTTACTT 0.413 NaN 0 0 0 0.01441 0 43 99 CDC42EP4 23580 broad.mit.edu 37 17 71281971 71281971 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr17:71281971G>A uc002jjn.2 - 2 816 c.669C>T c.(667-669)AGC>AGT p.S223S CDC42EP4_uc002jjo.2_Silent_p.S223S|CDC42EP4_uc002jjp.1_Silent_p.S153S NM_012121 NP_036253 Q9H3Q1 BORG4_HUMAN Cdc42 effector protein 4 223 positive regulation of pseudopodium assembly|regulation of cell shape actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton GTP-Rho binding 0 LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711) TGTCCATGATGCTGAGGACGT 0.657 NaN 0 0 0 0.01441 0 70 103 LAMA3 3909 broad.mit.edu 37 18 21437915 21437915 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr18:21437915G>A uc002kuq.2 + 33 4330 c.4244G>A c.(4243-4245)GGA>GAA p.G1415E LAMA3_uc002kur.2_Missense_Mutation_p.G1415E NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1415 Laminin EGF-like 12.|Domain III B. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ACTGAGCCAGGAGTGTGTGAC 0.562 NaN 0 0 0 0.01441 0 57 71 ZNF317 57693 broad.mit.edu 37 19 9271246 9271247 + Missense_Mutation DNP GA GA TT TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:9271246_9271247GA>TT uc002mku.2 + 7 1200_1201 c.925_926GA>TT c.(925-927)GAT>TTT p.D309F ZNF317_uc002mkv.2_Missense_Mutation_p.D168F|ZNF317_uc002mkw.2_Missense_Mutation_p.D277F|ZNF317_uc002mkx.2_Missense_Mutation_p.D224F|ZNF317_uc002mky.2_Missense_Mutation_p.D192F NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 309 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TTACAAGTGTGATCAGTGCGGG 0.574 NaN 0 0 0 0.004672 0 38 77 TYK2 7297 broad.mit.edu 37 19 10475635 10475635 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:10475635G>A uc002moc.3 - 8 1479 c.1101C>T c.(1099-1101)GAC>GAT p.D367D TYK2_uc010dxe.2_Silent_p.D182D|TYK2_uc002mod.2_Silent_p.D367D NM_003331 NP_003322 P29597 TYK2_HUMAN tyrosine kinase 2 367 FERM. intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytoskeleton|cytosol|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity lung(5)|large_intestine(2)|ovary(1)|breast(1) 9 OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06) CCCGCGGCCTGTCTGCCGGCT 0.617 NaN 0 0 0 0.014323 0 21 50 COMP 1311 broad.mit.edu 37 19 18896789 18896789 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:18896789T>A uc002nke.2 - 13 1511 c.1475A>T c.(1474-1476)CAG>CTG p.Q492L COMP_uc002nkd.2_Missense_Mutation_p.Q459L|COMP_uc010xqj.1_Missense_Mutation_p.Q439L NM_000095 NP_000086 P49747 COMP_HUMAN cartilage oligomeric matrix protein precursor 492 TSP type-3 7. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding 0 CGCGTCCTCCTGGCCGGGGTT 0.711 NaN 0 0 0 0.008871 0 17 14 ZNF253 56242 broad.mit.edu 37 19 20003518 20003518 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:20003518C>G uc002noj.2 + 4 1554 c.1462C>G c.(1462-1464)CTT>GTT p.L488V ZNF253_uc002nok.2_Missense_Mutation_p.L412V|ZNF253_uc002nol.2_RNA NM_021047 NP_066385 O75346 ZN253_HUMAN zinc finger protein 253 488 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGTGACAGATCTTTTAAATGT 0.358 NaN 0 0 0 0.004672 0 3 121 ZBTB32 27033 broad.mit.edu 37 19 36205902 36205902 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:36205902A>C uc002oay.2 + 2 584 c.374A>C c.(373-375)AAG>ACG p.K125T ZBTB32_uc002oaz.2_RNA NM_014383 NP_055198 Q9Y2Y4 ZBT32_HUMAN zinc finger and BTB domain containing 32 125 DNA repair|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleoplasm DNA binding|protein binding|transcription corepressor activity|zinc ion binding ovary(1)|skin(1) 2 all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CCAGGCCTGAAGAAACATCAG 0.577 NaN 0 0 0 0.007413 0 20 88 HNRNPL 3191 broad.mit.edu 37 19 39329230 39329230 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:39329230T>C uc010xul.1 - 10 1375 c.1364A>G c.(1363-1365)AAG>AGG p.K455R HNRNPL_uc010ege.1_Intron|HNRNPL_uc002ojj.1_Missense_Mutation_p.K111R|HNRNPL_uc002ojo.1_Missense_Mutation_p.K33R|HNRNPL_uc002ojk.2_Missense_Mutation_p.K111R|HNRNPL_uc002ojl.2_Missense_Mutation_p.K111R|HNRNPL_uc010xum.1_Missense_Mutation_p.K322R NM_001533 NP_001524 P14866 HNRPL_HUMAN heterogeneous nuclear ribonucleoprotein L 455 RRM 3. nuclear mRNA splicing, via spliceosome cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding 0 all_cancers(60;6.83e-06)|Ovarian(47;0.0454) Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575) GGCTGGCTGCTTGGAGACACT 0.542 NaN 0 0 0 0.016723 0 11 66 PLEKHG2 64857 broad.mit.edu 37 19 39909602 39909602 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:39909602C>T uc010xuz.1 + 11 1547 c.1222C>T c.(1222-1224)CGC>TGC p.R408C PLEKHG2_uc010xuy.1_Missense_Mutation_p.R349C|PLEKHG2_uc002olj.2_Missense_Mutation_p.R408C|PLEKHG2_uc010xva.1_Missense_Mutation_p.R215C NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN common-site lymphoma/leukemia guanine nucleotide 408 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity skin(2)|pancreas(1)|breast(1) 4 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTGTCTCCAGCGCCTCTTCTT 0.612 NaN 0 0 0 0.01441 0 86 180 C19orf54 284325 broad.mit.edu 37 19 41248527 41248527 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:41248527G>A uc002oou.1 - 6 987 c.867C>T c.(865-867)TCC>TCT p.S289S C19orf54_uc002oow.1_Silent_p.S117S|C19orf54_uc002oox.1_RNA|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_RNA NM_198476 NP_940878 Q5BKX5 CS054_HUMAN hypothetical protein LOC284325 289 0 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) TGCCCTGCTTGGACAGCAGGT 0.657 NaN 0 0 0 0.008291 0 10 34 CEACAM6 4680 broad.mit.edu 37 19 42260767 42260767 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:42260767G>A uc002orm.2 + 2 473 c.324G>A c.(322-324)CTG>CTA p.L108L NM_002483 NP_002474 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion 108 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CATCCCTGCTGATCCAGAACG 0.458 NaN 0 0 0 0.01441 0 166 382 ERCC2 2068 broad.mit.edu 37 19 45856352 45856352 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:45856352C>G uc002pbj.2 - 19 1867 c.1820G>C c.(1819-1821)GGA>GCA p.G607A ERCC2_uc002pbh.2_Missense_Mutation_p.G170A|ERCC2_uc002pbi.2_Missense_Mutation_p.G300A|ERCC2_uc010ejz.2_Missense_Mutation_p.G529A|ERCC2_uc002pbk.2_Missense_Mutation_p.G583A NM_000400 NP_000391 P18074 ERCC2_HUMAN excision repair cross-complementing rodent 607 Mediates interaction with MMS19. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding lung(2)|pancreas(1) 3 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) AAAGTCGATTCCCTCGGACAC 0.642 NaN Mis|N|F|S skin basal cell|skin squamous cell|melanoma Direct_reversal_of_damage|NER Xeroderma_Pigmentosum 0 0 0 0.01441 0 43 109 GIPR 2696 broad.mit.edu 37 19 46172841 46172841 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:46172841G>A uc002pcu.1 + 2 162 c.63G>A c.