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 H6PD 9563 broad.mit.edu 37 1 9324830 9324830 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:9324830C>T uc001apt.2 + 5 2551 c.2278C>T c.(2278-2280)CGG>TGG p.R760W NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 760 6-phosphogluconolactonase. endoplasmic reticulum lumen 6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding 0 all_lung(157;0.23) all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419) NADH(DB00157) GCTGGTGAGCCGGGTGGGCCA 0.637 NaN 0 0 0 0.010729 0 12 30 ATP13A2 23400 broad.mit.edu 37 1 17313397 17313397 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:17313397C>G uc001baa.2 - 27 3328 c.3138G>C c.(3136-3138)GAG>GAC p.E1046D ATP13A2_uc001azz.1_Missense_Mutation_p.E193D|ATP13A2_uc001bab.2_Missense_Mutation_p.E1041D|ATP13A2_uc001bac.2_Missense_Mutation_p.E1002D NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 1046 Extracellular (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CCACGGTGTTCTCGTAGTTGG 0.627 NaN 0 0 0 0.00308 0 7 27 HSPG2 3339 broad.mit.edu 37 1 22176612 22176612 + Silent SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:22176612C>G uc001bfj.2 - 57 7408 c.7368G>C c.(7366-7368)CTG>CTC p.L2456L HSPG2_uc009vqd.2_Silent_p.L2457L NM_005529 NP_005520 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 precursor 2456 Ig-like C2-type 10. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1) 9 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CGAGGCAGTTCAGGTCCAGGG 0.662 NaN 0 0 0 0.00623 0 38 86 KDM1A 23028 broad.mit.edu 37 1 23382467 23382467 + Nonsense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:23382467C>G uc001bgi.2 + 6 1015 c.866C>G c.(865-867)TCA>TGA p.S289* KDM1A_uc001bgj.2_Nonsense_Mutation_p.S309* NM_015013 NP_055828 O60341 KDM1A_HUMAN lysine-specific histone demethylase 1 isoform b 289 FAD (Potential). FAD. blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nuclear chromatin androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding ovary(1)|lung(1) 2 TCTGGGGTCTCAGGCTTGGCA 0.358 NaN 0 0 0 0.01441 0 44 169 MYOM3 127294 broad.mit.edu 37 1 24392393 24392393 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:24392393G>A uc001bin.3 - 29 3685 c.3522C>T c.(3520-3522)CTC>CTT p.L1174L MYOM3_uc001bil.3_Silent_p.L67L|MYOM3_uc001bim.3_Silent_p.L831L|MYOM3_uc001bio.2_Silent_p.L1174L NM_152372 NP_689585 Q5VTT5 MYOM3_HUMAN myomesin family, member 3 1174 Ig-like C2-type 3. skin(2)|ovary(1) 3 Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153) CTTCAATGCAGAGAAGTCCCG 0.562 NaN 0 0 0 0.01441 0 55 138 ARID1A 8289 broad.mit.edu 37 1 27058057 27058057 + Nonsense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 C T C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:27058057C>T uc001bmv.1 + 3 2138 c.1765C>T c.(1765-1767)CAA>TAA p.Q589* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q589*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q589*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q206* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 589 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) GCAGTCCCAGCAAACTGCCTA 0.607 NaN Mis|N|F|S|D clear cell ovarian carcinoma|RCC 0 0 0 0.01441 0 81 91 MACF1 23499 broad.mit.edu 37 1 39888185 39888185 + Missense_Mutation SNP G G A rs148666575 byFrequency TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:39888185G>A uc010oiu.1 + 23 11407 c.11276G>A c.(11275-11277)CGA>CAA p.R3759Q MACF1_uc010ois.1_Missense_Mutation_p.R3257Q|MACF1_uc001cda.1_Missense_Mutation_p.R3144Q|MACF1_uc001cdc.1_Missense_Mutation_p.R2323Q NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5324 Spectrin 6. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) ATCAATGCTCGATGGAATACA 0.428 NaN 0 0 0 0.014323 0 21 50 MACF1 23499 broad.mit.edu 37 1 39889764 39889764 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:39889764G>C uc010oiu.1 + 25 11665 c.11534G>C c.(11533-11535)AGA>ACA p.R3845T MACF1_uc010ois.1_Missense_Mutation_p.R3343T|MACF1_uc001cda.1_Missense_Mutation_p.R3230T|MACF1_uc001cdc.1_Missense_Mutation_p.R2409T NM_033044 NP_149033 Q9UPN3 MACF1_HUMAN microfilament and actin filament cross-linker 5410 Spectrin 7. cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding ovary(8)|breast(3)|central_nervous_system(3)|skin(2) 16 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGGAGGCAGAATAGCCCAG 0.473 NaN 0 0 0 0.004007 0 15 63 CLDN19 149461 broad.mit.edu 37 1 43205572 43205572 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:43205572C>T uc001cht.1 - 1 354 c.163G>A c.(163-165)GCC>ACC p.A55T CLDN19_uc001chu.2_Missense_Mutation_p.A55T|CLDN19_uc010ojv.1_Missense_Mutation_p.A55T NM_148960 NP_683763 Q8N6F1 CLD19_HUMAN claudin 19 isoform a 55 Extracellular (Potential). calcium-independent cell-cell adhesion|response to stimulus|visual perception basolateral plasma membrane|integral to membrane|tight junction identical protein binding 0 Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) CTCTGGGAGGCGCAGGACATC 0.647 NaN 0 0 0 0.009096 0 4 16 ATP6V0B 533 broad.mit.edu 37 1 44441505 44441505 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:44441505G>T uc001cld.2 + 2 212 c.101G>T c.(100-102)CGC>CTC p.R34L ATP6V0B_uc001clc.2_Missense_Mutation_p.R34L|ATP6V0B_uc001cle.2_Intron|ATP6V0B_uc001clf.2_5'UTR NM_004047 NP_004038 Q99437 VATO_HUMAN ATPase, H+ transporting, lysosomal 21kDa, V0 34 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane hydrogen ion transmembrane transporter activity breast(1) 1 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0511) TTGGGCTTCCGCTTTGATGTG 0.537 NaN 1 0 1.68136e-41 0.01441 1.90984e-41 77 203 NRD1 4898 broad.mit.edu 37 1 52305975 52305975 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:52305975C>T uc001ctc.3 - 2 875 c.553G>A c.(553-555)GAT>AAT p.D185N NRD1_uc009vzb.2_5'UTR|NRD1_uc001ctd.3_Missense_Mutation_p.D185N|NRD1_uc001cte.2_Missense_Mutation_p.D53N|NRD1_uc001ctf.2_Missense_Mutation_p.D185N|NRD1_uc010ong.1_RNA|NRD1_uc009vzc.1_Missense_Mutation_p.D53N|NRD1_uc001ctg.1_5'Flank NM_002525 NP_002516 O43847 NRDC_HUMAN nardilysin isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding 0 gtatcaagatcatcatcatgt 0.169 NaN 0 0 0 0.006122 0 18 42 LEPR 3953 broad.mit.edu 37 1 66064359 66064359 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:66064359C>T uc001dci.2 + 8 1068 c.866C>T c.(865-867)TCA>TTA p.S289L LEPR_uc001dcg.2_Missense_Mutation_p.S289L|LEPR_uc001dch.2_Missense_Mutation_p.S289L|LEPR_uc009waq.2_Intron|LEPR_uc001dcj.2_Missense_Mutation_p.S289L|LEPR_uc001dck.2_Missense_Mutation_p.S289L NM_002303 NP_002294 P48357 LEPR_HUMAN leptin receptor isoform 1 289 Extracellular (Potential).|Fibronectin type-III 1. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity skin(1) 1 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) AAGATTGTCTCAGCTACATCC 0.333 NaN 0 0 0 0.010504 0 16 89 LRRC8D 55144 broad.mit.edu 37 1 90400469 90400469 + Silent SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:90400469A>G uc001dnm.2 + 3 2267 c.1842A>G c.(1840-1842)ACA>ACG p.T614T LRRC8D_uc001dnn.2_Silent_p.T614T NM_001134479 NP_001127951 Q7L1W4 LRC8D_HUMAN leucine rich repeat containing 8 family, member 614 LRR 5. integral to membrane protein binding ovary(2) 2 all_lung(203;0.0894)|Lung NSC(277;0.227) all cancers(265;0.0109)|Epithelial(280;0.0427) CACATCTTACAAAGTTAGTCA 0.438 NaN 0 0 0 0.01441 0 44 99 DNTTIP2 30836 broad.mit.edu 37 1 94343392 94343392 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:94343392C>T uc001dqf.2 - 2 137 c.99G>A c.(97-99)GCG>GCA p.A33A DNTTIP2_uc010otm.1_RNA|DNTTIP2_uc009wdo.1_Intron NM_014597 NP_055412 Q5QJE6 TDIF2_HUMAN deoxynucleotidyltransferase, terminal, 33 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 all_lung(203;0.0111)|Lung NSC(277;0.0347) all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128) TTTCTGGATGCGCTTGAATCC 0.443 NaN 0 0 0 0.017118 0 35 27 VTCN1 79679 broad.mit.edu 37 1 117699368 117699368 + Silent SNP C C A rs115383914 byFrequency TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:117699368C>A uc001ehb.2 - 3 345 c.273G>T c.(271-273)TCG>TCT p.S91S VTCN1_uc001ehc.2_5'UTR|VTCN1_uc009whf.1_Intron NM_024626 NP_078902 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation 91 Ig-like V-type 1.|Extracellular (Potential). integral to membrane|plasma membrane 0 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) CATCCTGCTCCGACAGCTCAT 0.458 NaN 1 0 3.99451e-17 0.009535 4.29772e-17 32 94 PDE4DIP 9659 broad.mit.edu 37 1 144871840 144871840 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:144871840G>C uc001elw.3 - 32 5413 c.5122C>G c.(5122-5124)CAG>GAG p.Q1708E NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Intron|PDE4DIP_uc001elv.3_Missense_Mutation_p.Q715E NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1708 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) AATGGTGCCTGAGGAAGGCTA 0.507 NaN T PDGFRB MPD 0 0 0 0.001984 0 7 168 PDE4DIP 9659 broad.mit.edu 37 1 144918839 144918839 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:144918839C>T uc001elw.3 - 10 1638 c.1347G>A c.(1345-1347)TTG>TTA p.L449L NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Silent_p.L515L|PDE4DIP_uc001emc.1_Silent_p.L449L|PDE4DIP_uc001emd.1_Silent_p.L449L|PDE4DIP_uc001emb.1_Silent_p.L612L|PDE4DIP_uc001eme.1_5'UTR|PDE4DIP_uc001emf.1_Silent_p.L236L NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 449 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TCACCTGAAGCAACTGCTCCT 0.403 NaN T PDGFRB MPD 0 0 0 0.01441 0 181 732 HORMAD1 84072 broad.mit.edu 37 1 150675844 150675844 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:150675844G>T uc001evk.1 - 13 1080 c.974C>A c.(973-975)TCT>TAT p.S325Y HORMAD1_uc001evl.1_Missense_Mutation_p.S318Y|HORMAD1_uc001evm.1_Missense_Mutation_p.S245Y NM_032132 NP_115508 Q86X24 HORM1_HUMAN HORMA domain containing 1 325 blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus ovary(2)|central_nervous_system(1) 3 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) ATCAAGTTCAGATGTTTTATT 0.274 NaN 1 0 3.09899e-07 0.004482 3.19705e-07 7 45 PIP5K1A 8394 broad.mit.edu 37 1 151205031 151205031 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:151205031C>T uc001exj.2 + 7 943 c.491C>T c.(490-492)TCC>TTC p.S164F PIP5K1A_uc001exi.2_Missense_Mutation_p.S151F|PIP5K1A_uc010pcu.1_Missense_Mutation_p.S152F|PIP5K1A_uc001exk.2_Missense_Mutation_p.S151F|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 164 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) CCCCAGTATTCCCTCTGCAGT 0.423 NaN 0 0 0 0.016522 0 13 61 PIP5K1A 8394 broad.mit.edu 37 1 151205035 151205035 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:151205035C>T uc001exj.2 + 7 947 c.495C>T c.(493-495)CTC>CTT p.L165L PIP5K1A_uc001exi.2_Silent_p.L152L|PIP5K1A_uc010pcu.1_Silent_p.L153L|PIP5K1A_uc001exk.2_Silent_p.L152L|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 165 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) AGTATTCCCTCTGCAGTGAGC 0.428 NaN 0 0 0 0.016522 0 12 57 PIP5K1A 8394 broad.mit.edu 37 1 151205059 151205059 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:151205059C>T uc001exj.2 + 7 971 c.519C>T c.(517-519)CTC>CTT p.L173L PIP5K1A_uc001exi.2_Silent_p.L160L|PIP5K1A_uc010pcu.1_Silent_p.L161L|PIP5K1A_uc001exk.2_Silent_p.L160L|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 173 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TGATTGAACTCTGTAGCTCTG 0.458 NaN 0 0 0 0.012213 0 21 65 PIP5K1A 8394 broad.mit.edu 37 1 151205113 151205113 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:151205113C>G uc001exj.2 + 7 1025 c.573C>G c.(571-573)TTC>TTG p.F191L PIP5K1A_uc001exi.2_Missense_Mutation_p.F178L|PIP5K1A_uc010pcu.1_Missense_Mutation_p.F179L|PIP5K1A_uc001exk.2_Missense_Mutation_p.F178L|PIP5K1A_uc010pcv.1_5'Flank NM_001135638 NP_001129110 Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 191 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding ovary(1)|central_nervous_system(1)|skin(1) 3 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) ACGATGAGTTCATTATTAAGA 0.488 NaN 0 0 0 0.00623 0 37 70 FLG 2312 broad.mit.edu 37 1 152282887 152282887 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:152282887T>C uc001ezu.1 - 3 4511 c.4475A>G c.(4474-4476)CAC>CGC p.H1492R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1492 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) TGACCCCGGGTGTCCACGAAT 0.587 NaN Ichthyosis 0 0 0 0.01441 0 119 737 CD1C 911 broad.mit.edu 37 1 158263070 158263070 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:158263070G>T uc001fru.2 + 5 1250 c.958G>T c.(958-960)GTG>TTG p.V320L CD1C_uc001frv.2_Intron NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 320 Helical; (Potential). antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) AATAGTCCTTGTGTTATGGTT 0.393 NaN 1 0 1.69816e-31 0.01441 1.9024e-31 78 736 NCSTN 23385 broad.mit.edu 37 1 160326942 160326942 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:160326942G>C uc001fvx.2 + 16 2030 c.1906G>C c.(1906-1908)GAA>CAA p.E636Q NCSTN_uc001fvy.2_Missense_Mutation_p.E616Q|NCSTN_uc010pjf.1_Missense_Mutation_p.E498Q|NCSTN_uc001fvz.2_Missense_Mutation_p.E416Q|NCSTN_uc010pjg.1_Missense_Mutation_p.E378Q NM_015331 NP_056146 Q92542 NICA_HUMAN nicastrin precursor 636 Extracellular (Potential). amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding ovary(1)|lung(1) 2 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCCTGCCTTTGAACTGAGTCA 0.537 NaN 0 0 0 0.015359 0 32 375 RGS4 5999 broad.mit.edu 37 1 163044271 163044271 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:163044271C>G uc009wuy.2 + 5 1050 c.539C>G c.(538-540)CCG>CGG p.P180R RGS4_uc001gcl.3_Missense_Mutation_p.P277R|RGS4_uc009wuz.2_3'UTR|RGS4_uc009wva.2_Missense_Mutation_p.P162R NM_005613 NP_005604 P49798 RGS4_HUMAN regulator of G-protein signaling 4 isoform 2 180 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway plasma membrane calmodulin binding|GTPase activator activity|signal transducer activity ovary(2)|central_nervous_system(1) 3 TTGGTCAACCCGTCCAGCTGT 0.517 NaN 0 0 0 0.01441 0 56 436 DCAF6 55827 broad.mit.edu 37 1 168007717 168007717 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:168007717C>T uc001gew.2 + 11 1729 c.1487C>T c.(1486-1488)ACA>ATA p.T496I DCAF6_uc001gev.2_Missense_Mutation_p.T516I|DCAF6_uc001gex.2_Missense_Mutation_p.T573I|DCAF6_uc010plk.1_Missense_Mutation_p.T542I|DCAF6_uc001gey.2_Missense_Mutation_p.T369I NM_001017977 NP_001017977 Q58WW2 DCAF6_HUMAN IQ motif and WD repeats 1 isoform b 496 positive regulation of transcription from RNA polymerase II promoter CUL4 RING ubiquitin ligase complex|nucleus ligand-dependent nuclear receptor transcription coactivator activity ovary(1)|central_nervous_system(1)|skin(1) 3 CTGAACTTTACAGATGAATGG 0.333 NaN 0 0 0 0.010818 0 30 142 FAM20B 9917 broad.mit.edu 37 1 179019501 179019501 + Splice_Site SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:179019501G>A uc001gmc.2 + 3 757 c.464_splice c.e3+1 p.R155_splice NM_014864 NP_055679 O75063 XYLK_HUMAN hypothetical protein LOC9917 precursor Golgi membrane|integral to membrane ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor ovary(3) 3 ACTTGGACAGGTGCGTATGAT 0.443 NaN 0 0 0 0.01441 0 62 123 RGS18 64407 broad.mit.edu 37 1 192127775 192127775 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:192127775C>T uc001gsg.2 + 1 184 c.8C>T c.(7-9)ACA>ATA p.T3I NM_130782 NP_570138 Q9NS28 RGS18_HUMAN regulator of G-protein signalling 18 3 negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity ovary(3) 3 AAGATGGAAACAACATTGCTT 0.264 NaN 0 0 0 0.003163 0 16 45 KIF14 9928 broad.mit.edu 37 1 200587160 200587160 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:200587160C>G uc010ppk.1 - 2 1131 c.692G>C c.(691-693)AGA>ACA p.R231T KIF14_uc010ppj.1_5'UTR NM_014875 NP_055690 Q15058 KIF14_HUMAN kinesin family member 14 231 Required for PRC1-binding. microtubule-based movement cytoplasm|microtubule|nucleus|spindle ATP binding|microtubule motor activity|protein binding breast(3)|ovary(2)|skin(2) 7 GTGTCCTGATCTAACAACTTC 0.408 NaN 0 0 0 0.01441 0 379 65 CDC42BPA 8476 broad.mit.edu 37 1 227204728 227204728 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:227204728C>G uc001hqr.2 - 32 5477 c.4534G>C c.(4534-4536)GAA>CAA p.E1512Q CDC42BPA_uc001hqq.2_Missense_Mutation_p.E811Q|CDC42BPA_uc001hqs.2_Missense_Mutation_p.E1431Q|CDC42BPA_uc009xes.2_Missense_Mutation_p.E1484Q|CDC42BPA_uc010pvs.1_Missense_Mutation_p.E1492Q|CDC42BPA_uc001hqp.2_Missense_Mutation_p.E668Q|CDC42BPA_uc001hqt.2_Missense_Mutation_p.E390Q NM_003607 NP_003598 Q5VT25 MRCKA_HUMAN CDC42-binding protein kinase alpha isoform B 1525 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1) 11 all_cancers(173;0.156)|Prostate(94;0.0792) TCTGATGTTTCAGGTACTACC 0.363 NaN 0 0 0 0.01441 0 60 103 HEATR1 55127 broad.mit.edu 37 1 236729993 236729993 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:236729993C>T uc001hyd.1 - 30 4386 c.4261G>A c.(4261-4263)GAA>AAA p.E1421K HEATR1_uc009xgh.1_Missense_Mutation_p.E583K NM_018072 NP_060542 Q9H583 HEAT1_HUMAN protein BAP28 1421 rRNA processing nucleolus|ribonucleoprotein complex protein binding ovary(2)|skin(1) 3 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) ACATACTGTTCAAAAAGCAAG 0.488 NaN 0 0 0 0.009535 0 28 36 OR1C1 26188 broad.mit.edu 37 1 247921243 247921243 + Missense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:247921243C>A uc010pza.1 - 1 466 c.466G>T c.(466-468)GCC>TCC p.A156S NM_012353 NP_036485 Q15619 OR1C1_HUMAN olfactory receptor, family 1, subfamily C, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858) all_cancers(173;0.0247) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TGCAGGAGGGCGTGGAGGTAA 0.498 NaN 1 0 1.49673e-21 0.00623 1.64288e-21 41 7 MYO3A 53904 broad.mit.edu 37 10 26377316 26377316 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:26377316G>T uc001isn.2 + 15 1904 c.1544G>T c.(1543-1545)CGA>CTA p.R515L MYO3A_uc009xko.1_Missense_Mutation_p.R515L|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.R515L NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN myosin IIIA 515 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 18 GAAAAATCCCGAGTTATCCAC 0.348 NaN 1 0 8.83742e-36 0.01441 9.96885e-36 73 47 BMS1 9790 broad.mit.edu 37 10 43292463 43292463 + Missense_Mutation SNP G G A rs145513181 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:43292463G>A uc001jaj.2 + 10 2129 c.1771G>A c.