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 PTCHD2 57540 broad.mit.edu 37 1 11596632 11596632 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:11596632C>T uc001ash.3 + 21 4206 c.4068C>T c.(4066-4068)TTC>TTT p.F1356F NM_020780 NP_065831 Q9P2K9 PTHD2_HUMAN patched domain containing 2 1356 Extracellular (Potential). cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway endoplasmic reticulum|integral to membrane|nuclear membrane hedgehog receptor activity skin(3)|ovary(2)|pancreas(1)|breast(1) 7 Ovarian(185;0.249) Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549) GGACTTCCTTCCTCAAGGCCC 0.672 NaN 0 0 0 0.00499 0 15 14 AGTRAP 57085 broad.mit.edu 37 1 11810185 11810185 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:11810185C>T uc001asv.2 + 5 540 c.416C>T c.(415-417)GCA>GTA p.A139V AGTRAP_uc001ast.2_3'UTR|AGTRAP_uc001asu.2_3'UTR|AGTRAP_uc001asw.2_Missense_Mutation_p.A132V|AGTRAP_uc001asx.2_3'UTR NM_020350 NP_065083 Q6RW13 ATRAP_HUMAN angiotensin II receptor-associated protein 139 Cytoplasmic (Potential). cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein binding AGTRAP/BRAF(2) stomach(2) 2 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) ATTGACTCAGCAGAGGCGCCC 0.607 NaN 0 0 0 0.004007 0 14 35 EPHA8 2046 broad.mit.edu 37 1 22902808 22902808 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:22902808G>A uc001bfx.1 + 3 383 c.258G>A c.(256-258)ACG>ACA p.T86T EPHA8_uc001bfw.2_Silent_p.T86T NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 86 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GGCTGCGCACGAGCTGGGTCC 0.617 NaN 0 0 0 0.01441 0 50 83 EPHA8 2046 broad.mit.edu 37 1 22902965 22902965 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:22902965G>C uc001bfx.1 + 3 540 c.415G>C c.(415-417)GAA>CAA p.E139Q EPHA8_uc001bfw.2_Missense_Mutation_p.E139Q NM_020526 NP_065387 P29322 EPHA8_HUMAN ephrin receptor EphA8 isoform 1 precursor 139 Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity central_nervous_system(5)|breast(3)|lung(2)|large_intestine(1)|stomach(1)|skin(1) 13 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CAGCACACAAGAAAGCCAGTT 0.612 NaN 0 0 0 0.011902 0 42 60 ARID1A 8289 broad.mit.edu 37 1 27100988 27100988 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:27100988C>T uc001bmv.1 + 18 4643 c.4270C>T c.(4270-4272)CAG>TAG p.Q1424* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q1423*|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q1041*|ARID1A_uc001bmx.1_Nonsense_Mutation_p.Q270*|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1424 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCCTTCCCCTCAGCAAGATGT 0.622 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.006999 0 40 68 ARID1A 8289 broad.mit.edu 37 1 27101586 27101586 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:27101586C>T uc001bmv.1 + 18 5241 c.4868C>T c.(4867-4869)TCG>TTG p.S1623L ARID1A_uc001bmt.1_Missense_Mutation_p.S1622L|ARID1A_uc001bmu.1_Missense_Mutation_p.S1406L|ARID1A_uc001bmw.1_Missense_Mutation_p.S1240L|ARID1A_uc001bmx.1_Missense_Mutation_p.S469L|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1623 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GTACCTGCCTCGCACATAGCA 0.602 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 52 78 FAM76A 199870 broad.mit.edu 37 1 28086093 28086093 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:28086093G>A uc001boq.2 + 8 894 c.792G>A c.(790-792)ATG>ATA p.M264I FAM76A_uc009vtb.2_Missense_Mutation_p.M264I|FAM76A_uc001bor.2_Missense_Mutation_p.M298I|FAM76A_uc001bos.2_Missense_Mutation_p.M269I|FAM76A_uc001bot.2_Missense_Mutation_p.M235I|FAM76A_uc010ofm.1_Missense_Mutation_p.M184I NM_152660 NP_689873 Q8TAV0 FA76A_HUMAN hypothetical protein LOC199870 isoform 3 264 Potential. 0 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) GAGCCAAAATGAACCAGATGG 0.413 NaN 0 0 0 0.00333 0 22 45 LRRC41 10489 broad.mit.edu 37 1 46745288 46745288 + Splice_Site SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:46745288T>C uc001cpn.2 - 8 2065 c.2021_splice c.e8-1 p.E674_splice LRRC41_uc010omb.1_Intron NM_006369 NP_006360 Q15345 LRC41_HUMAN MUF1 protein ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(166;0.155) AGGTAATCTCTGTCAAGAAAA 0.502 NaN 0 0 0 0.01441 0 59 115 MCOLN3 55283 broad.mit.edu 37 1 85498432 85498432 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:85498432G>C uc001dkp.2 - 6 772 c.679C>G c.(679-681)CTG>GTG p.L227V MCOLN3_uc001dkq.2_Missense_Mutation_p.L171V|MCOLN3_uc001dkr.2_Missense_Mutation_p.L227V|MCOLN3_uc001dks.3_Missense_Mutation_p.L72V NM_018298 NP_060768 Q8TDD5 MCLN3_HUMAN mucolipin 3 227 integral to membrane ion channel activity skin(1) 1 all cancers(265;0.00957)|Epithelial(280;0.0254) ACTGTCTGCAGATTAATGGCT 0.408 NaN 0 0 0 0.01441 0 104 75 DBT 1629 broad.mit.edu 37 1 100701034 100701034 + Nonsense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:100701034G>C uc001dta.2 - 3 242 c.209C>G c.(208-210)TCA>TGA p.S70* DBT_uc010oug.1_5'UTR NM_001918 NP_001909 P11182 ODB2_HUMAN dihydrolipoamide branched chain transacylase 70 Lipoyl-binding. branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding pancreas(1) 1 all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131) Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199) TCCAATGTCTGAGAGCTTGAA 0.289 NaN 0 0 0 0.01441 0 41 87 OLFM3 118427 broad.mit.edu 37 1 102462345 102462345 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:102462345G>C uc001dug.2 - 1 446 c.28C>G c.(28-30)CTC>GTC p.L10V OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) AGCAGCAGGAGGTTGAGAAGG 0.433 NaN 0 0 0 0.005524 0 34 67 TRIM46 80128 broad.mit.edu 37 1 155154488 155154488 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:155154488C>T uc001fhs.1 + 9 1832 c.1749C>T c.(1747-1749)GGC>GGT p.G583G RAG1AP1_uc010pey.1_Intron|TRIM46_uc009wpe.1_RNA|TRIM46_uc001fht.1_RNA|TRIM46_uc010pfa.1_Silent_p.G457G|TRIM46_uc001fhu.1_Silent_p.G560G|TRIM46_uc009wpg.1_Silent_p.G570G|TRIM46_uc001fhw.1_RNA NM_025058 NP_079334 Q7Z4K8 TRI46_HUMAN tripartite motif-containing 46 583 B30.2/SPRY. intracellular zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGTCCTGGGCGACGTGGCTG 0.562 NaN 0 0 0 0.001855 0 14 25 SCAMP3 10067 broad.mit.edu 37 1 155230165 155230165 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:155230165C>T uc001fjs.2 - 4 597 c.344G>A c.(343-345)CGA>CAA p.R115Q RAG1AP1_uc010pey.1_Intron|SCAMP3_uc001fjr.2_5'UTR|SCAMP3_uc001fju.2_Missense_Mutation_p.R115Q|SCAMP3_uc001fjv.2_Missense_Mutation_p.R115Q|SCAMP3_uc001fjt.2_Missense_Mutation_p.R89Q NM_005698 NP_005689 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 isoform 1 115 Cytoplasmic (Potential). post-Golgi vesicle-mediated transport|protein transport integral to membrane ovary(3) 3 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCGCTCCCTTCGGTCCAACTC 0.582 NaN 0 0 0 0.01441 0 59 94 ARHGEF2 9181 broad.mit.edu 37 1 155922418 155922418 + Splice_Site SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:155922418C>A uc001fmt.2 - 15 2102 c.1984_splice c.e15+1 p.V662_splice ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Splice_Site_p.V634_splice|ARHGEF2_uc001fms.2_Splice_Site_p.V661_splice|ARHGEF2_uc001fmu.2_Splice_Site_p.V706_splice NM_001162383 NP_001155855 Q92974 ARHG2_HUMAN Rho/Rac guanine nucleotide exchange factor 2 actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding ovary(1) 1 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) AGCTCCCTCACCCTCACGGAT 0.607 NaN 1 0 2.46105e-21 0.010818 2.69399e-21 30 49 ASTN1 460 broad.mit.edu 37 1 176833476 176833476 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:176833476C>T uc001glc.2 - 23 4041 c.3829G>A c.(3829-3831)GAG>AAG p.E1277K ASTN1_uc001glb.1_Intron NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 1285 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GTCTGCTCCTCACACGTCTTC 0.577 NaN 0 0 0 0.01441 0 74 102 CFHR5 81494 broad.mit.edu 37 1 196965186 196965186 + Silent SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:196965186C>A uc001gts.3 + 6 953 c.825C>A c.(823-825)CTC>CTA p.L275L NM_030787 NP_110414 Q9BXR6 FHR5_HUMAN complement factor H-related 5 precursor 275 Sushi 5. complement activation, alternative pathway extracellular region breast(1)|skin(1) 2 TACCTGAACTCGAGTACGGTT 0.348 NaN 1 0 7.82978e-24 0.01441 8.642e-24 59 108 CYB5R1 51706 broad.mit.edu 37 1 202936373 202936373 + Translation_Start_Site SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:202936373G>C uc001gyt.2 - 1 32 c.-39C>G c.(-41--37)ATCTG>ATGTG CYB5R1_uc010pqe.1_RNA NM_016243 NP_057327 Q9UHQ9 NB5R1_HUMAN cytochrome b5 reductase 1 sterol biosynthetic process integral to membrane cytochrome-b5 reductase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(75;0.141) CAAGCCGACAGATCCCACAAT 0.348 NaN 0 0 0 0.00245 0 10 20 LYST 1130 broad.mit.edu 37 1 235973532 235973532 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:235973532G>T uc001hxj.2 - 5 761 c.586C>A c.(586-588)CCT>ACT p.P196T LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.P196T NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 196 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTTGTTTAGGAAACGATGTT 0.428 NaN Chediak-Higashi_syndrome 1 0 9.11151e-29 0.01441 1.01408e-28 87 162 KIAA1279 26128 broad.mit.edu 37 10 70765492 70765492 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:70765492G>C uc001joy.2 + 4 706 c.610G>C c.(610-612)GAA>CAA p.E204Q NM_015634 NP_056449 Q96EK5 KBP_HUMAN KIF1 binding protein 204 cell differentiation|mitochondrial transport|nervous system development mitochondrion kinesin binding ovary(1) 1 TTACAGATTTGAAAAGGTTTA 0.209 NaN 0 0 0 0.00499 0 17 29 PPP3CB 5532 broad.mit.edu 37 10 75239146 75239146 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:75239146C>T uc001jue.2 - 2 350 c.215G>A c.(214-216)AGA>AAA p.R72K PPP3CB_uc001juf.2_Missense_Mutation_p.R72K|PPP3CB_uc001jug.2_Missense_Mutation_p.R72K|PPP3CB_uc001jui.2_Missense_Mutation_p.R72K|PPP3CB_uc001juh.2_5'UTR NM_021132 NP_066955 P16298 PP2BB_HUMAN protein phosphatase 3, catalytic subunit, beta 72 Catalytic. skin(1) 1 Prostate(51;0.0119) ATTGATAATTCTAAGCGCAAT 0.403 NaN 0 0 0 0.01441 0 115 226 COMTD1 118881 broad.mit.edu 37 10 76993951 76993951 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:76993951C>T uc001jxb.2 - 7 753 c.669G>A c.(667-669)CCG>CCA p.P223P COMTD1_uc001jxc.1_Missense_Mutation_p.E315K NM_144589 NP_653190 Q86VU5 CMTD1_HUMAN catechol-O-methyltransferase domain containing 223 integral to membrane O-methyltransferase activity 0 all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183) CGTCCCCTTTCGGAGGTTGCA 0.697 NaN 0 0 0 0.010818 0 26 54 SLC18A2 6571 broad.mit.edu 37 10 119013596 119013596 + Silent SNP T T C rs11568720 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:119013596T>C uc001ldd.1 + 5 592 c.561T>C c.(559-561)ATT>ATC p.I187I SLC18A2_uc009xyy.1_5'UTR NM_003054 NP_003045 Q05940 VMAT2_HUMAN solute carrier family 18 (vesicular monoamine), 187 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction monoamine transmembrane transporter activity 0 Colorectal(252;0.19) all cancers(201;0.029) Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844) TCCTGCTGATTGCCAGGTCGC 0.607 NaN 0 0 0 0.01441 0 70 138 NUP98 4928 broad.mit.edu 37 11 3704662 3704662 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:3704662C>T uc001lyh.2 - 30 4977 c.4686G>A c.(4684-4686)GAG>GAA p.E1562E NUP98_uc001lyi.2_Silent_p.E1488E|NUP98_uc001lyg.2_Silent_p.E527E NM_016320 NP_057404 P52948 NUP98_HUMAN nucleoporin 98kD isoform 1 1579 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1) 12 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) GAACAGCCTTCTCACGTATGC 0.537 NaN T HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11 AML 0 0 0 0.005524 0 34 17 SBF2 81846 broad.mit.edu 37 11 10022460 10022460 + Splice_Site SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:10022460C>T uc001mib.2 - 8 999 c.861_splice c.e8+1 p.L287_splice SBF2_uc001mif.3_Splice_Site_p.L43_splice NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) TGAATACTTACAAGTTCATGG 0.363 NaN 0 0 0 0.00333 0 24 13 OR4A15 81328 broad.mit.edu 37 11 55136137 55136137 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:55136137G>A uc010rif.1 + 1 778 c.778G>A c.(778-780)GGG>AGG p.G260R NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, 260 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 GAGTTTGGAAGGGAAACGAAA 0.428 NaN 0 0 0 0.01441 0 89 106 OR9G9 504191 broad.mit.edu 37 11 56468004 56468004 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:56468004G>T uc010rjn.1 + 1 141 c.141G>T c.(139-141)TTG>TTT p.L47F NM_001013358 NP_001013376 P0C7N8 OR9G9_HUMAN olfactory receptor, family 9, subfamily G, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TCATCGTGTTGATCTGTAATG 0.502 NaN 1 0 3.73148e-12 0.007291 3.95447e-12 18 99 SLC22A8 9376 broad.mit.edu 37 11 62763286 62763286 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:62763286G>C uc001nwo.2 - 7 1027 c.891C>G c.