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 GLTPD1 80772 broad.mit.edu 37 1 1262843 1262843 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:1262843G>A uc001aeo.2 + 3 760 c.345G>A c.(343-345)CTG>CTA p.L115L CPSF3L_uc001aee.1_5'Flank|CPSF3L_uc001aef.1_5'Flank|CPSF3L_uc009vjz.1_5'Flank|CPSF3L_uc010nyj.1_5'Flank|CPSF3L_uc001aeg.1_5'Flank|CPSF3L_uc001aeh.1_5'Flank|CPSF3L_uc001aei.1_5'Flank|CPSF3L_uc001aej.1_5'Flank|CPSF3L_uc001aek.1_5'Flank|CPSF3L_uc001aem.1_5'Flank|CPSF3L_uc001ael.1_5'Flank|CPSF3L_uc001aen.1_5'Flank NM_001029885 NP_001025056 Q5TA50 GLTD1_HUMAN glycolipid transfer protein domain containing 1 115 cytoplasm glycolipid binding|glycolipid transporter activity 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;4.95e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) ACCGCGCCCTGCACTGGCTGC 0.726 NaN 0 0 0 0.004672 0 3 10 H6PD 9563 broad.mit.edu 37 1 9323690 9323690 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:9323690G>A uc001apt.2 + 5 1411 c.1138G>A c.(1138-1140)GTG>ATG p.V380M NM_004285 NP_004276 O95479 G6PE_HUMAN hexose-6-phosphate dehydrogenase precursor 380 Glucose 1-dehydrogenase. 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) GGCCTGCTGTGTGCAGAGCGA 0.642 NaN 0 0 0 0.001984 0 7 74 MRTO4 51154 broad.mit.edu 37 1 19584361 19584361 + Nonsense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:19584361C>T uc001bbs.2 + 6 631 c.376C>T c.(376-378)CGA>TGA p.R126* NM_016183 NP_057267 Q9UKD2 MRT4_HUMAN mRNA turnover 4 homolog 126 ribosome biogenesis nuclear membrane|nucleolus 0 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GGACTACGCCCGAGCTGGTAA 0.587 NaN 0 0 0 0.007413 0 19 99 IL28RA 163702 broad.mit.edu 37 1 24483775 24483775 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:24483775G>A uc001bis.2 - 7 1421 c.1408C>T c.(1408-1410)CAG>TAG p.Q470* IL28RA_uc001bir.2_Nonsense_Mutation_p.Q441*|IL28RA_uc001bit.2_3'UTR|IL28RA_uc001biu.2_Nonsense_Mutation_p.Q386* NM_170743 NP_734464 Q8IU57 I28RA_HUMAN interleukin 28 receptor, alpha isoform 1 470 Cytoplasmic (Potential). cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host interleukin-28 receptor complex protein binding|receptor activity 0 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185) GTCAGTGTCTGAAGAGAAACT 0.612 NaN 0 0 0 0.013537 0 13 76 PPP1R8 5511 broad.mit.edu 37 1 28176864 28176864 + Silent SNP C C G rs144281839 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:28176864C>G uc001bov.1 + 7 1017 c.963C>G c.(961-963)GTC>GTG p.V321V PPP1R8_uc001bow.1_Silent_p.V179V|PPP1R8_uc001box.1_Silent_p.V97V|PPP1R8_uc009vtc.1_RNA|PPP1R8_uc009vtd.1_RNA NM_014110 NP_054829 Q12972 PP1R8_HUMAN protein phosphatase 1 regulatory inhibitor 321 Interaction with EED. mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|RNA splicing|transcription, DNA-dependent cytoplasm|nuclear speck|spliceosomal complex DNA binding|endonuclease activity|protein binding|protein serine/threonine phosphatase inhibitor activity|ribonuclease E activity|RNA binding 0 Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.76e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00248)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649) ACCCTGCAGTCTATAACCCTG 0.488 NaN 0 0 0 0.004482 0 9 85 TINAGL1 64129 broad.mit.edu 37 1 32051353 32051353 + Splice_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:32051353G>A uc001bta.2 + 10 1220 c.1094_splice c.e10-1 p.A365_splice TINAGL1_uc001bsz.2_Splice_Site_p.A220_splice|TINAGL1_uc010ogj.1_Splice_Site_p.A334_splice|TINAGL1_uc010ogk.1_Splice_Site_p.A365_splice NM_022164 NP_071447 Q9GZM7 TINAL_HUMAN tubulointerstitial nephritis antigen-like 1 endosome transport|immune response|proteolysis extracellular region cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity 0 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145) TCTGCCCACAGCCCTCATGGA 0.597 NaN 0 0 0 0.000602 0 5 18 KHDRBS1 10657 broad.mit.edu 37 1 32503563 32503563 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:32503563C>G uc001bub.2 + 6 1139 c.1033C>G c.(1033-1035)CCA>GCA p.P345A KHDRBS1_uc001bua.1_Missense_Mutation_p.P306A|KHDRBS1_uc001buc.1_RNA NM_006559 NP_006550 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal 345 Pro-rich. cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(1) 1 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TGCTCCAGCACCAAGAGCACG 0.542 NaN 0 0 0 0.006214 0 10 108 FAM167B 84734 broad.mit.edu 37 1 32713099 32713099 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:32713099C>T uc001buw.2 + 1 282 c.77C>T c.(76-78)TCT>TTT p.S26F NM_032648 NP_116037 Q9BTA0 F167B_HUMAN hypothetical protein LOC84734 26 ovary(1) 1 AGCCTGGACTCTGTGAAGGCA 0.622 NaN 0 0 0 0.003163 0 15 30 EIF2C4 192670 broad.mit.edu 37 1 36301437 36301437 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:36301437G>C uc001bzj.1 + 13 1757 c.1567G>C c.(1567-1569)GAG>CAG p.E523Q NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 523 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ttttGTAGCGGAGGTGAAACG 0.363 NaN 0 0 0 0.001168 0 6 38 EIF2C4 192670 broad.mit.edu 37 1 36301505 36301505 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:36301505G>A uc001bzj.1 + 13 1825 c.1635G>A c.(1633-1635)GTG>GTA p.V545V NM_017629 NP_060099 Q9HCK5 AGO4_HUMAN eukaryotic translation initiation factor 2C, 4 545 Piwi. mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AAAATGTAGTGAAGACCTCAC 0.388 NaN 0 0 0 0.008291 0 9 67 KIAA0754 643314 broad.mit.edu 37 1 39876004 39876004 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:39876004G>T uc009vvt.1 + 1 829 c.67G>T c.(67-69)GAG>TAG p.E23* MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN hypothetical protein LOC643314 Error:Variant_position_missing_in_O94854_after_alignment 0 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) 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) GAAAGGAGAGGAGGAGGATGG 0.463 NaN 1 0 3.09899e-07 0.004482 3.47121e-07 7 35 MOBKL2C 148932 broad.mit.edu 37 1 47078790 47078790 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:47078790G>C uc001cqf.3 - 2 435 c.204C>G c.