(1771-1773)GAA>AAA p.E591K NM_014753 NP_055568 Q14692 BMS1_HUMAN BMS1-like, ribosome assembly protein 591 ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity ovary(2)|upper_aerodigestive_tract(1) 3 GTTTGCATCTGAAGATGAATC 0.448 NaN 0 0 0 0.021523 0 23 82 SLC18A3 6572 broad.mit.edu 37 10 50819136 50819136 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:50819136C>T uc001jhw.2 + 1 790 c.350C>T c.(349-351)ACG>ATG p.T117M CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank NM_003055 NP_003046 Q16572 VACHT_HUMAN vesicular acetylcholine transporter 117 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction acetylcholine transmembrane transporter activity ovary(2) 2 CGCTACCCTACGGAGAGCGAA 0.657 NaN 0 0 0 0.00632 0 25 47 ADAMTS14 140766 broad.mit.edu 37 10 72511899 72511899 + Missense_Mutation SNP T T G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:72511899T>G uc001jrh.2 + 18 2645 c.2645T>G c.(2644-2646)ATG>AGG p.M882R ADAMTS14_uc001jrg.2_Missense_Mutation_p.M885R NM_080722 NP_542453 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 882 TSP type-1 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|upper_aerodigestive_tract(1) 6 GACCACCACATGGTGCAGCGA 0.657 NaN 0 0 0 0.001984 0 6 15 CDH23 64072 broad.mit.edu 37 10 73494069 73494069 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:73494069G>A uc001jrx.3 + 32 4554 c.4177G>A c.(4177-4179)GAC>AAC p.D1393N C10orf105_uc001jsb.1_Intron|CDH23_uc001jsc.1_Missense_Mutation_p.D201N NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 1393 Cadherin 13.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGTGGCAGATGACGGCGGCCC 0.622 NaN 0 0 0 0.004672 0 3 8 TTC18 118491 broad.mit.edu 37 10 75051461 75051461 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:75051461C>G uc009xrc.2 - 19 2288 c.2167G>C c.(2167-2169)GAA>CAA p.E723Q TTC18_uc001jty.2_Missense_Mutation_p.E723Q|TTC18_uc001jtv.3_5'Flank|TTC18_uc001jtw.3_5'Flank|TTC18_uc001jtx.2_Missense_Mutation_p.E104Q NM_145170 NP_660153 Q5T0N1 TTC18_HUMAN tetratricopeptide repeat domain 18 723 TPR 3. binding ovary(2)|central_nervous_system(1) 3 Prostate(51;0.0119) AAGAAAATTTCTGCTTGCTCA 0.418 NaN 0 0 0 0.020292 0 15 25 ZMYND17 118490 broad.mit.edu 37 10 75184443 75184443 + Silent SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:75184443G>C uc001jud.2 - 7 1317 c.1251C>G c.(1249-1251)CTC>CTG p.L417L ZMYND17_uc001juc.2_3'UTR|ZMYND17_uc009xrh.2_Silent_p.L440L|ZMYND17_uc009xrg.2_Silent_p.L196L NM_001024593 NP_001019764 Q4VC12 ZMY17_HUMAN zinc finger, MYND domain containing 17 417 zinc ion binding ovary(1) 1 Prostate(51;0.0119) GTTCAGGTTTGAGGGACATGA 0.463 NaN 0 0 0 0.01441 0 51 72 SH3PXD2A 9644 broad.mit.edu 37 10 105361657 105361657 + Silent SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:105361657A>G uc001kxj.1 - 14 3374 c.3234T>C c.(3232-3234)AAT>AAC p.N1078N SH3PXD2A_uc010qqr.1_Intron|SH3PXD2A_uc010qqs.1_Silent_p.N913N|SH3PXD2A_uc010qqt.1_Silent_p.N955N|SH3PXD2A_uc009xxn.1_Silent_p.N913N|SH3PXD2A_uc010qqu.1_Silent_p.N1021N NM_014631 NP_055446 Q5TCZ1 SPD2A_HUMAN SH3 multiple domains 1 1106 SH3 5. cell communication|superoxide metabolic process cell junction|cell projection|cytoplasm|podosome phosphatidylinositol binding|protein binding 0 Colorectal(252;0.0815)|Breast(234;0.131) Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119) ACCACCAGCCATTAGGGTTCC 0.552 NaN 0 0 0 0.007291 0 22 50 INPP5F 22876 broad.mit.edu 37 10 121580377 121580377 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:121580377A>G uc001leo.2 + 16 2072 c.1906A>G c.(1906-1908)AGA>GGA p.R636G INPP5F_uc001lep.2_Missense_Mutation_p.R26G NM_014937 NP_055752 Q9Y2H2 SAC2_HUMAN inositol polyphosphate-5-phosphatase F 636 phosphoric ester hydrolase activity ovary(2) 2 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158) TGCTACTCACAGAGACGTGGA 0.363 NaN 0 0 0 0.01441 0 44 87 ACADSB 36 broad.mit.edu 37 10 124800022 124800022 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr10:124800022G>C uc001lhb.2 + 4 461 c.344G>C c.(343-345)GGA>GCA p.G115A ACADSB_uc010qub.1_Missense_Mutation_p.G13A NM_001609 NP_001600 P45954 ACDSB_HUMAN acyl-Coenzyme A dehydrogenase, short/branched 115 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) GGAGGCACAGGAGCTTCATTT 0.368 NaN 0 0 0 0.00874 0 41 59 C11orf16 56673 broad.mit.edu 37 11 8947287 8947287 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:8947287C>T uc001mhb.3 - 5 1051 c.927G>A c.(925-927)TTG>TTA p.L309L C11orf16_uc001mhc.3_Silent_p.L309L NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 309 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) CTGTGGGCTCCAACTCTGGAA 0.577 NaN 0 0 0 0.01892 0 25 53 SBF2 81846 broad.mit.edu 37 11 10022532 10022532 + Nonsense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:10022532C>A uc001mib.2 - 8 928 c.790G>T c.(790-792)GAA>TAA p.E264* SBF2_uc001mif.3_Nonsense_Mutation_p.E20* NM_030962 NP_112224 Q86WG5 MTMRD_HUMAN SET binding factor 2 264 DENN. myelination cytoplasm|membrane phosphatase activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887) CTTAGAACTTCCAGTAGCTGA 0.323 NaN 1 0 2.61681e-11 0.020292 2.77877e-11 13 29 AMPD3 272 broad.mit.edu 37 11 10483070 10483070 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:10483070C>T uc001mio.1 + 2 339 c.4C>T c.(4-6)CCG>TCG p.P2S AMPD3_uc010rbz.1_5'UTR|AMPD3_uc001min.1_Missense_Mutation_p.P11S|AMPD3_uc009yfw.1_RNA|AMPD3_uc009yfx.1_Missense_Mutation_p.P2S|AMPD3_uc009yfz.2_RNA|AMPD3_uc001mip.1_Missense_Mutation_p.P9S|AMPD3_uc009yfy.2_Missense_Mutation_p.P2S NM_001025389 NP_001020560 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 isoform 1B 2 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding large_intestine(1)|ovary(1) 2 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) AGCTGAGATGCCGCGGCAGTT 0.552 NaN 0 0 0 0.01441 0 83 120 USH1C 10083 broad.mit.edu 37 11 17538984 17538984 + Silent SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:17538984A>G uc001mnf.2 - 15 1357 c.1248T>C c.(1246-1248)GAT>GAC p.D416D USH1C_uc001mne.2_Intron|USH1C_uc009yhb.2_Silent_p.D397D|USH1C_uc001mng.2_Intron|USH1C_uc001mnd.2_Silent_p.D380D NM_005709 NP_005700 Q9Y6N9 USH1C_HUMAN harmonin isoform a 416 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding ovary(1) 1 CATCCAGGTCATCTGCGGGCT 0.627 NaN 0 0 0 0.004672 0 3 3 OR4C11 219429 broad.mit.edu 37 11 55371622 55371622 + Silent SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:55371622G>T uc010rii.1 - 1 228 c.228C>A c.(226-228)GCC>GCA p.A76A NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 76 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TTAATCTAGGGGCTGTGGAAG 0.398 NaN 1 0 1.05635e-38 0.01441 1.19573e-38 68 67 OR5R1 219479 broad.mit.edu 37 11 56185264 56185264 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:56185264A>G uc010rji.1 - 1 445 c.445T>C c.(445-447)TAT>CAT p.Y149H NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN olfactory receptor, family 5, subfamily R, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) CTGTATATATATGGAACTGCC 0.453 NaN 0 0 0 0.021022 0 39 81 OR6Q1 219952 broad.mit.edu 37 11 57799250 57799250 + Missense_Mutation SNP A A C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:57799250A>C uc010rjz.1 + 1 826 c.826A>C c.(826-828)AAG>CAG p.K276Q OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 276 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) CAACTTCAACAAGGTGGTATC 0.488 NaN 0 0 0 0.004656 0 25 161 OR9Q1 219956 broad.mit.edu 37 11 57947275 57947275 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:57947275A>G uc001nmj.2 + 3 675 c.359A>G c.(358-360)TAT>TGT p.Y120C NM_001005212 NP_001005212 Q8NGQ5 OR9Q1_HUMAN olfactory receptor, family 9, subfamily Q, 120 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Breast(21;0.222) CTCATGGCCTATGACCGCTAC 0.552 NaN 0 0 0 0.016522 0 20 55 FZD4 8322 broad.mit.edu 37 11 86663440 86663440 + Missense_Mutation SNP T T G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:86663440T>G uc001pce.2 - 2 664 c.358A>C c.(358-360)ATG>CTG p.M120L PRSS23_uc001pcc.1_RNA NM_012193 NP_036325 Q9ULV1 FZD4_HUMAN frizzled 4 precursor 120 FZ.|Extracellular (Potential). canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway cell projection|cell surface|cytoplasm cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding large_intestine(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAAAGACACATGCCGCCGCAT 0.478 NaN 0 0 0 0.01441 0 59 101 ENDOD1 23052 broad.mit.edu 37 11 94861970 94861970 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:94861970G>A uc001pfh.2 + 2 805 c.730G>A c.(730-732)GAC>AAC p.D244N NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 244 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) CCGGGACAGTGACATCATAGA 0.498 NaN 0 0 0 0.021523 0 23 30 TRPC6 7225 broad.mit.edu 37 11 101374954 101374954 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:101374954T>C uc001pgk.3 - 2 1171 c.746A>G c.(745-747)CAT>CGT p.H249R TRPC6_uc009ywy.2_Missense_Mutation_p.H249R|TRPC6_uc009ywz.1_Missense_Mutation_p.H249R NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN transient receptor potential cation channel, 249 Cytoplasmic (Potential). axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding skin(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) GAAATAATCATGAGGCCGTTC 0.473 NaN 0 0 0 0.003163 0 16 120 PVRL1 5818 broad.mit.edu 37 11 119535753 119535753 + Missense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:119535753C>A uc001pwv.2 - 6 1430 c.1258G>T c.(1258-1260)GAC>TAC p.D420Y PVRL1_uc001pwu.1_Intron NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 420 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) TCTGAGTCGTCGGGGTACTGC 0.547 NaN 1 0 1.5548e-18 0.005443 1.68394e-18 26 50 TP53AIP1 63970 broad.mit.edu 37 11 128807621 128807621 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:128807621G>A uc001qey.2 - 2 303 c.93C>T c.(91-93)CTC>CTT p.L31L TP53AIP1_uc001qex.2_Silent_p.L31L|TP53AIP1_uc009zcm.1_RNA Q9HCN2 TPIP1_HUMAN RecName: Full=p53-regulated apoptosis-inducing protein 1; Short=p53AIP1; 31 apoptosis mitochondrion lung(1) 1 GCATCACCGAGAGGTTCTGGT 0.622 NaN 0 0 0 0.008871 0 17 44 RIMKLB 57494 broad.mit.edu 37 12 8926198 8926198 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:8926198G>A uc001quu.2 + 6 1230 c.979G>A c.(979-981)GAG>AAG p.E327K RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.E327K|RIMKLB_uc010sgl.1_Missense_Mutation_p.E327K|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN ribosomal modification protein rimK-like family 327 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding 0 CACTGCCAGTGAGACTAGTGA 0.597 NaN 0 0 0 0.01441 0 45 35 TAS2R50 259296 broad.mit.edu 37 12 11138589 11138589 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:11138589G>C uc001qzl.2 - 1 923 c.871C>G c.(871-873)CTT>GTT p.L291V PRR4_uc009zhp.2_Intron|PRH1_uc001qzb.3_Intron|PRH1_uc001qzc.2_Intron|PRB4_uc001qzf.1_Intron|PRH1_uc001qzj.2_Intron NM_176890 NP_795371 P59544 T2R50_HUMAN taste receptor, type 2, member 50 291 Cytoplasmic (Potential). sensory perception of taste integral to membrane G-protein coupled receptor activity ovary(2) 2 AAAATCAAAAGAAAGGTGTGT 0.398 NaN 0 0 0 0.009718 0 42 126 H2AFJ 55766 broad.mit.edu 37 12 14927572 14927572 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:14927572G>A uc009zia.2 + 1 303 c.168G>A c.(166-168)TTG>TTA p.L56L H2AFJ_uc001rch.3_RNA NM_177925 NP_808760 Q9BTM1 H2AJ_HUMAN H2A histone family, member J 56 nucleosome assembly nucleosome|nucleus DNA binding ovary(1) 1 CGGCGGTGTTGGAGTACCTTA 0.667 NaN 0 0 0 0.00499 0 14 44 OVCH1 341350 broad.mit.edu 37 12 29630357 29630357 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:29630357G>T uc001rix.1 - 11 1163 c.1163C>A c.(1162-1164)GCC>GAC p.A388D NM_183378 NP_899234 Q7RTY7 OVCH1_HUMAN ovochymase 1 precursor 388 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity ovary(3)|central_nervous_system(3)|pancreas(3)|large_intestine(1) 10 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) TGGAACCATGGCCTCACTGGT 0.423 NaN 1 0 3.07184e-27 0.01441 3.40619e-27 66 51 IPO8 10526 broad.mit.edu 37 12 30829450 30829450 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:30829450G>A uc001rjd.2 - 6 881 c.711C>T c.(709-711)ATC>ATT p.I237I IPO8_uc010sjt.1_Silent_p.I32I NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 237 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding skin(2)|central_nervous_system(1) 3 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) CGGTCCTGTCGATAATAGTTC 0.428 NaN 0 0 0 0.012319 0 20 75 CPNE8 144402 broad.mit.edu 37 12 39079368 39079368 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:39079368C>T uc001rls.1 - 16 1279 c.1195G>A c.(1195-1197)GCT>ACT p.A399T CPNE8_uc001rlr.1_Missense_Mutation_p.A58T NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 399 VWFA. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) CTGTAATAAGCCTCCATGACC 0.398 NaN 0 0 0 0.006122 0 18 228 KIF21A 55605 broad.mit.edu 37 12 39730987 39730987 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:39730987T>C uc001rly.2 - 17 2475 c.2329A>G c.(2329-2331)ATG>GTG p.M777V KIF21A_uc001rlw.2_Missense_Mutation_p.M94V|KIF21A_uc001rlx.2_Missense_Mutation_p.M764V|KIF21A_uc001rlz.2_Missense_Mutation_p.M764V|KIF21A_uc010skl.1_Missense_Mutation_p.M764V NM_017641 NP_060111 Q7Z4S6 KI21A_HUMAN kinesin family member 21A 777 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(4)|pancreas(1)|lung(1)|skin(1) 7 Lung NSC(34;0.179)|all_lung(34;0.213) TCTTCTTTCATTTGTTTCATT 0.348 NaN 0 0 0 0.010771 0 44 93 PDZRN4 29951 broad.mit.edu 37 12 41967486 41967486 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:41967486G>A uc010skn.1 + 10 2376 c.2308G>A c.(2308-2310)GAG>AAG p.E770K PDZRN4_uc001rmq.3_Missense_Mutation_p.E711K|PDZRN4_uc009zjz.2_Missense_Mutation_p.E709K|PDZRN4_uc001rmr.2_Missense_Mutation_p.E596K NM_013377 NP_037509 Q6ZMN7 PZRN4_HUMAN PDZ domain containing RING finger 4 isoform 2 969 ubiquitin-protein ligase activity|zinc ion binding lung(3)|skin(3)|ovary(2)|large_intestine(1)|kidney(1)|pancreas(1) 11 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AAGCAGGTTAGAGTGTCTCAA 0.498 NaN 0 0 0 0.020292 0 14 25 RACGAP1 29127 broad.mit.edu 37 12 50384549 50384549 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:50384549G>A uc001rvt.2 - 18 2051 c.1741C>T c.(1741-1743)CCT>TCT p.P581S RACGAP1_uc009zlm.1_Missense_Mutation_p.P581S|RACGAP1_uc001rvs.2_Missense_Mutation_p.P581S|RACGAP1_uc001rvu.2_Missense_Mutation_p.P581S NM_013277 NP_037409 Q9H0H5 RGAP1_HUMAN Rac GTPase activating protein 1 581 blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding kidney(1) 1 TGATGTTCAGGAGTGGTCACA 0.438 NaN 0 0 0 0.008361 0 28 87 DIP2B 57609 broad.mit.edu 37 12 51090911 51090911 + Silent SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:51090911C>A uc001rwv.2 + 17 2157 c.2001C>A c.(1999-2001)ATC>ATA p.I667I DIP2B_uc009zlt.2_Silent_p.I97I NM_173602 NP_775873 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B 667 nucleus catalytic activity|transcription factor binding ovary(4)|breast(1)|pancreas(1) 6 CTGAGGCCATCTGTCCGTGCG 0.498 NaN 1 0 2.0095e-06 0.001984 2.06005e-06 7 29 ESPL1 9700 broad.mit.edu 37 12 53676162 53676162 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:53676162C>G uc001sck.2 + 14 2825 c.2734C>G c.(2734-2736)CTT>GTT p.L912V ESPL1_uc001scj.2_Missense_Mutation_p.L587V|ESPL1_uc010soe.1_Missense_Mutation_p.L123V NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 912 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding lung(1)|kidney(1)|skin(1) 3 GGCAGCTTACCTTAGCCTCCC 0.577 NaN 0 0 0 0.014323 0 22 64 TPH2 121278 broad.mit.edu 37 12 72388270 72388270 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:72388270G>A uc009zrw.1 + 8 1134 c.993G>A c.(991-993)AAG>AAA p.K331K TPH2_uc001swy.2_Silent_p.K241K NM_173353 NP_775489 Q8IWU9 TPH2_HUMAN tryptophan hydroxylase 2 331 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity ovary(2)|central_nervous_system(1)|skin(1) 4 L-Tryptophan(DB00150) CGGATCCTAAGTTTGCTCAGT 0.403 NaN 0 0 0 0.015359 0 31 132 PITPNM2 57605 broad.mit.edu 37 12 123471235 123471235 + Silent SNP C C T rs147680163 byFrequency TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:123471235C>T uc001uej.1 - 23 3694 c.3555G>A c.(3553-3555)CCG>CCA p.P1185P PITPNM2_uc001uek.1_Silent_p.P1179P NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, 1185 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGTGCCGCAGCGGGTCATGCA 0.687 NaN 0 0 0 0.009096 0 3 19 KATNAL1 84056 broad.mit.edu 37 13 30829724 30829724 + Nonsense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr13:30829724G>A uc001uss.2 - 4 453 c.352C>T c.(352-354)CGA>TGA p.R118* KATNAL1_uc001ust.2_Nonsense_Mutation_p.R118* NM_001014380 NP_001014402 Q9BW62 KATL1_HUMAN katanin p60 subunit A-like 1 118 cytoplasm|microtubule ATP binding|microtubule-severing ATPase activity 0 Lung SC(185;0.0257) all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213) CTTACTTCTCGATTGGGACGC 0.388 NaN 0 0 0 0.01441 0 176 78 BRCA2 675 broad.mit.edu 37 13 32929379 32929379 + Silent SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr13:32929379T>C uc001uub.1 + 14 7616 c.7389T>C c.(7387-7389)AAT>AAC p.N2463N NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2463 Interaction with FANCD2. 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) ACAACTCCAATCAAGCAGTAG 0.323 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 20 37 TDRD3 81550 broad.mit.edu 37 13 61057916 61057916 + Nonsense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr13:61057916C>G uc001via.2 + 6 1012 c.224C>G c.(223-225)TCA>TGA p.S75* TDRD3_uc010aef.2_Translation_Start_Site|TDRD3_uc001vhz.3_Nonsense_Mutation_p.S75*|TDRD3_uc010aeg.2_Nonsense_Mutation_p.S168*|TDRD3_uc001vib.3_Nonsense_Mutation_p.S75* NM_030794 NP_110421 Q9H7E2 TDRD3_HUMAN tudor domain containing 3 isoform 2 75 chromatin modification cytoplasm|nucleus chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity upper_aerodigestive_tract(1)|skin(1) 2 Prostate(109;0.173)|Breast(118;0.174) GBM - Glioblastoma multiforme(99;0.000291) CAGAGCTTATCAAAACACAAT 0.348 NaN 0 0 0 0.01441 0 46 128 FAM179B 23116 broad.mit.edu 37 14 45432544 45432544 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr14:45432544A>G uc001wvv.2 + 1 1129 c.920A>G c.