(61-63)CAG>CAA p.Q21Q GIPR_uc002pct.1_Silent_p.Q21Q|GIPR_uc010xxp.1_Silent_p.Q21Q|GIPR_uc010xxq.1_RNA NM_000164 NP_000155 P48546 GIPR_HUMAN gastric inhibitory polypeptide receptor 21 generation of precursor metabolites and energy|response to nutrient integral to membrane|plasma membrane skin(1) 1 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199) TGCTGCTCCAGAGGGCGGAGG 0.597 NaN 0 0 0 0.00308 0 6 12 SLC6A16 28968 broad.mit.edu 37 19 49797169 49797169 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:49797169G>A uc002pmz.2 - 9 1767 c.1533C>T c.(1531-1533)AGC>AGT p.S511S SLC6A16_uc002pna.2_Silent_p.S511S NM_014037 NP_054756 Q9GZN6 S6A16_HUMAN solute carrier family 6, member 16 511 Helical; Name=8; (Potential). integral to membrane|intracellular neurotransmitter:sodium symporter activity skin(2)|ovary(1)|kidney(1) 4 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336) CTATTGCGCTGCTCAGCCCCA 0.483 NaN 0 0 0 0.01441 0 86 176 VRK3 51231 broad.mit.edu 37 19 50492998 50492998 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:50492998G>A uc002prg.2 - 11 1092 c.994C>T c.(994-996)CGC>TGC p.R332C VRK3_uc002prh.1_Missense_Mutation_p.R332C|VRK3_uc002pri.1_Missense_Mutation_p.R282C|VRK3_uc010ens.2_Missense_Mutation_p.R332C|VRK3_uc010ybl.1_Missense_Mutation_p.R282C|VRK3_uc010ybm.1_Missense_Mutation_p.R101C|VRK3_uc002prj.1_Missense_Mutation_p.R282C|VRK3_uc002prk.1_Missense_Mutation_p.R332C|VRK3_uc010ent.1_Missense_Mutation_p.R88C|VRK3_uc002prl.2_Missense_Mutation_p.R332C|VRK3_uc010ybn.1_3'UTR NM_016440 NP_057524 Q8IV63 VRK3_HUMAN vaccinia related kinase 3 isoform 1 332 Protein kinase. nucleus ATP binding|protein kinase activity stomach(1)|skin(1) 2 all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652) GGGCAATAGCGGAAGGCGAAG 0.552 NaN 0 0 0 0.012319 0 20 28 ZNF813 126017 broad.mit.edu 37 19 53994029 53994029 + Silent SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr19:53994029T>G uc002qbu.2 + 4 671 c.543T>G c.(541-543)TCT>TCG p.S181S ZNF813_uc010eqq.1_Intron NM_001004301 NP_001004301 Q6ZN06 ZN813_HUMAN zinc finger protein 813 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) AAAGAATTTCTTGTAGGCCCA 0.388 NaN 0 0 0 0.011902 0 44 248 PNPT1 87178 broad.mit.edu 37 2 55895071 55895071 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:55895071T>C uc002rzf.2 - 12 1052 c.999A>G c.(997-999)CCA>CCG p.P333P PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 333 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TTATTTCATATGGATCGGCTT 0.274 NaN 0 0 0 0.010818 0 22 61 DYSF 8291 broad.mit.edu 37 2 71795448 71795448 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:71795448G>T uc002sie.2 + 26 3166 c.2790G>T c.(2788-2790)TGG>TGT p.W930C DYSF_uc010feg.2_Missense_Mutation_p.W961C|DYSF_uc010feh.2_Missense_Mutation_p.W916C|DYSF_uc002sig.3_Missense_Mutation_p.W916C|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Missense_Mutation_p.W930C|DYSF_uc010fef.2_Missense_Mutation_p.W947C|DYSF_uc010fei.2_Missense_Mutation_p.W947C|DYSF_uc010fek.2_Missense_Mutation_p.W948C|DYSF_uc010fej.2_Missense_Mutation_p.W917C|DYSF_uc010fel.2_Missense_Mutation_p.W917C|DYSF_uc010feo.2_Missense_Mutation_p.W962C|DYSF_uc010fem.2_Missense_Mutation_p.W931C|DYSF_uc010fen.2_Missense_Mutation_p.W948C|DYSF_uc002sif.2_Missense_Mutation_p.W931C NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 930 Cytoplasmic (Potential). W -> C (in LGMD2B; uncetain pathogenicity). cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 CTGGAGATTGGTTCGTGTGTC 0.647 NaN 1 0 2.56588e-125 0.01441 2.86143e-125 222 460 SLC5A7 60482 broad.mit.edu 37 2 108604766 108604766 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:108604766T>C uc002tdv.2 + 2 431 c.155T>C c.(154-156)TTG>TCG p.L52S SLC5A7_uc010ywm.1_5'UTR|SLC5A7_uc010fjj.2_Missense_Mutation_p.L52S|SLC5A7_uc010ywn.1_Intron NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN solute carrier family 5 (choline transporter), 52 Helical; (Potential). acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity ovary(2)|central_nervous_system(1)|skin(1) 4 Choline(DB00122) ATTGGTTTATTGGTTGGTGGA 0.542 NaN 0 0 0 0.012213 0 30 76 THSD7B 80731 broad.mit.edu 37 2 137814383 137814383 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:137814383G>A uc002tva.1 + 2 440 c.440G>A c.(439-441)CGG>CAG p.R147Q THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.R37Q NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CCTTGTCCCCGGGATTGTGTA 0.498 NaN 0 0 0 0.01441 0 48 324 PKP4 8502 broad.mit.edu 37 2 159519804 159519804 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:159519804C>T uc002tzv.2 + 15 2684 c.2424C>T c.(2422-2424)ATC>ATT p.I808I PKP4_uc002tzu.2_Silent_p.I808I|PKP4_uc002tzw.2_Silent_p.I808I|PKP4_uc002tzx.2_Silent_p.I465I|PKP4_uc002uaa.2_Silent_p.I660I|uc002uab.1_Intron|PKP4_uc002uac.2_5'UTR NM_003628 NP_003619 Q99569 PKP4_HUMAN plakophilin 4 isoform a 808 cell adhesion desmosome protein binding ovary(5)|skin(2) 7 TTGGTCCTATCCCAGGACTGT 0.483 NaN HNSCC(62;0.18) 0 0 0 0.012319 0 21 54 XIRP2 129446 broad.mit.edu 37 2 168104737 168104737 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:168104737G>A uc002udx.2 + 8 6853 c.6835G>A c.(6835-6837)GAG>AAG p.E2279K XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.E2104K|XIRP2_uc010fpq.2_Missense_Mutation_p.E2057K|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 2104 actin cytoskeleton organization cell junction actin binding skin(7)|ovary(6)|pancreas(1) 14 CTTTAACCCTGAGAATAATGT 0.413 NaN 0 0 0 0.017118 0 36 88 TTN 7273 broad.mit.edu 37 2 179616127 179616127 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:179616127T>G uc002unb.2 - 46 11224 c.11000A>C c.(10999-11001)AAA>ACA p.K3667T TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GTAATCTGTTTTCTTGGCAGA 0.363 NaN 0 0 0 0.01441 0 50 106 ADAM23 8745 broad.mit.edu 37 2 207436497 207436497 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:207436497C>A uc002vbq.2 + 17 1836 c.1613C>A c.(1612-1614)GCT>GAT p.A538D ADAM23_uc010ziv.1_RNA NM_003812 NP_003803 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 preproprotein 538 Disintegrin.|Extracellular (Potential). cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding skin(2)|ovary(1) 3 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) TCCAACGGGGCTCACTGCAGC 0.443 NaN 1 0 1.99824e-07 0.00499 2.09667e-07 14 124 ZNF133 7692 broad.mit.edu 37 20 18295856 18295856 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:18295856G>T uc010gcq.2 + 5 666 c.361G>T c.(361-363)GAT>TAT p.D121Y ZNF133_uc010zrv.1_Missense_Mutation_p.D124Y|ZNF133_uc010zrw.1_Missense_Mutation_p.D58Y|ZNF133_uc010gcr.2_Missense_Mutation_p.D121Y|ZNF133_uc010zrx.1_Missense_Mutation_p.D26Y|ZNF133_uc002wql.3_Missense_Mutation_p.D120Y|ZNF133_uc010gcs.2_Missense_Mutation_p.D120Y|ZNF133_uc010zry.1_Missense_Mutation_p.D26Y|ZNF133_uc002wqm.2_Missense_Mutation_p.D121Y NM_003434 NP_003425 P52736 ZN133_HUMAN zinc finger protein 133 121 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|pancreas(1) 2 CCAGCCTGGGGATCCGGGCCC 0.562 NaN 1 0 3.47267e-51 0.01441 3.83254e-51 79 185 POFUT1 23509 broad.mit.edu 37 20 30803206 30803206 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:30803206T>C uc002wxp.2 + 3 430 c.381T>C c.