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 t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox isArtifactMode oxoGCut HTR1D 3352 broad.mit.edu 37 1 23520575 23520575 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:23520575G>A uc001bgn.2 - 1 648 c.138C>T c.(136-138)TCC>TCT p.S46S NM_000864 NP_000855 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D 46 Helical; Name=1; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity 0 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) GTGTGATGACGGAAAGGACCA 0.572 NA 91 101 0 0 0 0 S100PBP 64766 broad.mit.edu 37 1 33295639 33295639 + Missense_Mutation SNP A A C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:33295639A>C uc001bvz.2 + 5 1272 c.995A>C c.(994-996)CAT>CCT p.H332P S100PBP_uc001bwa.1_Missense_Mutation_p.H331P|S100PBP_uc001bwb.1_Missense_Mutation_p.H332P|S100PBP_uc001bwc.2_Missense_Mutation_p.H332P|S100PBP_uc001bwd.2_RNA NM_022753 NP_073590 Q96BU1 S1PBP_HUMAN S100P binding protein isoform a 332 nucleus calcium-dependent protein binding 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) GTCATTGCTCATATAGAAGAC 0.403 NA 29 140 0 0 0 0 WLS 79971 broad.mit.edu 37 1 68613869 68613869 + Missense_Mutation SNP T T G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:68613869T>G uc001def.1 - 8 1355 c.1084A>C c.(1084-1086)ACG>CCG p.T362P uc001deb.1_Intron|uc001dec.1_Intron|WLS_uc001dee.2_Missense_Mutation_p.T360P|WLS_uc001deg.1_Missense_Mutation_p.T271P|WLS_uc009wbf.1_Missense_Mutation_p.T317P NM_024911 NP_079187 Q5T9L3 WLS_HUMAN G protein-coupled receptor 177 isoform 1 362 Lumenal (Potential). multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway cytoplasmic vesicle membrane|Golgi membrane|integral to membrane signal transducer activity 0 AAGGGATTCGTGAGTTGTACC 0.443 NA 21 183 0 0 0 0 CTH 1491 broad.mit.edu 37 1 70881666 70881666 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:70881666C>G uc001dfd.2 + 2 340 c.196C>G c.(196-198)CCC>GCC p.P66A CTH_uc009wbl.1_RNA|CTH_uc001dfe.2_Missense_Mutation_p.P66A|CTH_uc010oqq.1_Missense_Mutation_p.P66A NM_001902 NP_001893 P32929 CGL_HUMAN cystathionase isoform 1 66 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding lung(1) 1 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TTCTGGAAATCCCACTAGGAA 0.358 NA 15 95 0 0 0 0 CCBL2 56267 broad.mit.edu 37 1 89427140 89427140 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:89427140G>C uc001dmp.2 - 7 967 c.590C>G c.(589-591)CCT>CGT p.P197R CCBL2_uc001dmq.2_Missense_Mutation_p.P163R|CCBL2_uc001dmr.2_Missense_Mutation_p.P33R NM_001008661 NP_001008661 Q6YP21 KAT3_HUMAN kynurenine aminotransferase III isoform 1 197 biosynthetic process|kynurenine metabolic process|tryptophan catabolic process cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding ovary(1) 1 Lung NSC(277;0.123) all cancers(265;0.0117)|Epithelial(280;0.0341) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) CAGTTCTTGAGGATCTAATGT 0.323 NA 40 209 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152281203 152281203 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:152281203G>C uc001ezu.1 - 3 6195 c.6159C>G c.(6157-6159)GAC>GAG p.D2053E NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2053 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGTGTCTGAGTCTTCTGAAT 0.562 NA Ichthyosis 17 798 0 0 0 0 FLG 2312 broad.mit.edu 37 1 152281224 152281224 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:152281224G>A uc001ezu.1 - 3 6174 c.6138C>T c.(6136-6138)GAC>GAT p.D2046D NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 2046 Ser-rich.|Filaggrin 12. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCCTCACTGTCACTGGCCT 0.562 NA Ichthyosis 21 833 0 0 0 0 NAV1 89796 broad.mit.edu 37 1 201751710 201751710 + Silent SNP A A T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr1:201751710A>T uc001gwu.2 + 6 2417 c.2070A>T c.(2068-2070)GGA>GGT p.G690G NAV1_uc001gwv.1_Silent_p.G198G|NAV1_uc001gww.1_Silent_p.G299G|NAV1_uc001gwx.2_Silent_p.G299G|NAV1_uc001gwy.1_Silent_p.G71G NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN neuron navigator 1 690 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(3)|ovary(1) 4 GGCGGGGTGGACCTCGCCCTG 0.627 NA 47 44 0 0 0 0 SVIL 6840 broad.mit.edu 37 10 29821795 29821795 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:29821795G>C uc001iut.1 - 8 2254 c.1501C>G c.(1501-1503)CAA>GAA p.Q501E SVIL_uc001iuu.1_Intron|SVIL_uc009xld.1_Missense_Mutation_p.Q501E NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 501 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) TGCGGAGCTTGAGGGGGTTGT 0.532 NA 29 121 0 0 0 0 NRG3 10718 broad.mit.edu 37 10 83635638 83635638 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:83635638C>A uc001kco.2 + 1 569 c.542C>A c.(541-543)TCC>TAC p.S181Y NRG3_uc010qlz.1_Missense_Mutation_p.S181Y|NRG3_uc001kcp.2_5'Flank|NRG3_uc001kcq.2_5'Flank NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 181 Ser/Thr-rich.|Extracellular (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) AGCCCGCGCTCCACCACAGCA 0.721 NA 10 34 3.86e-05 4.31e-05 1 0 MYOF 26509 broad.mit.edu 37 10 95111312 95111312 + Nonsense_Mutation SNP A A T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:95111312A>T uc001kin.2 - 34 3803 c.3680T>A c.(3679-3681)TTA>TAA p.L1227* MYOF_uc001kio.2_Nonsense_Mutation_p.L1214*|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1227 Cytoplasmic (Potential).|C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GCTTCGTCCTAAAAATTCATC 0.413 NA 41 148 0 0 0 0 MYOF 26509 broad.mit.edu 37 10 95111315 95111315 + Missense_Mutation SNP A A T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:95111315A>T uc001kin.2 - 34 3800 c.3677T>A c.(3676-3678)TTT>TAT p.F1226Y MYOF_uc001kio.2_Missense_Mutation_p.F1213Y|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1226 Cytoplasmic (Potential).|C2 4. blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 TCGTCCTAAAAATTCATCTTT 0.413 NA 40 152 0 0 0 0 COX15 1355 broad.mit.edu 37 10 101480789 101480789 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:101480789A>G uc001kqb.3 - 6 1404 c.787T>C c.(787-789)TTT>CTT p.F263L COX15_uc001kqc.3_Missense_Mutation_p.F263L|COX15_uc010qpj.1_Missense_Mutation_p.F84L NM_078470 NP_510870 Q7KZN9 COX15_HUMAN COX15 homolog isoform 1 263 heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial respiratory chain cytochrome-c oxidase activity ovary(1) 1 Colorectal(252;0.234) Epithelial(162;3.08e-10)|all cancers(201;2.43e-08) CCATGAGCAAATCGTCTCAAC 0.453 NA 9 41 0 0 0 0 FAM160B1 57700 broad.mit.edu 37 10 116605950 116605950 + Missense_Mutation SNP C C T rs17853717 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:116605950C>T uc001lcb.2 + 10 1557 c.1222C>T c.(1222-1224)CTC>TTC p.L408F FAM160B1_uc001lcc.2_Missense_Mutation_p.L408F NM_020940 NP_065991 Q5W0V3 F16B1_HUMAN hypothetical protein LOC57700 isoform a 408 lung(1) 1 GATGGGTATTCTCACATCCAC 0.433 NA 7 420 0 0 0 0 ATRNL1 26033 broad.mit.edu 37 10 117061476 117061476 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:117061476G>A uc001lcg.2 + 17 3127 c.2741G>A c.(2740-2742)CGA>CAA p.R914Q ATRNL1_uc010qsm.1_Missense_Mutation_p.R89Q|ATRNL1_uc010qsn.1_RNA NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 914 PSI 4.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) AGTACGAAACGATGTGTTGAC 0.453 NA 29 163 0 0 0 0 ADAM8 101 broad.mit.edu 37 10 135083954 135083954 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr10:135083954G>C uc010qva.1 - 15 1629 c.1578C>G c.(1576-1578)ATC>ATG p.I526M ADAM8_uc010quz.1_Missense_Mutation_p.I565M|ADAM8_uc009ybi.2_Missense_Mutation_p.I565M P78325 ADAM8_HUMAN SubName: Full=cDNA FLJ50704, highly similar to ADAM 8 (EC 3.4.24.-) (A disintegrinand metalloproteinase domain 8); 526 integrin-mediated signaling pathway|proteolysis metalloendopeptidase activity large_intestine(2)|central_nervous_system(1) 3 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05) CCACGATGCAGATGGCACGCC 0.652 NA 19 65 0 0 0 0 EPS8L2 64787 broad.mit.edu 37 11 720157 720157 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr11:720157C>G uc001lqt.2 + 5 508 c.261C>G c.(259-261)ATC>ATG p.I87M EPS8L2_uc010qwj.1_Missense_Mutation_p.I87M|EPS8L2_uc001lqu.2_Missense_Mutation_p.I87M|EPS8L2_uc010qwk.1_Missense_Mutation_p.I87M|EPS8L2_uc001lqv.2_Missense_Mutation_p.I42M|EPS8L2_uc001lqw.2_5'Flank|EPS8L2_uc001lqx.2_5'Flank NM_022772 NP_073609 Q9H6S3 ES8L2_HUMAN epidermal growth factor receptor pathway 87 PID. cytoplasm pancreas(1) 1 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGGAGAAGATCTGGACCCAGG 0.627 NA 9 38 0 0 0 0 RHOG 391 broad.mit.edu 37 11 3848803 3848803 + Missense_Mutation SNP A A C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr11:3848803A>C uc001lyu.2 - 2 724 c.566T>G c.