(919-921)TAC>TGC p.Y307C FAM179B_uc001wvw.2_Missense_Mutation_p.Y307C|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Missense_Mutation_p.Y307C|FAM179B_uc001wvu.2_Missense_Mutation_p.Y307C NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 307 binding skin(2)|upper_aerodigestive_tract(1) 3 AGGAGACACTACAATCGCCGC 0.502 NaN 0 0 0 0.019004 0 33 64 PTGER2 5732 broad.mit.edu 37 14 52781858 52781858 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr14:52781858C>G uc001wzr.2 + 1 843 c.592C>G c.(592-594)CAG>GAG p.Q198E NM_000956 NP_000947 P43116 PE2R2_HUMAN prostaglandin E receptor 2 (subtype EP2), 53kDa 198 Extracellular (Potential). integral to plasma membrane prostaglandin E receptor activity lung(1)|breast(1) 2 Breast(41;0.0639)|all_epithelial(31;0.0729) Alprostadil(DB00770)|Iloprost(DB01088) CGCTTACCTGCAGCTGTACGC 0.627 NaN 0 0 0 0.014758 0 3 31 C14orf174 161394 broad.mit.edu 37 14 77845304 77845304 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr14:77845304G>C uc001xtq.1 + 1 1543 c.1543G>C c.(1543-1545)GAT>CAT p.D515H TMED8_uc010ast.1_5'Flank|TMED8_uc001xto.1_5'Flank NM_001010860 NP_001010860 Q9P1V8 SAM15_HUMAN hypothetical protein LOC161394 515 0 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0278) GGAAGTTGTAGATTTGTCCCA 0.413 NaN 0 0 0 0.005524 0 37 67 GPR68 8111 broad.mit.edu 37 14 91700947 91700947 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr14:91700947G>T uc001xzg.2 - 2 789 c.448C>A c.(448-450)CTG>ATG p.L150M GPR68_uc001xzh.2_Missense_Mutation_p.L160M NM_003485 NP_003476 Q15743 OGR1_HUMAN G protein-coupled receptor 68 150 Helical; Name=4; (Potential). inflammatory response integral to plasma membrane G-protein coupled receptor activity kidney(1) 1 all_cancers(154;0.0555) COAD - Colon adenocarcinoma(157;0.21) CTGGTCAGCAGCTCCTTGGCC 0.637 NaN 1 0 4.68919e-08 0.008291 4.85294e-08 11 15 ATG2B 55102 broad.mit.edu 37 14 96757944 96757944 + Nonsense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr14:96757944G>A uc001yfi.2 - 38 5937 c.5572C>T c.(5572-5574)CGA>TGA p.R1858* NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1858 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) TACCCATGTCGATAGGAAAGC 0.348 NaN 0 0 0 0.011902 0 41 180 MGA 23269 broad.mit.edu 37 15 41961492 41961492 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:41961492C>T uc001zog.1 + 2 491 c.400C>T c.(400-402)CGT>TGT p.R134C MGA_uc010ucy.1_Missense_Mutation_p.R134C|MGA_uc010ucz.1_Missense_Mutation_p.R134C NM_001080541 NP_001074010 Q8IWI9 MGAP_HUMAN MAX-interacting protein isoform 2 134 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) GGATAACCATCGTTATAAGTG 0.418 NaN 0 0 0 0.01441 0 130 245 FBN1 2200 broad.mit.edu 37 15 48776085 48776085 + Missense_Mutation SNP A A T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:48776085A>T uc001zwx.1 - 31 4096 c.3768T>A c.(3766-3768)AAT>AAA p.N1256K NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 1256 EGF-like 20; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CTCCAGGGATATTTGTGCACT 0.398 NaN 0 0 0 0.01441 0 57 66 KIAA1370 56204 broad.mit.edu 37 15 52901214 52901214 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:52901214T>C uc002acg.3 - 6 2050 c.1897A>G c.(1897-1899)ATG>GTG p.M633V KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.M545V|KIAA1370_uc010ugf.1_Missense_Mutation_p.M640V NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 633 0 all cancers(107;0.0803) CCATTGCTCATTTCTTGCTCC 0.303 NaN 0 0 0 0.01441 0 44 170 UNC13C 440279 broad.mit.edu 37 15 54306851 54306851 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:54306851G>T uc002ack.2 + 1 1751 c.1751G>T c.(1750-1752)CGG>CTG p.R584L NM_001080534 NP_001074003 Q8NB66 UN13C_HUMAN unc-13 homolog C 584 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding ovary(5)|pancreas(2) 7 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TCTTCGGACCGGGAGCTATGG 0.453 NaN 1 0 1.87028e-06 0.012319 1.92338e-06 21 48 RPLP1 6176 broad.mit.edu 37 15 69746006 69746006 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:69746006C>T uc002asd.1 + 2 222 c.93C>T c.(91-93)CTC>CTT p.L31L RPLP1_uc002ase.1_Intron NM_001003 NP_000994 P05386 RLA1_HUMAN ribosomal protein P1 isoform 1 31 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit protein binding|RNA binding|structural constituent of ribosome 0 TCAATGCCCTCATTAAAGCAG 0.418 NaN 0 0 0 0.01441 0 68 69 GRAMD2 196996 broad.mit.edu 37 15 72459414 72459414 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:72459414G>A uc002atq.2 - 6 416 c.392C>T c.(391-393)TCT>TTT p.S131F GRAMD2_uc010bis.2_Missense_Mutation_p.S131F NM_001012642 NP_001012660 Q8IUY3 GRAM2_HUMAN GRAM domain containing 2 131 GRAM. integral to membrane 0 CATTTGCACAGACACCACAGG 0.567 NaN 0 0 0 0.004482 0 9 45 SCAPER 49855 broad.mit.edu 37 15 76726455 76726455 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr15:76726455C>T uc002bby.2 - 25 3334 c.3275G>A c.(3274-3276)GGT>GAT p.G1092D SCAPER_uc010bkr.2_Missense_Mutation_p.G400D|SCAPER_uc002bbx.2_Missense_Mutation_p.G846D|SCAPER_uc002bbz.1_Missense_Mutation_p.G963D NM_020843 NP_065894 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 1091 endoplasmic reticulum|nucleus zinc ion binding large_intestine(1)|lung(1)|ovary(1) 3 AAAAGGATCACCTTGTGAGGG 0.373 NaN 0 0 0 0.00499 0 18 39 CREBBP 1387 broad.mit.edu 37 16 3786148 3786148 + Nonsense_Mutation SNP A A C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 A C A A Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr16:3786148A>C uc002cvv.2 - 28 4821 c.4617T>G c.(4615-4617)TAT>TAG p.Y1539* CREBBP_uc002cvw.2_Nonsense_Mutation_p.Y1501* NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 1539 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CACCTTCAAAATAGGGCAGTT 0.478 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.01441 0 80 63 CREBBP 1387 broad.mit.edu 37 16 3828045 3828045 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 C G C C Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr16:3828045C>G uc002cvv.2 - 10 2284 c.2080G>C c.(2080-2082)GTG>CTG p.V694L CREBBP_uc002cvw.2_Missense_Mutation_p.V656L NM_004380 NP_004371 Q92793 CBP_HUMAN CREB binding protein isoform a 694 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1) 127 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TGTGGAATCACAGGGGGCTGA 0.502 NaN T|N|F|Mis|O MLL|MORF|RUNXBP2 ALL|AML|DLBCL|B-NHL Rubinstein-Taybi syndrome Rubinstein-Taybi_syndrome 0 0 0 0.012213 0 31 148 CIITA 4261 broad.mit.edu 37 16 10971204 10971204 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr16:10971204C>T uc002dai.3 + 1 150 c.17C>T c.(16-18)CCA>CTA p.P6L CIITA_uc002daj.3_Missense_Mutation_p.P6L|CIITA_uc002dak.3_Missense_Mutation_p.P6L|CIITA_uc002dag.2_Missense_Mutation_p.P6L|CIITA_uc002dah.2_Missense_Mutation_p.P6L|CIITA_uc010bup.1_Missense_Mutation_p.P6L NM_000246 NP_000237 P33076 C2TA_HUMAN class II transactivator 6 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1) 1 TGCCTGGCTCCACGCCCTGCT 0.597 NaN T FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75 PMBL|Hodgkin Lymphona| 0 0 0 0.001984 0 7 6 MYST1 84148 broad.mit.edu 37 16 31141847 31141847 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr16:31141847C>T uc002eay.2 + 9 1095 c.1077C>T c.(1075-1077)CTC>CTT p.L359L MYST1_uc002eax.2_Silent_p.L359L|MYST1_uc002eaz.2_Silent_p.L201L|MYST1_uc002eba.2_Silent_p.L143L|MYST1_uc002ebb.2_RNA NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 359 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 TGGGCAAGCTCAGCTACCGCA 0.612 NaN 0 0 0 0.013537 0 8 15 CA7 766 broad.mit.edu 37 16 66881069 66881069 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr16:66881069C>T uc002eqi.2 + 2 286 c.177C>T c.(175-177)CTC>CTT p.L59L uc002eqh.2_Intron|CA7_uc002eqj.2_Silent_p.L3L NM_005182 NP_005173 P43166 CAH7_HUMAN carbonic anhydrase VII isoform 1 59 one-carbon metabolic process cytoplasm carbonate dehydratase activity|zinc ion binding 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204) GCATGTCCCTCAGCATCACCA 0.572 NaN 0 0 0 0.00499 0 17 20 PKD1L2 114780 broad.mit.edu 37 16 81161440 81161440 + Silent SNP G G A rs117399993 by1000genomes TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr16:81161440G>A uc002fgh.1 - 38 6276 c.6276C>T c.(6274-6276)ATC>ATT p.I2092I PKD1L2_uc002fgf.1_5'UTR|PKD1L2_uc002fgg.1_RNA NM_052892 NP_443124 Q7Z442 PK1L2_HUMAN polycystin 1-like 2 isoform a 2092 Extracellular (Potential). neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding ovary(1)|central_nervous_system(1)|pancreas(1) 3 GTTTGCCCCAGATGGGATACC 0.547 NaN 0 0 0 0.010729 0 11 38 ABR 29 broad.mit.edu 37 17 1003885 1003885 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:1003885G>A uc002fsd.2 - 3 447 c.337C>T c.(337-339)CTG>TTG p.L113L ABR_uc002fse.2_Silent_p.L67L|ABR_uc002fsg.2_Silent_p.L76L|ABR_uc010cjq.1_Silent_p.L125L NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 113 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) ACCAGCAACAGGGCTTCCAGC 0.572 NaN 0 0 0 0.00632 0 29 20 ABR 29 broad.mit.edu 37 17 1003907 1003907 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:1003907G>A uc002fsd.2 - 3 425 c.315C>T c.(313-315)ATC>ATT p.I105I ABR_uc002fse.2_Silent_p.I59I|ABR_uc002fsg.2_Silent_p.I68I|ABR_uc010cjq.1_Silent_p.I117I NM_021962 NP_068781 Q12979 ABR_HUMAN active breakpoint cluster region-related 105 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity upper_aerodigestive_tract(1) 1 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) GGTTAATGTAGATCTCTTCGC 0.582 NaN 0 0 0 0.010771 0 45 22 TP53 7157 broad.mit.edu 37 17 7578475 7578475 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 G A G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:7578475G>A uc002gim.2 - 5 649 c.455C>T c.(454-456)CCG>CTG p.P152L TP53_uc002gig.1_Missense_Mutation_p.P152L|TP53_uc002gih.2_Missense_Mutation_p.P152L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P20L|TP53_uc010cng.1_Missense_Mutation_p.P20L|TP53_uc002gii.1_Missense_Mutation_p.P20L|TP53_uc010cnh.1_Missense_Mutation_p.P152L|TP53_uc010cni.1_Missense_Mutation_p.P152L|TP53_uc002gij.2_Missense_Mutation_p.P152L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P59L|TP53_uc002gio.2_Missense_Mutation_p.P20L|TP53_uc010vug.1_Missense_Mutation_p.P113L NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 152 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P152L(57)|p.P152S(21)|p.P152fs*18(17)|p.P152T(7)|p.0?(7)|p.P152fs*29(5)|p.P152P(5)|p.P152Q(4)|p.P153fs*28(4)|p.P152fs*14(4)|p.P152fs*28(3)|p.P152R(3)|p.T150fs*16(3)|p.P152A(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.P152del(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P152_P153insXXX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGTGCCGGGCGGGGGTGTGGA 0.612 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 0 0 0 0.00623 0 35 5 MYH13 8735 broad.mit.edu 37 17 10206521 10206521 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:10206521C>T uc002gmk.1 - 39 5749 c.5659G>A c.(5659-5661)GAG>AAG p.E1887K NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN myosin, heavy polypeptide 13, skeletal muscle 1887 Potential. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|skin(2) 6 ACCGCCTCCTCAGCCTGCCTC 0.592 NaN 0 0 0 0.021022 0 38 42 SLC47A1 55244 broad.mit.edu 37 17 19480737 19480737 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:19480737G>A uc002gvy.1 + 17 1670 c.1584G>A c.(1582-1584)CCG>CCA p.P528P SLC47A1_uc002gvx.2_Silent_p.P528P|SLC47A1_uc010vyz.1_3'UTR|SLC47A1_uc010cqp.1_Silent_p.P226P|SLC47A1_uc010cqq.1_Silent_p.P274P|SLC47A1_uc010vza.1_Silent_p.P240P|SLC47A1_uc010vzb.1_Silent_p.P203P|SLC47A1_uc010vzc.1_Silent_p.P200P NM_018242 NP_060712 Q96FL8 S47A1_HUMAN solute carrier family 47, member 1 528 Cytoplasmic (Potential). integral to membrane|plasma membrane drug:hydrogen antiporter activity 0 all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345) AACCTTTGCCGGAACATCCAC 0.532 NaN 0 0 0 0.006999 0 38 157 CPD 1362 broad.mit.edu 37 17 28712233 28712233 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:28712233G>A uc002hfb.1 + 2 988 c.973G>A c.(973-975)GCA>ACA p.A325T CPD_uc010wbo.1_Missense_Mutation_p.A78T|CPD_uc010wbp.1_RNA NM_001304 NP_001295 O75976 CBPD_HUMAN carboxypeptidase D precursor 325 Extracellular (Potential).|Carboxypeptidase-like 1. proteolysis integral to membrane metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding liver(1)|skin(1) 2 CACAAACGGCGCACATTGGTA 0.413 NaN 0 0 0 0.01441 0 149 279 COPZ2 51226 broad.mit.edu 37 17 46111232 46111232 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:46111232C>G uc002imy.2 - 7 278 c.265G>C c.(265-267)GAG>CAG p.E89Q NM_016429 NP_057513 Q9P299 COPZ2_HUMAN coatomer protein complex, subunit zeta 2 89 intracellular protein transport|vesicle-mediated transport cis-Golgi network|COPI vesicle coat 0 CACTTACTCTCAGTCCGGCTG 0.483 NaN 0 0 0 0.001168 0 6 24 CACNA1G 8913 broad.mit.edu 37 17 48681582 48681582 + Silent SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:48681582C>A uc002irk.1 + 22 4608 c.4236C>A c.(4234-4236)ATC>ATA p.I1412I CACNA1G_uc002iri.1_Silent_p.I1412I|CACNA1G_uc002irj.1_Silent_p.I1389I|CACNA1G_uc002irl.1_Silent_p.I1389I|CACNA1G_uc002irm.1_Silent_p.I1389I|CACNA1G_uc002irn.1_Silent_p.I1389I|CACNA1G_uc002iro.1_Silent_p.I1389I|CACNA1G_uc002irp.1_Silent_p.I1412I|CACNA1G_uc002irq.1_Silent_p.I1389I|CACNA1G_uc002irr.1_Silent_p.I1412I|CACNA1G_uc002irs.1_Silent_p.I1412I|CACNA1G_uc002irt.1_Silent_p.I1412I|CACNA1G_uc002irv.1_Silent_p.I1412I|CACNA1G_uc002irw.1_Silent_p.I1389I|CACNA1G_uc002iru.1_Silent_p.I1389I|CACNA1G_uc002irx.1_Silent_p.I1325I|CACNA1G_uc002iry.1_Silent_p.I1325I|CACNA1G_uc002irz.1_Silent_p.I1325I|CACNA1G_uc002isa.1_Silent_p.I1325I|CACNA1G_uc002isb.1_Silent_p.I1325I|CACNA1G_uc002isc.1_Silent_p.I1325I|CACNA1G_uc002isd.1_Silent_p.I1325I|CACNA1G_uc002ise.1_Silent_p.I1325I|CACNA1G_uc002isf.1_Silent_p.I1325I|CACNA1G_uc002isg.1_Silent_p.I1325I|CACNA1G_uc002ish.1_Silent_p.I1325I|CACNA1G_uc002isi.1_Silent_p.I1302I|CACNA1G_uc002isj.2_Silent_p.I136I NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1412 Helical; Name=S5 of repeat III; (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) TGAAACCCATCGGCAACATTG 0.597 NaN 1 0 1.16021e-09 0.007291 1.21617e-09 31 110 CACNA1G 8913 broad.mit.edu 37 17 48681612 48681612 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:48681612C>T uc002irk.1 + 22 4638 c.4266C>T c.(4264-4266)TTC>TTT p.F1422F CACNA1G_uc002iri.1_Silent_p.F1422F|CACNA1G_uc002irj.1_Silent_p.F1399F|CACNA1G_uc002irl.1_Silent_p.F1399F|CACNA1G_uc002irm.1_Silent_p.F1399F|CACNA1G_uc002irn.1_Silent_p.F1399F|CACNA1G_uc002iro.1_Silent_p.F1399F|CACNA1G_uc002irp.1_Silent_p.F1422F|CACNA1G_uc002irq.1_Silent_p.F1399F|CACNA1G_uc002irr.1_Silent_p.F1422F|CACNA1G_uc002irs.1_Silent_p.F1422F|CACNA1G_uc002irt.1_Silent_p.F1422F|CACNA1G_uc002irv.1_Silent_p.F1422F|CACNA1G_uc002irw.1_Silent_p.F1399F|CACNA1G_uc002iru.1_Silent_p.F1399F|CACNA1G_uc002irx.1_Silent_p.F1335F|CACNA1G_uc002iry.1_Silent_p.F1335F|CACNA1G_uc002irz.1_Silent_p.F1335F|CACNA1G_uc002isa.1_Silent_p.F1335F|CACNA1G_uc002isb.1_Silent_p.F1335F|CACNA1G_uc002isc.1_Silent_p.F1335F|CACNA1G_uc002isd.1_Silent_p.F1335F|CACNA1G_uc002ise.1_Silent_p.F1335F|CACNA1G_uc002isf.1_Silent_p.F1335F|CACNA1G_uc002isg.1_Silent_p.F1335F|CACNA1G_uc002ish.1_Silent_p.F1335F|CACNA1G_uc002isi.1_Silent_p.F1312F|CACNA1G_uc002isj.2_Silent_p.F146F NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1422 Helical; Name=S5 of repeat III; (Potential).|III. axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) GCTGTGCCTTCTTCATCATTT 0.607 NaN 0 0 0 0.019004 0 32 129 ABCC3 8714 broad.mit.edu 37 17 48761367 48761367 + Missense_Mutation SNP C C A rs141762939 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:48761367C>A uc002isl.2 + 28 4092 c.4012C>A c.(4012-4014)CGC>AGC p.R1338S ABCC3_uc002isn.2_Missense_Mutation_p.R92S NM_003786 NP_003777 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C, member 3 1338 Cytoplasmic (By similarity).|ABC transporter 2. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity skin(3)|central_nervous_system(1) 4 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TTGCCTGTTCCGCATCCTGGA 0.622 NaN 1 0 9.84934e-19 0.010771 1.07029e-18 42 18 GNA13 10672 broad.mit.edu 37 17 63052540 63052540 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:63052540C>T uc002jfc.2 - 1 381 c.172G>A c.(172-174)GAG>AAG p.E58K GNA13_uc010wqh.1_5'Flank NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 58 GTP (By similarity). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction brush border membrane|heterotrimeric G-protein complex|melanosome D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding 0 TTGCCGCTCTCGCCCGCGCCC 0.617 NaN 0 0 0 0.013726 0 34 124 CCDC46 201134 broad.mit.edu 37 17 64171210 64171210 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr17:64171210G>C uc002jfl.2 - 4 641 c.422C>G c.(421-423)TCT>TGT p.S141C CCDC46_uc002jfm.2_Missense_Mutation_p.S141C|CCDC46_uc010dep.2_Missense_Mutation_p.S141C NM_145036 NP_659473 Q8N8E3 CE112_HUMAN coiled-coil domain containing 46 isoform a 141 centrosome 0 BRCA - Breast invasive adenocarcinoma(6;1.53e-06) TTCTCCAGAAGAGAGTTTCCA 0.423 NaN 0 0 0 0.012213 0 33 187 DSC1 1823 broad.mit.edu 37 18 28736055 28736055 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr18:28736055G>T uc002kwn.2 - 4 684 c.422C>A c.(421-423)GCT>GAT p.A141D DSC1_uc002kwm.2_Missense_Mutation_p.A141D NM_024421 NP_077739 Q08554 DSC1_HUMAN desmocollin 1 isoform Dsc1a preproprotein 141 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CATCAATGAAGCTGGAATAGG 0.403 NaN 1 0 3.5997e-14 0.014323 3.83497e-14 23 71 B4GALT6 9331 broad.mit.edu 37 18 29206280 29206280 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr18:29206280G>C uc002kwz.3 - 8 1264 c.967C>G c.(967-969)CAT>GAT p.H323D B4GALT6_uc010dma.2_Missense_Mutation_p.H284D|B4GALT6_uc010dmb.2_Missense_Mutation_p.H284D|B4GALT6_uc002kwy.3_RNA NM_004775 NP_004766 Q9UBX8 B4GT6_HUMAN beta-1,4-galactosyltransferase 6 323 Lumenal (Potential). Manganese (By similarity). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane metal ion binding 0 OV - Ovarian serous cystadenocarcinoma(10;0.00791) CTATGGTGATGAGGAATTGAC 0.358 NaN 0 0 0 0.011902 0 45 15 DYM 54808 broad.mit.edu 37 18 46904947 46904947 + Silent SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr18:46904947A>G uc002ldi.1 - 5 776 c.411T>C c.