Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values isArtifactMode oxoGCut pox pox_cutoff qox t_alt_count t_ref_count validation_alt_allele validation_tumor_sample NOC2L 26155 broad.mit.edu 37 1 880485 880485 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:880485C>T uc001abz.3 - 18 2154 c.2095G>A c.(2095-2097)GAT>AAT p.D699N NOC2L_uc001aby.3_Missense_Mutation_p.D496N|NOC2L_uc009vjq.2_Missense_Mutation_p.D699N NM_015658 NP_056473 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog 699 Asp/Glu-rich (acidic). nucleolus protein binding ovary(1)|skin(1) 2 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) tcctcttcatcgtcttccacc 0.468 NaN 0 0 0 0.008291 0 9 13 VWA1 64856 broad.mit.edu 37 1 1374667 1374667 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:1374667G>A uc001afs.2 + 3 1058 c.838G>A c.(838-840)GAC>AAC p.D280N VWA1_uc001afr.2_Missense_Mutation_p.D68N NM_022834 NP_073745 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 280 Fibronectin type-III 1. basement membrane 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) CACGGACTACGACGTGGCGCT 0.741 NaN 0 0 0 0.009096 0 4 8 TAS1R1 80835 broad.mit.edu 37 1 6634783 6634783 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:6634783G>A uc001ant.2 + 3 591 c.591G>A c.(589-591)GAG>GAA p.E197E TAS1R1_uc001anu.2_Intron|TAS1R1_uc001anv.2_Intron|TAS1R1_uc001anw.2_Silent_p.E197E NM_138697 NP_619642 Q7RTX1 TS1R1_HUMAN sweet taste receptor T1r isoform b 197 Extracellular (Potential). sensory perception of umami taste plasma membrane protein heterodimerization activity|taste receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) ACCAGGTGGAGACCATGGTGC 0.587 NaN 0 0 0 0.004482 0 9 40 TNFRSF8 943 broad.mit.edu 37 1 12164562 12164562 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:12164562C>T uc001atq.2 + 4 617 c.395C>T c.(394-396)CCG>CTG p.P132L TNFRSF8_uc010obc.1_Missense_Mutation_p.P21L NM_001243 NP_001234 P28908 TNR8_HUMAN tumor necrosis factor receptor superfamily, 132 TNFR-Cys 3.|Extracellular (Potential). cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process cytoplasm|integral to membrane|plasma membrane skin(2)|ovary(1)|pancreas(1)|central_nervous_system(1) 5 Ovarian(185;0.249) Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649) TCTGTCTGTCCGGCAGGGATG 0.577 NaN 0 0 0 0.008291 0 9 21 FBLIM1 54751 broad.mit.edu 37 1 16111108 16111108 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:16111108C>G uc001axd.1 + 10 1517 c.1074C>G c.(1072-1074)CTC>CTG p.L358L FBLIM1_uc001axe.1_Silent_p.L358L|FBLIM1_uc001axf.2_RNA|FBLIM1_uc001axh.1_Silent_p.L261L|FBLIM1_uc001axi.1_Silent_p.L261L NM_017556 NP_060026 Q8WUP2 FBLI1_HUMAN filamin-binding LIM protein-1 isoform a 358 PLEKHC1-binding.|LIM zinc-binding 3. cell adhesion|cell junction assembly|regulation of cell shape cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle zinc ion binding skin(1) 1 Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138) ACAACCATCTCTTCTGCAAGC 0.637 NaN 0 0 0 0.001984 0 6 75 FBXO42 54455 broad.mit.edu 37 1 16641903 16641903 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:16641903G>A uc001ayg.2 - 2 227 c.11C>T c.(10-12)TCC>TTC p.S4F FBXO42_uc001ayf.2_5'UTR|FBXO42_uc001ayh.2_Missense_Mutation_p.S4F NM_018994 NP_061867 Q6P3S6 FBX42_HUMAN F-box protein 42 4 upper_aerodigestive_tract(1)|skin(1) 2 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693) ACTGTCCGAGGAGCTGGCCAT 0.458 NaN 0 0 0 0.010729 0 10 65 SPATA21 374955 broad.mit.edu 37 1 16727277 16727277 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:16727277C>T uc001ayn.2 - 11 1595 c.1112G>A c.(1111-1113)AGC>AAC p.S371N SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.S348N NM_198546 NP_940948 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 371 calcium ion binding ovary(2)|breast(1) 3 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) AACTTCTGAGCTCTCTTCTTG 0.592 NaN 0 0 0 0.004007 0 17 209 HP1BP3 50809 broad.mit.edu 37 1 21103139 21103139 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:21103139C>T uc001bdw.1 - 4 441 c.301G>A c.(301-303)GAG>AAG p.E101K HP1BP3_uc001bdv.1_Missense_Mutation_p.E63K|HP1BP3_uc010odh.1_Missense_Mutation_p.E63K|HP1BP3_uc001bdy.1_Missense_Mutation_p.E101K|HP1BP3_uc001bdz.2_RNA|HP1BP3_uc001bea.2_Missense_Mutation_p.E100K|HP1BP3_uc001beb.2_Missense_Mutation_p.E101K NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 101 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) TCTTCATTCTCAGGTTCCCCC 0.403 NaN 0 0 0 0.01441 0 65 147 CELA3A 10136 broad.mit.edu 37 1 22336318 22336318 + Missense_Mutation SNP C C G rs148724731 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:22336318C>G uc001bfl.2 + 7 782 c.763C>G c.(763-765)CGA>GGA p.R255G NM_005747 NP_005738 P09093 CEL3A_HUMAN elastase 3A, pancreatic preproprotein 255 Peptidase S1. cholesterol metabolic process|digestion|proteolysis serine-type endopeptidase activity haematopoietic_and_lymphoid_tissue(1) 1 GGTGTTCACTCGAGTCTCCGC 0.592 NaN 0 0 0 0.013537 0 11 55 ARID1A 8289 broad.mit.edu 37 1 27102121 27102121 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:27102121G>C uc001bmv.1 + 19 5420 c.5047G>C c.(5047-5049)GAG>CAG p.E1683Q ARID1A_uc001bmt.1_Missense_Mutation_p.E1682Q|ARID1A_uc001bmu.1_Missense_Mutation_p.E1466Q|ARID1A_uc001bmx.1_Missense_Mutation_p.E529Q|ARID1A_uc009vsm.1_Missense_Mutation_p.E11Q|ARID1A_uc009vsn.1_5'UTR NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 1683 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TCTCCTGGCAGAGAGCACATG 0.522 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.001984 0 7 27 SPOCD1 90853 broad.mit.edu 37 1 32280503 32280503 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:32280503C>G uc001bts.1 - 2 490 c.432G>C c.(430-432)GAG>GAC p.E144D SPOCD1_uc001btu.2_Missense_Mutation_p.E144D|SPOCD1_uc001btv.2_Intron NM_144569 NP_653170 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 144 transcription, DNA-dependent ovary(5)|breast(1) 6 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CCAGAGCTCTCTCTGGGAGGC 0.592 NaN 0 0 0 0.01441 0 36 92 LCK 3932 broad.mit.edu 37 1 32742252 32742252 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:32742252C>A uc001bux.2 + 9 967 c.829C>A c.(829-831)CAG>AAG p.Q277K LCK_uc001buy.2_Missense_Mutation_p.Q277K|LCK_uc001buz.2_Missense_Mutation_p.Q277K|LCK_uc010ohc.1_Missense_Mutation_p.Q321K|LCK_uc001bva.2_Missense_Mutation_p.Q284K NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 277 Protein kinase. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GAGCCTGAAGCAGGGCAGCAT 0.637 NaN T TRB@ T-ALL 1 0 2.23348e-06 0.004007 2.37504e-06 16 58 RNF220 55182 broad.mit.edu 37 1 45115332 45115332 + Splice_Site SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:45115332G>A uc001clv.1 + 13 1806 c.1446_splice c.e13-1 p.K482_splice RNF220_uc001clw.1_Splice_Site_p.K482_splice|RNF220_uc010oky.1_Splice_Site_p.K269_splice|RNF220_uc010okz.1_Splice_Site_p.K224_splice|RNF220_uc001clx.1_Splice_Site_p.K198_splice|RNF220_uc001cly.1_Splice_Site_p.K162_splice|RNF220_uc001clz.1_Splice_Site_p.K161_splice|RNF220_uc001cma.1_Splice_Site_p.K161_splice|TMEM53_uc001cmb.1_Intron NM_018150 NP_060620 Q5VTB9 RN220_HUMAN ring finger protein 220 protein autoubiquitination cytoplasm ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 CCTTTTTACAGAATCACCGAA 0.338 NaN 0 0 0 0.00308 0 8 124 TMEM53 79639 broad.mit.edu 37 1 45120468 45120468 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:45120468G>C uc001cmc.2 - 3 633 c.597C>G c.(595-597)TTC>TTG p.F199L TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.F126L|TMEM53_uc009vxh.1_Missense_Mutation_p.F82L|TMEM53_uc010ola.1_Missense_Mutation_p.F82L NM_024587 NP_078863 Q6P2H8 TMM53_HUMAN transmembrane protein 53 199 integral to membrane ovary(2) 2 Acute lymphoblastic leukemia(166;0.155) GCCTGTCATAGAAGTGGGTGT 0.617 NaN 0 0 0 0.008291 0 10 41 ZFYVE9 9372 broad.mit.edu 37 1 52704276 52704276 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52704276C>T uc001cto.2 + 4 1359 c.1187C>T c.(1186-1188)TCT>TTT p.S396F ZFYVE9_uc001ctn.2_Missense_Mutation_p.S396F|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S396F NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 396 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TTCTCTGAATCTCAGGACATG 0.368 NaN 0 0 0 0.004656 0 25 126 ZFYVE9 9372 broad.mit.edu 37 1 52704805 52704805 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52704805C>T uc001cto.2 + 4 1888 c.1716C>T c.(1714-1716)ATC>ATT p.I572I ZFYVE9_uc001ctn.2_Silent_p.I572I|ZFYVE9_uc001ctp.2_Silent_p.I572I NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 572 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 TGCCATCTATCAGTGTTCCTT 0.393 NaN 0 0 0 0.003163 0 15 87 ZFYVE9 9372 broad.mit.edu 37 1 52704876 52704876 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52704876C>T uc001cto.2 + 4 1959 c.1787C>T c.(1786-1788)TCA>TTA p.S596L ZFYVE9_uc001ctn.2_Missense_Mutation_p.S596L|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S596L NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 596 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 AAGCCATTATCAGACCATTTA 0.378 NaN 0 0 0 0.010729 0 12 77 ZFYVE9 9372 broad.mit.edu 37 1 52705008 52705008 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52705008C>G uc001cto.2 + 4 2091 c.1919C>G c.(1918-1920)TCT>TGT p.S640C ZFYVE9_uc001ctn.2_Missense_Mutation_p.S640C|ZFYVE9_uc001ctp.2_Missense_Mutation_p.S640C NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 640 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 GGAAACATCTCTAATGTCGAT 0.378 NaN 0 0 0 0.003954 0 25 113 ZFYVE9 9372 broad.mit.edu 37 1 52705108 52705108 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52705108C>T uc001cto.2 + 4 2191 c.2019C>T c.(2017-2019)CTC>CTT p.L673L ZFYVE9_uc001ctn.2_Silent_p.L673L|ZFYVE9_uc001ctp.2_Silent_p.L673L NM_004799 NP_004790 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 isoform 3 673 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity ovary(2)|lung(2)|central_nervous_system(2)|skin(2) 8 ATAATGATCTCAGAGCTGGTC 0.468 NaN 0 0 0 0.00278 0 21 126 ZCCHC11 23318 broad.mit.edu 37 1 52940613 52940613 + Missense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52940613G>T uc001ctx.2 - 13 2852 c.2618C>A c.(2617-2619)TCT>TAT p.S873Y ZCCHC11_uc001cty.2_Missense_Mutation_p.S873Y|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S873Y|ZCCHC11_uc009vze.1_Missense_Mutation_p.S873Y|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S632Y|ZCCHC11_uc001cub.2_Missense_Mutation_p.S873Y NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 873 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 GCAGTTGCAAGAGGTAGCAGA 0.413 NaN 1 0 1.58986e-06 0.008291 1.69461e-06 10 72 ZCCHC11 23318 broad.mit.edu 37 1 52940833 52940833 + Missense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52940833G>T uc001ctx.2 - 13 2632 c.2398C>A c.(2398-2400)CTT>ATT p.L800I ZCCHC11_uc001cty.2_Missense_Mutation_p.L800I|ZCCHC11_uc001ctz.2_Missense_Mutation_p.L800I|ZCCHC11_uc009vze.1_Missense_Mutation_p.L800I|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L559I|ZCCHC11_uc001cub.2_Missense_Mutation_p.L800I NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 800 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 CTGGTAGAAAGAGATGAAGAG 0.363 NaN 1 0 0.000308642 0.003163 0.000320676 13 218 ZCCHC11 23318 broad.mit.edu 37 1 52940841 52940841 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:52940841G>C uc001ctx.2 - 13 2624 c.2390C>G c.(2389-2391)TCT>TGT p.S797C ZCCHC11_uc001cty.2_Missense_Mutation_p.S797C|ZCCHC11_uc001ctz.2_Missense_Mutation_p.S797C|ZCCHC11_uc009vze.1_Missense_Mutation_p.S797C|ZCCHC11_uc009vzf.1_Missense_Mutation_p.S556C|ZCCHC11_uc001cub.2_Missense_Mutation_p.S797C NM_015269 NP_056084 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 isoform 797 miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding ovary(2)|skin(1) 3 AAGAGATGAAGAGTCCTGTCC 0.358 NaN 0 0 0 0.00245 0 13 225 EXTL2 2135 broad.mit.edu 37 1 101339508 101339508 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:101339508C>G uc001dtk.1 - 5 1320 c.983G>C c.(982-984)AGA>ACA p.R328T EXTL2_uc001dtl.1_Missense_Mutation_p.R328T|EXTL2_uc010ouk.1_Missense_Mutation_p.R315T|EXTL2_uc001dtm.1_Missense_Mutation_p.R327T NM_001439 NP_001430 Q9UBQ6 EXTL2_HUMAN exostoses-like 2 328 Lumenal (Potential). N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding skin(1) 1 all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946) Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195) TTATATTTTTCTTTTGTAGTT 0.299 NaN 0 0 0 0.010729 0 11 97 MTMR11 10903 broad.mit.edu 37 1 149906110 149906110 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:149906110G>A uc001etl.3 - 7 908 c.657C>T c.(655-657)GTC>GTT p.V219V MTMR11_uc001etm.1_Silent_p.V147V|MTMR11_uc010pbm.1_Silent_p.V191V|MTMR11_uc010pbn.1_Silent_p.V61V NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 219 Myotubularin phosphatase. phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ACCTCTCGTTGACCGTGCTGA 0.572 NaN 0 0 0 0.010729 0 12 106 PRPF3 9129 broad.mit.edu 37 1 150325402 150325402 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:150325402G>A uc001eum.3 + 16 2161 c.1999G>A c.(1999-2001)GAA>AAA p.E667K PRPF3_uc010pca.1_Missense_Mutation_p.E626K|PRPF3_uc010pcb.1_Missense_Mutation_p.E618K NM_004698 NP_004689 O43395 PRPF3_HUMAN PRP3 pre-mRNA processing factor 3 homolog 667 nuclear mRNA splicing, via spliceosome Cajal body|cytoplasm|nuclear speck|spliceosomal complex protein binding ovary(1) 1 Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) Colorectal(1306;0.0149) GCATGGGGCTGAACACTACTG 0.488 NaN 0 0 0 0.008291 0 11 135 TCHH 7062 broad.mit.edu 37 1 152082180 152082180 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:152082180G>C uc001ezp.2 - 2 3513 c.3513C>G c.(3511-3513)CGC>CGG p.R1171R TCHH_uc009wne.1_Silent_p.R1171R NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1171 4-9.|10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) cctcttcctcGCGGTATTGCC 0.179 NaN 0 0 0 0.001984 0 6 55 TCHH 7062 broad.mit.edu 37 1 152085383 152085383 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:152085383C>T uc001ezp.2 - 2 310 c.310G>A c.(310-312)GAC>AAC p.D104N TCHH_uc009wne.1_Missense_Mutation_p.D104N NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 104 keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCTTTCCGTCACACCGGGCT 0.522 NaN 0 0 0 0.010504 0 20 170 FLG 2312 broad.mit.edu 37 1 152275916 152275916 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:152275916C>G uc001ezu.1 - 3 11482 c.11446G>C c.(11446-11448)GAG>CAG p.E3816Q NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3816 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) GACTGTTCCTCATTACGTGTT 0.577 NaN Ichthyosis 0 0 0 0.00308 0 8 612 FLG 2312 broad.mit.edu 37 1 152285757 152285757 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:152285757C>T uc001ezu.1 - 3 1641 c.1605G>A c.(1603-1605)TCG>TCA p.S535S uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 535 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) ACCTATTTACCGATTGCTCGT 0.582 NaN Ichthyosis 0 0 0 0.01441 0 89 479 OR6K6 128371 broad.mit.edu 37 1 158724630 158724630 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:158724630C>G uc001fsw.1 + 1 25 c.25C>G c.(25-27)CAA>GAA p.Q9E NM_001005184 NP_001005184 Q8NGW6 OR6K6_HUMAN olfactory receptor, family 6, subfamily K, 9 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_hematologic(112;0.0378) AGTGGGTAATCAACATTCCAA 0.393 NaN 0 0 0 0.010504 0 21 128 MNDA 4332 broad.mit.edu 37 1 158813830 158813830 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:158813830G>A uc001fsz.1 + 4 688 c.488G>A c.(487-489)GGA>GAA p.G163E NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 163 B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GGTCCCTCAGGAGCCAGCACA 0.483 NaN 0 0 0 0.010729 0 10 143 KIFAP3 22920 broad.mit.edu 37 1 169993598 169993598 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:169993598C>G uc001ggv.2 - 9 1252 c.981G>C c.(979-981)TTG>TTC p.L327F KIFAP3_uc010plx.1_Missense_Mutation_p.L29F NM_014970 NP_055785 Q92845 KIFA3_HUMAN kinesin-associated protein 3 327 blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule kinesin binding skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) TGAGTTTCTTCAAGAATGACA 0.323 NaN 0 0 0 0.000602 0 4 103 FMO3 2328 broad.mit.edu 37 1 171083188 171083188 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:171083188C>T uc001ghi.2 + 7 980 c.869C>T c.(868-870)GCA>GTA p.A290V FMO3_uc001ghh.2_Missense_Mutation_p.A290V|FMO3_uc010pmb.1_Missense_Mutation_p.A270V|FMO3_uc010pmc.1_Missense_Mutation_p.A227V NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 290 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) GAGCTCCCAGCAAGCATTCTG 0.433 NaN 0 0 0 0.005443 0 26 61 CEP350 9857 broad.mit.edu 37 1 179989859 179989859 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:179989859G>A uc001gnt.2 + 12 3333 c.2950G>A c.(2950-2952)GAA>AAA p.E984K CEP350_uc009wxl.2_Missense_Mutation_p.E983K|CEP350_uc001gnu.2_Missense_Mutation_p.E818K NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 984 centrosome|nucleus|spindle ovary(4) 4 TTCAGTCAGTGAAGGGCCTCT 0.428 NaN 0 0 0 0.010729 0 11 182 CEP350 9857 broad.mit.edu 37 1 179989968 179989968 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:179989968G>C uc001gnt.2 + 12 3442 c.3059G>C c.(3058-3060)GGA>GCA p.G1020A CEP350_uc009wxl.2_Missense_Mutation_p.G1019A|CEP350_uc001gnu.2_Missense_Mutation_p.G854A NM_014810 NP_055625 Q5VT06 CE350_HUMAN centrosome-associated protein 350 1020 centrosome|nucleus|spindle ovary(4) 4 TTTTGTCCTGGAGAAAGAAAT 0.408 NaN 0 0 0 0.00308 0 8 77 HMCN1 83872 broad.mit.edu 37 1 186088322 186088322 + Splice_Site SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:186088322G>A uc001grq.1 + 78 12078 c.11849_splice c.e78-1 p.G3950_splice NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TTCATTTTTAGGAGCAATTGA 0.373 NaN 0 0 0 0.003271 0 36 109 TPR 7175 broad.mit.edu 37 1 186319407 186319407 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:186319407G>C uc001grv.2 - 21 3021 c.2724C>G c.(2722-2724)CTC>CTG p.L908L NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 908 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CCATATTACTGAGGTGCTGTT 0.318 NaN T NTRK1 papillary thyroid 0 0 0 0.012319 0 19 100 PTPRC 5788 broad.mit.edu 37 1 198701513 198701513 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:198701513C>T uc001gur.1 + 19 2233 c.2053C>T c.(2053-2055)CTT>TTT p.L685F PTPRC_uc001gus.1_Missense_Mutation_p.L637F|PTPRC_uc001gut.1_Missense_Mutation_p.L524F|PTPRC_uc009wzf.1_Missense_Mutation_p.L573F|PTPRC_uc010ppg.1_Missense_Mutation_p.L621F NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 685 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 TGTTGACATTCTTCCTTGTGA 0.358 NaN 0 0 0 0.001168 0 6 72 IL20 50604 broad.mit.edu 37 1 207039849 207039849 + Silent SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:207039849C>A uc001her.2 + 3 290 c.246C>A c.(244-246)CTC>CTA p.L82L IL20_uc010pry.1_Silent_p.L153L|IL20_uc009xby.2_Silent_p.L82L NM_018724 NP_061194 Q9NYY1 IL20_HUMAN interleukin 20 precursor 82 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding 0 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GATGCTGCCTCCTGCGCCATT 0.512 NaN 1 0 3.90053e-15 0.012213 4.22713e-15 30 541 LAMB3 3914 broad.mit.edu 37 1 209823311 209823311 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:209823311C>G uc001hhg.2 - 2 571 c.181G>C c.(181-183)GAG>CAG p.E61Q LAMB3_uc009xco.2_Missense_Mutation_p.E61Q|LAMB3_uc001hhh.2_Missense_Mutation_p.E61Q|LAMB3_uc010psl.1_RNA|LAMB3_uc009xcp.1_Missense_Mutation_p.E61Q NM_001017402 NP_001017402 Q13751 LAMB3_HUMAN laminin, beta 3 precursor 61 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity central_nervous_system(2)|skin(2)|large_intestine(1)|ovary(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGCCTACCTCGCCATACTGG 0.483 NaN 0 0 0 0.004672 0 3 55 KCNK2 3776 broad.mit.edu 37 1 215256745 215256745 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:215256745C>G uc001hkq.2 + 1 186 c.17C>G c.(16-18)TCG>TGG p.S6W KCNK2_uc001hko.2_Intron|KCNK2_uc009xdm.2_Intron|KCNK2_uc001hkp.2_Intron|KCNK2_uc010pua.1_RNA|KCNK2_uc001hkr.3_Intron NM_001017425 NP_001017425 O95069 KCNK2_HUMAN potassium channel, subfamily K, member 2 isoform 6 Cytoplasmic (Potential). outward rectifier potassium channel activity 0 OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068) Dofetilide(DB00204) CCCAGCGCCTCGCGGGAGAGA 0.547 NaN 0 0 0 0.001984 0 5 85 USH2A 7399 broad.mit.edu 37 1 215963529 215963529 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:215963529C>T uc001hku.1 - 51 10441 c.10054G>A c.(10054-10056)GAC>AAC p.D3352N NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 3352 Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GGCACCGGGTCATTCTTTTTA 0.403 NaN HNSCC(13;0.011) 0 0 0 0.00308 0 8 170 CABC1 56997 broad.mit.edu 37 1 227171276 227171276 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:227171276C>G uc001hqm.1 + 14 4523 c.1104C>G c.(1102-1104)ATC>ATG p.I368M CABC1_uc001hqn.1_Missense_Mutation_p.I368M|CABC1_uc009xeq.1_Missense_Mutation_p.I316M|CABC1_uc010pvq.1_Missense_Mutation_p.I89M|CABC1_uc010pvr.1_Missense_Mutation_p.I42M|CABC1_uc001hqo.1_Missense_Mutation_p.I89M|CABC1_uc009xer.1_Translation_Start_Site NM_020247 NP_064632 Q8NI60 ADCK3_HUMAN chaperone, ABC1 activity of bc1 complex like 368 Protein kinase. cell death mitochondrion ATP binding|protein serine/threonine kinase activity 0 Prostate(94;0.0771) CCCAGAGCATCAACAGTGATG 0.622 NaN 0 0 0 0.001168 0 6 73 COG2 22796 broad.mit.edu 37 1 230795210 230795210 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:230795210G>A uc001htw.2 + 2 224 c.73G>A c.(73-75)GAA>AAA p.E25K COG2_uc001htx.2_Missense_Mutation_p.E25K|COG2_uc010pwc.1_5'UTR NM_007357 NP_031383 Q14746 COG2_HUMAN component of oligomeric golgi complex 2 isoform 25 Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation Golgi membrane|Golgi stack|Golgi transport complex protein binding|protein transporter activity 0 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.178) TATTTTTCAGGAAGATTTCGA 0.378 NaN 0 0 0 0.006214 0 10 103 AHCTF1 25909 broad.mit.edu 37 1 247053281 247053281 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr1:247053281C>G uc001ibu.1 - 16 2138 c.2131G>C c.(2131-2133)GAG>CAG p.E711Q AHCTF1_uc001ibv.1_Missense_Mutation_p.E720Q|AHCTF1_uc009xgs.1_5'UTR NM_015446 NP_056261 Q8WYP5 ELYS_HUMAN transcription factor ELYS 711 Necessary for cytoplasmic localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding ovary(5)|skin(2) 7 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GATAAACGCTCAAACTTCTGT 0.338 NaN 0 0 0 0.012319 0 19 221 AKR1C4 1109 broad.mit.edu 37 10 5248277 5248277 + Missense_Mutation SNP A A T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:5248277A>T uc001ihw.2 + 5 520 c.487A>T c.(487-489)ATC>TTC p.I163F NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 163 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) GGCCAAGTCCATCGGGGTGTC 0.507 NaN 0 0 0 0.008291 0 11 126 UPF2 26019 broad.mit.edu 37 10 12071355 12071355 + Silent SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:12071355T>C uc001ila.2 - 2 1008 c.534A>G c.(532-534)CTA>CTG p.L178L UPF2_uc001ilb.2_Silent_p.L178L|UPF2_uc001ilc.2_Silent_p.L178L|UPF2_uc009xiz.1_Silent_p.L178L NM_080599 NP_542166 Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog 178 MIF4G 1. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding central_nervous_system(2)|ovary(1) 3 Renal(717;0.228) TAATAGTTTTTAGTTTCTTGA 0.408 NaN 0 0 0 0.01441 0 62 157 ZNF438 220929 broad.mit.edu 37 10 31138355 31138355 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:31138355C>A uc010qdz.1 - 7 1414 c.979G>T c.