(202-204)TTC>TTG p.F68L MKNK1_uc010omf.1_Intron|MOBKL2C_uc001cqe.3_Missense_Mutation_p.F120L NM_201403 NP_958805 Q70IA8 MOL2C_HUMAN MOB1, Mps One Binder kinase activator-like 2C 68 metal ion binding pancreas(1) 1 Acute lymphoblastic leukemia(166;0.155) TGATGCGGTTGAAGAAGTCCA 0.652 NaN 0 0 0 0.001984 0 7 27 NFIA 4774 broad.mit.edu 37 1 61869892 61869892 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:61869892G>C uc001czw.2 + 8 1676 c.1192G>C c.(1192-1194)GAA>CAA p.E398Q NFIA_uc001czy.2_Missense_Mutation_p.E390Q|NFIA_uc010oos.1_Missense_Mutation_p.E443Q|NFIA_uc001czv.2_Missense_Mutation_p.E398Q|NFIA_uc001czx.2_Missense_Mutation_p.E46Q|NFIA_uc009wae.2_5'Flank NM_001134673 NP_001128145 Q12857 NFIA_HUMAN nuclear factor I/A isoform 1 398 DNA replication|viral genome replication cell junction|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding pancreas(1)|skin(1) 2 GACGCTGAAAGAATTTGTCCA 0.493 NaN 0 0 0 0.000602 0 5 48 DNASE2B 58511 broad.mit.edu 37 1 84880418 84880418 + Missense_Mutation SNP G G A rs146223730 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:84880418G>A uc001djt.1 + 6 986 c.953G>A c.(952-954)CGC>CAC p.R318H DNASE2B_uc001dju.1_Missense_Mutation_p.R110H|DNASE2B_uc009wch.1_Missense_Mutation_p.R110H NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN deoxyribonuclease II beta isoform 1 precursor 318 DNA metabolic process lysosome deoxyribonuclease II activity 0 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) ACCAAAAATCGCTGGACATGT 0.388 NaN Direct_reversal_of_damage 0 0 0 0.008291 0 11 34 SLC25A24 29957 broad.mit.edu 37 1 108679440 108679440 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:108679440T>C uc001dvn.3 - 10 1483 c.1269A>G c.(1267-1269)CCA>CCG p.P423P SLC25A24_uc001dvm.2_Silent_p.P404P NM_013386 NP_037518 Q6NUK1 SCMC1_HUMAN solute carrier family 25 member 24 isoform 1 423 Mitochondrial matrix (Potential).|Solcar 3. transmembrane transport integral to membrane|mitochondrial inner membrane calcium ion binding ovary(1) 1 all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211) Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134) TATTCAGCTGTGGGGAACCTT 0.373 NaN 0 0 0 0.004482 0 9 36 DDX20 11218 broad.mit.edu 37 1 112308496 112308496 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:112308496C>G uc001ebs.2 + 11 1807 c.1450C>G c.(1450-1452)CAA>GAA p.Q484E DDX20_uc010owf.1_Missense_Mutation_p.Q246E|DDX20_uc001ebt.2_Missense_Mutation_p.Q92E NM_007204 NP_009135 Q9UHI6 DDX20_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 484 SMN interacting. assembly of spliceosomal tri-snRNP|ncRNA metabolic process Cajal body|cytoskeleton|cytosol|spliceosomal complex ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding lung(1)|kidney(1) 2 all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05) Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAGAACCCTTCAAATTCAGAA 0.368 NaN 0 0 0 0.006214 0 10 78 BCL9 607 broad.mit.edu 37 1 147090920 147090920 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:147090920G>A uc001epq.2 + 8 1699 c.959G>A c.(958-960)GGG>GAG p.G320E BCL9_uc010ozr.1_Missense_Mutation_p.G246E NM_004326 NP_004317 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 320 Pro-rich. Wnt receptor signaling pathway nucleus protein binding ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.115) GTCTCCCAGGGGAGCAATAGC 0.607 NaN T IGH@|IGL@ B-ALL 0 0 0 0.001984 0 7 93 SELENBP1 8991 broad.mit.edu 37 1 151337485 151337485 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:151337485C>G uc001exx.2 - 11 1220 c.1173G>C c.(1171-1173)CAG>CAC p.Q391H SELENBP1_uc010pcy.1_Missense_Mutation_p.Q433H|SELENBP1_uc001exy.2_Missense_Mutation_p.Q288H|SELENBP1_uc001exz.2_Missense_Mutation_p.Q288H|SELENBP1_uc010pcz.1_Missense_Mutation_p.Q329H|SELENBP1_uc009wms.2_Missense_Mutation_p.Q227H|SELENBP1_uc009wmt.2_Missense_Mutation_p.Q288H|SELENBP1_uc001eya.2_Missense_Mutation_p.Q327H|SELENBP1_uc009wmu.2_Missense_Mutation_p.A260P NM_003944 NP_003935 Q13228 SBP1_HUMAN selenium binding protein 1 391 protein transport cytosol|membrane|nucleolus protein binding|selenium binding 0 Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAGGCTGAGCTGGATCATCT 0.567 NaN 0 0 0 0.004672 0 3 7 THBS3 7059 broad.mit.edu 37 1 155170384 155170384 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:155170384G>T uc001fix.2 - 14 1589 c.1566C>A c.(1564-1566)TTC>TTA p.F522L RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_Missense_Mutation_p.F513L|THBS3_uc001fiz.2_Missense_Mutation_p.F485L|THBS3_uc001fiy.2_Missense_Mutation_p.F51L|THBS3_uc010pfu.1_Missense_Mutation_p.F402L|THBS3_uc010pfv.1_Intron|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 522 TSP type-3 2. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) CTTTGTTGGGGAACAGCCGGC 0.517 NaN 1 0 1.58986e-06 0.008291 1.76115e-06 10 76 FCRL5 83416 broad.mit.edu 37 1 157514143 157514143 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:157514143C>G uc001fqu.2 - 5 911 c.753G>C c.(751-753)TGG>TGC p.W251C FCRL5_uc009wsm.2_Missense_Mutation_p.W251C|FCRL5_uc010phv.1_Missense_Mutation_p.W251C|FCRL5_uc010phw.1_Missense_Mutation_p.W166C|FCRL5_uc001fqv.1_Missense_Mutation_p.W251C|FCRL5_uc010phx.1_Missense_Mutation_p.W2C NM_031281 NP_112571 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 251 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane|plasma membrane receptor activity ovary(3)|breast(2)|central_nervous_system(1) 6 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) AATCTTTACTCCACATGGCAG 0.512 NaN 0 0 0 0.001855 0 13 171 FCRL3 115352 broad.mit.edu 37 1 157667580 157667580 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:157667580C>G uc001frb.2 - 5 720 c.428G>C c.