(565-567)ATC>AGC p.I189S NM_001665 NP_001656 P84095 RHOG_HUMAN ras homolog gene family, member G precursor 189 actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTP binding|GTPase activity|protein binding 0 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194) TCACAAGAGGATGCAGGACCG 0.627 NA 7 30 0 0 0 0 FAM111B 374393 broad.mit.edu 37 11 58892771 58892771 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr11:58892771C>G uc001nnl.2 + 4 1444 c.1201C>G c.(1201-1203)CAG>GAG p.Q401E FAM111B_uc001nnm.2_Missense_Mutation_p.Q371E|FAM111B_uc010rko.1_Missense_Mutation_p.Q371E NM_198947 NP_945185 Q6SJ93 F111B_HUMAN hypothetical protein LOC374393 isoform a 401 catalytic activity ovary(2) 2 CATAATGCATCAGTATCCGAA 0.378 NA 48 113 0 0 0 0 DAGLA 747 broad.mit.edu 37 11 61503242 61503242 + Missense_Mutation SNP A A T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr11:61503242A>T uc001nsa.2 + 12 1355 c.1244A>T c.(1243-1245)GAG>GTG p.E415V NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 415 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) GGTGATGCTGAGCGCCTCCCC 0.672 NA 6 13 0 0 0 0 FAT3 120114 broad.mit.edu 37 11 92531604 92531605 + Missense_Mutation DNP GC GC AA TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr11:92531604_92531605GC>AA uc001pdj.3 + 9 5442_5443 c.5425_5426GC>AA c.(5425-5427)GCT>AAT p.A1809N NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1809 Cadherin 16.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) CAACCGGAATGCTCTGCTTGTG 0.485 NA TCGA Ovarian(4;0.039) 5 20 0 0 0 0 A2M 2 broad.mit.edu 37 12 9222346 9222346 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:9222346C>T uc001qvk.1 - 33 4371 c.4258G>A c.(4258-4260)GAT>AAT p.D1420N A2M_uc001qvj.1_Missense_Mutation_p.D462N|A2M_uc009zgk.1_Missense_Mutation_p.D1270N NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1420 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) CTTACCTTATCAAGGTAAATC 0.353 NA 40 160 0 0 0 0 ADCY6 112 broad.mit.edu 37 12 49176910 49176910 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:49176910G>A uc001rsh.3 - 1 968 c.308C>T c.(307-309)ACG>ATG p.T103M ADCY6_uc001rsj.3_Missense_Mutation_p.T103M|ADCY6_uc001rsi.3_Missense_Mutation_p.T103M NM_015270 NP_056085 O43306 ADCY6_HUMAN adenylate cyclase 6 isoform a 103 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding 0 CACCTCAGCCGTCCCGCCCGC 0.697 NA 16 59 0 0 0 0 MLL2 8085 broad.mit.edu 37 12 49434105 49434105 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:49434105G>C uc001rta.3 - 31 7448 c.7448C>G c.(7447-7449)TCT>TGT p.S2483C NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 2483 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 GTGGGCTAGAGACCCAGCCTT 0.667 NA N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 8 67 0 0 0 0 MYF5 4617 broad.mit.edu 37 12 81111152 81111152 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:81111152G>A uc001szg.2 + 1 445 c.310G>A c.(310-312)GAA>AAA p.E104K NM_005593 NP_005584 P13349 MYF5_HUMAN myogenic factor 5 104 Helix-loop-helix motif. muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity ovary(1) 1 CCAGGCTTTCGAAACCCTCAA 0.597 NA 25 77 0 0 0 0 PPFIA2 8499 broad.mit.edu 37 12 81693145 81693145 + Nonsense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:81693145C>A uc001szo.1 - 23 2820 c.2659G>T c.(2659-2661)GAA>TAA p.E887* PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 813 ovary(3)|lung(2)|pancreas(1) 6 CTCCGAGCTTCTTCAAGAAGT 0.378 NA 3 13 0.004672 0.00490017 1 0 ATP2B1 490 broad.mit.edu 37 12 89995159 89995159 + Missense_Mutation SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:89995159T>A uc001tbh.2 - 18 3293 c.3112A>T c.(3112-3114)ATA>TTA p.I1038L ATP2B1_uc001tbg.2_Missense_Mutation_p.I1038L|ATP2B1_uc009zsr.2_5'Flank|ATP2B1_uc001tbf.2_Intron NM_001682 NP_001673 P20020 AT2B1_HUMAN plasma membrane calcium ATPase 1 isoform 1b 1038 Helical; (Potential). ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding ovary(2)|central_nervous_system(1) 3 CACTGTTCTATTGAAAGTTCT 0.299 NA 60 196 0 0 0 0 PRKAB1 5564 broad.mit.edu 37 12 120111774 120111774 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:120111774A>G uc009zwu.2 + 4 432 c.329A>G c.(328-330)AAT>AGT p.N110S PRKAB1_uc001txg.2_Missense_Mutation_p.N110S NM_006253 NP_006244 Q9Y478 AAKB1_HUMAN AMP-activated protein kinase beta 1 110 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol 0 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.166) Adenosine monophosphate(DB00131)|Metformin(DB00331) TGCAGCCACAATAACTTTGTA 0.522 NA 33 113 0 0 0 0 CAMKK2 10645 broad.mit.edu 37 12 121686456 121686456 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr12:121686456C>G uc001tzu.2 - 14 1529 c.1405G>C c.(1405-1407)GAG>CAG p.E469Q CAMKK2_uc001tzt.2_Missense_Mutation_p.E469Q|CAMKK2_uc001tzv.2_Missense_Mutation_p.E469Q|CAMKK2_uc001tzw.2_Intron|CAMKK2_uc001tzx.2_Missense_Mutation_p.E469Q|CAMKK2_uc001tzy.2_Intron|CAMKK2_uc001tzz.1_Missense_Mutation_p.E256Q|CAMKK2_uc001uaa.1_Missense_Mutation_p.E469Q|CAMKK2_uc001uab.2_Missense_Mutation_p.E469Q|CAMKK2_uc001uac.2_Intron NM_006549 NP_006540 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase 469 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity lung(1)|large_intestine(1)|stomach(1) 3 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCGACCTCCTCTTCAGTCACT 0.612 NA 34 204 0 0 0 0 MTUS2 23281 broad.mit.edu 37 13 29599467 29599467 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr13:29599467G>T uc001usl.3 + 1 720 c.662G>T c.(661-663)GGG>GTG p.G221V NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 211 cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 CAGATACCTGGGGGTGGGGAG 0.607 NA 9 34 6.4e-05 7.08e-05 1 0 TRPC4 7223 broad.mit.edu 37 13 38320380 38320380 + Silent SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr13:38320380G>C uc001uws.2 - 3 826 c.591C>G c.(589-591)CTC>CTG p.L197L TRPC4_uc010abv.2_5'UTR|TRPC4_uc001uwt.2_Silent_p.L197L|TRPC4_uc010tey.1_Silent_p.L197L|TRPC4_uc010abw.2_Intron|TRPC4_uc010abx.2_Silent_p.L197L|TRPC4_uc010aby.2_Silent_p.L197L NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 197 Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TGTAGATGTTGAGTCTGGAGC 0.527 NA 26 76 0 0 0 0 SLAIN1 122060 broad.mit.edu 37 13 78320898 78320898 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr13:78320898C>T uc010thy.1 + 4 717 c.674C>T c.(673-675)TCC>TTC p.S225F SLAIN1_uc001vkk.1_Missense_Mutation_p.S148F|SLAIN1_uc001vkl.1_Missense_Mutation_p.S104F|SLAIN1_uc010thz.1_Missense_Mutation_p.S103F|SLAIN1_uc010aex.1_Intron|SLAIN1_uc010aey.1_Intron|SLAIN1_uc001vkm.2_Missense_Mutation_p.S104F NM_144595 NP_653196 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 B 367 ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) AGCCCCAGTTCCCAGTATTTT 0.478 NA 54 97 0 0 0 0 OR4N2 390429 broad.mit.edu 37 14 20296147 20296147 + Missense_Mutation SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr14:20296147T>A uc010tkv.1 + 1 540 c.540T>A c.(538-540)GAT>GAA p.D180E NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, 180 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCTTCTGTGATGTCCCACAGG 0.542 NA 84 135 0 0 0 0 HOMEZ 57594 broad.mit.edu 37 14 23746104 23746104 + Silent SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr14:23746104A>G uc001wja.2 - 2 481 c.333T>C c.(331-333)GGT>GGC p.G111G HOMEZ_uc001wjb.2_Silent_p.G113G NM_020834 NP_065885 Q8IX15 HOMEZ_HUMAN homeodomain leucine zipper protein 111 Homeobox 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) ACCAGCTAATACCACAGCGGA 0.498 NA 6 244 0 0 0 0 RBM25 58517 broad.mit.edu 37 14 73566382 73566382 + Missense_Mutation SNP T T G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr14:73566382T>G uc001xno.2 + 9 999 c.791T>G c.(790-792)ATA>AGA p.I264R RBM25_uc001xnn.3_Missense_Mutation_p.I264R|RBM25_uc010ttu.1_Missense_Mutation_p.I264R|RBM25_uc001xnp.2_Missense_Mutation_p.I59R NM_021239 NP_067062 P49756 RBM25_HUMAN RNA binding motif protein 25 264 apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing cytoplasm|nuclear speck mRNA binding|nucleotide binding|protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688) TAGGAGGATATAAATGCTATA 0.358 NA 22 156 0 0 0 0 HEATR4 399671 broad.mit.edu 37 14 73973233 73973234 + Nonsense_Mutation DNP GA GA TT TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr14:73973233_73973234GA>TT uc010tub.1 - 10 2245_2246 c.1923_1924TC>AA c.(1921-1926)TGTCAA>TGAAAA p.641_642CQ>*K HEATR4_uc010tua.1_Nonsense_Mutation_p.594_595CQ>*K NM_203309 NP_976054 HEAT repeat containing 4 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) TTCTTCCATTGACAGCTGTTCA 0.465 NA 33 169 0 0 0 0 NEK9 91754 broad.mit.edu 37 14 75562095 75562095 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr14:75562095C>T uc001xrl.2 - 18 2367 c.2213G>A c.