(979-981)GAT>TAT p.D327Y ZNF438_uc001ivn.2_Missense_Mutation_p.D278Y|ZNF438_uc010qdy.1_Missense_Mutation_p.D317Y|ZNF438_uc001ivo.3_5'UTR|ZNF438_uc009xlg.2_Missense_Mutation_p.D327Y|ZNF438_uc001ivp.3_Missense_Mutation_p.D317Y|ZNF438_uc010qea.1_Missense_Mutation_p.D327Y|ZNF438_uc010qeb.1_Missense_Mutation_p.D327Y|ZNF438_uc010qec.1_5'UTR NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 327 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) GGTATCTTATCACAGTCGGCC 0.468 NaN 1 0 0.00829132 0.008291 0.00853629 11 167 ALOX5 240 broad.mit.edu 37 10 45907638 45907638 + Splice_Site SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:45907638G>A uc001jce.2 + 4 531 c.432_splice c.e4-1 p.R144_splice ALOX5_uc009xmt.2_Splice_Site_p.R144_splice|ALOX5_uc010qfg.1_Splice_Site_p.R144_splice NM_000698 NP_000689 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding ovary(1)|pancreas(1) 2 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) CTCATGCTCAGATGGATGGAG 0.512 NaN 0 0 0 0.012319 0 23 66 CHAT 1103 broad.mit.edu 37 10 50857602 50857602 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:50857602C>T uc001jhz.2 + 10 1584 c.1431C>T c.(1429-1431)CTC>CTT p.L477L CHAT_uc001jhv.1_Silent_p.L359L|CHAT_uc001jhx.1_Silent_p.L359L|CHAT_uc001jhy.1_Silent_p.L359L|CHAT_uc001jia.2_Silent_p.L359L|CHAT_uc010qgs.1_Silent_p.L359L NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 477 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) TCAGCGAGCTCCCCGCCCCCC 0.617 NaN 0 0 0 0.009096 0 4 69 PCDH15 65217 broad.mit.edu 37 10 55600095 55600095 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:55600095C>G uc001jju.1 - 29 4363 c.3968G>C c.(3967-3969)AGA>ACA p.R1323T PCDH15_uc010qhq.1_Missense_Mutation_p.R1328T|PCDH15_uc010qhr.1_Missense_Mutation_p.R1323T|PCDH15_uc010qhs.1_Missense_Mutation_p.R1335T|PCDH15_uc010qht.1_Missense_Mutation_p.R1330T|PCDH15_uc010qhu.1_Missense_Mutation_p.R1323T|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.R1323T|PCDH15_uc010qhw.1_Missense_Mutation_p.R1286T|PCDH15_uc010qhx.1_Missense_Mutation_p.R1252T|PCDH15_uc010qhy.1_Missense_Mutation_p.R1328T|PCDH15_uc010qhz.1_Missense_Mutation_p.R1323T|PCDH15_uc010qia.1_Missense_Mutation_p.R1301T|PCDH15_uc010qib.1_Missense_Mutation_p.R1301T NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 1323 Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) AAGCTCATTTCTATCGATGGC 0.408 NaN HNSCC(58;0.16) 0 0 0 0.011902 0 44 117 CTNNA3 29119 broad.mit.edu 37 10 68040318 68040318 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:68040318C>T uc009xpn.1 - 13 1917 c.1794G>A c.(1792-1794)TTG>TTA p.L598L CTNNA3_uc001jmw.2_Silent_p.L598L NM_001127384 NP_001120856 Q9UI47 CTNA3_HUMAN catenin, alpha 3 598 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1) 8 CCAACACATTCAATGAGCTTT 0.343 NaN 0 0 0 0.008291 0 11 140 CCDC109A 90550 broad.mit.edu 37 10 74619017 74619017 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:74619017C>G uc001jtc.2 + 3 324 c.303C>G c.(301-303)CTC>CTG p.L101L CCDC109A_uc009xqp.1_RNA|CCDC109A_uc009xqq.1_RNA|CCDC109A_uc010qjy.1_RNA|CCDC109A_uc009xqr.2_Silent_p.L101L|CCDC109A_uc001jtd.2_Silent_p.L52L NM_138357 NP_612366 Q8NE86 MCU_HUMAN coiled-coil domain containing 109A 101 Mitochondrial matrix (Potential). elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization integral to membrane|mitochondrial inner membrane protein binding 0 Prostate(51;0.0198) AGTTCACACTCAAGCCTATCT 0.443 NaN 0 0 0 0.006214 0 10 194 MYST4 23522 broad.mit.edu 37 10 76744917 76744917 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:76744917A>G uc001jwn.1 + 12 2946 c.2453A>G c.(2452-2454)TAT>TGT p.Y818C MYST4_uc001jwm.1_Missense_Mutation_p.Y526C|MYST4_uc001jwo.1_Missense_Mutation_p.Y526C|MYST4_uc001jwp.1_Missense_Mutation_p.Y635C NM_012330 NP_036462 Q8WYB5 MYST4_HUMAN MYST histone acetyltransferase (monocytic 818 Catalytic.|Interaction with BRPF1. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|breast(2)|skin(1)|prostate(1) 16 all_cancers(46;0.0347)|all_epithelial(25;0.00236)|Prostate(51;0.0112)|Ovarian(15;0.0964) AAAACGTTGTATTATGATGTC 0.383 NaN T CREBBP AML 0 0 0 0.004007 0 16 101 ANXA11 311 broad.mit.edu 37 10 81929059 81929059 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:81929059C>T uc001kbq.1 - 6 1052 c.227G>A c.(226-228)GGG>GAG p.G76E ANXA11_uc010qlx.1_Missense_Mutation_p.G176E|ANXA11_uc001kbr.1_Missense_Mutation_p.G76E|ANXA11_uc001kbs.1_Missense_Mutation_p.G76E|ANXA11_uc001kbt.1_Missense_Mutation_p.G76E|ANXA11_uc010qly.1_Missense_Mutation_p.G43E|ANXA11_uc009xsq.1_Missense_Mutation_p.G76E|ANXA11_uc001kbu.1_Missense_Mutation_p.G76E NM_145869 NP_665876 P50995 ANX11_HUMAN annexin A11 76 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding ovary(1) 1 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) CCCAGGGGCCCCAGGGTACAG 0.652 NaN 0 0 0 0.001168 0 5 13 C10orf78 119392 broad.mit.edu 37 10 105882813 105882813 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:105882813C>T uc001kxu.2 + 2 117 c.104C>T c.(103-105)TCA>TTA p.S35L C10orf78_uc001kxs.2_Missense_Mutation_p.S22L|C10orf78_uc001kxt.2_5'UTR|C10orf78_uc001kxv.2_Missense_Mutation_p.S97L NM_001002759 NP_001002759 Q86XK3 SFR1_HUMAN hypothetical protein LOC119392 isoform a 35 double-strand break repair via homologous recombination Swi5-Sfr1 complex protein binding 0 Colorectal(252;0.102)|Breast(234;0.122) Epithelial(162;1.31e-09)|all cancers(201;3.84e-08)|BRCA - Breast invasive adenocarcinoma(275;0.014) GCGAATCCATCATCTCCCTAT 0.398 NaN 0 0 0 0.009718 0 44 92 NRAP 4892 broad.mit.edu 37 10 115355468 115355468 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:115355468C>T uc001laj.2 - 38 4614 c.4450G>A c.(4450-4452)GAT>AAT p.D1484N NRAP_uc009xyb.2_Missense_Mutation_p.D273N|NRAP_uc001lak.2_Missense_Mutation_p.D1449N|NRAP_uc001lal.3_Missense_Mutation_p.D1484N NM_198060 NP_932326 Q86VF7 NRAP_HUMAN nebulin-related anchoring protein isoform S 1484 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding ovary(6)|central_nervous_system(3)|upper_aerodigestive_tract(1) 10 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) GATTCTGCATCTCCAGATCTA 0.512 NaN 0 0 0 0.008291 0 10 144 FAM45A 404636 broad.mit.edu 37 10 120879939 120879939 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:120879939A>G uc001ldw.2 + 5 612 c.568A>G c.(568-570)ATA>GTA p.I190V FAM45A_uc010qsv.1_Missense_Mutation_p.I182V|FAM45A_uc010qsw.1_Missense_Mutation_p.I39V|FAM45A_uc010qsx.1_Intron|FAM45A_uc010qsy.1_Missense_Mutation_p.I117V|FAM45A_uc010qsz.1_Missense_Mutation_p.I79V NM_207009 NP_996892 Q8TCE6 FA45A_HUMAN hypothetical protein LOC404636 190 ovary(1) 1 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0293) TCACCCCAAGATAGAAGCGGT 0.398 NaN 0 0 0 0.001168 0 5 77 BAG3 9531 broad.mit.edu 37 10 121431904 121431904 + Silent SNP C C T rs138078305 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:121431904C>T uc001lem.2 + 3 951 c.645C>T c.(643-645)AAC>AAT p.N215N BAG3_uc001lel.2_Silent_p.N215N NM_004281 NP_004272 O95817 BAG3_HUMAN BCL2-associated athanogene 3 215 anti-apoptosis|apoptosis|protein folding cytosol ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) ACGAGCAGAACGTTACCCGGC 0.652 NaN 0 0 0 0.010504 0 22 70 MKI67 4288 broad.mit.edu 37 10 129905874 129905874 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr10:129905874G>A uc001lke.2 - 13 4425 c.4230C>T c.(4228-4230)CTC>CTT p.L1410L MKI67_uc001lkf.2_Silent_p.L1050L|MKI67_uc009yav.1_Silent_p.L985L|MKI67_uc009yaw.1_Silent_p.L560L NM_002417 NP_002408 P46013 KI67_HUMAN antigen identified by monoclonal antibody Ki-67 1410 16 X 122 AA approximate repeats.|4. cell proliferation nucleolus ATP binding|protein C-terminus binding ovary(4)|central_nervous_system(2)|skin(1) 7 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) ATGTCTGTGTGAGCTTCTTCA 0.498 NaN 0 0 0 0.013114 0 43 317 OR51B6 390058 broad.mit.edu 37 11 5372785 5372785 + Silent SNP A A C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:5372785A>C uc010qzb.1 + 1 48 c.48A>C c.(46-48)CCA>CCC p.P16P HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004750 NP_001004750 Q9H340 O51B6_HUMAN olfactory receptor, family 51, subfamily B, 16 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGCTTCCCAGGCATGGAGA 0.453 NaN 0 0 0 0.004482 0 6 39 MICAL2 9645 broad.mit.edu 37 11 12248645 12248645 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:12248645C>G uc001mjz.2 + 15 2250 c.1962C>G c.(1960-1962)CTC>CTG p.L654L MICAL2_uc010rch.1_Silent_p.L654L|MICAL2_uc001mka.2_Silent_p.L654L|MICAL2_uc010rci.1_Silent_p.L654L|MICAL2_uc001mkb.2_Silent_p.L654L|MICAL2_uc001mkc.2_Silent_p.L654L|MICAL2_uc001mkd.2_Silent_p.L483L|MICAL2_uc010rcj.1_Silent_p.L56L NM_014632 NP_055447 O94851 MICA2_HUMAN microtubule associated monoxygenase, calponin 654 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding upper_aerodigestive_tract(2) 2 Epithelial(150;0.00552) ATAACTATCTCAACCTCACAT 0.443 NaN 0 0 0 0.013537 0 12 58 COPB1 1315 broad.mit.edu 37 11 14502617 14502617 + Silent SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:14502617T>C uc001mli.2 - 9 1291 c.984A>G c.(982-984)GTA>GTG p.V328V COPB1_uc001mlg.2_Silent_p.V328V|COPB1_uc001mlh.2_Silent_p.V328V NM_016451 NP_057535 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 328 HEAT 5. COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity ovary(1)|central_nervous_system(1) 2 GTGTGCTCAATACTCTTAGGA 0.363 NaN 0 0 0 0.008871 0 19 141 GTF2H1 2965 broad.mit.edu 37 11 18361114 18361114 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:18361114G>A uc001moi.2 + 6 1211 c.517G>A c.(517-519)GAT>AAT p.D173N GTF2H1_uc001moh.2_Missense_Mutation_p.D173N|GTF2H1_uc009yhm.2_Missense_Mutation_p.D57N NM_001142307 NP_001135779 P32780 TF2H1_HUMAN general transcription factor IIH, polypeptide 1, 173 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex protein binding 0 GTTTTAGGCTGATGTCCGGCC 0.423 NaN NER 0 0 0 0.008291 0 9 92 CCDC34 91057 broad.mit.edu 37 11 27384539 27384539 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:27384539G>C uc001mrh.1 - 1 257 c.203C>G c.(202-204)TCT>TGT p.S68C CCDC34_uc001mri.1_Missense_Mutation_p.S68C NM_030771 NP_110398 Q96HJ3 CCD34_HUMAN coiled-coil domain containing 34 isoform 1 68 0 GCCAAGGGGAGACAACAGCGA 0.637 NaN 0 0 0 0.001984 0 7 95 METT5D1 196074 broad.mit.edu 37 11 28232683 28232683 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:28232683C>G uc001msh.2 + 4 800 c.345C>G c.(343-345)CTC>CTG p.L115L METT5D1_uc001msg.2_Silent_p.L115L|METT5D1_uc001mse.2_Silent_p.L115L NM_001113528 NP_001107000 A6NJ78 MET15_HUMAN methyltransferase 5 domain containing 1 isoform 115 methyltransferase activity 0 ATATTGTTCTCTATGCCTTGG 0.378 NaN 0 0 0 0.001168 0 6 103 EIF3M 10480 broad.mit.edu 37 11 32622318 32622318 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:32622318G>C uc001mtu.2 + 9 926 c.883G>C c.(883-885)GAC>CAC p.D295H EIF3M_uc010ref.1_Missense_Mutation_p.D163H NM_006360 NP_006351 Q7L2H7 EIF3M_HUMAN eukaryotic translation initiation factor 3, 295 PCI. eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity ovary(1)|breast(1)|skin(1) 3 Breast(20;0.109) AATTTCTTTTGACACAATGCA 0.343 NaN 0 0 0 0.006122 0 17 156 PRPF19 27339 broad.mit.edu 37 11 60671325 60671325 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:60671325C>T uc001nqf.2 - 2 235 c.28G>A c.(28-30)GAA>AAA p.E10K NM_014502 NP_055317 Q9UMS4 PRP19_HUMAN PRP19/PSO4 pre-mRNA processing factor 19 10 U-box. DNA repair|protein polyubiquitination|spliceosome assembly catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity ovary(1) 1 TCCGGCACTTCGTTAGAGACT 0.507 NaN 0 0 0 0.008871 0 18 99 SYT7 9066 broad.mit.edu 37 11 61291406 61291406 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:61291406C>T uc001nrv.2 - 7 806 c.800G>A c.(799-801)CGA>CAA p.R267Q SYT7_uc009ynr.2_Missense_Mutation_p.R342Q NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 267 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 CAGCTCCCCTCGGCTCCCCTG 0.607 NaN 0 0 0 0.00245 0 13 205 CD248 57124 broad.mit.edu 37 11 66082774 66082774 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:66082774G>A uc001ohm.1 - 1 1742 c.1725C>T c.(1723-1725)CTC>CTT p.L575L NM_020404 NP_065137 Q9HCU0 CD248_HUMAN tumor endothelial marker 1 precursor 575 Pro-rich.|Extracellular (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding large_intestine(3) 3 Cefalotin(DB00456) CCTGGGTTCTGAGGACAAGGG 0.607 NaN 0 0 0 0.00333 0 23 143 B3GNT1 11041 broad.mit.edu 37 11 66113603 66113603 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:66113603C>T uc001ohr.2 - 2 1310 c.1165G>A c.(1165-1167)GAA>AAA p.E389K BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank NM_006876 NP_006867 O43505 B3GN1_HUMAN UDP-GlcNAc:betaGal 389 Lumenal (Potential). poly-N-acetyllactosamine biosynthetic process integral to Golgi membrane N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity 0 TGCTGATTTTCAGCCTCCTTT 0.502 NaN 0 0 0 0.01441 0 77 140 SHANK2 22941 broad.mit.edu 37 11 70319029 70319029 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:70319029C>T uc001oqc.2 - 22 5573 c.5495G>A c.(5494-5496)CGA>CAA p.R1832Q SHANK2_uc010rqn.1_Missense_Mutation_p.R1244Q|SHANK2_uc001opz.2_Missense_Mutation_p.R1237Q|uc009ysn.1_5'UTR|SHANK2_uc001opy.2_Missense_Mutation_p.R168Q NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 1453 SAM. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) GTGCCCGACTCGAGTTACCCC 0.488 NaN 0 0 0 0.01441 0 74 180 SYTL2 54843 broad.mit.edu 37 11 85447612 85447612 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:85447612G>A uc010rth.1 - 5 791 c.515C>T c.(514-516)TCA>TTA p.S172L SYTL2_uc010rtg.1_Missense_Mutation_p.S173L|SYTL2_uc010rti.1_Missense_Mutation_p.S172L|SYTL2_uc010rtj.1_Missense_Mutation_p.S124L|SYTL2_uc001pbf.3_Missense_Mutation_p.S172L|SYTL2_uc010rtf.1_Missense_Mutation_p.S30L NM_001162951 NP_001156423 Q9HCH5 SYTL2_HUMAN synaptotagmin-like 2 isoform g 172 intracellular protein transport|vesicle docking involved in exocytosis exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding ovary(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033) KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237) TTGTTGTGATGAGTGACCTTC 0.313 NaN 0 0 0 0.000602 0 4 70 C11orf73 51501 broad.mit.edu 37 11 86048472 86048472 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:86048472C>G uc001pbu.2 + 3 558 c.320C>G c.(319-321)TCT>TGT p.S107C C11orf73_uc001pbt.2_Missense_Mutation_p.S107C|C11orf73_uc010rto.1_RNA|C11orf73_uc010rtp.1_Missense_Mutation_p.S8C|C11orf73_uc001pbv.2_RNA NM_016401 NP_057485 Q53FT3 CK073_HUMAN lethal, Chr 7, Rinchik 6 107 cytoplasm 0 Acute lymphoblastic leukemia(157;1.17e-07)|all_hematologic(158;0.000556) CGAACTCCATCTGTTGCTCAG 0.403 NaN 0 0 0 0.01441 0 51 272 FAT3 120114 broad.mit.edu 37 11 92533128 92533128 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:92533128G>C uc001pdj.3 + 9 6966 c.6949G>C c.(6949-6951)GAA>CAA p.E2317Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2317 Cadherin 21.|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) TGCAGACTCAGAAAACAATAA 0.388 NaN TCGA Ovarian(4;0.039) 0 0 0 0.000602 0 5 39 MMP27 64066 broad.mit.edu 37 11 102564639 102564639 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:102564639C>G uc001phd.1 - 8 1214 c.1191G>C c.(1189-1191)TGG>TGC p.W397C NM_022122 NP_071405 Q9H306 MMP27_HUMAN matrix metalloproteinase 27 precursor 397 Hemopexin-like 3. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) AAACTTACCTCCAGCACCAAA 0.353 NaN 0 0 0 0.000602 0 4 169 DYNC2H1 79659 broad.mit.edu 37 11 103086469 103086469 + Missense_Mutation SNP A A C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:103086469A>C uc001pho.2 + 55 8858 c.8714A>C c.(8713-8715)AAT>ACT p.N2905T DYNC2H1_uc001phn.1_Missense_Mutation_p.N2905T|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 2905 Potential.|Stalk (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) TCTAAACTAAATGAAGCTAAA 0.343 NaN 0 0 0 0.004672 0 3 19 CARD16 114769 broad.mit.edu 37 11 104915124 104915124 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:104915124G>A uc001pip.1 - 2 296 c.269C>T c.(268-270)TCA>TTA p.S90L CASP1_uc010rve.1_Intron|CASP1_uc010rvf.1_Intron|CASP1_uc010rvg.1_Intron|CASP1_uc010rvh.1_Intron|CASP1_uc010rvi.1_Intron|CARD16_uc001pio.1_Missense_Mutation_p.S90L NM_001017534 NP_001017534 Q5EG05 CAR16_HUMAN caspase-1 dominant-negative inhibitor pseudo-ICE 90 CARD. regulation of apoptosis intracellular cysteine-type endopeptidase inhibitor activity skin(1) 1 CTTACCTGCTGAGAGTCCCAG 0.453 NaN 0 0 0 0.01441 0 50 138 MLL 4297 broad.mit.edu 37 11 118374132 118374132 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:118374132G>C uc001pta.2 + 27 7539 c.7516G>C c.(7516-7518)GAA>CAA p.E2506Q MLL_uc001ptb.2_Missense_Mutation_p.E2509Q NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2506 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) CATGCAAGTAGAAGGATCTGC 0.448 NaN T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL 0 0 0 0.006214 0 9 72 OR4D5 219875 broad.mit.edu 37 11 123810416 123810416 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:123810416C>A uc001pzk.1 + 1 93 c.93C>A c.(91-93)TTC>TTA p.F31L NM_001001965 NP_001001965 Q8NGN0 OR4D5_HUMAN olfactory receptor, family 4, subfamily D, 31 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCACTGTTTTCTCTGCTGTGT 0.463 NaN 1 0 4.96729e-08 0.008871 5.34485e-08 19 154 OR10G8 219869 broad.mit.edu 37 11 123900608 123900608 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:123900608C>T uc001pzp.1 + 1 279 c.279C>T c.(277-279)TTC>TTT p.F93F NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 93 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) CTATCTCCTTCCACAGCTGCA 0.522 NaN 0 0 0 0.008291 0 9 134 KCNJ5 3762 broad.mit.edu 37 11 128781390 128781390 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr11:128781390G>C uc001qet.2 + 2 536 c.222G>C c.(220-222)CTG>CTC p.L74L KCNJ5_uc009zck.2_Silent_p.L74L|KCNJ5_uc001qew.2_Silent_p.L74L NM_000890 NP_000881 P48544 IRK5_HUMAN potassium inwardly-rectifying channel J5 74 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding skin(1) 1 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) ACCGGTACCTGAGTGACCTCT 0.577 NaN 0 0 0 0.001168 0 4 134 FOXM1 2305 broad.mit.edu 37 12 2968590 2968590 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:2968590C>G uc001qlf.2 - 9 1771 c.1506G>C c.(1504-1506)TGG>TGC p.W502C uc001qld.2_Intron|FOXM1_uc001qle.2_Missense_Mutation_p.W540C|FOXM1_uc001qlg.2_Missense_Mutation_p.W487C|FOXM1_uc009zea.2_Missense_Mutation_p.W487C|FOXM1_uc009zeb.2_Missense_Mutation_p.W486C NM_021953 NP_068772 Q08050 FOXM1_HUMAN forkhead box M1 isoform 2 502 Glu/Pro/Ser/Thr-rich. cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis cytoplasm|transcription factor complex DNA bending activity|DNA binding|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding central_nervous_system(1)|skin(1) 2 OV - Ovarian serous cystadenocarcinoma(31;0.000622) ACGAATCCTCCCAGGAGTGAG 0.547 NaN 0 0 0 0.001168 0 5 201 CHD4 1108 broad.mit.edu 37 12 6680126 6680126 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:6680126C>T uc001qpo.2 - 39 5794 c.5630G>A c.(5629-5631)CGA>CAA p.R1877Q CHD4_uc001qpn.2_Missense_Mutation_p.R1870Q|CHD4_uc001qpp.2_Missense_Mutation_p.R1902Q|NOP2_uc001qph.1_5'Flank|NOP2_uc001qpi.1_5'Flank|NOP2_uc001qpj.1_5'Flank|NOP2_uc001qpk.1_5'Flank|NOP2_uc001qpl.1_5'Flank|NOP2_uc001qpm.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1877 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TGGGGGAATTCGGGCAATGGT 0.537 NaN 0 0 0 0.01441 0 54 333 CHD4 1108 broad.mit.edu 37 12 6686986 6686986 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:6686986C>G uc001qpo.2 - 37 5490 c.5326G>C c.(5326-5328)GAG>CAG p.E1776Q CHD4_uc001qpn.2_Missense_Mutation_p.E1769Q|CHD4_uc001qpp.2_Missense_Mutation_p.E1801Q|uc001qpq.1_5'Flank NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 1776 Required for interaction with PCNT. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 TTCTTGATCTCTAAGAAATTG 0.463 NaN 0 0 0 0.001855 0 11 163 ABCC9 10060 broad.mit.edu 37 12 22015985 22015985 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:22015985C>T uc001rfi.1 - 18 2261 c.2241G>A c.(2239-2241)AGG>AGA p.R747R ABCC9_uc001rfh.2_Silent_p.R747R|ABCC9_uc001rfj.1_Silent_p.R711R NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 747 Cytoplasmic (Potential).|ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) AGTACCTGTTCCTACTGAAAA 0.323 NaN 0 0 0 0.000602 0 5 74 ADAMTS20 80070 broad.mit.edu 37 12 43826585 43826585 + Nonsense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:43826585G>T uc010skx.1 - 20 2750 c.2750C>A c.(2749-2751)TCA>TAA p.S917* ADAMTS20_uc001rno.1_Nonsense_Mutation_p.S71*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.S71* NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 917 TSP type-1 3. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) ACATTGGGATGAACATTCACT 0.368 NaN 1 0 0.000673444 0.008291 0.000696507 10 187 BAZ2A 11176 broad.mit.edu 37 12 56995427 56995427 + Nonsense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:56995427G>C uc001slq.1 - 20 4174 c.3980C>G c.(3979-3981)TCA>TGA p.S1327* BAZ2A_uc001slp.1_Nonsense_Mutation_p.S1325*|BAZ2A_uc001slo.1_Nonsense_Mutation_p.S155*|BAZ2A_uc009zov.1_Nonsense_Mutation_p.S297*|BAZ2A_uc009zow.1_Nonsense_Mutation_p.S1295* NM_013449 NP_038477 Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 1327 Pro-rich. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding 0 CATCTGGGCTGAGATGTTAAA 0.602 NaN 0 0 0 0.01441 0 51 118 FGD6 55785 broad.mit.edu 37 12 95604045 95604045 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:95604045C>T uc001tdp.3 - 2 1239 c.1015G>A c.(1015-1017)GAA>AAA p.E339K FGD6_uc009zsx.2_Intron NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 339 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(2)|breast(1) 3 CCCGGTTCTTCAGTGCTTTCA 0.408 NaN 0 0 0 0.012319 0 19 235 C12orf48 55010 broad.mit.edu 37 12 102572447 102572447 + Silent SNP C C T rs146074209 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:102572447C>T uc001tjf.2 + 8 1195 c.1083C>T c.(1081-1083)GAC>GAT p.D361D C12orf48_uc001tjg.2_Silent_p.D280D|C12orf48_uc010swa.1_Silent_p.D438D|C12orf48_uc001tjh.2_Silent_p.D280D|C12orf48_uc010swb.1_Intron|C12orf48_uc009zuc.2_Intron|C12orf48_uc001tjj.2_Silent_p.D76D|C12orf48_uc001tjk.2_Intron|C12orf48_uc009zud.2_Intron NM_017915 NP_060385 Q9NWS1 PR1BP_HUMAN hypothetical protein LOC55010 361 response to DNA damage stimulus cytoplasm|nucleus DNA binding 0 TTCTTTTGGACGAAGAAGCAG 0.368 NaN 0 0 0 0.000602 0 4 87 CKAP4 10970 broad.mit.edu 37 12 106632982 106632982 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:106632982G>A uc001tlk.2 - 2 1713 c.1629C>T c.(1627-1629)GTC>GTT p.V543V NM_006825 NP_006816 Q07065 CKAP4_HUMAN cytoskeleton-associated protein 4 543 Potential. ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction 0 CCACTTGGCTGACTGAGGCTT 0.527 NaN 0 0 0 0.005443 0 29 128 SSH1 54434 broad.mit.edu 37 12 109182345 109182345 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:109182345C>T uc001tnm.2 - 15 2656 c.2569G>A c.(2569-2571)GAG>AAG p.E857K SSH1_uc001tnl.2_Missense_Mutation_p.E545K NM_018984 NP_061857 Q8WYL5 SSH1_HUMAN slingshot 1 isoform 1 857 actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(4) 4 TGGCTCTCCTCGGGGATGCTG 0.667 NaN 0 0 0 0.009096 0 4 36 KSR2 283455 broad.mit.edu 37 12 117923470 117923470 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:117923470G>C uc001two.2 - 15 2214 c.2159C>G c.(2158-2160)TCC>TGC p.S720C NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 749 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCTCACAACGGAATAGAGCGT 0.448 NaN 0 0 0 0.003163 0 16 80 GPR133 283383 broad.mit.edu 37 12 131484985 131484985 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:131484985G>C uc001uit.3 + 9 1583 c.1024G>C c.(1024-1026)GAG>CAG p.E342Q GPR133_uc010tbm.1_Missense_Mutation_p.E374Q NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 342 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) TGCTCTGTCAGAGGTAAGAGA 0.279 NaN 0 0 0 0.00245 0 11 93 GPR133 283383 broad.mit.edu 37 12 131488789 131488789 + Silent SNP G G A rs73473278 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr12:131488789G>A uc001uit.3 + 11 1762 c.1203G>A c.(1201-1203)CCG>CCA p.P401P GPR133_uc010tbm.1_Silent_p.P433P NM_198827 NP_942122 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 precursor 401 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity pancreas(5)|ovary(3)|skin(2) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) ACCGCTTCCCGGCCCACGGGC 0.632 NaN 0 0 0 0.001984 0 5 32 TPTE2 93492 broad.mit.edu 37 13 20048070 20048070 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:20048070G>C uc001umd.2 - 7 587 c.376C>G c.