(427-429)AGT>ACT p.S143T FCRL3_uc001fqx.3_RNA|FCRL3_uc001fqy.3_RNA|FCRL3_uc001fqz.3_Missense_Mutation_p.S143T|FCRL3_uc009wsn.2_RNA|FCRL3_uc009wso.2_RNA|FCRL3_uc001fra.2_5'UTR|FCRL3_uc001frc.1_Missense_Mutation_p.S143T NM_052939 NP_443171 Q96P31 FCRL3_HUMAN Fc receptor-like 3 precursor 143 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane|plasma membrane receptor activity ovary(3)|breast(1) 4 all_hematologic(112;0.0378) TAAATTATAACTATTAGGAAG 0.348 NaN 0 0 0 0.003163 0 15 114 KIRREL 55243 broad.mit.edu 37 1 158059372 158059372 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:158059372G>T uc001frn.3 + 9 1529 c.1125G>T c.(1123-1125)GTG>GTT p.V375V KIRREL_uc010pib.1_Silent_p.V275V|KIRREL_uc009wsq.2_Silent_p.V211V|KIRREL_uc001fro.3_Silent_p.V189V NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 375 Extracellular (Potential).|Ig-like C2-type 4. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) GGGCCATCGTGCCTCGAATCG 0.637 NaN 1 0 1.56452e-12 0.007413 1.84522e-12 18 36 CADM3 57863 broad.mit.edu 37 1 159166681 159166681 + Silent SNP C C G rs149370954 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:159166681C>G uc001ftl.2 + 7 925 c.783C>G c.(781-783)GTC>GTG p.V261V CADM3_uc009wsy.1_Silent_p.V215V|CADM3_uc001ftk.2_Silent_p.V295V|uc001ftm.1_RNA NM_001127173 NP_001120645 Q8N126 CADM3_HUMAN cell adhesion molecule 3 isoform 2 261 Ig-like C2-type 2.|Extracellular (Potential). adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity ovary(2) 2 all_hematologic(112;0.0429) GCCTCGACAGCCCCCAGCAGT 0.517 NaN 0 0 0 0.000602 0 5 53 SLAMF9 89886 broad.mit.edu 37 1 159923348 159923348 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:159923348C>T uc001fus.2 - 2 259 c.142G>A c.(142-144)GAA>AAA p.E48K SLAMF9_uc009wtd.2_Missense_Mutation_p.E48K|SLAMF9_uc001fut.2_Missense_Mutation_p.E48K NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 48 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TCAACCTCTTCATCTGGTGGT 0.532 NaN 0 0 0 0.008291 0 9 83 PEX19 5824 broad.mit.edu 37 1 160253381 160253381 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:160253381G>A uc001fvs.2 - 2 146 c.119C>T c.(118-120)TCT>TTT p.S40F DCAF8_uc010pjc.1_Intron|PEX19_uc010pje.1_RNA|PEX19_uc001fvt.2_Intron NM_002857 NP_002848 P40855 PEX19_HUMAN peroxisomal biogenesis factor 19 isoform a 40 Necessary for PEX19 function on peroxisome biogenesis.|Docking to the peroxisome membrane and binding to PEX3. peroxisome membrane biogenesis|peroxisome organization|protein targeting to peroxisome|transmembrane transport brush border membrane|cytosol|integral to membrane|nucleus|peroxisomal membrane protein binding|protein N-terminus binding 0 all_cancers(52;1.27e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CGTGGTGGTAGAAGGGGGTGC 0.547 NaN 0 0 0 0.013537 0 11 40 VANGL2 57216 broad.mit.edu 37 1 160395046 160395046 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:160395046C>T uc001fwb.1 + 9 1743 c.1444C>T c.(1444-1446)CGC>TGC p.R482C VANGL2_uc001fwc.1_Missense_Mutation_p.R482C NM_020335 NP_065068 Q9ULK5 VANG2_HUMAN vang-like 2 482 Cytoplasmic (Potential). apical protein localization|heart looping|nonmotile primary cilium assembly apical plasma membrane|integral to membrane ovary(1) 1 all_cancers(52;1.08e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCTCTTAAAACGCCAGGACTT 0.532 NaN 0 0 0 0.009096 0 4 59 LY9 4063 broad.mit.edu 37 1 160769632 160769632 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:160769632G>A uc001fwu.2 + 2 264 c.214G>A c.(214-216)GAC>AAC p.D72N LY9_uc001fwt.2_Missense_Mutation_p.D72N|LY9_uc010pjs.1_Missense_Mutation_p.D72N|LY9_uc001fwv.2_Missense_Mutation_p.D72N|LY9_uc001fww.2_Missense_Mutation_p.D72N|LY9_uc001fwx.2_Missense_Mutation_p.D72N|LY9_uc001fwy.1_5'UTR NM_002348 NP_002339 Q9HBG7 LY9_HUMAN lymphocyte antigen 9 isoform a 72 Extracellular (Potential).|Ig-like V-type 1. cell adhesion|immunoglobulin mediated immune response integral to membrane ovary(1) 1 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) CATCTCAGTAGACACAGAGAT 0.493 NaN 0 0 0 0.006214 0 10 77 ATF6 22926 broad.mit.edu 37 1 161928235 161928235 + Splice_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:161928235G>A uc001gbr.2 + 16 1872 c.1805_splice c.e16-1 p.E602_splice ATF6_uc001gbs.2_5'Flank NM_007348 NP_031374 P18850 ATF6A_HUMAN activating transcription factor 6 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2)|skin(1) 3 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) CCTGTCTGCAGAGAATGTGAT 0.433 NaN 0 0 0 0.001984 0 7 90 FMO3 2328 broad.mit.edu 37 1 171073096 171073096 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:171073096G>A uc001ghi.2 + 3 414 c.303G>A c.(301-303)CTG>CTA p.L101L FMO3_uc001ghh.2_Silent_p.L101L|FMO3_uc010pmb.1_Silent_p.L81L|FMO3_uc010pmc.1_Intron|MIR1295_hsa-mir-1295|MI0006357_5'Flank NM_001002294 NP_001002294 P31513 FMO3_HUMAN flavin containing monooxygenase 3 101 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity skin(1) 1 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGAACCTCCTGAAGTACATAC 0.378 NaN 0 0 0 0.010729 0 12 55 TNN 63923 broad.mit.edu 37 1 175052985 175052985 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:175052985T>A uc001gkl.1 + 5 1261 c.1148T>A c.(1147-1149)CTG>CAG p.L383Q TNN_uc010pmx.1_Missense_Mutation_p.L383Q NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 383 Fibronectin type-III 2. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TACTACAAGCTGCGATATGGC 0.552 NaN 0 0 0 0.001168 0 6 80 ASTN1 460 broad.mit.edu 37 1 177133537 177133537 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:177133537G>A uc001glc.2 - 1 488 c.276C>T c.