(379-381)TTT>TTC p.F127F POFUT1_uc002wxo.2_Silent_p.F127F|POFUT1_uc010ztt.1_Silent_p.F19F|POFUT1_uc010ztu.1_Intron NM_015352 NP_056167 Q9H488 OFUT1_HUMAN protein O-fucosyltransferase 1 isoform 1 127 fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1) 1 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CATACTGCTTTGAGGTGGCAG 0.602 NaN 0 0 0 0.01441 0 85 180 CDK5RAP1 51654 broad.mit.edu 37 20 31962020 31962020 + Splice_Site SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:31962020T>G uc010gek.2 - 10 1274 c.1150_splice c.e10-1 p.V384_splice CDK5RAP1_uc002wyy.2_Splice_Site_p.V280_splice|CDK5RAP1_uc002wyz.2_Splice_Site_p.V370_splice|CDK5RAP1_uc002wza.2_Splice_Site_p.V370_splice|CDK5RAP1_uc010gel.2_Splice_Site_p.V279_splice|CDK5RAP1_uc010gem.2_Splice_Site_p.V293_splice|CDK5RAP1_uc002wzc.1_Splice_Site_p.V370_splice|CDK5RAP1_uc002wzb.1_5'Flank NM_016408 NP_057492 Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity ovary(2)|skin(2)|lung(1) 5 CTGCAGAACCTGATGAAACAG 0.463 NaN 0 0 0 0.021523 0 27 155 TRPC4AP 26133 broad.mit.edu 37 20 33680620 33680620 + Splice_Site SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:33680620C>T uc002xbk.2 - 1 1 c.-33_splice c.e1-1 TRPC4AP_uc002xbl.2_Splice_Site|TRPC4AP_uc010zur.1_Splice_Site|TRPC4AP_uc002xbm.1_Splice_Site NM_015638 NP_056453 Q8TEL6 TP4AP_HUMAN TRPC4-associated protein isoform a protein ubiquitination|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex protein binding central_nervous_system(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(18;0.00936) CAAGCGGCCTCGGGGCCGCGG 0.746 NaN 0 0 0 0.014758 0 3 10 CPNE1 8904 broad.mit.edu 37 20 34214192 34214192 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr20:34214192T>C uc002xdf.2 - 18 1948 c.1585A>G c.(1585-1587)AAG>GAG p.K529E CPNE1_uc002xdc.2_Missense_Mutation_p.K191E|CPNE1_uc010zvj.1_Missense_Mutation_p.K534E|CPNE1_uc002xde.2_Missense_Mutation_p.K505E|CPNE1_uc002xdg.2_Missense_Mutation_p.K473E|CPNE1_uc010gfi.2_RNA|CPNE1_uc010gfj.2_RNA|CPNE1_uc002xdh.2_Missense_Mutation_p.K529E|CPNE1_uc002xdi.2_Missense_Mutation_p.K529E|CPNE1_uc002xdj.2_Missense_Mutation_p.K529E|CPNE1_uc002xdk.2_Missense_Mutation_p.K529E|CPNE1_uc002xdl.2_Missense_Mutation_p.K529E|CPNE1_uc002xdm.2_Missense_Mutation_p.K529E NM_152931 NP_690908 Q99829 CPNE1_HUMAN copine I isoform a 529 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity upper_aerodigestive_tract(1) 1 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) GCAGGATCCTTGGCTGAGGGT 0.627 NaN 0 0 0 0.01441 0 88 207 ICOSLG 23308 broad.mit.edu 37 21 45651249 45651249 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr21:45651249A>C uc002zee.2 - 5 910 c.776T>G c.(775-777)ATC>AGC p.I259S ICOSLG_uc011afc.1_Missense_Mutation_p.I169S|ICOSLG_uc002zef.2_Missense_Mutation_p.I142S|ICOSLG_uc010gpp.1_Missense_Mutation_p.I259S NM_015259 NP_056074 O75144 ICOSL_HUMAN inducible T-cell co-stimulator ligand precursor 259 Helical; (Potential). B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation receptor binding 0 Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772) GACAGCCAGGATGCTCCACGT 0.562 NaN 0 0 0 0.009535 0 25 45 EP300 2033 broad.mit.edu 37 22 41489057 41489057 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:41489057A>G uc003azl.3 + 1 444 c.49A>G c.(49-51)AAA>GAA p.K17E NM_001429 NP_001420 Q09472 EP300_HUMAN E1A binding protein p300 17 Interaction with ALX1.|Nuclear localization signal (Potential). apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(22)|large_intestine(13)|breast(9)|central_nervous_system(5)|upper_aerodigestive_tract(4)|pancreas(4)|lung(3)|ovary(2)|stomach(1)|skin(1) 64 CAAGCGGCCTAAACTCTCATC 0.552 NaN T| N|F|Mis|O MLL|RUNXBP2 colorectal|breast|pancreatic|AML|ALL|DLBCL Rubinstein-Taybi_syndrome 0 0 0 0.01441 0 75 132 ACO2 50 broad.mit.edu 37 22 41865168 41865168 + Silent SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:41865168A>G uc003bac.2 + 1 40 c.18A>G c.(16-18)CTA>CTG p.L6L PHF5A_uc003bab.2_5'Flank|ACO2_uc003bad.2_Silent_p.L6L NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 6 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CCTACAGCCTACTGGTGACTC 0.647 NaN 0 0 0 0.01892 0 22 108 GTSE1 51512 broad.mit.edu 37 22 46704392 46704392 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:46704392C>T uc011aqy.1 + 4 526 c.314C>T c.(313-315)GCT>GTT p.A105V GTSE1_uc011aqz.1_5'UTR NM_016426 NP_057510 Q9NYZ3 GTSE1_HUMAN G-2 and S-phase expressed 1 86 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process cytoplasmic microtubule ovary(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00462) TACAAAGAAGCTCACTTACTG 0.567 NaN 0 0 0 0.005443 0 28 133 CPT1B 1375 broad.mit.edu 37 22 51007850 51007850 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr22:51007850T>A uc003bmk.3 - 18 2398 c.2236A>T c.(2236-2238)AAC>TAC p.N746Y CPT1B_uc003bml.2_Missense_Mutation_p.N746Y|CPT1B_uc003bmm.2_Missense_Mutation_p.N746Y|CPT1B_uc003bmo.2_Missense_Mutation_p.N746Y|CPT1B_uc011asa.1_Missense_Mutation_p.N712Y|CPT1B_uc003bmn.2_Missense_Mutation_p.N746Y|CPT1B_uc011asb.1_Missense_Mutation_p.N665Y|CHKB-CPT1B_uc003bmp.2_Missense_Mutation_p.N541Y|uc003bmr.1_5'Flank NM_001145137 NP_001138609 Q92523 CPT1B_HUMAN carnitine palmitoyltransferase 1B isoform a 746 Cytoplasmic (Potential). carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity ovary(1)|central_nervous_system(1) 2 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207) CGCTGGGCGTTCTGTGGGAGC 0.537 NaN 0 0 0 0.008871 0 21 98 SUMF1 285362 broad.mit.edu 37 3 4508955 4508955 + Splice_Site SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:4508955G>C uc003bpz.1 - 1 1 c.-24_splice c.e1-1 SUMF1_uc003bps.1_Splice_Site|SUMF1_uc011ass.1_Splice_Site|SUMF1_uc010hby.1_Splice_Site|SUMF1_uc011ast.1_Splice_Site NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 isoform 1 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity upper_aerodigestive_tract(1) 1 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) ATGTGACCCGGTTGGTCACGT 0.577 NaN 0 0 0 0.014758 0 5 16 MYRIP 25924 broad.mit.edu 37 3 40192632 40192632 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:40192632C>T uc003cka.2 + 4 561 c.426C>T c.(424-426)TAC>TAT p.Y142Y MYRIP_uc010hhu.2_RNA|MYRIP_uc010hhv.2_Silent_p.Y142Y|MYRIP_uc010hhw.2_Intron|MYRIP_uc010hhx.1_Silent_p.Y142Y|MYRIP_uc011ayz.1_5'UTR NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN myosin VIIA and Rab interacting protein 142 intracellular protein transport actin binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) AGAACCTGTACAGGAAGCACC 0.552 NaN 0 0 0 0.010729 0 8 24 VIPR1 7433 broad.mit.edu 37 3 42577695 42577695 + Silent SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:42577695G>T uc003clf.2 + 13 1420 c.1296G>T c.