(376-378)CGA>GGA p.R126G TPTE2_uc009zzk.2_Intron|TPTE2_uc009zzl.2_Intron|TPTE2_uc001ume.2_Missense_Mutation_p.R89G|TPTE2_uc009zzm.2_5'UTR|TPTE2_uc010tcm.1_RNA NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN TPTE and PTEN homologous inositol lipid 126 Helical; (Potential). endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity 0 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) ACAAATACTCGAAGAAGAACA 0.259 NaN 0 0 0 0.004482 0 9 76 SLC7A1 6541 broad.mit.edu 37 13 30106971 30106971 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:30106971G>C uc001uso.2 - 4 906 c.519C>G c.(517-519)CTC>CTG p.L173L NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 173 Helical; (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CTGTCAAGATGAGAATTATGA 0.493 NaN 0 0 0 0.006214 0 7 100 C13orf26 122046 broad.mit.edu 37 13 31543165 31543165 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:31543165C>T uc001uti.2 + 6 809 c.790C>T c.(790-792)CAG>TAG p.Q264* NM_152325 NP_689538 Q8N6G2 CM026_HUMAN hypothetical protein LOC122046 264 ovary(2)|skin(1) 3 Lung SC(185;0.0281) all cancers(112;0.0176)|Epithelial(112;0.0768)|OV - Ovarian serous cystadenocarcinoma(117;0.0852) AGAGTACCTTCAGAGTCTTTC 0.368 NaN 0 0 0 0.00308 0 7 129 BRCA2 675 broad.mit.edu 37 13 32914961 32914961 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:32914961C>T uc001uub.1 + 11 6696 c.6469C>T c.(6469-6471)CAA>TAA p.Q2157* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2157 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATATCTCTCTCAATTTCAACA 0.318 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.008871 0 21 52 NAA16 79612 broad.mit.edu 37 13 41910844 41910844 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:41910844C>T uc001uyf.2 + 9 1290 c.966C>T c.(964-966)TGC>TGT p.C322C NAA16_uc010tfg.1_Intron|NAA16_uc001uye.3_Silent_p.C322C|NAA16_uc001uyd.3_Intron NM_024561 NP_078837 Q6N069 NAA16_HUMAN NMDA receptor regulated 1-like protein isoform 322 N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent cytoplasm|transcription factor complex binding central_nervous_system(1) 1 GTAAAGGCTGCCCACCCTTGT 0.318 NaN 0 0 0 0.004482 0 7 100 NALCN 259232 broad.mit.edu 37 13 101944589 101944589 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:101944589C>T uc001vox.1 - 8 1117 c.928G>A c.(928-930)GCC>ACC p.A310T NALCN_uc001voy.2_Missense_Mutation_p.A25T|NALCN_uc001voz.2_Missense_Mutation_p.A310T|NALCN_uc001vpa.2_Missense_Mutation_p.A310T NM_052867 NP_443099 Q8IZF0 NALCN_HUMAN voltage gated channel like 1 310 Helical; Name=S6 of repeat I; (Potential). integral to membrane sodium channel activity|voltage-gated ion channel activity ovary(8)|breast(4)|skin(2)|pancreas(1)|central_nervous_system(1) 16 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) ACAAGCCAGGCGAGGAAGAAA 0.458 NaN 0 0 0 0.010729 0 10 38 C13orf27 93081 broad.mit.edu 37 13 103419691 103419691 + Nonsense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr13:103419691C>A uc001vpo.2 - 5 614 c.436G>T c.(436-438)GAA>TAA p.E146* C13orf27_uc001vpn.2_Nonsense_Mutation_p.E105*|C13orf27_uc001vpp.2_Nonsense_Mutation_p.E105* NM_138779 NP_620134 Q5JUR7 CM027_HUMAN hypothetical protein LOC93081 146 0 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) AAGAGGTCTTCATCTCTGAGT 0.408 NaN 1 0 0.00307968 0.00308 0.00317789 6 155 SALL2 6297 broad.mit.edu 37 14 21993519 21993519 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:21993519C>T uc001wbe.2 - 2 625 c.343G>A c.(343-345)GAG>AAG p.E115K SALL2_uc010tly.1_Missense_Mutation_p.E113K|SALL2_uc010tlz.1_Missense_Mutation_p.E113K|SALL2_uc001wbf.3_Missense_Mutation_p.E113K|SALL2_uc010tma.1_Missense_Mutation_p.E115K|SALL2_uc001wbg.1_Missense_Mutation_p.E115K NM_005407 NP_005398 Q9Y467 SALL2_HUMAN sal-like 2 115 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|large_intestine(1) 3 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTCTCCTCTCTGGGCCCCAG 0.642 NaN 0 0 0 0.000602 0 5 74 PRKD1 5587 broad.mit.edu 37 14 30105594 30105594 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:30105594C>A uc001wqh.2 - 7 1273 c.1092G>T c.(1090-1092)ATG>ATT p.M364I NM_002742 NP_002733 Q15139 KPCD1_HUMAN protein kinase D1 364 cell proliferation|intracellular signal transduction|sphingolipid metabolic process cytosol|integral to plasma membrane ATP binding|metal ion binding|protein binding|protein kinase C activity lung(3)|large_intestine(2)|ovary(2)|skin(1) 8 Hepatocellular(127;0.0604) LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252) GBM - Glioblastoma multiforme(265;0.00888) CATCTTGGACCATTGCTTCTT 0.517 NaN 1 0 8.00594e-06 0.007413 8.47358e-06 17 151 ARHGAP5 394 broad.mit.edu 37 14 32560932 32560932 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:32560932C>G uc001wrl.2 + 2 1296 c.1057C>G c.(1057-1059)CTA>GTA p.L353V ARHGAP5_uc001wrm.2_Missense_Mutation_p.L353V|ARHGAP5_uc001wrn.2_Missense_Mutation_p.L353V|ARHGAP5_uc001wro.2_Intron|ARHGAP5_uc001wrp.2_Intron NM_001173 NP_001025226 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 isoform b 353 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding ovary(4)|central_nervous_system(1) 5 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) TTTGCCAAATCTAGAAGAGAT 0.323 NaN 0 0 0 0.00499 0 18 173 BAZ1A 11177 broad.mit.edu 37 14 35228028 35228028 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:35228028C>T uc001wsk.2 - 25 4836 c.4268G>A c.(4267-4269)CGA>CAA p.R1423Q BAZ1A_uc001wsl.2_Missense_Mutation_p.R1391Q NM_013448 NP_038476 Q9NRL2 BAZ1A_HUMAN bromodomain adjacent to zinc finger domain, 1A 1423 chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent ACF complex zinc ion binding p.R1423fs*21(1) lung(2)|central_nervous_system(2)|ovary(1)|breast(1)|skin(1) 7 Breast(36;0.0388)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175) GBM - Glioblastoma multiforme(112;0.0659) AGAACTCCTTCGACCCAGTGT 0.408 NaN 0 0 0 0.001984 0 7 73 RALGAPA1 253959 broad.mit.edu 37 14 36230213 36230213 + Splice_Site SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:36230213C>A uc001wti.2 - 6 761 c.370_splice c.e6-1 p.I124_splice RALGAPA1_uc001wtj.2_Splice_Site_p.I124_splice|RALGAPA1_uc010tpv.1_Splice_Site_p.I124_splice|RALGAPA1_uc010tpw.1_Splice_Site_p.I124_splice|RALGAPA1_uc001wtk.1_Splice_Site NM_014990 NP_055805 Q6GYQ0 RGPA1_HUMAN Ral GTPase activating protein, alpha subunit 1 activation of Ral GTPase activity cytosol|mitochondrion|nucleus protein heterodimerization activity|Ral GTPase activator activity ovary(3)|breast(1) 4 CCCGCCTAATCTAAAATAAAA 0.323 NaN 1 0 0.000602214 0.000602 0.000624263 5 35 KLHDC2 23588 broad.mit.edu 37 14 50246473 50246473 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:50246473G>C uc001wwx.2 + 8 1122 c.722G>C c.(721-723)AGA>ACA p.R241T SDCCAG1_uc010anj.1_Intron|KLHDC2_uc001wwy.2_Missense_Mutation_p.R241T|KLHDC2_uc010anp.2_Missense_Mutation_p.R241T NM_014315 NP_055130 Q9Y2U9 KLDC2_HUMAN kelch domain containing 2 241 Kelch 4. nucleus protein binding ovary(1) 1 all_epithelial(31;0.000959)|Breast(41;0.0117) TAGGATGCTAGAATGAATGAT 0.318 NaN 0 0 0 0.006214 0 10 89 C14orf138 79609 broad.mit.edu 37 14 50583166 50583166 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:50583166G>A uc001wxo.1 - 1 132 c.105C>T c.(103-105)TCC>TCT p.S35S C14orf138_uc001wxn.1_5'Flank|C14orf138_uc001wxp.1_Silent_p.S35S|C14orf138_uc001wxq.1_RNA NM_024558 NP_078834 Q9H867 MT21D_HUMAN hypothetical protein LOC79609 isoform a 35 methyltransferase activity 0 all_epithelial(31;0.000822)|Breast(41;0.0065) CCACGCCACCGGAGCTATACT 0.602 NaN 0 0 0 0.000602 0 5 18 WDHD1 11169 broad.mit.edu 37 14 55448271 55448271 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:55448271G>A uc001xbm.1 - 16 2128 c.2050C>T c.(2050-2052)CCC>TCC p.P684S WDHD1_uc010aom.1_Missense_Mutation_p.P201S|WDHD1_uc001xbn.1_Missense_Mutation_p.P561S NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 684 cytoplasm|nucleoplasm DNA binding skin(1) 1 AGTTGCTGGGGATTTTCATGG 0.368 NaN 0 0 0 0.013537 0 11 114 WDHD1 11169 broad.mit.edu 37 14 55467688 55467688 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:55467688G>A uc001xbm.1 - 9 794 c.716C>T c.(715-717)TCT>TTT p.S239F WDHD1_uc001xbn.1_Missense_Mutation_p.S116F NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 239 WD 6. cytoplasm|nucleoplasm DNA binding skin(1) 1 CCCACAGGGAGACCAGGTTAC 0.308 NaN 0 0 0 0.008871 0 21 166 SPTB 6710 broad.mit.edu 37 14 65234536 65234536 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:65234536C>G uc001xht.2 - 29 6118 c.6064G>C c.(6064-6066)GAG>CAG p.E2022Q SPTB_uc001xhr.2_Missense_Mutation_p.E2022Q|SPTB_uc001xhs.2_Missense_Mutation_p.E2022Q|SPTB_uc001xhu.2_Missense_Mutation_p.E2022Q|SPTB_uc010aqi.2_Missense_Mutation_p.E683Q NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 2022 Spectrin 17. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) AGCCACGCCTCAGCCACAGAG 0.607 NaN 0 0 0 0.004482 0 8 29 RGS6 9628 broad.mit.edu 37 14 72985157 72985157 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:72985157C>G uc001xna.3 + 15 1713 c.1190C>G c.(1189-1191)CCA>CGA p.P397R RGS6_uc010ttn.1_Missense_Mutation_p.P397R|RGS6_uc001xmx.3_Missense_Mutation_p.P397R|RGS6_uc010tto.1_RNA|RGS6_uc001xmy.3_Missense_Mutation_p.P397R|RGS6_uc010ttp.1_Missense_Mutation_p.P328R|RGS6_uc001xmz.1_Missense_Mutation_p.P258R NM_004296 NP_004287 P49758 RGS6_HUMAN regulator of G-protein signalling 6 397 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity upper_aerodigestive_tract(1)|lung(1)|skin(1) 3 all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476) CCAGGGGCTCCAAGTGCAATC 0.468 NaN 0 0 0 0.008291 0 9 59 ZNF410 57862 broad.mit.edu 37 14 74360609 74360609 + Nonsense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:74360609C>A uc001xoz.1 + 3 325 c.143C>A c.(142-144)TCA>TAA p.S48* ZNF410_uc001xoy.1_RNA|ZNF410_uc010ary.1_RNA|ZNF410_uc010tuf.1_RNA|ZNF410_uc010tug.1_5'UTR|ZNF410_uc010tuh.1_Nonsense_Mutation_p.S48*|ZNF410_uc010tui.1_RNA|ZNF410_uc010arz.1_Nonsense_Mutation_p.S48*|ZNF410_uc001xpa.1_5'UTR|ZNF410_uc001xpb.1_Nonsense_Mutation_p.S48*|ZNF410_uc001xpc.1_5'UTR NM_021188 NP_067011 Q86VK4 ZN410_HUMAN zinc finger protein 410 48 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00369) ACTGAAGCCTCAGAATGCAGT 0.418 NaN 1 0 1.1362e-29 0.01441 1.24624e-29 62 103 RIN3 79890 broad.mit.edu 37 14 93081784 93081784 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr14:93081784G>C uc001yap.2 + 4 552 c.400G>C c.(400-402)GAG>CAG p.E134Q RIN3_uc010auk.2_Intron|RIN3_uc001yaq.2_Missense_Mutation_p.E59Q NM_024832 NP_079108 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 134 SH2. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding lung(2)|ovary(1) 3 all_cancers(154;0.0701) TCTTGTGTTTGAGGACATCTT 0.522 NaN 0 0 0 0.001855 0 11 189 MAGEL2 54551 broad.mit.edu 37 15 23889947 23889947 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:23889947G>C uc001ywj.3 - 1 1229 c.1134C>G c.(1132-1134)CTC>CTG p.L378L NM_019066 NP_061939 MAGE-like protein 2 0 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) GGCTTTCAGAGAGACCCAGGG 0.647 NaN 0 0 0 0.009096 0 4 20 ARHGAP11A 9824 broad.mit.edu 37 15 32917399 32917399 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:32917399C>A uc001zgy.1 + 5 1392 c.670C>A c.(670-672)CAG>AAG p.Q224K ARHGAP11A_uc010ubw.1_Missense_Mutation_p.Q35K|ARHGAP11A_uc001zgw.2_Missense_Mutation_p.Q224K|ARHGAP11A_uc001zgx.2_Missense_Mutation_p.Q224K|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.Q35K NM_014783 NP_055598 Q6P4F7 RHGBA_HUMAN Rho GTPase activating protein 11A isoform 1 224 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity skin(3)|breast(2)|urinary_tract(1) 6 all_lung(180;1.3e-11) all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227) GCTACGATTACAGGCTGCAGT 0.363 NaN 1 0 5.82388e-19 0.01441 6.32666e-19 53 68 FMN1 342184 broad.mit.edu 37 15 33359049 33359049 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:33359049G>C uc001zhf.3 - 1 1037 c.1037C>G c.(1036-1038)TCT>TGT p.S346C FMN1_uc001zhg.2_Missense_Mutation_p.S346C NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) GAGCAGCAGAGAGAGCTGCTC 0.557 NaN 0 0 0 0.010729 0 10 98 C15orf55 256646 broad.mit.edu 37 15 34649515 34649515 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:34649515G>A uc001zif.2 + 7 3377 c.3222G>A c.(3220-3222)AAG>AAA p.K1074K C15orf55_uc010ucc.1_Silent_p.K1102K|C15orf55_uc010ucd.1_Silent_p.K1092K NM_175741 NP_786883 Q86Y26 NUT_HUMAN nuclear protein in testis 1074 cytoplasm|nucleus BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3) midline_organs(25)|ovary(2)|lung(2)|skin(1) 30 all_lung(180;2.78e-08) all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249) AGTCTGGGAAGCGAGCTCTAG 0.587 NaN T BRD3|BRD4 lethal midline carcinoma 0 0 0 0.009096 0 4 55 SPRED1 161742 broad.mit.edu 37 15 38591726 38591726 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:38591726G>A uc001zka.3 + 2 520 c.185G>A c.(184-186)GGA>GAA p.G62E NM_152594 NP_689807 Q7Z699 SPRE1_HUMAN sprouty-related protein 1 with EVH-1 domain 62 WH1. inactivation of MAPK activity|multicellular organismal development caveola|nucleus stem cell factor receptor binding ovary(2)|lung(2)|skin(1) 5 all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091) GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244) TTTATCCGTGGAGAGCGACTC 0.388 NaN Legius_syndrome 0 0 0 0.001984 0 7 94 RASGRP1 10125 broad.mit.edu 37 15 38808463 38808463 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:38808463G>C uc001zke.3 - 6 788 c.610C>G c.(610-612)CTG>GTG p.L204V RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.L66V|RASGRP1_uc010bbg.2_Missense_Mutation_p.L66V|RASGRP1_uc001zkd.3_Missense_Mutation_p.L204V NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 204 cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) TCTGGTTCCAGATGGTCAAAG 0.468 NaN 0 0 0 0.009096 0 4 98 NUSAP1 51203 broad.mit.edu 37 15 41625174 41625174 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:41625174G>C uc001zns.3 + 1 249 c.19G>C c.(19-21)GAG>CAG p.E7Q OIP5_uc001znp.2_5'Flank|NUSAP1_uc001znq.3_5'UTR|NUSAP1_uc001znr.3_Missense_Mutation_p.E7Q|NUSAP1_uc010bce.2_Missense_Mutation_p.E7Q|NUSAP1_uc001znt.3_Missense_Mutation_p.E7Q|NUSAP1_uc001znv.3_Missense_Mutation_p.E7Q|NUSAP1_uc001znu.3_Missense_Mutation_p.E7Q|NUSAP1_uc010ucw.1_Missense_Mutation_p.E7Q NM_016359 NP_057443 Q9BXS6 NUSAP_HUMAN nucleolar and spindle associated protein 1 7 cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis chromosome|cytoplasm|nucleolus DNA binding 0 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168) CCCCTCTCTAGAGGAGCTGGA 0.582 NaN 0 0 0 0.001984 0 6 21 LTK 4058 broad.mit.edu 37 15 41805071 41805071 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:41805071C>G uc001zoa.3 - 3 371 c.193G>C c.(193-195)GAG>CAG p.E65Q LTK_uc001zob.3_Missense_Mutation_p.E65Q|LTK_uc010ucx.1_Missense_Mutation_p.E65Q|LTK_uc010bcg.2_Intron NM_002344 NP_002335 P29376 LTK_HUMAN leukocyte receptor tyrosine kinase isoform 1 65 Extracellular (Potential). apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity lung(6)|central_nervous_system(1) 7 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) CAAGACCCCTCGGTGCCTGAG 0.652 NaN TSP Lung(18;0.14) 0 0 0 0.009096 0 3 44 MGA 23269 broad.mit.edu 37 15 41961828 41961828 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:41961828C>G uc001zog.1 + 2 827 c.736C>G c.(736-738)CAG>GAG p.Q246E MGA_uc010ucy.1_Missense_Mutation_p.Q246E|MGA_uc010ucz.1_Missense_Mutation_p.Q246E NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 246 T-box. MLL1 complex DNA binding|sequence-specific DNA binding transcription factor activity ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 12 all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238) OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235) TCAGATTACTCAGCTGAAAAT 0.418 NaN 0 0 0 0.007291 0 30 32 CDAN1 146059 broad.mit.edu 37 15 43025297 43025297 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:43025297G>A uc001zql.2 - 9 1572 c.1455C>T c.(1453-1455)ATC>ATT p.I485I CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 485 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) GCACCCACCTGATTCTGCTGC 0.552 NaN 0 0 0 0.00308 0 8 74 CDAN1 146059 broad.mit.edu 37 15 43025301 43025301 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:43025301C>T uc001zql.2 - 9 1568 c.1451G>A c.(1450-1452)AGA>AAA p.R484K CDAN1_uc001zqj.2_5'Flank|CDAN1_uc001zqk.2_5'UTR|CDAN1_uc010bcx.1_RNA NM_138477 NP_612486 Q8IWY9 CDAN1_HUMAN codanin 1 484 integral to membrane protein binding ovary(2) 2 all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;2.49e-07) CCACCTGATTCTGCTGCCCAA 0.552 NaN 0 0 0 0.00308 0 8 76 CASC4 113201 broad.mit.edu 37 15 44695105 44695105 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:44695105G>C uc001zto.1 + 9 1392 c.1093G>C c.(1093-1095)GAA>CAA p.E365Q CASC4_uc001ztp.2_Missense_Mutation_p.E365Q|CASC4_uc001ztq.2_Intron NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN cancer susceptibility candidate 4 isoform a 365 Lumenal (Potential). integral to membrane ovary(1) 1 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) TGATGAAAATGAATCCCCTGT 0.453 NaN 0 0 0 0.004482 0 8 75 SCG3 29106 broad.mit.edu 37 15 51988109 51988109 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:51988109C>G uc002abh.2 + 8 1314 c.906C>G c.(904-906)ATC>ATG p.I302M SCG3_uc010ufz.1_Missense_Mutation_p.I70M NM_013243 NP_037375 Q8WXD2 SCG3_HUMAN secretogranin III isoform 1 precursor 302 platelet activation|platelet degranulation extracellular region|stored secretory granule ovary(1) 1 all cancers(107;0.00488) TGATTACTATCATGAAAACAC 0.333 NaN 0 0 0 0.01441 0 72 110 C15orf44 81556 broad.mit.edu 37 15 65891286 65891286 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:65891286C>G uc002apd.2 - 5 865 c.529G>C c.(529-531)GAT>CAT p.D177H C15orf44_uc010uix.1_Missense_Mutation_p.D213H|C15orf44_uc010uiz.1_Missense_Mutation_p.D141H|C15orf44_uc010uja.1_Missense_Mutation_p.D128H|C15orf44_uc010ujb.1_Missense_Mutation_p.D98H|C15orf44_uc002ape.3_Missense_Mutation_p.D177H|C15orf44_uc010uiy.1_Missense_Mutation_p.D98H NM_030800 NP_110427 Q96SY0 CO044_HUMAN hypothetical protein LOC81556 isoform 2 177 VWFA. D -> Y (in Ref. 2; BAB55140). ovary(1) 1 TTGTTTAAATCTATGAGACGT 0.418 NaN 0 0 0 0.013537 0 11 123 DENND4A 10260 broad.mit.edu 37 15 65983838 65983838 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:65983838C>T uc002aph.2 - 22 3340 c.2962G>A c.(2962-2964)GAG>AAG p.E988K DENND4A_uc002api.2_Missense_Mutation_p.E1031K|DENND4A_uc002apj.3_Missense_Mutation_p.E988K NM_005848 NP_005839 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A isoform 2 988 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 AAGAGCAGCTCAGGTGTGCTT 0.284 NaN 0 0 0 0.003163 0 16 8 CLK3 1198 broad.mit.edu 37 15 74912488 74912488 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:74912488G>A uc010uln.1 + 3 1196 c.735G>A c.(733-735)GAG>GAA p.E245E CLK3_uc002ayg.3_Silent_p.E97E|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Silent_p.E245E|CLK3_uc002ayj.3_Silent_p.E97E|CLK3_uc002ayk.3_5'UTR NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 245 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 GATCGCGGGAGAGGGGGCCAT 0.617 NaN 0 0 0 0.01441 0 51 75 POLG 5428 broad.mit.edu 37 15 89873444 89873444 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:89873444C>T uc002bns.3 - 3 1005 c.723G>A c.(721-723)CCG>CCA p.P241P POLG_uc002bnr.3_Silent_p.P241P NM_002693 NP_002684 P54098 DPOG1_HUMAN DNA-directed DNA polymerase gamma 241 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding ovary(1)|lung(1) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) TGAGGTCAGCCGGCGACAGCT 0.617 NaN DNA_polymerases_(catalytic_subunits) 0 0 0 0.006214 0 10 47 TTC23 64927 broad.mit.edu 37 15 99759146 99759146 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr15:99759146C>G uc002bur.2 - 6 943 c.412G>C c.(412-414)GAG>CAG p.E138Q TTC23_uc002bus.2_Missense_Mutation_p.E138Q|TTC23_uc002but.2_Missense_Mutation_p.E138Q|TTC23_uc002buu.2_Missense_Mutation_p.E138Q|TTC23_uc002buv.2_Missense_Mutation_p.E138Q|TTC23_uc002bux.2_Missense_Mutation_p.E138Q|TTC23_uc002buw.2_Missense_Mutation_p.E138Q|TTC23_uc010boq.2_RNA|TTC23_uc002buy.2_Missense_Mutation_p.E138Q|TTC23_uc010bor.2_Missense_Mutation_p.E138Q|TTC23_uc002buz.2_Missense_Mutation_p.E138Q NM_022905 NP_075056 Q5W5X9 TTC23_HUMAN tetratricopeptide repeat domain 23 138 TPR 2. binding 0 all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215) TGGAAAAGCTCAATGGAAAAC 0.393 NaN 0 0 0 0.007413 0 19 216 BAIAP3 8938 broad.mit.edu 37 16 1391337 1391337 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:1391337C>T uc002clk.1 + 8 683 c.683C>T c.(682-684)TCG>TTG p.S228L BAIAP3_uc002clj.2_Missense_Mutation_p.S210L|BAIAP3_uc010uuz.1_Missense_Mutation_p.S193L|BAIAP3_uc010uva.1_Missense_Mutation_p.S165L|BAIAP3_uc010uvb.1_Missense_Mutation_p.S245L|BAIAP3_uc010uvc.1_Missense_Mutation_p.S193L NM_003933 NP_003924 O94812 BAIP3_HUMAN BAI1-associated protein 3 228 C2 1. G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding pancreas(1) 1 Hepatocellular(780;0.0893) CTGCCTGCCTCGGACGCCACG 0.706 NaN 0 0 0 0.008291 0 9 29 AMDHD2 51005 broad.mit.edu 37 16 2570828 2570828 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:2570828G>A uc002cqq.2 + 2 239 c.142G>A c.(142-144)GAG>AAG p.E48K AMDHD2_uc002cqp.2_Missense_Mutation_p.E48K|AMDHD2_uc010uwc.1_Missense_Mutation_p.E48K|AMDHD2_uc010uwd.1_Intron NM_015944 NP_057028 Q9Y303 NAGA_HUMAN amidohydrolase domain containing 2 isoform 1 48 N-acetylglucosamine metabolic process N-acetylglucosamine-6-phosphate deacetylase activity skin(2)|large_intestine(1)|breast(1) 4 GTTCTTTGAGGAGCGGCGCGT 0.711 NaN 0 0 0 0.001855 0 6 13 ADCY9 115 broad.mit.edu 37 16 4016190 4016190 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:4016190C>G uc002cvx.2 - 11 4187 c.3648G>C c.(3646-3648)TTG>TTC p.L1216F NM_001116 NP_001107 O60503 ADCY9_HUMAN adenylate cyclase 9 1216 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 plasma membrane adenylate cyclase activity|ATP binding|metal ion binding ovary(4)|large_intestine(1)|central_nervous_system(1) 6 CCATCTTGCTCAAGACGCGGT 0.572 NaN 0 0 0 0.010729 0 10 140 PALB2 79728 broad.mit.edu 37 16 23640969 23640969 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:23640969C>T uc002dlx.1 - 5 2706 c.2506G>A c.(2506-2508)GTC>ATC p.V836I NM_024675 NP_078951 Q86YC2 PALB2_HUMAN partner and localizer of BRCA2 836 double-strand break repair via homologous recombination nucleoplasm DNA binding|protein binding lung(3)|breast(3)|ovary(2)|skin(1)|kidney(1)|pancreas(1) 11 GBM - Glioblastoma multiforme(48;0.0167) ACCTGTTCGACGGAATGTTTA 0.443 NaN F|N|Mis Wilms tumor|medulloblastoma|AML ,breast Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia_type_N|Fanconi_Anemia|PALB2-associated_Familial_Breast_and_Pancreatic_Cancer|Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.001855 0 14 74 SH2B1 25970 broad.mit.edu 37 16 28878108 28878108 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:28878108G>A uc002dri.2 + 4 1132 c.693G>A c.(691-693)CTG>CTA p.L231L uc010vct.1_Intron|SH2B1_uc010vdc.1_Intron|SH2B1_uc002drj.2_Silent_p.L231L|SH2B1_uc002drk.2_Silent_p.L231L|SH2B1_uc002drl.2_Silent_p.L231L|SH2B1_uc010vdd.1_Intron|SH2B1_uc010vde.1_Silent_p.L231L|SH2B1_uc002drm.2_Silent_p.L231L NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 isoform 1 231 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Required for NGF signaling (By similarity).|Required for nuclear localization (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity ovary(2) 2 TTGAGAGGCTGAGACTCAGTC 0.622 NaN 0 0 0 0.008291 0 11 29 ABCC11 85320 broad.mit.edu 37 16 48264436 48264436 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:48264436G>C uc002eff.1 - 2 498 c.148C>G c.(148-150)CCT>GCT p.P50A ABCC11_uc002efg.1_Missense_Mutation_p.P50A|ABCC11_uc002efh.1_Missense_Mutation_p.P50A|ABCC11_uc010vgl.1_Missense_Mutation_p.P50A NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 50 Cytoplasmic (Potential). integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) GGAGCCTCAGGATTTCTCTCT 0.498 NaN Cerumen_Type 0 0 0 0.001984 0 4 44 ZNF423 23090 broad.mit.edu 37 16 49671947 49671947 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:49671947G>A uc002efs.2 - 5 1414 c.1116C>T c.