(274-276)TTC>TTT p.F92F ASTN1_uc001glb.1_Silent_p.F92F|ASTN1_uc001gld.1_Silent_p.F92F|ASTN1_uc009wwx.1_Silent_p.F92F NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 92 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 CACCCAGCACGAAGTAGGGCA 0.692 NaN 0 0 0 0.009096 0 4 15 CACNA1E 777 broad.mit.edu 37 1 181754895 181754895 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:181754895A>T uc001gow.2 + 43 5891 c.5726A>T c.(5725-5727)CAG>CTG p.Q1909L CACNA1E_uc009wxs.2_Missense_Mutation_p.Q1797L|CACNA1E_uc009wxt.2_Missense_Mutation_p.Q1135L NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 1909 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 TCTCTGCCTCAGGAGATCATT 0.507 NaN 0 0 0 0.008871 0 20 248 C1orf25 81627 broad.mit.edu 37 1 185113039 185113039 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:185113039G>C uc001grf.3 - 6 1050 c.778C>G c.(778-780)CGG>GGG p.R260G C1orf25_uc010pon.1_Missense_Mutation_p.R104G NM_030934 NP_112196 Q7Z2T5 TRM1L_HUMAN N2,N2-dimethylguanosine tRNA 260 intracellular RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding 0 TTATCTTACCGATTTAGTTTC 0.303 NaN 0 0 0 0.00308 0 8 34 HMCN1 83872 broad.mit.edu 37 1 186045614 186045614 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:186045614G>T uc001grq.1 + 54 8574 c.8345G>T c.(8344-8346)AGG>ATG p.R2782M NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 2782 Ig-like C2-type 26. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GATACTGGCAGGAATGGTGAA 0.413 NaN 1 0 1.23904e-05 0.000602 1.34649e-05 5 85 CHIT1 1118 broad.mit.edu 37 1 203188877 203188877 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:203188877G>T uc001gzn.2 - 8 926 c.830C>A c.(829-831)TCA>TAA p.S277* FMOD_uc010pqi.1_Intron|CHIT1_uc001gzm.1_RNA|CHIT1_uc009xal.1_Nonsense_Mutation_p.S68*|CHIT1_uc009xam.1_RNA|CHIT1_uc009xan.1_RNA|CHIT1_uc001gzo.2_Nonsense_Mutation_p.S268* NM_003465 NP_003456 Q13231 CHIT1_HUMAN chitotriosidase precursor 277 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity 0 TCTGGTGTCTGATGAGGAGGC 0.597 NaN 1 0 0.000673444 0.008291 0.00070694 11 54 CNTN2 6900 broad.mit.edu 37 1 205027351 205027351 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:205027351C>T uc001hbr.2 + 4 527 c.258C>T c.(256-258)TCC>TCT p.S86S CNTN2_uc001hbq.1_5'UTR|CNTN2_uc009xbi.2_5'UTR|CNTN2_uc001hbs.2_5'Flank NM_005076 NP_005067 Q02246 CNTN2_HUMAN contactin 2 precursor 86 Ig-like C2-type 1. axon guidance|clustering of voltage-gated potassium channels anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part identical protein binding ovary(1) 1 all_cancers(21;0.144)|Breast(84;0.0437) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) AGCCAGGTTCCCGTCACCAGC 0.632 NaN 0 0 0 0.009096 0 4 25 NUAK2 81788 broad.mit.edu 37 1 205290642 205290642 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:205290642C>A uc001hce.2 - 1 242 c.115G>T c.(115-117)GCG>TCG p.A39S NM_030952 NP_112214 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 39 actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|stomach(1)|breast(1) 5 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) CGCTTCACCGCCTGCTTCTTC 0.667 NaN 1 0 0.00909568 0.009096 0.00935222 4 19 PIGR 5284 broad.mit.edu 37 1 207110743 207110743 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:207110743C>G uc001hez.2 - 4 926 c.742G>C c.(742-744)GAC>CAC p.D248H PIGR_uc009xbz.2_Missense_Mutation_p.D248H NM_002644 NP_002635 P01833 PIGR_HUMAN polymeric immunoglobulin receptor precursor 248 Extracellular (Potential). extracellular region|integral to plasma membrane protein binding ovary(1)|central_nervous_system(1)|skin(1) 3 CCCCTCAGGTCTTCATAAACC 0.547 NaN 0 0 0 0.010729 0 12 68 C1orf116 79098 broad.mit.edu 37 1 207200869 207200869 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:207200869C>A uc001hfd.2 - 2 334 c.75G>T c.(73-75)ATG>ATT p.M25I C1orf116_uc009xcb.1_Intron NM_023938 NP_076427 Q9BW04 SARG_HUMAN specifically androgen-regulated protein isoform 25 cytoplasm|plasma membrane receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Prostate(682;0.19) TGCTGCTCATCATGCTGTCAC 0.542 NaN 1 0 3.59834e-05 0.001168 3.88931e-05 6 51 IRF6 3664 broad.mit.edu 37 1 209974736 209974736 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:209974736A>T uc001hhq.1 - 3 286 c.23T>A c.(22-24)GTC>GAC p.V8D IRF6_uc010psm.1_Intron|IRF6_uc009xct.1_Missense_Mutation_p.V8D NM_006147 NP_006138 O14896 IRF6_HUMAN interferon regulatory factor 6 8 IRF tryptophan pentad repeat. cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(81;0.0351) CTTTAGCCGGACTCTGCGGGG 0.597 NaN HNSCC(57;0.16) 0 0 0 0.003163 0 16 56 PROX1 5629 broad.mit.edu 37 1 214185050 214185050 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:214185050G>A uc001hkh.2 + 4 2292 c.2020G>A c.(2020-2022)GAC>AAC p.D674N NM_002763 NP_002754 Q92786 PROX1_HUMAN prospero homeobox 1 674 Prospero-like. aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding ovary(3)|lung(1)|central_nervous_system(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) TAAAGCAAATGACTTTGAGGT 0.368 NaN 0 0 0 0.010771 0 46 60 TP53BP2 7159 broad.mit.edu 37 1 223994610 223994610 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:223994610G>A uc010pvb.1 - 5 704 c.412C>T c.(412-414)CAG>TAG p.Q138* TP53BP2_uc001hod.2_Nonsense_Mutation_p.Q9* NM_001031685 NP_001026855 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 isoform 1 132 Gln-rich. apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(2)|lung(1) 3 GBM - Glioblastoma multiforme(131;0.0958) GCCATTTCCTGAAGTTCAGCA 0.368 NaN 0 0 0 0.003755 0 36 76 WDR26 80232 broad.mit.edu 37 1 224599169 224599169 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:224599169C>G uc001hop.3 - 7 1043 c.677G>C c.(676-678)GGA>GCA p.G226A WDR26_uc001hoq.3_Missense_Mutation_p.G210A|WDR26_uc010pvh.1_5'UTR NM_025160 NP_079436 Q9H7D7 WDR26_HUMAN WD repeat domain 26 isoform a 373 WD 1. cytoplasm|nucleus 0 GBM - Glioblastoma multiforme(131;0.0104) ATCTTTTGATCCTGTTGCTAG 0.368 NaN 0 0 0 0.000602 0 5 68 PCNXL2 80003 broad.mit.edu 37 1 233120095 233120095 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:233120095G>T uc001hvl.2 - 34 6604 c.6369C>A c.