(1294-1296)ACG>ACT p.T432T VIPR1_uc011azl.1_Silent_p.T384T|VIPR1_uc011azm.1_Silent_p.T222T|VIPR1_uc011azn.1_Silent_p.T405T|VIPR1_uc003clg.2_Silent_p.T77T NM_004624 NP_004615 P32241 VIPR1_HUMAN vasoactive intestinal peptide receptor 1 432 Cytoplasmic (Potential). digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission integral to plasma membrane vasoactive intestinal polypeptide receptor activity skin(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.241) CGTGCAGCACGCAGGTTTCCA 0.692 NaN 1 0 0.00909568 0.009096 0.00931433 4 15 BAP1 8314 broad.mit.edu 37 3 52440379 52440379 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:52440379C>G uc003ddx.2 - 9 788 c.673G>C c.(673-675)GAC>CAC p.D225H BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 225 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) AAGCGGATGTCGTGGTAGGGC 0.632 NaN N|Mis|F|S|O uveal melanoma|breast|NSCLC 0 0 0 0.00632 0 25 21 TPRA1 131601 broad.mit.edu 37 3 127294260 127294260 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:127294260G>A uc003ejl.2 - 8 1050 c.759C>T c.(757-759)ATC>ATT p.I253I TPRA1_uc003ejm.2_RNA|TPRA1_uc003ejo.2_Silent_p.I253I|TPRA1_uc010hsk.2_Intron|TPRA1_uc003ejn.2_Silent_p.I253I NM_016372 NP_057456 Q86W33 TPRA1_HUMAN G protein-coupled receptor 175 isoform 1 253 Helical; Name=6; (Potential). aging|lipid metabolic process integral to membrane G-protein coupled receptor activity 0 GCCCCTCGATGATGTCGAAGC 0.682 NaN OREG0015772 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 6 22 COL6A6 131873 broad.mit.edu 37 3 130292969 130292969 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:130292969C>A uc010htl.2 + 7 3178 c.3147C>A c.(3145-3147)CAC>CAA p.H1049Q NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1049 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ATACCTATCACCCGGAGTTTC 0.433 NaN 1 0 1.10513e-12 0.014323 1.17697e-12 24 56 DNAJC13 23317 broad.mit.edu 37 3 132247081 132247081 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:132247081A>G uc003eor.2 + 54 6495 c.6430A>G c.(6430-6432)ATT>GTT p.I2144V NM_015268 NP_056083 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 2144 heat shock protein binding ovary(1)|breast(1) 2 ACTCGAAGGCATTGGCCTTGA 0.418 NaN 0 0 0 0.009535 0 33 78 SKIL 6498 broad.mit.edu 37 3 170079087 170079087 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr3:170079087C>T uc003fgu.2 + 2 1680 c.968C>T c.(967-969)GCT>GTT p.A323V SKIL_uc011bps.1_Missense_Mutation_p.A303V|SKIL_uc003fgv.2_Missense_Mutation_p.A323V|SKIL_uc003fgw.2_Missense_Mutation_p.A323V NM_005414 NP_005405 P12757 SKIL_HUMAN SKI-like isoform 1 323 cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development cytoplasm|PML body chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity ovary(2)|skin(1) 3 all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197) TTTGAATCAGCTAAATGGCAT 0.398 NaN 0 0 0 0.005524 0 34 196 LETM1 3954 broad.mit.edu 37 4 1824768 1824768 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:1824768C>T uc003gdv.2 - 9 1720 c.1423G>A c.(1423-1425)GCC>ACC p.A475T NM_012318 NP_036450 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane 475 Mitochondrial matrix (Potential).|Potential. cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding central_nervous_system(1) 1 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) TGCTGGATGGCCGCCTCCTCC 0.652 NaN 0 0 0 0.016723 0 14 106 PGM2 55276 broad.mit.edu 37 4 37850207 37850207 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:37850207G>A uc011byb.1 + 11 1420 c.1347G>A c.(1345-1347)GAG>GAA p.E449E PGM2_uc011byc.1_Silent_p.E289E NM_018290 NP_060760 Q96G03 PGM2_HUMAN phosphoglucomutase 2 449 glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity ovary(1) 1 TAAGTGCAGAGTTGGCTAGCT 0.408 NaN 0 0 0 0.01441 0 58 85 UGT2A3 79799 broad.mit.edu 37 4 69817427 69817427 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:69817427C>T uc003hef.2 - 1 83 c.52G>A c.(52-54)GTT>ATT p.V18I UGT2A3_uc010ihp.1_RNA NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN UDP glucuronosyltransferase 2 family, 18 integral to membrane glucuronosyltransferase activity ovary(1)|skin(1) 2 CCACAGCCAACACAGAAGAGC 0.478 NaN 0 0 0 0.013726 0 18 65 UGT2B7 7364 broad.mit.edu 37 4 69962362 69962362 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:69962362A>G uc003heg.3 + 1 170 c.124A>G c.(124-126)ATC>GTC p.I42V UGT2B7_uc010ihq.2_Missense_Mutation_p.I42V NM_001074 NP_001065 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2B7 precursor 42 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity ovary(1)|skin(1) 2 TATAAAGACAATCCTGGATGA 0.418 NaN 0 0 0 0.01441 0 64 141 HNRPDL 9987 broad.mit.edu 37 4 83347685 83347685 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:83347685C>T uc003hmr.2 - 6 1658 c.1123G>A c.(1123-1125)GGC>AGC p.G375S HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Intron NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 375 Tyr-rich.|Necessary for interaction with TNPO1.|Gly-rich. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) TCATATCCGCCATAGCCACTA 0.353 NaN 0 0 0 0.009535 0 26 75 MYOZ2 51778 broad.mit.edu 37 4 120107259 120107259 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:120107259T>C uc003icp.3 + 6 912 c.699T>C c.(697-699)AAT>AAC p.N233N NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 233 protein phosphatase 2B binding 0 GGTCCTTTAATAGGACTCCTA 0.393 NaN 0 0 0 0.014323 0 22 72 MYOZ2 51778 broad.mit.edu 37 4 120107338 120107338 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:120107338G>C uc003icp.3 + 6 991 c.778G>C c.(778-780)GAA>CAA p.E260Q NM_016599 NP_057683 Q9NPC6 MYOZ2_HUMAN myozenin 2 260 protein phosphatase 2B binding 0 CACTGTACCAGAATCAGAAGA 0.383 NaN 0 0 0 0.020292 0 14 48 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:153247289G>C uc003ims.2 - 10 1662 c.1513C>G c.(1513-1515)CGC>GGC p.R505G FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G NM_033632 NP_361014 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7 isoform 505 WD 4. R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex protein binding|protein binding p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1) haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1) 308 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468 NaN Mis|N|D|F colorectal|endometrial|T-ALL 0 0 0 0.010504 0 21 107 WWC2 80014 broad.mit.edu 37 4 184114848 184114848 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr4:184114848C>G uc010irx.2 + 2 410 c.228C>G c.(226-228)ATC>ATG p.I76M WWC2_uc003ivk.3_Translation_Start_Site NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN WW and C2 domain containing 2 76 WW 2. ovary(2)|lung(1) 3 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) TCTACTACATCGATCACATCA 0.423 NaN 0 0 0 0.00499 0 16 38 ZDHHC11 79844 broad.mit.edu 37 5 837498 837498 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:837498C>T uc011cma.1 - 6 1266 c.882G>A c.