(409-411)CCT>CCC p.P137P DYM_uc010xdf.1_Intron NM_017653 NP_060123 Q7RTS9 DYM_HUMAN dymeclin 137 Golgi apparatus 0 TGTAATTGCCAGGAGATTTTT 0.289 NaN 0 0 0 0.014323 0 24 41 ZNF236 7776 broad.mit.edu 37 18 74606980 74606980 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr18:74606980G>A uc002lmi.2 + 10 1621 c.1423G>A c.(1423-1425)GAG>AAG p.E475K ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 475 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) CTCCATCCGCGAGGAGAACGG 0.657 NaN 0 0 0 0.011902 0 36 68 ZNF236 7776 broad.mit.edu 37 18 74617282 74617282 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr18:74617282C>G uc002lmi.2 + 13 2400 c.2202C>G c.(2200-2202)ATC>ATG p.I734M ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 734 C2H2-type 16. 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) ACATGGGTATCCACAACGACC 0.433 NaN 0 0 0 0.006122 0 19 22 S1PR4 8698 broad.mit.edu 37 19 3179545 3179545 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:3179545C>T uc002lxg.2 + 1 780 c.755C>T c.(754-756)ACG>ATG p.T252M NM_003775 NP_003766 O95977 S1PR4_HUMAN sphingosine-1-phosphate receptor 4 precursor 252 Cytoplasmic (By similarity). activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity lung(1)|skin(1) 2 CTGCTGAAGACGGTGCTGATG 0.687 NaN 0 0 0 0.008871 0 15 34 HDGFRP2 84717 broad.mit.edu 37 19 4475339 4475339 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:4475339C>T uc002mao.2 + 2 233 c.140C>T c.(139-141)ACA>ATA p.T47I HDGFRP2_uc002map.2_Missense_Mutation_p.T47I|HDGFRP2_uc010dtz.1_5'Flank NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN hepatoma-derived growth factor-related protein 2 47 PWWP. transcription, DNA-dependent nucleus DNA binding|protein binding 0 TTCTTTGGCACACACGAAACG 0.602 NaN 0 0 0 0.006122 0 18 29 FBN3 84467 broad.mit.edu 37 19 8193911 8193911 + Splice_Site SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:8193911C>T uc002mjf.2 - 17 2317 c.2296_splice c.e17+1 p.D766_splice NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 GGACCCAGTACCTTTGCAGAT 0.592 NaN 0 0 0 0.008871 0 17 39 ZNF700 90592 broad.mit.edu 37 19 12059541 12059541 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:12059541C>T uc002msu.2 + 4 828 c.702C>T c.(700-702)TTC>TTT p.F234F ZNF700_uc010xme.1_Silent_p.F252F|ZNF763_uc010xmf.1_Intron NM_144566 NP_653167 Q9H0M5 ZN700_HUMAN zinc finger protein 700 234 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TCCATTCTTTCAGTTTATATC 0.348 NaN 0 0 0 0.012319 0 22 81 ZSWIM4 65249 broad.mit.edu 37 19 13936478 13936478 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:13936478C>T uc002mxh.1 + 11 2168 c.1979C>T c.(1978-1980)GCC>GTC p.A660V ZSWIM4_uc010xng.1_Missense_Mutation_p.A583V NM_023072 NP_075560 Q9H7M6 ZSWM4_HUMAN zinc finger, SWIM-type containing 4 660 zinc ion binding p.A660A(1) central_nervous_system(2) 2 OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19) CCGGTCAGCGCCCCACCAGAC 0.677 NaN 0 0 0 0.013726 0 30 24 ZNF626 199777 broad.mit.edu 37 19 20807939 20807939 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:20807939C>G uc002npb.1 - 4 894 c.744G>C c.(742-744)AAG>AAC p.K248N ZNF626_uc002npc.1_Missense_Mutation_p.K172N NM_001076675 NP_001070143 Q68DY1 ZN626_HUMAN zinc finger protein 626 isoform 1 248 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 TATGATTTCTCTTATGTGTAG 0.383 NaN 0 0 0 0.013114 0 45 104 APLP1 333 broad.mit.edu 37 19 36369852 36369852 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:36369852C>T uc002oce.2 + 15 1846 c.1708C>T c.(1708-1710)CTG>TTG p.L570L APLP1_uc010xsz.1_Silent_p.L531L|APLP1_uc002ocf.2_Silent_p.L571L|APLP1_uc002ocg.2_Silent_p.L474L|APLP1_uc010xta.1_Silent_p.L564L NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 570 Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GAGGGATGAGCTGGTAAGAGG 0.582 NaN 0 0 0 0.01441 0 51 23 MEGF8 1954 broad.mit.edu 37 19 42830399 42830399 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:42830399G>A uc002otl.3 + 1 639 c.4G>A c.(4-6)GCC>ACC p.A2T NM_001410 NP_001401 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 2 integral to membrane calcium ion binding|structural molecule activity ovary(1) 1 Prostate(69;0.00682) GGCGGCGATGGCCCTGGGCAA 0.672 NaN OREG0025502 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.013537 0 12 12 PSG7 5676 broad.mit.edu 37 19 43439844 43439844 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:43439844C>G uc002ovl.3 - 2 244 c.142G>C c.(142-144)GGG>CGG p.G48R PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Intron NM_002783 NP_002774 Q13046 PSG7_HUMAN pregnancy specific beta-1-glycoprotein 7 48 Ig-like V-type. female pregnancy extracellular region 0 Prostate(69;0.00682) ACATCCTTCCCCTCGGAAACT 0.488 NaN 0 0 0 0.01441 0 41 294 IRGQ 126298 broad.mit.edu 37 19 44099434 44099434 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:44099434C>T uc002oww.2 - 1 175 c.57G>A c.(55-57)GGG>GGA p.G19G IRGQ_uc010eiv.2_Silent_p.G19G|ZNF576_uc002owy.2_5'Flank|ZNF576_uc002owz.2_5'Flank|SRRM5_uc002oxb.2_5'Flank NM_001007561 NP_001007562 Q8WZA9 IRGQ_HUMAN immunity-related GTPase family, Q 19 protein binding ovary(1)|pancreas(1) 2 Prostate(69;0.0199) GCGCGGACTTCCCCAAGCCCG 0.682 NaN 0 0 0 0.020292 0 14 48 PVRL2 5819 broad.mit.edu 37 19 45375390 45375390 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:45375390G>A uc002ozw.1 + 3 1149 c.759G>A c.(757-759)GTG>GTA p.V253V PVRL2_uc002ozv.2_Silent_p.V253V NM_001042724 NP_001036189 Q92692 PVRL2_HUMAN poliovirus receptor related 2 isoform delta 253 Ig-like C2-type 1.|Extracellular (Potential). adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) TGATACCTGTGACCCTCTCTG 0.567 NaN 0 0 0 0.00499 0 17 93 CCDC114 93233 broad.mit.edu 37 19 48800570 48800570 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:48800570T>C uc002pir.2 - 14 2359 c.1676A>G c.(1675-1677)CAC>CGC p.H559R CCDC114_uc002piq.2_Missense_Mutation_p.H368R|CCDC114_uc002pio.2_3'UTR NM_144577 NP_653178 Q96M63 CC114_HUMAN coiled-coil domain containing 114 isoform 2 559 ovary(1) 1 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143) AAAAGTGACGTGGCCAAGAGA 0.637 NaN 0 0 0 0.008871 0 18 21 C19orf41 126123 broad.mit.edu 37 19 50666011 50666011 + Missense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:50666011C>A uc002prp.1 - 2 379 c.292G>T c.(292-294)GGT>TGT p.G98C NM_152358 NP_689571 Q6UXV1 IZUM2_HUMAN hypothetical protein LOC126123 precursor 98 Extracellular (Potential). integral to membrane 0 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00364)|OV - Ovarian serous cystadenocarcinoma(262;0.0052) AGAGAGTTACCCATTAAGTGC 0.537 NaN 1 0 1.06647e-15 0.017118 1.14365e-15 31 67 LILRB2 10288 broad.mit.edu 37 19 54782754 54782754 + Missense_Mutation SNP A A G rs143661416 byFrequency TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:54782754A>G uc002qfb.2 - 6 1134 c.868T>C c.(868-870)TAC>CAC p.Y290H LILRA6_uc002qew.1_Intron|LILRB2_uc010eri.2_Missense_Mutation_p.Y290H|LILRB2_uc010erj.2_RNA|LILRB2_uc002qfc.2_Missense_Mutation_p.Y290H|LILRB2_uc010yet.1_Missense_Mutation_p.Y174H|LILRB2_uc010yeu.1_RNA NM_005874 NP_005865 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, 290 Extracellular (Potential).|Ig-like C2-type 3. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity skin(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGCCCCCGTAGGAGCGGCTC 0.667 NaN 0 0 0 0.00499 0 13 52 KIR2DL3 3804 broad.mit.edu 37 19 55263182 55263182 + Missense_Mutation SNP A A T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:55263182A>T uc002qgv.2 + 6 815 c.797A>T c.(796-798)CAT>CTT p.H266L KIR2DL3_uc002qgx.2_Missense_Mutation_p.H266L|KIR2DL3_uc002qgy.2_Missense_Mutation_p.H168L|KIR2DL3_uc010erw.1_Missense_Mutation_p.H266L|KIR2DL1_uc002qgz.1_Intron|KIR2DL3_uc002qha.1_Intron NM_015868 NP_056952 P43628 KI2L3_HUMAN killer cell immunoglobulin-like receptor, two 266 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane antigen binding|protein binding|receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(193;0.0192) tttctccttcATCGCTGGTGC 0.438 NaN 0 0 0 0.01441 0 62 115 SYT5 6861 broad.mit.edu 37 19 55689707 55689707 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr19:55689707G>T uc002qjm.1 - 2 1169 c.109C>A c.(109-111)CTG>ATG p.L37M SYT5_uc002qjp.2_Intron|SYT5_uc002qjn.1_Missense_Mutation_p.L37M|SYT5_uc002qjo.1_Missense_Mutation_p.L37M NM_003180 NP_003171 O00445 SYT5_HUMAN synaptotagmin V 37 Helical; (Potential). energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity 0 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) CCTGAGACCAGCACGATGGTG 0.617 NaN 1 0 2.74318e-10 0.006214 2.88476e-10 9 5 PKDCC 91461 broad.mit.edu 37 2 42284440 42284440 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:42284440C>T uc002rsg.2 + 6 1481 c.1302C>T c.(1300-1302)CTC>CTT p.L434L NM_138370 NP_612379 Q504Y2 PKDCC_HUMAN protein kinase-like protein SgK493 434 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(1) 1 GGAGCTGCCTCCTTTCAGTGT 0.592 NaN 0 0 0 0.007835 0 39 119 PPM1B 5495 broad.mit.edu 37 2 44429053 44429053 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:44429053A>G uc002rtt.2 + 2 1143 c.715A>G c.(715-717)ATC>GTC p.I239V PPM1B_uc002rts.2_Missense_Mutation_p.I239V|PPM1B_uc002rtu.2_Missense_Mutation_p.I239V|PPM1B_uc002rtv.2_Intron|PPM1B_uc002rtw.2_Missense_Mutation_p.I239V|PPM1B_uc002rtx.2_Missense_Mutation_p.I239V NM_002706 NP_002697 O75688 PPM1B_HUMAN protein phosphatase 1B isoform 1 239 protein dephosphorylation protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity kidney(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGAATTTATCATCTTGGCTTG 0.408 NaN 0 0 0 0.007835 0 38 61 SLC4A5 57835 broad.mit.edu 37 2 74474321 74474321 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:74474321C>T uc002sko.1 - 14 1903 c.1901G>A c.(1900-1902)CGC>CAC p.R634H SLC4A5_uc002skl.2_RNA|SLC4A5_uc002skn.2_Missense_Mutation_p.R634H|SLC4A5_uc010ffc.1_Missense_Mutation_p.R634H|SLC4A5_uc002skp.1_Missense_Mutation_p.R570H|SLC4A5_uc002sks.1_Missense_Mutation_p.R634H NM_021196 NP_067019 Q9BY07 S4A5_HUMAN sodium bicarbonate transporter 4 isoform a 634 Extracellular (Potential). apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity ovary(5)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 9 CTCGGTGAAGCGGGTGATATA 0.488 NaN 0 0 0 0.014323 0 22 190 MRPL35 51318 broad.mit.edu 37 2 86434368 86434368 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:86434368C>T uc002srg.3 + 3 354 c.296C>T c.(295-297)GCA>GTA p.A99V MRPL35_uc002srf.3_Missense_Mutation_p.A99V NM_016622 NP_057706 Q9NZE8 RM35_HUMAN mitochondrial ribosomal protein L35 isoform a 99 translation mitochondrial ribosome structural constituent of ribosome 0 TACTTCAGTGCAAGAAAAGGC 0.418 NaN 0 0 0 0.008291 0 9 60 KIAA1310 55683 broad.mit.edu 37 2 97268530 97268530 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:97268530G>A uc002swn.3 - 18 2365 c.2219C>T c.(2218-2220)TCT>TTT p.S740F KIAA1310_uc002swh.3_Missense_Mutation_p.S626F|KIAA1310_uc002swi.3_Missense_Mutation_p.S667F|KIAA1310_uc002swj.3_RNA|KIAA1310_uc002swk.3_Missense_Mutation_p.S653F|KIAA1310_uc010fhz.2_Missense_Mutation_p.S560F|KIAA1310_uc002swl.3_Missense_Mutation_p.S639F|KIAA1310_uc002swm.3_RNA|KIAA1310_uc010yur.1_Missense_Mutation_p.S534F|KIAA1310_uc002swo.2_Missense_Mutation_p.S88F NM_001115016 NP_001108488 Q9P2N6 K1310_HUMAN hypothetical protein LOC55683 isoform a 766 Ser-rich. 0 TGGAAGGCCAGAGGTCTTGCT 0.592 NaN 0 0 0 0.00632 0 24 104 MAP4K4 9448 broad.mit.edu 37 2 102460640 102460640 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:102460640C>T uc002tbg.2 + 12 1155 c.1100C>T c.(1099-1101)TCC>TTC p.S367F MAP4K4_uc002tbc.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbd.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbe.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbf.2_Missense_Mutation_p.S367F|MAP4K4_uc010yvy.1_Missense_Mutation_p.S367F|MAP4K4_uc002tbh.2_Missense_Mutation_p.S367F|MAP4K4_uc002tbi.2_Missense_Mutation_p.S220F|MAP4K4_uc010yvz.1_Missense_Mutation_p.S347F|MAP4K4_uc002tbk.2_5'UTR|MAP4K4_uc002tbj.1_Missense_Mutation_p.S263F NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 367 intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 AAGGAACGTTCCGAGGCTCTT 0.512 NaN 0 0 0 0.014758 0 5 28 ANAPC1 64682 broad.mit.edu 37 2 112621282 112621282 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:112621282G>A uc002thi.2 - 9 1269 c.1022C>T c.(1021-1023)TCA>TTA p.S341L NM_022662 NP_073153 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 341 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm skin(2) 2 AATAGAAGGTGAGCGAGAATG 0.428 NaN 0 0 0 0.007413 0 17 107 GPR148 344561 broad.mit.edu 37 2 131487541 131487541 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:131487541T>C uc002trv.1 + 1 819 c.817T>C c.(817-819)TAC>CAC p.Y273H NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 273 Helical; Name=6; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) GATCACATTGTACGTGAGCAC 0.582 NaN 0 0 0 0.01441 0 76 75 FAM168B 130074 broad.mit.edu 37 2 131812980 131812980 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:131812980G>A uc002tsd.2 - 5 569 c.340C>T c.(340-342)CAC>TAC p.H114Y NM_001009993 NP_001009993 A1KXE4 F168B_HUMAN hypothetical protein LOC130074 114 0 TGGATGACGTGAGGAGGTGCT 0.617 NaN 0 0 0 0.01441 0 64 69 NCKAP5 344148 broad.mit.edu 37 2 133540922 133540922 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:133540922C>G uc002ttp.2 - 14 3836 c.3462G>C c.(3460-3462)ATG>ATC p.M1154I NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1154 protein binding 0 GGGGAGACTTCATGAGCACTT 0.488 NaN 0 0 0 0.013726 0 34 102 LRP1B 53353 broad.mit.edu 37 2 141245258 141245258 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:141245258G>C uc002tvj.1 - 58 10143 c.9171C>G c.(9169-9171)ATC>ATG p.I3057M NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 3057 Extracellular (Potential).|LDL-receptor class B 28. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CGATCCAATAGATGAATTCTT 0.308 NaN TSP Lung(27;0.18) 0 0 0 0.021022 0 38 80 FAP 2191 broad.mit.edu 37 2 163075644 163075644 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:163075644G>A uc002ucd.2 - 8 744 c.536C>T c.(535-537)CCA>CTA p.P179L FAP_uc010zct.1_Missense_Mutation_p.P154L|FAP_uc010fpd.2_Intron|FAP_uc010fpe.1_Missense_Mutation_p.P146L NM_004460 NP_004451 Q12884 SEPR_HUMAN fibroblast activation protein, alpha subunit 179 Extracellular (Potential). endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity ovary(3) 3 TTGAAAAGGTGGATCTCCTGG 0.328 NaN 0 0 0 0.01441 0 84 90 IFIH1 64135 broad.mit.edu 37 2 163144789 163144789 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:163144789C>G uc002uce.2 - 5 1173 c.951G>C c.(949-951)CAG>CAC p.Q317H NM_022168 NP_071451 Q9BYX4 IFIH1_HUMAN interferon induced with helicase C domain 1 317 Helicase ATP-binding. detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis cytosol|nucleus ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding ovary(1) 1 CCAAGGCTGGCTGGGCAACTT 0.478 NaN 0 0 0 0.012213 0 33 86 CHN1 1123 broad.mit.edu 37 2 175664879 175664879 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:175664879C>G uc002uji.2 - 13 1875 c.1345G>C c.(1345-1347)GAG>CAG p.E449Q CHN1_uc010zeq.1_Missense_Mutation_p.E423Q|CHN1_uc002ujj.2_Missense_Mutation_p.E224Q|CHN1_uc002ujg.2_Missense_Mutation_p.E324Q NM_001822 NP_001813 P15882 CHIN_HUMAN chimerin (chimaerin) 1 isoform a 449 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(117;0.226) ATAAGCAGCTCCACCACCAGT 0.358 NaN T TAF15 extraskeletal myxoid chondrosarcoma 0 0 0 0.006122 0 18 25 TTN 7273 broad.mit.edu 37 2 179412163 179412163 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:179412163G>A uc010zfg.1 - 288 86710 c.86486C>T c.(86485-86487)TCA>TTA p.S28829L uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.S22524L|TTN_uc010zfi.1_Missense_Mutation_p.S22457L|TTN_uc010zfj.1_Missense_Mutation_p.S22332L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29756 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) TATTGGTGCTGATTCTAGAGG 0.323 NaN 0 0 0 0.001168 0 6 23 TTN 7273 broad.mit.edu 37 2 179462655 179462655 + Missense_Mutation SNP A A G rs78509062 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:179462655A>G uc010zfg.1 - 242 49762 c.49538T>C c.(49537-49539)ATT>ACT p.I16513T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.I10208T|TTN_uc010zfi.1_Missense_Mutation_p.I10141T|TTN_uc010zfj.1_Missense_Mutation_p.I10016T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17440 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) CTTCATTTCAATGACATCTGT 0.368 NaN 0 0 0 0.01441 0 50 92 STAT1 6772 broad.mit.edu 37 2 191847160 191847160 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:191847160T>C uc002usj.2 - 18 1919 c.1531A>G c.(1531-1533)AAA>GAA p.K511E STAT1_uc010fse.1_Missense_Mutation_p.K511E|STAT1_uc002usk.2_Missense_Mutation_p.K511E|STAT1_uc002usl.2_Missense_Mutation_p.K513E|STAT1_uc010fsf.1_Missense_Mutation_p.K323E NM_007315 NP_009330 P42224 STAT1_HUMAN signal transducer and activator of transcription 511 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity lung(3)|breast(3)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AGACCTCTTTTGGTGACAGAA 0.403 NaN 0 0 0 0.01441 0 96 115 C2orf60 129450 broad.mit.edu 37 2 200800710 200800710 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:200800710G>C uc002uvi.3 - 7 901 c.635C>G c.(634-636)TCC>TGC p.S212C C2orf60_uc002uvj.3_Missense_Mutation_p.S49C|C2orf60_uc002uvk.3_RNA|C2orf60_uc010fss.2_Missense_Mutation_p.S49C NM_001039693 NP_001034782 A2RUC4 TYW5_HUMAN hypothetical protein LOC129450 212 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding 0 TCTAGCCTTGGAAAAAAGTGG 0.333 NaN 0 0 0 0.007835 0 43 163 MYL1 4632 broad.mit.edu 37 2 211158490 211158490 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:211158490C>T uc002vec.2 - 5 642 c.513G>A c.(511-513)CTG>CTA p.L171L MYL1_uc002veb.2_Silent_p.L127L NM_079420 NP_524144 P05976 MYL1_HUMAN fast skeletal myosin alkali light chain 1 171 EF-hand 3. muscle filament sliding|muscle organ development cytosol|muscle myosin complex|sarcomere calcium ion binding|structural constituent of muscle ovary(1) 1 Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057) GACCTGCCATCAGGGCTTCCA 0.423 NaN 0 0 0 0.01441 0 56 243 CPS1 1373 broad.mit.edu 37 2 211525295 211525295 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:211525295G>A uc002vee.3 + 32 3975 c.3843G>A c.