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 UBR4 23352 broad.mit.edu 37 1 19487443 19487443 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:19487443C>T uc001bbi.2 - 38 5378 c.5374G>A c.(5374-5376)GTA>ATA p.V1792I UBR4_uc001bbm.1_Missense_Mutation_p.V1003I NM_020765 NP_065816 Q5T4S7 UBR4_HUMAN retinoblastoma-associated factor 600 1792 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2) 25 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) CAGCCCTCTACTGTGCGGCAG 0.542 NaN 0 0 0 0.001984 0 7 46 MRTO4 51154 broad.mit.edu 37 1 19584362 19584362 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:19584362G>C uc001bbs.2 + 6 632 c.377G>C c.(376-378)CGA>CCA p.R126P NM_016183 NP_057267 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog 126 ribosome biogenesis nuclear membrane|nucleolus 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GACTACGCCCGAGCTGGTAAC 0.592 NaN 0 0 0 0.014323 0 23 123 TAF12 6883 broad.mit.edu 37 1 28931969 28931969 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:28931969C>T uc001bqw.2 - 4 458 c.365G>A c.(364-366)CGC>CAC p.R122H TAF12_uc001bqx.2_Missense_Mutation_p.R122H|TAF12_uc001bqy.2_Missense_Mutation_p.R122H|TAF12_uc009vti.2_Missense_Mutation_p.R122H NM_005644 NP_005635 Q16514 TAF12_HUMAN TAF12 RNA polymerase II, TATA box binding 122 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction PCAF complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex DNA binding|protein binding|transcription coactivator activity ovary(1) 1 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Renal(390;0.00121)|Breast(348;0.00502)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123) Colorectal(126;3.21e-08)|COAD - Colon adenocarcinoma(152;1.74e-06)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(1967;0.0109)|BRCA - Breast invasive adenocarcinoma(304;0.0228)|READ - Rectum adenocarcinoma(331;0.0649) GTTCCACTGGCGCTCTGCAAG 0.512 NaN 0 0 0 0.020292 0 14 80 DMRTA2 63950 broad.mit.edu 37 1 50884577 50884577 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:50884577G>A uc010ona.1 - 2 1485 c.1389C>T c.(1387-1389)CTC>CTT p.L463L DMRTA2_uc010onb.1_Silent_p.L463L NM_032110 NP_115486 Q96SC8 DMTA2_HUMAN DMRT-like family A2 463 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity 0 GCAGGGGGCTGAGGCCGAGCG 0.756 NaN 0 0 0 0.021553 0 6 6 LPPR4 9890 broad.mit.edu 37 1 99771657 99771657 + Silent SNP C C T rs35971915 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:99771657C>T uc001dse.2 + 7 1489 c.1383C>T c.(1381-1383)TCC>TCT p.S461S LPPR4_uc010oue.1_Silent_p.S403S NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 461 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) GAAAGTTGTCCTTGCAAGTTA 0.502 NaN 0 0 0 0.023175 0 39 94 OLFM3 118427 broad.mit.edu 37 1 102312479 102312479 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:102312479C>G uc001duf.2 - 1 122 c.51G>C c.(49-51)ATG>ATC p.M17I OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 17 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) AGTTTGAGATCATTGCCATGG 0.507 NaN 0 0 0 0.014323 0 24 91 FAM40A 85369 broad.mit.edu 37 1 110581817 110581817 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:110581817C>T uc001dza.1 + 4 368 c.349C>T c.(349-351)CTG>TTG p.L117L FAM40A_uc001dyz.1_Silent_p.L22L|FAM40A_uc009wfp.1_5'UTR NM_033088 NP_149079 Q5VSL9 FA40A_HUMAN hypothetical protein LOC85369 117 nucleus protein binding ovary(3)|large_intestine(1) 4 all_cancers(81;8.51e-05)|all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0154)|all cancers(265;0.0732)|Epithelial(280;0.0781)|Colorectal(144;0.115)|LUSC - Lung squamous cell carcinoma(189;0.137) GTGGACTGAGCTGGATACCAA 0.517 NaN 0 0 0 0.013537 0 13 46 TXNIP 10628 broad.mit.edu 37 1 145438895 145438895 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145438895G>C uc001enn.3 + 1 434 c.93G>C c.(91-93)GTG>GTC p.V31V NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_5'Flank NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 31 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CTGGCCGGGTGATAGTGGAGG 0.517 NaN 0 0 0 0.001984 0 7 91 TXNIP 10628 broad.mit.edu 37 1 145439609 145439609 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145439609G>C uc001enn.3 + 2 608 c.267G>C c.(265-267)GTG>GTC p.V89V NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V34V NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 89 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ATGAGATGGTGATCATGAGAC 0.403 NaN 0 0 0 0.007413 0 17 131 TXNIP 10628 broad.mit.edu 37 1 145440274 145440274 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145440274G>A uc001enn.3 + 5 921 c.580G>A c.(580-582)GAG>AAG p.E194K NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Missense_Mutation_p.E139K NM_006472 NP_006463 Q9H3M7 TXNIP_HUMAN thioredoxin interacting protein 194 cell cycle|keratinocyte differentiation|transcription, DNA-dependent ubiquitin protein ligase binding ovary(2) 2 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) GCTAGGTGATGAGATTTCCAT 0.478 NaN 0 0 0 0.012319 0 21 149 PIAS3 10401 broad.mit.edu 37 1 145584822 145584822 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:145584822C>A uc001eoc.1 + 13 1697 c.1606C>A c.(1606-1608)CAG>AAG p.Q536K NBPF10_uc001emp.3_Intron|PIAS3_uc001eod.1_Missense_Mutation_p.Q205K NM_006099 NP_006090 Q9Y6X2 PIAS3_HUMAN protein inhibitor of activated STAT, 3 536 positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding ovary(1) 1 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTCATTTCTTCAGACAGAGAG 0.423 NaN 1 0 7.11191e-15 0.013726 7.61477e-15 30 76 SETDB1 9869 broad.mit.edu 37 1 150923371 150923371 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:150923371A>G uc001evu.2 + 13 2208 c.2018A>G c.(2017-2019)TAT>TGT p.Y673C SETDB1_uc009wmf.2_Missense_Mutation_p.Y674C|SETDB1_uc001evv.2_Missense_Mutation_p.Y673C|SETDB1_uc009wmg.1_Missense_Mutation_p.Y673C NM_001145415 NP_001138887 Q15047 SETB1_HUMAN SET domain, bifurcated 1 isoform 1 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|Golgi apparatus|nucleus|plasma membrane DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211) TTTCAGCCCTATAAGCCTTTT 0.463 NaN 0 0 0 0.012213 0 35 83 SEMA6C 10500 broad.mit.edu 37 1 151108092 151108092 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:151108092C>G uc001ewu.2 - 14 1708 c.1408G>C c.(1408-1410)GAG>CAG p.E470Q SEMA6C_uc001ewv.2_Missense_Mutation_p.E470Q|SEMA6C_uc001eww.2_Missense_Mutation_p.E430Q|SEMA6C_uc010pcq.1_Missense_Mutation_p.E470Q NM_030913 NP_112175 Q9H3T2 SEM6C_HUMAN semaphorin Y precursor 470 Extracellular (Potential).|Sema. integral to membrane receptor activity ovary(1)|skin(1) 2 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GCATCAATCTCTTCCAGGAGG 0.602 NaN 0 0 0 0.01441 0 67 122 NUP210L 91181 broad.mit.edu 37 1 154112367 154112367 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:154112367C>G uc001fdw.2 - 5 700 c.628G>C c.(628-630)GAG>CAG p.E210Q NUP210L_uc010peh.1_Missense_Mutation_p.E210Q NM_207308 NP_997191 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like isoform 1 210 integral to membrane skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1) 11 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TGTTTCTCCTCTTTTTCCATC 0.338 NaN 0 0 0 0.01441 0 105 243 FMOD 2331 broad.mit.edu 37 1 203316731 203316731 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:203316731C>T uc001gzr.2 - 2 804 c.668G>A c.(667-669)CGG>CAG p.R223Q FMOD_uc010pqi.1_RNA NM_002023 NP_002014 Q06828 FMOD_HUMAN fibromodulin precursor 223 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix ovary(2)|breast(1) 3 BRCA - Breast invasive adenocarcinoma(75;0.171) GATCAGTGACCGGAGGCCCCT 0.567 NaN 0 0 0 0.01441 0 72 189 PTPN14 5784 broad.mit.edu 37 1 214567095 214567095 + Missense_Mutation SNP A A C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:214567095A>C uc001hkk.1 - 10 1143 c.872T>G c.(871-873)ATT>AGT p.I291S PTPN14_uc010pty.1_Missense_Mutation_p.I192S NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 291 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) CAACCGAGAAATATACTTGGC 0.343 NaN 0 0 0 0.021523 0 20 67 JMJD4 65094 broad.mit.edu 37 1 227921241 227921241 + Silent SNP G G A rs117793265 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:227921241G>A uc001hrb.2 - 4 834 c.834C>T c.(832-834)TCC>TCT p.S278S SNAP47_uc001hqz.2_Intron|SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.2_5'Flank|SNAP47_uc001hre.2_5'Flank|SNAP47_uc001hrf.2_5'Flank|LOC100130093_uc001hqx.3_RNA|LOC100130093_uc001hqy.3_RNA|JMJD4_uc001hrc.2_Silent_p.S278S NM_023007 NP_075383 Q9H9V9 JMJD4_HUMAN jumonji domain containing 4 isoform 1 278 JmjC. 0 Prostate(94;0.0885) AGAGTGCTGGGGAGGTCACGT 0.642 NaN 0 0 0 0.012319 0 21 61 OBSCN 84033 broad.mit.edu 37 1 228473945 228473945 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr1:228473945C>T uc009xez.1 + 34 9215 c.9171C>T c.(9169-9171)CCC>CCT p.P3057P OBSCN_uc001hsn.2_Silent_p.P3057P|OBSCN_uc001hsq.1_Silent_p.P313P NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 3057 Ig-like 30. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) ATGCCCAGCCCGGGGGCTACC 0.667 NaN 0 0 0 0.021553 0 6 26 GPR158 57512 broad.mit.edu 37 10 25885648 25885648 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:25885648C>G uc001isj.2 + 10 2135 c.2075C>G c.(2074-2076)TCT>TGT p.S692C GPR158_uc001isk.2_Missense_Mutation_p.S67C NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 692 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 ATGGGCCGATCTGGATCCTAC 0.443 NaN 0 0 0 0.020292 0 14 42 MKX 283078 broad.mit.edu 37 10 28032225 28032225 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:28032225G>A uc001ity.3 - 2 345 c.120C>T c.(118-120)CGC>CGT p.R40R MKX_uc001itx.3_Silent_p.R40R NM_173576 NP_775847 Q8IYA7 MKX_HUMAN mohawk homeobox 40 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 CCACCTCGGGGCGGGCGTGAG 0.726 NaN 0 0 0 0.008291 0 10 33 HKDC1 80201 broad.mit.edu 37 10 71002944 71002944 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:71002944G>A uc001jpf.3 + 7 831 c.698G>A c.(697-699)GGC>GAC p.G233D HKDC1_uc010qje.1_Missense_Mutation_p.G96D NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 233 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity ovary(4)|skin(1) 5 TCAGGAACTGGCACCAATGCG 0.562 NaN 0 0 0 0.014323 0 21 114 PRF1 5551 broad.mit.edu 37 10 72358594 72358594 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:72358594T>C uc009xqg.2 - 3 1044 c.883A>G c.(883-885)ACC>GCC p.T295A PRF1_uc001jrf.3_Missense_Mutation_p.T295A NM_001083116 NP_001076585 P14222 PERF_HUMAN perforin 1 precursor 295 MACPF. apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity large_intestine(1)|ovary(1)|central_nervous_system(1) 3 TCCCGGTAGGTTTGGTGGAAG 0.607 NaN M various leukaemia|lymphoma Type 2 familial hemophagocytic lymphohistiocytosis Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.021523 0 27 73 TACC2 10579 broad.mit.edu 37 10 123846852 123846852 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr10:123846852G>T uc001lfv.2 + 4 5197 c.4837G>T c.