(880-882)ATG>ATA p.M294I ZDHHC11_uc003jbj.2_RNA|ZDHHC11_uc010itd.1_RNA NM_024786 NP_079062 Q9H8X9 ZDH11_HUMAN zinc finger, DHHC-type containing 11 294 integral to membrane acyltransferase activity|zinc ion binding skin(1)|pancreas(1) 2 Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863) CTCCTTTGTCCATTTGCACGT 0.483 NaN 0 0 0 0.01441 0 53 307 C5orf42 65250 broad.mit.edu 37 5 37183002 37183002 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:37183002C>T uc011cpa.1 - 26 5512 c.5281G>A c.(5281-5283)GAT>AAT p.D1761N C5orf42_uc011coy.1_Missense_Mutation_p.D262N|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Missense_Mutation_p.D836N|C5orf42_uc011cpb.1_Missense_Mutation_p.D642N NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1761 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATACCAGAATCACAGAGTAGC 0.413 NaN 0 0 0 0.013114 0 44 74 NUP155 9631 broad.mit.edu 37 5 37293028 37293028 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:37293028T>C uc003jku.1 - 34 4108 c.3990A>G c.(3988-3990)TTA>TTG p.L1330L NUP155_uc003jkt.1_Silent_p.L1271L|NUP155_uc010iuz.1_Silent_p.L1266L NM_153485 NP_705618 O75694 NU155_HUMAN nucleoporin 155kDa isoform 1 1330 carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore protein binding|structural constituent of nuclear pore|transporter activity ovary(1) 1 all_lung(31;0.000137) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCTTATCAATAATACATGTA 0.313 NaN 0 0 0 0.01441 0 69 137 SKIV2L2 23517 broad.mit.edu 37 5 54649078 54649078 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:54649078A>T uc003jpy.3 + 14 1780 c.1514A>T c.(1513-1515)GAT>GTT p.D505V SKIV2L2_uc011cqi.1_Missense_Mutation_p.D404V NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 505 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding ovary(1)|skin(1) 2 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) CGCAAATTTGATGGGAAGGAT 0.333 NaN 0 0 0 0.014323 0 21 134 FAM169A 26049 broad.mit.edu 37 5 74077398 74077398 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:74077398C>A uc003kdm.2 - 13 1943 c.1900G>T c.(1900-1902)GAT>TAT p.D634Y FAM169A_uc010izm.2_Missense_Mutation_p.D574Y|FAM169A_uc003kdl.2_Missense_Mutation_p.D452Y NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 634 0 GAGCTGCTATCCACAGCTTTT 0.458 NaN 1 0 1.27862e-28 0.01441 1.38952e-28 59 204 TMCO6 55374 broad.mit.edu 37 5 140024591 140024591 + Nonsense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:140024591C>T uc003lgl.2 + 12 1491 c.1390C>T c.(1390-1392)CAG>TAG p.Q464* TMCO6_uc003lgm.2_Nonsense_Mutation_p.Q470*|TMCO6_uc010jft.2_Nonsense_Mutation_p.Q224*|TMCO6_uc003lgn.2_Nonsense_Mutation_p.Q355*|TMCO6_uc003lgo.2_Nonsense_Mutation_p.Q224*|IK_uc011czk.1_5'Flank|IK_uc003lgq.2_5'Flank NM_018502 NP_060972 Q96DC7 TMCO6_HUMAN transmembrane and coiled-coil domains 6 464 protein import into nucleus cytoplasm|nuclear pore binding|protein transporter activity 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCTGCAGCAGTCAGGGCT 0.542 NaN 0 0 0 0.01441 0 97 144 PCDHAC1 56135 broad.mit.edu 37 5 140308488 140308488 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:140308488T>C uc003lih.2 + 1 2187 c.2011T>C c.(2011-2013)TGG>CGG p.W671R 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_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Missense_Mutation_p.W671R NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 671 Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGAAGATGTCTGGGAACCAGG 0.483 NaN 0 0 0 0.01441 0 58 241 CSF1R 1436 broad.mit.edu 37 5 149460456 149460456 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:149460456A>G uc003lrl.2 - 2 376 c.181T>C c.(181-183)TAC>CAC p.Y61H CSF1R_uc011dcd.1_5'UTR|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Y61H|CSF1R_uc011dce.1_Missense_Mutation_p.Y61H|CSF1R_uc011dcf.1_Missense_Mutation_p.Y61H NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 61 Ig-like C2-type 1.|Extracellular (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity p.Y61Y(2) haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) CCATCAGAGTACAGGGTCCAG 0.612 NaN 0 0 0 0.004007 0 15 51 SLC36A1 206358 broad.mit.edu 37 5 150844717 150844717 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:150844717G>A uc003luc.2 + 5 623 c.406G>A c.(406-408)GCA>ACA p.A136T GM2A_uc011dcs.1_Intron|SLC36A1_uc003lub.1_Missense_Mutation_p.A136T|SLC36A1_uc010jhw.1_Missense_Mutation_p.A136T NM_078483 NP_510968 Q7Z2H8 S36A1_HUMAN solute carrier family 36 member 1 136 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity skin(1) 1 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) CCGGAACCACGCACACTGGGG 0.493 NaN 0 0 0 0.019004 0 31 84 NSD1 64324 broad.mit.edu 37 5 176562709 176562709 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:176562709G>A uc003mfr.3 + 2 743 c.605G>A c.(604-606)GGT>GAT p.G202D NSD1_uc003mft.3_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.G202D|NSD1_uc011dfx.1_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.G202D|NSD1_uc003mfq.2_Missense_Mutation_p.G202D NM_022455 NP_071900 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 202 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding ovary(2)|kidney(1) 3 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TCAGAGAATGGTGTAAAAGTG 0.468 NaN T NUP98 AML Sotos Syndrome Beckwith-Wiedemann_syndrome|Sotos_syndrome|Weaver_syndrome HNSCC(47;0.14) 0 0 0 0.01441 0 58 100 MGAT1 4245 broad.mit.edu 37 5 180219243 180219243 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:180219243G>T uc003mmg.3 - 2 1224 c.729C>A c.(727-729)GAC>GAA p.D243E MGAT1_uc010jlf.2_Missense_Mutation_p.D243E|MGAT1_uc010jlg.2_Missense_Mutation_p.D243E|MGAT1_uc003mmh.3_Missense_Mutation_p.D243E|MGAT1_uc010jlh.2_Missense_Mutation_p.D243E|MGAT1_uc003mmi.3_Missense_Mutation_p.D243E NM_002406 NP_002397 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein 243 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(1) 1 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCTTGCCGTTGTCATTCCAGG 0.642 NaN 1 0 8.12818e-05 0.001984 8.40438e-05 7 140 OR2V2 285659 broad.mit.edu 37 5 180581946 180581946 + Missense_Mutation SNP G G C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr5:180581946G>C uc011dhj.1 + 1 4 c.4G>C c.(4-6)GAG>CAG p.E2Q NM_206880 NP_996763 Q96R30 OR2V2_HUMAN olfactory receptor, family 2, subfamily V, 2 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1) 2 all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCGAGCCATGGAGACGTGGGT 0.493 NaN 0 0 0 0.01441 0 72 109 CAP2 10486 broad.mit.edu 37 6 17539634 17539634 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:17539634T>C uc003ncb.2 + 8 1014 c.771T>C c.(769-771)TCT>TCC p.S257S CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Silent_p.S231S|CAP2_uc011djb.1_Silent_p.S193S|CAP2_uc011djc.1_Silent_p.S145S|CAP2_uc011djd.1_Intron NM_006366 NP_006357 P40123 CAP2_HUMAN adenylyl cyclase-associated protein 2 257 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding ovary(1) 1 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AGGAATCTTCTCCTTCACGCT 0.522 NaN 0 0 0 0.001168 0 6 117 GPX6 257202 broad.mit.edu 37 6 28474199 28474199 + Missense_Mutation SNP A A C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:28474199A>C uc011dlj.1 - 4 299 c.249T>G c.