(889-891)CTC>CTG p.L297L SLC22A8_uc001nwn.1_3'UTR|SLC22A8_uc001nwp.2_Silent_p.L297L|SLC22A8_uc009yom.2_Silent_p.L174L|SLC22A8_uc010rmm.1_Silent_p.L206L|SLC22A8_uc009yon.2_Silent_p.L297L NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 297 Cytoplasmic (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 GGTTGAGTTTGAGCTCCTTCG 0.582 NaN 0 0 0 0.01441 0 60 98 MEN1 4221 broad.mit.edu 37 11 64571830 64571830 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:64571830G>C uc001obj.2 - 10 1897 c.1824C>G c.(1822-1824)CTC>CTG p.L608L MAP4K2_uc001obh.2_5'Flank|MAP4K2_uc001obi.2_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.2_Silent_p.L608L|MEN1_uc001obl.2_Silent_p.L568L|MEN1_uc001obm.2_Silent_p.L603L|MEN1_uc001obn.2_Silent_p.L608L|MEN1_uc001obo.2_Silent_p.L608L|MEN1_uc001obp.2_Silent_p.L603L|MEN1_uc001obq.2_Silent_p.L608L|MEN1_uc001obr.2_Silent_p.L608L NM_130800 NP_570712 O00255 MEN1_HUMAN menin isoform 1 608 DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1) 238 GCTGCCGCTTGAGGAAAGACA 0.577 NaN D|Mis|N|F|S parathyroid tumors|Pancreatic neuroendocrine tumors parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1 0 0 0 0.01441 0 114 177 GSTP1 2950 broad.mit.edu 37 11 67353963 67353963 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:67353963G>C uc001omf.2 + 7 797 c.548G>C c.(547-549)CGC>CCC p.R183P GSTP1_uc001omg.1_Missense_Mutation_p.R164P NM_000852 NP_000843 P09211 GSTP1_HUMAN glutathione transferase 183 GST C-terminal. anti-apoptosis|cellular response to lipopolysaccharide|central nervous system development|common myeloid progenitor cell proliferation|glutathione metabolic process|negative regulation of acute inflammatory response|negative regulation of ERK1 and ERK2 cascade|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 beta production|negative regulation of JUN kinase activity|negative regulation of leukocyte proliferation|negative regulation of monocyte chemotactic protein-1 production|negative regulation of necrotic cell death|negative regulation of nitric-oxide synthase 2 biosynthetic process|negative regulation of stress-activated MAPK cascade|negative regulation of tumor necrosis factor production|nitric oxide storage|positive regulation of superoxide anion generation|response to reactive oxygen species|xenobiotic metabolic process cytosol|protein complex dinitrosyl-iron complex binding|glutathione transferase activity|JUN kinase binding|kinase regulator activity|nitric oxide binding|S-nitrosoglutathione binding ovary(1) 1 Ethacrynic acid(DB00903)|Glutathione(DB00143) TATGTGGGGCGCCTCAGTGCC 0.617 NaN 0 0 0 0.00278 0 22 38 PIWIL4 143689 broad.mit.edu 37 11 94310554 94310554 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr11:94310554A>G uc001pfa.2 + 4 620 c.409A>G c.(409-411)AGA>GGA p.R137G PIWIL4_uc010rue.1_RNA|PIWIL4_uc009ywk.1_RNA NM_152431 NP_689644 Q7Z3Z4 PIWL4_HUMAN piwi-like 4 137 cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis nucleus|piP-body piRNA binding skin(1) 1 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) TTTAGCATCTAGAAGGCTGAG 0.383 NaN 0 0 0 0.009096 0 4 52 CACNA1C 775 broad.mit.edu 37 12 2602373 2602373 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:2602373G>T uc009zdu.1 + 7 1247 c.934G>T c.(934-936)GAC>TAC p.D312Y CACNA1C_uc009zdv.1_Missense_Mutation_p.D309Y|CACNA1C_uc001qkb.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkc.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qke.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkf.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qjz.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkd.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkg.2_Missense_Mutation_p.D312Y|CACNA1C_uc009zdw.1_Missense_Mutation_p.D312Y|CACNA1C_uc001qkh.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkl.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkn.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qko.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkp.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkr.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qku.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkq.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qks.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qkt.2_Missense_Mutation_p.D312Y|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkj.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkk.1_Missense_Mutation_p.D48Y|CACNA1C_uc001qkm.1_Missense_Mutation_p.D48Y NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 312 I.|Extracellular (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCAGAAGATGACCCTTCCCC 0.592 NaN 1 0 2.87052e-16 0.005524 3.0665e-16 39 65 TULP3 7289 broad.mit.edu 37 12 3000150 3000150 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:3000150G>C uc010seh.1 + 1 118 c.37G>C c.(37-39)GAC>CAC p.D13H TULP3_uc010sef.1_Intron|TULP3_uc009zec.1_5'UTR|TULP3_uc010seg.1_RNA|TULP3_uc001qlj.2_Missense_Mutation_p.D13H|TULP3_uc010sei.1_5'UTR NM_003324 NP_003315 O75386 TULP3_HUMAN tubby like protein 3 isoform 1 13 G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent cytoplasm|extracellular region|nucleus|plasma membrane phosphatidylinositol-4,5-bisphosphate binding 0 OV - Ovarian serous cystadenocarcinoma(31;0.000818) TCCCAGCGGCGACAGGTCAGA 0.711 NaN 0 0 0 0.00308 0 7 13 GPRC5A 9052 broad.mit.edu 37 12 13062090 13062090 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:13062090G>C uc001rba.2 + 2 1557 c.907G>C c.(907-909)GAG>CAG p.E303Q GPRC5A_uc001raz.2_Missense_Mutation_p.E303Q NM_003979 NP_003970 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, 303 Cytoplasmic (Potential). cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity 0 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) CTACTCTCAAGAGGAAATCAC 0.398 NaN 0 0 0 0.003954 0 21 37 PYROXD1 79912 broad.mit.edu 37 12 21608984 21608984 + Silent SNP G G A rs137912595 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:21608984G>A uc001rew.2 + 7 832 c.705G>A c.(703-705)TTG>TTA p.L235L PYROXD1_uc009ziq.2_5'UTR|PYROXD1_uc009zir.2_5'UTR NM_024854 NP_079130 Q8WU10 PYRD1_HUMAN pyridine nucleotide-disulphide oxidoreductase 235 oxidoreductase activity ovary(1) 1 GAAGTGCATTGGGACCAGATT 0.308 NaN 0 0 0 0.01441 0 43 64 SLC38A2 54407 broad.mit.edu 37 12 46757598 46757598 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:46757598C>A uc001rpg.2 - 12 1405 c.965G>T c.(964-966)AGA>ATA p.R322I SLC38A2_uc010sli.1_Missense_Mutation_p.R160I|SLC38A2_uc001rph.2_Missense_Mutation_p.R222I NM_018976 NP_061849 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 322 Cytoplasmic (Potential). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity urinary_tract(1)|skin(1) 2 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CATCATTCTTCTACGGCTGCG 0.338 NaN 1 0 1.33986e-20 0.004656 1.46067e-20 25 56 ASB8 140461 broad.mit.edu 37 12 48547243 48547243 + Nonsense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:48547243G>A uc001rrh.2 - 2 206 c.37C>T c.(37-39)CAG>TAG p.Q13* ASB8_uc010slr.1_Nonsense_Mutation_p.Q9* NM_024095 NP_077000 Q9H765 ASB8_HUMAN ankyrin repeat and SOCS box-containing 8 13 intracellular signal transduction cytoplasm|nucleus kidney(1) 1 TATTTGCTCTGAATGCTCTGC 0.448 NaN 0 0 0 0.01441 0 55 81 ZNF641 121274 broad.mit.edu 37 12 48736909 48736909 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:48736909C>T uc001rrn.1 - 6 1329 c.1164G>A c.(1162-1164)GTG>GTA p.V388V ZNF641_uc001rro.1_Silent_p.V374V|ZNF641_uc010sls.1_Silent_p.V365V NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 388 C2H2-type 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 GCCAGTGTCTCACAAGGTGGT 0.597 NaN 0 0 0 0.00499 0 14 179 GPD1 2819 broad.mit.edu 37 12 50500080 50500080 + Missense_Mutation SNP G G A rs34783513 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:50500080G>A uc001rvz.2 + 4 403 c.370G>A c.(370-372)GAG>AAG p.E124K GPD1_uc001rwa.2_Missense_Mutation_p.E101K NM_005276 NP_005267 P21695 GPDA_HUMAN glycerol-3-phosphate dehydrogenase 1 (soluble) 124 glycerol-3-phosphate catabolic process|triglyceride biosynthetic process cytosol|glycerol-3-phosphate dehydrogenase complex glycerol-3-phosphate dehydrogenase|protein homodimerization activity 0 NADH(DB00157) GGGGGTAGACGAGGGCCCCAA 0.622 NaN 0 0 0 0.004672 0 3 31 KRT2 3849 broad.mit.edu 37 12 53045870 53045870 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:53045870G>A uc001sat.2 - 1 90 c.57C>T c.(55-57)TTC>TTT p.F19F NM_000423 NP_000414 P35908 K22E_HUMAN keratin 2 19 Head. keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation Golgi apparatus|keratin filament protein binding|structural constituent of cytoskeleton ovary(2) 2 BRCA - Breast invasive adenocarcinoma(357;0.19) TGAAGCCCCGGAAtcctcctc 0.498 NaN 0 0 0 0.000602 0 5 9 ERBB3 2065 broad.mit.edu 37 12 56487277 56487277 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:56487277C>T uc001sjh.2 + 12 1616 c.1423C>T c.(1423-1425)CGG>TGG p.R475W ERBB3_uc009zoj.2_Intron|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.R416W|ERBB3_uc009zok.2_5'Flank|ERBB3_uc001sjk.2_5'Flank|ERBB3_uc001sjj.1_Missense_Mutation_p.R43W NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 475 Extracellular (Potential). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAAGGTGCTTCGGGGGCCTAC 0.547 NaN 0 0 0 0.01441 0 91 61 TMEM194A 23306 broad.mit.edu 37 12 57472424 57472425 + Missense_Mutation DNP GG GG AA TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:57472424_57472425GG>AA uc001smy.2 - 1 150_151 c.104_105CC>TT c.(103-105)TCC>TTT p.S35F TMEM194A_uc001smx.2_Missense_Mutation_p.S35F|TMEM194A_uc010sra.1_5'UTR NM_001130963 NP_001124435 O14524 T194A_HUMAN transmembrane protein 194A isoform a 35 Helical; (Potential). integral to membrane 0 CCAAGCAGCCGGAGAGGATCAA 0.673 NaN 0 0 0 0.004672 0 57 181 LEMD3 23592 broad.mit.edu 37 12 65564407 65564407 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:65564407G>T uc001ssl.1 + 1 1037 c.1031G>T c.(1030-1032)GGA>GTA p.G344V LEMD3_uc009zqo.1_Missense_Mutation_p.G344V NM_014319 NP_055134 Q9Y2U8 MAN1_HUMAN LEM domain containing 3 344 negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway integral to nuclear inner membrane|membrane fraction DNA binding|nucleotide binding|protein binding central_nervous_system(3)|ovary(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0104) GAGCAGGGAGGAGGGTGTGAT 0.627 NaN 1 0 2.32416e-17 0.014323 2.50294e-17 22 71 TRHDE 29953 broad.mit.edu 37 12 73012710 73012710 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:73012710C>T uc001sxa.2 + 13 2256 c.2226C>T c.(2224-2226)ATC>ATT p.I742I NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 742 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 TGGAGATTATCAGATACCTGT 0.398 NaN 0 0 0 0.007291 0 29 62 KRR1 11103 broad.mit.edu 37 12 75905329 75905329 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:75905329C>T uc001sxt.2 - 1 90 c.49G>A c.(49-51)GAA>AAA p.E17K KRR1_uc009zsc.2_Missense_Mutation_p.E17K|KRR1_uc010stx.1_Missense_Mutation_p.E17K NM_007043 NP_008974 Q13601 KRR1_HUMAN HIV-1 rev binding protein 2 17 rRNA processing nucleolus|ribonucleoprotein complex RNA binding ovary(1)|pancreas(1) 2 TTACGAAATTCACTTTTTCCA 0.502 NaN 0 0 0 0.01441 0 46 100 SLC17A8 246213 broad.mit.edu 37 12 100797869 100797869 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:100797869T>C uc010svi.1 + 9 1420 c.1107T>C c.(1105-1107)ATT>ATC p.I369I SLC17A8_uc009ztx.2_Silent_p.I319I NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 369 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 TTGTACCTATTGGAGGACAAT 0.403 NaN 0 0 0 0.012213 0 31 67 MED13L 23389 broad.mit.edu 37 12 116403955 116403955 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:116403955C>G uc001tvw.2 - 29 6374 c.6319G>C c.(6319-6321)GAG>CAG p.E2107Q NM_015335 NP_056150 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2107 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent skin(4)|ovary(2)|upper_aerodigestive_tract(1)|lung(1) 8 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) GGAAGATTCTCAGCTTTGGCA 0.488 NaN 0 0 0 0.01441 0 75 135 BRCA2 675 broad.mit.edu 37 13 32912514 32912514 + Nonsense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:32912514C>G uc001uub.1 + 11 4249 c.4022C>G c.(4021-4023)TCA>TGA p.S1341* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 1341 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) GGCAGTGATTCAAGTAAAAAT 0.303 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.00333 0 25 46 CAB39L 81617 broad.mit.edu 37 13 49933858 49933858 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:49933858G>A uc001vcw.2 - 4 885 c.387C>T c.(385-387)CTC>CTT p.L129L CAB39L_uc001vcx.2_Silent_p.L129L|CAB39L_uc010adf.2_Silent_p.L126L NM_030925 NP_112187 Q9H9S4 CB39L_HUMAN calcium binding protein 39-like 129 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol protein binding 0 Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226) ACCCTTTGAGGAGCATAAACA 0.393 NaN 0 0 0 0.013726 0 30 79 KLHL1 57626 broad.mit.edu 37 13 70681661 70681661 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:70681661G>C uc001vip.2 - 1 965 c.171C>G c.(169-171)CTC>CTG p.L57L KLHL1_uc010thm.1_Silent_p.L57L|ATXN8OS_uc010aej.1_RNA NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 57 Ser-rich. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTTGGCTTTTGAGCAGGCGAC 0.473 NaN 0 0 0 0.01441 0 49 92 DACH1 1602 broad.mit.edu 37 13 72146982 72146982 + Nonsense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:72146982G>C uc010thn.1 - 5 1712 c.1289C>G c.(1288-1290)TCA>TGA p.S430* DACH1_uc010tho.1_Intron|DACH1_uc010thp.1_Intron NM_080759 NP_542937 Q9UI36 DACH1_HUMAN dachshund homolog 1 isoform a 482 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding breast(1) 1 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) CTTAATAACTGATGTCTCAAC 0.398 NaN 0 0 0 0.010771 0 42 83 SLITRK5 26050 broad.mit.edu 37 13 88329086 88329086 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:88329086G>A uc001vln.2 + 2 1662 c.1443G>A c.(1441-1443)CAG>CAA p.Q481Q SLITRK5_uc010tic.1_Silent_p.Q240Q NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 481 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) ATGGCCTGCAGAGCCTGCAGT 0.537 NaN 0 0 0 0.01441 0 49 70 GPC5 2262 broad.mit.edu 37 13 92797155 92797155 + Missense_Mutation SNP G G A rs143874024 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:92797155G>A uc010tif.1 + 7 1840 c.1474G>A c.(1474-1476)GAA>AAA p.E492K NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 492 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) AGGCATGGTTGAACAAGTCAG 0.468 NaN 0 0 0 0.01441 0 48 91 FAM70B 348013 broad.mit.edu 37 13 114498181 114498181 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr13:114498181G>A uc001vuh.2 + 4 340 c.313G>A c.(313-315)GTG>ATG p.V105M NM_182614 NP_872420 Q8WV15 FA70B_HUMAN family with sequence similarity 70, member B 105 Helical; (Potential). integral to membrane 0 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_lung(25;0.123)|all_epithelial(44;0.133) all cancers(43;0.181) CTGCGCCATCGTGGACGGCGT 0.527 NaN 0 0 0 0.01441 0 52 57 MIA2 117153 broad.mit.edu 37 14 39717074 39717074 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:39717074T>C uc001wux.2 + 4 1490 c.1296T>C c.(1294-1296)ATT>ATC p.I432I MIA2_uc010amy.1_Silent_p.I363I NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 432 extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) CGATAAAAATTATAGAAACAG 0.318 NaN 0 0 0 0.01441 0 54 74 ARID4A 5926 broad.mit.edu 37 14 58831658 58831658 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:58831658C>G uc001xdp.2 + 20 3105 c.2851C>G c.(2851-2853)CTG>GTG p.L951V ARID4A_uc001xdo.2_Missense_Mutation_p.L951V|ARID4A_uc001xdq.2_Missense_Mutation_p.L951V|ARID4A_uc010apg.1_Missense_Mutation_p.L629V NM_002892 NP_002883 P29374 ARI4A_HUMAN retinoblastoma-binding protein 1 isoform I 951 Retinoblastoma protein binding (Potential). negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter transcriptional repressor complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|lung(1) 6 TGCAATGCCTCTGATCGGGCC 0.408 NaN 0 0 0 0.01441 0 57 125 SNAPC1 6617 broad.mit.edu 37 14 62244847 62244847 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:62244847C>G uc001xft.2 + 6 855 c.751C>G c.(751-753)CAA>GAA p.Q251E NM_003082 NP_003073 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, 251 SNAPC4-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding 0 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) AGGAAATTCACAAGAAACGGA 0.294 NaN 0 0 0 0.010504 0 18 48 VTI1B 10490 broad.mit.edu 37 14 68123177 68123177 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:68123177C>T uc001xjt.2 - 4 892 c.496G>A c.(496-498)GAG>AAG p.E166K VTI1B_uc010aqp.2_Missense_Mutation_p.E105K|VTI1B_uc001xju.2_Missense_Mutation_p.E125K NM_006370 NP_006361 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with 166 Potential.|Cytoplasmic (Potential). cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane 0 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) TCCCCCAGCTCTTCTATGATT 0.522 NaN 0 0 0 0.01441 0 86 168 CATSPERB 79820 broad.mit.edu 37 14 92074642 92074642 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:92074642G>A uc001xzs.1 - 22 2845 c.2705C>T c.(2704-2706)TCA>TTA p.S902L CATSPERB_uc010aub.1_Missense_Mutation_p.S424L NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 902 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) ATTTACCTTTGACATGTGAAA 0.308 NaN 0 0 0 0.009535 0 27 51 CATSPERB 79820 broad.mit.edu 37 14 92074649 92074649 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:92074649G>A uc001xzs.1 - 22 2838 c.2698C>T c.(2698-2700)CAC>TAC p.H900Y CATSPERB_uc010aub.1_Missense_Mutation_p.H422Y NM_024764 NP_079040 Q9H7T0 CTSRB_HUMAN cation channel, sperm-associated, beta 900 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane breast(2)|skin(2)|ovary(1) 5 all_cancers(154;0.0663)|all_epithelial(191;0.236) TTTGACATGTGAAACATGTTT 0.299 NaN 0 0 0 0.013726 0 29 54 KIAA1409 57578 broad.mit.edu 37 14 94155051 94155051 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:94155051C>A uc001ybv.1 + 43 6685 c.6602C>A c.(6601-6603)ACC>AAC p.T2201N KIAA1409_uc001ybs.1_Missense_Mutation_p.T2179N NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 2356 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CATGAAGATACCTTTGGGGGA 0.502 NaN 1 0 1.60099e-16 0.004878 1.71719e-16 38 69 PPP4R4 57718 broad.mit.edu 37 14 94711948 94711948 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr14:94711948C>T uc001ycs.1 + 13 1523 c.1369C>T c.(1369-1371)CTT>TTT p.L457F NM_058237 NP_478144 Q6NUP7 PP4R4_HUMAN HEAT-like repeat-containing protein isoform 1 457 cytoplasm|protein serine/threonine phosphatase complex protein binding skin(3)|upper_aerodigestive_tract(1) 4 TATAGATCATCTTCCAGAAAT 0.308 NaN 0 0 0 0.01441 0 66 90 OCA2 4948 broad.mit.edu 37 15 28231760 28231760 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:28231760C>T uc001zbh.3 - 12 1322 c.1212G>A c.(1210-1212)ACG>ACA p.T404T OCA2_uc010ayv.2_Silent_p.T380T NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 404 Cytoplasmic (Potential). T -> M (in OCA2). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) CGAAAAATCCCGTTTCTGAAA 0.303 NaN Oculocutaneous_Albinism 0 0 0 0.01441 0 67 132 MTMR15 22909 broad.mit.edu 37 15 31197051 31197051 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:31197051A>G uc001zff.2 + 2 476 c.185A>G c.(184-186)GAA>GGA p.E62G MTMR15_uc001zfc.3_Missense_Mutation_p.E62G|MTMR15_uc010azw.2_Missense_Mutation_p.E62G|MTMR15_uc001zfd.3_Missense_Mutation_p.E62G|MTMR15_uc001zfe.2_5'UTR NM_014967 NP_055782 Q9Y2M0 FAN1_HUMAN myotubularin related protein 15 isoform a 62 UBZ-type. double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision nucleus 5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding 0 all_lung(180;2.23e-09) all cancers(64;4.72e-15)|Epithelial(43;5.4e-11)|GBM - Glioblastoma multiforme(186;0.000136)|BRCA - Breast invasive adenocarcinoma(123;0.00402)|Lung(196;0.168) CACCTTGATGAAATGTGTGCT 0.403 NaN Direct_reversal_of_damage|Editing_and_processing_nucleases 0 0 0 0.00499 0 17 60 RYR3 6263 broad.mit.edu 37 15 33795931 33795931 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:33795931G>A uc001zhi.2 + 3 341 c.271G>A c.(271-273)GGC>AGC p.G91S RYR3_uc010bar.2_Missense_Mutation_p.G91S NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 91 Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGAAAATGGCGGCGAAGGGGT 0.483 NaN 0 0 0 0.001168 0 4 15 BUB1B 701 broad.mit.edu 37 15 40488917 40488917 + Missense_Mutation SNP C C G rs61733369 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:40488917C>G uc001zkx.3 + 9 1442 c.1230C>G c.(1228-1230)TTC>TTG p.F410L BUB1B_uc010ucl.1_Missense_Mutation_p.F273L NM_001211 NP_001202 O60566 BUB1B_HUMAN budding uninhibited by benzimidazoles 1 beta 410 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity stomach(2)|ovary(1)|kidney(1) 4 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TAGGGGAATTCTCCTTTGAAG 0.408 NaN Mis|N|F|S rhabdomyosarcoma Mosaic_Variegated_Aneuploidy_Syndrome 0 0 0 0.01441 0 51 94 SLC27A2 11001 broad.mit.edu 37 15 50519375 50519375 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:50519375G>A uc001zxw.2 + 7 1689 c.1457G>A c.(1456-1458)CGG>CAG p.R486Q SLC27A2_uc010bes.2_Missense_Mutation_p.R433Q|SLC27A2_uc001zxx.2_Missense_Mutation_p.R251Q NM_003645 NP_003636 O14975 S27A2_HUMAN solute carrier family 27 (fatty acid 486 Cytoplasmic (Potential). bile acid biosynthetic process|fatty acid alpha-oxidation endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity ovary(1)|skin(1) 2 all_lung(180;0.00177) all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113) GATACATTCCGGTTGGTTTTT 0.403 NaN 0 0 0 0.010818 0 30 58 CPLX3 594855 broad.mit.edu 37 15 75122674 75122674 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:75122674T>C uc002ayu.1 + 3 550 c.456T>C c.(454-456)GCT>GCC p.A152A NM_001030005 NP_001025176 Q8WVH0 CPLX3_HUMAN complexin 3 precursor 152 cell junction|synapse syntaxin binding 0 AGCAATCAGCTGAGAAGTGTC 0.602 NaN 0 0 0 0.00245 0 14 29 RLBP1 6017 broad.mit.edu 37 15 89760379 89760379 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr15:89760379G>A uc002bnl.2 - 5 698 c.318C>T c.(316-318)AAC>AAT p.N106N NM_000326 NP_000317 P12271 RLBP1_HUMAN retinaldehyde binding protein 1 106 response to stimulus|visual perception|vitamin A metabolic process cytoplasm|soluble fraction retinol binding|transporter activity central_nervous_system(1) 1 Lung NSC(78;0.0472)|all_lung(78;0.089) Vitamin A(DB00162) CACGGCCCACGTTGAACTTCC 0.657 NaN 0 0 0 0.008871 0 18 41 SETD1A 9739 broad.mit.edu 37 16 30995215 30995215 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:30995215G>A uc002ead.1 + 19 5681 c.4995G>A c.(4993-4995)AAG>AAA p.K1665K HSD3B7_uc002eaf.2_5'Flank|HSD3B7_uc010cac.2_5'Flank|HSD3B7_uc002eag.2_5'Flank|HSD3B7_uc002eah.2_5'Flank NM_014712 NP_055527 O15047 SET1A_HUMAN SET domain containing 1A 1665 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding ovary(2)|skin(1) 3 CCCAGAAGAAGATCGTGATCT 0.582 NaN 0 0 0 0.010729 0 11 14 ABCC12 94160 broad.mit.edu 37 16 48138177 48138177 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:48138177G>A uc002efc.1 - 20 3122 c.2776C>T c.(2776-2778)CAC>TAC p.H926Y ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_Intron|ABCC12_uc002efd.1_RNA NM_033226 NP_150229 Q96J65 MRP9_HUMAN ATP-binding cassette protein C12 926 ABC transmembrane type-1 2. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 all_cancers(37;0.0474)|all_lung(18;0.047) TTCTCTGCGTGAAACGGCAGC 0.488 NaN 0 0 0 0.01441 0 83 160 CA5A 763 broad.mit.edu 37 16 87921738 87921738 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr16:87921738G>A uc002fkn.1 - 7 971 c.915C>T c.(913-915)TCC>TCT p.S305S NM_001739 NP_001730 P35218 CAH5A_HUMAN carbonic anhydrase VA, mitochondrial precursor 305 one-carbon metabolic process mitochondrial matrix carbonate dehydratase activity|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(80;0.0513) AATGTCTCTAGGACCTTGTGC 0.458 NaN 0 0 0 0.01441 0 41 66 TRPV3 162514 broad.mit.edu 37 17 3432259 3432259 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:3432259G>A uc002fvt.1 - 10 1595 c.1273C>T c.(1273-1275)CTG>TTG p.L425L TRPV3_uc002fvs.1_RNA|TRPV3_uc010vrh.1_Silent_p.L409L|TRPV3_uc010vri.1_Silent_p.L380L|TRPV3_uc010vrj.1_Silent_p.L409L|TRPV3_uc010vrk.1_RNA|TRPV3_uc010vrl.1_Silent_p.L409L|TRPV3_uc010vrm.1_RNA|TRPV3_uc002fvr.2_Silent_p.L425L|TRPV3_uc002fvu.2_Silent_p.L425L|TRPV3_uc010vrn.1_Silent_p.L7L NM_145068 NP_659505 Q8NET8 TRPV3_HUMAN transient receptor potential cation channel, 425 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(4) 4 Menthol(DB00825) AGCGTGTGCAGCGGCTCCAGG 0.517 NaN 0 0 0 0.01441 0 111 164 WDR16 146845 broad.mit.edu 37 17 9545099 9545099 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:9545099C>T uc002gly.2 + 13 1703 c.1634C>T c.(1633-1635)TCT>TTT p.S545F WDR16_uc002glz.2_Missense_Mutation_p.S477F|WDR16_uc010coc.2_Missense_Mutation_p.S555F NM_145054 NP_659491 Q8N1V2 WDR16_HUMAN WD40-repeat protein upregulated in HCC isoform 545 WD 10. cytoplasm|intracellular membrane-bounded organelle protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 GGTTCCCTGTCTGGGTCGATA 0.463 NaN 0 0 0 0.013114 0 38 25 MYH13 8735 broad.mit.edu 37 17 10231294 10231294 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:10231294A>G uc002gmk.1 - 22 2670 c.2580T>C c.(2578-2580)TTT>TTC p.F860F NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 860 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 TGGTCCTCTCAAAGTCTTCCT 0.547 NaN OREG0024177 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00623 0 37 20 LRRC37B 114659 broad.mit.edu 37 17 30358451 30358451 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:30358451G>C uc002hgu.2 + 5 1961 c.1950G>C c.(1948-1950)TGG>TGC p.W650C LRRC37B_uc010wbx.1_Missense_Mutation_p.W568C|LRRC37B_uc010csu.2_Intron NM_052888 NP_443120 Q96QE4 LR37B_HUMAN leucine rich repeat containing 37B precursor 650 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244) TTCAGGCCTGGCACGGAATGC 0.328 NaN 0 0 0 0.00333 0 16 145 ZNF830 91603 broad.mit.edu 37 17 33289624 33289624 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:33289624G>C uc002hih.3 + 1 1076 c.1039G>C c.