(6367-6369)GGC>GGA p.G2123G PCNXL2_uc001hvk.1_3'UTR|PCNXL2_uc001hvm.1_RNA NM_014801 NP_055616 A6NKB5 PCX2_HUMAN pecanex-like 2 2123 integral to membrane central_nervous_system(1)|pancreas(1) 2 all_cancers(173;0.0347)|Prostate(94;0.137) TGTCGTCCAGGCCCATGTCCT 0.667 NaN 1 0 0.00024832 0.009096 0.000263429 4 25 FH 2271 broad.mit.edu 37 1 241665791 241665791 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:241665791G>T uc001hyx.2 - 8 1220 c.1188C>A c.(1186-1188)GTC>GTA p.V396V NM_000143 NP_000134 P07954 FUMH_HUMAN fumarate hydratase precursor 396 fumarate metabolic process|tricarboxylic acid cycle cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex fumarate hydratase activity lung(3)|ovary(1)|skin(1) 5 Ovarian(103;0.103) all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118) OV - Ovarian serous cystadenocarcinoma(106;0.0214) Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109) TGCTGCCTCCGACAGTGACAG 0.413 NaN Mis|N|F lieomyomatosis|renal Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer 1 0 2.32078e-09 0.003163 2.67424e-09 15 60 CHML 1122 broad.mit.edu 37 1 241798263 241798263 + Missense_Mutation SNP C C T rs148967774 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr1:241798263C>T uc001hzd.2 - 1 970 c.806G>A c.(805-807)CGG>CAG p.R269Q OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 269 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity p.R269R(1) ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CTTTCCTTCCCGAAATGCAAG 0.353 NaN 0 0 0 0.00245 0 15 68 ECHDC3 79746 broad.mit.edu 37 10 11789413 11789413 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:11789413A>C uc001ikw.3 + 2 456 c.236A>C c.(235-237)CAA>CCA p.Q79P ECHDC3_uc009xix.2_5'UTR NM_024693 NP_078969 Q96DC8 ECHD3_HUMAN enoyl Coenzyme A hydratase domain containing 3 79 mitochondrion catalytic activity 0 AAGTCTCTCCAAAGTGACATT 0.438 NaN 0 0 0 0.014323 0 17 99 ANKRD26 22852 broad.mit.edu 37 10 27389109 27389109 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:27389109C>G uc001ith.2 - 1 319 c.147G>C c.(145-147)AAG>AAC p.K49N ANKRD26_uc009xku.1_Missense_Mutation_p.K49N NM_014915 NP_055730 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 49 ANK 1. centrosome large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|skin(1) 4 CTTTGTGGATCTTGCCGAGAT 0.622 NaN 0 0 0 0.013726 0 32 76 ZNF37A 7587 broad.mit.edu 37 10 38407718 38407718 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:38407718G>C uc001izk.2 + 8 2458 c.1639G>C c.(1639-1641)GGG>CGG p.G547R ZNF37A_uc001izl.2_Missense_Mutation_p.G547R|ZNF37A_uc001izm.2_Missense_Mutation_p.G547R NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 547 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AATACACTTGGGGAGAAACCC 0.363 NaN 0 0 0 0.004482 0 9 38 CHAT 1103 broad.mit.edu 37 10 50854654 50854654 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:50854654C>G uc001jhz.2 + 8 1368 c.1215C>G c.(1213-1215)CTC>CTG p.L405L CHAT_uc001jhv.1_Silent_p.L287L|CHAT_uc001jhx.1_Silent_p.L287L|CHAT_uc001jhy.1_Silent_p.L287L|CHAT_uc001jia.2_Silent_p.L287L|CHAT_uc010qgs.1_Silent_p.L287L NM_020549 NP_065574 P28329 CLAT_HUMAN choline acetyltransferase isoform 2 405 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3) 3 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) ACAGGGCACTCCAGCTCCTTC 0.637 NaN 0 0 0 0.001855 0 14 43 PRKG1 5592 broad.mit.edu 37 10 54048534 54048534 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:54048534G>C uc001jjm.2 + 15 1907 c.1713G>C c.(1711-1713)TTG>TTC p.L571F PRKG1_uc001jjo.2_Missense_Mutation_p.L586F|PRKG1_uc009xow.1_Missense_Mutation_p.L289F|uc001jjq.1_Intron NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 571 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) ACATCATATTGAGGGGGATTG 0.343 NaN 0 0 0 0.000602 0 5 64 PCDH15 65217 broad.mit.edu 37 10 56138648 56138648 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:56138648G>C uc001jju.1 - 4 607 c.212C>G c.(211-213)CCC>CGC p.P71R PCDH15_uc010qhq.1_Missense_Mutation_p.P76R|PCDH15_uc010qhr.1_Missense_Mutation_p.P71R|PCDH15_uc010qhs.1_Missense_Mutation_p.P76R|PCDH15_uc010qht.1_Missense_Mutation_p.P71R|PCDH15_uc010qhu.1_Missense_Mutation_p.P71R|PCDH15_uc001jjv.1_Missense_Mutation_p.P49R|PCDH15_uc010qhv.1_Missense_Mutation_p.P71R|PCDH15_uc010qhw.1_Missense_Mutation_p.P71R|PCDH15_uc010qhx.1_Missense_Mutation_p.P71R|PCDH15_uc010qhy.1_Missense_Mutation_p.P76R|PCDH15_uc010qhz.1_Missense_Mutation_p.P71R|PCDH15_uc010qia.1_Missense_Mutation_p.P49R|PCDH15_uc010qib.1_Missense_Mutation_p.P49R|PCDH15_uc001jjw.2_Missense_Mutation_p.P71R NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 71 Cadherin 1.|Extracellular (Potential). equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) TTCTATGGTGGGGTCTGGTCC 0.423 NaN HNSCC(58;0.16) 0 0 0 0.00308 0 8 149 ANK3 288 broad.mit.edu 37 10 61832871 61832871 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:61832871C>T uc001jky.2 - 37 7960 c.7768G>A c.(7768-7770)GAA>AAA p.E2590K ANK3_uc001jkw.2_Intron|ANK3_uc009xpa.2_Intron|ANK3_uc001jkx.2_Intron|ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jkv.2_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 2590 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 TGTGACACTTCAGTCAGTTTT 0.418 NaN 0 0 0 0.004656 0 28 81 TET1 80312 broad.mit.edu 37 10 70405499 70405499 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:70405499C>G uc001jok.3 + 4 3518 c.3013C>G c.(3013-3015)CTT>GTT p.L1005V NM_030625 NP_085128 Q8NFU7 TET1_HUMAN CXXC finger 6 1005 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding ovary(5)|lung(2)|prostate(1)|breast(1) 9 TTCATTATCTCTTTTTATACC 0.338 NaN 0 0 0 0.001168 0 6 62 GRID1 2894 broad.mit.edu 37 10 88123752 88123752 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:88123752T>C uc001kdl.1 - 2 282 c.181A>G c.