(247-249)AAT>AAG p.N83K GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 83 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) CCTGTAGTGCATTCAGTTCTG 0.443 NaN 0 0 0 0.012319 0 20 119 BTNL2 56244 broad.mit.edu 37 6 32372796 32372796 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:32372796G>A uc003obg.1 - 2 347 c.347C>T c.(346-348)CCC>CTC p.P116L BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron NM_019602 NP_062548 Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 116 Ig-like V-type 1.|Extracellular (Potential). integral to membrane central_nervous_system(1) 1 ATTGTCGGAGGGCTGGATGTT 0.488 NaN 0 0 0 0.021022 0 36 179 ZBTB22 9278 broad.mit.edu 37 6 33284382 33284382 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:33284382G>A uc003oeb.2 - 2 464 c.312C>T c.(310-312)GCC>GCT p.A104A TAPBP_uc003odx.1_5'Flank|TAPBP_uc010jus.1_5'Flank|TAPBP_uc003ody.2_5'Flank|TAPBP_uc003odz.2_5'Flank|TAPBP_uc010jut.1_5'Flank|TAPBP_uc011drc.1_5'Flank|ZBTB22_uc010juu.2_Silent_p.A104A NM_005453 NP_005444 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 104 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CAGTCTCAAAGGCGCCTGGGT 0.577 NaN 0 0 0 0.01441 0 52 210 SLC17A5 26503 broad.mit.edu 37 6 74331540 74331540 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:74331540A>G uc003phn.3 - 7 1093 c.965T>C c.(964-966)TTC>TCC p.F322S SLC17A5_uc010kax.2_Intron|SLC17A5_uc010kay.2_RNA|SLC17A5_uc011dyo.1_Missense_Mutation_p.F191S NM_012434 NP_036566 Q9NRA2 S17A5_HUMAN sialin 322 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity skin(5)|central_nervous_system(1) 6 TTGAACATTGAACCTTAGGAT 0.313 NaN 0 0 0 0.013537 0 12 36 SIM1 6492 broad.mit.edu 37 6 100868687 100868688 + Nonsense_Mutation DNP GG GG TC TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:100868687_100868688GG>TC uc003pqj.3 - 9 1352_1353 c.1145_1146CC>GA c.(1144-1146)TCC>TGA p.S382* SIM1_uc010kcu.2_Nonsense_Mutation_p.S382* NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 382 Single-minded C-terminal.|Nuclear localization signal (By similarity). cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GGGAAGTCCTGGATTTTGACTT 0.47 NaN 0 0 0 0.004672 0 47 84 RAET1G 353091 broad.mit.edu 37 6 150240778 150240778 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:150240778C>A uc010kii.1 - 2 328 c.260G>T c.(259-261)TGG>TTG p.W87L RAET1G_uc003qnm.2_RNA NM_001001788 NP_001001788 Q6H3X3 RET1G_HUMAN retinoic acid early transcript 1G precursor 87 MHC class I alpha-1 like.|Extracellular (Potential). antigen processing and presentation|immune response integral to membrane|MHC class I protein complex protein binding 0 Ovarian(120;0.0907) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.73e-12) CTGTGCTTTCCAGGCCGTTGT 0.488 NaN 1 0 3.36649e-63 0.01441 3.7347e-63 125 181 ARID1B 57492 broad.mit.edu 37 6 157521944 157521944 + Missense_Mutation SNP C C G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:157521944C>G uc003qqn.2 + 18 4314 c.4162C>G c.(4162-4164)CAG>GAG p.Q1388E ARID1B_uc003qqo.2_Missense_Mutation_p.Q1348E|ARID1B_uc003qqp.2_Missense_Mutation_p.Q1335E NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 1393 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GATGTACAACCAGTATGGAGG 0.632 NaN 0 0 0 0.010504 0 20 108 FAM126A 84668 broad.mit.edu 37 7 22985595 22985595 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:22985595T>C uc003svm.3 - 11 1434 c.1179A>G c.(1177-1179)GAA>GAG p.E393E FAM126A_uc003svn.3_3'UTR NM_032581 NP_115970 Q9BYI3 HYCCI_HUMAN family with sequence similarity 126, member A 393 cytoplasm|membrane signal transducer activity central_nervous_system(1) 1 TAGTTTCTTTTTCTTTTCCTC 0.418 NaN 0 0 0 0.01441 0 113 195 GLI3 2737 broad.mit.edu 37 7 42004980 42004980 + Missense_Mutation SNP G G T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:42004980G>T uc011kbh.1 - 15 3782 c.3691C>A c.(3691-3693)CTC>ATC p.L1231I GLI3_uc011kbg.1_Missense_Mutation_p.L1172I NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1231 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 CTGTTGTGGAGCATCAAGTGC 0.632 NaN Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 1 0 1.41504e-22 0.011902 1.52996e-22 41 94 OGDH 4967 broad.mit.edu 37 7 44736651 44736651 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:44736651G>A uc003tln.2 + 15 2148 c.2039G>A c.(2038-2040)CGG>CAG p.R680Q OGDH_uc011kbx.1_Missense_Mutation_p.R676Q|OGDH_uc011kby.1_Missense_Mutation_p.R530Q|OGDH_uc003tlp.2_Missense_Mutation_p.R691Q|OGDH_uc011kbz.1_Missense_Mutation_p.R475Q|OGDH_uc003tlo.1_Missense_Mutation_p.R513Q NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 680 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) GACGTGGAGCGGGGCACATTC 0.557 NaN 0 0 0 0.007413 0 17 108 ABCA13 154664 broad.mit.edu 37 7 48284188 48284188 + Nonsense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:48284188G>A uc003toq.2 + 11 1303 c.1278G>A c.(1276-1278)TGG>TGA p.W426* ABCA13_uc010kyr.2_5'UTR NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 426 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 AGCATCTGTGGAAATTGCAAA 0.393 NaN 0 0 0 0.001168 0 6 47 LUC7L2 51631 broad.mit.edu 37 7 139092032 139092032 + Missense_Mutation SNP A A T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:139092032A>T uc003vux.2 + 6 997 c.623A>T c.(622-624)GAT>GTT p.D208V LUC7L2_uc011kqs.1_Missense_Mutation_p.D205V|LUC7L2_uc011kqt.1_Missense_Mutation_p.D274V|LUC7L2_uc003vuy.2_Missense_Mutation_p.D207V|LUC7L2_uc003vuz.1_Missense_Mutation_p.D155V|LUC7L2_uc003vva.2_Missense_Mutation_p.D155V NM_016019 NP_057103 Q9Y383 LC7L2_HUMAN LUC7-like 2 208 C2H2-type; atypical. enzyme binding|metal ion binding 0 Melanoma(164;0.242) CGACTGGCTGATCATTTTGGG 0.398 NaN 0 0 0 0.00632 0 24 108 ABP1 26 broad.mit.edu 37 7 150554592 150554592 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:150554592G>A uc003why.1 + 3 5252 c.1034G>A c.(1033-1035)CGC>CAC p.R345H ABP1_uc003whz.1_Missense_Mutation_p.R345H|ABP1_uc003wia.1_Missense_Mutation_p.R345H NM_001091 NP_001082 P19801 ABP1_HUMAN amiloride binding protein 1 precursor 345 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding ovary(2)|breast(2)|skin(2) 6 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) GGCGGAGAGCGCATTGCCTAT 0.642 NaN 0 0 0 0.014758 0 5 96 MYST3 7994 broad.mit.edu 37 8 41794882 41794882 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:41794882T>C uc010lxb.2 - 17 3788 c.3244A>G c.(3244-3246)AGA>GGA p.R1082G MYST3_uc010lxc.2_Missense_Mutation_p.R1082G|MYST3_uc003xon.3_Missense_Mutation_p.R1082G NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 1082 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) AAGTATTCTCTAGGGAAAAGT 0.428 NaN 0 0 0 0.00874 0 43 59 ATP6V1H 51606 broad.mit.edu 37 8 54745612 54745612 + Missense_Mutation SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:54745612T>A uc003xrl.2 - 3 300 c.148A>T c.