(1114-1116)CCC>CCT p.P372P ZNF423_uc010vgn.1_Silent_p.P255P NM_015069 NP_055884 Q2M1K9 ZN423_HUMAN zinc finger protein 423 372 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(1)|lung(1)|kidney(1)|pancreas(1) 4 all_cancers(37;0.0155) CGCTGGAGTCGGGTGTGGCGC 0.677 NaN 0 0 0 0.000602 0 5 21 HEATR3 55027 broad.mit.edu 37 16 50100305 50100305 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:50100305G>A uc002efw.2 + 2 328 c.166G>A c.(166-168)GAG>AAG p.E56K HEATR3_uc002efx.2_Intron NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 56 HEAT 1. binding ovary(1)|skin(1) 2 CGAGGTCCGCGAGTGCGCCTG 0.756 NaN 0 0 0 0.009096 0 3 5 NLRC5 84166 broad.mit.edu 37 16 57065331 57065331 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:57065331C>T uc002ekk.1 + 11 2658 c.2433C>T c.(2431-2433)ATC>ATT p.I811I NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.I560I|NLRC5_uc002ekl.2_Silent_p.I616I|NLRC5_uc002ekm.2_Silent_p.I616I|NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_5'Flank NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 811 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) CGGACCTCATCTTCCTTCTTT 0.562 NaN 0 0 0 0.009096 0 4 48 EDC4 23644 broad.mit.edu 37 16 67909846 67909846 + Splice_Site SNP A A T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:67909846A>T uc002eur.2 + 2 249 c.83_splice c.e2-2 p.G28_splice EDC4_uc010cer.2_Splice_Site|EDC4_uc010vkg.1_Splice_Site|EDC4_uc010ces.1_5'Flank|EDC4_uc002eus.2_5'Flank NM_014329 NP_055144 Q6P2E9 EDC4_HUMAN autoantigen RCD8 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|central_nervous_system(2) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CTTTGTCCCCAGGCCCCAGTG 0.557 NaN 0 0 0 0.011902 0 46 120 VAT1L 57687 broad.mit.edu 37 16 77859262 77859262 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:77859262C>T uc002ffg.1 + 3 580 c.483C>T c.(481-483)TTC>TTT p.F161F NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 161 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 CTGCTGCATTCCCCATGAACT 0.537 NaN 0 0 0 0.009096 0 4 39 PKD1L2 114780 broad.mit.edu 37 16 81249935 81249935 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:81249935G>A uc002fgh.1 - 2 378 c.378C>T c.(376-378)GAC>GAT p.D126D PKD1L2_uc002fgj.2_Silent_p.D126D NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 126 Extracellular (Potential).|C-type lectin. neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGCCGCAGGTGTCAGGGGCAG 0.657 NaN 0 0 0 0.00333 0 14 37 CDH15 1013 broad.mit.edu 37 16 89254631 89254631 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr16:89254631G>A uc002fmt.2 + 7 993 c.916G>A c.(916-918)GAT>AAT p.D306N NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 306 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) AGGCGACCCCGATGGGCAGTT 0.647 NaN 0 0 0 0.004672 0 3 21 PRPF8 10594 broad.mit.edu 37 17 1582371 1582371 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:1582371G>A uc002fte.2 - 11 1653 c.1539C>T c.(1537-1539)CTC>CTT p.L513L NM_006445 NP_006436 Q6P2Q9 PRP8_HUMAN U5 snRNP-specific protein 513 catalytic step 2 spliceosome|nuclear speck|U5 snRNP protein binding|RNA binding lung(4)|ovary(2) 6 UCEC - Uterine corpus endometrioid carcinoma (25;0.0855) GCAGGTAGTTGAGGTTTTTGC 0.542 NaN 0 0 0 0.00632 0 26 83 MYH2 4620 broad.mit.edu 37 17 10432249 10432249 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:10432249C>T uc010coi.2 - 27 3630 c.3502G>A c.(3502-3504)GAG>AAG p.E1168K uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.E1168K|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1168 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 TTGTTCATCTCAATCTGGGCT 0.612 NaN 0 0 0 0.001855 0 10 106 MYH3 4621 broad.mit.edu 37 17 10535904 10535904 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:10535904G>C uc002gmq.1 - 33 4922 c.4845C>G c.(4843-4845)CTC>CTG p.L1615L NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 1615 Potential. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity p.L1615R(1) ovary(4)|central_nervous_system(2)|pancreas(1) 7 TCTTCTTCTTGAGCCGGATGG 0.587 NaN 0 0 0 0.00308 0 6 325 RAI1 10743 broad.mit.edu 37 17 17699982 17699982 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17699982C>G uc002grm.2 + 3 4189 c.3720C>G c.(3718-3720)GTC>GTG p.V1240V RAI1_uc002grn.1_Silent_p.V1240V NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1240 Nuclear localization signal (Potential). cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) GGAACCTGGTCTTGCGGAGCC 0.632 NaN 0 0 0 0.000602 0 5 20 RAI1 10743 broad.mit.edu 37 17 17700179 17700179 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17700179C>G uc002grm.2 + 3 4386 c.3917C>G c.(3916-3918)TCT>TGT p.S1306C RAI1_uc002grn.1_Missense_Mutation_p.S1306C NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1306 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) AAGCTCGCCTCTCGGGCAGCC 0.652 NaN 0 0 0 0.004007 0 16 77 RAI1 10743 broad.mit.edu 37 17 17700285 17700285 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17700285C>G uc002grm.2 + 3 4492 c.4023C>G c.(4021-4023)CTC>CTG p.L1341L RAI1_uc002grn.1_Silent_p.L1341L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1341 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) CGCCCAGCCTCAAGAAGTTCG 0.632 NaN 0 0 0 0.010504 0 22 78 RAI1 10743 broad.mit.edu 37 17 17700331 17700331 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17700331C>A uc002grm.2 + 3 4538 c.4069C>A c.(4069-4071)CTG>ATG p.L1357M RAI1_uc002grn.1_Missense_Mutation_p.L1357M NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1357 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) TGGTAATCCTCTGAGCCCATC 0.622 NaN 1 0 1.67942e-08 0.006122 1.81137e-08 18 94 RAI1 10743 broad.mit.edu 37 17 17700911 17700911 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17700911C>T uc002grm.2 + 3 5118 c.4649C>T c.(4648-4650)TCT>TTT p.S1550F RAI1_uc002grn.1_Missense_Mutation_p.S1550F NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1550 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) AACACCACCTCTTCACCCTGT 0.612 NaN 0 0 0 0.010729 0 10 64 RAI1 10743 broad.mit.edu 37 17 17700914 17700914 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17700914C>T uc002grm.2 + 3 5121 c.4652C>T c.(4651-4653)TCA>TTA p.S1551L RAI1_uc002grn.1_Missense_Mutation_p.S1551L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1551 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) ACCACCTCTTCACCCTGTAAG 0.607 NaN 0 0 0 0.010729 0 10 62 RAI1 10743 broad.mit.edu 37 17 17701368 17701368 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:17701368C>T uc002grm.2 + 3 5575 c.5106C>T c.(5104-5106)CTC>CTT p.L1702L RAI1_uc002grn.1_Silent_p.L1702L NM_030665 NP_109590 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1702 cytoplasm|nucleus zinc ion binding central_nervous_system(1)|skin(1) 2 READ - Rectum adenocarcinoma(1115;0.0276) TTGGGGACCTCTGTGGGCCCT 0.592 NaN 0 0 0 0.00308 0 7 48 SLC13A2 9058 broad.mit.edu 37 17 26820718 26820718 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:26820718C>T uc002hbh.2 + 7 1075 c.1008C>T c.(1006-1008)TTC>TTT p.F336F SLC13A2_uc010wal.1_Silent_p.F293F|SLC13A2_uc010wam.1_Silent_p.F292F|SLC13A2_uc010wan.1_Silent_p.F385F|SLC13A2_uc010wao.1_Silent_p.F293F|SLC13A2_uc002hbi.2_Silent_p.F265F NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 336 Helical; (Potential). integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GCATCCTATTCGTCATCCTGG 0.577 NaN 0 0 0 0.001984 0 7 144 SUPT6H 6830 broad.mit.edu 37 17 27000447 27000447 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:27000447G>A uc002hby.2 + 2 118 c.28G>A c.(28-30)GAG>AAG p.E10K SUPT6H_uc010crt.2_Missense_Mutation_p.E10K NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog 10 Asp/Glu-rich. chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 Lung NSC(42;0.00431) AAGCGAGGCTGAGGAGTCAGA 0.483 NaN 0 0 0 0.00308 0 8 47 MYO18A 399687 broad.mit.edu 37 17 27421806 27421806 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:27421806C>T uc002hdt.1 - 30 4730 c.4572G>A c.(4570-4572)CAG>CAA p.Q1524Q MYO18A_uc010wbc.1_Silent_p.Q1066Q|MYO18A_uc002hds.2_Silent_p.Q1066Q|MYO18A_uc010csa.1_Silent_p.Q1524Q|MYO18A_uc002hdu.1_Silent_p.Q1524Q NM_078471 NP_510880 Q92614 MY18A_HUMAN myosin 18A isoform a 1524 Potential. anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity 0 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) AAGAAATGTCCTGGAGCTCTG 0.537 NaN 0 0 0 0.008291 0 10 264 C17orf42 79736 broad.mit.edu 37 17 29227537 29227537 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:29227537A>G uc002hfu.2 - 3 609 c.539T>C c.(538-540)ATT>ACT p.I180T C17orf42_uc002hfv.2_RNA|C17orf42_uc002hfw.2_Missense_Mutation_p.I180T NM_024683 NP_078959 Q96QE5 TEFM_HUMAN hypothetical protein LOC79736 180 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding ovary(1) 1 all_cancers(10;4.64e-07)|all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) AGCCCAGGCAATTCTTCGAGT 0.338 NaN 0 0 0 0.00333 0 21 171 NF1 4763 broad.mit.edu 37 17 29576080 29576080 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:29576080C>G uc002hgg.2 + 30 4386 c.4053C>G c.(4051-4053)ATC>ATG p.I1351M NF1_uc002hgh.2_Missense_Mutation_p.I1351M|NF1_uc010csn.1_Missense_Mutation_p.I1211M|NF1_uc002hgi.1_Missense_Mutation_p.I384M NM_001042492 NP_001035957 P21359 NF1_HUMAN neurofibromin isoform 1 1351 Ras-GAP. actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.?(2) soft_tissue(159)|central_nervous_system(56)|lung(28)|large_intestine(27)|haematopoietic_and_lymphoid_tissue(18)|ovary(18)|autonomic_ganglia(12)|breast(3)|skin(3)|stomach(2)|thyroid(1)|prostate(1)|kidney(1)|pancreas(1) 330 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) ATGCCATCATCAGTTCCTCCT 0.388 NaN D|Mis|N|F|S|O neurofibroma|glioma neurofibroma|glioma Neurofibromatosis_type_1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 0 0 0 0.00278 0 24 260 ACACA 31 broad.mit.edu 37 17 35512649 35512649 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:35512649G>A uc002hnm.2 - 43 5483 c.5292C>T c.(5290-5292)CTC>CTT p.L1764L ACACA_uc002hnk.2_Silent_p.L1686L|ACACA_uc002hnl.2_Silent_p.L1706L|ACACA_uc002hnn.2_Silent_p.L1764L|ACACA_uc002hno.2_Silent_p.L1801L|ACACA_uc010cuy.2_Silent_p.L409L|ACACA_uc010wdc.1_5'UTR NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1764 Carboxyltransferase. acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGACAGAGTTGAGAGCACTGA 0.358 NaN 0 0 0 0.01441 0 43 312 LASP1 3927 broad.mit.edu 37 17 37046755 37046755 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:37046755C>T uc002hra.2 + 3 578 c.247C>T c.(247-249)CAG>TAG p.Q83* LASP1_uc010wdy.1_Nonsense_Mutation_p.Q83*|LASP1_uc010cvq.2_5'UTR|LASP1_uc010wdz.1_Intron NM_006148 NP_006139 Q14847 LASP1_HUMAN LIM and SH3 protein 1 83 Nebulin 1. cortical actin cytoskeleton ion transmembrane transporter activity|SH3/SH2 adaptor activity|zinc ion binding lung(1) 1 GCTCCAGAGTCAGGTGAGGGG 0.597 NaN T MLL AML 0 0 0 0.00245 0 13 67 KRT24 192666 broad.mit.edu 37 17 38857538 38857538 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:38857538C>G uc002hvd.2 - 3 766 c.709G>C c.(709-711)GAG>CAG p.E237Q NM_019016 NP_061889 Q2M2I5 K1C24_HUMAN keratin 24 237 Rod.|Coil 1B. cytoplasm|intermediate filament structural molecule activity 0 Breast(137;0.00526) AGACACAGCTCGTTCTCATAC 0.507 NaN 0 0 0 0.001168 0 6 60 KRTAP4-9 100132386 broad.mit.edu 37 17 39262231 39262231 + Silent SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:39262231C>A uc010wfp.1 + 1 591 c.591C>A c.(589-591)TCC>TCA p.S197S NM_001146041 NP_001139513 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 197 keratin filament 0 GTGTCATCTCCAGCTGCCCCC 0.512 NaN 1 0 2.74318e-10 0.006214 2.96578e-10 6 4 KLHL11 55175 broad.mit.edu 37 17 40011443 40011443 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:40011443C>G uc002hyf.1 - 2 682 c.676G>C c.(676-678)GAT>CAT p.D226H NM_018143 NP_060613 Q9NVR0 KLH11_HUMAN kelch-like 11 precursor 226 BACK. extracellular region 0 Breast(137;0.00156) CGTATCATATCAGCAGCCTTC 0.383 NaN 0 0 0 0.01441 0 44 162 ACLY 47 broad.mit.edu 37 17 40068681 40068681 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:40068681C>T uc002hyg.2 - 3 437 c.274G>A c.(274-276)GAA>AAA p.E92K ACLY_uc002hyh.2_Missense_Mutation_p.E92K|ACLY_uc002hyi.2_Missense_Mutation_p.E146K|ACLY_uc010wfx.1_Missense_Mutation_p.E146K|ACLY_uc010wfy.1_Missense_Mutation_p.E92K NM_001096 NP_001087 P53396 ACLY_HUMAN ATP citrate lyase isoform 1 92 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity ovary(2)|central_nervous_system(1) 3 Breast(137;0.000143) ACTGTGGCTTCCTGTCCCAGC 0.567 NaN 0 0 0 0.010729 0 7 111 KAT2A 2648 broad.mit.edu 37 17 40271680 40271680 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:40271680C>G uc002hyx.2 - 5 816 c.756G>C c.(754-756)CAG>CAC p.Q252H NM_021078 NP_066564 Q92830 KAT2A_HUMAN general control of amino acid synthesis 5-like 252 chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity upper_aerodigestive_tract(1)|lung(1) 2 CGAACATCGTCTGCCGCTCCC 0.547 NaN 0 0 0 0.012319 0 19 63 CALCOCO2 10241 broad.mit.edu 37 17 46926617 46926617 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:46926617G>A uc002iof.2 + 5 500 c.421G>A c.(421-423)GAG>AAG p.E141K CALCOCO2_uc010wlp.1_Missense_Mutation_p.E162K|CALCOCO2_uc010wlq.1_Missense_Mutation_p.E69K|CALCOCO2_uc010wlr.1_Missense_Mutation_p.E165K|CALCOCO2_uc010wls.1_Intron NM_005831 NP_005822 Q13137 CACO2_HUMAN calcium binding and coiled-coil domain 2 141 Potential. response to interferon-gamma|viral reproduction cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction protein homodimerization activity ovary(1) 1 TTTGTAGGGAGAGGTGGAAGA 0.463 NaN 0 0 0 0.003271 0 34 107 SLC35B1 10237 broad.mit.edu 37 17 47780327 47780327 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:47780327G>C uc002iph.1 - 8 896 c.809C>G c.(808-810)TCC>TGC p.S270C SLC35B1_uc002ipi.1_Missense_Mutation_p.S203C|SLC35B1_uc002ipj.1_Missense_Mutation_p.S146C NM_005827 NP_005818 P78383 S35B1_HUMAN solute carrier family 35, member B1 270 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity 0 AGTGATGATGGAGCAGGTCAG 0.502 NaN 0 0 0 0.004482 0 8 127 MRPL27 51264 broad.mit.edu 37 17 48445522 48445522 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:48445522G>C uc002iqq.2 - 4 409 c.378C>G c.(376-378)CTC>CTG p.L126L MRPL27_uc002iqr.2_3'UTR NM_016504 NP_057588 Q9P0M9 RM27_HUMAN mitochondrial ribosomal protein L27 126 translation mitochondrial large ribosomal subunit structural constituent of ribosome 0 Breast(11;5.62e-19) BRCA - Breast invasive adenocarcinoma(22;1.73e-07) AAGTCTTGTAGAGCACAGCAC 0.547 NaN 0 0 0 0.014323 0 22 57 UTP18 51096 broad.mit.edu 37 17 49374347 49374347 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:49374347C>G uc002its.2 + 13 1717 c.1668C>G c.(1666-1668)TTC>TTG p.F556L NM_016001 NP_057085 Q9Y5J1 UTP18_HUMAN UTP18, small subunit processome component 556 GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043). rRNA processing nucleolus 0 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) ACTCAGACTTCTAAAGAGACT 0.373 NaN 0 0 0 0.003163 0 16 167 MPO 4353 broad.mit.edu 37 17 56349051 56349051 + Silent SNP G G A rs141229223 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:56349051G>A uc002ivu.1 - 11 2172 c.1995C>T c.(1993-1995)ATC>ATT p.I665I NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 665 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) ACTGGGTACCGATGATGCAGG 0.647 NaN 0 0 0 0.001984 0 5 46 MPO 4353 broad.mit.edu 37 17 56350157 56350157 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:56350157C>G uc002ivu.1 - 10 1921 c.1744G>C c.(1744-1746)GAC>CAC p.D582H NM_000250 NP_000241 P05164 PERM_HUMAN myeloperoxidase 582 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity ovary(2)|large_intestine(1)|pancreas(1) 4 Cefdinir(DB00535) GCAGGCAGGTCCAGCCCAATC 0.617 NaN 0 0 0 0.010729 0 12 210 C17orf47 284083 broad.mit.edu 37 17 56620137 56620137 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:56620137C>G uc002iwq.1 - 1 1547 c.1411G>C c.(1411-1413)GAG>CAG p.E471Q SEPT4_uc010wnx.1_5'Flank|SEPT4_uc010wny.1_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN hypothetical protein LOC284083 471 breast(1) 1 Medulloblastoma(34;0.127)|all_neural(34;0.237) TTCAGATCCTCACAGAAAGGG 0.493 NaN 0 0 0 0.008361 0 30 462 USP32 84669 broad.mit.edu 37 17 58286164 58286164 + Missense_Mutation SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:58286164T>C uc002iyo.1 - 23 2910 c.2624A>G c.(2623-2625)AAT>AGT p.N875S USP32_uc002iyn.1_Missense_Mutation_p.N545S NM_032582 NP_115971 Q8NFA0 UBP32_HUMAN ubiquitin specific protease 32 875 protein deubiquitination|ubiquitin-dependent protein catabolic process Golgi apparatus|membrane calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity lung(2)|breast(2)|large_intestine(1) 5 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198) AATTGATCTATTTCTTCTTAG 0.348 NaN 0 0 0 0.006122 0 14 115 FBF1 85302 broad.mit.edu 37 17 73922925 73922925 + Missense_Mutation SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:73922925T>C uc002jqc.2 - 9 741 c.467A>G c.(466-468)TAT>TGT p.Y156C FBF1_uc002jqa.1_RNA|FBF1_uc010wsp.1_Missense_Mutation_p.Y146C|FBF1_uc002jqd.1_Missense_Mutation_p.Y156C NM_001080542 NP_001074011 Q8TES7 FBF1_HUMAN Fas (TNFRSF6) binding factor 1 156 0 TCCTTCATCATAGGAGAGAAG 0.512 NaN 0 0 0 0.004482 0 8 21 PRPSAP1 5635 broad.mit.edu 37 17 74307742 74307742 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:74307742G>A uc010wta.1 - 10 1485 c.1039C>T c.(1039-1041)CTG>TTG p.L347L PRPSAP1_uc010wtb.1_Silent_p.L244L NM_002766 NP_002757 Q14558 KPRA_HUMAN phosphoribosyl pyrophosphate 318 nucleotide biosynthetic process enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity ovary(1) 1 GGACATTGCAGCTTCTGAACC 0.453 NaN 0 0 0 0.008871 0 19 102 RNF213 57674 broad.mit.edu 37 17 78343329 78343329 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:78343329C>T uc002jyh.1 + 20 6625 c.6402C>T c.(6400-6402)TTC>TTT p.F2134F uc002jyi.1_Intron|RNF213_uc010dhw.1_Silent_p.F516F NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) ATGCCCGCTTCCGGCAGATGT 0.493 NaN 0 0 0 0.01441 0 62 177 RNF213 57674 broad.mit.edu 37 17 78343399 78343399 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:78343399G>A uc002jyh.1 + 20 6695 c.6472G>A c.(6472-6474)GAG>AAG p.E2158K uc002jyi.1_Intron|RNF213_uc010dhw.1_Missense_Mutation_p.E540K NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN ring finger protein 213 Error:Variant_position_missing_in_Q9HCF4_after_alignment ovary(8)|lung(6)|breast(3)|large_intestine(2)|central_nervous_system(1)|pancreas(1) 21 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CGCTCCGCCTGAGAAGGAAGT 0.517 NaN 0 0 0 0.009718 0 42 139 NARF 26502 broad.mit.edu 37 17 80439027 80439027 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:80439027C>T uc002kfg.3 + 7 849 c.709C>T c.(709-711)CAG>TAG p.Q237* NARF_uc002kff.3_Nonsense_Mutation_p.Q178*|NARF_uc010wvo.1_Nonsense_Mutation_p.Q192*|NARF_uc010wvp.1_Nonsense_Mutation_p.Q109*|NARF_uc010dit.2_Nonsense_Mutation_p.Q237*|NARF_uc002kfj.3_Nonsense_Mutation_p.Q189*|NARF_uc002kfi.3_RNA|NARF_uc002kfh.3_Nonsense_Mutation_p.Q283*|NARF_uc002kfk.2_RNA NM_012336 NP_036468 Q9UHQ1 NARF_HUMAN nuclear prelamin A recognition factor isoform a 237 lamin filament lamin binding skin(1) 1 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369) GGAGGCTCTTCAGGAAAGCCT 0.577 NaN 0 0 0 0.013537 0 13 182 LAMA1 284217 broad.mit.edu 37 18 7038844 7038844 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:7038844C>T uc002knm.2 - 11 1622 c.1528G>A c.(1528-1530)GAT>AAT p.D510N LAMA1_uc010wzj.1_5'UTR NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 510 Laminin EGF-like 5; first part. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTGCAGACATCAGAAACGCCA 0.567 NaN 0 0 0 0.003163 0 15 179 CEP76 79959 broad.mit.edu 37 18 12702511 12702511 + Nonsense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:12702511G>A uc002kri.2 - 1 193 c.37C>T c.(37-39)CAG>TAG p.Q13* PSMG2_uc002krg.2_Intron|PSMG2_uc002krj.1_5'Flank|PSMG2_uc002krk.2_5'Flank|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.1_Nonsense_Mutation_p.Q13*|CEP76_uc010xaa.1_5'Flank|CEP76_uc010xab.1_Nonsense_Mutation_p.Q13* NM_024899 NP_079175 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 13 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding 0 TGGATGAGCTGCTTCAGCTCG 0.706 NaN 0 0 0 0.001984 0 7 23 ELP2 55250 broad.mit.edu 37 18 33738801 33738801 + Missense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:33738801G>T uc002kzk.1 + 14 1478 c.1468G>T c.(1468-1470)GAT>TAT p.D490Y ELP2_uc010xcg.1_Missense_Mutation_p.D555Y|ELP2_uc002kzl.1_RNA|ELP2_uc002kzm.1_Missense_Mutation_p.D464Y|ELP2_uc010xch.1_Missense_Mutation_p.D485Y|ELP2_uc002kzn.1_Missense_Mutation_p.D420Y|ELP2_uc002kzo.1_Missense_Mutation_p.D420Y NM_018255 NP_060725 Q6IA86 ELP2_HUMAN elongator protein 2 490 regulation of transcription from RNA polymerase II promoter Golgi apparatus|transcription elongation factor complex breast(2)|ovary(1)|skin(1) 4 ATTCTAGCAAGATAGTGATCT 0.308 NaN 1 0 1.28384e-07 0.012319 1.37489e-07 20 75 KIAA1632 57724 broad.mit.edu 37 18 43495477 43495477 + Missense_Mutation SNP T T A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:43495477T>A uc002lbm.2 - 20 3792 c.3692A>T c.(3691-3693)CAG>CTG p.Q1231L KIAA1632_uc002lbo.1_Missense_Mutation_p.Q1231L|KIAA1632_uc010xcq.1_5'UTR|KIAA1632_uc010xcr.1_RNA|KIAA1632_uc010xcs.1_RNA|KIAA1632_uc002lbn.2_Missense_Mutation_p.Q106L NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 1231 autophagy 0 GTTTCCTACCTGAGTGGGCGT 0.418 NaN 0 0 0 0.00333 0 26 84 TCEB3B 51224 broad.mit.edu 37 18 44559494 44559494 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:44559494C>T uc002lcr.1 - 1 2495 c.2142G>A c.(2140-2142)CTG>CTA p.L714L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 714 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 TGCTGCTGCTCAGGCAGGGGT 0.522 NaN 0 0 0 0.014323 0 20 55 KATNAL2 83473 broad.mit.edu 37 18 44589673 44589673 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:44589673C>T uc002lco.2 + 7 645 c.451C>T c.(451-453)CTG>TTG p.L151L KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lcp.3_Silent_p.L111L NM_031303 NP_112593 Q8IYT4 KATL2_HUMAN katanin p60 subunit A-like 2 223 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1) 4 GCTGAAACCTCTGAGTGCATT 0.468 NaN 0 0 0 0.009096 0 4 61 DCC 1630 broad.mit.edu 37 18 50592482 50592482 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:50592482G>A uc002lfe.1 + 7 1794 c.1207G>A c.(1207-1209)GAA>AAA p.E403K DCC_uc010xdr.1_Missense_Mutation_p.E251K|DCC_uc010dpf.1_Missense_Mutation_p.E58K NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 403 Extracellular (Potential).|Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATGTGTGGCTGAAAATGAGGC 0.438 NaN 0 0 0 0.007413 0 19 150 ZNF236 7776 broad.mit.edu 37 18 74587572 74587572 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr18:74587572C>T uc002lmi.2 + 6 984 c.786C>T c.(784-786)TTC>TTT p.F262F ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Silent_p.F262F NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 262 C2H2-type 8. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CTGCCGCCTTCTCTCAGAAAG 0.532 NaN OREG0025069 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 10 137 SLC39A3 29985 broad.mit.edu 37 19 2737188 2737188 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:2737188G>C uc002lwg.2 - 2 322 c.68C>G c.(67-69)TCC>TGC p.S23C SLC39A3_uc010xgy.1_Missense_Mutation_p.S23C|SLC39A3_uc002lwh.2_Missense_Mutation_p.S23C NM_144564 NP_653165 Q9BRY0 S39A3_HUMAN solute carrier family 39 (zinc transporter), 23 Helical; (Potential). integral to membrane|plasma membrane zinc ion transmembrane transporter activity 0 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGGGAGCAGGGAGCCGAGCAG 0.547 NaN 0 0 0 0.004672 0 3 27 MATK 4145 broad.mit.edu 37 19 3781668 3781668 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:3781668C>T uc002lyt.2 - 8 1079 c.679G>A c.