(1039-1041)GAG>CAG p.E347Q CCT6B_uc002hig.2_5'Flank|CCT6B_uc010ctg.2_5'Flank|CCT6B_uc010wcc.1_5'Flank NM_052857 NP_443089 Q96NB3 ZN830_HUMAN coiled-coil domain containing 16 347 Potential. cell division|mitosis cytoplasm|nucleus metal ion binding breast(1) 1 Ovarian(249;0.17) AAAGGAAGAAGAGAATGCTGA 0.423 NaN 0 0 0 0.01441 0 104 68 MMP28 79148 broad.mit.edu 37 17 34094869 34094869 + Nonsense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:34094869G>C uc002hjy.1 - 9 1329 c.1070C>G c.(1069-1071)TCA>TGA p.S357* MMP28_uc002hjw.1_RNA|MMP28_uc002hjz.1_RNA NM_024302 NP_077278 Q9H239 MMP28_HUMAN matrix metalloproteinase 28 isoform 1 357 Hemopexin-like 1. proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding skin(1) 1 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0185) ACGGGGCTCTGAGACGTTGCC 0.527 NaN 0 0 0 0.007413 0 15 26 CDK12 51755 broad.mit.edu 37 17 37687065 37687065 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:37687065G>C uc010cvv.2 + 14 4555 c.3969G>C c.(3967-3969)TTG>TTC p.L1323F CDK12_uc002hrw.3_Missense_Mutation_p.L1314F NM_016507 NP_057591 Q9NYV4 CDK12_HUMAN Cdc2-related kinase, arginine/serine-rich 1323 mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity ovary(10)|lung(4)|breast(2)|skin(2)|large_intestine(1) 19 ACCAGGCCTTGAGACCAATGG 0.562 NaN TCGA Ovarian(9;0.13) 0 0 0 0.01441 0 101 96 MED24 9862 broad.mit.edu 37 17 38209839 38209839 + Missense_Mutation SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:38209839T>C uc002htt.2 - 2 326 c.13A>G c.(13-15)AAC>GAC p.N5D MED24_uc010wet.1_RNA|MED24_uc002hts.2_Missense_Mutation_p.N30D|MED24_uc002htu.2_Missense_Mutation_p.N5D|MED24_uc010cwn.2_Missense_Mutation_p.N5D|MED24_uc010weu.1_5'UTR|MED24_uc010wev.1_Intron|MED24_uc010wew.1_Intron|MED24_uc010wex.1_5'Flank|MED24_uc010wfa.1_5'Flank|MED24_uc010wfb.1_Missense_Mutation_p.N30D|MED24_uc010wfc.1_5'Flank NM_014815 NP_055630 O75448 MED24_HUMAN mediator complex subunit 24 isoform 1 5 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Colorectal(19;0.000442) TGCTTCAGGTTGACCACCTTC 0.488 NaN 0 0 0 0.01441 0 68 184 KRT15 3866 broad.mit.edu 37 17 39674601 39674601 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:39674601A>G uc002hwy.2 - 1 670 c.479T>C c.(478-480)ATT>ACT p.I160T KRT15_uc002hwz.2_Silent_p.L23L|KRT15_uc002hxa.2_Silent_p.L23L|KRT15_uc002hxb.1_Silent_p.L23L NM_002275 NP_002266 P19012 K1C15_HUMAN keratin 15 160 Rod.|Coil 1B. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton 0 Breast(137;0.000286) GAGCTCTTCAATGGTCTTGAA 0.537 NaN 0 0 0 0.01441 0 82 81 STAT5B 6777 broad.mit.edu 37 17 40379652 40379652 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:40379652G>C uc002hzh.2 - 3 349 c.180C>G c.(178-180)CTC>CTG p.L60L STAT5B_uc002hzi.3_Silent_p.L60L NM_012448 NP_036580 P51692 STA5B_HUMAN signal transducer and activator of transcription 60 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity ovary(3)|lung(2)|skin(1) 6 all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.135) Dasatinib(DB01254) GGCCCTCCAGGAGCTGGGTGG 0.502 NaN 0 0 0 0.01441 0 47 35 SCN4A 6329 broad.mit.edu 37 17 62029011 62029011 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:62029011C>T uc002jds.1 - 14 2703 c.2626G>A c.(2626-2628)GAG>AAG p.E876K NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 876 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) TTCTCATCCTCGGGGGCAGTC 0.657 NaN 0 0 0 0.009096 0 4 13 TIMP2 7077 broad.mit.edu 37 17 76866987 76866987 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:76866987G>A uc002jwf.2 - 3 635 c.333C>T c.(331-333)CTC>CTT p.L111L TIMP2_uc002jwe.2_Silent_p.L34L|TIMP2_uc010wty.1_Silent_p.L34L NM_003255 NP_003246 P16035 TIMP2_HUMAN TIMP metallopeptidase inhibitor 2 precursor 111 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(2) 2 BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194) CACCTGCAATGAGATATTCCT 0.582 NaN 0 0 0 0.01441 0 90 103 PYCR1 5831 broad.mit.edu 37 17 79891201 79891201 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr17:79891201C>T uc002kcr.1 - 7 1127 c.849G>A c.(847-849)AAG>AAA p.K283K PYCR1_uc002kcq.1_3'UTR|PYCR1_uc002kcp.2_Silent_p.K283K|PYCR1_uc002kcs.1_3'UTR|PYCR1_uc010wvd.1_Silent_p.K310K|PYCR1_uc002kct.1_Silent_p.K283K|PYCR1_uc002kcu.1_Silent_p.K252K NM_006907 NP_008838 P32322 P5CR1_HUMAN pyrroline-5-carboxylate reductase 1 isoform 1 283 cellular response to oxidative stress|proline biosynthetic process mitochondrial matrix binding|pyrroline-5-carboxylate reductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) L-Proline(DB00172)|NADH(DB00157) GGATGGTCTTCTTGATGGCGG 0.642 NaN 0 0 0 0.00333 0 22 54 PIK3C3 5289 broad.mit.edu 37 18 39584344 39584344 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr18:39584344G>A uc002lap.2 + 10 1067 c.1009G>A c.(1009-1011)GTT>ATT p.V337I PIK3C3_uc010xcl.1_Missense_Mutation_p.V274I NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 337 FLKCVN -> ILTSVI (in Ref. 1; CAA87094). cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 CTTGAAATGTGTTAATTGGGA 0.413 NaN TSP Lung(28;0.18) 0 0 0 0.01441 0 44 15 PRKCSH 5589 broad.mit.edu 37 19 11559788 11559788 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:11559788C>T uc002mrt.2 + 15 1661 c.1325C>T c.(1324-1326)TCT>TTT p.S442F PRKCSH_uc002mru.2_Missense_Mutation_p.S439F|PRKCSH_uc010xlz.1_Missense_Mutation_p.S449F|PRKCSH_uc010dya.2_Missense_Mutation_p.S224F|PRKCSH_uc010dyb.2_Missense_Mutation_p.S439F NM_002743 NP_002734 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H isoform 1 442 PRKCSH. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding 0 CTCGGGGGCTCTCCCACCAGC 0.642 NaN 0 0 0 0.01441 0 77 145 CYP4F11 57834 broad.mit.edu 37 19 16045054 16045054 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:16045054C>T uc002nbu.2 - 2 201 c.165G>A c.(163-165)CCG>CCA p.P55P CYP4F11_uc010eab.1_Silent_p.P55P|CYP4F11_uc002nbt.2_Silent_p.P55P NM_001128932 NP_001122404 Q9HBI6 CP4FB_HUMAN cytochrome P450 family 4 subfamily F polypeptide 55 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding ovary(1) 1 AGTTCTGTTTCGGGGGTTGAG 0.612 NaN 0 0 0 0.006999 0 34 70 SIN3B 23309 broad.mit.edu 37 19 16982110 16982110 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:16982110C>T uc002ney.1 + 15 2603 c.2589C>T c.(2587-2589)ATC>ATT p.I863I SIN3B_uc002nez.1_Silent_p.I831I|SIN3B_uc010xpi.1_Silent_p.I421I NM_015260 NP_056075 O75182 SIN3B_HUMAN SIN3 homolog B, transcription regulator 863 cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm protein binding ovary(2) 2 AGGGCAGCATCGACCCCACGC 0.612 NaN 0 0 0 0.01441 0 48 65 RFXANK 8625 broad.mit.edu 37 19 19308943 19308943 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:19308943G>C uc002nls.2 + 7 971 c.466G>C c.(466-468)GAG>CAG p.E156Q RFXANK_uc002nlt.2_Missense_Mutation_p.E133Q|RFXANK_uc002nlu.2_Missense_Mutation_p.E134Q|RFXANK_uc002nlv.2_Missense_Mutation_p.E156Q|RFXANK_uc002nlw.2_Missense_Mutation_p.E155Q NM_003721 NP_003712 O14593 RFXK_HUMAN regulatory factor X-associated 156 ANK 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity ovary(2) 2 Epithelial(12;0.00228) CCTGGCAAAAGAGCGAGAGAG 0.597 NaN 0 0 0 0.01441 0 74 165 NR2C2AP 126382 broad.mit.edu 37 19 19313302 19313302 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:19313302G>C uc002nlx.2 - 3 581 c.212C>G c.(211-213)TCC>TGC p.S71C NR2C2AP_uc010xqq.1_5'Flank|NR2C2AP_uc002nly.2_Missense_Mutation_p.S71C NM_176880 NP_795361 Q86WQ0 NR2CA_HUMAN TR4 orphan receptor associated protein TRA16 71 cell adhesion|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ovary(1) 1 Epithelial(12;0.00235) CCGGCGACTGGAGAAGCCACC 0.617 NaN 0 0 0 0.00278 0 22 68 ZNF14 7561 broad.mit.edu 37 19 19822176 19822176 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:19822176C>T uc002nnk.1 - 4 2068 c.1914G>A c.(1912-1914)ATG>ATA p.M638I NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 638 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) CTTTCTCTCCCATATGAGTCC 0.413 NaN 0 0 0 0.003271 0 32 69 GPI 2821 broad.mit.edu 37 19 34884827 34884827 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:34884827C>G uc002nvg.1 + 12 1021 c.918C>G c.(916-918)CAC>CAG p.H306Q GPI_uc002nvf.2_Missense_Mutation_p.H345Q|GPI_uc010xrv.1_Missense_Mutation_p.H317Q|GPI_uc010xrw.1_Missense_Mutation_p.H278Q|GPI_uc010edl.1_Missense_Mutation_p.H306Q|GPI_uc002nvi.1_5'UTR NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 306 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) AGGACCAGCACTTCCGCACGA 0.627 NaN 0 0 0 0.01441 0 106 454 UBA2 10054 broad.mit.edu 37 19 34949727 34949727 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:34949727A>G uc002nvk.2 + 13 1369 c.1299A>G c.(1297-1299)GCA>GCG p.A433A UBA2_uc010xrx.1_Silent_p.A306A|UBA2_uc002nvl.2_Silent_p.A337A NM_005499 NP_005490 Q9UBT2 SAE2_HUMAN SUMO-1 activating enzyme subunit 2 433 protein sumoylation nucleus ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity ovary(1) 1 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) TGCCTTGTGCACTGGATCCTC 0.433 NaN 0 0 0 0.01441 0 164 106 ZNF546 339327 broad.mit.edu 37 19 40521413 40521413 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:40521413G>A uc002oms.2 + 7 2492 c.2236G>A c.(2236-2238)GAG>AAG p.E746K ZNF546_uc002omt.2_Missense_Mutation_p.E720K NM_178544 NP_848639 Q86UE3 ZN546_HUMAN zinc finger protein 546 746 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1)|skin(1) 3 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCATACTGGTGAGAAACCTTA 0.398 NaN 0 0 0 0.01441 0 150 79 ZFP112 7771 broad.mit.edu 37 19 44833549 44833549 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:44833549C>T uc010ejj.2 - 5 892 c.779G>A c.(778-780)TGT>TAT p.C260Y ZFP112_uc002ozc.3_Missense_Mutation_p.C254Y|ZFP112_uc010xwy.1_Missense_Mutation_p.C277Y|ZFP112_uc010xwz.1_Missense_Mutation_p.C259Y NM_001083335 NP_001076804 Q9UJU3 ZF112_HUMAN zinc finger protein 228 isoform 1 260 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2) 5 ATACCCAGTACATGGATAGGG 0.423 NaN 0 0 0 0.010771 0 44 243 PNMAL2 57469 broad.mit.edu 37 19 46998590 46998590 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:46998590G>A uc002pes.2 - 1 580 c.133C>T c.(133-135)CCC>TCC p.P45S uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 45 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) gtgcccaggggcaggagggtc 0 NaN 0 0 0 0.00874 0 39 168 PNMAL2 57469 broad.mit.edu 37 19 46998594 46998594 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:46998594G>A uc002pes.2 - 1 576 c.129C>T c.(127-129)CTC>CTT p.L43L uc002peu.1_3'UTR NM_020709 NP_065760 Q9ULN7 PNML2_HUMAN PNMA-like 2 43 central_nervous_system(1) 1 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ccaggggcaggagggtcggct 0 NaN 0 0 0 0.007835 0 38 165 ZNF347 84671 broad.mit.edu 37 19 53644201 53644201 + Missense_Mutation SNP T T A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:53644201T>A uc002qbb.1 - 5 1949 c.1880A>T c.(1879-1881)TAT>TTT p.Y627F ZNF347_uc010eql.1_Missense_Mutation_p.Y628F|ZNF347_uc002qbc.1_Missense_Mutation_p.Y628F NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 627 C2H2-type 14; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) ATACTCATTATACTTGTAAGG 0.378 NaN 0 0 0 0.01441 0 198 114 ZNF134 7693 broad.mit.edu 37 19 58131830 58131830 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr19:58131830A>G uc002qpn.2 + 3 442 c.343A>G c.(343-345)ATT>GTT p.I115V ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR NM_003435 NP_003426 P52741 ZN134_HUMAN zinc finger protein 134 115 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265) TGAGGCCTCAATTGTGAAGAA 0.463 NaN 0 0 0 0.01441 0 94 63 APOB 338 broad.mit.edu 37 2 21233836 21233836 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:21233836G>A uc002red.2 - 26 6032 c.5904C>T c.(5902-5904)GTC>GTT p.V1968V NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1968 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCAGGGCACTGACTTTGTGTT 0.453 NaN 0 0 0 0.01441 0 56 105 OTOF 9381 broad.mit.edu 37 2 26717812 26717812 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:26717812C>T uc002rhk.2 - 9 1022 c.895G>A c.(895-897)GAG>AAG p.E299K NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 299 Cytoplasmic (Potential).|C2 1. cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCACTGACCTCGTTGTAATAG 0.572 NaN 0 0 0 0.009535 0 30 82 AGBL5 60509 broad.mit.edu 37 2 27276416 27276416 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:27276416G>A uc002rie.2 + 3 579 c.362G>A c.(361-363)CGC>CAC p.R121H AGBL5_uc002ric.2_Missense_Mutation_p.R121H|AGBL5_uc002rid.2_Missense_Mutation_p.R121H|AGBL5_uc002rif.2_RNA NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN ATP/GTP binding protein-like 5 isoform 1 121 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCTGGGAACGCATTCGAGAC 0.498 NaN 0 0 0 0.006999 0 35 109 CDC42EP3 10602 broad.mit.edu 37 2 37873446 37873446 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:37873446G>A uc002rqi.1 - 2 1278 c.285C>T c.