(148-150)ATT>TTT p.I50F ATP6V1H_uc003xrk.2_Missense_Mutation_p.I10F|ATP6V1H_uc003xrm.2_Missense_Mutation_p.I50F|ATP6V1H_uc003xrn.2_Missense_Mutation_p.I50F|ATP6V1H_uc011ldv.1_Intron|ATP6V1H_uc010lyd.2_Intron|ATP6V1H_uc003xro.1_Missense_Mutation_p.I47F NM_213620 NP_998785 Q9UI12 VATH_HUMAN ATPase, H+ transporting, lysosomal 50/57kDa, V1 50 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism 0 all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181) OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359) AACCTCTGAATAAACTCACAA 0.368 NaN 0 0 0 0.01441 0 79 77 MOS 4342 broad.mit.edu 37 8 57026488 57026488 + Silent SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:57026488C>T uc011leb.1 - 1 54 c.54G>A c.(52-54)TCG>TCA p.S18S NM_005372 NP_005363 P00540 MOS_HUMAN v-mos Moloney murine sarcoma viral oncogene 18 ATP binding|protein binding|protein serine/threonine kinase activity lung(2)|ovary(1)|central_nervous_system(1) 4 Epithelial(17;0.00117)|all cancers(17;0.00879) GCGCGTCCACCGATGGGGAAA 0.697 NaN 0 0 0 0.003163 0 12 35 TRPS1 7227 broad.mit.edu 37 8 116632282 116632282 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:116632282C>T uc003ynz.2 - 2 463 c.4G>A c.(4-6)GTC>ATC p.V2I TRPS1_uc011lhy.1_Missense_Mutation_p.V6I|TRPS1_uc003yny.2_Missense_Mutation_p.V15I|TRPS1_uc010mcy.2_Missense_Mutation_p.V2I NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 2 negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TTTTTCCGGACCATATCTGCA 0.408 NaN Langer-Giedion_syndrome 0 0 0 0.020292 0 14 87 COL22A1 169044 broad.mit.edu 37 8 139620181 139620181 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:139620181G>A uc003yvd.2 - 57 4477 c.4030C>T c.(4030-4032)CCT>TCT p.P1344S COL22A1_uc011ljo.1_Missense_Mutation_p.P624S NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1344 Pro-rich.|Gly-rich.|Collagen-like 13. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) GAACTCACAGGGGTTCCTGAA 0.512 NaN HNSCC(7;0.00092) 0 0 0 0.00632 0 27 68 KCNV2 169522 broad.mit.edu 37 9 2718088 2718088 + Missense_Mutation SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:2718088G>A uc003zho.1 + 1 563 c.349G>A c.(349-351)GGC>AGC p.G117S NM_133497 NP_598004 Q8TDN2 KCNV2_HUMAN potassium channel, subfamily V, member 2 117 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GBM - Glioblastoma multiforme(50;0.0257) CGAGCTGGCCGGCTTCCCCAA 0.667 NaN 0 0 0 0.009096 0 4 19 DENND4C 55667 broad.mit.edu 37 9 19296129 19296129 + Missense_Mutation SNP A A G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:19296129A>G uc003znq.2 + 2 250 c.217A>G c.(217-219)ACA>GCA p.T73A DENND4C_uc011lnc.1_Translation_Start_Site NM_017925 NP_060395 Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 73 DENN. integral to membrane ovary(1)|skin(1) 2 ATCCATCAATACAAACAAATG 0.393 NaN 0 0 0 0.01441 0 87 169 GNA14 9630 broad.mit.edu 37 9 80262686 80262686 + Silent SNP G G A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:80262686G>A uc004aku.2 - 1 547 c.24C>T c.(22-24)TCC>TCT p.S8S NM_004297 NP_004288 O95837 GNA14_HUMAN G alpha 14 8 activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation heterotrimeric G-protein complex G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity ovary(2) 2 TCTCCTCCGCGGACAGGCAGC 0.711 NaN 0 0 0 0.008291 0 9 14 AGTPBP1 23287 broad.mit.edu 37 9 88257814 88257814 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:88257814T>C uc011ltd.1 - 12 1263 c.1230A>G c.(1228-1230)CAA>CAG p.Q410Q AGTPBP1_uc004aod.3_Silent_p.Q36Q|AGTPBP1_uc011ltc.1_Silent_p.Q308Q|AGTPBP1_uc010mqc.2_Silent_p.Q370Q|AGTPBP1_uc011lte.1_Silent_p.Q422Q NM_015239 NP_056054 Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 410 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(4)|large_intestine(2)|skin(1) 7 GTCCCGGTTCTTGCTGGGGTT 0.294 NaN 0 0 0 0.006122 0 19 78 KIF12 113220 broad.mit.edu 37 9 116856478 116856478 + Silent SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:116856478T>C uc004bif.2 - 10 1120 c.882A>G c.(880-882)CTA>CTG p.L294L KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 427 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 TCTCATTCTCTAGCATGAACT 0.627 NaN 0 0 0 0.010504 0 19 90 PNPLA7 375775 broad.mit.edu 37 9 140444633 140444633 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:140444633T>C uc004cnf.2 - 1 354 c.17A>G c.(16-18)GAT>GGT p.D6G PNPLA7_uc010ncj.1_Missense_Mutation_p.D6G|MRPL41_uc004cnh.3_5'Flank NM_152286 NP_689499 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 6 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity skin(1) 1 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TGGGCTGTCATCTTTCTCTTC 0.547 NaN 0 0 0 0.013726 0 30 169 BMX 660 broad.mit.edu 37 X 15574250 15574250 + Missense_Mutation SNP C C T TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chrX:15574250C>T uc004cww.2 + 19 2196 c.2008C>T c.(2008-2010)CGG>TGG p.R670W BMX_uc004cwx.3_Missense_Mutation_p.R670W|BMX_uc004cwy.3_Missense_Mutation_p.R670W NM_203281 NP_975010 P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 670 Protein kinase. R -> W (in a lung large cell carcinoma sample; somatic mutation). cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.R670W(2) lung(3)|ovary(2) 5 Hepatocellular(33;0.183) TGAACCACTTCGGGAAAAAGA 0.383 NaN 0 0 0 0.01441 0 56 127 ACE2 59272 broad.mit.edu 37 X 15599440 15599440 + Missense_Mutation SNP T T G TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chrX:15599440T>G uc004cxa.1 - 8 1142 c.974A>C c.(973-975)CAA>CCA p.Q325P ACE2_uc004cxb.2_Missense_Mutation_p.Q325P NM_021804 NP_068576 Q9BYF1 ACE2_HUMAN angiotensin I converting enzyme 2 precursor 325 Extracellular (Potential). angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding ovary(3) 3 Hepatocellular(33;0.183) Moexipril(DB00691) CCAGAATCCTTGAGTCATATT 0.478 NaN 0 0 0 0.01441 0 115 81 NKRF 55922 broad.mit.edu 37 X 118723319 118723319 + Missense_Mutation SNP T T C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chrX:118723319T>C uc004erq.2 - 2 2722 c.2069A>G c.(2068-2070)AAT>AGT p.N690S NKRF_uc004err.2_Missense_Mutation_p.N690S NM_017544 NP_060014 O15226 NKRF_HUMAN transcription factor NRF 690 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding ovary(1)|central_nervous_system(1) 2 AAGATCTCAATTTGCTTGAGG 0.383 NaN 0 0 0 0.01441 0 48 25 EXOSC10 5394 broad.mit.edu 37 1 11141199 11141200 + Frame_Shift_Ins INS - - C TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:11141199_11141200insC uc001asa.2 - 11 1426_1427 c.1376_1377insG c.