(679-681)GGC>AGC p.G227S MATK_uc002lyv.2_Missense_Mutation_p.G228S|MATK_uc002lyu.2_Missense_Mutation_p.G186S|MATK_uc010dtq.2_Missense_Mutation_p.G227S NM_139355 NP_647612 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase isoform 227 cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity stomach(2)|ovary(1)|lung(1)|large_intestine(1) 5 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) AGTAACCAGCCCGCTGTGGAG 0.557 NaN 0 0 0 0.009096 0 3 41 INSR 3643 broad.mit.edu 37 19 7174599 7174599 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:7174599C>T uc002mgd.1 - 4 1227 c.1118G>A c.(1117-1119)GGA>GAA p.G373E INSR_uc002mge.1_Missense_Mutation_p.G373E|INSR_uc002mgf.2_Missense_Mutation_p.G373E NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 373 activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) CTCACTGCCTCCTCGAATGTT 0.602 NaN 0 0 0 0.004482 0 9 49 ZNF441 126068 broad.mit.edu 37 19 11891441 11891441 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:11891441C>G uc010dyj.2 + 4 996 c.802C>G c.(802-804)CAA>GAA p.Q268E ZNF441_uc002msn.3_Missense_Mutation_p.Q224E NM_152355 NP_689568 Q8N8Z8 ZN441_HUMAN zinc finger protein 441 268 C2H2-type 4; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 CTGTTACACTCAACTATATGA 0.383 NaN 0 0 0 0.009096 0 4 117 MYO9B 4650 broad.mit.edu 37 19 17305659 17305659 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:17305659C>G uc010eak.2 + 22 3575 c.3423C>G c.(3421-3423)GTC>GTG p.V1141V MYO9B_uc002nfi.2_Silent_p.V1141V|MYO9B_uc002nfj.1_Silent_p.V1141V NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1141 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 ACGAGAAAGTCCCCAGCAGCC 0.607 NaN 0 0 0 0.009096 0 4 26 ANO8 57719 broad.mit.edu 37 19 17440962 17440962 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:17440962C>T uc002ngf.2 - 10 1404 c.1245G>A c.(1243-1245)AAG>AAA p.K415K ANO8_uc010eap.2_RNA NM_020959 NP_066010 Q9HCE9 ANO8_HUMAN anoctamin 8 415 Helical; (Potential).|Leu-rich. chloride channel complex chloride channel activity ovary(3) 3 TGGCTAGCTTCTTGTAGCCCT 0.627 NaN 0 0 0 0.000602 0 5 54 ZNF682 91120 broad.mit.edu 37 19 20117297 20117297 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:20117297C>T uc002noq.2 - 4 1137 c.1014G>A c.(1012-1014)GAG>GAA p.E338E ZNF682_uc002noo.2_Silent_p.E306E|ZNF682_uc002nop.2_Silent_p.E306E|ZNF682_uc010eck.2_Silent_p.E262E NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 TATAGGGTTTCTCTCCCGTAT 0.383 NaN 0 0 0 0.003954 0 23 114 SLC7A9 11136 broad.mit.edu 37 19 33359415 33359415 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:33359415C>T uc002ntv.3 - 2 143 c.26G>A c.(25-27)CGG>CAG p.R9Q SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.R9Q|SLC7A9_uc002ntw.3_5'UTR NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 9 Cytoplasmic (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) ATCCTCTCTCCGCTTTCTCAG 0.557 NaN 0 0 0 0.014323 0 20 148 ZNF793 390927 broad.mit.edu 37 19 38028585 38028585 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:38028585G>C uc010efm.2 + 8 1467 c.1025G>C c.(1024-1026)AGA>ACA p.R342T ZNF793_uc010xts.1_Missense_Mutation_p.R342T|ZNF793_uc010efo.2_Intron NM_001013659 NP_001013681 Q6ZN11 ZN793_HUMAN zinc finger protein 793 342 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TATCGTTGCAGAGAATGTGGA 0.453 NaN 0 0 0 0.000602 0 4 70 SAMD4B 55095 broad.mit.edu 37 19 39868169 39868169 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:39868169G>A uc002olb.2 + 10 2184 c.1149G>A c.(1147-1149)CTG>CTA p.L383L SAMD4B_uc002ola.2_Silent_p.L383L NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 383 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) TGCAGGAGCTGCAGCAGATCA 0.627 NaN 0 0 0 0.001168 0 5 75 PSG5 5673 broad.mit.edu 37 19 43680125 43680125 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:43680125G>A uc002ovu.2 - 3 737 c.606C>T c.(604-606)CTC>CTT p.L202L PSG6_uc010xwk.1_Intron|PSG5_uc010eir.2_Intron|PSG5_uc002ovx.2_Silent_p.L202L|PSG5_uc002ovv.2_Silent_p.L295L|PSG5_uc002ovw.2_Intron NM_002781 NP_002772 Q15238 PSG5_HUMAN pregnancy specific beta-1-glycoprotein 5 202 Ig-like C2-type 1. female pregnancy extracellular region skin(3) 3 Prostate(69;0.00899) TGGGTAGAATGAGGATCCTGT 0.507 NaN 0 0 0 0.00308 0 6 277 PLAUR 5329 broad.mit.edu 37 19 44169603 44169603 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:44169603C>T uc002oxf.1 - 3 405 c.175G>A c.(175-177)GAG>AAG p.E59K PLAUR_uc002oxd.1_Missense_Mutation_p.E59K|PLAUR_uc002oxe.1_Missense_Mutation_p.E54K|PLAUR_uc002oxg.1_Missense_Mutation_p.E59K NM_002659 NP_002650 Q03405 UPAR_HUMAN plasminogen activator, urokinase receptor 59 UPAR/Ly6 1. attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane enzyme binding|U-plasminogen activator receptor activity ovary(1) 1 Prostate(69;0.0153) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013) AGCTCCAGCTCTTCTCCTTCT 0.557 NaN 0 0 0 0.001168 0 6 89 ZNF285 26974 broad.mit.edu 37 19 44896514 44896514 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:44896514G>A uc002ozd.3 - 3 219 c.132C>T c.(130-132)CTC>CTT p.L44L ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Silent_p.L51L NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 44 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 TCACTAACATGAGGTTCCTGA 0.428 NaN 0 0 0 0.00499 0 16 192 CCDC9 26093 broad.mit.edu 37 19 47761897 47761897 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:47761897G>C uc010xym.1 + 3 292 c.85G>C c.(85-87)GAG>CAG p.E29Q NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 29 0 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) GCGGAAGAATGAGGCCCTCAT 0.552 NaN 0 0 0 0.009096 0 3 74 VN1R4 317703 broad.mit.edu 37 19 53770061 53770061 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:53770061C>G uc010ydu.1 - 1 858 c.858G>C c.(856-858)ATG>ATC p.M286I NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 286 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) GGTCACAGCTCATGAGAACAA 0.393 NaN HNSCC(26;0.072) 0 0 0 0.000602 0 5 82 TMC4 147798 broad.mit.edu 37 19 54667458 54667458 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:54667458G>A uc010erf.2 - 8 1425 c.1293C>T c.(1291-1293)CTC>CTT p.L431L TMC4_uc002qdn.2_Nonsense_Mutation_p.Q122*|TMC4_uc002qdo.2_Silent_p.L425L NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 431 Helical; (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GCTGGAACCTGAGCAGGATAA 0.567 NaN OREG0003641 type=REGULATORY REGION|Gene=AK124406|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.001168 0 6 74 LILRB1 10859 broad.mit.edu 37 19 55147018 55147018 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:55147018G>A uc002qgj.2 + 14 1948 c.1608G>A c.(1606-1608)GTG>GTA p.V536V LILRB1_uc010erp.1_Silent_p.V151V|LILRB1_uc002qgl.2_Silent_p.V536V|LILRB1_uc002qgk.2_Silent_p.V537V|LILRB1_uc002qgm.2_Silent_p.V537V|LILRB1_uc010erq.2_Silent_p.V520V|LILRB1_uc010err.2_RNA NM_006669 NP_006660 Q8NHL6 LIRB1_HUMAN leukocyte immunoglobulin-like receptor, 536 Cytoplasmic (Potential).|ITIM motif 1. regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity large_intestine(1)|ovary(1)|skin(1) 3 GBM - Glioblastoma multiforme(193;0.0188) ATGCTGCCGTGAAGCACACAC 0.627 NaN HNSCC(37;0.09) 0 0 0 0.00308 0 5 137 LPIN1 23175 broad.mit.edu 37 2 11911647 11911647 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:11911647G>A uc010yjn.1 + 5 712 c.438G>A c.(436-438)CCG>CCA p.P146P LPIN1_uc010yjm.1_Silent_p.P195P|LPIN1_uc002rbt.2_Silent_p.P146P|LPIN1_uc002rbs.2_Silent_p.P146P NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 146 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GCGAGACGCCGTCAAGCAGCT 0.537 NaN 0 0 0 0.004007 0 14 23 PUM2 23369 broad.mit.edu 37 2 20478508 20478508 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:20478508G>C uc002rds.1 - 12 1816 c.1793C>G c.(1792-1794)TCT>TGT p.S598C PUM2_uc002rdq.1_Translation_Start_Site|PUM2_uc002rdt.1_Missense_Mutation_p.S598C|PUM2_uc002rdr.2_Intron|PUM2_uc010yjy.1_Intron|PUM2_uc002rdu.1_Missense_Mutation_p.S598C|PUM2_uc010yjz.1_Missense_Mutation_p.S537C NM_015317 NP_056132 Q8TB72 PUM2_HUMAN pumilio homolog 2 598 Ser-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTGCTACTAGATCTTTTGTA 0.438 NaN 0 0 0 0.009096 0 4 225 APOB 338 broad.mit.edu 37 2 21228021 21228021 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:21228021C>T uc002red.2 - 26 11847 c.11719G>A c.(11719-11721)GAT>AAT p.D3907N NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 3907 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) TCAACATAATCTGCTTTGTTT 0.428 NaN 0 0 0 0.009718 0 44 129 ASXL2 55252 broad.mit.edu 37 2 25990452 25990452 + Nonsense_Mutation SNP T T A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:25990452T>A uc002rgs.2 - 7 996 c.775A>T c.(775-777)AGA>TGA p.R259* ASXL2_uc002rgt.1_5'UTR NM_018263 NP_060733 Q76L83 ASXL2_HUMAN additional sex combs like 2 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding pancreas(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCAAACTTACTGGTATGGAGT 0.373 NaN 0 0 0 0.005443 0 28 73 CENPA 1058 broad.mit.edu 37 2 27016087 27016087 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:27016087C>G uc002rhr.2 + 4 546 c.363C>G c.(361-363)CTC>CTG p.L121L CENPA_uc002rht.2_RNA|CENPA_uc002rhs.2_Silent_p.L95L NM_001809 NP_001800 P49450 CENPA_HUMAN centromere protein A isoform a 121 H3-like. CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome chromatin binding|DNA binding|protein binding 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAGTTACTCTCTTCCCAAAGG 0.542 NaN 0 0 0 0.01441 0 56 310 C2orf53 339779 broad.mit.edu 37 2 27360613 27360613 + Silent SNP G G A rs137967723 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:27360613G>A uc002rjb.2 - 3 1165 c.585C>T c.(583-585)TGC>TGT p.C195C NM_178553 NP_848648 Q53SZ7 CB053_HUMAN hypothetical protein LOC339779 195 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGCTTGGCACGCATCTCTCCA 0.657 NaN 0 0 0 0.010729 0 10 51 SUPT7L 9913 broad.mit.edu 37 2 27884232 27884232 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:27884232G>A uc002rlh.1 - 3 381 c.38C>T c.(37-39)TCA>TTA p.S13L SUPT7L_uc002rli.1_Missense_Mutation_p.S13L|SUPT7L_uc010ymf.1_Intron|SUPT7L_uc002rlj.1_Missense_Mutation_p.S11L|SUPT7L_uc010ezh.1_Missense_Mutation_p.S11L|SLC4A1AP_uc002rlk.3_5'Flank NM_014860 NP_055675 O94864 ST65G_HUMAN SPTF-associated factor 65 gamma 13 histone H3 acetylation|maintenance of protein location in nucleus|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity skin(2) 2 Acute lymphoblastic leukemia(172;0.155) CTGGCTTGATGATATTGGTAT 0.448 NaN 0 0 0 0.006214 0 9 102 HEATR5B 54497 broad.mit.edu 37 2 37287790 37287790 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:37287790C>G uc002rpp.1 - 12 1879 c.1783G>C c.(1783-1785)GAG>CAG p.E595Q NM_019024 NP_061897 Q9P2D3 HTR5B_HUMAN HEAT repeat containing 5B 595 binding ovary(5)|skin(2)|breast(1) 8 all_hematologic(82;0.21) CGGGCCTTCTCAGCTTCCAAT 0.448 NaN 0 0 0 0.013537 0 13 130 THADA 63892 broad.mit.edu 37 2 43519295 43519295 + Missense_Mutation SNP G G C rs34600960 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:43519295G>C uc002rsw.3 - 33 5237 c.4885C>G c.(4885-4887)CTG>GTG p.L1629V THADA_uc010far.2_Missense_Mutation_p.L824V|THADA_uc002rsx.3_Missense_Mutation_p.L1629V|THADA_uc002rsy.3_RNA NM_001083953 NP_001077422 Q6YHU6 THADA_HUMAN thyroid adenoma associated 1629 binding ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837) TTTGGGGTCAGATGGACACAG 0.488 NaN 0 0 0 0.009096 0 3 17 NRXN1 9378 broad.mit.edu 37 2 50779755 50779755 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:50779755G>A uc010fbq.2 - 9 3326 c.1849C>T c.(1849-1851)CAT>TAT p.H617Y NRXN1_uc002rxb.3_Missense_Mutation_p.H249Y|NRXN1_uc002rxe.3_Missense_Mutation_p.H577Y|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) AAGTCCACATGATACCATTCT 0.458 NaN 0 0 0 0.006214 0 8 173 ETAA1 54465 broad.mit.edu 37 2 67637048 67637048 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:67637048G>C uc002sdz.1 + 6 2798 c.2659G>C c.(2659-2661)GAA>CAA p.E887Q NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN ETAA16 protein 887 Poly-Glu. cytoplasm|nucleus ovary(3)|large_intestine(1) 4 TTTAGAGGAAGAAGAGAAAAA 0.333 NaN 0 0 0 0.001855 0 13 199 HTRA2 27429 broad.mit.edu 37 2 74757145 74757145 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:74757145G>A uc002smi.1 + 1 614 c.12G>A c.(10-12)CCG>CCA p.P4P AUP1_uc002sme.2_5'Flank|AUP1_uc002smf.2_5'Flank|AUP1_uc002smg.2_5'Flank|AUP1_uc002smh.2_5'Flank|AUP1_uc010yrx.1_5'Flank|AUP1_uc010yry.1_5'Flank|HTRA2_uc002smj.1_Silent_p.P4P|HTRA2_uc002smk.1_Silent_p.P4P|HTRA2_uc002sml.1_Silent_p.P4P|HTRA2_uc002smm.1_Intron|HTRA2_uc002smn.1_Intron|HTRA2_uc010ffl.2_5'Flank NM_013247 NP_037379 O43464 HTRA2_HUMAN HtrA serine peptidase 2 isoform 1 preproprotein 4 apoptosis|proteolysis|response to stress CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus serine-type endopeptidase activity|unfolded protein binding ovary(1) 1 TGGCTGCGCCGAGGGCGGGGC 0.741 NaN 0 0 0 0.004672 0 3 24 REV1 51455 broad.mit.edu 37 2 100019387 100019387 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:100019387G>A uc002tad.2 - 20 3561 c.3349C>T c.(3349-3351)CTA>TTA p.L1117L REV1_uc002tac.2_Silent_p.L1116L NM_016316 NP_057400 Q9UBZ9 REV1_HUMAN REV1-like isoform 1 1117 DNA replication|error-prone translesion synthesis|response to UV nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding ovary(2) 2 TCATGTTTTAGAAACCCATCA 0.408 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.013537 0 12 154 MAP3K2 10746 broad.mit.edu 37 2 128066317 128066317 + Nonsense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:128066317G>C uc002toj.1 - 15 1543 c.1478C>G c.(1477-1479)TCA>TGA p.S493* NM_006609 NP_006600 Q9Y2U5 M3K2_HUMAN mitogen-activated protein kinase kinase kinase 493 Protein kinase. activation of JUN kinase activity|cellular response to mechanical stimulus nucleus ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding lung(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 7 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0706) GTTGCCTGTTGAATCTCGCAG 0.433 NaN 0 0 0 0.001855 0 13 146 R3HDM1 23518 broad.mit.edu 37 2 136433011 136433011 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:136433011G>C uc002tuo.2 + 19 2527 c.2157G>C c.(2155-2157)CAG>CAC p.Q719H R3HDM1_uc010fni.2_Missense_Mutation_p.Q718H|R3HDM1_uc002tup.2_Missense_Mutation_p.Q664H|R3HDM1_uc010zbh.1_Missense_Mutation_p.Q467H NM_015361 NP_056176 Q15032 R3HD1_HUMAN R3H domain containing 1 719 nucleic acid binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(221;0.127) TTGGAAATCAGATTCAAGGAG 0.423 NaN 0 0 0 0.010729 0 10 135 ZEB2 9839 broad.mit.edu 37 2 145157492 145157492 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:145157492C>T uc002tvu.2 - 8 1742 c.1262G>A c.(1261-1263)GGA>GAA p.G421E ZEB2_uc002tvv.2_Missense_Mutation_p.G415E|ZEB2_uc010zbm.1_Missense_Mutation_p.G392E|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.G450E NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 421 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) GCTGGTGGCTCCAAGCCCACC 0.453 NaN 0 0 0 0.004007 0 17 99 TANC1 85461 broad.mit.edu 37 2 160035372 160035372 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:160035372C>T uc002uag.2 + 14 2482 c.2208C>T c.(2206-2208)CTC>CTT p.L736L TANC1_uc010fol.1_Silent_p.L630L|TANC1_uc010zcm.1_Silent_p.L728L|TANC1_uc010fom.1_Silent_p.L542L|TANC1_uc002uai.1_RNA NM_033394 NP_203752 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and 736 cell junction|postsynaptic density|postsynaptic membrane binding ovary(2)|central_nervous_system(1) 3 TCTCTGAGCTCTATTTGCTTC 0.552 NaN 0 0 0 0.008361 0 29 268 BAZ2B 29994 broad.mit.edu 37 2 160295645 160295645 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:160295645C>T uc002uao.2 - 7 1127 c.775G>A c.(775-777)GGC>AGC p.G259S BAZ2B_uc002uap.2_Missense_Mutation_p.G257S|BAZ2B_uc002uas.1_Missense_Mutation_p.G196S|BAZ2B_uc002uau.1_Missense_Mutation_p.G257S|BAZ2B_uc002uaq.1_Missense_Mutation_p.G187S|BAZ2B_uc002uat.3_Missense_Mutation_p.G196S|BAZ2B_uc010fop.1_Missense_Mutation_p.G257S NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 259 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CTACTAATGCCTTCACTTGAG 0.348 NaN 0 0 0 0.013726 0 35 235 C2orf77 129881 broad.mit.edu 37 2 170502533 170502533 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:170502533G>C uc002ufe.2 - 9 1571 c.1477C>G c.(1477-1479)CTT>GTT p.L493V NM_001085447 NP_001078916 Q0VFZ6 CB077_HUMAN hypothetical protein LOC129881 493 0 GCTTTTACAAGAGGGTAAATA 0.433 NaN 0 0 0 0.01441 0 71 174 TTN 7273 broad.mit.edu 37 2 179397871 179397871 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:179397871C>G uc010zfg.1 - 307 95991 c.95767G>C c.(95767-95769)GAA>CAA p.E31923Q uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E25618Q|TTN_uc010zfi.1_Missense_Mutation_p.E25551Q|TTN_uc010zfj.1_Missense_Mutation_p.E25426Q NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32850 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGTACACTTTCAGTTCCAGAA 0.433 NaN 0 0 0 0.00245 0 15 206 TTN 7273 broad.mit.edu 37 2 179477688 179477688 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:179477688A>G uc010zfg.1 - 214 42280 c.42056T>C c.(42055-42057)GTC>GCC p.V14019A uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V7714A|TTN_uc010zfi.1_Missense_Mutation_p.V7647A|TTN_uc010zfj.1_Missense_Mutation_p.V7522A NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14946 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CATTTCAATGACATAAGACTC 0.478 NaN 0 0 0 0.00308 0 8 62 DNER 92737 broad.mit.edu 37 2 230312236 230312236 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:230312236C>T uc002vpv.2 - 8 1429 c.1282G>A c.(1282-1284)GAA>AAA p.E428K DNER_uc010zly.1_Missense_Mutation_p.E156K NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 428 Extracellular (Potential).|EGF-like 5. central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) ACCTTTTCTTCACAAGCAGAT 0.483 NaN 0 0 0 0.009096 0 4 31 RBM44 375316 broad.mit.edu 37 2 238726510 238726510 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr2:238726510G>C uc002vxi.3 + 3 1083 c.951G>C c.(949-951)TTG>TTC p.L317F NM_001080504 NP_001073973 Q6ZP01 RBM44_HUMAN RNA binding motif protein 44 316 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) GTGGTTCCTTGAGCCCTCAAA 0.318 NaN 0 0 0 0.001168 0 6 48 UQCC 55245 broad.mit.edu 37 20 33969816 33969816 + Missense_Mutation SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:33969816T>C uc002xcd.2 - 4 305 c.238A>G c.(238-240)AAA>GAA p.K80E UQCC_uc010zuy.1_5'UTR|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.K80E|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.K80E|UQCC_uc010zvb.1_Intron|UQCC_uc002xcf.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.K34E|UQCC_uc010gfd.1_Missense_Mutation_p.K66E NM_018244 NP_060714 Q9NVA1 UQCC_HUMAN basic FGF-repressed Zic binding protein isoform 80 cytoplasmic membrane-bounded vesicle breast(1) 1 BRCA - Breast invasive adenocarcinoma(18;0.00252) GGGGAATCTTTGGTAGTAGAA 0.358 NaN 0 0 0 0.01441 0 91 251 IFT52 51098 broad.mit.edu 37 20 42271258 42271258 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:42271258G>C uc002xkw.2 + 13 1382 c.1260G>C c.(1258-1260)TTG>TTC p.L420F IFT52_uc002xky.2_Missense_Mutation_p.L420F|IFT52_uc002xkx.2_RNA|IFT52_uc010ggn.2_Missense_Mutation_p.L396F|IFT52_uc002xkz.2_Intron NM_016004 NP_057088 Q9Y366 IFT52_HUMAN intraflagellar transport 52 homolog 420 intraflagellar transport particle B|microtubule-based flagellum protein C-terminus binding ovary(2) 2 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) TCAAGAAATTGAACCAGGTAC 0.463 NaN 0 0 0 0.001984 0 5 60 MMP9 4318 broad.mit.edu 37 20 44640217 44640217 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:44640217C>G uc002xqz.2 + 6 847 c.828C>G c.(826-828)CTC>CTG p.L276L NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 276 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) CCCCAGGACTCTACACCCAGG 0.577 NaN OREG0025989 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 6 66 DDX27 55661 broad.mit.edu 37 20 47841697 47841697 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:47841697C>T uc002xuh.2 + 6 715 c.654C>T c.(652-654)CTC>CTT p.L218L NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 218 Q motif. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) ATGAAAACCTCTCGTTCCAGG 0.338 NaN 0 0 0 0.007413 0 17 238 STX16 8675 broad.mit.edu 37 20 57251299 57251299 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:57251299C>T uc002xzi.2 + 9 1665 c.930C>T c.(928-930)GTC>GTT p.V310V STX16_uc010zzq.1_Silent_p.V124V|STX16_uc002xzk.2_Silent_p.V293V|STX16_uc002xzm.2_Silent_p.V306V|STX16_uc002xzj.2_Silent_p.V289V|STX16_uc002xzl.2_Silent_p.V124V NM_001001433 NP_001001433 O14662 STX16_HUMAN syntaxin 16 isoform a 310 Helical; Anchor for type IV membrane protein; (Potential). intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity ovary(1) 1 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TATTATTTGTCATCATCATTG 0.448 NaN 0 0 0 0.00278 0 21 185 COL20A1 57642 broad.mit.edu 37 20 61944555 61944555 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:61944555C>T uc011aau.1 + 17 2263 c.2163C>T c.(2161-2163)TAC>TAT p.Y721Y COL20A1_uc011aav.1_Silent_p.Y542Y NM_020882 NP_065933 Q9P218 COKA1_HUMAN collagen, type XX, alpha 1 721 Fibronectin type-III 5. cell adhesion collagen|extracellular space structural molecule activity central_nervous_system(1) 1 all_cancers(38;1.39e-10) TGGCCTACTACAGGGACGGGG 0.657 NaN 0 0 0 0.009096 0 3 32 CLIC6 54102 broad.mit.edu 37 21 36088774 36088774 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr21:36088774G>A uc010gmt.1 + 7 2109 c.2109G>A c.(2107-2109)ATG>ATA p.M703I CLIC6_uc002yuf.1_Missense_Mutation_p.M685I NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN chloride intracellular channel 6 703 GST C-terminal. chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity ovary(1)|central_nervous_system(1) 2 CAAAAAGAATGAAATGAAGCT 0.373 NaN 0 0 0 0.001168 0 6 100 PSMG1 8624 broad.mit.edu 37 21 40547517 40547517 + Nonstop_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr21:40547517C>G uc002yxi.2 - 7 995 c.866G>C c.(865-867)TGA>TCA p.*289S PSMG1_uc002yxj.2_Nonstop_Mutation_p.*268S|PSMG1_uc010gob.2_Nonstop_Mutation_p.*202S NM_003720 NP_003711 O95456 PSMG1_HUMAN Down syndrome critical region protein 2 isoform 289 proteasome assembly endoplasmic reticulum protein binding 0 Prostate(19;8.44e-08) TGTTTAAGATCATGTATAAAT 0.333 NaN OREG0026220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.009096 0 3 77 PSMG1 8624 broad.mit.edu 37 21 40547542 40547542 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr21:40547542C>G uc002yxi.2 - 7 970 c.841G>C c.(841-843)GAG>CAG p.E281Q PSMG1_uc002yxj.2_Missense_Mutation_p.E260Q|PSMG1_uc010gob.2_Missense_Mutation_p.E194Q NM_003720 NP_003711 O95456 PSMG1_HUMAN Down syndrome critical region protein 2 isoform 281 proteasome assembly endoplasmic reticulum protein binding 0 Prostate(19;8.44e-08) CTCTGAATCTCATTTGTTGTC 0.368 NaN OREG0026220 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.000602 0 4 84 DSCAM 1826 broad.mit.edu 37 21 41427661 41427661 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr21:41427661C>G uc002yyq.1 - 29 5478 c.5026G>C c.(5026-5028)GAG>CAG p.E1676Q DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1676 Cytoplasmic (Potential). cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CCAATGGTCTCCATCGTGTCT 0.493 NaN 0 0 0 0.008871 0 20 68 CECR2 27443 broad.mit.edu 37 22 18022144 18022144 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:18022144C>G uc010gqw.1 + 15 2372 c.2246C>G c.(2245-2247)TCT>TGT p.S749C CECR2_uc010gqv.1_Missense_Mutation_p.S608C|CECR2_uc002zml.2_Missense_Mutation_p.S608C NM_031413 NP_113601 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 791 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding ovary(1)|skin(1) 2 all_epithelial(15;0.139) Lung(27;0.146) CGAGTACACTCTGCCGTCTGG 0.582 NaN 0 0 0 0.001984 0 7 43 SERPIND1 3053 broad.mit.edu 37 22 21140347 21140347 + Nonsense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:21140347G>T uc002ztb.1 + 4 1286 c.1219G>T c.(1219-1221)GAG>TAG p.E407* PI4KA_uc002zsz.3_Intron|SERPIND1_uc002ztc.2_Nonsense_Mutation_p.E435* NM_000185 NP_000176 P05546 HEP2_HUMAN heparin cofactor II precursor 407 blood coagulation|chemotaxis|regulation of proteolysis extracellular region heparin binding|serine-type endopeptidase inhibitor activity 0 all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196) Ardeparin(DB00407) CAATCTAGTGGAGTCCCTGAA 0.483 NaN 1 0 6.31663e-08 0.003163 6.78064e-08 15 198 TFIP11 24144 broad.mit.edu 37 22 26894901 26894901 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:26894901C>A uc003acr.2 - 9 1744 c.1370G>T c.