(283-285)TTC>TTT p.F95F NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Cdc42 effector protein 3 95 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding 0 all_hematologic(82;0.172) GCGTTTCTGTGAACACAGAGT 0.532 NaN 0 0 0 0.01441 0 59 128 OXER1 165140 broad.mit.edu 37 2 42990228 42990228 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:42990228G>A uc002rss.2 - 1 1174 c.1092C>T c.(1090-1092)CAC>CAT p.H364H NM_148962 NP_683765 Q8TDS5 OXER1_HUMAN G-protein coupled receptor TG1019 364 Cytoplasmic (Potential). regulation of cAMP biosynthetic process integral to membrane|plasma membrane 5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity breast(1) 1 CCCGGCTCTGGTGGAGGAAGT 0.657 NaN 0 0 0 0.003271 0 31 39 STON1-GTF2A1L 286749 broad.mit.edu 37 2 48808503 48808503 + Nonsense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:48808503C>A uc010yol.1 + 1 778 c.731C>A c.(730-732)TCA>TAA p.S244* STON1_uc002rwo.3_Nonsense_Mutation_p.S244*|STON1_uc010fbm.2_Nonsense_Mutation_p.S244*|STON1-GTF2A1L_uc002rwp.1_Nonsense_Mutation_p.S244*|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Nonsense_Mutation_p.S244* NM_006873 NP_006864 B7ZL16 B7ZL16_HUMAN stonin 1 244 endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter clathrin adaptor complex|transcription factor TFIIA complex ovary(3)|pancreas(1)|skin(1) 5 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) AACCAAGACTCACTTAGAAGT 0.433 NaN 1 0 3.07002e-29 0.01441 3.43119e-29 51 80 UGP2 7360 broad.mit.edu 37 2 64114602 64114602 + Nonsense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:64114602G>T uc002scm.2 + 8 1444 c.1138G>T c.(1138-1140)GAG>TAG p.E380* UGP2_uc002scl.2_Nonsense_Mutation_p.E369*|UGP2_uc010ypx.1_Nonsense_Mutation_p.E389* NM_006759 NP_006750 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 isoform a 380 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity 0 CAAAAGTTTTGAGAATTCTCT 0.423 NaN 1 0 6.84511e-11 0.003271 7.1685e-11 36 79 SPRED2 200734 broad.mit.edu 37 2 65571896 65571896 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:65571896C>T uc002sdr.3 - 2 696 c.161G>A c.(160-162)CGA>CAA p.R54Q SPRED2_uc010fcw.2_Missense_Mutation_p.R51Q|SPRED2_uc010fcx.1_RNA NM_181784 NP_861449 Q7Z698 SPRE2_HUMAN sprouty-related protein with EVH-1 domain 2 54 WH1. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding ovary(1)|lung(1)|central_nervous_system(1) 3 AAAGCCGCTTCGTCCATTGCC 0.512 NaN 0 0 0 0.003163 0 14 22 TANC1 85461 broad.mit.edu 37 2 160006935 160006935 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:160006935G>A uc002uag.2 + 7 824 c.550G>A c.(550-552)GCA>ACA p.A184T TANC1_uc010fol.1_Intron|TANC1_uc010zcm.1_Missense_Mutation_p.A183T|TANC1_uc010fom.1_Intron|TANC1_uc002uah.1_3'UTR NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 184 Ser-rich. cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 AAGCAGCACCGCATCTCCTAG 0.527 NaN 0 0 0 0.007291 0 26 51 TLK1 9874 broad.mit.edu 37 2 172016855 172016855 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:172016855C>T uc002ugn.2 - 1 556 c.84G>A c.(82-84)GCG>GCA p.A28A TLK1_uc002ugo.2_Silent_p.A28A|TLK1_uc002ugp.2_Intron|TLK1_uc002ugq.2_RNA NM_012290 NP_036422 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 isoform 1 28 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1) 1 TGGCCGCCGCCGCCGAGCCCG 0.507 NaN 0 0 0 0.009096 0 4 50 COL3A1 1281 broad.mit.edu 37 2 189876410 189876410 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:189876410G>C uc002uqj.1 + 51 4428 c.4311G>C c.(4309-4311)GTG>GTC p.V1437V NM_000090 NP_000081 P02461 CO3A1_HUMAN collagen type III alpha 1 preproprotein 1437 Fibrillar collagen NC1. axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway collagen type III|extracellular space extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding central_nervous_system(7)|ovary(4)|large_intestine(2) 13 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141) Collagenase(DB00048)|Palifermin(DB00039) GCAAGGCTGTGAGACTACCTA 0.393 NaN 0 0 0 0.005524 0 36 83 ZDBF2 57683 broad.mit.edu 37 2 207171761 207171761 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:207171761C>G uc002vbp.2 + 5 2759 c.2509C>G c.(2509-2511)CTT>GTT p.L837V NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 837 nucleic acid binding|zinc ion binding ovary(3) 3 TGATATTCCTCTTCATTCAGG 0.358 NaN 0 0 0 0.008361 0 29 46 DOCK10 55619 broad.mit.edu 37 2 225796298 225796298 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:225796298C>G uc010fwz.1 - 2 450 c.211G>C c.(211-213)GAT>CAT p.D71H DOCK10_uc002vob.2_Missense_Mutation_p.D65H|DOCK10_uc002vod.1_Missense_Mutation_p.D71H NM_014689 NP_055504 Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 71 GTP binding ovary(2) 2 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) AACAAGAGATCTTGAAGAGGA 0.428 NaN 0 0 0 0.00308 0 7 18 COL6A3 1293 broad.mit.edu 37 2 238305397 238305397 + Missense_Mutation SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:238305397T>C uc002vwl.2 - 2 349 c.64A>G c.(64-66)ACA>GCA p.T22A COL6A3_uc002vwo.2_Missense_Mutation_p.T22A|COL6A3_uc010znj.1_Missense_Mutation_p.T22A|COL6A3_uc002vwq.2_Missense_Mutation_p.T22A|COL6A3_uc002vwr.2_Missense_Mutation_p.T22A|COL6A3_uc010znk.1_Missense_Mutation_p.T22A NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 22 axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GCATGAGTTGTAGGAAAGCCT 0.418 NaN 0 0 0 0.01441 0 54 89 ANKMY1 51281 broad.mit.edu 37 2 241421610 241421610 + Nonsense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:241421610C>A uc002vyz.1 - 15 2837 c.2608G>T c.(2608-2610)GAG>TAG p.E870* ANKMY1_uc002vza.1_Nonsense_Mutation_p.E646*|ANKMY1_uc010fzd.1_Nonsense_Mutation_p.E959*|ANKMY1_uc002vzb.1_Nonsense_Mutation_p.E631*|ANKMY1_uc002vzc.1_Nonsense_Mutation_p.E649*|ANKMY1_uc002vzd.1_Nonsense_Mutation_p.E693* NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 870 zinc ion binding central_nervous_system(1) 1 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) TGCCCCTGCTCCTTCACATCC 0.612 NaN 1 0 1.30998e-17 0.005524 1.41649e-17 34 70 PASK 23178 broad.mit.edu 37 2 242082263 242082263 + Missense_Mutation SNP G G A rs144572631 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr2:242082263G>A uc002wao.1 - 2 277 c.185C>T c.(184-186)ACA>ATA p.T62I PASK_uc010zol.1_Nonsense_Mutation_p.Q11*|PASK_uc010zom.1_Missense_Mutation_p.T62I|PASK_uc010fzl.1_Missense_Mutation_p.T62I|PASK_uc010zon.1_Intron|PASK_uc002waq.2_Missense_Mutation_p.T62I NM_015148 NP_055963 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 62 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity ovary(4)|lung(1)|skin(1) 6 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) AGAGAGCGCTGTCCTGCTCTG 0.562 NaN 0 0 0 0.009096 0 4 50 PAK7 57144 broad.mit.edu 37 20 9561367 9561367 + Missense_Mutation SNP C C A rs144997856 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:9561367C>A uc002wnl.2 - 5 960 c.415G>T c.(415-417)GCT>TCT p.A139S PAK7_uc002wnk.2_Missense_Mutation_p.A139S|PAK7_uc002wnj.2_Missense_Mutation_p.A139S|PAK7_uc010gby.1_Missense_Mutation_p.A139S NM_020341 NP_065074 Q9P286 PAK7_HUMAN p21-activated kinase 7 139 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1) 23 COAD - Colon adenocarcinoma(9;0.194) GTGTAGTCAGCAGTAGTATCG 0.537 NaN 1 0 4.68919e-08 0.008291 4.87236e-08 10 183 SSTR4 6754 broad.mit.edu 37 20 23017195 23017195 + Missense_Mutation SNP T T G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:23017195T>G uc002wsr.2 + 1 1139 c.1075T>G c.(1075-1077)TGC>GGC p.C359G NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 359 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGGGGCAGGGTGCATGTGCCC 0.652 NaN 0 0 0 0.013114 0 40 28 HCK 3055 broad.mit.edu 37 20 30676371 30676371 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:30676371G>T uc002wxh.2 + 10 1187 c.1016G>T c.(1015-1017)GGA>GTA p.G339V HCK_uc010gdy.2_Missense_Mutation_p.G318V|HCK_uc002wxi.2_Missense_Mutation_p.G317V NM_002110 NP_002101 P08631 HCK_HUMAN hemopoietic cell kinase isoform p61HCK 339 Protein kinase. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(4)|ovary(2)|central_nervous_system(2)|pancreas(1) 9 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCCATATAGGAAGCTTGCTG 0.378 NaN 1 0 6.38683e-12 0.008361 6.74166e-12 29 99 RBM39 9584 broad.mit.edu 37 20 34312571 34312571 + Missense_Mutation SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:34312571T>C uc002xeb.2 - 8 952 c.608A>G c.(607-609)GAT>GGT p.D203G RBM39_uc002xdz.2_Missense_Mutation_p.D179G|RBM39_uc002xea.2_Missense_Mutation_p.D46G|RBM39_uc010gfn.2_Missense_Mutation_p.D46G|RBM39_uc010zvm.1_Missense_Mutation_p.D181G|RBM39_uc002xeg.2_Missense_Mutation_p.D181G|RBM39_uc002xec.2_Missense_Mutation_p.D203G|RBM39_uc002xed.2_5'UTR|RBM39_uc002xee.2_Missense_Mutation_p.D46G|RBM39_uc002xef.2_Missense_Mutation_p.D46G|RBM39_uc010zvn.1_Missense_Mutation_p.D46G NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 203 RRM 1. mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TGAGCTAACATCGACGAACTC 0.413 NaN 0 0 0 0.01441 0 73 184 DLGAP4 22839 broad.mit.edu 37 20 35060846 35060846 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:35060846C>A uc002xff.2 + 3 1161 c.726C>A c.(724-726)TTC>TTA p.F242L DLGAP4_uc010zvp.1_Missense_Mutation_p.F242L NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 242 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CACGCTACTTCATGCACGCCT 0.637 NaN 1 0 2.77807e-22 0.013114 3.05358e-22 41 125 SLC12A5 57468 broad.mit.edu 37 20 44669042 44669042 + Missense_Mutation SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:44669042A>G uc010zxl.1 + 7 788 c.712A>G c.(712-714)AAG>GAG p.K238E SLC12A5_uc002xra.2_Missense_Mutation_p.K215E|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.K215E NM_001134771 NP_001128243 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium-chloride 238 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1) 5 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCCATCTTCAAGGCAGAAGA 0.547 NaN 0 0 0 0.01441 0 91 282 SLC13A3 64849 broad.mit.edu 37 20 45216772 45216772 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:45216772G>C uc002xsf.1 - 8 1085 c.1047C>G c.(1045-1047)TTC>TTG p.F349L SLC13A3_uc010ghn.1_Missense_Mutation_p.F318L|SLC13A3_uc010zxw.1_Missense_Mutation_p.F299L|SLC13A3_uc002xsg.1_Missense_Mutation_p.F302L|SLC13A3_uc010gho.1_Intron|SLC13A3_uc010zxx.1_Missense_Mutation_p.F251L NM_022829 NP_073740 Q8WWT9 S13A3_HUMAN solute carrier family 13 member 3 isoform a 349 Helical; (Potential). integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity ovary(1) 1 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) CAAACATGCAGAAAAGGATGA 0.592 NaN 0 0 0 0.003163 0 14 58 KCNB1 3745 broad.mit.edu 37 20 47990422 47990422 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr20:47990422C>G uc002xur.1 - 2 1839 c.1675G>C c.(1675-1677)GAA>CAA p.E559Q KCNB1_uc002xus.1_Missense_Mutation_p.E559Q NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 559 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATTTCAAGTTCTTCCTTTGGT 0.493 NaN 0 0 0 0.01441 0 81 174 RNF160 26046 broad.mit.edu 37 21 30307608 30307608 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:30307608T>C uc002ymr.2 - 27 4849 c.4836A>G c.(4834-4836)TCA>TCG p.S1612S NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1566 ligase activity|zinc ion binding 0 TATGATAGACTGAACAAGCCA 0.343 NaN 0 0 0 0.00245 0 15 34 HUNK 30811 broad.mit.edu 37 21 33368255 33368255 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:33368255G>T uc002yph.2 + 10 1840 c.1480G>T c.(1480-1482)GAC>TAC p.D494Y NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 494 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 CAGCTTCCCCGACAAAGGTGG 0.602 NaN 1 0 7.48243e-07 0.006214 7.71444e-07 10 24 UBASH3A 53347 broad.mit.edu 37 21 43838679 43838679 + Missense_Mutation SNP C C T rs141628178 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:43838679C>T uc002zbe.2 + 7 1043 c.1007C>T c.(1006-1008)ACG>ATG p.T336M UBASH3A_uc002zbf.2_Missense_Mutation_p.T298M|UBASH3A_uc010gpc.2_RNA|UBASH3A_uc010gpd.2_RNA|UBASH3A_uc010gpe.2_Missense_Mutation_p.T298M NM_018961 NP_061834 P57075 UBS3A_HUMAN ubiquitin associated and SH3 domain containing, 336 SH3. cytosol|nucleus ovary(3) 3 GAAAACTACACGGATCGAGCC 0.612 NaN 0 0 0 0.014323 0 20 28 LSS 4047 broad.mit.edu 37 21 47648499 47648499 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr21:47648499C>A uc002zij.2 - 2 108 c.29G>T c.(28-30)CGA>CTA p.R10L LSS_uc011afv.1_Missense_Mutation_p.R10L|LSS_uc002zil.2_Missense_Mutation_p.R10L|LSS_uc002zik.2_5'UTR|MCM3APAS_uc002zim.2_5'Flank|MCM3APAS_uc002zin.2_5'Flank NM_001001438 NP_001001438 P48449 ERG7_HUMAN lanosterol synthase isoform 1 10 cholesterol biosynthetic process endoplasmic reticulum membrane lanosterol synthase activity 0 Breast(49;0.214) GGGGCCCCCTCGGCGCCGCAG 0.746 NaN 1 0 1.23904e-05 0.000602 1.26278e-05 5 8 PEX26 55670 broad.mit.edu 37 22 18567938 18567938 + Missense_Mutation SNP C C T rs149153003 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:18567938C>T uc002znp.3 + 5 937 c.728C>T c.