(4837-4839)GAT>TAT p.D1613Y TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Missense_Mutation_p.D1613Y|TACC2_uc010qtv.1_Missense_Mutation_p.D1613Y NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 1613 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) ACATGGAGAAGATGGTCCCGG 0.582 NaN 1 0 4.35082e-09 0.010504 4.52144e-09 22 69 MRPL23 6150 broad.mit.edu 37 11 1977518 1977518 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:1977518G>A uc001lux.2 + 5 421 c.330G>A c.(328-330)CTG>CTA p.L110L NM_021134 NP_066957 Q16540 RM23_HUMAN mitochondrial ribosomal protein L23 110 translation mitochondrial large ribosomal subunit nucleotide binding|RNA binding|structural constituent of ribosome large_intestine(2)|ovary(1) 3 all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842) TCCCAGATCTGTTTCCCGAGA 0.622 NaN 0 0 0 0.01892 0 24 167 TRIM5 85363 broad.mit.edu 37 11 5686559 5686559 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:5686559C>T uc001mbm.1 - 8 1219 c.962G>A c.(961-963)AGC>AAC p.S321N TRIM78P_uc009yer.2_RNA|TRIM5_uc001mbl.1_RNA|TRIM5_uc001mbn.2_Intron|TRIM5_uc001mbo.2_Intron|TRIM5_uc001mbp.2_3'UTR NM_033034 NP_149023 Q9C035 TRIM5_HUMAN tripartite motif protein TRIM5 isoform alpha 321 B30.2/SPRY. interspecies interaction between organisms|protein trimerization|response to virus cytoplasm|cytoplasmic mRNA processing body ligase activity|protein binding|protein homodimerization activity|zinc ion binding ovary(1) 1 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221) Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139) TTTCGGAGAGCTCACTTGTCT 0.408 NaN 0 0 0 0.020292 0 13 69 STK33 65975 broad.mit.edu 37 11 8483449 8483449 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:8483449C>A uc001mgi.1 - 4 1380 c.461G>T c.(460-462)AGC>ATC p.S154I STK33_uc001mgj.1_Missense_Mutation_p.S154I|STK33_uc001mgk.1_Missense_Mutation_p.S154I|STK33_uc010rbn.1_Missense_Mutation_p.S113I|STK33_uc001mgl.3_5'UTR|STK33_uc009yfp.2_Intron NM_030906 NP_112168 Q9BYT3 STK33_HUMAN serine/threonine kinase 33 154 Protein kinase. Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity ovary(2)|lung(2)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) CACAGCAGAGCTTCCAGCCTT 0.338 NaN 1 0 4.84862e-15 0.010729 5.2178e-15 11 39 AMPD3 272 broad.mit.edu 37 11 10514903 10514903 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:10514903C>T uc001mio.1 + 7 1282 c.947C>T c.(946-948)ACA>ATA p.T316I AMPD3_uc010rbz.1_Missense_Mutation_p.T157I|AMPD3_uc001min.1_Missense_Mutation_p.T325I|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.T323I|AMPD3_uc009yfy.2_Missense_Mutation_p.T316I NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 316 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) CAGGTGGACACACACATCCAT 0.577 NaN 0 0 0 0.009718 0 44 160 PAMR1 25891 broad.mit.edu 37 11 35454248 35454248 + Missense_Mutation SNP C C T rs148541461 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:35454248C>T uc001mwg.2 - 11 1862 c.1819G>A c.(1819-1821)GTG>ATG p.V607M PAMR1_uc001mwf.2_Missense_Mutation_p.V624M|PAMR1_uc010rew.1_Missense_Mutation_p.V496M|PAMR1_uc010rex.1_Missense_Mutation_p.V567M NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 607 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GGGCTCCTCACGTCTGCCAGG 0.617 NaN 0 0 0 0.008291 0 10 56 SPRYD5 84767 broad.mit.edu 37 11 55653304 55653304 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:55653304G>T uc010rip.1 + 2 492 c.400G>T c.(400-402)GAG>TAG p.E134* SPRYD5_uc010riq.1_5'Flank NM_032681 NP_116070 Q9BSJ1 SPRY5_HUMAN SPRY domain containing 5 134 intracellular zinc ion binding 0 all_epithelial(135;0.226) GTGGGCTGCTGAGGAACGCCG 0.478 NaN 1 0 2.0095e-06 0.001984 2.06803e-06 7 36 C11orf80 79703 broad.mit.edu 37 11 66605889 66605889 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:66605889G>A uc001ojf.2 + 15 1727 c.1720G>A c.(1720-1722)GAT>AAT p.D574N C11orf80_uc001ojg.2_Missense_Mutation_p.D341N|C11orf80_uc001ojh.2_Missense_Mutation_p.D342N|C11orf80_uc001oji.2_Missense_Mutation_p.D342N|C11orf80_uc010rpl.1_Missense_Mutation_p.D208N|C11orf80_uc001ojj.2_Missense_Mutation_p.D172N NM_024650 NP_078926 Q8N6T0 CK080_HUMAN hypothetical protein LOC79703 419 0 GGACGCACCTGATAACAGCAG 0.443 NaN 0 0 0 0.008291 0 11 58 ACY3 91703 broad.mit.edu 37 11 67414351 67414351 + Missense_Mutation SNP G G C rs145934175 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:67414351G>C uc001omq.2 - 3 335 c.164C>G c.(163-165)CCG>CGG p.P55R NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 55 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) TGTGGCTGCCGGGTTGGCCAG 0.662 NaN 0 0 0 0.004482 0 8 24 ODZ4 26011 broad.mit.edu 37 11 78399233 78399233 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:78399233G>T uc001ozl.3 - 29 5589 c.5126C>A c.(5125-5127)CCT>CAT p.P1709H ODZ4_uc009yvb.1_Missense_Mutation_p.P293H NM_001098816 NP_001092286 Q6N022 TEN4_HUMAN odz, odd Oz/ten-m homolog 4 1709 YD 4.|Extracellular (Potential). signal transduction integral to membrane ovary(2)|pancreas(2) 4 CTGGCCAGTAGGGAAGGTCAC 0.507 NaN 1 0 2.81731e-10 0.010818 2.9715e-10 31 182 SIK2 23235 broad.mit.edu 37 11 111558772 111558772 + Nonsense_Mutation SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:111558772A>T uc001plt.2 + 4 482 c.364A>T c.(364-366)AAA>TAA p.K122* NM_015191 NP_056006 Q9H0K1 SIK2_HUMAN SNF1-like kinase 2 122 Protein kinase. intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(2)|skin(1) 3 AGCCAGGCGAAAATTCTGGCA 0.403 NaN 0 0 0 0.020292 0 13 56 MLL 4297 broad.mit.edu 37 11 118382708 118382708 + Nonsense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:118382708C>G uc001pta.2 + 31 11128 c.11105C>G c.(11104-11106)TCA>TGA p.S3702* MLL_uc001ptb.2_Nonsense_Mutation_p.S3705* NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3702 FYR C-terminal. apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) GAAGCTCGATCAAATGCCCGC 0.428 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.001984 0 7 38 OR8D1 283159 broad.mit.edu 37 11 124179947 124179947 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:124179947C>T uc010sag.1 - 1 716 c.716G>A c.(715-717)GGA>GAA p.G239E NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, 239 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) GCTGCATGTTCCAAAAGCTTT 0.517 NaN 0 0 0 0.028581 0 17 57 OR8B2 26595 broad.mit.edu 37 11 124252654 124252654 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:124252654C>T uc010sai.1 - 1 586 c.586G>A c.(586-588)GAG>AAG p.E196K NM_001005468 NP_001005468 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, 196 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277) ACAACCACCTCGTTGACATAG 0.433 NaN 0 0 0 0.007413 0 18 83 ARHGAP32 9743 broad.mit.edu 37 11 128840032 128840032 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr11:128840032C>T uc009zcp.2 - 22 5034 c.5034G>A c.(5032-5034)TTG>TTA p.L1678L ARHGAP32_uc009zcq.1_3'UTR|ARHGAP32_uc009zco.2_Silent_p.L637L|ARHGAP32_uc001qez.2_Silent_p.L1329L NM_001142685 NP_001136157 A7KAX9 RHG32_HUMAN Rho GTPase-activating protein isoform 1 1678 Interaction with GAB2. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding lung(3)|ovary(2) 5 GAAGGGGTCTCAACTGGACTG 0.512 NaN 0 0 0 0.014323 0 23 103 CD69 969 broad.mit.edu 37 12 9913402 9913402 + Silent SNP A A G rs149884332 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:9913402A>G uc001qwk.2 - 1 96 c.15T>C c.(13-15)AAT>AAC p.N5N CD69_uc010sgu.1_Silent_p.N5N|CD69_uc010sgv.1_Silent_p.N5N NM_001781 NP_001772 Q07108 CD69_HUMAN CD69 molecule 5 Cytoplasmic (Potential). integral to plasma membrane sugar binding|transmembrane receptor activity 0 CTACGAAACAATTTTCAGAGC 0.408 NaN 0 0 0 0.024245 0 14 88 CPNE8 144402 broad.mit.edu 37 12 39047685 39047685 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:39047685C>T uc001rls.1 - 20 1778 c.1694G>A c.(1693-1695)TGA>TAA p.*565* CPNE8_uc001rlr.1_Silent_p.*224* NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 565 pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) AGAGCACAGTCATATTTGAGT 0.458 NaN 0 0 0 0.001984 0 7 30 ARID2 196528 broad.mit.edu 37 12 46125015 46125015 + Nonsense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 C T C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:46125015C>T uc001ros.1 + 3 202 c.202C>T c.(202-204)CAG>TAG p.Q68* ARID2_uc001ror.2_Nonsense_Mutation_p.Q68* NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 68 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TGAGAAGAATCAGTGGGGAGA 0.378 NaN 0 0 0 0.028581 0 16 64 H1FNT 341567 broad.mit.edu 37 12 48723522 48723522 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:48723522G>A uc001rrm.2 + 1 760 c.448G>A c.(448-450)GCG>ACG p.A150T NM_181788 NP_861453 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 150 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding pancreas(1) 1 GACCCCAGCCGCGCCCCGGAG 0.706 NaN 0 0 0 0.001984 0 7 24 MLL2 8085 broad.mit.edu 37 12 49444142 49444142 + Nonsense_Mutation SNP T T A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:49444142T>A uc001rta.3 - 11 3229 c.3229A>T c.(3229-3231)AAA>TAA p.K1077* NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 1077 Pro-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCTGAAACTTTCTCAGTCTCC 0.617 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.014758 0 5 24 SILV 6490 broad.mit.edu 37 12 56349288 56349288 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:56349288G>C uc001sip.2 - 9 1753 c.1722C>G c.(1720-1722)ACC>ACG p.T574T SILV_uc001siq.2_Silent_p.T574T|SILV_uc010spx.1_Silent_p.T488T|SILV_uc001sir.2_Silent_p.T574T NM_006928 NP_008859 P40967 PMEL_HUMAN silver homolog 574 Lumenal (Potential). melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding 0 CCAGGCTGTTGGTATCAGCCA 0.582 NaN 0 0 0 0.024245 0 16 73 ANKRD52 283373 broad.mit.edu 37 12 56647181 56647181 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:56647181C>T uc001skm.3 - 10 1081 c.991G>A c.(991-993)GAG>AAG p.E331K NM_173595 NP_775866 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 331 ANK 10. protein binding ovary(2) 2 CAATCAATCTCGCTGCCTGTG 0.532 NaN 0 0 0 0.006122 0 17 72 BEST3 144453 broad.mit.edu 37 12 70070717 70070717 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:70070717G>A uc001svg.2 - 7 1073 c.846C>T c.(844-846)TTC>TTT p.F282F BEST3_uc001svd.1_Silent_p.F282F|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Intron|BEST3_uc010stm.1_Silent_p.F176F|BEST3_uc001svh.2_Intron NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 282 Helical; (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CTGCATAGAAGAAGAATTGTA 0.473 NaN 0 0 0 0.00632 0 28 147 NDUFA12 55967 broad.mit.edu 37 12 95397387 95397387 + Missense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:95397387G>T uc001tdl.2 - 1 125 c.70C>A c.(70-72)CTA>ATA p.L24I NM_018838 NP_061326 Q9UI09 NDUAC_HUMAN 13kDa differentiation-associated protein 24 respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport mitochondrial respiratory chain complex I electron carrier activity|NADH dehydrogenase (ubiquinone) activity 0 NADH(DB00157) AAAACCCGTAGATAGCCTCGG 0.637 NaN 1 0 5.91797e-21 0.012213 6.43389e-21 30 168 C12orf63 374467 broad.mit.edu 37 12 97159026 97159026 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:97159026A>G uc001tet.1 + 27 3664 c.3586A>G c.