(2212-2214)AGT>AAT p.S738N NEK9_uc001xrk.2_Missense_Mutation_p.S238N NM_033116 NP_149107 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 738 Interaction with NEK6. cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity lung(2)|stomach(2)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(234;0.00718) GGATAAGCCACTGCTATTGGA 0.388 NA 7 105 0 0 0 0 CYP46A1 10858 broad.mit.edu 37 14 100187605 100187605 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr14:100187605G>A uc001ygo.2 + 11 1010 c.1010G>A c.(1009-1011)GGT>GAT p.G337D CYP46A1_uc001ygp.2_Missense_Mutation_p.G184D NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46 337 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity 0 Melanoma(154;0.0866)|all_epithelial(191;0.179) GAGGTCATTGGTTCTAAGAGG 0.547 NA 16 75 0 0 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42113097 42113097 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr15:42113097G>A uc001zok.3 + 24 2853 c.2567G>A c.(2566-2568)CGC>CAC p.R856H MAPKBP1_uc001zoj.3_Missense_Mutation_p.R850H|MAPKBP1_uc010bcj.2_Missense_Mutation_p.R357H|MAPKBP1_uc010bci.2_Missense_Mutation_p.R850H|MAPKBP1_uc010udb.1_Missense_Mutation_p.R689H|MAPKBP1_uc010bck.2_Missense_Mutation_p.R67H|MAPKBP1_uc010bcl.2_Missense_Mutation_p.R357H NM_001128608 NP_001122080 O60336 MABP1_HUMAN mitogen-activated protein kinase binding protein 856 central_nervous_system(5)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 10 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) AGAAGAGGGCGCTGGGTTCAG 0.637 NA 13 52 0 0 0 0 C15orf33 196951 broad.mit.edu 37 15 49882141 49882141 + Missense_Mutation SNP T T C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr15:49882141T>C uc001zxl.2 - 4 463 c.169A>G c.(169-171)ATA>GTA p.I57V C15orf33_uc001zxm.2_Missense_Mutation_p.I57V NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 57 I -> M (in Ref. 1; BAB71451). ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) TCTTCTTTTATTTTTTTCAGA 0.318 NA 26 129 0 0 0 0 CILP 8483 broad.mit.edu 37 15 65494259 65494259 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr15:65494259C>G uc002aon.2 - 8 1318 c.1137G>C c.(1135-1137)CAG>CAC p.Q379H NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 379 Ig-like C2-type. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 CAGCATCACTCTGGGCCTTGC 0.572 NA 11 46 0 0 0 0 SEPT12 124404 broad.mit.edu 37 16 4835848 4835848 + Missense_Mutation SNP C C G rs141666105 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr16:4835848C>G uc002cxq.2 - 4 475 c.334G>C c.(334-336)GAC>CAC p.D112H SEPT12_uc002cxr.2_Missense_Mutation_p.D112H|SEPT12_uc010bty.2_RNA|uc002cxt.2_5'Flank NM_144605 NP_653206 Q8IYM1 SEP12_HUMAN septin 12 isoform 2 112 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity p.D112N(1) skin(1) 1 CCGGGCGTGTCCGTCACCGTC 0.363 NA 24 88 0 0 0 0 SMG1 23049 broad.mit.edu 37 16 18852958 18852958 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr16:18852958C>A uc002dfm.2 - 41 6988 c.6625G>T c.(6625-6627)GAT>TAT p.D2209Y SMG1_uc010bwb.2_Missense_Mutation_p.D2069Y|SMG1_uc010bwa.2_Missense_Mutation_p.D940Y|SMG1_uc002dfo.3_Missense_Mutation_p.D507Y NM_015092 NP_055907 Q96Q15 SMG1_HUMAN PI-3-kinase-related kinase SMG-1 2209 PI3K/PI4K. DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(5)|stomach(4)|lung(4)|kidney(2)|ovary(1) 16 GTGGCTCCATCTACCCACTGG 0.433 NA 47 171 4.01e-20 4.79e-20 1 0 CETP 1071 broad.mit.edu 37 16 56996954 56996954 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr16:56996954G>T uc002eki.2 + 2 208 c.151G>T c.(151-153)GCC>TCC p.A51S CETP_uc002ekj.2_Missense_Mutation_p.A51S NM_000078 NP_000069 P11597 CETP_HUMAN cholesteryl ester transfer protein, plasma 51 cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling high-density lipoprotein particle|vesicle cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding central_nervous_system(1)|skin(1) 2 GATCCAGACCGCCTTCCAGCG 0.622 NA 12 67 1.36e-13 1.59e-13 1 0 ZFPM1 161882 broad.mit.edu 37 16 88598565 88598565 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr16:88598565C>T uc002fkv.2 + 7 901 c.868C>T c.(868-870)CGC>TGC p.R290C NM_153813 NP_722520 Q8IX07 FOG1_HUMAN zinc finger protein, multitype 1 290 C2H2-type 1. blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCCCAACGAGCGCGTCTGCCC 0.716 NA 7 46 0 0 0 0 CDH15 1013 broad.mit.edu 37 16 89254553 89254553 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr16:89254553C>T uc002fmt.2 + 7 915 c.838C>T c.(838-840)CGC>TGC p.R280C NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 280 Cadherin 3.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) GGATGTGGGACGCCTGGAAGT 0.647 NA 4 40 0 0 0 0 ANKRD11 29123 broad.mit.edu 37 16 89351208 89351208 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr16:89351208G>C uc002fmx.1 - 9 2203 c.1742C>G c.(1741-1743)TCT>TGT p.S581C ANKRD11_uc002fmy.1_Missense_Mutation_p.S581C|ANKRD11_uc002fnc.1_Missense_Mutation_p.S581C|ANKRD11_uc002fnb.1_Missense_Mutation_p.S538C NM_013275 NP_037407 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 581 Ser-rich. nucleus ovary(4)|large_intestine(1)|central_nervous_system(1) 6 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) GGAGCCCTCAGAGGAGTAGTC 0.547 NA 12 69 0 0 0 0 GAS7 8522 broad.mit.edu 37 17 9820581 9820581 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr17:9820581C>G uc002gmg.1 - 14 1556 c.1395G>C c.(1393-1395)AAG>AAC p.K465N GAS7_uc010vvc.1_Missense_Mutation_p.K279N|GAS7_uc002gmh.1_Missense_Mutation_p.K325N|GAS7_uc010vvd.1_Missense_Mutation_p.K417N|GAS7_uc002gmi.2_Missense_Mutation_p.K401N|GAS7_uc002gmj.1_Missense_Mutation_p.K405N|GAS7_uc010coh.1_Missense_Mutation_p.K405N NM_201433 NP_958839 O60861 GAS7_HUMAN growth arrest-specific 7 isoform c 465 cell cycle arrest cytoplasm sequence-specific DNA binding transcription factor activity lung(1)|pancreas(1) 2 TGTTGCCCGTCTTGTGCTCTC 0.627 NA T MLL AML* 17 68 0 0 0 0 TMIGD1 388364 broad.mit.edu 37 17 28645840 28645840 + Silent SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr17:28645840C>T uc002hfa.1 - 5 805 c.732G>A c.(730-732)AAG>AAA p.K244K TMIGD1_uc010csh.1_Intron NM_206832 NP_996663 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain 244 Cytoplasmic (Potential). integral to membrane 0 TCATTATTTTCTTTCTTCTAG 0.353 NA 28 104 0 0 0 0 ACCN1 40 broad.mit.edu 37 17 32483260 32483260 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr17:32483260G>A uc002hhu.2 - 1 566 c.292C>T c.(292-294)CGG>TGG p.R98W NM_001094 NP_001085 Q16515 ACCN1_HUMAN amiloride-sensitive cation channel 1, neuronal 98 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) CTGGAGAACCGGAAGCCATTC 0.582 NA 15 46 0 0 0 0 FAM134C 162427 broad.mit.edu 37 17 40761276 40761276 + Nonsense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr17:40761276G>A uc002ial.2 - 1 170 c.67C>T c.(67-69)CGA>TGA p.R23* TUBG1_uc002ian.2_5'Flank|FAM134C_uc010wgq.1_5'UTR|FAM134C_uc002iam.1_5'UTR|FAM134C_uc010cyk.1_Intron NM_178126 NP_835227 Q86VR2 F134C_HUMAN hypothetical protein LOC162427 23 integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.134) GACACATCTCGGCGGCCCCTG 0.711 NA 29 20 0 0 0 0 RGS9 8787 broad.mit.edu 37 17 63156694 63156694 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr17:63156694A>G uc002jfe.2 + 5 463 c.353A>G c.(352-354)GAT>GGT p.D118G RGS9_uc010dem.2_Missense_Mutation_p.D118G|RGS9_uc002jfd.2_Missense_Mutation_p.D118G|RGS9_uc002jff.2_RNA NM_003835 NP_003826 O75916 RGS9_HUMAN regulator of G-protein signaling 9 isoform 1 118 intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity ovary(2)|skin(2) 4 CCAGCTGAAGATACCGATTAC 0.463 NA 12 60 0 0 0 0 MC2R 4158 broad.mit.edu 37 18 13885247 13885247 + Missense_Mutation SNP A A T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr18:13885247A>T uc002ksp.1 - 2 448 c.271T>A c.(271-273)TAT>AAT p.Y91N NM_000529 NP_000520 Q01718 ACTHR_HUMAN melanocortin 2 receptor 91 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane corticotropin receptor activity|protein binding ovary(4)|skin(1) 5 Corticotropin(DB01285)|Cosyntropin(DB01284) GGCTTGAGATAGCCCATGTTT 0.458 NA 20 105 0 0 0 0 FBXO15 201456 broad.mit.edu 37 18 71797721 71797721 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr18:71797721C>T uc002lle.2 - 4 613 c.277G>A c.(277-279)GCA>ACA p.A93T FBXO15_uc002llf.2_Missense_Mutation_p.A169T NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 93 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) TCAGCTAGTGCGGCTTTTACA 0.418 NA 3 83 0 0 0 0 ARRDC2 27106 broad.mit.edu 37 19 18121139 18121139 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr19:18121139G>T uc002nhv.2 + 6 1127 c.984G>T c.(982-984)AGG>AGT p.R328S ARRDC2_uc002nhu.2_Missense_Mutation_p.R323S NM_015683 NP_056498 Q8TBH0 ARRD2_HUMAN arrestin domain containing 2 isoform 1 328 pancreas(1) 1 TGGACTGGAGGCTGGGGGCCT 0.647 NA 12 33 4.75e-09 5.4e-09 1 0 GPI 2821 broad.mit.edu 37 19 34859497 34859497 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr19:34859497G>T uc002nvg.1 + 4 395 c.292G>T c.