(727-729)GCG>GTG p.A243V TUBA8_uc002znr.2_Intron|PEX26_uc002znq.3_Missense_Mutation_p.A243V|PEX26_uc002znt.2_Intron NM_017929 NP_060399 Q7Z412 PEX26_HUMAN peroxisome biogenesis factor 26 243 Cytoplasmic (Potential). protein import into peroxisome matrix|protein import into peroxisome membrane integral to peroxisomal membrane protein C-terminus binding|protein complex binding skin(1) 1 TGGGACTCTGCGGTGAGCCAC 0.542 NaN 0 0 0 0.000602 0 5 85 CDC45 8318 broad.mit.edu 37 22 19504100 19504100 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:19504100G>A uc002zpr.2 + 16 1567 c.1491G>A c.(1489-1491)CTG>CTA p.L497L CDC45_uc011aha.1_Silent_p.L529L|CDC45_uc002zps.2_Silent_p.L497L|CDC45_uc002zpt.2_Silent_p.L451L NM_003504 NP_003495 O75419 CDC45_HUMAN CDC45-like 497 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding lung(1) 1 CTGCCCCCCTGAGCATGGAGC 0.632 NaN 0 0 0 0.00333 0 22 35 COMT 1312 broad.mit.edu 37 22 19951738 19951738 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:19951738G>A uc002zqu.2 + 5 780 c.531G>A c.(529-531)AAG>AAA p.K177K COMT_uc002zqt.2_Silent_p.K177K|COMT_uc002zqv.2_Silent_p.K177K|COMT_uc002zqw.2_Silent_p.K177K|COMT_uc011ahd.1_Silent_p.K177K|COMT_uc002zqx.2_Silent_p.K177K NM_000754 NP_000745 P21964 COMT_HUMAN catechol-O-methyltransferase isoform MB-COMT 177 neurotransmitter biosynthetic process|neurotransmitter catabolic process|xenobiotic metabolic process cytosol|integral to membrane|intracellular membrane-bounded organelle|microsome|plasma membrane|soluble fraction catechol O-methyltransferase activity|magnesium ion binding|protein binding ovary(1) 1 Colorectal(54;0.0993) Carbidopa(DB00190)|Conjugated Estrogens(DB00286)|Diethylstilbestrol(DB00255)|Dobutamine(DB00841)|Dopamine(DB00988)|Entacapone(DB00494)|Folic Acid(DB00158)|L-Valine(DB00161)|Levodopa(DB01235)|Methyldopa(DB00968)|Modafinil(DB00745)|Morphine(DB00295)|S-Adenosylmethionine(DB00118)|Tolcapone(DB00323) CCCAGCTGAAGAAGAAGTATG 0.592 NaN 0 0 0 0.01441 0 61 111 OSM 5008 broad.mit.edu 37 22 30659991 30659991 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:30659991C>T uc003ahb.2 - 3 692 c.640G>A c.(640-642)GAG>AAG p.E214K NM_020530 NP_065391 P13725 ONCM_HUMAN oncostatin M precursor 214 cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth extracellular space|oncostatin-M receptor complex cytokine activity|growth factor activity|oncostatin-M receptor binding skin(1) 1 Epithelial(10;0.206) TTCGGGCTCTCCCCCCACTTG 0.637 NaN 0 0 0 0.004878 0 39 59 WNT7B 7477 broad.mit.edu 37 22 46319096 46319096 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr22:46319096C>T uc003bgo.2 - 4 1064 c.690G>A c.(688-690)GAG>GAA p.E230E WNT7B_uc010haa.2_Silent_p.E234E NM_058238 NP_478679 P56706 WNT7B_HUMAN wingless-type MMTV integration site family, 230 activation of JUN kinase activity|anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|central nervous system vasculogenesis|chorio-allantoic fusion|developmental growth involved in morphogenesis|embryonic placenta morphogenesis|establishment or maintenance of polarity of embryonic epithelium|fibroblast proliferation|forebrain regionalization|inner medullary collecting duct development|lens fiber cell development|lobar bronchus development|lung epithelium development|lung morphogenesis|lung-associated mesenchyme development|mammary gland epithelium development|metanephric collecting duct development|metanephric loop of Henle development|metanephros morphogenesis|negative regulation of smoothened signaling pathway|outer medullary collecting duct development|oxygen homeostasis|positive regulation of JNK cascade|positive regulation of osteoblast differentiation|renal inner medulla development|renal outer medulla development|stem cell proliferation|synapse organization|trachea cartilage morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|frizzled binding|signal transducer activity lung(1) 1 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|LUAD - Lung adenocarcinoma(64;0.247) CGTTGTACTTCTCCTTCAGCA 0.642 NaN 0 0 0 0.003271 0 31 43 TGM4 7047 broad.mit.edu 37 3 44943289 44943289 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:44943289G>C uc003coc.3 + 8 910 c.837G>C c.(835-837)CTG>CTC p.L279L NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 279 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) TTTCAGTGCTGAGAGCGTTGG 0.587 NaN 0 0 0 0.003163 0 15 33 SETD2 29072 broad.mit.edu 37 3 47147508 47147508 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:47147508G>A uc003cqs.2 - 6 4871 c.4818C>T c.(4816-4818)TTC>TTT p.F1606F SETD2_uc003cqv.2_Silent_p.F1595F NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1606 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) TCAGGGCCATGAAATAGTAAT 0.378 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.01441 0 55 130 ROBO1 6091 broad.mit.edu 37 3 78676636 78676636 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:78676636C>T uc003dqe.2 - 26 3918 c.3710G>A c.(3709-3711)CGA>CAA p.R1237Q ROBO1_uc003dqb.2_Missense_Mutation_p.R1198Q|ROBO1_uc003dqc.2_Missense_Mutation_p.R1137Q|ROBO1_uc003dqd.2_Missense_Mutation_p.R1192Q|ROBO1_uc010hoh.2_Missense_Mutation_p.R429Q|ROBO1_uc011bgl.1_Missense_Mutation_p.R809Q NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1237 Cytoplasmic (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGTGGGGCCTCGTTCATCTTC 0.507 NaN 0 0 0 0.00499 0 18 28 TFG 10342 broad.mit.edu 37 3 100463742 100463742 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:100463742C>T uc003due.2 + 7 1236 c.787C>T c.(787-789)CAG>TAG p.Q263* TFG_uc003duf.2_Nonsense_Mutation_p.Q263*|TFG_uc003dug.2_Nonsense_Mutation_p.Q259*|TFG_uc003duh.2_Nonsense_Mutation_p.Q259*|TFG_uc003dui.2_Nonsense_Mutation_p.Q263* NM_006070 NP_006061 Q92734 TFG_HUMAN TRK-fused 263 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm signal transducer activity TFG/ALK(7) haematopoietic_and_lymphoid_tissue(7)|lung(2)|large_intestine(1)|prostate(1) 11 GGCTCCACCTCAGCAGCCTCA 0.463 NaN T NTRK1|ALK papillary thyroid|ALCL|NSCLC 0 0 0 0.01441 0 49 112 EEFSEC 60678 broad.mit.edu 37 3 128060617 128060617 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:128060617G>T uc003eki.2 + 5 1366 c.1328G>T c.(1327-1329)CGG>CTG p.R443L EEFSEC_uc003ekj.2_Missense_Mutation_p.R388L NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 443 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 AACACGTGCCGGCTAGCCTTC 0.602 NaN 1 0 2.74695e-27 0.01441 3.04454e-27 47 73 FGFR3 2261 broad.mit.edu 37 4 1803568 1803568 + Missense_Mutation SNP C C G rs121913483 TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1803568C>G uc003gdr.3 + 7 1002 c.746C>G c.(745-747)TCC>TGC p.S249C FGFR3_uc003gdu.2_Missense_Mutation_p.S249C|FGFR3_uc003gds.3_Missense_Mutation_p.S249C|FGFR3_uc003gdq.3_Missense_Mutation_p.S249C|FGFR3_uc010icb.1_Missense_Mutation_p.S91C|FGFR3_uc003gdt.1_Missense_Mutation_p.S91C NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 249 Extracellular (Potential). S -> C (in KERSEB, bladder cancer, cervical cancer and TD1). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.S249C(1368)|p.R248_S249insC(2)|p.S249T(1)|p.R248_S249del(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) ACAGAGCGCTCCCCGCACCGG 0.562 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.01441 0 38 10 FGFR3 2261 broad.mit.edu 37 4 1805533 1805533 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1805533C>T uc003gdr.3 + 8 1301 c.1045C>T c.(1045-1047)CAT>TAT p.H349Y FGFR3_uc003gdu.2_Intron|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Missense_Mutation_p.H349Y|FGFR3_uc010icb.1_Missense_Mutation_p.H157Y|FGFR3_uc003gdt.1_Missense_Mutation_p.H178Y NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 349 Ig-like C2-type 3.|Extracellular (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) TGGGTTTTCTCATCACTCTGC 0.612 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.01441 0 96 30 FGFR3 2261 broad.mit.edu 37 4 1806112 1806112 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1806112C>T uc003gdr.3 + 9 1387 c.1131C>T c.(1129-1131)CTC>CTT p.L377L FGFR3_uc003gdu.2_Silent_p.L379L|FGFR3_uc003gds.3_Intron|FGFR3_uc003gdq.3_Silent_p.L377L NM_000142 NP_000133 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 isoform 1 377 Helical; (Potential). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding p.L377L(1) urinary_tract(2177)|skin(314)|upper_aerodigestive_tract(57)|haematopoietic_and_lymphoid_tissue(24)|prostate(9)|cervix(6)|central_nervous_system(4)|large_intestine(3)|lung(3)|testis(2)|pancreas(1) 2600 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) CAGGCATCCTCAGCTACGGGG 0.687 1 Mis|T IGH@|ETV6 bladder|MM|T-cell lymphoma Hypochondroplasia|Thanatophoric dysplasia Muenke_syndrome|Saethre-Chotzen_syndrome 0 0 0 0.01441 0 334 70 C4orf21 55345 broad.mit.edu 37 4 113545020 113545020 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:113545020C>G uc003iau.2 - 4 326 c.115G>C c.(115-117)GAT>CAT p.D39H C4orf21_uc003iaw.2_Missense_Mutation_p.D39H NM_018392 NP_060862 Q6ZU11 YD002_HUMAN prematurely terminated mRNA decay factor-like Error:Variant_position_missing_in_Q6ZU11_after_alignment integral to membrane zinc ion binding 0 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) CCTTTGTCATCATATAAAATT 0.254 NaN 0 0 0 0.009718 0 39 9 SH3RF1 57630 broad.mit.edu 37 4 170038745 170038745 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:170038745G>C uc003isa.1 - 9 2041 c.1706C>G c.(1705-1707)CCT>CGT p.P569R SH3RF1_uc010irc.1_Missense_Mutation_p.P269R NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 569 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) CTTAGCCTGAGGACTTGTCTG 0.582 NaN 0 0 0 0.01441 0 79 89 SH3RF1 57630 broad.mit.edu 37 4 170038769 170038769 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:170038769G>A uc003isa.1 - 9 2017 c.1682C>T c.(1681-1683)TCA>TTA p.S561L SH3RF1_uc010irc.1_Missense_Mutation_p.S261L NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 561 Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) GTGAGCTGCTGATACCACAGC 0.587 NaN 0 0 0 0.01441 0 74 90 SH3RF1 57630 broad.mit.edu 37 4 170038903 170038903 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:170038903G>A uc003isa.1 - 9 1883 c.1548C>T c.(1546-1548)GTC>GTT p.V516V SH3RF1_uc010irc.1_Silent_p.V216V NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 516 Interaction with AKT2 (By similarity). Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TAGACATAGGGACTTTAGCTT 0.527 NaN 0 0 0 0.005443 0 26 38 KIAA1430 57587 broad.mit.edu 37 4 186111756 186111756 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:186111756C>T uc003ixf.3 - 2 742 c.595G>A c.(595-597)GAT>AAT p.D199N KIAA1430_uc003ixg.2_Missense_Mutation_p.D199N NM_020827 NP_065878 Q9P2B7 K1430_HUMAN hypothetical protein LOC57587 199 Ser-rich. 0 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165) GGAGACGAATCAGATAGATGG 0.318 NaN 0 0 0 0.00499 0 18 4 TRIML1 339976 broad.mit.edu 37 4 189061706 189061706 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:189061706C>G uc003izm.1 + 2 548 c.433C>G c.(433-435)CTT>GTT p.L145V NM_178556 NP_848651 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 145 Potential. multicellular organismal development ligase activity|zinc ion binding ovary(1)|pancreas(1)|breast(1)|skin(1) 4 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) AATCCTGAATCTTTTGCGTGT 0.478 NaN 0 0 0 0.01441 0 100 34 ADAMTS16 170690 broad.mit.edu 37 5 5237159 5237159 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:5237159G>A uc003jdl.2 + 14 2239 c.2101G>A c.(2101-2103)GGG>AGG p.G701R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G701R|ADAMTS16_uc010itk.1_Intron NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 701 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 AGTCAAAGATGGGACTCCATG 0.308 NaN 0 0 0 0.007835 0 42 96 RAI14 26064 broad.mit.edu 37 5 34823332 34823332 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:34823332G>C uc003jir.2 + 15 1581 c.1385G>C c.(1384-1386)CGA>CCA p.R462P RAI14_uc010iur.2_Missense_Mutation_p.R433P|RAI14_uc011coj.1_Missense_Mutation_p.R462P|RAI14_uc003jis.2_Missense_Mutation_p.R465P|RAI14_uc003jit.2_Missense_Mutation_p.R462P|RAI14_uc011cok.1_Missense_Mutation_p.R454P NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 462 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CTCCAATCCCGAAGGGCAGAA 0.443 NaN 0 0 0 0.005524 0 37 67 RAI14 26064 broad.mit.edu 37 5 34823439 34823439 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:34823439G>C uc003jir.2 + 15 1688 c.1492G>C c.(1492-1494)GAA>CAA p.E498Q RAI14_uc010iur.2_Missense_Mutation_p.E469Q|RAI14_uc011coj.1_Missense_Mutation_p.E498Q|RAI14_uc003jis.2_Missense_Mutation_p.E501Q|RAI14_uc003jit.2_Missense_Mutation_p.E498Q|RAI14_uc011cok.1_Missense_Mutation_p.E490Q NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 498 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) GGCTATGAAAGAAGTCCTTAG 0.438 NaN 0 0 0 0.006999 0 37 49 RAI14 26064 broad.mit.edu 37 5 34824386 34824386 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:34824386G>C uc003jir.2 + 15 2635 c.2439G>C c.