(3586-3588)AAA>GAA p.K1196E NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 1196 skin(6)|ovary(1) 7 TATTATGCAAAAAAACTGATA 0.343 NaN 0 0 0 0.014758 0 5 27 ANO4 121601 broad.mit.edu 37 12 101333128 101333128 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:101333128G>A uc010svm.1 + 4 768 c.196G>A c.(196-198)GAA>AAA p.E66K ANO4_uc010svl.1_RNA|ANO4_uc001thw.2_Missense_Mutation_p.E31K|ANO4_uc001thx.2_Missense_Mutation_p.E66K NM_178826 NP_849148 Q32M45 ANO4_HUMAN anoctamin 4 66 Extracellular (Potential). chloride channel complex chloride channel activity ovary(4)|skin(2) 6 TGATGAATTAGAAGCTGTCAG 0.413 NaN HNSCC(74;0.22) 0 0 0 0.024334 0 26 74 DTX1 1840 broad.mit.edu 37 12 113532886 113532886 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:113532886G>A uc001tuk.1 + 7 1762 c.1426G>A c.(1426-1428)GGG>AGG p.G476R NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 476 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GGCCATCTACGGGGAGAAGAC 0.652 NaN 0 0 0 0.016723 0 14 82 LRRC43 254050 broad.mit.edu 37 12 122670812 122670812 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr12:122670812G>A uc009zxm.2 + 3 512 c.487G>A c.(487-489)GAG>AAG p.E163K LRRC43_uc001ubw.3_5'UTR|LRRC43_uc009zxl.1_RNA NM_001098519 NP_001091989 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 isoform 1 163 LRR 1. 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TCGAATCAAGGAGGTGGATGC 0.562 NaN 0 0 0 0.004672 0 3 11 POU4F1 5457 broad.mit.edu 37 13 79176005 79176005 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr13:79176005C>G uc001vkv.2 - 2 1039 c.805G>C c.(805-807)GAG>CAG p.E269Q uc001vku.1_Intron NM_006237 NP_006228 Q01851 PO4F1_HUMAN POU domain, class 4, transcription factor 1 269 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GCGAACGCCTCGAGCTCGCGC 0.587 NaN 0 0 0 0.014758 0 5 23 RAB20 55647 broad.mit.edu 37 13 111176499 111176499 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr13:111176499G>A uc001vqy.2 - 2 423 c.218C>T c.(217-219)GCG>GTG p.A73V NM_017817 NP_060287 Q9NX57 RAB20_HUMAN RAB20, member RAS oncogene family 73 protein transport|small GTPase mediated signal transduction Golgi apparatus GTP binding 0 all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197) GATGGCGGCCGCCCCCCGGCA 0.607 NaN 0 0 0 0.008361 0 29 81 NDRG2 57447 broad.mit.edu 37 14 21486650 21486650 + Nonsense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:21486650G>C uc001vyy.2 - 14 977 c.827C>G c.(826-828)TCA>TGA p.S276* NDRG2_uc010tll.1_Nonsense_Mutation_p.S272*|NDRG2_uc001vyt.2_Nonsense_Mutation_p.S189*|NDRG2_uc001vyu.2_Nonsense_Mutation_p.S233*|NDRG2_uc001vyv.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyw.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzb.2_Nonsense_Mutation_p.S216*|NDRG2_uc001vyx.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vza.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vyz.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzc.2_Intron|NDRG2_uc001vze.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzd.2_Nonsense_Mutation_p.S276*|NDRG2_uc001vzg.2_Nonsense_Mutation_p.S262*|NDRG2_uc001vzf.2_Nonsense_Mutation_p.S262*|NDRG2_uc010aig.2_Nonsense_Mutation_p.S265* NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN N-myc downstream-regulated gene 2 isoform a 276 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm ovary(1)|breast(1) 2 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) GTCCAGTTTTGAGTTACATTC 0.577 NaN 0 0 0 0.00308 0 8 31 RIPK3 11035 broad.mit.edu 37 14 24808466 24808466 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:24808466C>G uc001wpb.2 - 3 436 c.226G>C c.(226-228)GAA>CAA p.E76Q RIPK3_uc001wpa.2_5'Flank|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.E76Q NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 76 Protein kinase. apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity central_nervous_system(2)|ovary(1)|lung(1) 4 GBM - Glioblastoma multiforme(265;0.0181) ATAACCCCTTCTAGGCGCAGC 0.572 NaN 0 0 0 0.016522 0 22 91 ZFYVE26 23503 broad.mit.edu 37 14 68228128 68228128 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:68228128C>T uc001xka.2 - 35 6682 c.6543G>A c.(6541-6543)GTG>GTA p.V2181V ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkb.2_Silent_p.V27V|ZFYVE26_uc001xkc.3_Silent_p.V2181V NM_015346 NP_056161 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2181 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding ovary(9)|breast(2) 11 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) AGCTGTGCCTCACGTAGAAGC 0.517 NaN 0 0 0 0.021553 0 6 24 NUMB 8650 broad.mit.edu 37 14 73753886 73753886 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:73753886C>G uc001xny.1 - 9 907 c.587G>C c.(586-588)CGT>CCT p.R196P NUMB_uc010aro.1_Missense_Mutation_p.R196P|NUMB_uc010arp.1_Missense_Mutation_p.R185P|NUMB_uc010arq.1_Missense_Mutation_p.R196P|NUMB_uc010arr.1_Missense_Mutation_p.R185P|NUMB_uc001xoa.1_Missense_Mutation_p.R196P|NUMB_uc001xnz.1_Missense_Mutation_p.R185P|NUMB_uc001xob.1_Missense_Mutation_p.R185P|NUMB_uc001xod.1_Missense_Mutation_p.R196P|NUMB_uc001xoc.1_Missense_Mutation_p.R196P|NUMB_uc010ars.1_Missense_Mutation_p.R185P|NUMB_uc001xof.1_Missense_Mutation_p.R160P|NUMB_uc001xog.2_Missense_Mutation_p.R185P|NUMB_uc001xoh.1_Missense_Mutation_p.R185P|NUMB_uc010ttz.1_5'Flank NM_001005743 NP_001005743 P49757 NUMB_HUMAN numb homolog isoform 1 196 axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis integral to plasma membrane ovary(2)|central_nervous_system(1)|skin(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161) TGTTGTGACACGGAATGATCC 0.448 NaN 0 0 0 0.028581 0 14 83 BAG5 9529 broad.mit.edu 37 14 104027261 104027261 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:104027261C>G uc001yni.1 - 2 475 c.241G>C c.(241-243)GAG>CAG p.E81Q KLC1_uc010tyd.1_5'Flank|BAG5_uc001ynh.1_Missense_Mutation_p.E122Q|BAG5_uc001ynj.1_Missense_Mutation_p.E81Q|C14orf153_uc001ynl.3_5'Flank|C14orf153_uc010tyc.1_5'Flank NM_004873 NP_004864 Q9UL15 BAG5_HUMAN BCL2-associated athanogene 5 isoform b 81 BAG 1. apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly inclusion body|perinuclear region of cytoplasm chaperone binding|ubiquitin protein ligase binding ovary(2) 2 Melanoma(154;0.155) Epithelial(46;0.144) TGCTCCAACTCTTTGAGAAGA 0.428 NaN 0 0 0 0.008361 0 24 109 PLCB2 5330 broad.mit.edu 37 15 40594185 40594185 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:40594185G>C uc001zld.2 - 7 856 c.555C>G c.(553-555)CTC>CTG p.L185L PLCB2_uc010bbo.2_Silent_p.L185L|PLCB2_uc010ucm.1_Silent_p.L185L|PLCB2_uc001zle.3_Silent_p.L185L NM_004573 NP_004564 Q00722 PLCB2_HUMAN phospholipase C, beta 2 185 activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(3)|breast(3)|kidney(1)|pancreas(1) 8 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508) GGCAGGCACTGAGAGCAGCTT 0.567 NaN 0 0 0 0.020292 0 15 62 INO80 54617 broad.mit.edu 37 15 41388442 41388442 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:41388442G>A uc001zni.2 - 2 280 c.67C>T c.(67-69)CAG>TAG p.Q23* INO80_uc010ucu.1_RNA NM_017553 NP_060023 Q9ULG1 INO80_HUMAN INO80 complex homolog 1 23 Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity ovary(2)|pancreas(1)|skin(1) 4 TCCAAGTACTGAAGATAGAGG 0.483 NaN 0 0 0 0.021553 0 5 51 TLN2 83660 broad.mit.edu 37 15 62993399 62993399 + Missense_Mutation SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:62993399T>G uc002alb.3 + 14 1682 c.1682T>G c.(1681-1683)GTT>GGT p.V561G NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN talin 2 561 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2) 11 GCTTCAGTTGTTAACCTCACA 0.403 NaN 0 0 0 0.014758 0 5 43 MYO9A 4649 broad.mit.edu 37 15 72186022 72186022 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:72186022C>G uc002atl.3 - 26 5613 c.5140G>C c.(5140-5142)GAG>CAG p.E1714Q MYO9A_uc002atn.1_Missense_Mutation_p.E1695Q|MYO9A_uc002atk.2_Missense_Mutation_p.E438Q|MYO9A_uc002atm.1_Missense_Mutation_p.E438Q NM_006901 NP_008832 B2RTY4 MYO9A_HUMAN myosin IXA 1714 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity ovary(1)|pancreas(1)|skin(1) 3 AAACTTACCTCTCTTTGGCCT 0.368 NaN 0 0 0 0.001984 0 7 34 SENP8 123228 broad.mit.edu 37 15 72432366 72432366 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:72432366G>C uc002atp.2 + 2 501 c.402G>C c.(400-402)GAG>GAC p.E134D NM_145204 NP_660205 Q96LD8 SENP8_HUMAN SUMO/sentrin specific peptidase family member 8 134 Protease. proteolysis cysteine-type peptidase activity|protein binding ovary(1)|skin(1) 2 AGGTAGCAGAGAAACTGGAGG 0.453 NaN 0 0 0 0.010729 0 11 74 MCTP2 55784 broad.mit.edu 37 15 94857556 94857556 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:94857556C>T uc002btj.2 + 2 576 c.511C>T c.(511-513)CAT>TAT p.H171Y MCTP2_uc010urg.1_Missense_Mutation_p.H171Y|MCTP2_uc002bti.2_Missense_Mutation_p.H171Y|MCTP2_uc010boj.2_5'UTR|MCTP2_uc010bok.2_Missense_Mutation_p.H171Y|MCTP2_uc002btg.3_Missense_Mutation_p.H171Y|MCTP2_uc002bth.3_Missense_Mutation_p.H171Y NM_018349 NP_060819 Q6DN12 MCTP2_HUMAN multiple C2 domains, transmembrane 2 isoform 1 171 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding ovary(1)|pancreas(1)|skin(1) 3 Lung NSC(78;0.0821)|all_lung(78;0.148) BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593) GACATCTCAACATTTTGAAGA 0.318 NaN 0 0 0 0.009096 0 4 21 CHSY1 22856 broad.mit.edu 37 15 101718791 101718791 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:101718791G>A uc002bwt.1 - 4 1694 c.1211C>T c.(1210-1212)GCC>GTC p.A404V CHSY1_uc010usd.1_Missense_Mutation_p.A132V NM_014918 NP_055733 Q86X52 CHSS1_HUMAN chondroitin sulfate synthase 1 404 Lumenal (Potential). chondroitin sulfate biosynthetic process Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity 0 Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) GTCGTCCAAGGCTTCCCTCTG 0.532 NaN 0 0 0 0.007413 0 19 91 ALG1 56052 broad.mit.edu 37 16 5123174 5123174 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:5123174T>C uc002cym.2 + 3 348 c.307T>C c.(307-309)TAC>CAC p.Y103H ALG1_uc002cyj.2_5'UTR|ALG1_uc002cyn.2_Missense_Mutation_p.Y103H|ALG1_uc010bue.2_5'UTR|ALG1_uc010uxy.1_5'UTR NM_019109 NP_061982 Q9BT22 ALG1_HUMAN beta-1,4-mannosyltransferase 103 Lumenal (Potential). dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane chitobiosyldiphosphodolichol beta-mannosyltransferase activity upper_aerodigestive_tract(1)|ovary(1) 2 Ovarian(90;0.0164) AGTTTTCCAGTACGGAGTCAA 0.517 NaN 0 0 0 0.028581 0 15 50 PLCG2 5336 broad.mit.edu 37 16 81888168 81888168 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:81888168G>A uc002fgt.2 + 3 465 c.313G>A c.(313-315)GTC>ATC p.V105I PLCG2_uc010chg.1_Missense_Mutation_p.V105I NM_002661 NP_002652 P16885 PLCG2_HUMAN phospholipase C, gamma 2 105 PH. intracellular signal transduction|phospholipid catabolic process|platelet activation plasma membrane phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity large_intestine(4)|lung(2)|ovary(1)|skin(1) 8 CACTCAGTTCGTCCTCAGCAC 0.498 NaN 0 0 0 0.023175 0 35 121 ATP1B2 482 broad.mit.edu 37 17 7557218 7557218 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7557218G>A uc002gif.1 + 3 884 c.301G>A c.