(292-294)GTG>TTG p.V98L GPI_uc002nvf.2_Missense_Mutation_p.V137L|GPI_uc010xrv.1_Missense_Mutation_p.V137L|GPI_uc010xrw.1_Missense_Mutation_p.V98L|GPI_uc010edl.1_Missense_Mutation_p.V98L|GPI_uc002nvh.1_3'UTR NM_000175 NP_000166 P06744 G6PI_HUMAN glucose phosphate isomerase 98 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity ovary(1)|kidney(1) 2 Esophageal squamous(110;0.162) GGGTCGAGCCGTGCTGCACGT 0.597 NA 8 71 1.13e-05 1.26e-05 1 0 FFAR3 2865 broad.mit.edu 37 19 35850648 35850648 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr19:35850648G>A uc002nzd.2 + 2 931 c.856G>A c.(856-858)GAC>AAC p.D286N FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 286 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) GTTCCAAGCCGACTTTCATGA 0.597 NA 12 92 0 0 0 0 ZNF567 163081 broad.mit.edu 37 19 37210997 37210997 + Silent SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr19:37210997C>A uc010xtl.1 + 6 1593 c.1371C>A c.(1369-1371)TCC>TCA p.S457S ZNF567_uc002oeo.1_Silent_p.S457S|ZNF567_uc010xtk.1_Silent_p.S457S|ZNF567_uc002oep.3_Silent_p.S426S|ZNF567_uc002oeq.1_Silent_p.S426S NM_152603 NP_689816 Q8N184 ZN567_HUMAN zinc finger protein 567 457 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GTGGAAAGTCCTTCCGCCAGA 0.428 NA 38 73 3.39e-10 3.91e-10 1 0 MARK4 57787 broad.mit.edu 37 19 45768123 45768123 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr19:45768123G>A uc002pbb.1 + 6 452 c.447G>A c.(445-447)TCG>TCA p.S149S MARK4_uc002paz.1_Intron|MARK4_uc002pba.1_Silent_p.S149S|MARK4_uc002pbc.1_Silent_p.S15S Q96L34 MARK4_HUMAN RecName: Full=MAP/microtubule affinity-regulating kinase 4; EC=2.7.11.1; AltName: Full=MAP/microtubule affinity-regulating kinase-like 1; 149 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding central_nervous_system(2)|large_intestine(1) 3 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) ACCTCGTGTCGCATGGCCGCA 0.677 NA 13 147 0 0 0 0 APOB 338 broad.mit.edu 37 2 21228715 21228715 + Silent SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:21228715G>T uc002red.2 - 26 11153 c.11025C>A c.(11023-11025)ATC>ATA p.I3675I NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3675 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CTGGTAGGATGATATTTTTGA 0.458 NA 58 87 1.18e-23 1.41e-23 1 0 LTBP1 4052 broad.mit.edu 37 2 33500964 33500964 + Missense_Mutation SNP G G C rs142262862 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:33500964G>C uc002ros.2 + 18 2969 c.2969G>C c.(2968-2970)CGC>CCC p.R990P LTBP1_uc002rot.2_Missense_Mutation_p.R664P|LTBP1_uc002rou.2_Missense_Mutation_p.R663P|LTBP1_uc002rov.2_Missense_Mutation_p.R610P|LTBP1_uc010ymz.1_Missense_Mutation_p.R663P|LTBP1_uc010yna.1_Missense_Mutation_p.R610P NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 989 EGF-like 6; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) AGCGGGTACCGCATGACTCAG 0.572 NA 27 121 0 0 0 0 SLC8A1 6546 broad.mit.edu 37 2 40657152 40657152 + Missense_Mutation SNP A A C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:40657152A>C uc002rrx.2 - 1 293 c.269T>G c.(268-270)CTT>CGT p.L90R SLC8A1_uc002rry.2_Missense_Mutation_p.L90R|SLC8A1_uc002rrz.2_Missense_Mutation_p.L90R|SLC8A1_uc002rsa.2_Missense_Mutation_p.L90R|SLC8A1_uc002rsd.3_Missense_Mutation_p.L90R|SLC8A1_uc002rsb.1_Missense_Mutation_p.L90R|SLC8A1_uc010fan.1_Missense_Mutation_p.L90R|SLC8A1_uc002rsc.1_Missense_Mutation_p.L90R NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 90 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) AGAGACTCCAAGAAACATGTA 0.423 NA 88 115 0 0 0 0 UBXN4 23190 broad.mit.edu 37 2 136499550 136499550 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:136499550G>A uc002tur.2 + 1 362 c.51G>A c.(49-51)AGG>AGA p.R17R NM_014607 NP_055422 Q92575 UBXN4_HUMAN UBX domain containing 2 17 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding skin(2) 2 CGGCCAAAAGGAGCGGCGCGG 0.672 NA 6 22 0 0 0 0 GPD2 2820 broad.mit.edu 37 2 157426617 157426617 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:157426617G>C uc002tzf.3 + 12 1855 c.1495G>C c.(1495-1497)GCC>CCC p.A499P GPD2_uc010zch.1_Missense_Mutation_p.A272P|GPD2_uc002tzd.3_Missense_Mutation_p.A499P|GPD2_uc002tze.1_RNA NM_001083112 NP_001076581 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2, 499 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity ovary(1) 1 GCATCTTGCCGCCACCTATGG 0.458 NA 22 119 0 0 0 0 DPP4 1803 broad.mit.edu 37 2 162849867 162849867 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:162849867C>T uc002ubz.2 - 26 2788 c.2227G>A c.(2227-2229)GCT>ACT p.A743T DPP4_uc010fpb.2_Missense_Mutation_p.A419T NM_001935 NP_001926 P27487 DPP4_HUMAN dipeptidylpeptidase IV 743 Extracellular (Potential). cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity ovary(3) 3 Sitagliptin(DB01261) GTGCTGCTAGCTATTCCATGG 0.343 NA 47 193 0 0 0 0 ZDBF2 57683 broad.mit.edu 37 2 207170711 207170711 + Missense_Mutation SNP T T G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:207170711T>G uc002vbp.2 + 5 1709 c.1459T>G c.(1459-1461)TAT>GAT p.Y487D NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 487 nucleic acid binding|zinc ion binding ovary(3) 3 TGACCAAAGCTATGAATCTAG 0.383 NA 4 72 0 0 0 0 RBM44 375316 broad.mit.edu 37 2 238726675 238726675 + Silent SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:238726675C>G uc002vxi.3 + 3 1248 c.1116C>G c.(1114-1116)CTC>CTG p.L372L NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 371 nucleotide binding|RNA binding ovary(4) 4 Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266) AGACATTACTCCAACCCTGTA 0.353 NA 34 110 0 0 0 0 ZNF337 26152 broad.mit.edu 37 20 25656794 25656794 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr20:25656794G>A uc002wva.2 - 4 1652 c.1130C>T c.(1129-1131)GCG>GTG p.A377V uc002wuz.2_RNA|ZNF337_uc010ztg.1_Missense_Mutation_p.A345V|ZNF337_uc002wvb.2_Missense_Mutation_p.A377V|ZNF337_uc002wvc.2_Missense_Mutation_p.A377V NM_015655 NP_056470 Q9Y3M9 ZN337_HUMAN zinc finger protein 337 377 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTGCCTGCACGCAAAGGGCTT 0.512 NA 25 130 0 0 0 0 CBFA2T2 9139 broad.mit.edu 37 20 32212735 32212735 + Silent SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr20:32212735C>T uc002wzg.1 + 7 1422 c.885C>T c.(883-885)ACC>ACT p.T295T CBFA2T2_uc010zug.1_Silent_p.T69T|CBFA2T2_uc002wze.1_Silent_p.T286T|CBFA2T2_uc002wzf.1_RNA|CBFA2T2_uc002wzh.1_Silent_p.T266T|CBFA2T2_uc002wzi.1_RNA|CBFA2T2_uc002wzj.1_RNA NM_005093 NP_005084 O43439 MTG8R_HUMAN core-binding factor, runt domain, alpha subunit 295 nucleus protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding pancreas(1)|skin(1) 2 AGCATTACACCTTAGAGGATA 0.532 NA 45 80 0 0 0 0 RBL1 5933 broad.mit.edu 37 20 35717398 35717398 + Missense_Mutation SNP T T G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr20:35717398T>G uc002xgi.2 - 2 363 c.284A>C c.(283-285)AAA>ACA p.K95T RBL1_uc010zvt.1_RNA|RBL1_uc002xgj.1_Missense_Mutation_p.K95T|RBL1_uc010gfv.1_RNA NM_002895 NP_002886 P28749 RBL1_HUMAN retinoblastoma-like protein 1 isoform a 95 cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding lung(5)|skin(3)|ovary(2) 10 Myeloproliferative disorder(115;0.00878) TTACCTTAATTTAGCTGAACG 0.323 NA 65 106 0 0 0 0 RALGAPB 57148 broad.mit.edu 37 20 37144953 37144953 + Silent SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr20:37144953C>T uc002xiw.2 + 7 1248 c.991C>T c.(991-993)CTG>TTG p.L331L RALGAPB_uc010zvz.1_Silent_p.L331L|RALGAPB_uc002xix.2_Silent_p.L331L|RALGAPB_uc002xiy.1_Silent_p.L331L|RALGAPB_uc002xiz.2_Silent_p.L109L|RALGAPB_uc002xja.1_Silent_p.L58L NM_020336 NP_065069 Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit 331 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity pancreas(1)|skin(1) 2 CCTTAAACATCTGCCTCAAAT 0.413 NA 54 419 0 0 0 0 TP53RK 112858 broad.mit.edu 37 20 45315819 45315819 + Missense_Mutation SNP T T C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr20:45315819T>C uc002xsk.2 - 2 558 c.335A>G c.(334-336)TAT>TGT p.Y112C SLC13A3_uc002xsg.1_5'Flank|SLC13A3_uc010gho.1_5'Flank|TP53RK_uc002xsj.2_Missense_Mutation_p.I114V NM_033550 NP_291028 Q96S44 PRPK_HUMAN p53-related protein kinase 112 Protein kinase. lipopolysaccharide biosynthetic process membrane|nucleus ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity 0 Myeloproliferative disorder(115;0.0122) TTCTTCCATATATAAGCAGTT 0.403 NA 108 477 0 0 0 0 RUNX1 861 broad.mit.edu 37 21 36206846 36206846 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr21:36206846G>A uc002yuh.2 - 4 2163 c.585C>T c.(583-585)TCC>TCT p.S195S RUNX1_uc002yui.2_Intron|RUNX1_uc010gmu.2_Silent_p.S222S|RUNX1_uc010gmv.2_Silent_p.S222S|RUNX1_uc002yuj.3_Silent_p.S90S|RUNX1_uc002yuk.3_Silent_p.S222S|RUNX1_uc002yul.1_5'UTR|RUNX1_uc002yum.1_Intron|RUNX1_uc010gmw.1_Silent_p.S222S|RUNX1_uc002yuo.1_Silent_p.S195S NM_001001890 NP_001001890 Q01196 RUNX1_HUMAN runt-related transcription factor 1 isoform 195 Pro/Ser/Thr-rich. Missing: No DNA-binding. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus|nucleus ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding p.I195fs*19(1) haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1) 387 TGAGCCGCTCGGAAAAGGACA 0.517 NA T RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4 AML|preB- ALL|T-ALL Platelet_disorder_associated_with_Myeloid_Malignancies 25 126 0 0 0 0 TNRC6B 23112 broad.mit.edu 37 22 40719213 40719213 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr22:40719213G>A uc011aor.1 + 23 5681 c.5470G>A c.(5470-5472)GAC>AAC p.D1824N TNRC6B_uc003aym.2_Missense_Mutation_p.D1020N|TNRC6B_uc003ayn.3_Missense_Mutation_p.D1714N NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B isoform 1 1824 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding 0 ACTACCTGGTGACCTTCTGGG 0.502 NA 27 58 0 0 0 0 SLC4A7 9497 broad.mit.edu 37 3 27490193 27490193 + Nonsense_Mutation SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:27490193T>A uc003cdv.2 - 3 282 c.211A>T c.(211-213)AGA>TGA p.R71* SLC4A7_uc011awu.1_RNA|SLC4A7_uc011awv.1_RNA|SLC4A7_uc003cdu.3_Nonsense_Mutation_p.R76*|SLC4A7_uc011aww.1_Nonsense_Mutation_p.R80*|SLC4A7_uc011awx.1_Nonsense_Mutation_p.R80*|SLC4A7_uc011awy.1_Nonsense_Mutation_p.R76*|SLC4A7_uc011awz.1_RNA|SLC4A7_uc011axa.1_Nonsense_Mutation_p.R76*|SLC4A7_uc011axb.1_Nonsense_Mutation_p.R80*|SLC4A7_uc010hfm.2_Nonsense_Mutation_p.R76*|SLC4A7_uc003cdw.2_Nonsense_Mutation_p.R71* NM_003615 NP_003606 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate 71 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|central_nervous_system(1)|skin(1) 5 TTATCTTTTCTTCTCCGGTGG 0.408 NA 78 71 0 0 0 0 ABHD5 51099 broad.mit.edu 37 3 43756504 43756504 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:43756504G>A uc003cmx.2 + 5 837 c.727G>A c.(727-729)GAT>AAT p.D243N NM_016006 NP_057090 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 243 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity ovary(1) 1 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) GTTCGAAGACGATACTGTGAC 0.318 NA 31 101 0 0 0 0 ZNF167 55888 broad.mit.edu 37 3 44612216 44612216 + Silent SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:44612216C>G uc010hin.2 + 6 2002 c.1614C>G c.(1612-1614)CTC>CTG p.L538L ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Intron|ZNF167_uc003cnj.2_Silent_p.L538L|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 538 C2H2-type 6. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) ATAGAAATCTCATTGACCATC 0.448 NA 39 135 0 0 0 0 HESX1 8820 broad.mit.edu 37 3 57232884 57232884 + Missense_Mutation SNP G G A rs149663188 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:57232884G>A uc003din.3 - 2 588 c.254C>T c.(253-255)TCG>TTG p.S85L NM_003865 NP_003856 Q9UBX0 HESX1_HUMAN HESX homeobox 1 85 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0109)|Kidney(284;0.0126) TTCATATTTCGAAGCTCTTTC 0.418 NA 128 367 0 0 0 0 IFT57 55081 broad.mit.edu 37 3 107941068 107941068 + Silent SNP G G T rs150114125 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:107941068G>T uc003dwx.3 - 1 350 c.102C>A c.(100-102)CCC>CCA p.P34P NM_018010 NP_060480 Q9NWB7 IFT57_HUMAN estrogen-related receptor beta like 1 34 activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent cilium|microtubule basal body DNA binding|protein binding ovary(1)|skin(1)|pancreas(1) 3 OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246) AGGCCGCGCCGGGCCCCCGCT 0.637 NA 21 43 3.84e-06 4.32e-06 1 0 NR1I2 8856 broad.mit.edu 37 3 119533912 119533912 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:119533912C>T uc003edj.2 + 6 2720 c.881C>T c.(880-882)GCG>GTG p.A294V NR1I2_uc003edi.2_Missense_Mutation_p.A257V|NR1I2_uc003edk.2_Missense_Mutation_p.A333V|NR1I2_uc003edl.2_Missense_Mutation_p.A182V NM_003889 NP_003880 O75469 NR1I2_HUMAN nuclear receptor subfamily 1, group I, member 2 294 Ligand-binding. drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport nucleoplasm drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(114;0.175) Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163) GTGTTCAATGCGGAGACTGGA 0.597 NA 16 94 0 0 0 0 EEFSEC 60678 broad.mit.edu 37 3 128060189 128060189 + Silent SNP C C T rs114698998 byFrequency TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:128060189C>T uc003eki.2 + 5 938 c.900C>T c.(898-900)CGC>CGT p.R300R EEFSEC_uc003ekj.2_Silent_p.R245R NM_021937 NP_068756 P57772 SELB_HUMAN eukaryotic elongation factor, 300 cytoplasm|nucleus GTP binding|GTPase activity|translation elongation factor activity ovary(1) 1 TGCTGGAGCGCGGGTTGGTGT 0.592 NA 42 99 0 0 0 0 COL6A6 131873 broad.mit.edu 37 3 130292957 130292957 + Silent SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:130292957C>T uc010htl.2 + 7 3166 c.3135C>T c.(3133-3135)AGC>AGT p.S1045S NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1045 Nonhelical region.|VWFA 6. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 CCCAGTTTAGCGATACCTATC 0.418 NA 24 55 0 0 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A T rs121913279 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:178952085A>T uc003fjk.2 + 21 3297 c.3140A>T c.(3139-3141)CAT>CTT p.H1047L NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (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.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) 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) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 40 75 0 0 0 0 KLHL6 89857 broad.mit.edu 37 3 183210339 183210339 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:183210339G>A uc003flr.2 - 6 1565 c.1507C>T c.(1507-1509)CCC>TCC p.P503S KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_3'UTR|KLHL6_uc010hxk.1_RNA NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 503 Kelch 4. haematopoietic_and_lymphoid_tissue(2)|ovary(1) 3 all_cancers(143;9.2e-12)|Ovarian(172;0.0172) all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22) GCCTCCACGGGCATGGCCGCC 0.517 NA 4 146 0 0 0 0 CRYGS 1427 broad.mit.edu 37 3 186257359 186257359 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:186257359G>C uc003fqe.2 - 2 101 c.49C>G c.(49-51)CAA>GAA p.Q17E CRYGS_uc003fqf.2_Missense_Mutation_p.Q17E NM_017541 NP_060011 P22914 CRBS_HUMAN crystallin, gamma S 17 Beta/gamma crystallin 'Greek key' 1. structural constituent of eye lens 0 all_cancers(143;3.75e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.5e-22) GBM - Glioblastoma multiforme(93;0.0906) CGACGGCCTTGAAAATTTTTG 0.433 NA 23 99 0 0 0 0 CRMP1 1400 broad.mit.edu 37 4 5862807 5862807 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:5862807C>G uc003gip.2 - 4 360 c.259G>C c.(259-261)GAT>CAT p.D87H CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Missense_Mutation_p.D87H|CRMP1_uc003gir.2_Missense_Mutation_p.D82H|CRMP1_uc003gis.2_Missense_Mutation_p.D201H NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 87 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) AAGAAGTCATCAGCCGCAGTC 0.572 NA 30 68 0 0 0 0 UGDH 7358 broad.mit.edu 37 4 39523092 39523092 + Missense_Mutation SNP T T C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:39523092T>C uc003guk.1 - 2 357 c.41A>G c.(40-42)TAT>TGT p.Y14C UGDH_uc011byp.1_Intron|UGDH_uc003gul.1_Missense_Mutation_p.Y14C NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 14 NAD. glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) TCCTCCAACATAGCCTGCACC 0.373 NA 28 97 0 0 0 0 GRXCR1 389207 broad.mit.edu 37 4 42965026 42965026 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:42965026G>A uc003gwt.2 + 2 502 c.502G>A c.(502-504)GTA>ATA p.V168I NM_001080476 NP_001073945 A8MXD5 GRCR1_HUMAN glutaredoxin, cysteine rich 1 168 Glutaredoxin. cell redox homeostasis|inner ear receptor stereocilium organization|sensory perception of sound|vestibular receptor cell development kinocilium|stereocilium electron carrier activity|protein disulfide oxidoreductase activity ovary(1) 1 AAACCATCGCGTAAAATTTGA 0.428 NA 5 325 0 0 0 0 PROL1 58503 broad.mit.edu 37 4 71275443 71275443 + Missense_Mutation SNP T T C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:71275443T>C uc003hfi.2 + 3 572 c.398T>C c.(397-399)ATT>ACT p.I133T NM_021225 NP_067048 Q99935 PROL1_HUMAN proline rich, lacrimal 1 133 Pro-rich. regulation of sensory perception of pain extracellular region endopeptidase inhibitor activity large_intestine(1) 1 all_hematologic(202;0.196) TTTCTTGCTATTTACCTTCCT 0.443 NA 56 210 0 0 0 0 ANK2 287 broad.mit.edu 37 4 114294489 114294489 + Missense_Mutation SNP A A C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:114294489A>C uc003ibe.3 + 45 11843 c.11743A>C c.