(1369-1371)AGC>ATC p.S457I TFIP11_uc003acs.2_Missense_Mutation_p.S457I|TFIP11_uc003act.2_Missense_Mutation_p.S457I NM_012143 NP_036275 Q9UBB9 TFP11_HUMAN tuftelin interacting protein 11 457 biomineral tissue development catalytic step 2 spliceosome|cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity 0 CTCTAGGAGGCTTTTCCACTT 0.572 NaN 1 0 7.48243e-07 0.006214 7.9942e-07 10 253 SEC14L2 23541 broad.mit.edu 37 22 30806616 30806616 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:30806616C>G uc003ahr.2 + 8 785 c.612C>G c.(610-612)CTC>CTG p.L204L SEC14L2_uc003ahq.2_Silent_p.L204L|SEC14L2_uc011akx.1_Silent_p.L150L|SEC14L2_uc003ahs.2_Silent_p.L130L|SEC14L2_uc011aky.1_Silent_p.L121L|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Silent_p.L28L|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_RNA|MTP18_uc010gvx.1_5'UTR|MTP18_uc003ahv.1_Silent_p.L28L|MTP18_uc010gvy.1_Silent_p.L28L NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 204 CRAL-TRIO. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) CCTATAACCTCATCAAACCCT 0.527 NaN 0 0 0 0.009096 0 3 133 CYP2D6 1565 broad.mit.edu 37 22 42523515 42523515 + Silent SNP G G A rs149686350 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:42523515G>A uc003bce.2 - 7 1197 c.1107C>T c.(1105-1107)ATC>ATT p.I369I uc003bcd.1_Intron|CYP2D6_uc010gyu.2_Silent_p.I63I|CYP2D6_uc003bcf.2_Silent_p.I318I NM_000106 NP_000097 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, 369 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen breast(1)|skin(1) 2 CCAGGGGGACGATGTCCCCAA 0.612 NaN 0 0 0 0.000602 0 4 41 C22orf9 23313 broad.mit.edu 37 22 45593787 45593787 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:45593787G>A uc003bfx.1 - 9 1124 c.1058C>T c.(1057-1059)TCG>TTG p.S353L C22orf9_uc010gzw.1_Missense_Mutation_p.S205L|C22orf9_uc003bfv.1_Missense_Mutation_p.S362L|C22orf9_uc003bfw.1_Missense_Mutation_p.S358L|C22orf9_uc010gzx.2_Missense_Mutation_p.S335L NM_001009880 NP_001009880 Q6ICG6 K0930_HUMAN hypothetical protein LOC23313 isoform b 353 protein binding 0 Ovarian(80;0.00965)|all_neural(38;0.0244) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|READ - Rectum adenocarcinoma(1;0.000617)|Colorectal(1;0.0024) TCCTGTGCCCGACAGGGACCG 0.607 NaN 0 0 0 0.00245 0 13 91 CNTN6 27255 broad.mit.edu 37 3 1418703 1418703 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:1418703C>T uc003boz.2 + 17 2377 c.2110C>T c.(2110-2112)CCA>TCA p.P704S CNTN6_uc011asj.1_Missense_Mutation_p.P632S|CNTN6_uc003bpa.2_Missense_Mutation_p.P704S NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 704 Fibronectin type-III 2. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGTTGTGGCACCAGTAAACAT 0.378 NaN 0 0 0 0.004482 0 8 211 HRH1 3269 broad.mit.edu 37 3 11301597 11301597 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:11301597G>A uc010hdr.2 + 2 1216 c.874G>A c.(874-876)GAG>AAG p.E292K HRH1_uc010hds.2_Missense_Mutation_p.E292K|HRH1_uc010hdt.2_Missense_Mutation_p.E292K|HRH1_uc003bwb.3_Missense_Mutation_p.E292K NM_001098213 NP_001091683 P35367 HRH1_HUMAN histamine receptor H1 292 Cytoplasmic (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response cytoplasm|integral to plasma membrane|nucleus histamine receptor activity large_intestine(1)|ovary(1) 2 Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246) CTTCAGCCAAGAGGATGATAG 0.493 NaN 0 0 0 0.00308 0 8 127 IQSEC1 9922 broad.mit.edu 37 3 12977699 12977699 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:12977699C>T uc003bxt.2 - 3 868 c.859G>A c.(859-861)GGC>AGC p.G287S IQSEC1_uc003bxu.3_Missense_Mutation_p.G165S|IQSEC1_uc011auw.1_Missense_Mutation_p.G273S NM_014869 NP_055684 Q6DN90 IQEC1_HUMAN IQ motif and Sec7 domain 1 isoform b 287 regulation of ARF protein signal transduction cytoplasm|nucleus ARF guanyl-nucleotide exchange factor activity ovary(1) 1 TGGTCCATGCCGTGCAGGGCT 0.662 NaN 0 0 0 0.010729 0 12 97 FGD5 152273 broad.mit.edu 37 3 14861786 14861786 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:14861786G>C uc003bzc.2 + 1 1318 c.1208G>C c.(1207-1209)GGA>GCA p.G403A FGD5_uc011avk.1_Missense_Mutation_p.G403A NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 403 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 CTACAGGGTGGAGCGGCCGAG 0.632 NaN 0 0 0 0.004672 0 3 27 SUSD5 26032 broad.mit.edu 37 3 33194715 33194715 + Nonsense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:33194715G>C uc003cfo.1 - 5 1827 c.1409C>G c.(1408-1410)TCA>TGA p.S470* NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 470 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 GGGTAGAGTTGACTGGTACTT 0.517 NaN 0 0 0 0.004672 0 3 61 TRANK1 9881 broad.mit.edu 37 3 36874809 36874809 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:36874809C>T uc003cgj.2 - 12 4785 c.4483G>A c.(4483-4485)GAA>AAA p.E1495K NM_014831 NP_055646 O15050 TRNK1_HUMAN lupus brain antigen 1 2045 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|central_nervous_system(1) 2 AGGAGGATTTCCAAGCCCCCT 0.532 NaN 0 0 0 0.001984 0 6 91 SETD2 29072 broad.mit.edu 37 3 47158213 47158213 + Nonsense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:47158213G>A uc003cqs.2 - 4 4539 c.4486C>T c.(4486-4488)CGA>TGA p.R1496* SETD2_uc003cqv.2_Nonsense_Mutation_p.R1485* NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN SET domain containing 2 1496 AWS. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding kidney(24)|ovary(5)|skin(1)|central_nervous_system(1)|breast(1) 32 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CACTGCATTCGCTTAATATCT 0.313 NaN N|F|S|Mis clear cell renal carcinoma 0 0 0 0.010729 0 12 139 COL7A1 1294 broad.mit.edu 37 3 48609570 48609570 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:48609570C>T uc003ctz.2 - 90 7014 c.7013G>A c.(7012-7014)CGA>CAA p.R2338Q NM_000094 NP_000085 Q02388 CO7A1_HUMAN alpha 1 type VII collagen precursor 2338 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity ovary(4)|breast(3)|skin(3)|central_nervous_system(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTTCTCGCCTCGCGGCCCTGG 0.612 NaN 0 0 0 0.004482 0 7 30 ZMYND10 51364 broad.mit.edu 37 3 50379109 50379109 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:50379109C>T uc003dag.1 - 11 1289 c.1143G>A c.(1141-1143)CTG>CTA p.L381L RASSF1_uc003dad.1_5'Flank|RASSF1_uc003dae.1_5'Flank|RASSF1_uc010hlk.1_5'Flank|RASSF1_uc003daf.1_5'Flank|RASSF1_uc011bdq.1_5'Flank|ZMYND10_uc010hll.1_Silent_p.L376L NM_015896 NP_056980 O75800 ZMY10_HUMAN zinc finger, MYND domain-containing 10 381 cytoplasm protein binding|zinc ion binding lung(4)|ovary(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) CTAGCACATCCAGCCTGTAGG 0.612 NaN TSP Lung(30;0.18) 0 0 0 0.007413 0 12 67 STAB1 23166 broad.mit.edu 37 3 52547984 52547984 + Missense_Mutation SNP G G T rs149300853 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:52547984G>T uc003dej.2 + 32 3508 c.3434G>T c.(3433-3435)CGG>CTG p.R1145L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN stabilin 1 precursor 1145 FAS1 4.|Extracellular (Potential). cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity large_intestine(3)|upper_aerodigestive_tract(2)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 9 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) AGCCTCTTCCGGGAATTGCTG 0.652 NaN 1 0 1.49906e-05 0.00245 1.57193e-05 11 171 PDE12 201626 broad.mit.edu 37 3 57543244 57543244 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:57543244G>A uc003diw.3 + 1 1264 c.1138G>A c.(1138-1140)GAA>AAA p.E380K PDE12_uc003div.2_Missense_Mutation_p.E380K NM_177966 NP_808881 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 380 hydrolase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) CAAGCAGCACGAAGGCCTGGC 0.537 NaN 0 0 0 0.009096 0 4 74 FLNB 2317 broad.mit.edu 37 3 57994493 57994493 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:57994493C>G uc003djj.2 + 1 367 c.202C>G c.(202-204)CAG>GAG p.Q68E FLNB_uc010hne.2_Missense_Mutation_p.Q68E|FLNB_uc003djk.2_Missense_Mutation_p.Q68E|FLNB_uc010hnf.2_Missense_Mutation_p.Q68E NM_001457 NP_001448 O75369 FLNB_HUMAN filamin B isoform 2 68 Actin-binding.|CH 1. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1) 19 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) CAAGTACCATCAGCGGCCCAC 0.617 NaN 0 0 0 0.001168 0 5 124 PXK 54899 broad.mit.edu 37 3 58377546 58377546 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:58377546G>A uc003djz.1 + 7 686 c.587G>A c.(586-588)TGT>TAT p.C196Y PXK_uc003djx.1_Missense_Mutation_p.C196Y|PXK_uc003djy.1_Missense_Mutation_p.C179Y|PXK_uc003dka.1_Missense_Mutation_p.C196Y|PXK_uc003dkb.1_Missense_Mutation_p.C113Y|PXK_uc003dkc.1_Missense_Mutation_p.C179Y|PXK_uc011bfe.1_Missense_Mutation_p.C163Y|PXK_uc010hnj.1_Missense_Mutation_p.C163Y|PXK_uc003dkd.1_Missense_Mutation_p.C59Y|PXK_uc010hnk.1_Intron NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 196 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) GATTTTCAGTGTCTAATCAAA 0.383 NaN 0 0 0 0.014323 0 20 233 ACOX2 8309 broad.mit.edu 37 3 58508267 58508267 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:58508267C>T uc003dkl.2 - 12 1763 c.1588G>A c.(1588-1590)GAG>AAG p.E530K NM_003500 NP_003491 Q99424 ACOX2_HUMAN acyl-Coenzyme A oxidase 2 530 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity 0 BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156) TTCCAAGCCTCGTGCTGGTCA 0.532 NaN 0 0 0 0.005443 0 23 75 ATXN7 6314 broad.mit.edu 37 3 63938123 63938123 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:63938123C>T uc003dlw.3 + 5 1016 c.463C>T c.(463-465)CAG>TAG p.Q155* ATXN7_uc003dlv.2_Nonsense_Mutation_p.Q155*|ATXN7_uc010hnv.2_Nonsense_Mutation_p.Q155* NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 155 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) CGACTGTAATCAGGTTGTCAA 0.373 NaN 0 0 0 0.00245 0 14 175 ATXN7 6314 broad.mit.edu 37 3 63975994 63975994 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:63975994G>A uc003dlw.3 + 10 2057 c.1504G>A c.(1504-1506)GAG>AAG p.E502K ATXN7_uc003dlv.2_Missense_Mutation_p.E502K|ATXN7_uc010hnv.2_Missense_Mutation_p.E502K|ATXN7_uc011bfn.1_Missense_Mutation_p.E357K NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 502 cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) TGACAAAGAAGAGTCTGTTGA 0.552 NaN 0 0 0 0.001168 0 5 103 C3orf64 285203 broad.mit.edu 37 3 69027583 69027583 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:69027583G>A uc003dnl.2 - 17 1743 c.1338C>T c.(1336-1338)TAC>TAT p.Y446Y C3orf64_uc003dnj.2_Silent_p.Y125Y|C3orf64_uc003dnk.2_Silent_p.Y362Y|C3orf64_uc011bfw.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 446 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) CTTCACAGTTGTACCTAAGGA 0.453 NaN 0 0 0 0.010729 0 12 138 FOXP1 27086 broad.mit.edu 37 3 71050197 71050197 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:71050197C>G uc003dol.2 - 9 1311 c.988G>C c.(988-990)GAG>CAG p.E330Q FOXP1_uc003dom.2_Missense_Mutation_p.E254Q|FOXP1_uc003don.2_RNA|FOXP1_uc003doo.2_Missense_Mutation_p.E330Q|FOXP1_uc003dop.2_Missense_Mutation_p.E330Q|FOXP1_uc003doq.1_Missense_Mutation_p.E329Q|FOXP1_uc003doi.2_Missense_Mutation_p.E230Q|FOXP1_uc003doj.2_Missense_Mutation_p.E230Q|FOXP1_uc003dok.2_Missense_Mutation_p.E143Q|FOXP1_uc003dor.1_Missense_Mutation_p.E108Q NM_032682 NP_116071 Q9H334 FOXP1_HUMAN forkhead box P1 isoform 1 330 C2H2-type. cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development cytoplasm|transcription factor complex chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding ovary(1)|lung(1) 2 Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209) BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05) AGCGCATGCTCACTGTTGAGA 0.353 NaN T PAX5 ALL 0 0 0 0.008291 0 9 123 OR5K1 26339 broad.mit.edu 37 3 98188798 98188798 + Silent SNP A A C rs112214721 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:98188798A>C uc003dsm.2 + 1 378 c.378A>C c.(376-378)ATA>ATC p.I126I NM_001004736 NP_001004736 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, 126 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(1) 1 ATGTGGCCATATGCAACCCAC 0.468 NaN 0 0 0 0.009535 0 31 247 OR5K2 402135 broad.mit.edu 37 3 98216586 98216586 + Missense_Mutation SNP C C T rs143260385 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:98216586C>T uc011bgx.1 + 1 62 c.62C>T c.(61-63)CCT>CTT p.P21L NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 21 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 ACAGATCACCCTGAGCTGAAG 0.413 NaN 0 0 0 0.00245 0 14 256 MYH15 22989 broad.mit.edu 37 3 108129603 108129603 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:108129603G>C uc003dxa.1 - 32 4439 c.4382C>G c.(4381-4383)TCT>TGT p.S1461C NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 1461 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 GGCCTTGCCAGACTGCAGCTG 0.632 NaN 0 0 0 0.001168 0 5 67 DPPA4 55211 broad.mit.edu 37 3 109050829 109050829 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:109050829C>T uc003dxq.3 - 3 283 c.228G>A c.(226-228)CAG>CAA p.Q76Q DPPA4_uc011bho.1_Silent_p.Q76Q|DPPA4_uc011bhp.1_Silent_p.Q76Q NM_018189 NP_060659 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 76 nucleus protein binding upper_aerodigestive_tract(1) 1 GTATCTTCTTCTGAGGTCTGG 0.458 NaN 0 0 0 0.004289 0 35 228 GOLGB1 2804 broad.mit.edu 37 3 121412961 121412961 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:121412961C>G uc003eei.3 - 13 6520 c.6394G>C c.(6394-6396)GAG>CAG p.E2132Q GOLGB1_uc010hrc.2_Missense_Mutation_p.E2137Q|GOLGB1_uc003eej.3_Missense_Mutation_p.E2098Q|GOLGB1_uc011bjm.1_Missense_Mutation_p.E2018Q|GOLGB1_uc010hrd.1_Missense_Mutation_p.E2096Q NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2132 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) AGGTGCTTCTCTTCTGCCTGT 0.398 NaN 0 0 0 0.01441 0 72 577 GOLGB1 2804 broad.mit.edu 37 3 121413280 121413280 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:121413280C>T uc003eei.3 - 13 6201 c.6075G>A c.(6073-6075)CAG>CAA p.Q2025Q GOLGB1_uc010hrc.2_Silent_p.Q2030Q|GOLGB1_uc003eej.3_Silent_p.Q1991Q|GOLGB1_uc011bjm.1_Silent_p.Q1911Q|GOLGB1_uc010hrd.1_Silent_p.Q1989Q NM_004487 NP_004478 Q14789 GOGB1_HUMAN golgi autoantigen, golgin subfamily b, 2025 Cytoplasmic (Potential).|Potential. Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding ovary(6)|breast(2)|skin(2) 10 GBM - Glioblastoma multiforme(114;0.0989) TGCAGTCCTTCTGTAGCTGCT 0.358 NaN 0 0 0 0.009535 0 31 363 KPNA1 3836 broad.mit.edu 37 3 122186201 122186201 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:122186201C>T uc003efd.1 - 3 241 c.205G>A c.(205-207)GAG>AAG p.E69K KPNA1_uc011bjr.1_5'UTR|KPNA1_uc010hrh.2_5'UTR|KPNA1_uc003efe.2_Missense_Mutation_p.E69K NM_002264 NP_002255 P52294 IMA1_HUMAN karyopherin alpha 1 69 DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle cytosol|nuclear pore|nucleoplasm nuclear localization sequence binding|protein binding|protein transporter activity 0 GBM - Glioblastoma multiforme(114;0.0898) ATCTGAGCCTCATGAAAGCCT 0.363 NaN 0 0 0 0.00308 0 8 95 PDIA5 10954 broad.mit.edu 37 3 122811201 122811201 + Splice_Site SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:122811201G>A uc003egc.1 + 3 226 c.170_splice c.e3-1 p.E57_splice PDIA5_uc003egd.1_Splice_Site NM_006810 NP_006801 Q14554 PDIA5_HUMAN protein disulfide isomerase A5 precursor cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity ovary(1) 1 GBM - Glioblastoma multiforme(114;0.0427) TTTTTTTACAGAGGTGGCAGC 0.502 NaN 0 0 0 0.006214 0 10 104 PLSCR5 389158 broad.mit.edu 37 3 146311797 146311797 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:146311797C>T uc003ewb.2 - 4 1367 c.363G>A c.(361-363)CTG>CTA p.L121L PLSCR5_uc010hvb.2_Silent_p.L109L|PLSCR5_uc010hvc.2_Silent_p.L121L NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN phospholipid scramblase family, member 5 121 0 CTGTGATCCTCAGGGTGCAAG 0.453 NaN 0 0 0 0.008291 0 11 223 SAMD7 344658 broad.mit.edu 37 3 169644760 169644760 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:169644760C>T uc003fgd.2 + 6 977 c.710C>T c.(709-711)TCA>TTA p.S237L SAMD7_uc003fge.2_Missense_Mutation_p.S237L|SAMD7_uc011bpo.1_Missense_Mutation_p.S138L NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 237 skin(1) 1 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) AACCAGAAGTCAAGTGAAACG 0.498 NaN 0 0 0 0.012319 0 22 124 SPATA16 83893 broad.mit.edu 37 3 172643146 172643146 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:172643146C>G uc003fin.3 - 7 1376 c.1218G>C c.(1216-1218)CCG>CCC p.P406P NM_031955 NP_114161 Q9BXB7 SPT16_HUMAN spermatogenesis associated 16 406 cell differentiation|multicellular organismal development|spermatogenesis Golgi apparatus binding ovary(2)|skin(1) 3 Ovarian(172;0.00319)|Breast(254;0.197) LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14) CTGTGAATATCGGCAGCTTCC 0.373 NaN 0 0 0 0.004672 0 3 92 USP13 8975 broad.mit.edu 37 3 179448467 179448467 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:179448467C>G uc003fkh.2 + 10 1305 c.1224C>G c.(1222-1224)CTC>CTG p.L408L USP13_uc003fkf.2_Silent_p.L408L NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 408 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) AATCTGAACTCATTGAACAGG 0.468 NaN 0 0 0 0.008291 0 8 95 PEX5L 51555 broad.mit.edu 37 3 179526147 179526147 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:179526147C>G uc003fki.1 - 13 1561 c.1431G>C c.(1429-1431)CAG>CAC p.Q477H PEX5L_uc011bqd.1_Missense_Mutation_p.Q434H|PEX5L_uc011bqe.1_Missense_Mutation_p.Q285H|PEX5L_uc011bqf.1_Missense_Mutation_p.Q369H|PEX5L_uc003fkj.1_Missense_Mutation_p.Q442H|PEX5L_uc010hxd.1_Missense_Mutation_p.Q475H|PEX5L_uc011bqg.1_Missense_Mutation_p.Q453H|PEX5L_uc011bqh.1_Missense_Mutation_p.Q418H NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 477 TPR 3. protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding ovary(3)|large_intestine(1) 4 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CTAGACCTGTCTGCAGGTCTG 0.443 NaN 0 0 0 0.010729 0 11 159 KLHL6 89857 broad.mit.edu 37 3 183217456 183217456 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:183217456C>G uc003flr.2 - 4 1127 c.1069G>C c.(1069-1071)GAG>CAG p.E357Q KLHL6_uc003fls.1_RNA|KLHL6_uc003flt.1_Intron NM_130446 NP_569713 Q8WZ60 KLHL6_HUMAN kelch-like 6 357 Kelch 1. 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) AGCTCATGCTCTGTTAGCGGG 0.552 NaN 0 0 0 0.004007 0 15 218 TRA2B 6434 broad.mit.edu 37 3 185636158 185636158 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr3:185636158G>A uc003fpv.2 - 8 1127 c.851C>T c.(850-852)TCA>TTA p.S284L TRA2B_uc003fpt.2_RNA|TRA2B_uc003fpu.2_RNA|TRA2B_uc010hym.2_Missense_Mutation_p.S184L|TRA2B_uc003fpw.2_Missense_Mutation_p.S264L NM_004593 NP_004584 P62995 TRA2B_HUMAN splicing factor, arginine/serine-rich 10 284 Arg/Ser-rich (RS2 domain). nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|protein binding|RNA binding ovary(2) 2 CTTACGAGGTGAGTATGATCG 0.378 NaN 0 0 0 0.004482 0 8 167 ZNF595 152687 broad.mit.edu 37 4 87139 87139 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:87139A>G uc003fzv.1 + 6 1901 c.1745A>G c.(1744-1746)CAT>CGT p.H582R ZNF595_uc003fzu.1_Intron|ZNF718_uc003fzt.3_Intron|ZNF595_uc011bus.1_Missense_Mutation_p.H350R|ZNF595_uc011but.1_Missense_Mutation_p.H350R NM_182524 NP_872330 Q7Z3I0 Q7Z3I0_HUMAN zinc finger protein 595 582 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding 0 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) CTTACTAAACATAAGAGAATT 0.373 NaN 0 0 0 0.006122 0 19 49 WHSC1 7468 broad.mit.edu 37 4 1980413 1980413 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:1980413C>T uc003gdz.3 + 22 4051 c.3875C>T c.(3874-3876)TCG>TTG p.S1292L WHSC1_uc003geb.3_Missense_Mutation_p.S1292L|WHSC1_uc003gec.3_Missense_Mutation_p.S1292L|WHSC1_uc003ged.3_Missense_Mutation_p.S1292L|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gei.3_Missense_Mutation_p.S511L|WHSC1_uc011bvh.1_Missense_Mutation_p.S353L|WHSC1_uc010icf.2_Missense_Mutation_p.S640L NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 1292 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) GGCAAACCTTCGACTTCATTT 0.542 NaN T IGH@ MM 0 0 0 0.010729 0 12 89 KIAA0232 9778 broad.mit.edu 37 4 6873346 6873346 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:6873346G>A uc003gjr.3 + 8 4310 c.3847G>A c.(3847-3849)GAA>AAA p.E1283K KIAA0232_uc003gjq.3_Missense_Mutation_p.E1283K NM_014743 NP_055558 Q92628 K0232_HUMAN hypothetical protein LOC9778 1283 ATP binding ovary(2) 2 TAGAAGTCAAGAAAAACAGAC 0.353 NaN 0 0 0 0.003163 0 15 107 TLR6 10333 broad.mit.edu 37 4 38831092 38831092 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:38831092C>T uc003gtm.2 - 1 69 c.3G>A c.(1-3)ATG>ATA p.M1I TLR6_uc010ifg.1_Missense_Mutation_p.M1I NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 1 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 TGTCTTTGGTCATGATGTTGC 0.343 NaN 0 0 0 0.000602 0 5 165 PDS5A 23244 broad.mit.edu 37 4 39905710 39905710 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:39905710C>T uc003guv.3 - 12 1875 c.1335G>A c.(1333-1335)TGG>TGA p.W445* PDS5A_uc010ifo.2_Nonsense_Mutation_p.W405*|PDS5A_uc003guw.3_Nonsense_Mutation_p.W445* NM_001100399 NP_001093869 Q29RF7 PDS5A_HUMAN PDS5, regulator of cohesion maintenance, homolog 445 cell division|mitosis|negative regulation of DNA replication chromatin|nucleus identical protein binding 0 TGTCCTTTATCCAGCTGACTT 0.383 NaN 0 0 0 0.009096 0 3 34 PPBP 5473 broad.mit.edu 37 4 74853297 74853297 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:74853297G>A uc003hhj.2 - 2 301 c.221C>T c.(220-222)CCC>CTC p.P74L NM_002704 NP_002695 P02775 CXCL7_HUMAN pro-platelet basic protein precursor 74 chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division extracellular space|platelet alpha granule lumen chemokine activity|glucose transmembrane transporter activity|growth factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(15;0.00136) all cancers(17;0.00273)|Lung(101;0.196) GATGTTTTTGGGATGAATTCC 0.393 NaN 0 0 0 0.00632 0 27 72 CNOT6L 246175 broad.mit.edu 37 4 78663304 78663304 + Missense_Mutation SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:78663304T>C uc011ccd.1 - 8 994 c.863A>G c.(862-864)AAA>AGA p.K288R CNOT6L_uc003hks.2_Missense_Mutation_p.K288R|CNOT6L_uc003hkt.1_Missense_Mutation_p.K131R|CNOT6L_uc011cce.1_3'UTR NM_144571 NP_653172 Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 288 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding large_intestine(1) 1 CTTTTCTGTTTTGAAGAATAT 0.338 NaN 0 0 0 0.001984 0 6 31 BMP3 651 broad.mit.edu 37 4 81967324 81967324 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:81967324C>T uc003hmg.3 + 2 1069 c.749C>T c.(748-750)TCT>TTT p.S250F NM_001201 NP_001192 P12645 BMP3_HUMAN bone morphogenetic protein 3 preproprotein 250 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(4)|central_nervous_system(1) 5 GCCGCCATTTCTGAGCCAGAA 0.473 NaN 0 0 0 0.004007 0 15 114 COPS4 51138 broad.mit.edu 37 4 83996452 83996452 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:83996452C>T uc003hoa.2 + 10 1229 c.1090C>T c.(1090-1092)CGA>TGA p.R364* COPS4_uc003hob.2_Missense_Mutation_p.T413M|COPS4_uc010ijw.2_Nonsense_Mutation_p.R396*|COPS4_uc010ijx.2_Silent_p.H335H NM_016129 NP_057213 Q9BT78 CSN4_HUMAN COP9 signalosome subunit 4 364 cullin deneddylation cytoplasm|signalosome protein binding kidney(1) 1 Hepatocellular(203;0.114) CCCCTTAGCACGAGAAGCCCT 0.363 NaN 0 0 0 0.000602 0 5 54 ZNF330 27309 broad.mit.edu 37 4 142147922 142147922 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:142147922G>A uc003iiq.3 + 5 433 c.213G>A c.(211-213)GGG>GGA p.G71G ZNF330_uc011chl.1_Silent_p.G11G NM_014487 NP_055302 Q9Y3S2 ZN330_HUMAN zinc finger protein 330 71 C4-type 2 (Potential). chromosome, centromeric region|midbody|nucleolus protein binding|zinc ion binding 0 all_hematologic(180;0.162) CTTCATTAGGGAAAACAAAGT 0.393 NaN 0 0 0 0.003954 0 24 109 PLRG1 5356 broad.mit.edu 37 4 155458505 155458505 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:155458505G>C uc003iny.2 - 14 1481 c.1418C>G c.