(301-303)GAA>AAA p.E101K NM_001678 NP_001669 P14415 AT1B2_HUMAN Na+/K+ -ATPase beta 2 subunit 101 Extracellular (Potential). ATP biosynthetic process|blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|sodium:potassium-exchanging ATPase activity p.0?(2)|p.?(1) central_nervous_system(1)|pancreas(1) 2 all_cancers(10;0.000178)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168) CAGTGACACTGAAAGCTGGGA 0.498 NaN 0 0 0 0.006122 0 19 84 TP53 7157 broad.mit.edu 37 17 7577082 7577082 + Nonsense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 C A C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7577082C>A uc002gim.2 - 8 1050 c.856G>T c.(856-858)GAA>TAA p.E286* TP53_uc002gig.1_Intron|TP53_uc002gih.2_Nonsense_Mutation_p.E286*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.E154*|TP53_uc010cng.1_Nonsense_Mutation_p.E154*|TP53_uc002gii.1_Nonsense_Mutation_p.E154*|TP53_uc010cnh.1_Nonsense_Mutation_p.E286*|TP53_uc010cni.1_Nonsense_Mutation_p.E286*|TP53_uc002gij.2_Nonsense_Mutation_p.E286* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 286 |Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). E -> V (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> G (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E286K(52)|p.E286*(14)|p.E286G(14)|p.0?(7)|p.E286V(6)|p.E286Q(5)|p.?(2)|p.E286D(2)|p.E286E(2)|p.R283fs*16(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.R283fs*56(1)|p.E286A(1)|p.V272_K292del21(1)|p.R283fs*59(1)|p.E285_L289delEEENL(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGATTCTCTTCCTCTGTGCGC 0.557 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 1 0 6.94344e-10 0.006122 7.25128e-10 19 53 TP53 7157 broad.mit.edu 37 17 7578534 7578534 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:7578534C>G uc002gim.2 - 5 590 c.396G>C c.(394-396)AAG>AAC p.K132N TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.2_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.1_Missense_Mutation_p.K93N NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 132 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). K -> T (in sporadic cancers; somatic mutation).|KM -> NL (in a sporadic cancer; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> R (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> Q (in sporadic cancers; somatic mutation).|K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.K132N(40)|p.K132R(32)|p.K132E(19)|p.K132Q(13)|p.K132M(9)|p.0?(7)|p.Y126_K132delYSPALNK(6)|p.K132T(4)|p.K132*(2)|p.N131fs*27(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.K132_A138delKMFCQLA(1)|p.S127fs*36(1)|p.K132K(1)|p.K132W(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCAAAACATCTTGTTGAGGG 0.562 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.013537 0 11 54 RICH2 9912 broad.mit.edu 37 17 12819241 12819241 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:12819241G>C uc002gnr.3 + 5 627 c.300G>C c.(298-300)GAG>GAC p.E100D RICH2_uc010vvk.1_Missense_Mutation_p.E100D|RICH2_uc010vvl.1_Missense_Mutation_p.E100D|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E100D|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 100 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 TCTGTGGAGAGACGGAGGACA 0.493 NaN 0 0 0 0.013537 0 12 27 RICH2 9912 broad.mit.edu 37 17 12819326 12819326 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:12819326G>A uc002gnr.3 + 5 712 c.385G>A c.(385-387)GAG>AAG p.E129K RICH2_uc010vvk.1_Missense_Mutation_p.E129K|RICH2_uc010vvl.1_Missense_Mutation_p.E129K|RICH2_uc002gns.3_5'UTR|RICH2_uc010vvm.1_Missense_Mutation_p.E129K|RICH2_uc010vvn.1_RNA NM_014859 NP_055674 Q17R89 RHG44_HUMAN Rho GTPase-activating protein RICH2 129 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity 0 TTTGCTGGCGGAGGTAAGCAG 0.512 NaN 0 0 0 0.00308 0 8 26 LGALS9C 654346 broad.mit.edu 37 17 18394613 18394613 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:18394613G>A uc002gtw.2 + 7 673 c.603G>A c.(601-603)CAG>CAA p.Q201Q LGALS9C_uc010vyb.1_Silent_p.Q113Q NM_001040078 NP_001035167 Q6DKI2 LEG9C_HUMAN galectin 9 like 201 sugar binding ovary(1) 1 ACACGGTGCAGAGTGCCTCTG 0.542 NaN 0 0 0 0.010818 0 30 168 ACCN1 40 broad.mit.edu 37 17 32483149 32483149 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:32483149C>T uc002hhu.2 - 1 677 c.403G>A c.(403-405)GAG>AAG p.E135K NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 135 Extracellular (By similarity). central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Breast(31;0.042)|Ovarian(249;0.202) UCEC - Uterine corpus endometrioid carcinoma (308;0.13)|BRCA - Breast invasive adenocarcinoma(366;0.215) Amiloride(DB00594) CGCAGGGCCTCCAGCACGGAG 0.597 NaN 0 0 0 0.027356 0 26 119 KRT9 3857 broad.mit.edu 37 17 39727637 39727637 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:39727637G>A uc002hxe.3 - 1 674 c.608C>T c.(607-609)CCT>CTT p.P203L JUP_uc010wfs.1_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN keratin 9 203 Rod.|Linker 1. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1)|pancreas(1) 3 Breast(137;0.000307) GTTATAATAAGGGGAGTAGTT 0.443 NaN 0 0 0 0.007291 0 30 143 MFSD11 79157 broad.mit.edu 37 17 74774367 74774367 + Missense_Mutation SNP C C T rs3198672 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:74774367C>T uc002jta.2 + 14 2256 c.1283C>T c.(1282-1284)TCT>TTT p.S428F MFSD11_uc002jtb.2_Missense_Mutation_p.S428F|MFSD11_uc010dha.2_Missense_Mutation_p.S376F|MFSD11_uc002jtc.2_Missense_Mutation_p.S428F|MFSD11_uc002jtd.3_Missense_Mutation_p.S428F|MFSD11_uc010dhb.2_Missense_Mutation_p.S376F|MFSD11_uc002jte.2_Missense_Mutation_p.S428F NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 428 Helical; (Potential). integral to membrane ovary(1) 1 GGAACAATTTCTTTCTTCACT 0.493 NaN 0 0 0 0.010729 0 11 79 MFSD11 79157 broad.mit.edu 37 17 74774374 74774374 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:74774374C>T uc002jta.2 + 14 2263 c.1290C>T c.(1288-1290)TTC>TTT p.F430F MFSD11_uc002jtb.2_Silent_p.F430F|MFSD11_uc010dha.2_Silent_p.F378F|MFSD11_uc002jtc.2_Silent_p.F430F|MFSD11_uc002jtd.3_Silent_p.F430F|MFSD11_uc010dhb.2_Silent_p.F378F|MFSD11_uc002jte.2_Silent_p.F430F NM_024311 NP_077287 O43934 MFS11_HUMAN major facilitator superfamily domain containing 430 Helical; (Potential). integral to membrane ovary(1) 1 TTTCTTTCTTCACTGTGGAAT 0.498 NaN 0 0 0 0.016723 0 11 81 P4HB 5034 broad.mit.edu 37 17 79803505 79803505 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:79803505C>G uc002kbn.1 - 9 1488 c.1291G>C c.(1291-1293)GAG>CAG p.E431Q P4HB_uc002kbl.1_Missense_Mutation_p.E108Q|P4HB_uc002kbm.1_Missense_Mutation_p.E108Q NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 431 Thioredoxin 2. cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) GCCTCCACCTCGTTGGCAGTC 0.582 NaN 0 0 0 0.009096 0 4 25 P4HB 5034 broad.mit.edu 37 17 79804359 79804359 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr17:79804359C>T uc002kbn.1 - 7 1199 c.1002G>A c.(1000-1002)CTG>CTA p.L334L P4HB_uc002kbl.1_Silent_p.L11L|P4HB_uc002kbm.1_Silent_p.L11L NM_000918 NP_000909 P07237 PDIA1_HUMAN prolyl 4-hydroxylase, beta subunit precursor 334 cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509) TCTCTGCCGTCAGCTCCTCCG 0.632 NaN 0 0 0 0.007291 0 28 129 VAPA 9218 broad.mit.edu 37 18 9931810 9931810 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr18:9931810C>T uc002kok.2 + 2 382 c.83C>T c.(82-84)CCC>CTC p.P28L VAPA_uc002koj.2_Missense_Mutation_p.P28L NM_194434 NP_919415 Q9P0L0 VAPA_HUMAN vesicle-associated membrane protein-associated 28 Cytoplasmic (Potential).|MSP. cell death|cellular membrane fusion|neuron projection development|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein localization in endoplasmic reticulum|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|plasma membrane|vesicle protein heterodimerization activity|signal transducer activity|structural molecule activity 0 TTTACAGGCCCCTTCACAGAT 0.333 NaN 0 0 0 0.010504 0 21 88 CABLES1 91768 broad.mit.edu 37 18 20832925 20832925 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr18:20832925C>A uc002kuc.2 + 8 1448 c.1448C>A c.(1447-1449)ACA>AAA p.T483K C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_5'UTR|CABLES1_uc002kud.2_Missense_Mutation_p.T218K NM_001100619 NP_001094089 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 isoform 2 483 Interacts with CDK3 (By similarity). blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1) 1 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) CTGTTACAGACAACAGTGATT 0.438 NaN 1 0 5.50884e-06 0.013537 5.6419e-06 11 44 KEAP1 9817 broad.mit.edu 37 19 10610363 10610363 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:10610363C>G uc002moq.1 - 2 503 c.347G>C c.(346-348)CGG>CCG p.R116P KEAP1_uc002mor.1_Missense_Mutation_p.R116P NM_012289 NP_036421 Q14145 KEAP1_HUMAN kelch-like ECH-associated protein 1 116 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|midbody|nucleus protein binding lung(12)|breast(3)|ovary(1)|pancreas(1) 17 OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05) GCCCTGCTCCCGCAGCCCGTT 0.612 NaN 0 0 0 0.008291 0 11 58 CACNA1A 773 broad.mit.edu 37 19 13476201 13476201 + Silent SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:13476201A>G uc010dze.2 - 5 950 c.714T>C c.(712-714)CTT>CTC p.L238L CACNA1A_uc002mwy.3_Silent_p.L238L NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 238 I.|Helical; Name=S5 of repeat I; (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TTGCAAAAATAAGGATTGCAA 0.458 NaN 0 0 0 0.016723 0 14 95 CPAMD8 27151 broad.mit.edu 37 19 17088246 17088246 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:17088246C>T uc002nfb.2 - 15 1863 c.1831G>A c.(1831-1833)GTC>ATC p.V611I NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 564 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 TTCTCCCTGACGTAGAAGACC 0.592 NaN 0 0 0 0.00499 0 16 94 PLVAP 83483 broad.mit.edu 37 19 17476791 17476791 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:17476791C>T uc002ngk.1 - 3 533 c.483G>A c.(481-483)CTG>CTA p.L161L NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 161 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 CCTTCTGATTCAGCATGAAGA 0.572 NaN 0 0 0 0.010729 0 12 58 PLVAP 83483 broad.mit.edu 37 19 17487766 17487766 + Missense_Mutation SNP C C T rs144117840 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:17487766C>T uc002ngk.1 - 1 382 c.332G>A c.(331-333)CGC>CAC p.R111H NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 111 Extracellular (Potential). caveola|integral to membrane|perinuclear region of cytoplasm 0 GGCATTGATGCGGTCCAGGTC 0.488 NaN 0 0 0 0.010729 0 12 66 IL12RB1 3594 broad.mit.edu 37 19 18174767 18174767 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:18174767C>T uc002nhw.1 - 13 1601 c.1537G>A c.(1537-1539)GGT>AGT p.G513S IL12RB1_uc010xqb.1_Missense_Mutation_p.G513S|IL12RB1_uc002nhx.1_Missense_Mutation_p.G553S NM_005535 NP_005526 P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 isoform 1 513 Extracellular (Potential).