(3841-3843)AAG>AAA p.K1281K CPS1_uc010fur.2_Silent_p.K1287K|CPS1_uc010fus.2_Silent_p.K830K NM_001875 NP_001866 P31327 CPSM_HUMAN carbamoyl-phosphate synthetase 1 isoform b 1281 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity ovary(8)|central_nervous_system(3)|breast(1)|skin(1) 13 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGGCCACCAAGGTGATGATTG 0.403 NaN 0 0 0 0.01441 0 87 221 ERBB4 2066 broad.mit.edu 37 2 212522499 212522499 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:212522499G>A uc002veg.1 - 16 2024 c.1926C>T c.(1924-1926)TCC>TCT p.S642S ERBB4_uc002veh.1_Silent_p.S642S|ERBB4_uc010zji.1_Intron|ERBB4_uc010zjj.1_Intron|ERBB4_uc010fut.1_Silent_p.S642S NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 642 Extracellular (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) GTGGTAAAGTGGAATGGCCCG 0.428 NaN TSP Lung(8;0.080) 0 0 0 0.01441 0 45 57 ARMC9 80210 broad.mit.edu 37 2 232156134 232156134 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:232156134C>T uc002vrq.3 + 18 1807 c.1695C>T c.(1693-1695)TTC>TTT p.F565F ARMC9_uc002vrp.3_Silent_p.F565F|ARMC9_uc002vrr.1_RNA NM_025139 NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 565 binding ovary(1) 1 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AGATAGAATTCATCATCAAGC 0.378 NaN 0 0 0 0.01441 0 46 88 DIS3L2 129563 broad.mit.edu 37 2 232995343 232995343 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr2:232995343G>A uc010fxz.2 + 7 892 c.616G>A c.(616-618)GAT>AAT p.D206N DIS3L2_uc002vsm.3_RNA|DIS3L2_uc002vsn.1_Missense_Mutation_p.D206N|DIS3L2_uc002vso.2_RNA NM_152383 NP_689596 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. 206 exonuclease activity|ribonuclease activity|RNA binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) AGAGGATGGTGATGCACCGGT 0.393 NaN 0 0 0 0.010504 0 20 32 DEFB125 245938 broad.mit.edu 37 20 76884 76884 + Silent SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:76884G>C uc002wcw.2 + 2 297 c.297G>C c.(295-297)CTG>CTC p.L99L NM_153325 NP_697020 Q8N687 DB125_HUMAN defensin, beta 125 preproprotein 99 defense response to bacterium extracellular region ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.156) TGAATGATCTGATAACATTTG 0.423 NaN 0 0 0 0.01441 0 173 127 MCM8 84515 broad.mit.edu 37 20 5935320 5935320 + Missense_Mutation SNP T T G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:5935320T>G uc002wmi.2 + 4 697 c.320T>G c.(319-321)ATT>AGT p.I107S MCM8_uc002wmj.2_Missense_Mutation_p.I107S|MCM8_uc002wmk.2_Missense_Mutation_p.I107S|MCM8_uc002wml.2_Missense_Mutation_p.I107S|MCM8_uc010gbp.2_Missense_Mutation_p.I107S NM_032485 NP_115874 Q9UJA3 MCM8_HUMAN minichromosome maintenance complex component 8 107 cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|nucleoside-triphosphatase activity skin(1) 1 ACAAGGCATATTGATTTGTAT 0.318 NaN 0 0 0 0.00499 0 16 58 PCSK2 5126 broad.mit.edu 37 20 17446013 17446013 + Silent SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:17446013C>G uc002wpm.2 + 11 1565 c.1245C>G c.(1243-1245)CTC>CTG p.L415L PCSK2_uc002wpl.2_Silent_p.L396L|PCSK2_uc010zrm.1_Silent_p.L380L|PCSK2_uc002wpn.2_Silent_p.L69L NM_002594 NP_002585 P16519 NEC2_HUMAN proprotein convertase subtilisin/kexin type 2 415 Catalytic. enkephalin processing|insulin processing|islet amyloid polypeptide processing extracellular space|membrane|soluble fraction|transport vesicle serine-type endopeptidase activity ovary(3)|central_nervous_system(2)|large_intestine(1)|pancreas(1) 7 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGACTGTGCTCACCTCCAAAC 0.582 NaN 0 0 0 0.014758 0 3 24 SSTR4 6754 broad.mit.edu 37 20 23017255 23017255 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:23017255C>T uc002wsr.2 + 1 1199 c.1135C>T c.(1135-1137)CGC>TGC p.R379C NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 379 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGGCCGCAAGCGCATCCCCCT 0.657 NaN 0 0 0 0.008871 0 17 60 RBM39 9584 broad.mit.edu 37 20 34295071 34295071 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:34295071G>C uc002xeb.2 - 14 1622 c.1278C>G c.(1276-1278)TTC>TTG p.F426L RBM39_uc002xdz.2_Missense_Mutation_p.F402L|RBM39_uc002xea.2_Missense_Mutation_p.F269L|RBM39_uc010gfn.2_Missense_Mutation_p.F269L|RBM39_uc010zvm.1_Missense_Mutation_p.F398L|RBM39_uc002xeg.2_Missense_Mutation_p.F404L|RBM39_uc002xec.2_Missense_Mutation_p.F420L|RBM39_uc002xed.2_Missense_Mutation_p.F144L|RBM39_uc002xee.2_Missense_Mutation_p.F269L|RBM39_uc002xef.2_Missense_Mutation_p.F263L|RBM39_uc010zvn.1_Missense_Mutation_p.F269L NM_184234 NP_909122 Q14498 RBM39_HUMAN RNA binding motif protein 39 isoform a 426 Interaction with NCOA6 (By similarity). mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent centrosome|nuclear speck nucleotide binding|protein binding|RNA binding ovary(1)|central_nervous_system(1) 2 all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676) TAGAGAGTTGGAAACATTGTG 0.333 NaN 0 0 0 0.00499 0 14 67 AURKA 6790 broad.mit.edu 37 20 54945601 54945601 + Missense_Mutation SNP T T G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:54945601T>G uc002xxd.1 - 10 1535 c.969A>C c.(967-969)TTA>TTC p.L323F AURKA_uc002xxe.1_Missense_Mutation_p.L323F|AURKA_uc002xxf.1_Missense_Mutation_p.L323F|AURKA_uc002xxg.1_Missense_Mutation_p.L323F|AURKA_uc002xxh.1_Missense_Mutation_p.L323F|AURKA_uc002xxi.1_Missense_Mutation_p.L323F|AURKA_uc002xxj.1_Missense_Mutation_p.L323F|AURKA_uc002xxk.1_Missense_Mutation_p.L323F|AURKA_uc010zzd.1_RNA NM_198433 NP_940835 O14965 AURKA_HUMAN serine/threonine protein kinase 6 323 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome ATP binding|protein kinase binding|protein serine/threonine kinase activity lung(3)|ovary(2)|breast(1)|large_intestine(1)|skin(1) 8 Colorectal(105;0.202) GCTTCCCAACTAAAAATTCAT 0.478 NaN 0 0 0 0.013726 0 30 88 ZGPAT 84619 broad.mit.edu 37 20 62340259 62340259 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr20:62340259G>A uc002ygk.2 + 2 505 c.327G>A c.(325-327)GCG>GCA p.A109A ARFRP1_uc002yga.2_5'Flank|ARFRP1_uc002ygc.2_5'Flank|ARFRP1_uc002ygh.3_5'Flank|ARFRP1_uc011abf.1_5'Flank|ARFRP1_uc011abg.1_5'Flank|ARFRP1_uc002yge.2_5'Flank|ARFRP1_uc002ygd.2_5'Flank|ARFRP1_uc002ygf.2_5'Flank|ARFRP1_uc002ygg.2_5'Flank|ARFRP1_uc011abh.1_5'Flank|ZGPAT_uc002ygi.2_Silent_p.A109A|ZGPAT_uc002ygj.2_Silent_p.A109A|ZGPAT_uc010gkk.1_Intron|ZGPAT_uc010gkl.1_Silent_p.A109A|ZGPAT_uc002ygm.2_Silent_p.A109A|ZGPAT_uc002ygn.3_RNA NM_032527 NP_115916 Q8N5A5 ZGPAT_HUMAN zinc finger, CCCH-type with G patch domain 109 negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09) AAGCAGAGGCGGGGCCAGAAT 0.547 NaN 0 0 0 0.014323 0 19 37 NCAM2 4685 broad.mit.edu 37 21 22656638 22656638 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:22656638A>G uc002yld.1 + 3 504 c.255A>G c.(253-255)ATA>ATG p.I85M NCAM2_uc011acb.1_Intron|NCAM2_uc011acc.1_Missense_Mutation_p.I110M NM_004540 NP_004531 O15394 NCAM2_HUMAN neural cell adhesion molecule 2 precursor 85 Ig-like C2-type 1.|Extracellular (Potential). neuron cell-cell adhesion integral to membrane|plasma membrane ovary(4) 4 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) ATGCAAATATAGAAGATGCAG 0.368 NaN 0 0 0 0.01441 0 49 87 KRTAP6-3 337968 broad.mit.edu 37 21 31964950 31964950 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:31964950C>T uc002yom.2 + 1 192 c.186C>T c.(184-186)GGC>GGT p.G62G NM_181605 NP_853636 keratin associated protein 6-3 0 gaggcctgggctgtggctatg 0.085 NaN 0 0 0 0.00499 0 14 27 SFRS15 57466 broad.mit.edu 37 21 33076179 33076179 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:33076179G>A uc002ypd.2 - 4 646 c.220C>T c.(220-222)CGT>TGT p.R74C SFRS15_uc002ype.2_Missense_Mutation_p.R74C|SFRS15_uc010glu.2_Missense_Mutation_p.R59C|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.R74C NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 74 CID. nucleus nucleotide binding|RNA binding 0 AACTGATGACGAGACTGTCGC 0.353 NaN 0 0 0 0.01441 0 63 144 BRWD1 54014 broad.mit.edu 37 21 40636481 40636481 + Missense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:40636481C>A uc002yxk.1 - 17 1929 c.1790G>T c.(1789-1791)GGA>GTA p.G597V BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.G597V|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Missense_Mutation_p.G50V|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.G317V NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 597 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATGAGGATTTCCATCTACATC 0.413 NaN 1 0 7.41877e-09 0.012319 7.70229e-09 11 170 BRWD1 54014 broad.mit.edu 37 21 40636563 40636563 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:40636563C>T uc002yxk.1 - 17 1847 c.1708G>A c.(1708-1710)GAT>AAT p.D570N BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D570N|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.D23N|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.D290N NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TTATTAGAATCTCTAATAAGT 0.373 NaN 0 0 0 0.010729 0 8 83 BRWD1 54014 broad.mit.edu 37 21 40636565 40636565 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:40636565C>T uc002yxk.1 - 17 1845 c.1706G>A c.(1705-1707)AGA>AAA p.R569K BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.R569K|BRWD1_uc010goe.1_Intron|BRWD1_uc010gof.1_Missense_Mutation_p.R22K|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.R289K NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 569 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTAGAATCTCTAATAAGTGG 0.378 NaN 0 0 0 0.008291 0 8 83 BRWD1 54014 broad.mit.edu 37 21 40636822 40636822 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:40636822C>T uc002yxk.1 - 16 1793 c.1654G>A c.(1654-1656)GAA>AAA p.E552K BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.E552K|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.E272K NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 552 WD 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATGACCTTTTCATATGGTTTG 0.358 NaN 0 0 0 0.010729 0 10 118 BRWD1 54014 broad.mit.edu 37 21 40636873 40636873 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:40636873C>G uc002yxk.1 - 16 1742 c.1603G>C c.(1603-1605)GAT>CAT p.D535H BRWD1_uc010goc.1_5'UTR|BRWD1_uc002yxl.2_Missense_Mutation_p.D535H|BRWD1_uc010goe.1_RNA|BRWD1_uc010gof.1_Intron|BRWD1_uc010gog.1_RNA|BRWD1_uc010goh.1_RNA|BRWD1_uc010goi.1_Missense_Mutation_p.D255H NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 535 WD 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CCATGAGAATCTGTACAGGCA 0.373 NaN OREG0003860 type=REGULATORY REGION|Gene=AK125906|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 0 0 0 0.016723 0 10 144 SLC19A1 6573 broad.mit.edu 37 21 46945798 46945798 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr21:46945798A>G uc002zhl.1 - 5 1345 c.1226T>C c.(1225-1227)ATC>ACC p.I409T SLC19A1_uc010gpy.1_Missense_Mutation_p.I409T|SLC19A1_uc011aft.1_Missense_Mutation_p.I369T|SLC19A1_uc002zhm.1_Missense_Mutation_p.I409T|SLC19A1_uc010gpz.1_Missense_Mutation_p.I288T NM_194255 NP_919231 P41440 S19A1_HUMAN solute carrier family 19 member 1 409 Helical; (Probable). folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity 0 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) GGTCTTGACGATGGTGGCAAA 0.577 NaN 0 0 0 0.00632 0 25 82 P2RX6 9127 broad.mit.edu 37 22 21377871 21377871 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr22:21377871A>G uc010gsu.1 + 8 854 c.854A>G c.(853-855)TAC>TGC p.Y285C P2RX6_uc002ztz.2_Missense_Mutation_p.Y259C|P2RX6_uc002zua.2_RNA|P2RX6_uc002zuc.1_RNA NM_005446 NP_005437 O15547 P2RX6_HUMAN purinergic receptor P2X6 isoform 1 285 Extracellular (Potential). muscle contraction|protein homooligomerization cell junction|cytoplasm|integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity 0 TGGCCTCACTACTCCTTCCAG 0.607 NaN 0 0 0 0.004482 0 8 21 RASL10A 10633 broad.mit.edu 37 22 29709953 29709953 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr22:29709953C>G uc003aff.2 - 2 756 c.243G>C c.(241-243)TGG>TGC p.W81C RASL10A_uc003afg.2_Missense_Mutation_p.W81C NM_006477 NP_006468 Q92737 RSLAA_HUMAN RAS-related on chromosome 22 isoform a 81 Small GTPase-like. small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity 0 CCTGCAAGCTCCAGTCCTTAG 0.637 NaN 0 0 0 0.00632 0 22 41 PKDREJ 10343 broad.mit.edu 37 22 46655856 46655856 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr22:46655856C>T uc003bhh.2 - 1 3364 c.3364G>A c.(3364-3366)GGT>AGT p.G1122S NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN receptor for egg jelly-like protein precursor 1122 Extracellular (Potential). acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity breast(3)|ovary(2) 5 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTCTTCTCACCAAGAATGCAA 0.498 NaN 0 0 0 0.006999 0 39 183 ZBED4 9889 broad.mit.edu 37 22 50280171 50280171 + Missense_Mutation SNP T T A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr22:50280171T>A uc003bix.2 + 2 3331 c.2861T>A c.(2860-2862)CTC>CAC p.L954H NM_014838 NP_055653 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 954 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity ovary(2) 2 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) ATGTCCACCCTCAGCCAGGTC 0.602 NaN 0 0 0 0.010729 0 9 41 BRPF1 7862 broad.mit.edu 37 3 9786008 9786008 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:9786008G>T uc003bse.2 + 9 3117 c.2718G>T c.(2716-2718)AAG>AAT p.K906N BRPF1_uc003bsf.2_Missense_Mutation_p.K912N|BRPF1_uc003bsg.2_Missense_Mutation_p.K905N|BRPF1_uc011ati.1_Intron NM_004634 NP_004625 P55201 BRPF1_HUMAN bromodomain and PHD finger-containing protein 1 906 Required for RUNX1 and RUNX2 transcriptional activation. histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane DNA binding|zinc ion binding ovary(2)|central_nervous_system(1) 3 Medulloblastoma(99;0.227) GACCGCCCAAGAGGCCGGGCC 0.647 NaN 1 0 3.09479e-21 0.006999 3.38557e-21 39 72 ENTPD3 956 broad.mit.edu 37 3 40464569 40464569 + Missense_Mutation SNP T T A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:40464569T>A uc003ckd.3 + 8 1152 c.1060T>A c.(1060-1062)TCT>ACT p.S354T ENTPD3_uc010hhy.2_Missense_Mutation_p.S354T|uc003cke.3_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN ectonucleoside triphosphate diphosphohydrolase 354 Extracellular (Potential). integral to membrane ATP binding|hydrolase activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) AGAAACCTGTTCTTTTGATGG 0.408 NaN 0 0 0 0.01441 0 82 105 ULK4 54986 broad.mit.edu 37 3 41841697 41841697 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:41841697C>T uc003ckv.3 - 20 2138 c.1937G>A c.(1936-1938)GGA>GAA p.G646E ULK4_uc003ckw.2_Missense_Mutation_p.G646E NM_017886 NP_060356 Q96C45 ULK4_HUMAN unc-51-like kinase 4 646 ATP binding|protein serine/threonine kinase activity 0 KIRC - Kidney renal clear cell carcinoma(284;0.214) TCCTATTTCTCCTGTAATAAA 0.418 NaN 0 0 0 0.01441 0 109 176 NKTR 4820 broad.mit.edu 37 3 42678913 42678913 + Nonsense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:42678913C>T uc003clo.2 + 13 1864 c.1717C>T c.(1717-1719)CAG>TAG p.Q573* NKTR_uc003clm.1_Nonsense_Mutation_p.Q320*|NKTR_uc003clp.2_Nonsense_Mutation_p.Q320*|NKTR_uc011azp.1_Intron|NKTR_uc003clq.1_Nonsense_Mutation_p.Q463*|NKTR_uc003clr.1_Nonsense_Mutation_p.Q320*|NKTR_uc003cls.2_Nonsense_Mutation_p.Q273* NM_005385 NP_005376 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 573 Arg/Ser-rich. protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity ovary(2)|skin(1) 3 KIRC - Kidney renal clear cell carcinoma(284;0.24) AACAGCTTCTCAGTTAAGTGA 0.378 NaN 0 0 0 0.01441 0 53 184 ZNF167 55888 broad.mit.edu 37 3 44612062 44612062 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:44612062G>C uc010hin.2 + 6 1848 c.1460G>C c.(1459-1461)AGA>ACA p.R487T ZNF167_uc003cnh.2_RNA|ZNF167_uc003cni.2_Intron|ZNF167_uc010hio.2_Missense_Mutation_p.R336T|ZNF167_uc003cnj.2_Missense_Mutation_p.R487T|ZNF167_uc003cnk.2_Intron NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN zinc finger protein 167 isoform 1 487 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) GACCACCAGAGAACCCATACT 0.458 NaN 0 0 0 0.009718 0 40 164 ZNF197 10168 broad.mit.edu 37 3 44674010 44674010 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:44674010G>A uc003cnm.2 + 5 894 c.688G>A c.(688-690)GAA>AAA p.E230K ZNF197_uc003cnn.2_Missense_Mutation_p.E230K|ZNF197_uc003cno.2_RNA|ZNF197_uc003cnp.2_Missense_Mutation_p.E230K NM_006991 NP_008922 O14709 ZN197_HUMAN zinc finger protein 197 isoform 1 230 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(3)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598) CACTTCAGAGGAATGGGCATG 0.473 NaN 0 0 0 0.016723 0 12 368 TGM4 7047 broad.mit.edu 37 3 44945406 44945406 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:44945406G>A uc003coc.3 + 9 1075 c.1002G>A c.(1000-1002)ATG>ATA p.M334I NM_003241 NP_003232 P49221 TGM4_HUMAN transglutaminase 4 (prostate) 334 peptide cross-linking|protein polyamination acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686) L-Glutamine(DB00130) ATGCCTGGATGAAGCGACCGG 0.617 NaN 0 0 0 0.015359 0 30 70 FYCO1 79443 broad.mit.edu 37 3 46006596 46006596 + Missense_Mutation SNP T T A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:46006596T>A uc003cpb.3 - 9 3285 c.3079A>T c.(3079-3081)AGC>TGC p.S1027C FYCO1_uc011bal.1_Missense_Mutation_p.S1027C NM_024513 NP_078789 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 1027 Potential. transport integral to membrane metal ion binding|protein binding central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) CCCCTGAGGCTCTTGCACTCT 0.562 NaN 0 0 0 0.021523 0 25 67 KIAA2018 205717 broad.mit.edu 37 3 113380114 113380114 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:113380114G>A uc003eam.2 - 7 826 c.415C>T c.(415-417)CCT>TCT p.P139S KIAA2018_uc003eal.2_Missense_Mutation_p.P83S NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN hypothetical protein LOC205717 139 regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity skin(2)|ovary(1) 3 TGGTCACTAGGAATAACAACA 0.363 NaN 0 0 0 0.00308 0 8 208 SR140 23350 broad.mit.edu 37 3 142747454 142747454 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:142747454G>C uc003evh.1 + 16 1675 c.1576G>C c.