(2437-2439)GAG>GAC p.E813D RAI14_uc010iur.2_Missense_Mutation_p.E784D|RAI14_uc011coj.1_Missense_Mutation_p.E813D|RAI14_uc003jis.2_Missense_Mutation_p.E816D|RAI14_uc003jit.2_Missense_Mutation_p.E813D|RAI14_uc011cok.1_Missense_Mutation_p.E805D NM_015577 NP_056392 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 isoform a 813 Potential. cell cortex|cytoskeleton protein binding ovary(1) 1 all_lung(31;0.000191) CTGTGAAAGAGAAAGAGAAGG 0.413 NaN 0 0 0 0.01441 0 60 128 C5orf42 65250 broad.mit.edu 37 5 37173929 37173929 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:37173929G>A uc011cpa.1 - 32 6330 c.6099C>T c.(6097-6099)TTC>TTT p.F2033F C5orf42_uc011coy.1_Silent_p.F533F|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.F1108F|C5orf42_uc003jkr.1_Silent_p.F66F NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2033 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) ACTGAGCCGTGAATTCATTTC 0.403 NaN 0 0 0 0.01441 0 64 91 GDNF 2668 broad.mit.edu 37 5 37816164 37816164 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:37816164C>T uc011cpi.1 - 3 425 c.225G>A c.(223-225)CTG>CTA p.L75L GDNF_uc011cpc.1_Intron|GDNF_uc011cpd.1_Silent_p.L23L|GDNF_uc011cpe.1_Silent_p.L49L|GDNF_uc011cpf.1_Silent_p.L49L|GDNF_uc011cpg.1_Silent_p.L92L|GDNF_uc011cph.1_Silent_p.L66L NM_000514 NP_000505 P39905 GDNF_HUMAN glial cell derived neurotrophic factor isoform 1 75 adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development extracellular region growth factor activity|protein homodimerization activity 0 all_lung(31;0.00118) GTGACCTTTTCAGTCTTTTAA 0.438 NaN 0 0 0 0.00874 0 41 89 NNT 23530 broad.mit.edu 37 5 43628317 43628317 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:43628317A>G uc003joe.2 + 7 1047 c.792A>G c.(790-792)GAA>GAG p.E264E NNT_uc003jof.2_Silent_p.E264E NM_012343 NP_036475 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 264 Mitochondrial matrix. tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding ovary(2)|central_nervous_system(1) 3 Lung NSC(6;2.58e-06) NADH(DB00157) CAGCTTTGGAACAGTTCAAGT 0.413 NaN 0 0 0 0.01441 0 72 138 SKIV2L2 23517 broad.mit.edu 37 5 54640370 54640370 + Silent SNP A A G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:54640370A>G uc003jpy.3 + 9 1193 c.927A>G c.(925-927)ACA>ACG p.T309T SKIV2L2_uc011cqi.1_Silent_p.T208T NM_015360 NP_056175 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 309 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) TTATTTACACAGATTATCGGC 0.348 NaN 0 0 0 0.007413 0 16 35 POC5 134359 broad.mit.edu 37 5 74984960 74984960 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:74984960C>T uc003keh.3 - 9 1203 c.1006G>A c.(1006-1008)GAG>AAG p.E336K POC5_uc010izu.2_Missense_Mutation_p.E219K|POC5_uc003keg.3_Missense_Mutation_p.E311K NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 336 Potential. cell cycle centriole lung(1) 1 CTTTGAATCTCAGCTTTTGCA 0.308 NaN 0 0 0 0.000602 0 5 11 RASA1 5921 broad.mit.edu 37 5 86670043 86670043 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:86670043C>T uc003kiw.2 + 14 1958 c.1840C>T c.(1840-1842)CCA>TCA p.P614S RASA1_uc010jav.2_RNA|RASA1_uc003kix.2_Missense_Mutation_p.P437S|RASA1_uc011ctv.1_Missense_Mutation_p.P447S|RASA1_uc011ctw.1_Missense_Mutation_p.P448S|RASA1_uc010jaw.2_Missense_Mutation_p.P436S NM_002890 NP_002881 P20936 RASA1_HUMAN RAS p21 protein activator 1 isoform 1 614 C2. cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis cytosol|intrinsic to internal side of plasma membrane glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding upper_aerodigestive_tract(3)|ovary(1)|lung(1) 5 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TTTTACTAATCCATATTGTAA 0.338 NaN 0 0 0 0.004656 0 27 30 C5orf48 389320 broad.mit.edu 37 5 125967431 125967431 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:125967431C>A uc003kub.1 + 1 18 c.5C>A c.(4-6)GCT>GAT p.A2D NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN hypothetical protein LOC389320 2 ovary(1) 1 TCAGGAATGGCTTCAGGGAAA 0.378 NaN 1 0 4.7796e-09 0.004656 4.98578e-09 25 76 C5orf48 389320 broad.mit.edu 37 5 125967495 125967495 + Silent SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:125967495C>G uc003kub.1 + 1 82 c.69C>G c.(67-69)CTC>CTG p.L23L NM_207408 NP_997291 Q6ZNM6 CE048_HUMAN hypothetical protein LOC389320 23 ovary(1) 1 ATGAGAGTCTCTATAAATCTG 0.398 NaN 0 0 0 0.007291 0 27 66 FBN2 2201 broad.mit.edu 37 5 127654607 127654607 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:127654607C>T uc003kuu.2 - 35 4997 c.4558G>A c.(4558-4560)GGT>AGT p.G1520S NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 1520 EGF-like 25; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AATTCATAACCATCATCGCAG 0.378 NaN 0 0 0 0.005443 0 29 83 PCDHGA5 56110 broad.mit.edu 37 5 140744002 140744002 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:140744002G>A uc003lju.1 + 1 105 c.105G>A c.(103-105)ATG>ATA p.M35I PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc011das.1_Missense_Mutation_p.M35I NM_018918 NP_061741 Q9Y5G8 PCDG5_HUMAN protocadherin gamma subfamily A, 5 isoform 1 35 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTACTCGATGCCGGAGGAGC 0.667 NaN 0 0 0 0.003954 0 27 37 FAM193B 54540 broad.mit.edu 37 5 176951275 176951275 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:176951275G>A uc003mhs.3 - 8 3697 c.2108C>T c.(2107-2109)CCA>CTA p.P703L FAM193B_uc003mhr.2_Missense_Mutation_p.S240L|FAM193B_uc003mht.2_Missense_Mutation_p.S362L|FAM193B_uc003mhu.2_Missense_Mutation_p.S415L|FAM193B_uc003mhv.2_Missense_Mutation_p.S362L|FAM193B_uc003mhw.2_RNA NM_019057 NP_061930 E9PET5 E9PET5_HUMAN hypothetical protein LOC54540 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 0 TGCTGGGCCTGAGGGCTGCAC 0.667 NaN 0 0 0 0.000602 0 5 5 CANX 821 broad.mit.edu 37 5 179151700 179151700 + Nonsense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr5:179151700C>T uc003mkk.2 + 13 1738 c.1561C>T c.(1561-1563)CAA>TAA p.Q521* CANX_uc011dgp.1_Nonsense_Mutation_p.Q556*|CANX_uc003mkl.2_Nonsense_Mutation_p.Q521*|CANX_uc011dgq.1_Nonsense_Mutation_p.Q413* NM_001746 NP_001737 P27824 CALX_HUMAN calnexin precursor 521 Cytoplasmic (Potential). post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding 0 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) TGATGCACCTCAACCGGATGT 0.239 NaN 0 0 0 0.00623 0 38 74 VARS 7407 broad.mit.edu 37 6 31760563 31760563 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:31760563G>A uc003nxe.2 - 4 1055 c.632C>T c.(631-633)TCA>TTA p.S211L VARS_uc011doi.1_RNA NM_006295 NP_006286 P26640 SYVC_HUMAN valyl-tRNA synthetase 211 GST C-terminal. translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 L-Valine(DB00161) CCTGGCTCCTGAGTATAGAAC 0.562 NaN 0 0 0 0.01441 0 68 25 GPR110 266977 broad.mit.edu 37 6 46977913 46977913 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:46977913G>C uc003oyt.2 - 11 1457 c.1258C>G c.(1258-1260)CTT>GTT p.L420V GPR110_uc011dwl.1_Missense_Mutation_p.L108V NM_153840 NP_722582 Q5T601 GP110_HUMAN G-protein coupled receptor 110 isoform 1 420 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|pancreas(1) 3 TTCAGAGGAAGAGCTGTCGGA 0.438 NaN 0 0 0 0.010818 0 32 103 PRIM2 5558 broad.mit.edu 37 6 57512667 57512667 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:57512667G>A uc003pdx.2 + 15 1582 c.1495G>A c.(1495-1497)GAA>AAA p.E499K NM_000947 NP_000938 P49643 PRI2_HUMAN DNA primase polypeptide 2 499 DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication alpha DNA polymerase:primase complex|nucleoplasm 4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding 0 Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193) AATGGATATGGAAGGACTAGA 0.388 NaN 0 0 0 0.01441 0 70 620 ANKRD6 22881 broad.mit.edu 37 6 90327727 90327727 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:90327727C>G uc003pni.3 + 9 1110 c.769C>G c.(769-771)CTT>GTT p.L257V ANKRD6_uc003pne.3_Missense_Mutation_p.L257V|ANKRD6_uc003pnf.3_Missense_Mutation_p.L257V|ANKRD6_uc011dzy.1_Missense_Mutation_p.L257V|ANKRD6_uc010kcd.2_Intron|LYRM2_uc010kce.1_Intron|LYRM2_uc003png.2_Intron|ANKRD6_uc003pnh.3_5'UTR NM_014942 NP_055757 Q9Y2G4 ANKR6_HUMAN ankyrin repeat domain 6 257 ANK 8. protein binding ovary(2)|pancreas(1) 3 all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239) BRCA - Breast invasive adenocarcinoma(108;0.0209) GGAAGTTGCTCTTCTCCTTAC 0.542 NaN 0 0 0 0.01441 0 65 47 C6orf182 285753 broad.mit.edu 37 6 109471320 109471320 + Splice_Site SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr6:109471320G>C uc010kdk.2 + 6 918 c.341_splice c.e6-1 p.D114_splice C6orf182_uc003psv.3_Intron|C6orf182_uc003psw.3_Splice_Site_p.D114_splice|C6orf182_uc003psx.3_Splice_Site_p.D114_splice|C6orf182_uc010kdl.2_Splice_Site_p.D114_splice|C6orf182_uc003psy.3_Splice_Site_p.D114_splice NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) ttatttcATAGATATAAGTAT 0.194 NaN 0 0 0 0.01441 0 55 25 PMS2 5395 broad.mit.edu 37 7 6045538 6045538 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:6045538C>G uc003spl.2 - 2 235 c.148G>C c.(148-150)GGT>CGT p.G50R PMS2_uc003spj.2_5'Flank|PMS2_uc003spk.2_5'UTR|PMS2_uc011jwl.1_Intron|PMS2_uc010ktg.2_5'UTR|PMS2_uc010kte.2_Missense_Mutation_p.G50R|PMS2_uc010ktf.1_Missense_Mutation_p.G50R NM_000535 NP_000526 P54278 PMS2_HUMAN PMS2 postmeiotic segregation increased 2 isoform 50 mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes MutLalpha complex ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding lung(1)|central_nervous_system(1) 2 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15) TTAGTGGCACCAGCATCCAGA 0.398 NaN Mis|N|F colorectal|endometrial|ovarian|medulloblastoma|glioma Direct_reversal_of_damage|MMR Lynch_syndrome|Turcot_syndrome|Constitutional_Mismatch_Repair_Deficiency_Syndrome 0 0 0 0.01441 0 175 379 TMEM195 392636 broad.mit.edu 37 7 15430465 15430465 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:15430465C>T uc003stb.1 - 7 912 c.742G>A c.(742-744)GGG>AGG p.G248R NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN transmembrane protein 195 248 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding 0 TTTTACTTACCAAAAATTTTA 0.264 NaN 0 0 0 0.007291 0 29 43 AGR3 155465 broad.mit.edu 37 7 16913467 16913467 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:16913467C>T uc003sts.2 - 3 183 c.110G>A c.(109-111)GGA>GAA p.G37E NM_176813 NP_789783 Q8TD06 AGR3_HUMAN breast cancer membrane protein 11 precursor 37 extracellular region 0 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) ATCTCCCCATCCTGAAATAGA 0.353 NaN 0 0 0 0.007291 0 26 47 DFNA5 1687 broad.mit.edu 37 7 24784190 24784190 + Missense_Mutation SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:24784190G>C uc010kus.1 - 3 483 c.395C>G c.(394-396)TCT>TGT p.S132C DFNA5_uc003swz.2_5'UTR|DFNA5_uc003sxa.1_Missense_Mutation_p.S132C|DFNA5_uc010kut.1_5'UTR|DFNA5_uc003sxb.2_Missense_Mutation_p.S132C|DFNA5_uc003sxc.2_Missense_Mutation_p.S132C NM_001127453 NP_001120925 O60443 DFNA5_HUMAN deafness, autosomal dominant 5 protein isoform 132 sensory perception of sound ovary(1) 1 CCTCTCGGCAGAGTCTCTGAT 0.493 NaN 0 0 0 0.01441 0 59 73 OSBPL3 26031 broad.mit.edu 37 7 24856260 24856260 + Missense_Mutation SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:24856260G>A uc003sxf.2 - 18 2401 c.1996C>T c.(1996-1998)CCA>TCA p.P666S OSBPL3_uc003sxd.2_RNA|OSBPL3_uc003sxe.2_RNA|OSBPL3_uc003sxg.2_Missense_Mutation_p.P630S|OSBPL3_uc003sxh.2_Missense_Mutation_p.P635S|OSBPL3_uc003sxi.2_Missense_Mutation_p.P599S NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN oxysterol-binding protein-like protein 3 isoform 666 lipid transport lipid binding|protein binding skin(1) 1 GTGCCAATTGGAACAATTTCC 0.398 NaN 0 0 0 0.01441 0 74 116 AKAP9 10142 broad.mit.edu 37 7 91603051 91603051 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:91603051T>C uc003ulg.2 + 2 300 c.75T>C c.(73-75)GCT>GCC p.A25A AKAP9_uc003uld.3_Silent_p.A25A|AKAP9_uc003ule.2_Silent_p.A37A|AKAP9_uc003ulf.2_Silent_p.A25A NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 37 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAAGAAAAGCTCAGTCGGATG 0.368 NaN T BRAF papillary thyroid 0 0 0 0.008871 0 17 34 ZNF394 84124 broad.mit.edu 37 7 99096378 99096378 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:99096378C>T uc003uqs.2 - 2 705 c.544G>A c.(544-546)GAG>AAG p.E182K ZNF394_uc003uqt.2_Intron|ZNF394_uc003uqu.1_Missense_Mutation_p.E182K NM_032164 NP_115540 Q53GI3 ZN394_HUMAN zinc finger protein 394 182 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) TGCGCACTCTCTCTGCAGAAG 0.577 NaN 0 0 0 0.010504 0 20 44 MLL5 55904 broad.mit.edu 37 7 104753361 104753361 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:104753361C>G uc003vcm.2 + 27 5692 c.5158C>G c.(5158-5160)CCG>GCG p.P1720A MLL5_uc010ljc.2_Missense_Mutation_p.P1720A|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.2_Missense_Mutation_p.P454A NM_182931 NP_891847 Q8IZD2 MLL5_HUMAN myeloid/lymphoid or mixed-lineage leukemia 5 1720 Pro-rich. cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent MLL5-L complex|nuclear speck enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding ovary(2)|pancreas(1) 3 ACCACCCCCTCCGCCGCCACC 0.552 NaN 0 0 0 0.00874 0 41 46 SLC26A4 5172 broad.mit.edu 37 7 107335098 107335098 + Silent SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:107335098G>T uc003vep.2 + 12 1598 c.1374G>T c.