|Fibronectin type-III 5. cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity pancreas(1) 1 TAGGCTACACCAGCCCGCAGG 0.637 NaN 0 0 0 0.001984 0 6 29 ISYNA1 51477 broad.mit.edu 37 19 18547041 18547041 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:18547041G>A uc002njd.1 - 7 826 c.776C>T c.(775-777)TCG>TTG p.S259L ISYNA1_uc002nja.1_Missense_Mutation_p.S131L|ISYNA1_uc002njb.1_Missense_Mutation_p.S177L|ISYNA1_uc002njc.1_Missense_Mutation_p.S109L|ISYNA1_uc010xqh.1_Missense_Mutation_p.S57L|ISYNA1_uc002nje.1_Missense_Mutation_p.S205L|ISYNA1_uc002njf.1_Missense_Mutation_p.S109L NM_016368 NP_057452 Q9NPH2 INO1_HUMAN inositol-3-phosphate synthase 1 259 inositol biosynthetic process|phospholipid biosynthetic process cytoplasm binding|inositol-3-phosphate synthase activity ovary(1)|pancreas(1) 2 CGTGGAGGGCGACACCTCCAG 0.677 NaN 0 0 0 0.001984 0 7 48 MLL4 9757 broad.mit.edu 37 19 36221656 36221656 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:36221656G>A uc010eei.2 + 27 5325 c.5325G>A c.(5323-5325)TGG>TGA p.W1775* NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1775 FYR N-terminal. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GGCGCTGCTGGTATCGGTGCC 0.597 NaN 0 0 0 0.008291 0 11 70 ZNF404 342908 broad.mit.edu 37 19 44378165 44378165 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:44378165C>T uc002oxs.3 - 2 201 c.192G>A c.(190-192)GCG>GCA p.A64A NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) CCTGATGGTACGCATTTACTT 0.318 NaN 0 0 0 0.008291 0 11 51 IRF2BP1 26145 broad.mit.edu 37 19 46387808 46387808 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:46387808C>T uc002pds.1 - 1 1569 c.1225G>A c.(1225-1227)GGC>AGC p.G409S NM_015649 NP_056464 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) TACGGGCCGCCGGGTGCCACC 0.721 NaN 0 0 0 0.008291 0 10 53 GRLF1 2909 broad.mit.edu 37 19 47440647 47440647 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:47440647G>T uc010ekv.2 + 2 3808 c.3808G>T c.(3808-3810)GAG>TAG p.E1270* NM_004491 NP_004482 Q9NRY4 RHG35_HUMAN glucocorticoid receptor DNA binding factor 1 1270 Rho-GAP. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity central_nervous_system(1) 1 all_cancers(25;1.51e-09)|all_epithelial(76;1.87e-07)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|Ovarian(192;0.0129)|all_neural(266;0.026)|Breast(70;0.077) all cancers(93;2.03e-05)|OV - Ovarian serous cystadenocarcinoma(262;2.57e-05)|Epithelial(262;0.00135)|GBM - Glioblastoma multiforme(486;0.0289) AAGATGTATTGAGTACATTGA 0.433 NaN 1 0 2.94398e-08 0.007413 3.04451e-08 16 65 PPFIA3 8541 broad.mit.edu 37 19 49649227 49649227 + Nonsense_Mutation SNP G G T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:49649227G>T uc002pmr.2 + 22 3105 c.2773G>T c.(2773-2775)GAG>TAG p.E925* PPFIA3_uc010yai.1_RNA|PPFIA3_uc002pms.2_Nonsense_Mutation_p.E793*|PPFIA3_uc002pmt.2_Nonsense_Mutation_p.E73*|PPFIA3_uc002pmu.1_5'Flank NM_003660 NP_003651 O75145 LIPA3_HUMAN PTPRF interacting protein alpha 3 925 cell surface|cytoplasm protein binding lung(1) 1 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677) GATGACACACGAGGAGATGGA 0.647 NaN OREG0025618 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.64293e-13 0.01892 1.75026e-13 24 130 MYBPC2 4606 broad.mit.edu 37 19 50939937 50939937 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr19:50939937G>C uc002psf.2 + 5 460 c.409G>C c.(409-411)GAG>CAG p.E137Q NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type 137 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) TTACCGCCTCGAGGTCAAAGC 0.612 NaN 0 0 0 0.021523 0 24 115 ADAM17 6868 broad.mit.edu 37 2 9637283 9637283 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:9637283G>A uc002qzu.2 - 14 1926 c.1743C>T c.(1741-1743)TTC>TTT p.F581F ADAM17_uc010ewy.2_Silent_p.F581F|ADAM17_uc010ewz.2_Intron NM_003183 NP_003174 P78536 ADA17_HUMAN a disintegrin and metalloprotease domain 17 581 Extracellular (Potential).|Cys-rich. B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding lung(1)|kidney(1) 2 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.225) CCCTCTCGCAGAAAGGGATGC 0.507 NaN 0 0 0 0.008361 0 31 79 IFT172 26160 broad.mit.edu 37 2 27706492 27706492 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:27706492G>C uc002rku.2 - 6 488 c.437C>G c.(436-438)TCT>TGT p.S146C IFT172_uc002rkw.2_Missense_Mutation_p.S146C|IFT172_uc010yls.1_Missense_Mutation_p.S125C|IFT172_uc010ezc.2_Missense_Mutation_p.S146C|IFT172_uc002rkv.2_Missense_Mutation_p.S146C NM_015662 NP_056477 Q9UG01 IF172_HUMAN selective LIM binding factor homolog 146 WD 3. cilium assembly cilium binding large_intestine(1)|ovary(1) 2 Acute lymphoblastic leukemia(172;0.155) ATAGATGGTAGATGATTTATT 0.368 NaN 0 0 0 0.00499 0 16 47 SPTBN1 6711 broad.mit.edu 37 2 54870186 54870186 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:54870186C>G uc002rxu.2 + 19 4174 c.3925C>G c.(3925-3927)CTG>GTG p.L1309V SPTBN1_uc002rxx.2_Missense_Mutation_p.L1296V NM_003128 NP_003119 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 isoform 1 1309 Spectrin 10. actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton ovary(3)|breast(2)|central_nervous_system(2)|skin(1) 8 Lung(47;0.24) AGCCAGAAATCTGCACAGTAA 0.413 NaN 0 0 0 0.00499 0 18 92 LONRF2 164832 broad.mit.edu 37 2 100903457 100903457 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:100903457C>G uc002tal.3 - 11 2629 c.1989G>C c.(1987-1989)TGG>TGC p.W663C LONRF2_uc010yvs.1_RNA NM_198461 NP_940863 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 663 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding large_intestine(1)|skin(1) 2 GAGACGCGAACCAGGAAACAG 0.498 NaN 0 0 0 0.006214 0 10 67 ARHGEF4 50649 broad.mit.edu 37 2 131704110 131704110 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:131704110C>T uc002tsa.1 + 4 849 c.329C>T c.(328-330)CCA>CTA p.P110L ARHGEF4_uc010fmw.1_Missense_Mutation_p.P756L|ARHGEF4_uc002tsb.1_Missense_Mutation_p.P110L|ARHGEF4_uc010fmx.1_Missense_Mutation_p.P110L|ARHGEF4_uc002trz.1_Missense_Mutation_p.P756L NM_015320 NP_056135 Q9NR80 ARHG4_HUMAN Rho guanine nucleotide exchange factor 4 isoform 110 ABR (APC-binding region) domain. apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|ruffle membrane protein domain specific binding|Rac guanyl-nucleotide exchange factor activity breast(3)|ovary(2)|skin(1) 6 Prostate(154;0.055) BRCA - Breast invasive adenocarcinoma(221;0.097) ATTACCTCTCCAGAGTCTTTG 0.522 NaN 0 0 0 0.006122 0 18 129 TTN 7273 broad.mit.edu 37 2 179666927 179666927 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:179666927T>C uc002und.2 - 3 458 c.233A>G c.(232-234)TAT>TGT p.Y78C TTN_uc010zfg.1_Missense_Mutation_p.Y78C|TTN_uc010zfh.1_Missense_Mutation_p.Y78C|TTN_uc010zfi.1_Missense_Mutation_p.Y78C|TTN_uc010zfj.1_Missense_Mutation_p.Y78C|TTN_uc002unb.2_Missense_Mutation_p.Y78C Q8WZ42 TITIN_HUMAN Homo sapiens cDNA FLJ32040 fis, clone NTONG2000858, highly similar to H.sapiens mRNA for titin protein. 78 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCAGGGAATATCGTCCACT 0.562 NaN 0 0 0 0.01892 0 21 108 MFF 56947 broad.mit.edu 37 2 228195544 228195544 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr2:228195544G>A uc002vos.2 + 4 659 c.241G>A c.(241-243)GAG>AAG p.E81K MFF_uc002vot.2_Missense_Mutation_p.E55K|MFF_uc002vou.2_Missense_Mutation_p.E81K|MFF_uc002vov.2_Missense_Mutation_p.E55K|MFF_uc002vow.2_Missense_Mutation_p.E55K|MFF_uc002vox.2_Missense_Mutation_p.E55K|MFF_uc002voy.2_Missense_Mutation_p.E81K|MFF_uc002voz.2_Missense_Mutation_p.E55K NM_020194 NP_064579 Q9GZY8 MFF_HUMAN mitochondrial fission factor 81 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane large_intestine(1) 1 GCAAGTTCCGGAGAGGATTGT 0.388 NaN 0 0 0 0.006214 0 9 29 TRIB3 57761 broad.mit.edu 37 20 377161 377161 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:377161G>A uc002wdm.2 + 4 1410 c.904G>A c.(904-906)GAA>AAA p.E302K TRIB3_uc002wdn.2_Missense_Mutation_p.E329K NM_021158 NP_066981 Q96RU7 TRIB3_HUMAN tribbles 3 302 Protein kinase. apoptosis|cellular lipid metabolic process|insulin receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fatty acid biosynthetic process|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein binding|positive regulation of ubiquitin-protein ligase activity|regulation of glucose transport|regulation of MAP kinase activity|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent cytosol|nucleus|plasma membrane ATP binding|protein kinase activity|protein kinase binding|protein kinase inhibitor activity|transcription corepressor activity|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity central_nervous_system(2) 2 all_epithelial(17;0.165)|Lung NSC(37;0.191)|Breast(17;0.231) Colorectal(46;0.101)|COAD - Colon adenocarcinoma(99;0.112) GGAGCCAGCTGAACGGCTCAC 0.687 NaN 0 0 0 0.00499 0 17 101 KIF16B 55614 broad.mit.edu 37 20 16360474 16360474 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:16360474G>A uc002wpg.1 - 19 2331 c.2173C>T c.(2173-2175)CAG>TAG p.Q725* KIF16B_uc002wpe.1_Nonsense_Mutation_p.Q107*|KIF16B_uc002wpf.1_Nonsense_Mutation_p.Q107*|KIF16B_uc010gch.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gci.1_Nonsense_Mutation_p.Q725*|KIF16B_uc010gcj.1_Nonsense_Mutation_p.Q736* NM_024704 NP_078980 Q96L93 KI16B_HUMAN kinesin-like motor protein C20orf23 725 Glu-rich.|Potential. cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling early endosome membrane|microtubule ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1) 8 TGAAATATCTGAAACTTCTCA 0.443 NaN 0 0 0 0.008361 0 29 108 MYT1 4661 broad.mit.edu 37 20 62836958 62836958 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr20:62836958G>A uc002yii.2 + 6 566 c.202G>A c.(202-204)GAG>AAG p.E68K MYT1_uc002yih.2_Missense_Mutation_p.E68K|MYT1_uc002yij.2_5'Flank NM_004535 NP_004526 Q01538 MYT1_HUMAN myelin transcription factor 1 68 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CGCTGAGGCTGAGCACCTGGT 0.622 NaN 0 0 0 0.028581 0 15 74 KRTAP26-1 388818 broad.mit.edu 37 21 31691783 31691783 + Missense_Mutation SNP T T A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr21:31691783T>A uc002ynw.2 - 1 825 c.571A>T c.(571-573)AGT>TGT p.S191C NM_203405 NP_981950 Q6PEX3 KR261_HUMAN keratin associated protein 26-1 191 intermediate filament ovary(1) 1 TGGCAACCACTGAACAGAGGC 0.532 NaN 0 0 0 0.01441 0 54 314 HUNK 30811 broad.mit.edu 37 21 33371331 33371331 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr21:33371331G>A uc002yph.2 + 11 2339 c.1979G>A c.(1978-1980)CGA>CAA p.R660Q NM_014586 NP_055401 P57058 HUNK_HUMAN hormonally upregulated Neu-associated kinase 660 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity stomach(1)|skin(1) 2 GTGAAAAGCCGAGGCCGGTTC 0.612 NaN 0 0 0 0.024245 0 16 97 AGPAT3 56894 broad.mit.edu 37 21 45389127 45389127 + Silent SNP G G A rs115875072 byFrequency TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr21:45389127G>A uc002zdv.2 + 5 699 c.477G>A c.