(1576-1578)GAG>CAG p.E526Q SR140_uc003evi.1_Missense_Mutation_p.E117Q|SR140_uc003evj.1_RNA|SR140_uc003evk.1_Missense_Mutation_p.E525Q|SR140_uc003evl.1_Missense_Mutation_p.E93Q NM_001080415 NP_001073884 O15042 SR140_HUMAN U2-associated SR140 protein 526 RNA processing nucleus nucleotide binding|RNA binding 0 AGCTTTTGTAGAGGAACCTAG 0.343 NaN 0 0 0 0.010818 0 29 80 PLOD2 5352 broad.mit.edu 37 3 145806415 145806415 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:145806415C>T uc003evs.1 - 9 1469 c.963G>A c.(961-963)CTG>CTA p.L321L PLOD2_uc003evq.1_5'Flank|PLOD2_uc011bnm.1_Silent_p.L266L|PLOD2_uc003evr.1_Silent_p.L321L NM_000935 NP_000926 O00469 PLOD2_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 321 protein modification process|response to hypoxia rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding ovary(1)|skin(1) 2 Vitamin C(DB00126) TTGGGTAATCCAGTGTCAACA 0.323 NaN 0 0 0 0.00632 0 27 56 P2RY1 5028 broad.mit.edu 37 3 152554107 152554107 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:152554107T>C uc003ezq.2 + 1 1372 c.536T>C c.(535-537)GTG>GCG p.V179A NM_002563 NP_002554 P47900 P2RY1_HUMAN purinergic receptor P2Y1 179 Helical; Name=4; (Potential). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled lung(1) 1 LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11) TGGCTCATTGTGGTGGTGGCG 0.567 NaN 0 0 0 0.005524 0 36 52 SEC62 7095 broad.mit.edu 37 3 169706098 169706098 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:169706098C>T uc003fgg.2 + 7 712 c.681C>T c.(679-681)CTC>CTT p.L227L SEC62_uc003fgh.2_Silent_p.L227L NM_003262 NP_003253 Q99442 SEC62_HUMAN translocation protein 1 227 Lumenal (Potential). cotranslational protein targeting to membrane|transmembrane transport aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum protein transporter activity|receptor activity ovary(1) 1 TTTATTACCTCAGTGTGGGTG 0.413 NaN 0 0 0 0.01441 0 60 216 CCDC50 152137 broad.mit.edu 37 3 191047481 191047481 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr3:191047481C>G uc003fsw.2 + 1 608 c.18C>G c.(16-18)ATC>ATG p.I6M CCDC50_uc003fsv.2_Missense_Mutation_p.I6M|UTS2D_uc003fsu.2_Intron NM_174908 NP_777568 Q8IVM0 CCD50_HUMAN Ymer protein short isoform 6 cytoplasm protein binding 0 all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221) LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06) GBM - Glioblastoma multiforme(46;0.000136) AAGTCAGCATCGACCAGTCCA 0.701 NaN 0 0 0 0.001168 0 4 4 TACC3 10460 broad.mit.edu 37 4 1725159 1725159 + Missense_Mutation SNP A A G rs145470576 byFrequency TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:1725159A>G uc003gdo.2 + 2 119 c.11A>G c.(10-12)CAG>CGG p.Q4R TMEM129_uc003gdn.2_5'Flank|TMEM129_uc003gdm.2_5'Flank|TACC3_uc010ibz.2_Missense_Mutation_p.Q4R|TACC3_uc003gdp.2_Missense_Mutation_p.Q4R NM_006342 NP_006333 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing 4 centrosome ovary(1)|central_nervous_system(1) 2 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) ATGAGTCTGCAGGTCTTAAAC 0.458 NaN 0 0 0 0.004672 0 3 35 EVC 2121 broad.mit.edu 37 4 5733227 5733227 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:5733227G>C uc003gil.1 + 4 644 c.460G>C c.(460-462)GAG>CAG p.E154Q EVC_uc003gim.1_RNA NM_153717 NP_714928 P57679 EVC_HUMAN Ellis van Creveld syndrome protein 154 muscle organ development integral to membrane ovary(1)|skin(1) 2 Myeloproliferative disorder(84;0.117) CCAGCCGGTAGAGGCCTCTCC 0.602 NaN 0 0 0 0.017118 0 19 27 BOD1L 259282 broad.mit.edu 37 4 13601779 13601779 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:13601779C>G uc003gmz.1 - 10 6862 c.6745G>C c.(6745-6747)GAA>CAA p.E2249Q BOD1L_uc010idr.1_Missense_Mutation_p.E1586Q NM_148894 NP_683692 Q8NFC6 BOD1L_HUMAN biorientation of chromosomes in cell division 2249 DNA binding ovary(5)|breast(1) 6 CCGTCTTTTTCTTCCATGACT 0.517 NaN 0 0 0 0.014323 0 22 6 RBM47 54502 broad.mit.edu 37 4 40434800 40434800 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:40434800G>C uc003gvc.2 - 6 2120 c.1410C>G c.(1408-1410)ATC>ATG p.I470M RBM47_uc003gvd.2_Missense_Mutation_p.I401M|RBM47_uc003gve.2_RNA|RBM47_uc011bys.1_Missense_Mutation_p.I432M NM_001098634 NP_001092104 A0AV96 RBM47_HUMAN RNA binding motif protein 47 isoform a 470 nucleus nucleotide binding|RNA binding breast(3) 3 CCACTGTGTGGATTTTGCCAT 0.413 NaN 0 0 0 0.010729 0 11 18 CLOCK 9575 broad.mit.edu 37 4 56336930 56336930 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:56336930A>G uc003haz.1 - 9 1318 c.392T>C c.(391-393)ATA>ACA p.I131T CLOCK_uc003hba.1_Missense_Mutation_p.I131T NM_004898 NP_004889 O15516 CLOCK_HUMAN clock 131 PAS 1. circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter cytoplasm|transcription factor complex DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(2)|ovary(1) 3 Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107) CACATATATTATGCTTCCATC 0.284 NaN 0 0 0 0.01441 0 52 151 ADAMTS3 9508 broad.mit.edu 37 4 73414511 73414511 + Missense_Mutation SNP G G A rs145300703 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:73414511G>A uc003hgk.1 - 3 225 c.188C>T c.(187-189)GCG>GTG p.A63V NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 63 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTTGTGACTCGCAGAAAGAGT 0.448 NaN 0 0 0 0.014323 0 23 67 CXCL6 6372 broad.mit.edu 37 4 74702788 74702788 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:74702788C>G uc003hhf.2 + 2 412 c.217C>G c.(217-219)CCG>GCG p.P73A IL8_uc011cbh.1_Intron NM_002993 NP_002984 P80162 CXCL6_HUMAN chemokine (C-X-C motif) ligand 6 (granulocyte 73 cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction extracellular space chemokine activity|heparin binding 0 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CCCCGCAGGCCCGCAGTGCTC 0.542 NaN 0 0 0 0.010729 0 12 56 HNRPDL 9987 broad.mit.edu 37 4 83349206 83349206 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:83349206C>T uc003hmr.2 - 3 1274 c.739G>A c.(739-741)GAA>AAA p.E247K ENOPH1_uc003hmv.2_5'Flank|ENOPH1_uc003hmw.2_5'Flank|ENOPH1_uc003hmx.2_5'Flank|HNRPDL_uc003hmq.2_RNA|HNRPDL_uc003hms.2_RNA|HNRPDL_uc003hmt.2_Missense_Mutation_p.E247K NM_031372 NP_112740 O14979 HNRDL_HUMAN heterogeneous nuclear ribonucleoprotein D-like 247 RRM 2. regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent cytoplasm|heterogeneous nuclear ribonucleoprotein complex double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding skin(1) 1 Hepatocellular(203;0.114) TTAATTTGTTCTTCAGAAGTA 0.383 NaN 0 0 0 0.00632 0 27 88 PDHA2 5161 broad.mit.edu 37 4 96761377 96761377 + Missense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:96761377C>A uc003htr.3 + 1 139 c.76C>A c.(76-78)CGT>AGT p.R26S NM_005390 NP_005381 P29803 ODPAT_HUMAN pyruvate dehydrogenase E1 alpha 2 precursor 26 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity central_nervous_system(1) 1 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GGTGGCATCCCGTAACTCCTC 0.522 NaN 1 0 0.000442599 0.006214 0.000450898 10 23 LRIT3 345193 broad.mit.edu 37 4 110788968 110788968 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:110788968C>T uc003hzx.3 + 2 819 c.626C>T c.(625-627)CCA>CTA p.P209L LRIT3_uc003hzw.3_Missense_Mutation_p.P71L NM_198506 NP_940908 Q3SXY7 LRIT3_HUMAN leucine-rich repeat, immunoglobulin-like and 209 Ig-like. integral to membrane 0 OV - Ovarian serous cystadenocarcinoma(123;0.0011) TGTCTGAAACCATCAGTGATG 0.512 NaN 0 0 0 0.017118 0 37 43 SYNPO2 171024 broad.mit.edu 37 4 119952786 119952786 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:119952786G>C uc003icm.3 + 4 3052 c.2856G>C c.(2854-2856)AAG>AAC p.K952N SYNPO2_uc010ina.2_Missense_Mutation_p.K952N|SYNPO2_uc010inb.2_Missense_Mutation_p.K952N|SYNPO2_uc011cgh.1_Intron|SYNPO2_uc010inc.2_Missense_Mutation_p.K880N NM_001128933 NP_001122405 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform b 952 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 AAATGGGCAAGAAAAAGGGAA 0.498 NaN 0 0 0 0.004482 0 8 40 ANXA5 308 broad.mit.edu 37 4 122590871 122590871 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:122590871C>T uc003idu.3 - 11 859 c.789G>A c.(787-789)GGG>GGA p.G263G ANXA5_uc003idv.3_Silent_p.G263G|ANXA5_uc003idw.3_RNA|ANXA5_uc010inm.2_Intron|ANXA5_uc010inn.2_Silent_p.G203G|ANXA5_uc010ino.2_Silent_p.G163G NM_001154 NP_001145 P08758 ANXA5_HUMAN annexin 5 263 Annexin 4. anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity ovary(1) 1 GATCATCTGTCCCAGCTCCCT 0.393 NaN 0 0 0 0.021523 0 26 53 FAT4 79633 broad.mit.edu 37 4 126369781 126369781 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:126369781C>T uc003ifj.3 + 9 7610 c.7610C>T c.(7609-7611)TCT>TTT p.S2537F FAT4_uc011cgp.1_Missense_Mutation_p.S835F|FAT4_uc003ifi.1_Missense_Mutation_p.S15F NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 2537 Extracellular (Potential).|Cadherin 24. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTGACATTTTCTGTGCATGTA 0.438 NaN 0 0 0 0.00499 0 18 45 FAT4 79633 broad.mit.edu 37 4 126411829 126411829 + Nonsense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:126411829G>T uc003ifj.3 + 17 13852 c.13852G>T c.(13852-13854)GAG>TAG p.E4618* FAT4_uc011cgp.1_Nonsense_Mutation_p.E2859*|FAT4_uc003ifi.1_Nonsense_Mutation_p.E2095* NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4618 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GCAGGAGATAGAGCACTATGA 0.478 NaN 1 0 1.37522e-17 0.007413 1.48451e-17 18 37 OTUD4 54726 broad.mit.edu 37 4 146067508 146067508 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:146067508C>T uc003ika.3 - 14 1276 c.1138G>A c.(1138-1140)GAA>AAA p.E380K OTUD4_uc003ijz.3_Missense_Mutation_p.E379K NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 444 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) CTGCGCTCTTCTGGGGAAAGG 0.413 NaN 0 0 0 0.00308 0 7 123 PALLD 23022 broad.mit.edu 37 4 169602510 169602510 + Missense_Mutation SNP A A C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:169602510A>C uc011cjx.1 + 4 1326 c.1115A>C c.(1114-1116)GAA>GCA p.E372A PALLD_uc003iru.2_Missense_Mutation_p.E372A|PALLD_uc003irv.2_5'UTR NM_016081 NP_057165 Q8WX93 PALLD_HUMAN palladin isoform 2 372 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding ovary(1) 1 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) TCTGACAGTGAAAGTTTAGCT 0.358 NaN Pancreatic_Cancer_Familial_Clustering_of 0 0 0 0.014758 0 5 69 ADCY2 108 broad.mit.edu 37 5 7521004 7521004 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:7521004G>T uc003jdz.1 + 3 629 c.562G>T c.(562-564)GTC>TTC p.V188F NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 188 Helical; (Potential). VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285). 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 cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 GGAGCACCTGGTCTGGCAGGT 0.607 NaN 1 0 2.74695e-27 0.01441 3.05634e-27 49 75 SLC45A2 51151 broad.mit.edu 37 5 33964006 33964006 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:33964006G>A uc003jid.2 - 3 770 c.678C>T c.(676-678)CTC>CTT p.L226L SLC45A2_uc003jie.2_Silent_p.L226L|SLC45A2_uc003jif.3_Intron|SLC45A2_uc011coe.1_Intron NM_016180 NP_057264 Q9UMX9 S45A2_HUMAN membrane-associated transporter protein isoform 226 Helical; Name=6; (Potential). melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception integral to membrane|melanosome membrane p.L226L(1) ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 AACACAAAGTGAGCACCAATG 0.502 NaN 0 0 0 0.008871 0 21 107 SNX18 112574 broad.mit.edu 37 5 53839070 53839070 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:53839070G>A uc003jpi.3 + 2 1873 c.1683G>A c.(1681-1683)CAG>CAA p.Q561Q SNX18_uc011cqg.1_3'UTR NM_001102575 NP_001096045 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform a Error:Variant_position_missing_in_Q96RF0_after_alignment cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) TGGAGGTGCAGAAGGCTGACG 0.408 NaN 0 0 0 0.008361 0 29 64 TMEM171 134285 broad.mit.edu 37 5 72419557 72419557 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:72419557C>T uc003kcm.2 + 2 561 c.357C>T c.(355-357)TTC>TTT p.F119F TMEM171_uc003kcn.3_Silent_p.F119F NM_173490 NP_775761 Q8WVE6 TM171_HUMAN transmembrane protein 171 isoform 1 119 Helical; (Potential). integral to membrane 0 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115) GGTTTCTGTTCTTGACAAGCG 0.587 NaN 0 0 0 0.008361 0 28 71 HOMER1 9456 broad.mit.edu 37 5 78671855 78671855 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:78671855C>T uc003kfy.2 - 9 2145 c.1042G>A c.(1042-1044)GCC>ACC p.A348T HOMER1_uc010jab.2_3'UTR|HOMER1_uc010jac.2_Missense_Mutation_p.A218T|HOMER1_uc010jad.2_Missense_Mutation_p.A174T NM_004272 NP_004263 Q86YM7 HOME1_HUMAN homer 1 348 Potential. activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane 0 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) AGTAGCTTGGCCAAGTTATCT 0.363 NaN 0 0 0 0.013537 0 13 49 TRIM36 55521 broad.mit.edu 37 5 114466549 114466549 + Silent SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:114466549A>G uc003kqs.2 - 9 2081 c.1572T>C c.(1570-1572)AAT>AAC p.N524N TRIM36_uc011cwc.1_Silent_p.N512N|TRIM36_uc003kqt.2_Silent_p.N369N NM_018700 NP_061170 Q9NQ86 TRI36_HUMAN tripartite motif-containing 36 isoform 1 524 B30.2/SPRY. acrosomal vesicle|cytoskeleton ligase activity|zinc ion binding ovary(4)|lung(2)|breast(2) 8 all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195) OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06) GGTGTTCATTATTATAGCCAC 0.368 NaN 0 0 0 0.010818 0 31 59 SLC27A6 28965 broad.mit.edu 37 5 128320834 128320834 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:128320834G>C uc003kuy.2 + 3 886 c.490G>C c.(490-492)GGA>CGA p.G164R SLC27A6_uc003kuz.2_Missense_Mutation_p.G164R NM_014031 NP_054750 Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid 164 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding 0 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) AGATTTGCTTGGAACGGTAGA 0.373 NaN 0 0 0 0.008291 0 10 21 H2AFY 9555 broad.mit.edu 37 5 134679035 134679035 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:134679035G>C uc003lam.1 - 8 1078 c.868C>G c.(868-870)CTG>GTG p.L290V uc003laj.1_RNA|H2AFY_uc003lal.1_RNA|H2AFY_uc003lao.1_Missense_Mutation_p.L289V|H2AFY_uc003lan.1_Missense_Mutation_p.L287V|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.L118V|H2AFY_uc003las.1_Missense_Mutation_p.L290V|H2AFY_uc003lat.1_Missense_Mutation_p.L289V NM_138610 NP_613258 O75367 H2AY_HUMAN H2A histone family, member Y isoform 3 290 Macro. chromatin modification|dosage compensation|nucleosome assembly Barr body|nucleosome DNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTCTTTTCCAGAAGTTCTTCA 0.522 NaN 0 0 0 0.00874 0 44 122 LECT2 3950 broad.mit.edu 37 5 135283149 135283149 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:135283149C>G uc003lbe.1 - 4 528 c.327G>C c.(325-327)AAG>AAC p.K109N FBXL21_uc003lbc.2_Intron NM_002302 NP_002293 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 precursor 109 chemotaxis|skeletal system development cytoplasm|extracellular space ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GACCTTTATACTTAATTGGCT 0.299 NaN 0 0 0 0.012213 0 34 45 PCDHB8 56128 broad.mit.edu 37 5 140559901 140559901 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:140559901G>A uc011dai.1 + 1 2472 c.2286G>A c.(2284-2286)ACG>ACA p.T762T PCDHB16_uc003liv.2_5'Flank|PCDHB16_uc010jfw.1_5'Flank NM_019120 NP_061993 Q9UN66 PCDB8_HUMAN protocadherin beta 8 precursor 762 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(4) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCTCAGGGACGAATGAGTTCC 0.517 NaN 0 0 0 0.008361 0 30 59 PDGFRB 5159 broad.mit.edu 37 5 149505034 149505034 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:149505034T>C uc003lro.2 - 12 2250 c.1781A>G c.(1780-1782)GAG>GGG p.E594G PDGFRB_uc010jhd.2_Missense_Mutation_p.E433G NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 594 Cytoplasmic (Potential). aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CCGCGGCAGCTCCCACGTGGA 0.403 NaN T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML 0 0 0 0.003163 0 12 11 SH3PXD2B 285590 broad.mit.edu 37 5 171766782 171766782 + Missense_Mutation SNP C C T rs138949033 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:171766782C>T uc003mbr.2 - 13 1498 c.1327G>A c.(1327-1329)GAG>AAG p.E443K NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 443 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TGGGTCACCTCGTGGGGCAGG 0.647 NaN 0 0 0 0.00499 0 16 18 STC2 8614 broad.mit.edu 37 5 172750298 172750298 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:172750298C>T uc003mco.1 - 3 1740 c.430G>A c.(430-432)GAC>AAC p.D144N STC2_uc003mcn.1_Missense_Mutation_p.D59N NM_003714 NP_003705 O76061 STC2_HUMAN stanniocalcin 2 precursor 144 cell surface receptor linked signaling pathway|cell-cell signaling extracellular region hormone activity skin(2)|ovary(1) 3 Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCGCACAGGTCGTGCTTGAGG 0.622 NaN 0 0 0 0.006122 0 17 24 CDYL 9425 broad.mit.edu 37 6 4937844 4937844 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:4937844G>A uc003mwi.2 + 6 1287 c.1156G>A c.(1156-1158)GAC>AAC p.D386N CDYL_uc003mwj.2_Missense_Mutation_p.D332N|CDYL_uc003mwk.2_Missense_Mutation_p.D97N|CDYL_uc011dhx.1_Missense_Mutation_p.D200N|CDYL_uc011dhy.1_Missense_Mutation_p.D200N NM_001143971 NP_001137443 Q9Y232 CDYL1_HUMAN chromodomain protein, Y chromosome-like isoform 386 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus histone acetyltransferase activity 0 Ovarian(93;0.11) all_hematologic(90;0.0901)|Lung NSC(90;0.244) OV - Ovarian serous cystadenocarcinoma(45;0.182) CGCTGCCGATGACAGCAAGCT 0.448 NaN 0 0 0 0.010729 0 10 26 KDM1B 221656 broad.mit.edu 37 6 18212790 18212790 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:18212790G>A uc003nco.1 + 11 1404 c.1329G>A c.(1327-1329)AAG>AAA p.K443K KDM1B_uc003ncn.1_Silent_p.K414K|KDM1B_uc003ncp.1_5'UTR|KDM1B_uc003ncq.1_5'UTR NM_153042 NP_694587 Q8NB78 KDM1B_HUMAN amine oxidase (flavin containing) domain 1 646 multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding skin(1) 1 TGTCAGAGAAGAAGATGAAGG 0.398 NaN 0 0 0 0.01441 0 113 683 HIST1H1B 3009 broad.mit.edu 37 6 27834978 27834978 + Silent SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:27834978G>C uc003njx.2 - 1 382 c.330C>G c.(328-330)CTC>CTG p.L110L NM_005322 NP_005313 P16401 H15_HUMAN histone cluster 1, H1b 110 H15. nucleosome assembly nucleosome|nucleus DNA binding large_intestine(2)|lung(1) 3 CCTTCTTGTTGAGTTTAAAGG 0.587 NaN 0 0 0 0.01441 0 49 187 TRIM27 5987 broad.mit.edu 37 6 28889686 28889686 + Missense_Mutation SNP C C T rs112674133 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:28889686C>T uc003nlr.2 - 2 858 c.499G>A c.