(1417-1419)TCT>TGT p.S473C PLRG1_uc003inz.2_Missense_Mutation_p.S464C NM_002669 NP_002660 O43660 PLRG1_HUMAN pleiotropic regulator 1 (PRL1 homolog, 473 WD 7. catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity 0 all_hematologic(180;0.215) Renal(120;0.0854) TCGACTTTCAGACTGATCAAA 0.408 NaN 0 0 0 0.003163 0 15 41 FGA 2243 broad.mit.edu 37 4 155507881 155507881 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:155507881G>C uc003iod.1 - 5 758 c.700C>G c.(700-702)CCC>GCC p.P234A FGA_uc003ioe.1_Missense_Mutation_p.P234A|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 234 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) AAATTTCCGGGAACCAAGTCT 0.458 NaN 0 0 0 0.004672 0 3 137 HMGB2 3148 broad.mit.edu 37 4 174254744 174254744 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:174254744G>A uc011ckc.1 - 1 177 c.57C>T c.(55-57)TTC>TTT p.F19F HMGB2_uc003ita.3_Silent_p.F19F|HMGB2_uc003itb.2_Silent_p.F19F|HMGB2_uc003itc.2_Silent_p.F19F NM_001130689 NP_001124161 P26583 HMGB2_HUMAN high-mobility group box 2 19 HMG box 1. base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding 0 Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122) all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) AGGTCTGCACGAAGAAGGCGT 0.582 NaN 0 0 0 0.001984 0 7 70 ODZ3 55714 broad.mit.edu 37 4 183675804 183675804 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:183675804G>C uc003ivd.1 + 21 4321 c.4284G>C c.(4282-4284)CGG>CGC p.R1428R ODZ3_uc003ive.1_Silent_p.R841R NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1428 Extracellular (Potential).|NHL 4. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AAATTAACCGGATAAGGCAGG 0.478 NaN 0 0 0 0.004672 0 3 36 SNX25 83891 broad.mit.edu 37 4 186278863 186278863 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr4:186278863C>T uc003ixh.2 + 16 2320 c.2131C>T c.(2131-2133)CAG>TAG p.Q711* SNX25_uc010ish.2_Nonsense_Mutation_p.Q427*|SNX25_uc003ixi.2_Nonsense_Mutation_p.Q215* NM_031953 NP_114159 Q9H3E2 SNX25_HUMAN sorting nexin 25 711 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity ovary(2)|breast(2)|pancreas(1) 5 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) TGCCCTCGTTCAGGTCACTTT 0.368 NaN 0 0 0 0.006214 0 10 104 DNAH5 1767 broad.mit.edu 37 5 13865914 13865914 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:13865914C>G uc003jfd.2 - 27 4260 c.4218G>C c.(4216-4218)AAG>AAC p.K1406N NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1406 Stem (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) TTAGTTGCTTCTTTATTTCAA 0.343 NaN Kartagener_syndrome 0 0 0 0.008871 0 19 113 NIPBL 25836 broad.mit.edu 37 5 37045560 37045560 + Nonsense_Mutation SNP T T A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:37045560T>A uc003jkl.3 + 37 6858 c.6359T>A c.(6358-6360)TTA>TAA p.L2120* NIPBL_uc003jkk.3_Nonsense_Mutation_p.L2120* NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN delangin isoform A 2120 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding ovary(4)|lung(2)|large_intestine(1)|breast(1)|kidney(1) 9 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) ATTTCAAAATTAAAAAGTCAA 0.303 NaN 0 0 0 0.01441 0 51 151 WDR70 55100 broad.mit.edu 37 5 37703084 37703084 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:37703084C>G uc003jkv.2 + 13 1369 c.1311C>G c.(1309-1311)CTC>CTG p.L437L NM_018034 NP_060504 Q9NW82 WDR70_HUMAN WD repeat domain 70 437 WD 6. ovary(1)|central_nervous_system(1) 2 all_lung(31;0.000285) COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGATAAGCTCATAGTCACTG 0.413 NaN 0 0 0 0.00308 0 8 130 LIFR 3977 broad.mit.edu 37 5 38484884 38484884 + Nonsense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:38484884G>A uc010ive.1 - 18 2916 c.2584C>T c.(2584-2586)CGA>TGA p.R862* LIFR_uc003jli.2_Nonsense_Mutation_p.R862* NM_001127671 NP_001121143 P42702 LIFR_HUMAN leukemia inhibitory factor receptor precursor 862 Cytoplasmic (Potential). positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity ovary(3)|large_intestine(1) 4 all_lung(31;0.00021) TACCATTCTCGTTTCCGATAG 0.363 NaN T PLAG1 salivary adenoma 0 0 0 0.009096 0 4 29 ZNF131 7690 broad.mit.edu 37 5 43161885 43161885 + Silent SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:43161885A>G uc011cpw.1 + 5 942 c.906A>G c.(904-906)GCA>GCG p.A302A ZNF131_uc010ivl.1_Silent_p.A268A|ZNF131_uc003jnj.3_Silent_p.A23A|ZNF131_uc003jnk.2_Silent_p.A268A|ZNF131_uc003jnn.3_Silent_p.A23A|ZNF131_uc003jnl.1_Intron|ZNF131_uc010ivm.1_Intron NM_003432 NP_003423 P52739 ZN131_HUMAN zinc finger protein 131 302 C2H2-type 2. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GAGAGAGCGCATGGAAACAGC 0.373 NaN 0 0 0 0.010504 0 21 65 FST 10468 broad.mit.edu 37 5 52778823 52778823 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:52778823G>C uc003jpd.2 + 2 226 c.199G>C c.(199-201)GAG>CAG p.E67Q FST_uc003jpc.2_Missense_Mutation_p.E67Q NM_013409 NP_037541 P19883 FST_HUMAN follistatin isoform FST344 precursor 67 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development extracellular region activin binding|protein binding|signal transducer activity 0 Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05) CTCGTGGACCGAGGAGGACGT 0.587 NaN OREG0016608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00308 0 8 28 DHX29 54505 broad.mit.edu 37 5 54579357 54579357 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:54579357C>T uc003jpx.2 - 11 1759 c.1639G>A c.(1639-1641)GAA>AAA p.E547K DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 547 ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) CTAACAGGTTCCAAATCTTCC 0.398 NaN 0 0 0 0.003163 0 16 224 DHX29 54505 broad.mit.edu 37 5 54579455 54579455 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:54579455C>G uc003jpx.2 - 11 1661 c.1541G>C c.(1540-1542)AGA>ACA p.R514T DHX29_uc010ivw.2_RNA NM_019030 NP_061903 Q7Z478 DHX29_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 29 514 Potential. ATP binding|ATP-dependent helicase activity|translation initiation factor activity ovary(2)|central_nervous_system(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183) AGAGTTTTCTCTCTTATTTTC 0.378 NaN 0 0 0 0.010504 0 21 165 TAF9 6880 broad.mit.edu 37 5 68661350 68661350 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:68661350C>T uc003jwc.1 - 2 547 c.215G>A c.(214-216)CGA>CAA p.R72Q TAF9_uc003jwa.2_Intron|TAF9_uc003jwb.2_Intron|TAF9_uc003jwd.1_Missense_Mutation_p.R72Q|TAF9_uc003jwe.1_Missense_Mutation_p.R72Q|TAF9_uc003jwf.1_Missense_Mutation_p.R72Q NM_003187 NP_003178 Q16594 TAF9_HUMAN TAF9 RNA polymerase II, TATA box binding 72 histone H3 acetylation|negative regulation of apoptosis|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of cell growth|positive regulation of response to cytokine stimulus|positive regulation of transcription from RNA polymerase II promoter|response to interleukin-1|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction MLL1 complex|PCAF complex|pre-snoRNP complex|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex activating transcription factor binding|C2H2 zinc finger domain binding|p53 binding|transcription coactivator activity|transcription regulatory region DNA binding 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176) GATTGCCAATCGCACATCATC 0.418 NaN 0 0 0 0.00245 0 14 144 POLK 51426 broad.mit.edu 37 5 74869692 74869692 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:74869692G>C uc003kdw.2 + 5 634 c.538G>C c.(538-540)GAG>CAG p.E180Q POLK_uc003kdx.2_RNA|POLK_uc003kdy.2_RNA|POLK_uc003kea.2_Missense_Mutation_p.E180Q|POLK_uc003keb.2_Missense_Mutation_p.E180Q|POLK_uc010izq.2_Missense_Mutation_p.E180Q|POLK_uc003kec.2_Missense_Mutation_p.E90Q|POLK_uc010izr.2_RNA|POLK_uc010izs.2_RNA|POLK_uc003ked.2_Missense_Mutation_p.E90Q|POLK_uc003kee.2_Missense_Mutation_p.E180Q|POLK_uc003kef.2_Missense_Mutation_p.E90Q NM_016218 NP_057302 Q9UBT6 POLK_HUMAN DNA-directed DNA polymerase kappa 180 UmuC. DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding ovary(2)|kidney(2) 4 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) TGTGAGTAAAGAGGTAAGTTA 0.458 NaN DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage 0 0 0 0.009096 0 4 69 POC5 134359 broad.mit.edu 37 5 74970317 74970317 + Silent SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:74970317G>C uc003keh.3 - 12 1868 c.1671C>G c.(1669-1671)ACC>ACG p.T557T POC5_uc010izu.2_Silent_p.T381T|POC5_uc003keg.3_Silent_p.T532T NM_001099271 NP_001092741 Q8NA72 POC5_HUMAN proteome of centriole 5 isoform 1 557 cell cycle centriole lung(1) 1 GAGCTGATCTGGTTCCAAGTG 0.433 NaN 0 0 0 0.00874 0 43 185 FBN2 2201 broad.mit.edu 37 5 127609548 127609548 + Silent SNP G G A rs28763922 byFrequency TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:127609548G>A uc003kuu.2 - 61 8263 c.7824C>T c.(7822-7824)ACC>ACT p.T2608T NM_001999 NP_001990 P35556 FBN2_HUMAN fibrillin 2 precursor 2608 EGF-like 44; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1) 15 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) AGTTCAGTCCGGTGGCATCAA 0.393 NaN 0 0 0 0.000602 0 4 66 FNIP1 96459 broad.mit.edu 37 5 131007915 131007915 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:131007915G>A uc003kvs.1 - 14 2364 c.2222C>T c.(2221-2223)TCA>TTA p.S741L RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.S713L|FNIP1_uc010jdm.1_Missense_Mutation_p.S696L NM_133372 NP_588613 Q8TF40 FNIP1_HUMAN folliculin interacting protein 1 isoform 1 741 regulation of protein phosphorylation cytoplasm protein binding pancreas(1)|skin(1) 2 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) ACAAGAAAATGAAGCAGGCAC 0.453 NaN 0 0 0 0.008871 0 21 199 SLC25A2 83884 broad.mit.edu 37 5 140683215 140683215 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:140683215G>A uc003ljf.2 - 1 398 c.218C>T c.(217-219)GCC>GTC p.A73V NM_031947 NP_114153 Q9BXI2 ORNT2_HUMAN solute carrier family 25 member 2 73 Helical; Name=2; (Potential).|Solcar 1. mitochondrial ornithine transport|urea cycle integral to membrane|mitochondrial inner membrane L-ornithine transmembrane transporter activity ovary(1) 1 all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;0.00204) L-Ornithine(DB00129) GGCGACGTAGGCCATAAGTGC 0.572 NaN 0 0 0 0.000602 0 5 78 GRXCR2 643226 broad.mit.edu 37 5 145239353 145239353 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:145239353C>T uc003lns.1 - 3 690 c.690G>A c.(688-690)CTG>CTA p.L230L NM_001080516 NP_001073985 A6NFK2 GRCR2_HUMAN glutaredoxin, cysteine rich 2 230 0 CAGGGCACCTCAGGGCCCGAT 0.547 NaN 0 0 0 0.001984 0 7 66 GPR151 134391 broad.mit.edu 37 5 145894520 145894520 + Missense_Mutation SNP A A T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:145894520A>T uc003lod.1 - 1 1157 c.1157T>A c.(1156-1158)GTA>GAA p.V386E NM_194251 NP_919227 Q8TDV0 GP151_HUMAN G protein-coupled receptor 151 386 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AAACTGCTCTACGTCAGGAAG 0.502 NaN 0 0 0 0.00278 0 23 49 G3BP1 10146 broad.mit.edu 37 5 151169904 151169904 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr5:151169904C>T uc003lun.2 + 3 287 c.116C>T c.(115-117)TCT>TTT p.S39F G3BP1_uc010jhy.1_Missense_Mutation_p.S39F|G3BP1_uc003lum.2_Missense_Mutation_p.S39F|G3BP1_uc011dcu.1_5'UTR|G3BP1_uc010jhz.2_5'UTR NM_005754 NP_005745 Q13283 G3BP1_HUMAN Ras-GTPase-activating protein SH3-domain-binding 39 NTF2. Ras protein signal transduction|transport cytosol|nucleus|plasma membrane ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding skin(3)|ovary(1) 4 all_hematologic(541;0.0338)|Medulloblastoma(196;0.091) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) AAGAACTCTTCTTATGTCCAT 0.368 NaN 0 0 0 0.000602 0 5 50 FOXQ1 94234 broad.mit.edu 37 6 1313343 1313343 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS RNASeq Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:1313343C>T uc003mtl.3 + 1 669 c.404C>T c.(403-405)TCG>TTG p.S135L NM_033260 NP_150285 Q9C009 FOXQ1_HUMAN forkhead box Q1 135 Fork-head. DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding 0 Ovarian(93;0.0733) Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18) ATCCGCGACTCGGCGGGCGGG 0.592 NaN 0 0 0 0.006122 0 8 9 NUP153 9972 broad.mit.edu 37 6 17669713 17669713 + Nonsense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:17669713G>T uc003ncd.1 - 6 1117 c.917C>A c.(916-918)TCA>TAA p.S306* NUP153_uc011dje.1_Nonsense_Mutation_p.S306*|NUP153_uc010jpl.1_Nonsense_Mutation_p.S306* NM_005124 NP_005115 P49790 NU153_HUMAN nucleoporin 153kDa 306 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding lung(4)|ovary(2)|breast(2)|skin(1) 9 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) CCGAGCTGTTGAACTGGTCAC 0.373 NaN 1 0 0.00024832 0.009096 0.000258595 4 115 ALDH5A1 7915 broad.mit.edu 37 6 24503595 24503595 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:24503595C>T uc003neg.2 + 3 571 c.543C>T c.(541-543)ACC>ACT p.T181T ALDH5A1_uc003nef.2_Silent_p.T181T NM_001080 NP_001071 P51649 SSDH_HUMAN aldehyde dehydrogenase 5A1 isoform 2 precursor 181 acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process mitochondrial matrix|soluble fraction succinate-semialdehyde dehydrogenase activity 0 Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139) TTATCCACACCCCGGCAAAGG 0.572 NaN 0 0 0 0.010729 0 3 35 BTN2A1 11120 broad.mit.edu 37 6 26468591 26468591 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:26468591G>A uc003nib.1 + 8 1610 c.1398G>A c.(1396-1398)ATG>ATA p.M466I BTN2A1_uc003nic.1_3'UTR|BTN2A1_uc003nid.1_Missense_Mutation_p.M314I|BTN2A1_uc011dko.1_Missense_Mutation_p.M405I|BTN2A1_uc010jqk.1_Missense_Mutation_p.M226I NM_007049 NP_008980 Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 isoform 1 466 Cytoplasmic (Potential).|B30.2/SPRY. lipid metabolic process integral to plasma membrane ovary(1)|skin(1) 2 TCTACAACATGAGGGACAGAT 0.552 NaN 0 0 0 0.001168 0 5 163 OR2B6 26212 broad.mit.edu 37 6 27925387 27925387 + Missense_Mutation SNP T T A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:27925387T>A uc011dkx.1 + 1 369 c.369T>A c.(367-369)TTT>TTA p.F123L NM_012367 NP_036499 P58173 OR2B6_HUMAN olfactory receptor, family 2, subfamily B, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTGATAGGTTTGTAGCTATTT 0.473 NaN 0 0 0 0.00623 0 40 155 SYNGAP1 8831 broad.mit.edu 37 6 33391253 33391253 + Splice_Site SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:33391253G>C uc011dri.1 + 2 263 c.68_splice c.e2-1 p.D23_splice SYNGAP1_uc003oeo.1_Splice_Site_p.D8_splice|SYNGAP1_uc010juy.2_Splice_Site_p.D8_splice NM_006772 NP_006763 Q96PV0 SYGP1_HUMAN synaptic Ras GTPase activating protein 1 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity|SH3 domain binding ovary(4) 4 CTGTCCTCCAGATGTACGGGG 0.522 NaN 0 0 0 0.01441 0 63 185 C6orf142 90523 broad.mit.edu 37 6 54025594 54025594 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:54025594C>G uc003pcg.3 + 7 1004 c.891C>G c.(889-891)GTC>GTG p.V297V C6orf142_uc003pcf.2_Silent_p.V821V|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Silent_p.V832V NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN hypothetical protein LOC90523 297 nuclear envelope|PML body protein binding 0 Lung NSC(77;0.0317) CTGACACAGTCAAAGTATGTA 0.179 NaN 0 0 0 0.004482 0 7 85 COL19A1 1310 broad.mit.edu 37 6 70639365 70639365 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:70639365C>G uc003pfc.1 + 6 556 c.439C>G c.(439-441)CAA>GAA p.Q147E COL19A1_uc010kam.1_Missense_Mutation_p.Q43E NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 147 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 ATTTATGTTTCAAGCCACAGA 0.338 NaN 0 0 0 0.001984 0 4 66 MYO6 4646 broad.mit.edu 37 6 76576333 76576333 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:76576333G>A uc003pih.1 + 17 2044 c.1765G>A c.(1765-1767)GAA>AAA p.E589K MYO6_uc003pig.1_Missense_Mutation_p.E589K|MYO6_uc003pii.1_Missense_Mutation_p.E589K NM_004999 NP_004990 Q9UM54 MYO6_HUMAN myosin VI 589 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding kidney(1)|pancreas(1) 2 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AGTGTGCTATGAAACAGTGAG 0.299 NaN 0 0 0 0.00308 0 8 62 GPR63 81491 broad.mit.edu 37 6 97247160 97247160 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:97247160C>T uc010kcl.2 - 3 926 c.448G>A c.(448-450)GGG>AGG p.G150R GPR63_uc003pou.2_Missense_Mutation_p.G150R NM_001143957 NP_001137429 Q9BZJ6 GPR63_HUMAN G protein-coupled receptor 63 150 Extracellular (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721) BRCA - Breast invasive adenocarcinoma(108;0.0912) AAGAATTTCCCAAAAATCCAT 0.418 NaN 0 0 0 0.014323 0 22 56 FOXO3 2309 broad.mit.edu 37 6 108985341 108985341 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:108985341C>T uc003psk.2 + 3 1621 c.1305C>T c.(1303-1305)TTC>TTT p.F435F FOXO3_uc003psn.2_Intron|FOXO3_uc003psm.2_Silent_p.F435F|FOXO3_uc011ean.1_Silent_p.F215F|FOXO3_uc010kdj.1_Silent_p.F215F NM_201559 NP_963853 O43524 FOXO3_HUMAN forkhead box O3A 435 antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding p.F435F(1) central_nervous_system(4)|lung(2) 6 all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152) Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718) GCACGGTGTTCGGACCTTCAT 0.572 NaN 0 0 0 0.000602 0 4 114 C6orf204 387119 broad.mit.edu 37 6 118791768 118791768 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:118791768G>C uc003pxz.1 - 11 2542 c.1954C>G c.(1954-1956)CAA>GAA p.Q652E NM_001042475 NP_001035940 Q5SZL2 CF204_HUMAN chromosome 6 open reading frame 204 isoform a 652 Potential. centrosome breast(1) 1 all_cancers(87;0.0814)|all_epithelial(87;0.115) GBM - Glioblastoma multiforme(226;0.0114)|all cancers(137;0.035)|OV - Ovarian serous cystadenocarcinoma(136;0.0618) ATCATCTTTTGAGTGGTCAGT 0.308 NaN 0 0 0 0.001984 0 5 118 VNN2 8875 broad.mit.edu 37 6 133070857 133070857 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:133070857G>A uc003qdt.2 - 6 1359 c.1348C>T c.(1348-1350)CAT>TAT p.H450Y VNN2_uc003qds.2_Missense_Mutation_p.H159Y|VNN2_uc010kgb.2_Missense_Mutation_p.H229Y|VNN2_uc003qdv.2_Missense_Mutation_p.H397Y NM_004665 NP_004656 O95498 VNN2_HUMAN vanin 2 isoform 1 precursor 450 cellular component movement|pantothenate metabolic process anchored to membrane|plasma membrane pantetheine hydrolase activity 0 OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267) GGTGACAGATGAATTTCGGTA 0.378 NaN 0 0 0 0.009096 0 4 60 BCLAF1 9774 broad.mit.edu 37 6 136589449 136589449 + Missense_Mutation SNP G G C rs147719127 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:136589449G>C uc003qgx.1 - 10 2501 c.2248C>G c.(2248-2250)CGA>GGA p.R750G BCLAF1_uc011edb.1_Missense_Mutation_p.R78G|BCLAF1_uc003qgw.1_Missense_Mutation_p.R577G|BCLAF1_uc003qgy.1_Missense_Mutation_p.R748G|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.R748G NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 750 Poly-Ser. induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) GATGAAGATCGAGAATGATCT 0.338 NaN 0 0 0 0.000602 0 5 111 BCLAF1 9774 broad.mit.edu 37 6 136599168 136599168 + Missense_Mutation SNP T T C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:136599168T>C uc003qgx.1 - 4 1104 c.851A>G c.(850-852)TAC>TGC p.Y284C BCLAF1_uc003qgw.1_Missense_Mutation_p.Y284C|BCLAF1_uc003qgy.1_Missense_Mutation_p.Y282C|BCLAF1_uc011edc.1_RNA|BCLAF1_uc011edd.1_RNA|BCLAF1_uc011ede.1_Missense_Mutation_p.Y282C NM_014739 NP_055554 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 isoform 284 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding ovary(1) 1 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AGAAGGACTGTATCGACTAGA 0.453 NaN 0 0 0 0.004482 0 9 86 VTA1 51534 broad.mit.edu 37 6 142487389 142487389 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:142487389G>C uc003qiw.2 + 2 152 c.137G>C c.(136-138)GGA>GCA p.G46A VTA1_uc011edt.1_RNA|VTA1_uc011edu.1_Intron NM_016485 NP_057569 Q9NP79 VTA1_HUMAN Vps20-associated 1 homolog 46 Interaction with CHMP5.|Interaction with IST1. cellular membrane organization|endosome transport|protein transport cytosol|endosome membrane protein binding 0 Breast(32;0.155) OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182) ATGCAGACTGGAATGAAGATC 0.289 NaN 0 0 0 0.004672 0 3 100 LATS1 9113 broad.mit.edu 37 6 150005065 150005065 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:150005065G>A uc003qmu.1 - 4 1708 c.1160C>T c.(1159-1161)TCT>TTT p.S387F LATS1_uc010kif.1_Missense_Mutation_p.S282F|LATS1_uc003qmv.1_Missense_Mutation_p.S387F|LATS1_uc003qmw.2_Missense_Mutation_p.S387F|LATS1_uc010kig.1_Missense_Mutation_p.S282F NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 387 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) TTGTAAAGCAGAAGGGCTTTG 0.453 NaN 0 0 0 0.007413 0 19 129 LATS1 9113 broad.mit.edu 37 6 150005361 150005361 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr6:150005361G>C uc003qmu.1 - 4 1412 c.864C>G c.(862-864)ATC>ATG p.I288M LATS1_uc010kif.1_Missense_Mutation_p.I183M|LATS1_uc003qmv.1_Missense_Mutation_p.I288M|LATS1_uc003qmw.2_Missense_Mutation_p.I288M|LATS1_uc010kig.1_Missense_Mutation_p.I183M NM_004690 NP_004681 O95835 LATS1_HUMAN LATS homolog 1 288 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity lung(5)|central_nervous_system(1) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) GGACAGGAGAGATTCGGGAGA 0.517 NaN 0 0 0 0.004007 0 17 159 DNAH11 8701 broad.mit.edu 37 7 21775305 21775305 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:21775305G>A uc003svc.2 + 47 7540 c.7509G>A c.(7507-7509)ATG>ATA p.M2503I NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2503 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GATATTTCATGGAGTTGTTGC 0.343 NaN Kartagener_syndrome 0 0 0 0.000602 0 5 36 STK31 56164 broad.mit.edu 37 7 23810677 23810677 + Silent SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:23810677G>T uc003sws.3 + 14 1834 c.1767G>T c.(1765-1767)CTG>CTT p.L589L STK31_uc003swt.3_Silent_p.L566L|STK31_uc011jze.1_Silent_p.L589L|STK31_uc010kuq.2_Silent_p.L566L NM_031414 NP_113602 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 isoform a 589 ATP binding|nucleic acid binding|protein serine/threonine kinase activity skin(3)|lung(2)|ovary(2)|stomach(2) 9 GTCAAGTACTGCAAAAGATTC 0.338 NaN 1 0 2.3441e-25 0.01441 2.55874e-25 62 140 HOXA1 3198 broad.mit.edu 37 7 27135406 27135406 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:27135406G>A uc003sye.2 - 1 220 c.126C>T c.(124-126)GTC>GTT p.V42V HOXA1_uc003syd.2_Silent_p.V42V|uc003syg.2_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN homeobox A1 isoform a 42 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3) 3 TGTTGGCGCTGACCGCGCACG 0.522 NaN OREG0003750 type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.010729 0 10 104 ZNF735 730291 broad.mit.edu 37 7 63667599 63667599 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:63667599C>T uc011kdn.1 + 1 19 c.19C>T c.(19-21)CCC>TCC p.P7S NM_001159524 NP_001152996 P0CB33 ZN735_HUMAN zinc finger protein 735 7 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AAGACCGGGACCCCCTGGAAG 0.562 NaN 0 0 0 0.001984 0 4 50 PPP1R9A 55607 broad.mit.edu 37 7 94915637 94915637 + Missense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:94915637G>T uc003unp.2 + 13 3159 c.2877G>T c.(2875-2877)GAG>GAT p.E959D PPP1R9A_uc010lfj.2_Missense_Mutation_p.E1243D|PPP1R9A_uc011kif.1_Missense_Mutation_p.E1165D|PPP1R9A_uc003unq.2_Missense_Mutation_p.E1183D|PPP1R9A_uc011kig.1_Missense_Mutation_p.E959D|PPP1R9A_uc003unr.2_Missense_Mutation_p.E256D NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 959 Interacts with TGN38 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CATCAGATGAGGTAATTCCAT 0.458 NaN HNSCC(28;0.073) 1 0 0.00024832 0.009096 0.000258595 4 85 SRRT 51593 broad.mit.edu 37 7 100482607 100482607 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:100482607G>A uc003uwy.2 + 10 1373 c.1105G>A c.(1105-1107)GAG>AAG p.E369K SRRT_uc010lhl.1_Missense_Mutation_p.E369K|SRRT_uc003uxa.2_Missense_Mutation_p.E369K|SRRT_uc003uwz.2_Missense_Mutation_p.E369K NM_015908 NP_056992 Q9BXP5 SRRT_HUMAN arsenate resistance protein 2 isoform a 369 Glu-rich. cell proliferation|primary miRNA processing|response to arsenic-containing substance cytoplasm|nucleoplasm protein binding ovary(2) 2 CAGCGTGTCAGAGTCTGAGTC 0.577 NaN 0 0 0 0.001168 0 6 274 TRIM56 81844 broad.mit.edu 37 7 100731650 100731650 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:100731650G>C uc003uxq.2 + 3 1288 c.1057G>C c.