(475-477)CTG>CTA p.L159L AGPAT3_uc002zdw.2_Silent_p.L159L|AGPAT3_uc002zdx.2_Silent_p.L246L|AGPAT3_uc002zdy.2_Silent_p.L97L NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 159 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) TCGAAGGGCTGAGGCGCCTGT 0.632 NaN 0 0 0 0.008361 0 29 86 ARVCF 421 broad.mit.edu 37 22 19960805 19960805 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:19960805G>A uc002zqz.2 - 14 2546 c.2275C>T c.(2275-2277)CGC>TGC p.R759C ARVCF_uc002zqy.2_Missense_Mutation_p.R275C NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 759 ARM 9. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) TGTGCATTGCGCACATTCCGC 0.637 NaN 0 0 0 0.014758 0 5 20 MYO18B 84700 broad.mit.edu 37 22 26193971 26193971 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:26193971A>G uc003abz.1 + 12 2678 c.2428A>G c.(2428-2430)ATG>GTG p.M810V MYO18B_uc003aca.1_Missense_Mutation_p.M691V|MYO18B_uc010guy.1_Missense_Mutation_p.M691V|MYO18B_uc010guz.1_Missense_Mutation_p.M691V|MYO18B_uc011aka.1_Intron|MYO18B_uc011akb.1_Missense_Mutation_p.M323V NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN myosin XVIIIB 810 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity ovary(5)|central_nervous_system(3)|large_intestine(2)|breast(2) 12 CCAGGGTGCCATGGAGATGCT 0.617 NaN 0 0 0 0.021553 0 6 128 TMPRSS6 164656 broad.mit.edu 37 22 37465272 37465272 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:37465272C>G uc003aqs.1 - 16 2095 c.1981G>C c.(1981-1983)GAA>CAA p.E661Q TMPRSS6_uc003aqt.1_Missense_Mutation_p.E652Q NM_153609 NP_705837 Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 661 Peptidase S1.|Extracellular (Potential). angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(4)|ovary(1)|skin(1) 6 CTGTCCTCTTCGTGGTACGGG 0.692 NaN 0 0 0 0.014758 0 4 21 PICK1 9463 broad.mit.edu 37 22 38470962 38470962 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:38470962C>G uc003auq.2 + 13 1461 c.1071C>G c.(1069-1071)GTC>GTG p.V357V PICK1_uc003aur.2_Silent_p.V357V|PICK1_uc003aus.2_Silent_p.V357V|PICK1_uc003aut.2_Silent_p.V357V NM_012407 NP_036539 Q9NRD5 PICK1_HUMAN protein interacting with C kinase 1 357 AH. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding 0 Melanoma(58;0.045) ATGCCGACGTCTTCCCCATCG 0.532 NaN 0 0 0 0.024245 0 16 59 CACNA1I 8911 broad.mit.edu 37 22 40030684 40030684 + Missense_Mutation SNP C C A rs61417992 TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr22:40030684C>A uc003ayc.2 + 5 695 c.695C>A c.(694-696)GCG>GAG p.A232E CACNA1I_uc003ayd.2_Missense_Mutation_p.A232E|CACNA1I_uc003aye.2_Missense_Mutation_p.A147E|CACNA1I_uc003ayf.2_Missense_Mutation_p.A147E NM_021096 NP_066919 Q9P0X4 CAC1I_HUMAN calcium channel, voltage-dependent, T type, 232 I.|Helical; Name=S5 of repeat I; (Potential). axon guidance|signal transduction voltage-gated calcium channel complex low voltage-gated calcium channel activity|protein binding breast(1)|central_nervous_system(1) 2 Melanoma(58;0.0749) Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661) CAGCTCTGGGCGGGCCTGCTG 0.562 NaN 1 0 3.62473e-10 0.012319 3.80417e-10 21 134 ZNF660 285349 broad.mit.edu 37 3 44635868 44635868 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:44635868G>C uc003cnl.1 + 3 516 c.183G>C c.(181-183)CAG>CAC p.Q61H NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 61 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) CCTTTAGTCAGAGTGCAAACC 0.438 NaN 0 0 0 0.016723 0 14 42 ZNF660 285349 broad.mit.edu 37 3 44635933 44635933 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:44635933G>C uc003cnl.1 + 3 581 c.248G>C c.(247-249)TGT>TCT p.C83S NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 83 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TGTAAGGAGTGTGGAAAAGCT 0.443 NaN 0 0 0 0.00499 0 15 44 PRICKLE2 166336 broad.mit.edu 37 3 64132828 64132828 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:64132828G>A uc003dmf.2 - 7 1924 c.1338C>T c.(1336-1338)TTC>TTT p.F446F NM_198859 NP_942559 Q7Z3G6 PRIC2_HUMAN prickle-like 2 446 cytoplasm|nuclear membrane zinc ion binding ovary(4)|skin(1) 5 Lung NSC(201;0.136) BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497) TGGGGTTGCTGAAGTGCTTGC 0.582 NaN 0 0 0 0.008361 0 30 79 ABI3BP 25890 broad.mit.edu 37 3 100566463 100566463 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:100566463G>A uc003dun.2 - 17 1590 c.1505C>T c.(1504-1506)CCT>CTT p.P502L ABI3BP_uc003duo.2_Missense_Mutation_p.P544L|ABI3BP_uc011bhd.1_5'Flank|ABI3BP_uc003dum.2_5'Flank NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 502 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 TGTCCATGTAGGTTCAGGGCT 0.373 NaN 0 0 0 0.01441 0 86 113 SENP7 57337 broad.mit.edu 37 3 101060534 101060534 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:101060534T>C uc003dut.2 - 15 2307 c.2196A>G c.(2194-2196)CCA>CCG p.P732P SENP7_uc003duu.2_Silent_p.P667P|SENP7_uc003duv.2_Silent_p.P699P|SENP7_uc003duw.2_Silent_p.P666P|SENP7_uc003dux.2_Silent_p.P568P NM_020654 NP_065705 Q9BQF6 SENP7_HUMAN sentrin/SUMO-specific protease 7 isoform 1 732 proteolysis nucleus cysteine-type peptidase activity ovary(3)|lung(2) 5 ATTCTTCATCTGGATTAGATG 0.433 NaN 0 0 0 0.027356 0 28 38 GOLIM4 27333 broad.mit.edu 37 3 167750586 167750586 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:167750586C>T uc003ffe.2 - 9 1242 c.898G>A c.(898-900)GAA>AAA p.E300K GOLIM4_uc011bpe.1_Missense_Mutation_p.E300K|GOLIM4_uc011bpf.1_Missense_Mutation_p.E272K|GOLIM4_uc011bpg.1_Missense_Mutation_p.E272K NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 300 Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 TTTGTGTCTTCTGCTCTTCCA 0.483 NaN 0 0 0 0.01441 0 57 78 PIK3CA 5290 broad.mit.edu 37 3 178936095 178936095 + Missense_Mutation SNP A A G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:178936095A>G uc003fjk.2 + 10 1794 c.1637A>G c.(1636-1638)CAG>CGG p.Q546R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 546 PI3K helical. Q -> K (in cancer).|Q -> P (in cancer).|Q -> E (in cancer).|Q -> R (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.Q546K(54)|p.Q546R(17)|p.Q546P(10)|p.Q546E(9)|p.Q546L(6)|p.Q546H(4) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) ATCACTGAGCAGGAGAAAGAT 0.363 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.00632 0 27 32 RFC4 5984 broad.mit.edu 37 3 186512453 186512453 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr3:186512453C>T uc003fqz.2 - 5 627 c.404G>A c.(403-405)CGC>CAC p.R135H RFC4_uc011bsc.1_Missense_Mutation_p.R135H|RFC4_uc011bsd.1_Missense_Mutation_p.R135H NM_002916 NP_002907 P35249 RFC4_HUMAN replication factor C 4 135 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(2)|upper_aerodigestive_tract(1)|ovary(1)|large_intestine(1) 5 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) TTACTCTGAGCGACTTCCTGA 0.303 NaN 0 0 0 0.016723 0 13 56 AFAP1 60312 broad.mit.edu 37 4 7770734 7770734 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:7770734G>A uc003gkg.1 - 16 2276 c.2003C>T c.(2002-2004)TCT>TTT p.S668F AFAP1_uc011bwk.1_Missense_Mutation_p.S752F|LOC84740_uc003gkd.3_Intron NM_198595 NP_940997 Q8N556 AFAP1_HUMAN actin filament associated protein 1 668 actin cytoskeleton|cytoplasm|focal adhesion actin binding 0 GAACACTGGAGACTTAACGGA 0.547 NaN 0 0 0 0.013726 0 32 175 SEL1L3 23231 broad.mit.edu 37 4 25836912 25836912 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:25836912G>C uc003gru.3 - 3 919 c.767C>G c.(766-768)TCC>TGC p.S256C NM_015187 NP_056002 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 256 integral to membrane binding 0 TTCTCCACTGGAGGCATAAGG 0.488 NaN 0 0 0 0.021523 0 26 100 COX7B2 170712 broad.mit.edu 37 4 46737107 46737107 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:46737107G>C uc003gxf.2 - 3 283 c.103C>G c.(103-105)CAT>GAT p.H35D COX7B2_uc010ige.2_RNA NM_130902 NP_570972 Q8TF08 CX7B2_HUMAN cytochrome c oxidase subunit VIIb2 precursor 35 Helical; (By similarity). integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity 0 TATTTATCATGAAAATCTGGT 0.423 NaN 0 0 0 0.004482 0 8 76 LIN54 132660 broad.mit.edu 37 4 83905979 83905979 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:83905979C>T uc003hnx.3 - 2 397 c.19G>A c.(19-21)GAG>AAG p.E7K LIN54_uc003hnz.3_Missense_Mutation_p.E7K|LIN54_uc003hny.3_5'UTR|LIN54_uc010ijt.2_Missense_Mutation_p.E7K|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Missense_Mutation_p.E7K NM_194282 NP_919258 Q6MZP7 LIN54_HUMAN lin-54 homolog isoform a 7 cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 0 Hepatocellular(203;0.114) CTATTCACCTCAGCTGGCACC 0.393 NaN 0 0 0 0.010771 0 42 104 FHDC1 85462 broad.mit.edu 37 4 153864366 153864366 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:153864366G>A uc003inf.2 + 1 232 c.157G>A c.(157-159)GAG>AAG p.E53K NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 53 actin cytoskeleton organization actin binding large_intestine(1)|ovary(1) 2 all_hematologic(180;0.093) TTCAAGGGAAGAGTGTCCTTC 0.458 NaN 0 0 0 0.00308 0 6 18 FAT1 2195 broad.mit.edu 37 4 187540391 187540391 + Nonsense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr4:187540391G>C uc003izf.2 - 10 7537 c.7349C>G c.(7348-7350)TCA>TGA p.S2450* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 2450 Extracellular (Potential).|Cadherin 22. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 GTGCAGGTTTGAGAGGGTGAT 0.433 NaN HNSCC(5;0.00058) 0 0 0 0.01892 0 25 136 KIAA0947 23379 broad.mit.edu 37 5 5464640 5464640 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:5464640C>G uc003jdm.3 + 13 5415 c.5193C>G c.(5191-5193)CTC>CTG p.L1731L NM_015325 NP_056140 Q9Y2F5 K0947_HUMAN hypothetical protein LOC23379 1731 Pro-rich. ovary(1)|central_nervous_system(1) 2 CTGGCCGACTCCCACCCTGTG 0.597 NaN 0 0 0 0.001984 0 7 47 WDR70 55100 broad.mit.edu 37 5 37379600 37379600 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:37379600C>T uc003jkv.2 + 2 93 c.35C>T c.(34-36)TCA>TTA p.S12L WDR70_uc010iva.1_Missense_Mutation_p.S12L NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 12 ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTGACAGGCTCAGACGCGTCG 0.662 NaN 0 0 0 0.016522 0 23 93 CCDC125 202243 broad.mit.edu 37 5 68603838 68603838 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:68603838G>A uc003jvv.1 - 4 514 c.471C>T c.(469-471)GCC>GCT p.A157A CCDC125_uc003jvx.1_Silent_p.A156A|CCDC125_uc003jvy.1_Intron|CCDC125_uc003jvw.2_Silent_p.A32A|CCDC125_uc003jvz.1_3'UTR NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 157 Potential. cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) TATGACTTGTGGCTTTGCCCA 0.333 NaN 0 0 0 0.00308 0 7 47 CCDC125 202243 broad.mit.edu 37 5 68616398 68616398 + Translation_Start_Site SNP A A C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:68616398A>C uc003jvv.1 - 1 13 c.-30T>G c.(-32--28)ATTTT>ATGTT CCDC125_uc003jvx.1_Translation_Start_Site|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Translation_Start_Site|CCDC125_uc003jvz.1_Translation_Start_Site NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) CATAAGAAAAAATGGGCTGTC 0.308 NaN 0 0 0 0.008291 0 11 25 FAM169A 26049 broad.mit.edu 37 5 74077445 74077445 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:74077445G>C uc003kdm.2 - 13 1896 c.1853C>G c.