(181-183)ACC>GCC p.T61A GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 61 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) ATGGAGTAGGTGATCTTCTCG 0.602 NaN Multiple Myeloma(13;0.14) 0 0 0 0.00308 0 8 37 ZNF518A 9849 broad.mit.edu 37 10 97919613 97919613 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr10:97919613G>C uc001klp.2 + 6 4391 c.3534G>C c.(3532-3534)CAG>CAC p.Q1178H ZNF518A_uc001klo.1_Missense_Mutation_p.Q648H|ZNF518A_uc001klq.2_Missense_Mutation_p.Q1178H|ZNF518A_uc001klr.2_Missense_Mutation_p.Q1178H NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN zinc finger protein 518 1178 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) CATCTAATCAGATTATAGGAG 0.373 NaN 0 0 0 0.010729 0 11 54 MUC5B 727897 broad.mit.edu 37 11 1151641 1151641 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:1151641G>C uc009ycr.1 + 2 141 c.15G>C c.(13-15)CGG>CGC p.R5R NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; Error:Variant_position_missing_in_Q9HC84_after_alignment cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTGTTGGCCGGAGGAAGCTGG 0.662 NaN 0 0 0 0.004672 0 3 3 PLEKHA7 144100 broad.mit.edu 37 11 16892712 16892712 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:16892712G>C uc001mmo.2 - 4 254 c.239C>G c.(238-240)ACA>AGA p.T80R PLEKHA7_uc010rcu.1_Missense_Mutation_p.T80R NM_175058 NP_778228 Q6IQ23 PKHA7_HUMAN pleckstrin homology domain containing, family A 80 WW 2. epithelial cell-cell adhesion|zonula adherens maintenance centrosome|zonula adherens delta-catenin binding skin(2)|central_nervous_system(1) 3 CCTGAATGCTGTGGTCTGCTG 0.428 NaN 0 0 0 0.001984 0 6 32 WT1 7490 broad.mit.edu 37 11 32456366 32456366 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:32456366G>A uc001mtn.1 - 1 722 c.526C>T c.(526-528)CGC>TGC p.R176C WT1_uc001mto.1_Missense_Mutation_p.R176C|WT1_uc001mtp.1_Missense_Mutation_p.R176C|WT1_uc001mtq.1_Missense_Mutation_p.R176C|WT1_uc009yjs.1_RNA|WIT1_uc010rec.1_5'Flank|WIT1_uc010red.1_5'Flank|WIT1_uc010ree.1_5'Flank NM_024426 NP_077744 P19544 WT1_HUMAN Wilms tumor 1 isoform D 108 adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development cytoplasm|nuclear speck|nucleoplasm C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding EWSR1/WT1(231) haematopoietic_and_lymphoid_tissue(318)|soft_tissue(231)|kidney(132)|pleura(2)|lung(2)|upper_aerodigestive_tract(1)|peritoneum(1) 687 Breast(20;0.247) OV - Ovarian serous cystadenocarcinoma(30;0.128) GGCCCGTAGCGACAGGCTCCG 0.692 NaN D|Mis|N|F|S EWSR1 Wilms|desmoplastic small round cell tumor Wilms Denys-Drash_syndrome|Frasier_syndrome|Familial_Wilms_tumor|Wilms_tumor-Aniridia-ambiguous_Genitals-mental_Retardation 0 0 0 0.001168 0 6 18 CKAP5 9793 broad.mit.edu 37 11 46771875 46771875 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:46771875G>C uc001ndi.1 - 42 5763 c.5653C>G c.(5653-5655)CGG>GGG p.R1885G CKAP5_uc009ylg.1_Missense_Mutation_p.R1778G|CKAP5_uc001ndj.1_Missense_Mutation_p.R1825G|CKAP5_uc001ndh.1_Missense_Mutation_p.R814G NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 1885 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 TCAATCACCCGAAGGCCTCTT 0.413 NaN 0 0 0 0.006122 0 18 69 P2RX3 5024 broad.mit.edu 37 11 57118338 57118338 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:57118338G>A uc001nju.2 + 8 884 c.808G>A c.(808-810)GAG>AAG p.E270K NM_002559 NP_002550 P56373 P2RX3_HUMAN purinergic receptor P2X3 270 Extracellular (Potential). positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling integral to plasma membrane ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity 0 CAGCGTTTCTGAGAAAAGCAG 0.552 NaN 0 0 0 0.010729 0 11 36 C11orf9 745 broad.mit.edu 37 11 61543557 61543557 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:61543557C>T uc001nsc.1 + 9 1437 c.1341C>T c.(1339-1341)ATC>ATT p.I447I C11orf9_uc001nse.1_Silent_p.I438I|C11orf9_uc010rll.1_5'Flank NM_001127392 NP_001120864 Q9Y2G1 MRF_HUMAN myelin gene regulatory factor isoform 2 447 NDT80. central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent integral to membrane|nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1) 1 CCATTAACATCGAGCAGTCCC 0.622 NaN 0 0 0 0.000602 0 5 64 AHNAK 79026 broad.mit.edu 37 11 62287326 62287326 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:62287326C>A uc001ntl.2 - 5 14863 c.14563G>T c.(14563-14565)GAC>TAC p.D4855Y AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 4855 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) AAATCCAGGTCAACATCAGGT 0.433 NaN 1 0 2.89027e-11 0.014323 3.39882e-11 24 91 VEGFB 7423 broad.mit.edu 37 11 64004936 64004936 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:64004936G>A uc001nyw.2 + 6 495 c.455G>A c.(454-456)GGC>GAC p.G152D VEGFB_uc001nyx.2_Intron NM_003377 NP_003368 P49765 VEGFB_HUMAN vascular endothelial growth factor B precursor 152 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding 0 TCTGTTCCGGGCTGGGACTCT 0.682 NaN 0 0 0 0.000602 0 5 24 FAU 2197 broad.mit.edu 37 11 64889260 64889260 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:64889260T>A uc001ocx.2 - 2 133 c.26A>T c.(25-27)GAG>GTG p.E9V FAU_uc001ocy.1_Missense_Mutation_p.E9V|MRPL49_uc001ocz.1_5'Flank|MRPL49_uc001oda.1_5'Flank NM_001997 NP_001988 P35544 UBIM_HUMAN ubiquitin-like protein fubi and ribosomal 9 0 GGTGTGTAGCTCCTGGGCGCG 0.527 NaN 0 0 0 0.000602 0 5 42 ACY3 91703 broad.mit.edu 37 11 67412565 67412565 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:67412565C>G uc001omq.2 - 6 756 c.585G>C c.(583-585)ATG>ATC p.M195I NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 195 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) CCAGGGTCCTCATCCTTGAGA 0.612 NaN 0 0 0 0.012213 0 32 98 ACY3 91703 broad.mit.edu 37 11 67412598 67412598 + Missense_Mutation SNP C C A rs142720670 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:67412598C>A uc001omq.2 - 6 723 c.552G>T c.