(1372-1374)CTG>CTT p.L458L SLC26A4_uc011kmb.1_Silent_p.L45L|SLC26A4_uc011kmc.1_Silent_p.L19L|SLC26A4_uc011kmd.1_Silent_p.L27L NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 458 Helical; (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 TTGCCAACCTGAAAGGGATGT 0.418 NaN Pendred_syndrome 1 0 6.61955e-31 0.01441 7.42954e-31 40 75 FLNC 2318 broad.mit.edu 37 7 128470904 128470904 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:128470904C>T uc003vnz.3 + 1 422 c.213C>T c.(211-213)ATC>ATT p.I71I FLNC_uc003voa.3_Silent_p.I71I NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 71 CH 1.|Actin-binding. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 TCCGGCTCATCGCGCTGCTCG 0.637 NaN 0 0 0 0.003163 0 16 35 GIMAP8 155038 broad.mit.edu 37 7 150174632 150174632 + Missense_Mutation SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:150174632C>T uc003whj.2 + 5 2092 c.1762C>T c.(1762-1764)CGG>TGG p.R588W NM_175571 NP_783161 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 588 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) CAAAGCCCTTCGGCGCATTTT 0.463 NaN 0 0 0 0.01441 0 61 86 SLC4A2 6522 broad.mit.edu 37 7 150767332 150767332 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:150767332C>T uc003wit.3 + 10 1604 c.1348C>T c.(1348-1350)CTG>TTG p.L450L SLC4A2_uc011kve.1_Silent_p.L441L|SLC4A2_uc003wiu.3_Silent_p.L436L|SLC4A2_uc003wiv.3_5'Flank NM_003040 NP_003031 P04920 B3A2_HUMAN solute carrier family 4, anion exchanger, member 450 Cytoplasmic (Potential). LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556). bicarbonate transport integral to membrane|membrane fraction inorganic anion exchanger activity 0 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTGGGCTCCCTGCTGGGGCA 0.642 NaN 0 0 0 0.01441 0 46 72 GALNT11 63917 broad.mit.edu 37 7 151791435 151791435 + Silent SNP C C T rs138436495 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr7:151791435C>T uc010lqg.1 + 2 353 c.123C>T c.(121-123)CCC>CCT p.P41P GALNT11_uc011kvm.1_Intron|GALNT11_uc003wku.2_Silent_p.P41P|GALNT11_uc003wkv.1_Silent_p.P41P|GALNT11_uc011kvn.1_RNA NM_022087 NP_071370 Q8NCW6 GLT11_HUMAN N-acetylgalactosaminyltransferase 11 41 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding 0 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) AGAATGTGCCCGTCAAGGGGT 0.473 NaN 0 0 0 0.013537 0 12 284 BMP1 649 broad.mit.edu 37 8 22052270 22052270 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:22052270C>T uc003xbg.2 + 12 1721 c.1477C>T c.(1477-1479)CTG>TTG p.L493L BMP1_uc003xba.2_Silent_p.L493L|BMP1_uc003xbb.2_Silent_p.L493L|BMP1_uc003xbe.2_RNA|BMP1_uc003xbc.2_Silent_p.L242L|BMP1_uc003xbd.2_RNA|BMP1_uc003xbf.2_Silent_p.L242L|BMP1_uc011kzc.1_Silent_p.L242L|BMP1_uc003xbh.2_RNA|BMP1_uc003xbi.2_RNA NM_006129 NP_006120 P13497 BMP1_HUMAN bone morphogenetic protein 1 isoform 3 493 CUB 2. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding ovary(2)|breast(1) 3 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) CTACGACTATCTGGAGGTGCG 0.617 NaN 0 0 0 0.003755 0 31 52 DDHD2 23259 broad.mit.edu 37 8 38095721 38095721 + Missense_Mutation SNP C C A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:38095721C>A uc003xlb.2 + 5 993 c.616C>A c.(616-618)CAT>AAT p.H206N DDHD2_uc003xla.2_Missense_Mutation_p.H206N|DDHD2_uc003xlc.2_Missense_Mutation_p.H206N|DDHD2_uc011lbl.1_Intron NM_015214 NP_056029 O94830 DDHD2_HUMAN DDHD domain containing 2 isoform 1 206 lipid catabolic process centrosome hydrolase activity|metal ion binding large_intestine(1)|ovary(1) 2 Colorectal(12;0.000442) all_lung(54;0.0657)|Lung NSC(58;0.175) BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977) TGTTGACATTCATTGTGGTAA 0.418 NaN 1 0 3.03874e-20 0.003271 3.2992e-20 32 63 EIF3E 3646 broad.mit.edu 37 8 109240615 109240615 + Silent SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:109240615C>G uc003ymu.2 - 7 631 c.603G>C c.(601-603)GTG>GTC p.V201V EIF3E_uc003ymt.2_Silent_p.V152V|EIF3E_uc003ymv.2_Silent_p.V108V|EIF3E_uc010mci.1_Silent_p.V201V NM_001568 NP_001559 P60228 EIF3E_HUMAN eukaryotic translation initiation factor 3, 201 negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|eukaryotic translation initiation factor 3 complex|PML body protein N-terminus binding ovary(2)|kidney(1) 3 OV - Ovarian serous cystadenocarcinoma(57;6.84e-10) GTGGAGAACTCACAGACTAAA 0.328 NaN 0 0 0 0.004289 0 37 75 OC90 729330 broad.mit.edu 37 8 133047065 133047065 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:133047065C>T uc003ytg.2 - 9 696 c.696G>A c.(694-696)CAG>CAA p.Q232Q OC90_uc011lix.1_Silent_p.Q232Q NM_001080399 NP_001073868 Q02509 OC90_HUMAN otoconin 90 248 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity ovary(2)|skin(1) 3 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) CCACTCCTTCCTGATCGTGGC 0.567 NaN 0 0 0 0.01441 0 49 99 FRMPD1 22844 broad.mit.edu 37 9 37746352 37746352 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr9:37746352G>A uc004aag.1 + 16 4367 c.4323G>A c.(4321-4323)GGG>GGA p.G1441G FRMPD1_uc004aah.1_Silent_p.G1441G NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 1441 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CTTCCTGGGGGGTTGGAAACA 0.572 NaN 0 0 0 0.006214 0 10 19 CDC14B 8555 broad.mit.edu 37 9 99381613 99381613 + Silent SNP G G C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr9:99381613G>C uc004awj.2 - 1 500 c.48C>G c.(46-48)CCC>CCG p.P16P CDC14B_uc004awk.2_Silent_p.P16P|CDC14B_uc004awl.2_RNA NM_033331 NP_201588 O60729 CC14B_HUMAN CDC14 homolog B isoform 2 16 Nucleolar localization signal (Probable). activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint nucleolus|nucleoplasm protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(1) 1 Acute lymphoblastic leukemia(62;0.0559) GCCGCGAGCAGGGGGGCGCGG 0.677 NaN 0 0 0 0.013537 0 12 5 KIF12 113220 broad.mit.edu 37 9 116854869 116854869 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr9:116854869G>A uc004bif.2 - 14 1474 c.1236C>T c.(1234-1236)CCC>CCT p.P412P KIF12_uc004big.2_RNA NM_138424 NP_612433 Q96FN5 KIF12_HUMAN kinesin family member 12 545 Pro-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GGGGTGCCCAGGGTGGGGGCC 0.652 NaN 0 0 0 0.013537 0 11 5 RPGR 6103 broad.mit.edu 37 X 38135986 38135986 + Missense_Mutation SNP C C G TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:38135986C>G uc004deb.2 - 16 2113 c.1945G>C c.(1945-1947)GAT>CAT p.D649H RPGR_uc004dea.2_RNA|RPGR_uc004dec.2_RNA NM_000328 NP_000319 Q92834 RPGR_HUMAN retinitis pigmentosa GTPase regulator isoform A Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment intracellular protein transport|response to stimulus|visual perception Golgi apparatus|photoreceptor outer segment guanyl-nucleotide exchange factor activity|protein binding ovary(1) 1 TCATCCACATCTTCTAGTTTT 0.353 NaN 0 0 0 0.005524 0 40 21 KDM6A 7403 broad.mit.edu 37 X 44966676 44966676 + Silent SNP G G A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:44966676G>A uc004dge.3 + 27 4275 c.3900G>A c.(3898-3900)CTG>CTA p.L1300L KDM6A_uc011mkz.1_Silent_p.L1352L|KDM6A_uc011mla.1_Silent_p.L1255L|KDM6A_uc011mlb.1_Silent_p.L1307L|KDM6A_uc011mlc.1_Silent_p.L1004L|KDM6A_uc011mld.1_Silent_p.L939L NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1300 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 TAAGAACTCTGAAGCAATGTC 0.373 NaN D|N|F|S renal|oesophageal SCC|MM 0 0 0 0.01441 0 66 18 KDM6A 7403 broad.mit.edu 37 X 44969330 44969330 + Missense_Mutation SNP G G T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:44969330G>T uc004dge.3 + 28 4387 c.4012G>T c.(4012-4014)GTT>TTT p.V1338F KDM6A_uc011mkz.1_Missense_Mutation_p.V1390F|KDM6A_uc011mla.1_Missense_Mutation_p.V1293F|KDM6A_uc011mlb.1_Missense_Mutation_p.V1345F|KDM6A_uc011mlc.1_Missense_Mutation_p.V1042F|KDM6A_uc011mld.1_Missense_Mutation_p.V977F NM_021140 NP_066963 O15550 KDM6A_HUMAN ubiquitously transcribed tetratricopeptide 1338 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2) 84 ACAGGTGGAGGTTTTTGATCT 0.338 NaN D|N|F|S renal|oesophageal SCC|MM 1 0 1.08052e-11 0.004289 1.13604e-11 36 23 CCDC120 90060 broad.mit.edu 37 X 48925201 48925201 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:48925201C>T uc010nik.2 + 10 1953 c.1446C>T c.(1444-1446)CTC>CTT p.L482L CCDC120_uc011mmq.1_Silent_p.L470L|CCDC120_uc004dmf.2_Silent_p.L482L|CCDC120_uc010nil.2_Silent_p.L482L|CCDC120_uc011mmr.1_Silent_p.L482L|CCDC120_uc011mms.1_Silent_p.L470L NM_033626 NP_296375 Q96HB5 CC120_HUMAN coiled-coil domain containing 120 isoform 3 482 Pro-rich. protein binding pancreas(1) 1 ATGGGCTCCTCACCATGCTCC 0.711 NaN 0 0 0 0.00278 0 21 9 MED12 9968 broad.mit.edu 37 X 70351453 70351453 + Silent SNP C C T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:70351453C>T uc004dyy.2 + 29 4300 c.4101C>T c.(4099-4101)ATC>ATT p.I1367I MED12_uc011mpq.1_Silent_p.I1367I|MED12_uc004dyz.2_Silent_p.I1367I|MED12_uc004dza.2_Silent_p.I1214I|MED12_uc010nla.2_5'UTR NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 1367 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) AGCTCATGATCAAGCAGACCC 0.562 NaN 0 0 0 0.010818 0 27 11 RLIM 51132 broad.mit.edu 37 X 73812256 73812256 + Silent SNP T T C TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chrX:73812256T>C uc004ebu.2 - 5 1184 c.894A>G c.(892-894)GCA>GCG p.A298A RLIM_uc004ebw.2_Silent_p.A298A NM_183353 NP_899196 Q9NVW2 RNF12_HUMAN ring finger protein, LIM domain interacting 298 random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process cytoplasm|transcriptional repressor complex transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CTGAAGAACCTGCTCCTTGAG 0.488 NaN 0 0 0 0.003755 0 34 15 ATP1A1 476 broad.mit.edu 37 1 116932977 116932977 + Frame_Shift_Del DEL C C - TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr1:116932977delC uc001ege.2 + 9 1505 c.1166delC c.(1165-1167)GCCfs p.A389fs ATP1A1_uc010owv.1_Frame_Shift_Del_p.A358fs|ATP1A1_uc010oww.1_Frame_Shift_Del_p.A389fs|ATP1A1_uc010owx.1_Frame_Shift_Del_p.A358fs NM_000701 NP_000692 P05023 AT1A1_HUMAN Na+/K+ -ATPase alpha 1 subunit isoform a 389 Cytoplasmic (Potential). ATP biosynthetic process melanosome|sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity ovary(1) 1 Lung SC(450;0.225) all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24) Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021) ATGACAGTGGCCCACATGTGG 0.413 NaN NaN NaN NaN NaN NaN 23 46 --- --- PDCD11 22984 broad.mit.edu 37 10 105169473 105169474 + Frame_Shift_Ins INS - - A TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr10:105169473_105169474insA uc001kwy.1 + 8 975_976 c.888_889insA c.(886-891)CTTACGfs p.L296fs NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 296_297 S1 motif 3. mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CATTTGGCCTTACGCTAAACTT 0.391 NaN NaN NaN NaN NaN NaN 51 95 --- --- WIF1 11197 broad.mit.edu 37 12 65445160 65445169 + Frame_Shift_Del DEL CGCCGCTCCT CGCCGCTCCT - rs145628728 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr12:65445160_65445169delCGCCGCTCCT uc001ssk.2 - 10 1245_1254 c.1100_1109delAGGAGCGGCG c.(1099-1110)GAGGAGCGGCGGfs p.E367fs NM_007191 NP_009122 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 precursor 367_370 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity ovary(2)|lung(1)|skin(1) 4 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) AGGTGGATCCCGCCGCTCCTCGGCCTTTTT 0.495 NaN T HMGA2 pleomorphic salivary gland adenoma NaN NaN NaN NaN NaN 24 132 --- --- ATR 545 broad.mit.edu 37 3 142274739 142274740 + Frame_Shift_Ins INS - - T TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr3:142274739_142274740insT uc003eux.3 - 10 2442_2443 c.2320_2321insA c.(2320-2322)ATAfs p.I774fs NM_001184 NP_001175 Q13535 ATR_HUMAN ataxia telangiectasia and Rad3 related protein 774 cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity lung(5)|skin(5)|breast(4)|ovary(3)|stomach(1)|central_nervous_system(1)|liver(1) 20 TGGACTAGGTATTTTTTTTTTC 0.332 NaN Other_conserved_DNA_damage_response_genes NaN NaN NaN NaN NaN 8 189 --- --- CRIPAK 285464 broad.mit.edu 37 4 1388441 1388442 + Frame_Shift_Ins INS - - CG rs144787346 byFrequency TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr4:1388441_1388442insCG uc003gdf.2 + 1 3102_3103 c.142_143insCG c.(142-144)ATGfs p.M48fs NM_175918 NP_787114 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 48 1. ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding 0 OV - Ovarian serous cystadenocarcinoma(23;0.0106) CTGCTCACACATGCCCATGTGG 0.644 NaN NaN NaN NaN NaN NaN 7 689 --- --- CLDN23 137075 broad.mit.edu 37 8 8560467 8560467 + Frame_Shift_Del DEL G G - TCGA-GU-A42R-01A-11D-A23M-08 TCGA-GU-A42R-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6f061801-6d8a-4969-8d40-9488aa47ad45 c62e13c2-34be-41a1-a112-8efb3eddd782 g.chr8:8560467delG uc003wsi.2 + 1 802 c.559delG c.(559-561)GAGfs p.E187fs NM_194284 NP_919260 Q96B33 CLD23_HUMAN claudin 23 187 Cytoplasmic (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity 0 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238) CTGGTGCGACGAGCGTTGTCG 0.731 NaN NaN NaN NaN NaN NaN 9 6 --- ---