(1852-1854)TCT>TGT p.S618C FAM169A_uc010izm.2_Missense_Mutation_p.S558C|FAM169A_uc003kdl.2_Missense_Mutation_p.S436C NM_015566 NP_056381 Q9Y6X4 F169A_HUMAN hypothetical protein LOC26049 618 0 TTGCTCGGAAGATGCTTCAGA 0.468 NaN 0 0 0 0.010504 0 21 134 GIN1 54826 broad.mit.edu 37 5 102432327 102432327 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:102432327C>T uc003koa.1 - 7 1294 c.1212G>A c.(1210-1212)CTG>CTA p.L404L GIN1_uc003kob.1_Silent_p.L257L|GIN1_uc003koc.1_Intron NM_017676 NP_060146 Q9NXP7 GIN1_HUMAN zinc finger, H2C2 domain containing 404 DNA integration DNA binding ovary(1)|skin(1) 2 all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283) Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794) TGTTGTCTCTCAGGACAGCAC 0.413 NaN 0 0 0 0.011902 0 47 179 ISOC1 51015 broad.mit.edu 37 5 128430720 128430720 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:128430720C>T uc003kva.2 + 1 279 c.261C>T c.(259-261)TTC>TTT p.F87F NM_016048 NP_057132 Q96CN7 ISOC1_HUMAN isochorismatase domain containing 1 87 peroxisome catalytic activity 0 all_cancers(142;0.0813)|Prostate(80;0.0865) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164) CCAAGGGCTTCGCGGTGAGCG 0.622 NaN 0 0 0 0.009096 0 4 23 ANKHD1-EIF4EBP3 404734 broad.mit.edu 37 5 139838425 139838425 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:139838425G>A uc003lfs.1 + 8 1582 c.1458G>A c.(1456-1458)ATG>ATA p.M486I ANKHD1_uc003lfq.1_Missense_Mutation_p.M486I|ANKHD1_uc003lfr.2_Missense_Mutation_p.M486I|ANKHD1_uc003lft.1_5'Flank|ANKHD1_uc003lfu.1_5'Flank|ANKHD1_uc003lfp.2_Missense_Mutation_p.M475I|ANKHD1_uc003lfo.2_Missense_Mutation_p.M486I|ANKHD1_uc010jfk.2_Missense_Mutation_p.M486I NM_020690 NP_065741 Q8IWZ2 Q8IWZ2_HUMAN ANKHD1-EIF4EBP3 protein 486 cytoplasm|nucleus RNA binding ovary(6) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATGAAGAAATGGTGGCACTAC 0.398 NaN 0 0 0 0.008291 0 11 79 PCDHA11 56138 broad.mit.edu 37 5 140250913 140250913 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:140250913G>A uc003lia.2 + 1 3083 c.2225G>A c.(2224-2226)CGC>CAC p.R742H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc011dae.1_Missense_Mutation_p.R742H NM_018902 NP_061725 Q9Y5I1 PCDAB_HUMAN protocadherin alpha 11 isoform 1 precursor 742 Cytoplasmic (Potential).|6 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding breast(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTGCTCCCGCGCGGTGGGG 0.677 NaN 0 0 0 0.020292 0 15 56 C5orf41 153222 broad.mit.edu 37 5 172517948 172517948 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:172517948C>T uc003mch.2 + 4 1070 c.766C>T c.(766-768)CAC>TAC p.H256Y C5orf41_uc003mcg.2_Missense_Mutation_p.H256Y|C5orf41_uc003mcf.2_Missense_Mutation_p.H256Y|C5orf41_uc011dfd.1_Missense_Mutation_p.H256Y NM_153607 NP_705835 Q8IUR6 CE041_HUMAN luman-recruiting factor 256 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCCAGATTCACACAGATGC 0.468 NaN 0 0 0 0.020292 0 14 56 NUP153 9972 broad.mit.edu 37 6 17675190 17675190 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:17675190G>A uc003ncd.1 - 5 998 c.798C>T c.(796-798)TAC>TAT p.Y266Y NUP153_uc011dje.1_Silent_p.Y266Y|NUP153_uc010jpl.1_Silent_p.Y266Y NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 266 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CTGCCCCACCGTATGTTGTTT 0.373 NaN 0 0 0 0.00499 0 17 60 GPLD1 2822 broad.mit.edu 37 6 24429286 24429286 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:24429286G>C uc003ned.1 - 25 2608 c.2497C>G c.(2497-2499)CAC>GAC p.H833D NM_001503 NP_001494 P80108 PHLD_HUMAN glycosylphosphatidylinositol specific 833 FG-GAP 7. extracellular region glycosylphosphatidylinositol phospholipase D activity ovary(2)|kidney(1) 3 CTATAGACGTGAAGTGCCCCG 0.458 NaN 0 0 0 0.00308 0 8 48 MDC1 9656 broad.mit.edu 37 6 30675515 30675515 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:30675515C>T uc003nrg.3 - 8 3281 c.2841G>A c.(2839-2841)CAG>CAA p.Q947Q MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Intron NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 947 Missing (in Ref. 2; CAH18685). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GCTCCCCTCTCTGTGTATCTC 0.592 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.014323 0 24 98 COL11A2 1302 broad.mit.edu 37 6 33142356 33142356 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:33142356C>T uc003ocx.1 - 31 2606 c.2378G>A c.(2377-2379)GGC>GAC p.G793D COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G707D|COL11A2_uc003ocz.1_Missense_Mutation_p.G686D NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 793 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 ACCCAGCTTGCCCTGTGGAGG 0.617 NaN 0 0 0 0.009096 0 3 37 DNAH8 1769 broad.mit.edu 37 6 38854693 38854693 + Nonsense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:38854693C>T uc003ooe.1 + 55 8335 c.7735C>T c.(7735-7737)CGA>TGA p.R2579* NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGGAGGTGGTCGAAATGATAT 0.378 NaN 0 0 0 0.007413 0 20 72 PKHD1 5314 broad.mit.edu 37 6 51524597 51524597 + Missense_Mutation SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:51524597T>C uc003pah.1 - 61 10603 c.10327A>G c.(10327-10329)AGT>GGT p.S3443G NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3443 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) GCATTTACACTGCTAAAGACA 0.413 NaN 0 0 0 0.021523 0 27 101 MANEA 79694 broad.mit.edu 37 6 96053848 96053848 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:96053848G>A uc003poo.1 + 5 1096 c.956G>A c.(955-957)GGA>GAA p.G319E NM_024641 NP_078917 Q5SRI9 MANEA_HUMAN mannosidase, endo-alpha 319 Catalytic (Probable).|Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane glycoprotein endo-alpha-1,2-mannosidase activity ovary(2)|breast(1) 3 all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341) BRCA - Breast invasive adenocarcinoma(108;0.148) GGTTTTGATGGAATTTACACA 0.338 NaN 0 0 0 0.008291 0 10 40 NCOA7 135112 broad.mit.edu 37 6 126210736 126210736 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:126210736C>T uc010kes.2 + 11 1985 c.1536C>T c.(1534-1536)AAC>AAT p.N512N NCOA7_uc003qae.3_Silent_p.N512N|NCOA7_uc003qah.2_Silent_p.N501N|NCOA7_uc003qai.2_Silent_p.N512N|NCOA7_uc010ket.2_Silent_p.N397N NM_181782 NP_861447 Q8NI08 NCOA7_HUMAN nuclear receptor coactivator 7 isoform 1 512 LNIHEDL->ANAHEDA: No action on the E2- induced ESR1 binding. cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(2)|ovary(1) 3 UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237) ACACACTGAACATACATGAAG 0.388 NaN 0 0 0 0.020292 0 14 63 CNKSR3 154043 broad.mit.edu 37 6 154732170 154732170 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr6:154732170G>C uc003qpy.2 - 11 1682 c.1177C>G c.(1177-1179)CGG>GGG p.R393G NM_173515 NP_775786 Q6P9H4 CNKR3_HUMAN CNKSR family member 3 393 DUF1170. negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport cytoplasm|membrane ovary(2)|breast(1)|skin(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627) CTTCGTCTCCGGCTTTCCTGG 0.483 NaN 0 0 0 0.016723 0 14 150 SEMA3D 223117 broad.mit.edu 37 7 84651768 84651768 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:84651768C>T uc003uic.2 - 11 1393 c.1353G>A c.(1351-1353)CAG>CAA p.Q451Q SEMA3D_uc010led.2_Silent_p.Q451Q|SEMA3D_uc003uib.2_Silent_p.Q90Q NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 451 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 CCACCACTATCTGTGTCAGTC 0.403 NaN 0 0 0 0.019004 0 34 160 MEPCE 56257 broad.mit.edu 37 7 100028509 100028509 + Missense_Mutation SNP C C A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:100028509C>A uc003uuw.2 + 1 981 c.868C>A c.(868-870)CTC>ATC p.L290I ZCWPW1_uc003uut.2_5'Flank|ZCWPW1_uc011kjr.1_5'Flank|ZCWPW1_uc003uuu.1_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc003uuv.2_5'UTR NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN bin3, bicoid-interacting 3 290 methyltransferase activity upper_aerodigestive_tract(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CACAGCCCCTCTCACCCCCTT 0.667 NaN 1 0 4.34311e-12 0.015359 4.60369e-12 36 102 DOCK4 9732 broad.mit.edu 37 7 111580178 111580178 + Silent SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:111580178G>A uc003vfx.2 - 11 1233 c.964C>T c.(964-966)CTG>TTG p.L322L DOCK4_uc003vfy.2_Silent_p.L322L|DOCK4_uc003vga.1_5'UTR|DOCK4_uc010ljt.1_Silent_p.L322L NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 322 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TATACTTTCAGAATGAGGTCA 0.493 NaN 0 0 0 0.013537 0 12 67 CREB3L2 64764 broad.mit.edu 37 7 137590506 137590506 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:137590506G>A uc003vtw.2 - 6 1252 c.857C>T c.(856-858)CCC>CTC p.P286L CREB3L2_uc003vtx.1_Missense_Mutation_p.P286L|CREB3L2_uc003vtv.2_Missense_Mutation_p.P223L NM_194071 NP_919047 Q70SY1 CR3L2_HUMAN cAMP responsive element binding protein 3-like 286 Cytoplasmic (Potential). chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity FUS/CREB3L2(158) soft_tissue(158)|upper_aerodigestive_tract(1)|ovary(1) 160 TTTTGACAGGGGCAATTTGGT 0.522 NaN T FUS fibromyxoid sarcoma 0 0 0 0.015359 0 34 161 VIPR2 7434 broad.mit.edu 37 7 158935195 158935195 + Nonsense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr7:158935195G>A uc003woh.2 - 2 280 c.94C>T c.(94-96)CAG>TAG p.Q32* VIPR2_uc010lqx.2_RNA|VIPR2_uc010lqy.2_RNA NM_003382 NP_003373 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 32 Extracellular (Potential). cell-cell signaling integral to plasma membrane lung(1)|central_nervous_system(1) 2 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) TCTTCCTCCTGTATTTCCAGA 0.398 NaN 0 0 0 0.021523 0 23 99 MTUS1 57509 broad.mit.edu 37 8 17611479 17611479 + Missense_Mutation SNP T T G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:17611479T>G uc003wxv.2 - 2 2312 c.1838A>C c.(1837-1839)GAA>GCA p.E613A MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.E613A|MTUS1_uc010lsz.2_Missense_Mutation_p.E613A NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 613 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) GTCAACATCTTCCTGATTCGA 0.428 NaN 0 0 0 0.015359 0 33 125 PREX2 80243 broad.mit.edu 37 8 68956794 68956794 + Silent SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:68956794G>C uc003xxv.1 + 8 939 c.912G>C c.(910-912)GTG>GTC p.V304V PREX2_uc003xxu.1_Silent_p.V304V|PREX2_uc011lez.1_Silent_p.V239V NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 304 PH. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 ACACGGAGGTGATGGAAGTGG 0.413 NaN 0 0 0 0.024245 0 13 120 FAM164A 51101 broad.mit.edu 37 8 79609675 79609675 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:79609675C>G uc003ybd.2 + 6 640 c.538C>G c.(538-540)CCT>GCT p.P180A NM_016010 NP_057094 Q96GY0 F164A_HUMAN hypothetical protein LOC51101 180 ovary(1) 1 GTCAAATTCTCCTGGAACTGC 0.368 NaN 0 0 0 0.006214 0 9 55 CNBD1 168975 broad.mit.edu 37 8 88218312 88218312 + Silent SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:88218312C>T uc003ydy.2 + 5 571 c.523C>T c.