(11743-11745)AAA>CAA p.K3915Q ANK2_uc003ibd.3_Missense_Mutation_p.K1821Q|ANK2_uc003ibf.3_Missense_Mutation_p.K1830Q|ANK2_uc011cgc.1_Missense_Mutation_p.K1006Q|ANK2_uc003ibg.3_Missense_Mutation_p.K845Q|ANK2_uc003ibh.3_Missense_Mutation_p.K535Q|ANK2_uc011cgd.1_Missense_Mutation_p.K1217Q|ANK2_uc010imr.2_5'UTR|ANK2_uc010ims.2_5'UTR NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3882 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) AGGCACAGAGAAAGAAGAGAT 0.403 NA 57 88 0 0 0 0 TRAM1L1 133022 broad.mit.edu 37 4 118005580 118005580 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:118005580C>A uc003ibv.3 - 1 1157 c.970G>T c.(970-972)GTA>TTA p.V324L NM_152402 NP_689615 Q8N609 TR1L1_HUMAN translocation associated membrane protein 1-like 324 Cytoplasmic (Potential).|TLC. protein transport|transmembrane transport endoplasmic reticulum membrane|integral to membrane central_nervous_system(1) 1 GAATCTTCTACCCACCTCTGA 0.408 NA 135 198 1.86e-60 2.25e-60 1 0 DCHS2 54798 broad.mit.edu 37 4 155156833 155156833 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:155156833C>A uc003inw.2 - 25 7606 c.7606G>T c.(7606-7608)GCC>TCC p.A2536S NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 2536 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) AAGCTGCTGGCGAACACTGCC 0.393 NA 16 94 1.03e-11 1.19e-11 1 0 TKTL2 84076 broad.mit.edu 37 4 164393537 164393537 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr4:164393537G>C uc003iqp.3 - 1 1511 c.1350C>G c.(1348-1350)TTC>TTG p.F450L NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN transketolase-like 2 450 cytoplasm metal ion binding|transketolase activity ovary(2)|skin(2)|pancreas(1) 5 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CACTTGGATAGAAAACAGTAC 0.488 NA 39 131 0 0 0 0 DNAH5 1767 broad.mit.edu 37 5 13721351 13721351 + Missense_Mutation SNP G G A rs148349630 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:13721351G>A uc003jfd.2 - 71 12079 c.12037C>T c.(12037-12039)CGC>TGC p.R4013C DNAH5_uc003jfc.2_Missense_Mutation_p.R181C NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4013 AAA 6 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) ATGTACTTGCGGGCCTGCCAA 0.328 NA Kartagener_syndrome 52 84 0 0 0 0 MAP3K1 4214 broad.mit.edu 37 5 56170929 56170929 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:56170929G>A uc003jqw.3 + 10 2258 c.1757G>A c.(1756-1758)CGT>CAT p.R586H NM_005921 NP_005912 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 586 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GCCCTCAGGCGTCTTTCCCAT 0.527 NA 48 277 0 0 0 0 HTR1A 3350 broad.mit.edu 37 5 63256858 63256858 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:63256858A>G uc011cqt.1 - 1 689 c.689T>C c.(688-690)GTC>GCC p.V230A NM_000524 NP_000515 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A 230 Cytoplasmic (By similarity). behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity ovary(2)|pancreas(2) 4 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) CACCTTTTTGACCGTCTTGCG 0.587 NA 4 99 0 0 0 0 SLCO4C1 353189 broad.mit.edu 37 5 101606380 101606380 + Silent SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:101606380T>A uc003knm.2 - 3 1037 c.750A>T c.(748-750)GGA>GGT p.G250G NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 250 Helical; Name=4; (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) GAAAGGCTGTTCCCAGAGTAT 0.388 NA 9 104 0 0 0 0 DMXL1 1657 broad.mit.edu 37 5 118469800 118469800 + Silent SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:118469800G>A uc003ksd.2 + 12 2362 c.2181G>A c.(2179-2181)CGG>CGA p.R727R DMXL1_uc010jcl.1_Silent_p.R727R|DMXL1_uc003ksc.1_Silent_p.R727R NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 727 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) AGCTTGCCCGGATTAATTCTC 0.443 NA 26 257 0 0 0 0 PRR16 51334 broad.mit.edu 37 5 120021755 120021755 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:120021755C>A uc003ksq.2 + 2 429 c.266C>A c.(265-267)GCC>GAC p.A89D PRR16_uc003ksp.2_Missense_Mutation_p.A66D|PRR16_uc003ksr.2_Missense_Mutation_p.A19D NM_016644 NP_057728 Q569H4 PRR16_HUMAN proline rich 16 89 pancreas(2)|ovary(1) 3 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) GGCACAACAGCCTCCAGCCTA 0.527 NA 42 75 2.66e-13 3.1e-13 1 0 NR3C1 2908 broad.mit.edu 37 5 142779539 142779539 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:142779539G>A uc003lmz.2 - 2 1358 c.866C>T c.(865-867)CCT>CTT p.P289L NR3C1_uc003lmy.2_Missense_Mutation_p.P289L|NR3C1_uc003lna.2_Missense_Mutation_p.P289L|NR3C1_uc003lnb.2_Missense_Mutation_p.P289L|NR3C1_uc011dbk.1_Intron|NR3C1_uc003lnc.2_Missense_Mutation_p.P289L|NR3C1_uc003lnd.2_Missense_Mutation_p.P289L|NR3C1_uc003lne.2_Missense_Mutation_p.P289L|NR3C1_uc003lnf.2_Missense_Mutation_p.P289L|NR3C1_uc003lng.2_Missense_Mutation_p.P289L|NR3C1_uc003lnh.2_Missense_Mutation_p.P289L|NR3C1_uc003lni.2_Missense_Mutation_p.P289L NM_000176 NP_000167 P04150 GCR_HUMAN glucocorticoid receptor isoform alpha 289 Modulating. chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding ovary(2) 2 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) AATTACCCCAGGGGTGCAGAG 0.398 NA 7 331 0 0 0 0 FAT2 2196 broad.mit.edu 37 5 150925174 150925174 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:150925174G>T uc003lue.3 - 9 5527 c.5514C>A c.(5512-5514)TTC>TTA p.F1838L GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 1838 Extracellular (Potential).|Cadherin 16. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATAGACACAGAATTGGAAAG 0.463 NA 27 135 1.4e-14 1.65e-14 1 0 GABRP 2568 broad.mit.edu 37 5 170222219 170222219 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr5:170222219C>A uc003mau.2 + 5 446 c.248C>A c.(247-249)ACA>AAA p.T83K GABRP_uc011dev.1_Missense_Mutation_p.T83K NM_014211 NP_055026 O00591 GBRP_HUMAN gamma-aminobutyric acid (GABA) A receptor, pi 83 Extracellular (Potential). cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity breast(1) 1 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CAGGACTACACAGCCACCATA 0.567 NA 13 274 8.6e-14 1.01e-13 1 0 HIST1H2AA 221613 broad.mit.edu 37 6 25726458 25726458 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:25726458C>T uc003nfc.2 - 1 333 c.298G>A c.(298-300)GGC>AGC p.G100S HIST1H2BA_uc003nfd.2_5'Flank NM_170745 NP_734466 Q96QV6 H2A1A_HUMAN histone cluster 1, H2aa 100 nucleosome assembly nucleosome|nucleus DNA binding 0 ATGGTCACGCCGCCCAAAAGC 0.532 NA 123 207 0 0 0 0 TRIM27 5987 broad.mit.edu 37 6 28872383 28872383 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:28872383G>A uc003nlr.2 - 8 1365 c.1006C>T c.(1006-1008)CGG>TGG p.R336W TRIM27_uc003nls.2_Missense_Mutation_p.R336W|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 336 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 CGCACTTGCCGCAGATTATCA 0.577 NA T RET papillary thyroid 9 53 0 0 0 0 TNXB 7148 broad.mit.edu 37 6 32038061 32038061 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:32038061C>A uc003nzl.2 - 14 5323 c.5121G>T c.(5119-5121)CAG>CAT p.Q1707H NM_019105 NP_061978 P22105 TENX_HUMAN tenascin XB isoform 1 precursor 1789 Fibronectin type-III 10. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding 0 TGTCCTTGAACTGGACCACAA 0.637 NA 10 23 0.000673444 0.000723151 1 0 ATF6B 1388 broad.mit.edu 37 6 32093996 32093996 + Missense_Mutation SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:32093996T>A uc003nzn.2 - 5 409 c.376A>T c.(376-378)ACA>TCA p.T126S ATF6B_uc003nzo.2_Missense_Mutation_p.T123S|ATF6B_uc011dpg.1_Missense_Mutation_p.T60S|ATF6B_uc011dph.1_Missense_Mutation_p.T126S NM_004381 NP_004372 Q99941 ATF6B_HUMAN activating transcription factor 6 beta isoform 126 Cytoplasmic (Potential). response to unfolded protein|signal transduction endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AAGGACTCTGTCTTCACATGG 0.542 NA 49 71 0 0 0 0 C6orf165 154313 broad.mit.edu 37 6 88138453 88138453 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:88138453A>G uc003plv.2 + 9 1162 c.1070A>G c.(1069-1071)CAC>CGC p.H357R C6orf165_uc003plw.2_Missense_Mutation_p.H169R|C6orf165_uc010kbv.1_RNA|C6orf165_uc003plu.1_Missense_Mutation_p.H357R NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 357 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TTGGGTGCTCACGAACTATAC 0.408 NA 85 134 0 0 0 0 SLC16A10 117247 broad.mit.edu 37 6 111498518 111498518 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:111498518C>T uc003pus.2 + 3 767 c.592C>T c.(592-594)CGC>TGC p.R198C SLC16A10_uc003pur.3_Missense_Mutation_p.R198C|SLC16A10_uc003put.2_5'UTR NM_018593 NP_061063 Q8TF71 MOT10_HUMAN solute carrier family 16, member 10 198 Extracellular (Potential). aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity 0 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) TTTCAAGAAGCGCCTTGGACT 0.498 NA 38 107 0 0 0 0 TXLNB 167838 broad.mit.edu 37 6 139568987 139568987 + Missense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:139568987C>A uc011eds.1 - 8 1302 c.1137G>T c.(1135-1137)GAG>GAT p.E379D NM_153235 NP_694967 Q8N3L3 TXLNB_HUMAN taxilin beta 379 Potential. cytoplasm large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235) TGGCAAACACCTCGTTGCTTT 0.383 NA 4 180 0.00024832 0.000271168 1 0 ARID1B 57492 broad.mit.edu 37 6 157528336 157528336 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:157528336A>G uc003qqn.2 + 20 6159 c.6007A>G c.