(499-501)GCA>ACA p.A167T TRIM27_uc003nls.2_Missense_Mutation_p.A167T|TRIM27_uc003nlt.1_Missense_Mutation_p.A167T NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 167 Potential. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 TCAGCTCGTGCCTGTTCCCCC 0.468 NaN T RET papillary thyroid 0 0 0 0.005524 0 35 166 MDC1 9656 broad.mit.edu 37 6 30672275 30672275 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:30672275C>T uc003nrg.3 - 10 5125 c.4685G>A c.(4684-4686)AGG>AAG p.R1562K MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.R1169K NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1562 Interaction with the PRKDC complex. cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 GACAGAGGACCTATTTGTCCT 0.592 NaN Other_conserved_DNA_damage_response_genes 0 0 0 0.01441 0 138 102 FOXP4 116113 broad.mit.edu 37 6 41533702 41533702 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:41533702G>C uc003oql.2 + 2 662 c.204G>C c.(202-204)CAG>CAC p.Q68H FOXP4_uc003oqm.2_Missense_Mutation_p.Q68H|FOXP4_uc003oqn.2_Missense_Mutation_p.Q68H NM_001012426 NP_001012426 Q8IVH2 FOXP4_HUMAN forkhead box P4 isoform 1 68 Gln-rich. embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|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 breast(1) 1 Ovarian(28;0.0327)|Colorectal(47;0.196) AGCAGCAACAGGTAGGAACTG 0.617 NaN 0 0 0 0.013537 0 10 31 LGSN 51557 broad.mit.edu 37 6 63990752 63990752 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:63990752T>C uc003peh.2 - 4 738 c.704A>G c.(703-705)CAT>CGT p.H235R LGSN_uc003pei.2_Intron NM_016571 NP_057655 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase 235 glutamine biosynthetic process glutamate-ammonia ligase activity skin(2) 2 L-Glutamic Acid(DB00142) GGGCTGATCATGGTTATTTAA 0.388 NaN 0 0 0 0.01441 0 62 62 COL19A1 1310 broad.mit.edu 37 6 70778319 70778319 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:70778319C>T uc003pfc.1 + 15 1292 c.1175C>T c.(1174-1176)TCC>TTC p.S392F COL19A1_uc010kam.1_Missense_Mutation_p.S288F NM_001858 NP_001849 Q14993 COJA1_HUMAN alpha 1 type XIX collagen precursor 392 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging ovary(2)|breast(2) 4 TCATAGGGTTCCCTGGGGATA 0.408 NaN 0 0 0 0.014323 0 20 143 CASP8AP2 9994 broad.mit.edu 37 6 90572752 90572752 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:90572752A>G uc003pnr.2 + 7 1520 c.1324A>G c.(1324-1326)ACT>GCT p.T442A CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.T442A|CASP8AP2_uc011dzz.1_Missense_Mutation_p.T442A NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 442 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) AAACAGTAGAACTCACAAAAA 0.368 NaN 0 0 0 0.01441 0 95 77 CASP8AP2 9994 broad.mit.edu 37 6 90581033 90581033 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:90581033G>C uc003pnr.2 + 9 6014 c.5818G>C c.(5818-5820)GAG>CAG p.E1940Q CASP8AP2_uc003pns.2_Missense_Mutation_p.E148Q|CASP8AP2_uc003pnt.2_Missense_Mutation_p.E1940Q|CASP8AP2_uc011dzz.1_Missense_Mutation_p.E1940Q NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 1940 NCOA2-binding. cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) AATTTTATTGGAGTGTCAGAA 0.338 NaN 0 0 0 0.010771 0 38 39 STX11 8676 broad.mit.edu 37 6 144508325 144508325 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:144508325C>T uc003qks.3 + 2 753 c.561C>T c.(559-561)GAC>GAT p.D187D NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 187 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GTAAGTGGGACGTGTTTTCCG 0.637 NaN Familial_Hemophagocytic_Lymphohistiocytosis 0 0 0 0.004007 0 16 49 UTRN 7402 broad.mit.edu 37 6 144820449 144820449 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr6:144820449G>A uc003qkt.2 + 33 4742 c.4650G>A c.(4648-4650)AAG>AAA p.K1550K NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1550 Interaction with SYNM.|Spectrin 11. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGAAAATGAAGAAAGAGGCTG 0.478 NaN 0 0 0 0.020292 0 14 60 ACTB 60 broad.mit.edu 37 7 5567464 5567464 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:5567464G>A uc003sos.3 - 5 1079 c.1043C>T c.(1042-1044)TCG>TTG p.S348L ACTB_uc003sor.3_Missense_Mutation_p.S226L|ACTB_uc003sot.3_Missense_Mutation_p.S348L|ACTB_uc003soq.3_Missense_Mutation_p.S226L|ACTB_uc010ksy.2_Missense_Mutation_p.S226L NM_001101 NP_001092 P60709 ACTB_HUMAN beta actin 348 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton 0 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GGTGGACAGCGAGGCCAGGAT 0.587 NaN 0 0 0 0.008871 0 17 104 ZNF716 441234 broad.mit.edu 37 7 57528875 57528875 + Silent SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:57528875T>C uc011kdi.1 + 4 820 c.708T>C c.(706-708)ACT>ACC p.T236T NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 GAATTCATACTGGAGAGAAAC 0.378 NaN 0 0 0 0.014758 0 5 28 SEMA3D 223117 broad.mit.edu 37 7 84671572 84671572 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:84671572T>C uc003uic.2 - 8 931 c.891A>G c.(889-891)ATA>ATG p.I297M SEMA3D_uc010led.2_Missense_Mutation_p.I297M|SEMA3D_uc003uib.2_5'Flank NM_152754 NP_689967 O95025 SEM3D_HUMAN semaphorin 3D precursor 297 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity ovary(3)|large_intestine(2) 5 TCCACTTGTTTATCAGGCTGC 0.378 NaN 0 0 0 0.01441 0 193 306 C7orf43 55262 broad.mit.edu 37 7 99753312 99753312 + Silent SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:99753312C>G uc003utr.2 - 9 1557 c.1377G>C c.(1375-1377)CTG>CTC p.L459L C7orf43_uc010lgo.2_Silent_p.L85L|C7orf43_uc010lgp.2_Silent_p.L81L|C7orf43_uc011kjj.1_Silent_p.L227L|C7orf43_uc003uts.2_Silent_p.L190L NM_018275 NP_060745 Q8WVR3 CG043_HUMAN hypothetical protein LOC55262 459 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCCCCGTCCTCAGAGCCTGGA 0.637 NaN 0 0 0 0.01441 0 77 116 C7orf51 222950 broad.mit.edu 37 7 100087130 100087130 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:100087130G>T uc003uvd.1 + 4 1945 c.1786G>T c.(1786-1788)GAT>TAT p.D596Y C7orf51_uc003uve.1_Missense_Mutation_p.D378Y NM_173564 NP_775835 Q6ZVC0 CG051_HUMAN hypothetical protein FLJ37538 596 skin(1) 1 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCAAGGGACCGATGGGGGTGC 0.637 NaN 1 0 9.8876e-21 0.021022 1.07805e-20 34 71 C7orf58 79974 broad.mit.edu 37 7 120770316 120770316 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:120770316G>A uc003vjq.3 + 12 1992 c.1545G>A c.(1543-1545)ATG>ATA p.M515I C7orf58_uc003vjr.1_Missense_Mutation_p.M515I|C7orf58_uc003vjs.3_Missense_Mutation_p.M515I|C7orf58_uc003vjt.3_Missense_Mutation_p.M295I|C7orf58_uc010lkk.1_Missense_Mutation_p.M295I NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 515 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) TTCAGTTCATGAATAAAAAGA 0.358 NaN 0 0 0 0.01441 0 48 74 LRRC4 64101 broad.mit.edu 37 7 127670603 127670603 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:127670603G>A uc003vmk.2 - 2 228 c.91C>T c.(91-93)CTG>TTG p.L31L SND1_uc003vmi.2_Intron|SND1_uc010lle.2_Intron NM_022143 NP_071426 Q9HBW1 LRRC4_HUMAN leucine rich repeat containing 4 precursor 31 cell junction|integral to membrane|postsynaptic membrane large_intestine(1)|breast(1)|central_nervous_system(1)|pancreas(1) 4 Lung(243;0.124) GCTGCACACAGAATCCACACT 0.622 NaN 0 0 0 0.01441 0 59 79 FAM71F1 84691 broad.mit.edu 37 7 128355645 128355645 + Silent SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:128355645G>T uc003vno.1 + 1 203 c.150G>T c.(148-150)GCG>GCT p.A50A FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_RNA|FAM71F1_uc003vnp.1_Silent_p.A50A NM_032599 NP_115988 Q96KD3 F71F1_HUMAN testes development-related NYD-SP18 50 skin(1) 1 ACCCTGGAGCGGGCCTAGGTG 0.537 NaN 1 0 2.44813e-32 0.01441 2.75204e-32 59 85 INSIG1 3638 broad.mit.edu 37 7 155093959 155093959 + Splice_Site SNP A A C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:155093959A>C uc003wly.2 + 4 749 c.538_splice c.e4-2 p.K180_splice INSIG1_uc011kvu.1_Splice_Site_p.K28_splice|INSIG1_uc003wlz.2_Intron NM_005542 NP_005533 O15503 INSI1_HUMAN insulin induced gene 1 isoform 1 cell proliferation|ER-nuclear sterol response pathway endoplasmic reticulum membrane|integral to membrane protein binding 0 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTATATCACCAGAAATTGGAT 0.378 NaN 0 0 0 0.01441 0 58 87 PNOC 5368 broad.mit.edu 37 8 28196662 28196662 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:28196662G>C uc010lva.2 + 3 440 c.232G>C c.(232-234)GAG>CAG p.E78Q PNOC_uc003xgp.2_Missense_Mutation_p.E78Q|PNOC_uc011lau.1_Missense_Mutation_p.E14Q NM_006228 NP_006219 Q13519 PNOC_HUMAN prepronociceptin precursor 78 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1) 1 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) TGCCGCCCCAGAGCATGTGGC 0.632 NaN 0 0 0 0.016723 0 11 5 TEX15 56154 broad.mit.edu 37 8 30702296 30702296 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:30702296G>T uc003xil.2 - 1 4238 c.4238C>A c.(4237-4239)GCA>GAA p.A1413E NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN testis expressed 15 1413 ovary(3)|upper_aerodigestive_tract(2)|skin(2) 7 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) AGTTCCTGATGCTACATCCAA 0.363 NaN 1 0 1.06522e-23 0.013114 1.17716e-23 42 43 UNC5D 137970 broad.mit.edu 37 8 35584024 35584024 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:35584024G>T uc003xjr.1 + 10 1986 c.1658G>T c.(1657-1659)GGG>GTG p.G553V UNC5D_uc003xjs.1_Missense_Mutation_p.G548V|UNC5D_uc003xju.1_Missense_Mutation_p.G129V|UNC5D_uc003xjt.1_Missense_Mutation_p.G311V NM_080872 NP_543148 Q6UXZ4 UNC5D_HUMAN unc-5 homolog D precursor 553 ZU5.|Cytoplasmic (Potential). apoptosis|axon guidance integral to membrane receptor activity upper_aerodigestive_tract(2)|ovary(2)|pancreas(1)|skin(1) 6 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) CATTTAGGGGGGCGCTTAGTA 0.413 NaN 1 0 6.4771e-29 0.010771 7.23128e-29 41 42 KCNU1 157855 broad.mit.edu 37 8 36662755 36662755 + Silent SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:36662755T>C uc010lvw.2 + 4 507 c.420T>C c.(418-420)CCT>CCC p.P140P KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 140 Helical; Name=Segment S2; (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) AAACCATTCCTATTGATTTGG 0.363 NaN 0 0 0 0.00308 0 7 5 ADAM2 2515 broad.mit.edu 37 8 39607251 39607251 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:39607251G>C uc003xnj.2 - 17 1885 c.1810C>G c.(1810-1812)CAA>GAA p.Q604E ADAM2_uc003xnk.2_Missense_Mutation_p.Q585E|ADAM2_uc011lck.1_Missense_Mutation_p.Q541E|ADAM2_uc003xnl.2_Missense_Mutation_p.Q448E NM_001464 NP_001455 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 proprotein 604 Extracellular (Potential).|Cys-rich. cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) ACACATCTTTGATTCCTGCAA 0.343 NaN 0 0 0 0.007835 0 38 94 CHD7 55636 broad.mit.edu 37 8 61653990 61653990 + Translation_Start_Site SNP A A T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 A T A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:61653990A>T uc003xue.2 + 2 476 c.-1A>T c.(-3-1)GAAGA>GATGA NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TGTTGGAAGAAGATGGCAGAT 0.478 NaN 0 0 0 0.004672 0 3 12 CHD7 55636 broad.mit.edu 37 8 61765060 61765060 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:61765060G>C uc003xue.2 + 30 6375 c.5898G>C c.(5896-5898)TGG>TGC p.W1966C NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1966 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity ovary(4)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|pancreas(1) 9 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTAACAGGTGGACAAGAAGAG 0.383 NaN 0 0 0 0.008291 0 11 33 TRHR 7201 broad.mit.edu 37 8 110100398 110100398 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:110100398C>T uc003ymz.3 + 1 673 c.657C>T c.(655-657)TTC>TTT p.F219F NM_003301 NP_003292 P34981 TRFR_HUMAN thyrotropin-releasing hormone receptor 219 Cytoplasmic (Potential). integral to plasma membrane thyrotropin-releasing hormone receptor activity skin(2)|lung(1) 3 OV - Ovarian serous cystadenocarcinoma(57;2.3e-11) GAATCCTTTTCTTAAATCCCA 0.358 NaN 0 0 0 0.019004 0 34 119 RAD21 5885 broad.mit.edu 37 8 117859890 117859890 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:117859890A>G uc003yod.2 - 14 2033 c.1745T>C c.(1744-1746)CTT>CCT p.L582P NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 582 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) ACATAACTCAAGCAAACTGAT 0.378 NaN 0 0 0 0.014323 0 23 101 RAD21 5885 broad.mit.edu 37 8 117870623 117870623 + Missense_Mutation SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:117870623C>A uc003yod.2 - 5 737 c.449G>T c.(448-450)GGG>GTG p.G150V NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 150 apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm protein binding lung(1)|skin(1) 2 all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172) ACTGATGTTCCCAACTTCTTC 0.318 NaN 1 0 3.01185e-09 0.021523 3.147e-09 24 162 EXT1 2131 broad.mit.edu 37 8 119122781 119122781 + Nonsense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:119122781G>A uc003yok.1 - 1 1278 c.505C>T c.(505-507)CAG>TAG p.Q169* NM_000127 NP_000118 Q16394 EXT1_HUMAN exostosin 1 169 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity ovary(2)|lung(2) 4 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGCACATACTGAGGTGACAAC 0.483 NaN Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses|Langer-Giedion_syndrome 0 0 0 0.01441 0 228 202 ZHX1 11244 broad.mit.edu 37 8 124267128 124267128 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:124267128C>T uc003yqe.2 - 3 1489 c.1059G>A c.(1057-1059)AGG>AGA p.R353R C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Silent_p.R353R|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Silent_p.R353R NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 353 Required for dimerization.|Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) TGAATTGTTTCCTTCTTGCCT 0.398 NaN 0 0 0 0.01441 0 284 240 ATAD2 29028 broad.mit.edu 37 8 124371525 124371525 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:124371525C>G uc003yqh.3 - 11 1426 c.1318G>C c.(1318-1320)GAG>CAG p.E440Q ATAD2_uc011lii.1_Missense_Mutation_p.E231Q|ATAD2_uc003yqi.3_RNA|ATAD2_uc003yqj.2_Missense_Mutation_p.E440Q NM_014109 NP_054828 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 440 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity ovary(2) 2 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) ACCACCATCTCTTTTAGAGCT 0.328 NaN 0 0 0 0.01441 0 81 333 KLHL38 340359 broad.mit.edu 37 8 124664012 124664012 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:124664012G>C uc003yqs.1 - 1 1179 c.1155C>G c.(1153-1155)ATC>ATG p.I385M NM_001081675 NP_001075144 Q2WGJ6 KLH38_HUMAN kelch-like 38 385 Kelch 3. 0 CGATGGAGAAGATGAAGTTCT 0.557 NaN 0 0 0 0.009535 0 30 130 KIAA0196 9897 broad.mit.edu 37 8 126061284 126061284 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:126061284G>A uc003yrt.2 - 19 2672 c.2343C>T c.(2341-2343)AAC>AAT p.N781N KIAA0196_uc011lir.1_Silent_p.N633N|KIAA0196_uc003yru.1_Silent_p.N355N NM_014846 NP_055661 Q12768 STRUM_HUMAN strumpellin 781 cell death WASH complex ovary(2) 2 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTTGCTCCACGTTGTAATTTA 0.323 NaN 0 0 0 0.007413 0 19 94 KHDRBS3 10656 broad.mit.edu 37 8 136594189 136594189 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:136594189G>T uc003yuv.2 + 6 1074 c.680G>T c.(679-681)GGA>GTA p.G227V KHDRBS3_uc003yuw.2_Missense_Mutation_p.G227V|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 227 Interaction with SIAH1. Missing: Complete loss of SIAH1-mediated degradation. 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) ACTCCCAGAGGAGTCCTGTCC 0.592 NaN 1 0 4.22769e-11 0.00632 4.47477e-11 29 101 KHDRBS3 10656 broad.mit.edu 37 8 136594225 136594225 + Missense_Mutation SNP G G T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:136594225G>T uc003yuv.2 + 6 1110 c.716G>T c.(715-717)AGA>ATA p.R239I KHDRBS3_uc003yuw.2_Missense_Mutation_p.R239I|KHDRBS3_uc010mek.2_RNA NM_006558 NP_006549 O75525 KHDR3_HUMAN KH domain containing, RNA binding, signal 239 Interaction with SIAH1. Missing: Complete loss of SIAH1-mediated degradation. 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) AGTCGGGGAAGAGGACTTCTC 0.587 NaN 1 0 4.7796e-09 0.004656 4.97812e-09 27 97 SCRIB 23513 broad.mit.edu 37 8 144895029 144895029 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:144895029G>A uc003yzp.1 - 8 752 c.745C>T c.(745-747)CTG>TTG p.L249L SCRIB_uc003yzo.1_Silent_p.L249L NM_015356 NP_056171 Q14160 SCRIB_HUMAN scribble isoform b 249 LRR 10.|Sufficient for targeting to adherens junction and to inhibit cell proliferation. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding urinary_tract(1)|ovary(1)|kidney(1)|central_nervous_system(1)|pancreas(1) 5 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) TGGGACAGCAGCAGGTCAGTG 0.701 NaN 0 0 0 0.009096 0 3 18 ADCK5 203054 broad.mit.edu 37 8 145608287 145608287 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:145608287C>G uc003zch.2 + 3 176 c.122C>G c.(121-123)TCC>TGC p.S41C ADCK5_uc003zcg.2_RNA NM_174922 NP_777582 Q3MIX3 ADCK5_HUMAN aarF domain containing kinase 5 41 integral to membrane protein serine/threonine kinase activity stomach(1) 1 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-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;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CTCAGGTTCTCCAGCCCCACA 0.672 NaN 0 0 0 0.009096 0 2 2 GLDC 2731 broad.mit.edu 37 9 6589258 6589258 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:6589258C>G uc003zkc.2 - 12 1710 c.1517G>C c.(1516-1518)AGA>ACA p.R506T NM_000170 NP_000161 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 506 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding ovary(2) 2 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGGAATACCTCTGCACTCCTC 0.517 NaN 0 0 0 0.007835 0 40 40 PTPRD 5789 broad.mit.edu 37 9 8518200 8518200 + Missense_Mutation SNP A A T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:8518200A>T uc003zkk.2 - 20 1902 c.1191T>A c.