(1057-1059)GAG>CAG p.E353Q TRIM56_uc003uxr.2_Intron NM_030961 NP_112223 Q9BRZ2 TRI56_HUMAN tripartite motif-containing 56 353 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding kidney(1)|central_nervous_system(1)|skin(1) 3 Lung NSC(181;0.136)|all_lung(186;0.182) CCCACAGCTGGAGCTCCATCC 0.662 NaN 0 0 0 0.009096 0 4 8 SND1 27044 broad.mit.edu 37 7 127341354 127341354 + Nonsense_Mutation SNP C C G rs34667910 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:127341354C>G uc003vmi.2 + 5 792 c.566C>G c.(565-567)TCA>TGA p.S189* NM_014390 NP_055205 Q7KZF4 SND1_HUMAN staphylococcal nuclease domain containing 1 189 gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity ovary(2)|central_nervous_system(1) 3 TTTGTGGACTCACACCACCAG 0.483 NaN 0 0 0 0.001168 0 6 73 TSGA14 95681 broad.mit.edu 37 7 130067815 130067815 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:130067815G>C uc003vpz.2 - 2 125 c.78C>G c.(76-78)ATC>ATG p.I26M TSGA14_uc010lmf.2_Translation_Start_Site|TSGA14_uc003vqa.2_Missense_Mutation_p.I26M|TSGA14_uc011kpg.1_Missense_Mutation_p.I26M|TSGA14_uc003vqb.1_RNA NM_018718 NP_061188 Q9BYV8 CEP41_HUMAN testis specific, 14 26 G2/M transition of mitotic cell cycle centrosome|cytosol 0 Melanoma(18;0.0435) GTCTTGATTTGATATGCTGGT 0.313 NaN 0 0 0 0.012213 0 28 56 TRPV5 56302 broad.mit.edu 37 7 142605898 142605898 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:142605898C>T uc003wby.1 - 15 2236 c.1972G>A c.(1972-1974)GAT>AAT p.D658N NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 658 Cytoplasmic (Potential). protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) TCCTGGTCATCCTCCTTGTCT 0.532 NaN 0 0 0 0.001168 0 6 66 TAS2R60 338398 broad.mit.edu 37 7 143141483 143141483 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:143141483C>T uc011ktg.1 + 1 938 c.938C>T c.(937-939)TCA>TTA p.S313L uc003wda.2_Intron NM_177437 NP_803186 P59551 T2R60_HUMAN taste receptor, type 2, member 60 313 Cytoplasmic (Potential). sensory perception of bitter taste integral to membrane G-protein coupled receptor activity skin(6) 6 Melanoma(164;0.172) CGTCGTTCCTCAAGGTGTGGG 0.502 NaN 0 0 0 0.010729 0 10 118 OR6B1 135946 broad.mit.edu 37 7 143701967 143701967 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:143701967G>A uc003wdt.1 + 1 878 c.878G>A c.(877-879)CGA>CAA p.R293Q NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) CTAAGAAACCGAGAGGTCAAG 0.433 NaN 0 0 0 0.010729 0 12 73 CNTNAP2 26047 broad.mit.edu 37 7 146536942 146536942 + Silent SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:146536942C>G uc003weu.1 + 3 864 c.348C>G c.(346-348)CTC>CTG p.L116L NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 116 F5/8 type C.|Extracellular (Potential). behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ACCGGATGCTCTACAGCGACA 0.468 NaN HNSCC(39;0.1) 0 0 0 0.000602 0 5 38 SSPO 23145 broad.mit.edu 37 7 149522395 149522395 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:149522395C>T uc010lpk.2 + 101 14022 c.14022C>T c.(14020-14022)TTC>TTT p.F4674F SSPO_uc010lpm.1_RNA|SSPO_uc003wgg.2_RNA|SSPO_uc003wgh.2_RNA|SSPO_uc003wgi.1_RNA NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 4674 TIL 6. cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) ACACTGTATTCACCCTGGACT 0.637 NaN 0 0 0 0.008871 0 21 68 GIMAP5 55340 broad.mit.edu 37 7 150439547 150439547 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:150439547C>G uc003whr.1 + 3 672 c.320C>G c.(319-321)TCT>TGT p.S107C GIMAP5_uc010lpu.2_5'UTR NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 107 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TACCTGCTCTCTGCCCCGGGG 0.582 NaN 0 0 0 0.008291 0 11 88 GIMAP5 55340 broad.mit.edu 37 7 150439620 150439620 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:150439620C>G uc003whr.1 + 3 745 c.393C>G c.(391-393)ATC>ATG p.I131M GIMAP5_uc010lpu.2_Translation_Start_Site NM_018384 NP_060854 Q96F15 GIMA5_HUMAN GTPase, IMAP family member 5 131 Cytoplasmic (Potential). integral to membrane|mitochondrial outer membrane GTP binding ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CAGTGGCCATCAGGAAGGTGA 0.592 NaN 0 0 0 0.004482 0 9 120 AGAP3 116988 broad.mit.edu 37 7 150840866 150840866 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr7:150840866C>G uc003wjg.1 + 18 2575 c.2572C>G c.(2572-2574)CCA>GCA p.P858A AGAP3_uc003wje.1_Missense_Mutation_p.P527A|AGAP3_uc003wjj.1_Missense_Mutation_p.P357A|AGAP3_uc003wjk.1_Missense_Mutation_p.P276A NM_031946 NP_114152 Q96P47 AGAP3_HUMAN centaurin, gamma 3 isoform a 822 ANK 3. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|ovary(1) 3 GGGCCTGACTCCACTGGCATA 0.617 NaN 0 0 0 0.001168 0 6 86 C8orf42 157695 broad.mit.edu 37 8 442608 442608 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:442608C>T uc003wpd.2 - 3 923 c.349G>A c.(349-351)GAA>AAA p.E117K C8orf42_uc011kwg.1_Missense_Mutation_p.E117K NM_175075 NP_778250 Q86YL5 CH042_HUMAN hypothetical protein LOC157695 117 0 Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255) GATATGTCTTCAAGAGCAAGT 0.493 NaN 0 0 0 0.001984 0 7 63 C8orf42 157695 broad.mit.edu 37 8 442629 442629 + Nonsense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:442629C>A uc003wpd.2 - 3 902 c.328G>T c.(328-330)GAG>TAG p.E110* C8orf42_uc011kwg.1_Nonsense_Mutation_p.E110* NM_175075 NP_778250 Q86YL5 CH042_HUMAN hypothetical protein LOC157695 110 0 Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255) TTTGGAGGCTCCCAACCTTCA 0.468 NaN 1 0 1.12685e-05 0.004482 1.18712e-05 9 73 SGK223 157285 broad.mit.edu 37 8 8175847 8175847 + Silent SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:8175847C>A uc003wsh.3 - 5 4038 c.4038G>T c.(4036-4038)ACG>ACT p.T1346T NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN pragmin 1346 ATP binding|non-membrane spanning protein tyrosine kinase activity 0 AGTTGTGCAGCGTGCCGCACA 0.677 NaN 1 0 1.23904e-05 0.000602 1.30229e-05 5 97 ESCO2 157570 broad.mit.edu 37 8 27645505 27645505 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:27645505G>C uc003xgg.2 + 6 1200 c.1117G>C c.(1117-1119)GAC>CAC p.D373H ESCO2_uc010luy.1_RNA NM_001017420 NP_001017420 Q56NI9 ESCO2_HUMAN establishment of cohesion 1 homolog 2 373 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding central_nervous_system(1) 1 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) AAAAACAAAAGACCAGCTCAT 0.289 NaN SC_Phocomelia_syndrome 0 0 0 0.013537 0 13 107 PURG 29942 broad.mit.edu 37 8 30889612 30889612 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:30889612C>T uc003xin.2 - 1 706 c.687G>A c.(685-687)ATG>ATA p.M229I WRN_uc003xio.3_5'Flank|PURG_uc003xim.1_Missense_Mutation_p.M229I NM_013357 NP_037489 Q9UJV8 PURG_HUMAN purine-rich element binding protein G isoform A 229 By similarity. nucleus DNA binding 0 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GAAACTCAATCATTCCTTGTG 0.488 NaN 0 0 0 0.003163 0 15 135 OPRK1 4986 broad.mit.edu 37 8 54147422 54147422 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:54147422G>A uc003xrh.1 - 2 882 c.507C>T c.(505-507)TTC>TTT p.F169F OPRK1_uc003xri.1_Silent_p.F169F|OPRK1_uc010lyc.1_Silent_p.F80F NM_000912 NP_000903 P41145 OPRK_HUMAN opioid receptor, kappa 1 169 Cytoplasmic (Potential). behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding ovary(1)|skin(1) 2 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) AGGGTGTGCGGAAGTCCAAAG 0.512 NaN 0 0 0 0.000602 0 5 89 HNF4G 3174 broad.mit.edu 37 8 76471126 76471126 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:76471126A>G uc003yaq.2 + 9 1106 c.836A>G c.(835-837)TAT>TGT p.Y279C HNF4G_uc003yar.2_Missense_Mutation_p.Y316C NM_004133 NP_004124 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 279 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding ovary(1) 1 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) GATCGGCAGTATGACTCCCGG 0.453 NaN 0 0 0 0.003271 0 35 89 PKHD1L1 93035 broad.mit.edu 37 8 110535087 110535087 + Nonsense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:110535087C>T uc003yne.2 + 75 12402 c.12298C>T c.(12298-12300)CAG>TAG p.Q4100* NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN fibrocystin L precursor 4100 Extracellular (Potential). immune response cytosol|extracellular space|integral to membrane receptor activity p.Q4100Q(1) ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GCCATTTCCTCAGCAGCCTTC 0.458 NaN HNSCC(38;0.096) 0 0 0 0.001984 0 6 13 CSMD3 114788 broad.mit.edu 37 8 114448989 114448989 + Missense_Mutation SNP A A T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:114448989A>T uc003ynu.2 - 1 254 c.95T>A c.(94-96)TTC>TAC p.F32Y CSMD3_uc011lhx.1_Missense_Mutation_p.F32Y|CSMD3_uc010mcx.1_Missense_Mutation_p.F32Y|CSMD3_uc003ynx.3_Missense_Mutation_p.F32Y NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 32 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATCAGGATGAAGTCTAGGCG 0.468 NaN HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 0 0 0 0.001168 0 5 178 WDR67 93594 broad.mit.edu 37 8 124095030 124095030 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:124095030G>C uc003ypp.1 + 3 403 c.313G>C c.(313-315)GAT>CAT p.D105H WDR67_uc011lig.1_Missense_Mutation_p.D105H|WDR67_uc011lih.1_Intron|WDR67_uc003ypq.1_Intron|WDR67_uc003ypo.1_Missense_Mutation_p.D105H NM_145647 NP_663622 Q96DN5 WDR67_HUMAN WD repeat domain 67 isoform 1 105 centrosome Rab GTPase activator activity skin(1) 1 Lung NSC(37;7e-10)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) GGCATTAGCTGATTATTCTAT 0.348 NaN 0 0 0 0.009096 0 4 99 C8orf76 84933 broad.mit.edu 37 8 124250182 124250182 + Splice_Site SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:124250182C>G uc003yqc.1 - 3 245 c.214_splice c.e3-1 p.K72_splice C8orf76_uc003yqd.2_Splice_Site_p.K40_splice NM_032847 NP_116236 Q96K31 CH076_HUMAN hypothetical protein LOC84933 binding ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) GCAGTGCTTTCTGGAAATTAT 0.378 NaN 0 0 0 0.004482 0 7 96 LRRC6 23639 broad.mit.edu 37 8 133623581 133623581 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:133623581C>T uc003ytk.2 - 9 1077 c.1003G>A c.(1003-1005)GAT>AAT p.D335N LRRC6_uc003ytl.2_RNA NM_012472 NP_036604 Q86X45 LRRC6_HUMAN leucine rich repeat containing 6 335 CS. cytoplasm ovary(1)|kidney(1) 2 Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) GGTTGCACATCAACATCGATT 0.308 NaN 0 0 0 0.000602 0 4 60 KHDRBS3 10656 broad.mit.edu 37 8 136594141 136594141 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:136594141C>T uc003yuv.2 + 6 1026 c.632C>T c.(631-633)GCC>GTC p.A211V KHDRBS3_uc003yuw.2_Missense_Mutation_p.A211V|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 211 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus SH3 domain binding ovary(2) 2 all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.247) GGAGTTACAGCCCGGCCAGTT 0.502 NaN 0 0 0 0.010504 0 18 95 MGC70857 414919 broad.mit.edu 37 8 145753430 145753430 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr8:145753430C>G uc003zdp.1 - 2 341 c.183G>C c.(181-183)AAG>AAC p.K61N LRRC24_uc003zdm.2_5'Flank|LRRC24_uc003zdn.2_5'Flank|MGC70857_uc003zdq.1_5'UTR|MGC70857_uc003zdr.1_RNA NM_001001795 NP_001001795 Q6P1X6 CH082_HUMAN hypothetical protein LOC414919 61 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGATGAAATTCTTCATTTTGG 0.582 NaN 0 0 0 0.00245 0 12 61 IL33 90865 broad.mit.edu 37 9 6252898 6252898 + Missense_Mutation SNP C C A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:6252898C>A uc003zjt.2 + 5 433 c.376C>A c.(376-378)CTA>ATA p.L126I IL33_uc011lmg.1_Intron|IL33_uc011lmh.1_Intron|IL33_uc003zju.1_Missense_Mutation_p.L126I NM_033439 NP_254274 O95760 IL33_HUMAN interleukin 33 precursor 126 positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity 0 Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167) GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105) TCTTGCTTCTCTAAGCACATA 0.318 NaN 1 0 1.36161e-19 0.004289 1.48272e-19 38 86 MPDZ 8777 broad.mit.edu 37 9 13113048 13113048 + Missense_Mutation SNP A A G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:13113048A>G uc010mhy.2 - 40 5527 c.5476T>C c.(5476-5478)TCT>CCT p.S1826P MPDZ_uc003zkx.3_Missense_Mutation_p.S91P|MPDZ_uc003zky.3_Missense_Mutation_p.S389P|MPDZ_uc010mib.2_Missense_Mutation_p.S560P|MPDZ_uc010mhx.2_Missense_Mutation_p.S677P|MPDZ_uc011lmm.1_Missense_Mutation_p.S714P|MPDZ_uc003zkz.3_Missense_Mutation_p.S548P|MPDZ_uc010mhz.2_Missense_Mutation_p.S1822P|MPDZ_uc011lmn.1_Missense_Mutation_p.S1793P|MPDZ_uc003zlb.3_Missense_Mutation_p.S1826P NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1855 interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) TGTATTTCAGATGCCACTGTA 0.323 NaN 0 0 0 0.004672 0 2 11 OGN 4969 broad.mit.edu 37 9 95155527 95155527 + Splice_Site SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:95155527C>T uc004asa.2 - 4 504 c.269_splice c.e4-1 p.E90_splice CENPP_uc004arz.2_Intron|CENPP_uc010mqx.2_Intron|OGN_uc004asb.2_Splice_Site_p.E90_splice|OGN_uc011ltx.1_Splice_Site_p.E108_splice NM_014057 NP_054776 P20774 MIME_HUMAN osteoglycin preproprotein extracellular space|proteinaceous extracellular matrix growth factor activity 0 GTGGGCATTTCTAAATTGGGA 0.333 NaN 0 0 0 0.001984 0 6 43 PHF2 5253 broad.mit.edu 37 9 96415473 96415473 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:96415473C>T uc004aub.2 + 6 762 c.615C>T c.(613-615)TTC>TTT p.F205F PHF2_uc011lug.1_Silent_p.F88F NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 205 JmjC. liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) TGTCCAGCTTCGTGGAGCCAC 0.502 NaN 0 0 0 0.001168 0 6 29 ZNF510 22869 broad.mit.edu 37 9 99522220 99522220 + Missense_Mutation SNP C C G TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:99522220C>G uc004awn.1 - 6 1081 c.892G>C c.(892-894)GAC>CAC p.D298H ZNF510_uc004awo.1_Missense_Mutation_p.D298H NM_014930 NP_055745 Q9Y2H8 ZN510_HUMAN zinc finger protein 510 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Acute lymphoblastic leukemia(62;0.0527) CTCCTGTGGTCAAAGAGAGTT 0.358 NaN 0 0 0 0.00308 0 8 112 UGCG 7357 broad.mit.edu 37 9 114691868 114691868 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:114691868G>A uc004bft.2 + 6 937 c.647G>A c.(646-648)AGA>AAA p.R216K NM_003358 NP_003349 Q16739 CEGT_HUMAN ceramide glucosyltransferase 216 Lumenal (Potential). epidermis development|glucosylceramide biosynthetic process Golgi membrane|integral to membrane|membrane fraction ceramide glucosyltransferase activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(323;0.0433) Miglustat(DB00419) TGTTTAATGAGAAAAGATGTG 0.393 NaN 0 0 0 0.01441 0 65 79 GPR21 2844 broad.mit.edu 37 9 125797112 125797112 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:125797112C>T uc011lzk.1 + 1 267 c.267C>T c.(265-267)CTC>CTT p.L89L RABGAP1_uc004bnl.3_Intron|RABGAP1_uc011lzh.1_Intron|RABGAP1_uc011lzj.1_Intron|GPR21_uc011lzi.1_RNA NM_005294 NP_005285 Q99679 GPR21_HUMAN G protein-coupled receptor 21 89 Helical; Name=2; (Potential). integral to plasma membrane G-protein coupled receptor activity ovary(1) 1 CTTTATCACTCCTCCATCACC 0.463 NaN 0 0 0 0.003271 0 36 44 TSC1 7248 broad.mit.edu 37 9 135786887 135786887 + Nonsense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:135786887G>A uc004cca.2 - 10 1216 c.982C>T c.(982-984)CAG>TAG p.Q328* TSC1_uc004ccb.3_Nonsense_Mutation_p.Q328*|TSC1_uc011mcq.1_Nonsense_Mutation_p.Q277*|TSC1_uc011mcr.1_Intron|TSC1_uc011mcs.1_Nonsense_Mutation_p.Q207*|TSC1_uc004ccc.1_Nonsense_Mutation_p.Q328*|TSC1_uc004ccd.2_Nonsense_Mutation_p.Q328*|TSC1_uc004cce.1_Nonsense_Mutation_p.Q328* NM_000368 NP_000359 Q92574 TSC1_HUMAN tuberous sclerosis 1 protein isoform 1 328 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) lung(4)|central_nervous_system(3)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|skin(1)|ovary(1)|bone(1) 14 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) CTCAGAGTCTGAGGTAGCTGC 0.502 NaN D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis 0 0 0 0.004289 0 36 72 COL5A1 1289 broad.mit.edu 37 9 137676852 137676852 + Silent SNP C C T rs144775947 TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:137676852C>T uc004cfe.2 + 30 2884 c.2502C>T c.(2500-2502)CCC>CCT p.P834P NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 834 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCGGCCCACCCGGTCCCAGGG 0.617 NaN 0 0 0 0.000602 0 3 45 OBP2A 29991 broad.mit.edu 37 9 138439763 138439763 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:138439763C>T uc004cgb.2 + 4 366 c.324C>T c.(322-324)GAC>GAT p.D108D OBP2A_uc004cgc.2_Silent_p.D108D|OBP2A_uc010nau.2_RNA|OBP2A_uc010nav.2_Nonsense_Mutation_p.R64* NM_014582 NP_055397 Q9NY56 OBP2A_HUMAN odorant binding protein 2A precursor 108 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity 0 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) CCGGGACGGACGACTACGTCT 0.612 NaN 0 0 0 0.004672 0 3 21 PMPCA 23203 broad.mit.edu 37 9 139313052 139313052 + Missense_Mutation SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr9:139313052G>A uc004chl.2 + 9 1041 c.1036G>A c.(1036-1038)GGA>AGA p.G346R PMPCA_uc010nbl.2_Missense_Mutation_p.G246R|PMPCA_uc011mdz.1_Missense_Mutation_p.G215R|PMPCA_uc004chm.1_Missense_Mutation_p.G96R|PMPCA_uc004chn.1_5'Flank NM_015160 NP_055975 Q10713 MPPA_HUMAN peptidase (mitochondrial processing) alpha 346 proteolysis mitochondrial inner membrane|mitochondrial matrix metalloendopeptidase activity|zinc ion binding 0 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05) GATGATGGGCGGAGGTGGCTC 0.602 NaN 0 0 0 0.000602 0 3 45 SYTL5 94122 broad.mit.edu 37 X 37955435 37955435 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:37955435C>T uc004ddu.2 + 10 1544 c.1010C>T c.(1009-1011)TCA>TTA p.S337L SYTL5_uc004ddv.2_Missense_Mutation_p.S337L|SYTL5_uc004ddx.2_Missense_Mutation_p.S337L NM_001163335 NP_001156807 Q8TDW5 SYTL5_HUMAN synaptotagmin-like 5 isoform 1 337 intracellular protein transport membrane metal ion binding|Rab GTPase binding skin(1) 1 ACAGAAGACTCAGAGGATACT 0.418 NaN 0 0 0 0.010729 0 11 57 TFE3 7030 broad.mit.edu 37 X 48895743 48895743 + Silent SNP G G A TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:48895743G>A uc004dmb.3 - 4 997 c.759C>T c.(757-759)ATC>ATT p.I253I TFE3_uc004dmc.3_Silent_p.I148I|TFE3_uc004dme.1_RNA NM_006521 NP_006512 P19532 TFE3_HUMAN transcription factor E3 253 humoral immune response|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding ASPSCR1/TFE3(161)|PRCC/TFE3(25)|SFPQ/TFE3(6)|NONO/TFE3(2)|CLTC/TFE3(2) soft_tissue(120)|kidney(76)|central_nervous_system(1) 197 AGCTGGACCCGATGGTGAGCA 0.602 NaN T SFPQ|ASPSCR1|PRCC|NONO|CLTC papillary renal|alveolar soft part sarcoma|renal 0 0 0 0.004672 0 3 24 CACNA1F 778 broad.mit.edu 37 X 49070628 49070628 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:49070628G>C uc004dnb.2 - 30 3794 c.3732C>G c.(3730-3732)TTC>TTG p.F1244L CACNA1F_uc010nip.2_Missense_Mutation_p.F1233L NM_005183 NP_005174 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, 1244 IV.|Helical; Name=S2 of repeat IV; (Potential). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(3)|ovary(1)|kidney(1)|skin(1) 6 Verapamil(DB00661) CCTTGGGCTTGAAGGCGATGA 0.547 NaN 0 0 0 0.001168 0 6 55 DOCK11 139818 broad.mit.edu 37 X 117788597 117788597 + Missense_Mutation SNP G G C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:117788597G>C uc004eqp.2 + 43 4791 c.4728G>C c.(4726-4728)TTG>TTC p.L1576F DOCK11_uc004eqq.2_Missense_Mutation_p.L1355F NM_144658 NP_653259 Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1576 DHR-2. blood coagulation cytosol GTP binding ovary(3) 3 TCAAAGACTTGACCAAGAGAA 0.423 NaN 0 0 0 0.004656 0 25 50 ELF4 2000 broad.mit.edu 37 X 129206253 129206253 + Silent SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:129206253C>T uc004evd.3 - 5 865 c.480G>A c.(478-480)GAG>GAA p.E160E ELF4_uc004eve.3_Silent_p.E160E NM_001421 NP_001412 Q99607 ELF4_HUMAN E74-like factor 4 160 RUNX1-binding. natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter PML body protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1) 1 TGGAGGCCTTCTCCTCCAGAG 0.567 NaN T ERG AML 0 0 0 0.013537 0 10 88 ARHGAP36 158763 broad.mit.edu 37 X 130220601 130220601 + Missense_Mutation SNP G G T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:130220601G>T uc004evz.2 + 11 1793 c.1448G>T c.(1447-1449)CGG>CTG p.R483L ARHGAP36_uc004ewa.2_Missense_Mutation_p.R471L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.R452L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.R347L NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 483 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 GCTGAAGCCCGGGCTGCTGTC 0.512 NaN 1 0 1.76056e-25 0.011902 1.92641e-25 40 26 ZNF75D 7626 broad.mit.edu 37 X 134421722 134421722 + Missense_Mutation SNP C C T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chrX:134421722C>T uc004eyp.2 - 7 3535 c.880G>A c.(880-882)GAA>AAA p.E294K ZNF75D_uc004eym.2_Intron|ZNF75D_uc004eyn.2_Missense_Mutation_p.E73K|ZNF75D_uc004eyo.2_Missense_Mutation_p.E199K NM_007131 NP_009062 P51815 ZN75D_HUMAN zinc finger protein 75 294 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 GTTTGTATTTCTGATGTAGAA 0.373 NaN 0 0 0 0.003163 0 14 105 GRN 2896 broad.mit.edu 37 17 42427695 42427696 + Frame_Shift_Ins INS - - CC TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr17:42427695_42427696insCC uc002igp.1 + 5 668_669 c.449_450insCC c.(448-450)TGCfs p.C150fs GRN_uc002igq.1_3'UTR|GRN_uc002igr.1_5'Flank NM_002087 NP_002078 P28799 GRN_HUMAN granulin precursor 150 signal transduction extracellular space cytokine activity|growth factor activity ovary(2)|central_nervous_system(2)|skin(1) 5 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGGGGGTGCTGCCCCATGCCCC 0.619 NaN NaN NaN NaN NaN NaN 12 225 --- --- MADCAM1 8174 broad.mit.edu 37 19 504758 504758 + Frame_Shift_Del DEL G G - TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr19:504758delG uc002los.2 + 5 952 c.942delG c.(940-942)GCGfs p.A314fs MADCAM1_uc002lot.2_Frame_Shift_Del_p.A227fs|MADCAM1_uc010drq.2_Frame_Shift_Del_p.A132fs|C19orf20_uc002lou.2_5'Flank NM_130760 NP_570116 Q13477 MADCA_HUMAN mucosal vascular addressin cell adhesion 314 Extracellular (Potential).|Mucin-like. cell adhesion|immune response|regulation of immune response|signal transduction integral to membrane|membrane fraction|plasma membrane 0 all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAAACCTGCGGGTGACCAGC 0.672 NaN NaN NaN NaN NaN NaN 15 113 --- --- PCK1 5105 broad.mit.edu 37 20 56136548 56136549 + Frame_Shift_Ins INS - - C TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr20:56136548_56136549insC uc002xyn.3 + 2 244_245 c.81_82insC c.(79-84)GTGAGGfs p.V27fs PCK1_uc010zzm.1_5'UTR NM_002591 NP_002582 P35558 PCKGC_HUMAN cytosolic phosphoenolpyruvate carboxykinase 1 27_28 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity skin(1) 1 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCCAGGCAGTGAGGGAGTTTCT 0.569 NaN NaN NaN NaN NaN NaN 15 215 --- --- CRYZL1 9946 broad.mit.edu 37 21 34994348 34994349 + Frame_Shift_Ins INS - - T TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr21:34994348_34994349insT uc011adw.1 - 4 350_351 c.170_171insA c.(169-171)AAGfs p.K57fs DONSON_uc002ysn.1_Intron|CRYZL1_uc002ysr.1_Frame_Shift_Ins_p.K81fs|CRYZL1_uc002yss.1_RNA|CRYZL1_uc002yst.1_RNA|CRYZL1_uc002ysu.2_Frame_Shift_Ins_p.K57fs NM_145858 NP_665857 O95825 QORL1_HUMAN crystallin, zeta-like 1 57 quinone cofactor metabolic process cytosol NADP binding|NADPH:quinone reductase activity|zinc ion binding 0 GAAATAAATCCTTTTTCATCTT 0.327 NaN NaN NaN NaN NaN NaN 31 230 --- --- NAGA 4668 broad.mit.edu 37 22 42463826 42463827 + In_Frame_Ins INS - - CAACTGGCATCGCGA TCGA-CF-A1HR-01A-11D-A13W-08 TCGA-CF-A1HR-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 69acf4f1-063f-453d-b148-681518c0bc39 62d52ca4-cd68-4a07-87fb-57e5f2c09538 g.chr22:42463826_42463827insCAACTGGCATCGCGA uc003bbx.2 - 4 403_404 c.266_267insTCGCGATGCCAGTTG c.(265-267)GGC>GGTCGCGATGCCAGTTGC p.89_90insRDASC NAGA_uc003bby.2_In_Frame_Ins_p.89_90insRDASC|NAGA_uc003bbw.3_In_Frame_Ins_p.89_90insRDASC NM_000262 NP_000253 P17050 NAGAB_HUMAN alpha-N-acetylgalactosaminidase precursor 89_90 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1) 1 GCATCAGGCGGCCACTGGCATC 0.614 NaN NaN NaN NaN NaN NaN 8 185 --- ---