(1375-1377)GGCfs p.G459fs EXOSC10_uc001asb.2_Frame_Shift_Ins_p.G459fs|EXOSC10_uc009vmy.1_Frame_Shift_Ins_p.G459fs NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN exosome component 10 isoform 1 459 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding upper_aerodigestive_tract(1) 1 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) GCTGCCCGTTGCCGCGCTCCCA 0.604 NaN NaN NaN NaN NaN NaN 20 102 --- --- XPR1 9213 broad.mit.edu 37 1 180843056 180843056 + Frame_Shift_Del DEL T T - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:180843056delT uc001goi.2 + 13 1978 c.1786delT c.(1786-1788)TTTfs p.F596fs XPR1_uc009wxn.2_Frame_Shift_Del_p.F531fs NM_004736 NP_004727 Q9UBH6 XPR1_HUMAN xenotropic and polytropic retrovirus receptor 596 EXS.|Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity 0 TGCTACTGTCTTTGCCCCACT 0.368 NaN NaN NaN NaN NaN NaN 39 51 --- --- ELF3 1999 broad.mit.edu 37 1 201982385 201982389 + Frame_Shift_Del DEL AAGAG AAGAG - rs137861501 TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 AAGAG - AAGAG AAGAG Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr1:201982385_201982389delAAGAG uc001gxg.3 + 6 3956_3960 c.764_768delAAGAG c.(763-768)AAAGAGfs p.K255fs ELF3_uc001gxi.3_Frame_Shift_Del_p.K255fs|ELF3_uc001gxh.3_Frame_Shift_Del_p.K255fs NM_004433 NP_004424 P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription 255_256 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 AAGCTGAGCAAAGAGTACTGGGACT 0.644 NaN NaN NaN NaN NaN NaN 66 71 --- --- BBS10 79738 broad.mit.edu 37 12 76742124 76742126 + In_Frame_Del DEL CAT CAT - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr12:76742124_76742126delCAT uc001syd.1 - 1 97_99 c.13_15delATG c.(13-15)ATGdel p.M5del NM_024685 NP_078961 Q8TAM1 BBS10_HUMAN Bardet-Biedl syndrome 10 5 cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis cilium ATP binding ovary(1)|skin(1) 2 CTGCAGCGGCCATAGAACTTAAC 0.611 NaN Bardet-Biedl_syndrome OREG0022001 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 10 18 --- --- CDADC1 81602 broad.mit.edu 37 13 49833659 49833660 + Splice_Site INS - - GTAA TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr13:49833659_49833660insGTAA uc001vcu.2 + 4 506 c.430_splice c.e4+1 p.A144_splice CDADC1_uc001vcs.1_Splice_Site|CDADC1_uc001vct.1_Splice_Site_p.A26_splice|CDADC1_uc010tgk.1_Intron|CDADC1_uc001vcv.2_Splice_Site NM_030911 NP_112173 Q9BWV3 CDAC1_HUMAN cytidine and dCMP deaminase domain containing 1 hydrolase activity|zinc ion binding upper_aerodigestive_tract(1) 1 Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216) GATTGTAAATGGTAAGTGCAGA 0.272 NaN NaN NaN NaN NaN NaN 16 156 --- --- PMFBP1 83449 broad.mit.edu 37 16 72205093 72205101 + Splice_Site DEL TACCTCATC TACCTCATC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr16:72205093_72205101delTACCTCATC uc002fcc.3 - 2 184 c.12_splice c.e2+1 p.E4_splice PMFBP1_uc002fcd.2_Splice_Site_p.E4_splice|PMFBP1_uc002fce.2_Splice_Site|PMFBP1_uc002fcf.2_Splice_Site NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 ovary(2) 2 Ovarian(137;0.179) TTAGGAGCCTTACCTCATCTTTCATTTCC 0.33 NaN NaN NaN NaN NaN NaN 14 179 --- --- LAMA3 3909 broad.mit.edu 37 18 21437864 21437877 + Frame_Shift_Del DEL GCTTTCCTGAGTGT GCTTTCCTGAGTGT - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr18:21437864_21437877delGCTTTCCTGAGTGT uc002kuq.2 + 33 4279_4292 c.4193_4206delGCTTTCCTGAGTGT c.(4192-4206)CGCTTTCCTGAGTGTfs p.R1398fs LAMA3_uc002kur.2_Frame_Shift_Del_p.R1398fs NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 1398_1402 Domain III B.|Laminin EGF-like 11. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGGTTTTACCGCTTTCCTGAGTGTGTTCCCTGCA 0.519 NaN NaN NaN NaN NaN NaN 53 105 --- --- ME2 4200 broad.mit.edu 37 18 48450474 48450480 + Frame_Shift_Del DEL AAAGCAA AAAGCAA - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr18:48450474_48450480delAAAGCAA uc002ley.2 + 11 1319_1325 c.1063_1069delAAAGCAA c.(1063-1071)AAAGCAAAAfs p.K355fs ME2_uc010dpd.2_Frame_Shift_Del_p.K355fs NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 355_357 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) TTAGGGACGGAAAGCAAAAATAGATAG 0.314 NaN NaN NaN NaN NaN NaN 38 60 --- --- PNPT1 87178 broad.mit.edu 37 2 55895089 55895089 + Frame_Shift_Del DEL T T - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr2:55895089delT uc002rzf.2 - 12 1034 c.981delA c.(979-981)AAAfs p.K327fs PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 327 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) CTTCTGGAAATTTTTCTATAG 0.284 NaN NaN NaN NaN NaN NaN 19 65 --- --- LAMA2 3908 broad.mit.edu 37 6 129498972 129498972 + Frame_Shift_Del DEL C C - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr6:129498972delC uc003qbn.2 + 10 1533 c.1428delC c.(1426-1428)AGCfs p.S476fs LAMA2_uc003qbo.2_Frame_Shift_Del_p.S476fs NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 476 Laminin EGF-like 4. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GGTTAGGGAGCAAAAATGAGG 0.478 NaN NaN NaN NaN NaN NaN 37 83 --- --- CPA2 1358 broad.mit.edu 37 7 129919306 129919318 + Frame_Shift_Del DEL CTGGAGCCAGCAG CTGGAGCCAGCAG - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr7:129919306_129919318delCTGGAGCCAGCAG uc003vpq.2 + 9 810_822 c.791_803delCTGGAGCCAGCAG c.(790-804)CCTGGAGCCAGCAGCfs p.P264fs NM_001869 NP_001860 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) precursor 264_268 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding ovary(1) 1 Melanoma(18;0.0435) TCCCCAGGACCTGGAGCCAGCAGCAACCCTTGC 0.502 NaN NaN NaN NaN NaN NaN 7 84 --- --- IMPAD1 54928 broad.mit.edu 37 8 57905985 57906000 + Frame_Shift_Del DEL CCGCGGGCCCCGCCGC CCGCGGGCCCCGCCGC - TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr8:57905985_57906000delCCGCGGGCCCCGCCGC uc003xte.3 - 1 428_443 c.145_160delGCGGCGGGGCCCGCGG c.(145-162)GCGGCGGGGCCCGCGGCCfs p.A49fs NM_017813 NP_060283 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 49_54 Poly-Ala. Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding ovary(1) 1 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) TcggccgcggccgcgggccccgccgcgccgccgccA 0.588 NaN NaN NaN NaN NaN NaN 5 9 --- --- RALGDS 5900 broad.mit.edu 37 9 135977871 135977872 + Frame_Shift_Ins INS - - CGCT TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 31382822-3792-47bc-99e8-8a1ee1e4e58b 27561a6d-8637-4937-ade5-e4e02bf79fec g.chr9:135977871_135977872insCGCT uc004cco.2 - 14 2020_2021 c.2000_2001insAGCG c.(1999-2001)CGCfs p.R667fs RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccn.2_5'Flank|RALGDS_uc004ccp.2_RNA|RALGDS_uc004ccq.2_Frame_Shift_Ins_p.R655fs|RALGDS_uc004ccr.2_Frame_Shift_Ins_p.R666fs|RALGDS_uc011mcv.1_Frame_Shift_Ins_p.R638fs|RALGDS_uc004ccs.2_Frame_Shift_Ins_p.R612fs|RALGDS_uc011mcw.1_Frame_Shift_Ins_p.R738fs|RALGDS_uc004ccv.1_Frame_Shift_Ins_p.R436fs|RALGDS_uc004ccu.1_Frame_Shift_Ins_p.R436fs NM_006266 NP_006257 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 667 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity large_intestine(1)|lung(1)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) ACTCGCTCCAGCGCTTGACAAT 0.515 NaN T CIITA PMBL|Hodgkin Lymphona| NaN NaN NaN NaN NaN 19 155 --- ---