(550-552)CAG>CAT p.Q184H NM_080658 NP_542389 Q96HD9 ACY3_HUMAN aspartoacylase 3 184 interspecies interaction between organisms apical plasma membrane|cytoplasm hydrolase activity, acting on ester bonds|metal ion binding 0 L-Aspartic Acid(DB00128) GCAGCACACCCTGTGGCTGGG 0.602 NaN 1 0 1.10513e-12 0.014323 1.30725e-12 24 82 IGHMBP2 3508 broad.mit.edu 37 11 68682376 68682376 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:68682376G>A uc001ook.1 + 6 899 c.797G>A c.(796-798)GGA>GAA p.G266E IGHMBP2_uc001ooj.1_RNA NM_002180 NP_002171 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 266 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding 0 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CTGCGCCTGGGACACCCTGCC 0.612 NaN 0 0 0 0.008291 0 10 64 MED17 9440 broad.mit.edu 37 11 93540715 93540715 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:93540715G>C uc001pem.3 + 10 1773 c.1498G>C c.(1498-1500)GAG>CAG p.E500Q NM_004268 NP_004259 Q9NVC6 MED17_HUMAN mediator complex subunit 17 500 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex|transcription factor complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1) 1 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TATTGGAGTTGAGCAGATTCG 0.338 NaN 0 0 0 0.014323 0 21 53 MAML2 84441 broad.mit.edu 37 11 95712801 95712801 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:95712801C>A uc001pfw.1 - 5 4067 c.2782G>T c.(2782-2784)GGA>TGA p.G928* NM_032427 NP_115803 Q8IZL2 MAML2_HUMAN mastermind-like 2 928 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC1/MAML2(516)|CRTC3/MAML2(26) salivary_gland(500)|lung(36)|thyroid(4)|breast(3)|skin(2)|ovary(1) 546 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) CCAACAGATCCAGCTCCAAAA 0.413 NaN T MECT1|CRTC3 salivary gland mucoepidermoid 1 0 5.50884e-06 0.013537 6.03564e-06 12 62 ATM 472 broad.mit.edu 37 11 108192066 108192066 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 A G A A Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:108192066A>G uc001pkb.1 + 45 6876 c.6491A>G c.(6490-6492)GAG>GGG p.E2164G ATM_uc009yxr.1_Missense_Mutation_p.E2164G|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.1_Missense_Mutation_p.E816G|ATM_uc001pkg.1_Missense_Mutation_p.E521G NM_000051 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated isoform 1 2164 FAT. E -> K (in T-prolymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E2164K(1) haematopoietic_and_lymphoid_tissue(174)|lung(25)|breast(15)|large_intestine(9)|ovary(5)|kidney(5)|central_nervous_system(4)|upper_aerodigestive_tract(1)|stomach(1)|NS(1) 240 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) CGCAGCCTTGAGTCTGTGTAT 0.413 NaN D|Mis|N|F|S T-PLL leukemia|lymphoma|medulloblastoma|glioma Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Ataxia_Telangiectasia TSP Lung(14;0.12) 0 0 0 0.006214 0 10 78 DSCAML1 57453 broad.mit.edu 37 11 117342611 117342611 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:117342611C>G uc001prh.1 - 15 3108 c.3106G>C c.(3106-3108)GAG>CAG p.E1036Q NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 976 Extracellular (Potential).|Fibronectin type-III 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ATGGTGAGCTCCTTGCTTGGT 0.592 NaN 0 0 0 0.012319 0 21 32 CBL 867 broad.mit.edu 37 11 119142469 119142469 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:119142469C>T uc001pwe.2 + 3 606 c.468C>T c.(466-468)CTC>CTT p.L156L NM_005188 NP_005179 P22681 CBL_HUMAN Cas-Br-M (murine) ecotropic retroviral 156 Cbl-PTB.|4H. epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis cytosol|nucleus calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(135)|lung(10)|central_nervous_system(2)|ovary(1)|breast(1) 149 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784) AACTGTCCCTCATCTTCAGCC 0.368 NaN CBL_gene-associated_Juvenile_Myelomonocytic_Leukemia_and_Developmental_Anomalies|Noonan_syndrome 0 0 0 0.010818 0 33 49 MFRP 83552 broad.mit.edu 37 11 119216324 119216324 + Silent SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:119216324A>C uc001pwj.2 - 5 607 c.447T>G c.(445-447)TCT>TCG p.S149S MFRP_uc010rzf.1_RNA|MFRP_uc010rzg.1_Silent_p.S149S NM_031433 NP_113621 Q9BXJ0 C1QT5_HUMAN membrane frizzled-related protein Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment collagen 0 Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.84e-05) CCCTTGGGCCAGAGAGGAGGC 0.572 NaN 0 0 0 0.004482 0 8 45 OR8B4 283162 broad.mit.edu 37 11 124294104 124294104 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:124294104A>G uc010sak.1 - 1 664 c.664T>C c.(664-666)TCC>CCC p.S222P NM_001005196 NP_001005196 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, 222 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) AGGATGTTGGAGAGTATCAAA 0.468 NaN 0 0 0 0.00245 0 14 29 VSIG2 23584 broad.mit.edu 37 11 124621381 124621381 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:124621381C>A uc001qas.2 - 2 233 c.157G>T c.(157-159)GAC>TAC p.D53Y VSIG2_uc001qat.2_Missense_Mutation_p.D53Y NM_014312 NP_055127 Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 53 Extracellular (Potential).|Ig-like V-type. integral to plasma membrane|membrane fraction ovary(3)|central_nervous_system(1) 4 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) GCGAAGCTGTCTCCCACCGAC 0.637 NaN 1 0 0.00448238 0.004482 0.00466866 8 52 AKAP3 10566 broad.mit.edu 37 12 4735736 4735736 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:4735736G>A uc001qnb.3 - 4 2561 c.2332C>T c.