(523-525)CTG>TTG p.L175L NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 175 ovary(3) 3 TGATAAGCATCTGAAAACACT 0.398 NaN 0 0 0 0.014758 0 5 30 ATAD2 29028 broad.mit.edu 37 8 124383508 124383508 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:124383508C>G uc003yqh.3 - 5 715 c.607G>C c.(607-609)GAA>CAA p.E203Q ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E203Q NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 203 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) CCCAAGTCTTCAAGTTCTCTC 0.308 NaN 0 0 0 0.004482 0 8 28 SCRIB 23513 broad.mit.edu 37 8 144886946 144886946 + Missense_Mutation SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr8:144886946A>T uc003yzp.1 - 21 2808 c.2801T>A c.(2800-2802)CTG>CAG p.L934Q SCRIB_uc003yzn.1_5'Flank|SCRIB_uc003yzo.1_Missense_Mutation_p.L934Q NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 934 PDZ 2.|Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) AGCGGTCAGCAGGGAGACGGC 0.602 NaN 0 0 0 0.014758 0 4 22 DOCK8 81704 broad.mit.edu 37 9 336580 336580 + Splice_Site SNP A A T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:336580A>T uc003zgf.2 + 12 1398 c.1286_splice c.e12-2 p.G429_splice DOCK8_uc011lls.1_Splice_Site_p.G429_splice|DOCK8_uc010mgu.2_Splice_Site|DOCK8_uc010mgv.2_Splice_Site_p.G361_splice|DOCK8_uc003zgg.2_Splice_Site_p.G361_splice|DOCK8_uc003zgh.2_Splice_Site NM_203447 NP_982272 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3)|central_nervous_system(3) 6 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) TTTTTCTTAAAGGGAGAAGCT 0.423 NaN 0 0 0 0.013537 0 13 51 RFX3 5991 broad.mit.edu 37 9 3330299 3330299 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:3330299C>T uc003zhr.2 - 5 746 c.434G>A c.(433-435)GGT>GAT p.G145D RFX3_uc010mhd.2_Missense_Mutation_p.G145D|RFX3_uc003zhs.1_Missense_Mutation_p.G145D|RFX3_uc003zht.1_Missense_Mutation_p.G145D|RFX3_uc010mhe.1_Missense_Mutation_p.G145D NM_134428 NP_602304 P48380 RFX3_HUMAN regulatory factor X3 isoform b 145 cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion nuclear chromatin protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337) CACTGAGTGACCAGAATTCTC 0.458 NaN 0 0 0 0.00308 0 7 63 TBC1D2 55357 broad.mit.edu 37 9 100991351 100991351 + Missense_Mutation SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:100991351C>G uc011lvb.1 - 5 1041 c.861G>C c.(859-861)CAG>CAC p.Q287H TBC1D2_uc004ayq.2_Missense_Mutation_p.Q287H|TBC1D2_uc004ayr.2_Missense_Mutation_p.Q69H|TBC1D2_uc004ayo.3_Missense_Mutation_p.Q287H NM_018421 NP_060891 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 287 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity ovary(3) 3 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGTGTTGTTCTGGCGCTTGG 0.532 NaN 0 0 0 0.016723 0 14 89 GOLGA1 2800 broad.mit.edu 37 9 127642825 127642825 + Missense_Mutation SNP C C T rs146171341 by1000genomes TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:127642825C>T uc004bpc.2 - 23 2630 c.2288G>A c.(2287-2289)CGG>CAG p.R763Q GOLGA1_uc010mws.2_RNA NM_002077 NP_002068 Q92805 GOGA1_HUMAN golgin 97 763 Golgi cisterna membrane ovary(1) 1 CCATGGTATCCGAGGGTTTGA 0.502 NaN 0 0 0 0.01892 0 23 169 NUP188 23511 broad.mit.edu 37 9 131760889 131760889 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:131760889C>T uc004bws.1 + 32 3524 c.3502C>T c.(3502-3504)CGG>TGG p.R1168W NUP188_uc004bwu.2_Missense_Mutation_p.R511W NM_015354 NP_056169 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 1168 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|kidney(1)|breast(1) 7 TATCCTCCTCCGGCAGTGGAA 0.567 NaN 0 0 0 0.028581 0 14 90 MAMDC4 158056 broad.mit.edu 37 9 139754396 139754396 + Silent SNP C C G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr9:139754396C>G uc004cjs.2 + 26 3302 c.3252C>G c.(3250-3252)CTC>CTG p.L1084L MAMDC4_uc011mej.1_Silent_p.L421L NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 1163 Helical; (Potential). protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) TCCTATTGCTCATGCTCCTGG 0.647 NaN 0 0 0 0.006122 0 16 32 TLR7 51284 broad.mit.edu 37 X 12906301 12906301 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:12906301G>C uc004cvc.2 + 3 2813 c.2674G>C c.(2674-2676)GAT>CAT p.D892H NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 892 TIR.|Cytoplasmic (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) CTGTTGCTATGATGCTTTTAT 0.433 NaN 0 0 0 0.00632 0 29 187 GLRA2 2742 broad.mit.edu 37 X 14550396 14550396 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:14550396G>C uc010nep.2 + 3 436 c.104G>C c.(103-105)GGA>GCA p.G35A GLRA2_uc010neq.2_Missense_Mutation_p.G35A|GLRA2_uc004cwe.3_Missense_Mutation_p.G35A|GLRA2_uc011mio.1_5'UTR|GLRA2_uc011mip.1_Missense_Mutation_p.G13A NM_001118885 NP_001112357 P23416 GLRA2_HUMAN glycine receptor, alpha 2 isoform A 35 Extracellular (Probable). neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(1)|lung(1) 2 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) TCCAGGTCTGGAAAACAACCT 0.413 NaN 0 0 0 0.010504 0 21 78 PHEX 5251 broad.mit.edu 37 X 22094533 22094533 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:22094533G>C uc004dah.2 + 4 580 c.377G>C c.(376-378)AGG>ACG p.R126T PHEX_uc011mjr.1_Missense_Mutation_p.R126T|PHEX_uc011mjs.1_Missense_Mutation_p.R29T NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 126 Extracellular (Potential). biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 ATCAGTAGAAGGCGGGACACC 0.383 NaN 0 0 0 0.021553 0 5 35 DGKK 139189 broad.mit.edu 37 X 50117981 50117981 + Missense_Mutation SNP C C T TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:50117981C>T uc010njr.1 - 26 3550 c.3490G>A c.(3490-3492)GAT>AAT p.D1164N NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN diacylglycerol kinase kappa 1164 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1) 2 Ovarian(276;0.236) AGCTTTTCATCCAGGAAAGCT 0.473 NaN 0 0 0 0.014758 0 5 26 FGD1 2245 broad.mit.edu 37 X 54496484 54496484 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:54496484G>A uc004dtg.2 - 4 1800 c.1066C>T c.(1066-1068)CCA>TCA p.P356S FGD1_uc011moi.1_Missense_Mutation_p.P114S NM_004463 NP_004454 P98174 FGD1_HUMAN faciogenital dysplasia protein 356 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|skin(2)|central_nervous_system(1) 6 AGGGGCACTGGGATTTCTCTG 0.478 NaN 0 0 0 0.004482 0 9 33 TRPC5 7224 broad.mit.edu 37 X 111019559 111019559 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:111019559T>C uc004epl.1 - 11 3823 c.2904A>G c.(2902-2904)CAA>CAG p.Q968Q NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 968 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GAGTTGTAACTTGTTCTTCCT 0.423 NaN 0 0 0 0.014758 0 5 62 DOCK11 139818 broad.mit.edu 37 X 117814457 117814457 + Missense_Mutation SNP G G A TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:117814457G>A uc004eqp.2 + 49 5536 c.5473G>A c.(5473-5475)GAG>AAG p.E1825K DOCK11_uc004eqq.2_Missense_Mutation_p.E1604K NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1825 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 AAATGCCAAAGAGCTTGATCC 0.289 NaN 0 0 0 0.016723 0 13 66 CDR1 1038 broad.mit.edu 37 X 139866027 139866027 + Missense_Mutation SNP G G C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:139866027G>C uc004fbg.1 - 1 697 c.505C>G c.(505-507)CGT>GGT p.R169G uc004fbf.1_RNA NM_004065 NP_004056 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 169 5.|6 X 6 AA approximate repeats. 0 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) GAAAATCCACGTCTTCCCAAC 0.423 NaN 0 0 0 0.01441 0 63 266 MAGEA8 4107 broad.mit.edu 37 X 149013352 149013352 + Silent SNP T T C TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chrX:149013352T>C uc004fdw.1 + 3 521 c.306T>C c.(304-306)GCT>GCC p.A102A NM_005364 NP_005355 P43361 MAGA8_HUMAN melanoma antigen family A, 8 102 0 Acute lymphoblastic leukemia(192;6.56e-05) CGGACCCAGCTCACCTGGAGT 0.557 NaN 0 0 0 0.007291 0 30 145 KLF5 688 broad.mit.edu 37 13 73636680 73636683 + Frame_Shift_Del DEL CAAG CAAG - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 CAAG - CAAG CAAG Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr13:73636680_73636683delCAAG uc001vje.2 + 2 1267_1270 c.943_946delCAAG c.(943-948)CAAGCAfs p.Q315fs KLF5_uc001vjd.2_Frame_Shift_Del_p.Q224fs NM_001730 NP_001721 Q13887 KLF5_HUMAN Kruppel-like factor 5 315_316 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1)|pancreas(1) 3 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) TCCAGATAGACAAGCAGAGATGCT 0.495 NaN NaN NaN NaN NaN NaN 19 142 --- --- OR4M1 441670 broad.mit.edu 37 14 20248931 20248931 + Frame_Shift_Del DEL G G - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:20248931delG uc010tku.1 + 1 450 c.450delG c.(448-450)ATGfs p.M150fs NM_001005500 NP_001005500 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, 150 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTCCTGGATGGGGGGCTTCA 0.502 NaN NaN NaN NaN NaN NaN 7 582 --- --- ZFP36L1 677 broad.mit.edu 37 14 69256630 69256631 + Frame_Shift_Ins INS - - G TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 - G - - Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr14:69256630_69256631insG uc001xkh.1 - 2 766_767 c.636_637insC c.(634-639)GCCACCfs p.A212fs ZFP36L1_uc001xki.1_Frame_Shift_Ins_p.A212fs NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 212_213 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) gcagcggcggtggcagcggcAC 0.589 NaN OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 30 140 --- --- FBN1 2200 broad.mit.edu 37 15 48826273 48826286 + Splice_Site DEL TTACCTTCACATTT TTACCTTCACATTT - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr15:48826273_48826286delTTACCTTCACATTT uc001zwx.1 - 8 1190 c.862_splice c.e8+1 p.D288_splice NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) ATAAGATTTCTTACCTTCACATTTTTGTGACACT 0.435 NaN NaN NaN NaN NaN NaN 11 586 --- --- HCFC1R1 54985 broad.mit.edu 37 16 3073515 3073517 + In_Frame_Del DEL CTC CTC - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr16:3073515_3073517delCTC uc002csx.1 - 3 243_245 c.110_112delGAG c.(109-114)GGAGCT>GCT p.G37del HCFC1R1_uc002csy.1_In_Frame_Del_p.G37del|HCFC1R1_uc002csz.1_Intron|THOC6_uc002ctb.2_5'Flank|THOC6_uc002ctd.2_5'Flank|THOC6_uc002ctc.2_5'Flank|THOC6_uc002cta.2_5'Flank NM_001002018 NP_001002018 Q9NWW0 HPIP_HUMAN host cell factor C1 regulator 1 (XPO1 dependant) 37 cytoplasm|nucleus 0 ATGGGCACAGCTCCTCGGAGAGG 0.626 NaN NaN NaN NaN NaN NaN 9 43 --- --- PCDHGB4 8641 broad.mit.edu 37 5 140767492 140767497 + In_Frame_Del DEL TGCCAG TGCCAG - TCGA-GC-A3WC-01A-31D-A22Z-08 TCGA-GC-A3WC-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4892732c-1a8e-4481-b69a-0485ad5c80af 8128a926-0322-4102-b121-bfd6e641e3bb g.chr5:140767492_140767497delTGCCAG uc003lkc.1 + 1 41_46 c.41_46delTGCCAG c.(40-48)CTGCCAGTG>CTG p.PV15del 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_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc011dav.1_In_Frame_Del_p.PV15del NM_003736 NP_003727 Q9UN71 PCDGG_HUMAN protocadherin gamma subfamily B, 4 isoform 1 15_16 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCTGAGAGGCTGCCAGTGCTCTTTCT 0.617 NaN OREG0016859 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) NaN NaN NaN NaN NaN 5 3 --- ---