(1189-1191)AAT>AAA p.N397K PTPRD_uc003zkp.2_Missense_Mutation_p.N397K|PTPRD_uc003zkq.2_Missense_Mutation_p.N397K|PTPRD_uc003zkr.2_Missense_Mutation_p.N391K|PTPRD_uc003zks.2_Missense_Mutation_p.N387K|PTPRD_uc003zkl.2_Missense_Mutation_p.N397K|PTPRD_uc003zkm.2_Missense_Mutation_p.N384K|PTPRD_uc003zkn.2_Missense_Mutation_p.N397K|PTPRD_uc003zko.2_Missense_Mutation_p.N394K NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 397 Fibronectin type-III 1.|Extracellular (Potential). transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GCCCAATGTTATTGACAGCAA 0.522 NaN TSP Lung(15;0.13) 0 0 0 0.01441 0 57 186 KLHL9 55958 broad.mit.edu 37 9 21334596 21334596 + Missense_Mutation SNP T T C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:21334596T>C uc003zoy.2 - 1 834 c.263A>G c.(262-264)CAA>CGA p.Q88R KLHL9_uc003zow.2_Intron|KLHL9_uc003zox.2_RNA NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN kelch-like 9 88 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody ovary(3)|skin(1) 4 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) CATCAAATCTTGTTCTTTCAT 0.378 NaN 0 0 0 0.01441 0 72 266 IFT74 80173 broad.mit.edu 37 9 26984496 26984496 + Splice_Site SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:26984496G>A uc010mja.2 + 6 532 c.405_splice c.e6-1 p.R135_splice IFT74_uc010mjb.2_Splice_Site_p.R135_splice|IFT74_uc003zqf.3_Splice_Site_p.R135_splice|IFT74_uc003zqg.3_Splice_Site_p.R135_splice NM_001099223 NP_001092693 Q96LB3 IFT74_HUMAN coiled-coil domain containing 2 isoform a cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum skin(1) 1 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TATGCTTTCAGGGCTGAGACT 0.269 NaN 0 0 0 0.01441 0 70 143 KIAA1161 57462 broad.mit.edu 37 9 34372097 34372097 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:34372097C>T uc003zue.3 - 3 1012 c.845G>A c.(844-846)CGA>CAA p.R282Q NM_020702 NP_065753 Q6NSJ0 K1161_HUMAN hypothetical protein LOC57462 282 Extracellular (Potential). carbohydrate metabolic process integral to membrane hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|breast(1)|central_nervous_system(1) 3 LUSC - Lung squamous cell carcinoma(29;0.0107) GBM - Glioblastoma multiforme(74;0.126) CACGCACACTCGGTAGCTCAG 0.662 NaN 0 0 0 0.00308 0 7 35 C9orf131 138724 broad.mit.edu 37 9 35044993 35044993 + Silent SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:35044993C>G uc003zvw.2 + 2 2396 c.2367C>G c.(2365-2367)CTC>CTG p.L789L C9orf131_uc003zvu.2_Silent_p.L741L|C9orf131_uc003zvv.2_Silent_p.L716L|C9orf131_uc003zvx.2_Silent_p.L754L NM_203299 NP_976044 Q5VYM1 CI131_HUMAN hypothetical protein LOC138724 isoform A 789 0 all_epithelial(49;0.22) LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309) AGCTGAAACTCAGGCTGAAGA 0.567 NaN 0 0 0 0.01441 0 103 173 TLN1 7094 broad.mit.edu 37 9 35697854 35697854 + Silent SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:35697854C>T uc003zxt.2 - 57 7914 c.7560G>A c.(7558-7560)AAG>AAA p.K2520K NM_006289 NP_006280 Q9Y490 TLN1_HUMAN talin 1 2520 I/LWEQ. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding lung(7)|breast(3)|ovary(2)|central_nervous_system(1) 13 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GGGCCAGTTTCTTCCGCGCCT 0.532 NaN OREG0019174 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.016723 0 14 64 TJP2 9414 broad.mit.edu 37 9 71844146 71844146 + Silent SNP T T G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:71844146T>G uc004ahe.2 + 10 1700 c.1500T>G c.(1498-1500)CCT>CCG p.P500P TJP2_uc011lrs.1_Silent_p.P477P|TJP2_uc011lrt.1_Silent_p.P477P|TJP2_uc004ahd.2_Silent_p.P500P|TJP2_uc004ahf.2_Silent_p.P500P|TJP2_uc011lru.1_Silent_p.P504P|TJP2_uc011lrv.1_Silent_p.P522P NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 500 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 GTCCTAGTCCTGAAGATGAAG 0.423 NaN 0 0 0 0.01441 0 66 55 TRPM6 140803 broad.mit.edu 37 9 77377272 77377272 + Missense_Mutation SNP G G A rs144291419 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:77377272G>A uc004ajl.1 - 26 4553 c.4315C>T c.(4315-4317)CCT>TCT p.P1439S TRPM6_uc004ajk.1_Missense_Mutation_p.P1434S|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.P395S NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1439 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 TGGGAAAGAGGGGAGCTCATT 0.463 NaN 0 0 0 0.004656 0 25 69 PCSK5 5125 broad.mit.edu 37 9 78784732 78784732 + Nonsense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:78784732C>T uc004ajz.2 + 13 2270 c.1732C>T c.(1732-1734)CAG>TAG p.Q578* PCSK5_uc004ajy.2_Nonsense_Mutation_p.Q578*|PCSK5_uc004aka.2_RNA NM_006200 NP_006191 Q92824 PCSK5_HUMAN proprotein convertase subtilisin/kexin type 5 578 Homo B/P. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release extracellular space|Golgi lumen|stored secretory granule peptide binding|serine-type endopeptidase activity ovary(2)|skin(1) 3 TACTCCCTCTCAGCTAAGGAA 0.428 NaN 0 0 0 0.01441 0 51 89 BICD2 23299 broad.mit.edu 37 9 95477535 95477535 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:95477535G>A uc004aso.1 - 7 2526 c.2469C>T c.(2467-2469)AGC>AGT p.S823S BICD2_uc004asp.1_Silent_p.S823S NM_015250 NP_056065 Q8TD16 BICD2_HUMAN bicaudal D homolog 2 isoform 2 823 microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane Rab GTPase binding skin(1) 1 TGTGACTTACGCTCGGTGTGG 0.652 NaN 0 0 0 0.00308 0 5 4 PTCH1 5727 broad.mit.edu 37 9 98221997 98221997 + Silent SNP C C A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:98221997C>A uc004avk.3 - 17 2960 c.2772G>T c.(2770-2772)ACG>ACT p.T924T PTCH1_uc010mro.2_Silent_p.T773T|PTCH1_uc010mrp.2_Silent_p.T773T|PTCH1_uc010mrq.2_Silent_p.T773T|PTCH1_uc004avl.3_Silent_p.T773T|PTCH1_uc010mrr.2_Silent_p.T858T|PTCH1_uc004avm.3_Silent_p.T923T NM_000264 NP_000255 Q13635 PTC1_HUMAN patched isoform L 924 Extracellular (Potential). embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway integral to plasma membrane hedgehog receptor activity skin(242)|central_nervous_system(72)|bone(33)|upper_aerodigestive_tract(11)|lung(6)|large_intestine(4)|breast(4)|oesophagus(3)|ovary(3)|vulva(1) 379 Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136) TGACCCAAGCCGTCAGGTAGA 0.552 NaN Basal_Cell_Nevus_syndrome 1 0 3.5997e-14 0.014323 3.83497e-14 24 29 ZNF322B 387328 broad.mit.edu 37 9 99960733 99960733 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:99960733G>A uc004axd.1 - 1 1178 c.1061C>T c.(1060-1062)ACT>ATT p.T354I uc004axb.2_5'Flank|ZNF322B_uc004axc.1_5'Flank|uc010msl.1_Intron NM_199005 NP_945356 zinc finger protein 322B 0 Acute lymphoblastic leukemia(62;0.158) ATCACATACAGTGTATTTATA 0.433 NaN 0 0 0 0.01441 0 61 128 SMC2 10592 broad.mit.edu 37 9 106894304 106894304 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:106894304G>C uc004bbv.2 + 22 3294 c.3006G>C c.(3004-3006)ATG>ATC p.M1002I SMC2_uc004bbw.2_Missense_Mutation_p.M1002I|SMC2_uc011lvl.1_Missense_Mutation_p.M1002I|SMC2_uc004bbx.2_Missense_Mutation_p.M1002I|SMC2_uc004bby.2_RNA NM_001042551 NP_001036016 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 1002 Potential. cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity ovary(4)|skin(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|breast(1) 9 ATGACTTGATGAAGAAGAAGA 0.303 NaN 0 0 0 0.021523 0 26 24 CRAT 1384 broad.mit.edu 37 9 131864786 131864786 + Missense_Mutation SNP G G C TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr9:131864786G>C uc004bxh.2 - 5 805 c.523C>G c.(523-525)CAG>GAG p.Q175E CRAT_uc004bxg.2_Missense_Mutation_p.Q154E|CRAT_uc004bxk.3_Missense_Mutation_p.Q154E NM_000755 NP_000746 P43155 CACP_HUMAN carnitine acetyltransferase precursor 175 energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix carnitine O-acetyltransferase activity central_nervous_system(1) 1 UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) L-Carnitine(DB00583) GACAAGATCTGATAGTACTGG 0.597 NaN 0 0 0 0.01441 0 89 170 DMD 1756 broad.mit.edu 37 X 32662325 32662325 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:32662325C>T uc004dda.1 - 11 1499 c.1255G>A c.(1255-1257)GAA>AAA p.E419K DMD_uc004dcz.2_Missense_Mutation_p.E296K|DMD_uc004dcy.1_Missense_Mutation_p.E415K|DMD_uc004ddb.1_Missense_Mutation_p.E411K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.E411K|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|MIR548F5_hsa-mir-548f-5|MI0006378_5'Flank NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 419 Spectrin 1. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCTTGTACTTCAGTTTCTTCA 0.388 NaN 0 0 0 0.01441 0 134 24 FAM47A 158724 broad.mit.edu 37 X 34150089 34150089 + Silent SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:34150089G>A uc004ddg.2 - 1 340 c.307C>T c.(307-309)CTA>TTA p.L103L NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 103 ovary(4)|central_nervous_system(1) 5 TTGGAAAATAGGGCCGCTTTC 0.542 NaN 0 0 0 0.01441 0 94 14 CXorf22 170063 broad.mit.edu 37 X 35959432 35959432 + Nonsense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:35959432C>G uc004ddj.2 + 3 493 c.434C>G c.(433-435)TCA>TGA p.S145* CXorf22_uc010ngv.2_RNA NM_152632 NP_689845 Q6ZTR5 CX022_HUMAN hypothetical protein LOC170063 145 large_intestine(1)|lung(1)|ovary(1) 3 GAAATTGAATCAGTAGTTAAT 0.358 NaN 0 0 0 0.009535 0 29 52 PLP2 5355 broad.mit.edu 37 X 49029745 49029745 + Missense_Mutation SNP G G A TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:49029745G>A uc004dmx.2 + 3 335 c.260G>A c.(259-261)CGA>CAA p.R87Q NM_002668 NP_002659 Q04941 PLP2_HUMAN proteolipid protein 2 (colonic 87 Helical; (Potential).|MARVEL. chemotaxis|cytokine-mediated signaling pathway endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane chemokine binding|ion transmembrane transporter activity 0 GATTTCTTCCGAACCCTCATA 0.532 NaN 0 0 0 0.015359 0 31 47 CCNB3 85417 broad.mit.edu 37 X 50031856 50031856 + Missense_Mutation SNP A A G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:50031856A>G uc004dox.3 + 4 471 c.173A>G c.(172-174)AAA>AGA p.K58R CCNB3_uc004doy.2_Missense_Mutation_p.K58R|CCNB3_uc004doz.2_Missense_Mutation_p.K58R|CCNB3_uc010njq.2_5'UTR NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 58 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) GGAGCACTCAAAAAGAGATCA 0.413 NaN 0 0 0 0.006122 0 19 3 KIAA2022 340533 broad.mit.edu 37 X 73962682 73962682 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:73962682C>G uc004eby.2 - 3 2327 c.1710G>C c.(1708-1710)TTG>TTC p.L570F NM_001008537 NP_001008537 Q5QGS0 K2022_HUMAN hypothetical protein LOC340533 570 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 GATTCTCACTCAAATTCACTG 0.418 NaN 0 0 0 0.007835 0 39 56 STAG2 10735 broad.mit.edu 37 X 123190029 123190029 + Silent SNP G G T rs142571900 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:123190029G>T uc004etz.3 + 13 1587 c.1248G>T c.(1246-1248)CTG>CTT p.L416L STAG2_uc004eua.2_Silent_p.L416L|STAG2_uc004eub.2_Silent_p.L416L|STAG2_uc004euc.2_Silent_p.L416L|STAG2_uc004eud.2_Silent_p.L416L|STAG2_uc004eue.2_Silent_p.L416L NM_006603 NP_006594 Q8N3U4 STAG2_HUMAN stromal antigen 2 isoform b 416 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding ovary(4)|skin(1) 5 TCTATCATCTGGTTTATTCAG 0.368 NaN 1 0 3.43241e-23 0.009718 3.78029e-23 37 53 DCAF12L1 139170 broad.mit.edu 37 X 125686323 125686323 + Missense_Mutation SNP C C T TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:125686323C>T uc004eul.2 - 1 520 c.269G>A c.(268-270)CGC>CAC p.R90H NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 90 skin(3)|ovary(1) 4 CTCCAGTTGGCGCTCCGTCAG 0.662 NaN 0 0 0 0.00499 0 16 24 MCF2 4168 broad.mit.edu 37 X 138672035 138672035 + Missense_Mutation SNP C C G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chrX:138672035C>G uc004fau.2 - 20 2623 c.2329G>C c.(2329-2331)GAA>CAA p.E777Q MCF2_uc004fav.2_Missense_Mutation_p.E793Q|MCF2_uc011mwl.1_Missense_Mutation_p.E754Q|MCF2_uc010nsh.1_Missense_Mutation_p.E777Q|MCF2_uc011mwm.1_Missense_Mutation_p.E738Q|MCF2_uc011mwn.1_Missense_Mutation_p.E922Q|MCF2_uc004faw.2_Missense_Mutation_p.E837Q|MCF2_uc011mwo.1_Missense_Mutation_p.E853Q NM_005369 NP_005360 P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 777 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity lung(1)|pleura(1) 2 Acute lymphoblastic leukemia(192;0.000127) TACCAGATTTCAAACTTGCGG 0.318 NaN 0 0 0 0.021523 0 26 50 TCHHL1 126637 broad.mit.edu 37 1 152059043 152059044 + Frame_Shift_Ins INS - - G TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:152059043_152059044insG uc001ezo.1 - 3 1179_1180 c.1114_1115insC c.(1114-1116)CTGfs p.L372fs NM_001008536 NP_001008536 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 372 calcium ion binding ovary(1)|skin(1) 2 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) TTGGACTGGCAGGTCCTTTGTT 0.465 NaN NaN NaN NaN NaN NaN 7 949 --- --- HAX1 10456 broad.mit.edu 37 1 154245864 154245866 + In_Frame_Del DEL GAA GAA - rs11556342 TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr1:154245864_154245866delGAA uc001fes.2 + 2 267_269 c.106_108delGAA c.(106-108)GAAdel p.E40del HAX1_uc001fet.2_Intron|HAX1_uc010peo.1_In_Frame_Del_p.E40del|HAX1_uc009wou.2_5'UTR|HAX1_uc009wov.2_In_Frame_Del_p.E14del NM_006118 NP_006109 O00165 HAX1_HUMAN HCLS1 associated protein X-1 isoform a 40 Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding 0 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TGATGATGAGGAAGAAGAAGAAG 0.522 NaN Kostmann_syndrome NaN NaN NaN NaN NaN 9 176 --- --- NXF1 10482 broad.mit.edu 37 11 62560155 62560157 + In_Frame_Del DEL GTT GTT - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:62560155_62560157delGTT uc001nvf.1 - 20 1913_1915 c.1777_1779delAAC c.(1777-1779)AACdel p.N593del TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_3'UTR NM_006362 NP_006353 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 isoform 1 593 TAP-C. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding skin(3) 3 TGTAGTCCCAGTTGTTGTCCTGA 0.384 NaN NaN NaN NaN NaN NaN 22 67 --- --- NCAM1 4684 broad.mit.edu 37 11 113102975 113102975 + Frame_Shift_Del DEL C C - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr11:113102975delC uc009yyq.1 + 12 1742 c.1048delC c.(1048-1050)CCCfs p.P350fs NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 442 Ig-like C2-type 5.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) ATTTGCCTATCCCAGTGCCAC 0.517 NaN NaN NaN NaN NaN NaN 17 36 --- --- MLL2 8085 broad.mit.edu 37 12 49427929 49427933 + Frame_Shift_Del DEL CGGCC CGGCC - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 CGGCC - CGGCC CGGCC Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr12:49427929_49427933delCGGCC uc001rta.3 - 38 10657_10661 c.10657_10661delGGCCG c.(10657-10662)GGCCGTfs p.G3553fs NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 3553_3554 Gln-rich. chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TGGGAACTCACGGCCAGCTTTTTTG 0.541 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) NaN NaN NaN NaN NaN 38 60 --- --- FANCM 57697 broad.mit.edu 37 14 45623913 45623913 + Frame_Shift_Del DEL A A - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr14:45623913delA uc001wwd.3 + 7 1296 c.1197delA c.(1195-1197)TCAfs p.S399fs FANCM_uc001wwc.2_Frame_Shift_Del_p.S399fs|FANCM_uc010anf.2_Frame_Shift_Del_p.S373fs|FANCM_uc001wwe.3_Frame_Shift_Del_p.S4fs NM_020937 NP_065988 Q8IYD8 FANCM_HUMAN Fanconi anemia, complementation group M 399 DNA repair Fanconi anaemia nuclear complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding ovary(3)|lung(2)|breast(2) 7 TGACACGGTCAAAAAATGAAC 0.269 NaN Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia NaN NaN NaN NaN NaN 34 39 --- --- UFSP2 55325 broad.mit.edu 37 4 186329155 186329156 + Frame_Shift_Ins INS - - TG TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr4:186329155_186329156insTG uc003ixo.2 - 9 1172_1173 c.1055_1056insCA c.(1054-1056)GGAfs p.G352fs UFSP2_uc003ixn.2_Frame_Shift_Ins_p.G227fs|UFSP2_uc003ixq.2_Frame_Shift_Ins_p.G242fs|UFSP2_uc003ixp.2_RNA NM_018359 NP_060829 Q9NUQ7 UFSP2_HUMAN UFM1-specific peptidase 2 352 endoplasmic reticulum|nucleus small conjugating protein-specific protease activity 0 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166) CCTCAATAGATCCAATCCATTG 0.391 NaN NaN NaN NaN NaN NaN 23 45 --- --- UBLCP1 134510 broad.mit.edu 37 5 158702181 158702183 + In_Frame_Del DEL ATT ATT - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr5:158702181_158702183delATT uc003lxq.2 + 8 937_939 c.611_613delATT c.(610-615)AATTAT>AAT p.Y205del NM_145049 NP_659486 Q8WVY7 UBCP1_HUMAN ubiquitin-like domain containing CTD phosphatase 205 FCP1 homology. nucleus phosphoprotein phosphatase activity ovary(1) 1 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACAAATGCAAATTATAAGATTAC 0.325 NaN NaN NaN NaN NaN NaN 24 61 --- --- POM121 9883 broad.mit.edu 37 7 72410394 72410395 + Frame_Shift_Del DEL AC AC - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr7:72410394_72410395delAC uc003twk.2 + 8 1450_1451 c.1450_1451delAC c.(1450-1452)ACAfs p.T484fs POM121_uc003twj.2_Frame_Shift_Del_p.T219fs|POM121_uc010lam.1_Frame_Shift_Del_p.T219fs NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 484 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) AGCTGCAGATACAACCCCAAGG 0.48 NaN NaN NaN NaN NaN NaN 115 181 --- --- MYST3 7994 broad.mit.edu 37 8 41798420 41798422 + In_Frame_Del DEL CTC CTC - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:41798420_41798422delCTC uc010lxb.2 - 16 3521_3523 c.2977_2979delGAG c.(2977-2979)GAGdel p.E993del MYST3_uc010lxc.2_In_Frame_Del_p.E993del|MYST3_uc003xon.3_In_Frame_Del_p.E993del NM_001099412 NP_001092882 Q92794 MYST3_HUMAN MYST histone acetyltransferase (monocytic 993 Poly-Glu. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211) all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983) Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171) GGCTTTCCGGCTCCTCCTCCTCC 0.567 NaN NaN NaN NaN NaN NaN 10 434 --- --- EIF2C2 27161 broad.mit.edu 37 8 141549532 141549532 + Frame_Shift_Del DEL C C - TCGA-DK-A1AD-01A-11D-A13W-08 TCGA-DK-A1AD-10A-01D-A13W-08 Untested Somatic Phase_I WXS none Illumina GAIIx 32398d56-8668-41b1-9c0b-c6aea6e3e787 c0ce73ec-2494-4119-afc7-94e51b4a3a29 g.chr8:141549532delC uc003yvn.2 - 16 2096 c.2056delG c.(2056-2058)GCCfs p.A686fs EIF2C2_uc010men.2_Frame_Shift_Del_p.A609fs|EIF2C2_uc010meo.2_Frame_Shift_Del_p.A686fs NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN argonaute 2 isoform 1 686 Piwi. mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity 0 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) TCACGGATGGCCAGCAACTCG 0.572 NaN NaN NaN NaN NaN NaN 25 112 --- ---