(6007-6009)AGG>GGG p.R2003G ARID1B_uc003qqo.2_Missense_Mutation_p.R1963G|ARID1B_uc003qqp.2_Missense_Mutation_p.R1950G NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN AT rich interactive domain 1B (SWI1-like) 2008 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity ovary(1)|breast(1) 2 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) CGAGGTCTTGAGGGATAACAC 0.542 NA 3 126 0 0 0 0 FAM120B 84498 broad.mit.edu 37 6 170626814 170626814 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:170626814A>G uc003qxp.2 + 2 444 c.336A>G c.(334-336)ATA>ATG p.I112M FAM120B_uc003qxo.1_Missense_Mutation_p.I112M|FAM120B_uc011ehd.1_Intron NM_032448 NP_115824 Q96EK7 F120B_HUMAN family with sequence similarity 120B 112 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding ovary(1) 1 Breast(66;0.000338)|Esophageal squamous(34;0.241) OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899) ACAGGGAGATATCCAGGATTT 0.453 NA 40 114 0 0 0 0 SDK1 221935 broad.mit.edu 37 7 4051785 4051785 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:4051785C>T uc003smx.2 + 16 2477 c.2338C>T c.(2338-2340)CGG>TGG p.R780W SDK1_uc010kso.2_Missense_Mutation_p.R56W NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 780 Fibronectin type-III 2. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) GGCCAGTGGGCGGACTAATCA 0.512 NA 6 318 0 0 0 0 THSD7A 221981 broad.mit.edu 37 7 11418786 11418786 + Missense_Mutation SNP A A G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:11418786A>G uc003ssf.3 - 25 4964 c.4712T>C c.(4711-4713)GTG>GCG p.V1571A uc003ssb.2_Intron|THSD7A_uc003ssd.3_Missense_Mutation_p.V75A NM_015204 NP_056019 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 1571 Extracellular (Potential). integral to membrane ovary(3) 3 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) ACTGGTTTTCACATCTCCTCT 0.522 NA HNSCC(18;0.044) 24 152 0 0 0 0 TXNDC3 51314 broad.mit.edu 37 7 37927910 37927910 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:37927910C>T uc003tfn.2 + 15 1651 c.1279C>T c.(1279-1281)CCG>TCG p.P427S NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 427 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 GGACAGTTTGCCGGTCAACCA 0.368 NA Kartagener_syndrome 4 180 0 0 0 0 EPDR1 54749 broad.mit.edu 37 7 37989814 37989814 + Missense_Mutation SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:37989814T>A uc003tfp.2 + 3 870 c.851T>A c.(850-852)ATT>AAT p.I284N EPDR1_uc003tfq.2_3'UTR|EPDR1_uc010kxh.2_Missense_Mutation_p.I103N NM_017549 NP_060019 Q9UM22 EPDR1_HUMAN ependymin related protein 1 precursor 164 cell-matrix adhesion extracellular region calcium ion binding upper_aerodigestive_tract(1) 1 GAAACCTGGATTGGCATCTAT 0.318 NA 11 109 0 0 0 0 ADCY1 107 broad.mit.edu 37 7 45750144 45750144 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:45750144G>T uc003tne.3 + 19 2968 c.2950G>T c.(2950-2952)GTG>TTG p.V984L NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 984 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) TGTTGGCCCTGTGGTGGCTGG 0.582 NA 18 101 1.11e-09 1.27e-09 1 0 IGFBP3 3486 broad.mit.edu 37 7 45956911 45956911 + Silent SNP T T C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:45956911T>C uc003tns.2 - 2 663 c.531A>G c.(529-531)AAA>AAG p.K177K IGFBP3_uc003tnq.2_RNA|IGFBP3_uc003tnr.2_Silent_p.K183K|IGFBP3_uc003tnt.2_Silent_p.K80K NM_000598 NP_000589 P17936 IBP3_HUMAN insulin-like growth factor binding protein 3 177 negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth nucleus insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity large_intestine(2)|lung(1) 3 Mecasermin(DB01277) TAGCATGCCCTTTCTTGATGA 0.547 NA OREG0018049 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 116 162 0 0 0 0 PCLO 27445 broad.mit.edu 37 7 82764455 82764455 + Missense_Mutation SNP T T G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:82764455T>G uc003uhx.2 - 3 2700 c.2411A>C c.(2410-2412)CAG>CCG p.Q804P PCLO_uc003uhv.2_Missense_Mutation_p.Q804P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 750 Pro-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TGGAAAACTCTGTGAGGGTTT 0.433 NA 80 185 0 0 0 0 GRM3 2913 broad.mit.edu 37 7 86415678 86415678 + Silent SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:86415678C>T uc003uid.2 + 3 1669 c.570C>T c.(568-570)ACC>ACT p.T190T GRM3_uc010lef.2_Silent_p.T188T|GRM3_uc010leg.2_Silent_p.T62T|GRM3_uc010leh.2_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 precursor 190 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(4)|ovary(3)|central_nervous_system(2)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1) 13 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TTGCCAGGACCGTGCCCCCCG 0.567 NA 41 153 0 0 0 0 RELN 5649 broad.mit.edu 37 7 103252122 103252122 + Missense_Mutation SNP A A T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:103252122A>T uc003vca.2 - 21 2991 c.2831T>A c.(2830-2832)ATG>AAG p.M944K RELN_uc010liz.2_Missense_Mutation_p.M944K NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 944 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGGTTGTCCATGTGTGGGGT 0.463 NA 32 46 0 0 0 0 GPR22 2845 broad.mit.edu 37 7 107115239 107115239 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:107115239G>A uc003vef.2 + 3 2080 c.734G>A c.(733-735)AGA>AAA p.R245K COG5_uc003vec.2_Intron|COG5_uc003ved.2_Intron|COG5_uc003vee.2_Intron NM_005295 NP_005286 Q99680 GPR22_HUMAN G protein-coupled receptor 22 245 Cytoplasmic (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(2) 2 ATAGGCACAAGATTTTCAACA 0.378 NA 14 52 0 0 0 0 NOM1 64434 broad.mit.edu 37 7 156755792 156755792 + Missense_Mutation SNP G G T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:156755792G>T uc003wmy.2 + 6 1849 c.1834G>T c.(1834-1836)GTG>TTG p.V612L NOM1_uc010lqp.1_Missense_Mutation_p.V61L NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 612 RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) CTGGTGGATTGTGGGGTCCGC 0.622 NA 17 46 6.94e-10 7.95e-10 1 0 DOCK5 80005 broad.mit.edu 37 8 25166333 25166333 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:25166333C>G uc003xeg.2 + 12 1221 c.1084C>G c.(1084-1086)CTC>GTC p.L362V DOCK5_uc010luf.1_RNA|DOCK5_uc003xeh.1_Missense_Mutation_p.L76V|DOCK5_uc003xei.2_5'Flank NM_024940 NP_079216 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 362 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity ovary(3) 3 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) CCAGAGGCAGCTCATCATGTC 0.468 NA 27 26 0 0 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70591756 70591756 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:70591756C>G uc003xyl.2 - 8 2588 c.1881G>C c.(1879-1881)AAG>AAC p.K627N SLCO5A1_uc010lzb.2_Missense_Mutation_p.K572N|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.K627N NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 627 Extracellular (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) TGAGATAAGTCTTGACAATAA 0.448 NA 47 229 0 0 0 0 KCNB2 9312 broad.mit.edu 37 8 73480489 73480489 + Missense_Mutation SNP G G C TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:73480489G>C uc003xzb.2 + 2 1108 c.520G>C c.(520-522)GAT>CAT p.D174H NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 174 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) CTGCTGCCCTGATAAAAGGAA 0.438 NA 37 212 0 0 0 0 FABP5 2171 broad.mit.edu 37 8 82195651 82195651 + Missense_Mutation SNP A A G rs145774881 TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:82195651A>G uc003yca.1 + 2 178 c.130A>G c.(130-132)ATC>GTC p.I44V NM_001444 NP_001435 Q01469 FABP5_HUMAN fatty acid binding protein 5 44 epidermis development cytoplasm fatty acid binding|protein binding|transporter activity 0 Lung NSC(7;3.57e-05)|all_lung(9;0.00011) Epithelial(68;0.102) GCCAGATTGTATCATCACTTG 0.393 NA 9 93 0 0 0 0 KCNS2 3788 broad.mit.edu 37 8 99440425 99440425 + Missense_Mutation SNP G G A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:99440425G>A uc003yin.2 + 2 568 c.218G>A c.(217-219)CGC>CAC p.R73H NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 73 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) TACTTCGACCGCAACCCTGAG 0.597 NA 5 249 0 0 0 0 MTSS1 9788 broad.mit.edu 37 8 125577991 125577991 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:125577991C>G uc003yrk.2 - 9 1270 c.736G>C c.(736-738)GAC>CAC p.D246H NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'UTR|MTSS1_uc011lio.1_Missense_Mutation_p.D136H|MTSS1_uc003yri.2_Missense_Mutation_p.D46H|MTSS1_uc003yrj.2_Missense_Mutation_p.D246H|MTSS1_uc003yrl.2_Missense_Mutation_p.D250H NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 246 IMD.|Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) CCTTTCAAGTCCAGAATCACC 0.527 NA 55 50 0 0 0 0 CYP11B2 1585 broad.mit.edu 37 8 143996592 143996592 + Missense_Mutation SNP C C G TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr8:143996592C>G uc003yxk.1 - 3 468 c.465G>C c.(463-465)CAG>CAC p.Q155H NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 155 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) GGAGGAACCTCTGCACGGCCT 0.637 NA Familial_Hyperaldosteronism_type_I 10 59 0 0 0 0 TMEM38B 55151 broad.mit.edu 37 9 108483954 108483954 + Missense_Mutation SNP T T A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr9:108483954T>A uc004bcu.1 + 3 523 c.406T>A c.(406-408)TAT>AAT p.Y136N TMEM38B_uc010mtn.1_Intron NM_018112 NP_060582 Q9NVV0 TM38B_HUMAN transmembrane protein 38B 136 Cytoplasmic (Potential). integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity ovary(1)|skin(1) 2 TGCTAATAGCTATTACAAAAA 0.388 NA 75 44 0 0 0 0 CACNA1B 774 broad.mit.edu 37 9 140919617 140919617 + Silent SNP C C T rs147270326 by1000genomes TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr9:140919617C>T uc004cog.2 + 20 3424 c.3279C>T c.(3277-3279)GTC>GTT p.V1093V CACNA1B_uc011mfd.1_Silent_p.V623V|CACNA1B_uc004coi.2_Silent_p.V303V NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 1093 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) AAGCCACGGTCGTTCCCAGTG 0.617 NA 28 13 0 0 0 0 ASB9 140462 broad.mit.edu 37 X 15268558 15268558 + Nonsense_Mutation SNP C C A TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chrX:15268558C>A uc004cwl.2 - 5 809 c.562G>T c.(562-564)GAG>TAG p.E188* ASB9_uc004cwk.2_Nonsense_Mutation_p.E188*|ASB9_uc004cwm.2_Nonsense_Mutation_p.E178*|ASB9_uc010ner.2_Nonsense_Mutation_p.E188*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E159* NM_001031739 NP_001026909 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box-containing 9 isoform 188 ANK 5. intracellular signal transduction 0 Hepatocellular(33;0.183) TTACCTGACTCCAGAAGCTTC 0.348 NA 37 56 4.14e-20 4.93e-20 1 0 SLC7A3 84889 broad.mit.edu 37 X 70149727 70149728 + Missense_Mutation DNP CC CC TA TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chrX:70149727_70149728CC>TA uc004dyn.2 - 2 278_279 c.120_121GG>TA c.(118-123)CTGGGT>CTTAGT p.G41S SLC7A3_uc004dyo.2_Missense_Mutation_p.G41S NM_032803 NP_116192 Q8WY07 CTR3_HUMAN solute carrier family 7 (cationic amino acid 41 Helical; Name=1; (Potential). cellular nitrogen compound metabolic process integral to membrane|plasma membrane ovary(1)|kidney(1) 2 Renal(35;0.156) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CTGCCCACACCCAGGGCCACTA 0.559 NA 7 28 0 0 0 0 STAG2 10735 broad.mit.edu 37 X 123164834 123164834 + Silent SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chrX:123164834C>T uc004etz.3 + 4 486 c.147C>T c.(145-147)GGC>GGT p.G49G STAG2_uc004eua.2_Silent_p.G49G|STAG2_uc004eub.2_Silent_p.G49G|STAG2_uc004euc.2_Silent_p.G49G|STAG2_uc004eud.2_Silent_p.G49G|STAG2_uc004eue.2_Silent_p.G49G NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 49 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 GCAAAAAGGGCCCAGCAGAAA 0.418 NA 76 31 0 0 0 0 IRAK1 3654 broad.mit.edu 37 X 153278545 153278545 + Missense_Mutation SNP C C T TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chrX:153278545C>T uc004fjs.1 - 12 1958 c.1879G>A c.(1879-1881)GGA>AGA p.G627R IRAK1_uc004fjr.1_Missense_Mutation_p.G597R|IRAK1_uc004fjt.1_Missense_Mutation_p.G548R|IRAK1_uc010nur.2_Intron NM_001569 NP_001560 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 627 activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity lung(5)|ovary(2)|breast(1)|central_nervous_system(1) 9 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTCGATTCTCCTGCCGTGTCC 0.687 NA 16 15 0 0 0 0 C11orf41 25758 broad.mit.edu 37 11 33565011 33565017 + Frame_Shift_Del DEL CACCCAG CACCCAG - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr11:33565011_33565017delCACCCAG uc001mup.3 + 1 1135_1141 c.1011_1017delCACCCAG c.(1009-1017)GCCACCCAGfs p.A337fs C11orf41_uc001mun.1_Frame_Shift_Del_p.A337fs NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 337_339 integral to membrane ovary(2) 2 CCATACAAGCCACCCAGACTGTTTTCC 0.517 NA OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 307 --- --- --- --- NA NA NA NA STK16 8576 broad.mit.edu 37 2 220113249 220113250 + In_Frame_Ins INS - - CAG TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr2:220113249_220113250insCAG uc002vko.2 + 8 1043_1044 c.886_887insCAG c.(886-888)CCA>CCAGCA p.297_298insA STK16_uc002vks.2_In_Frame_Ins_p.179_180insA|STK16_uc002vkp.2_In_Frame_Ins_p.297_298insA|STK16_uc002vkr.2_In_Frame_Ins_p.230_231insA|STK16_uc002vkq.2_In_Frame_Ins_p.342_343insA NM_001008910 NP_001008910 O75716 STK16_HUMAN serine/threonine kinase 16 297_298 protein complex assembly membrane ATP binding|protein binding|protein serine/threonine kinase activity skin(1) 1 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTTCAGCCCCCAGCTCCTGGC 0.55 NA 22 162 --- --- --- --- NA NA NA NA POLR3H 171568 broad.mit.edu 37 22 41928719 41928719 + Frame_Shift_Del DEL A A - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr22:41928719delA uc003baf.2 - 4 299 c.239delT c.(238-240)TTCfs p.F80fs POLR3H_uc003bae.2_RNA|POLR3H_uc003bag.2_Frame_Shift_Del_p.F80fs|POLR3H_uc003bai.2_Intron NM_138338 NP_612211 Q9Y535 RPC8_HUMAN polymerase (RNA) III (DNA directed) polypeptide 80 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity skin(1) 1 CTCATCTAGGAATGGATGAAA 0.547 NA OREG0026590 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 73 --- --- --- --- NA NA NA NA TREX1 11277 broad.mit.edu 37 3 48507992 48507993 + Frame_Shift_Del DEL CT CT - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr3:48507992_48507993delCT uc003ctj.2 + 2 1360_1361 c.103_104delCT c.(103-105)CTGfs p.L35fs TREX1_uc010hjy.2_Intron|TREX1_uc003ctk.2_Intron|TREX1_uc010hjz.2_Intron|TREX1_uc010hka.2_Frame_Shift_Del_p.L35fs NM_033629 NP_338599 Q9NSU2 TREX1_HUMAN three prime repair exonuclease 1 isoform b 35 cell death|DNA recombination|DNA replication|mismatch repair nuclear envelope 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GATCTTAACACTGGGCACTCAC 0.658 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 101 153 --- --- --- --- NA NA NA NA C6orf182 285753 broad.mit.edu 37 6 109484156 109484158 + In_Frame_Del DEL ATC ATC - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr6:109484156_109484158delATC uc010kdk.2 + 13 1943_1945 c.1366_1368delATC c.(1366-1368)ATCdel p.I456del C6orf182_uc003psx.3_3'UTR|C6orf182_uc010kdl.2_In_Frame_Del_p.I456del|C6orf182_uc003psy.3_In_Frame_Del_p.I456del NM_001083535 NP_001077004 Q8IYX8 CE57L_HUMAN hypothetical protein LOC285753 456 microtubule|microtubule organizing center 0 all_cancers(87;4.45e-07)|Acute lymphoblastic leukemia(125;2.15e-10)|all_hematologic(75;3.25e-08)|all_epithelial(87;0.000254)|Colorectal(196;0.0293)|all_lung(197;0.11) BRCA - Breast invasive adenocarcinoma(108;0.00123)|Epithelial(106;0.0022)|all cancers(137;0.00405)|OV - Ovarian serous cystadenocarcinoma(136;0.0233) AAGAGATGATATCATGTGGGAAC 0.335 NA 20 58 --- --- --- --- NA NA NA NA OGDH 4967 broad.mit.edu 37 7 44715617 44715617 + Frame_Shift_Del DEL A A - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr7:44715617delA uc003tln.2 + 9 1184 c.1075delA c.(1075-1077)AATfs p.N359fs OGDH_uc003tlm.2_Frame_Shift_Del_p.N359fs|OGDH_uc011kbx.1_Frame_Shift_Del_p.N355fs|OGDH_uc011kby.1_Frame_Shift_Del_p.N209fs|OGDH_uc003tlp.2_Frame_Shift_Del_p.N370fs|OGDH_uc011kbz.1_Frame_Shift_Del_p.N154fs|OGDH_uc003tlo.1_Frame_Shift_Del_p.N192fs NM_002541 NP_002532 Q02218 ODO1_HUMAN oxoglutarate dehydrogenase isoform 1 precursor 359 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding upper_aerodigestive_tract(1)|ovary(1) 2 NADH(DB00157) CCGCAGGATCAATCGTGTCAC 0.562 NA 78 216 --- --- --- --- NA NA NA NA NOTCH1 4851 broad.mit.edu 37 9 139411734 139411740 + Frame_Shift_Del DEL CTCGCAC CTCGCAC - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chr9:139411734_139411740delCTCGCAC uc004chz.2 - 9 1539_1545 c.1539_1545delGTGCGAG c.(1537-1545)CAGTGCGAGfs p.Q513fs NM_017617 NP_060087 P46531 NOTC1_HUMAN notch1 preproprotein 513_515 Extracellular (Potential).|EGF-like 13; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1) 856 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCGTGGGGCACTCGCACTGGAACTCAT 0.691 NA T|Mis|O TRB@ T-ALL HNSCC(8;0.001) 12 12 --- --- --- --- NA NA NA NA GUCY2F 2986 broad.mit.edu 37 X 108619355 108619355 + Frame_Shift_Del DEL T T - TCGA-BA-5149-01A-01D-1512-08 TCGA-BA-5149-10A-01D-1512-08 Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 6e98841c-ce33-4b7e-882d-ce65707d4c10 a86b1ecb-9d55-4acf-9c94-c4b3f761a2cb g.chrX:108619355delT uc004eod.3 - 18 3468 c.3192delA c.(3190-3192)AAAfs p.K1064fs GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 1064 Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 TCATGAAGCCTTTTTTCCCAA 0.418 NA 7 359 --- --- --- --- NA NA NA NA