(2332-2334)CAA>TAA p.Q778* NM_006422 NP_006413 O75969 AKAP3_HUMAN A-kinase anchor protein 3 778 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding skin(3)|large_intestine(1)|ovary(1)|kidney(1) 6 GCTACCCATTGAAGGACGGCT 0.493 NaN 0 0 0 0.000602 0 5 71 CHD4 1108 broad.mit.edu 37 12 6703629 6703629 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:6703629T>C uc001qpo.2 - 15 2473 c.2309A>G c.(2308-2310)AAG>AGG p.K770R CHD4_uc001qpn.2_Missense_Mutation_p.K763R|CHD4_uc001qpp.2_Missense_Mutation_p.K767R NM_001273 NP_001264 Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 770 Helicase ATP-binding. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 CCTTACCTCCTTGTAAAGGGA 0.448 NaN 0 0 0 0.010729 0 12 47 GYS2 2998 broad.mit.edu 37 12 21693375 21693375 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:21693375G>A uc001rfb.2 - 14 2033 c.1778C>T c.(1777-1779)TCA>TTA p.S593L NM_021957 NP_068776 P54840 GYS2_HUMAN glycogen synthase 2 593 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity lung(1)|skin(1) 2 CAGAAGATCTGAGAGCCTCTC 0.403 NaN 0 0 0 0.004656 0 26 160 IPO8 10526 broad.mit.edu 37 12 30833434 30833434 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:30833434G>C uc001rjd.2 - 5 791 c.621C>G c.(619-621)ATC>ATG p.I207M NM_006390 NP_006381 O15397 IPO8_HUMAN importin 8 207 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) GTGCATAAAAGATTTTCAGAA 0.289 NaN 0 0 0 0.004482 0 9 56 ARID2 196528 broad.mit.edu 37 12 46243532 46243532 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:46243532G>C uc001ros.1 + 14 1885 c.1885G>C c.(1885-1887)GAT>CAT p.D629H ARID2_uc001ror.2_Missense_Mutation_p.D629H|ARID2_uc009zkg.1_Missense_Mutation_p.D85H|ARID2_uc009zkh.1_Missense_Mutation_p.D256H|ARID2_uc001rou.1_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 629 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) TTCTGTTCCTGATGTATCTCC 0.343 NaN 0 0 0 0.003271 0 36 158 ARID2 196528 broad.mit.edu 37 12 46245434 46245434 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:46245434T>C uc001ros.1 + 15 3528 c.3528T>C c.(3526-3528)GTT>GTC p.V1176V ARID2_uc001ror.2_Silent_p.V1176V|ARID2_uc009zkg.1_Silent_p.V632V|ARID2_uc009zkh.1_Silent_p.V803V|ARID2_uc001rou.1_Silent_p.V510V NM_152641 NP_689854 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1176 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(6)|skin(3)|upper_aerodigestive_tract(1) 10 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CCATAACAGTTGTGCCAAATA 0.478 NaN 0 0 0 0.006214 0 10 76 ZNF641 121274 broad.mit.edu 37 12 48737057 48737057 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:48737057T>C uc001rrn.1 - 6 1181 c.1016A>G c.(1015-1017)CAG>CGG p.Q339R ZNF641_uc001rro.1_Missense_Mutation_p.Q325R|ZNF641_uc010sls.1_Missense_Mutation_p.Q316R NM_152320 NP_689533 Q96N77 ZN641_HUMAN zinc finger protein 641 339 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 ATGCACTCTCTGGTGGCTGGC 0.557 NaN 0 0 0 0.003954 0 25 81 C12orf54 121273 broad.mit.edu 37 12 48879982 48879982 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:48879982G>C uc001rrr.2 + 2 144 c.87G>C c.(85-87)ATG>ATC p.M29I C12orf54_uc009zky.1_RNA NM_152319 NP_689532 Q6X4T0 CL054_HUMAN hypothetical protein LOC121273 29 0 AAGAGACAATGAGACCACAGG 0.458 NaN 0 0 0 0.001855 0 12 63 MLL2 8085 broad.mit.edu 37 12 49444981 49444981 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 C G C C Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:49444981C>G uc001rta.3 - 10 2485 c.2485G>C c.(2485-2487)GAG>CAG p.E829Q NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 829 Pro-rich. Missing (in Ref. 1; AAC51734). 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 TGTGATTCCTCAGGTTGGGGG 0.632 NaN N|F|Mis medulloblastoma|renal HNSCC(34;0.089) 0 0 0 0.010729 0 11 49 HIGD1C 613227 broad.mit.edu 37 12 51347856 51347856 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:51347856C>A uc010smw.1 + 1 75 c.75C>A c.(73-75)GAC>GAA p.D25E NM_001109619 NP_001103089 A8MV81 HIG1C_HUMAN HIG1 domain family, member 1C 25 HIG1.|Cytoplasmic (Potential). integral to membrane 0 AATCTAGAGACTCCCCCTTTG 0.348 NaN 1 0 0.00621372 0.006214 0.00642191 9 82 ACVR1B 91 broad.mit.edu 37 12 52379062 52379062 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:52379062C>G uc001rzn.2 + 6 1108 c.1066C>G c.(1066-1068)CTG>GTG p.L356V ACVR1B_uc001rzl.2_Missense_Mutation_p.L356V|ACVR1B_uc001rzm.2_Missense_Mutation_p.L356V|ACVR1B_uc010snn.1_Missense_Mutation_p.L397V NM_004302 NP_004293 P36896 ACV1B_HUMAN activin A receptor, type IB isoform a precursor 356 Protein kinase.|Cytoplasmic (Potential). G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding pancreas(4)|breast(2)|ovary(1)|lung(1)|kidney(1) 9 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) AGACCTGGGCCTGGCTGTCCG 0.522 NaN 0 0 0 0.00245 0 14 64 RARG 5916 broad.mit.edu 37 12 53607931 53607931 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:53607931A>G uc001sce.2 - 7 1210 c.725T>C c.(724-726)GTG>GCG p.V242A RARG_uc001scd.2_Missense_Mutation_p.V231A|RARG_uc010sob.1_Missense_Mutation_p.V220A|RARG_uc001scf.2_Missense_Mutation_p.V242A|RARG_uc001scg.2_Missense_Mutation_p.V170A|RARG_uc010soc.1_Missense_Mutation_p.V121A|RARG_uc010sod.1_Missense_Mutation_p.V279A NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 242 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GGCAAACTCCACGATCTTGAT 0.557 NaN OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.003271 0 37 122 ESPL1 9700 broad.mit.edu 37 12 53673530 53673530 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:53673530G>A uc001sck.2 + 12 2470 c.2379G>A c.(2377-2379)CTG>CTA p.L793L ESPL1_uc001scj.2_Silent_p.L468L|ESPL1_uc010soe.1_Silent_p.L4L NM_012291 NP_036423 Q14674 ESPL1_HUMAN separase 793 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 TGCAGGCTCTGGAGGTCCTCC 0.597 NaN 0 0 0 0.006999 0 38 87 PAWR 5074 broad.mit.edu 37 12 79986470 79986470 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:79986470G>A uc001syx.2 - 7 1226 c.940C>T c.(940-942)CTA>TTA p.L314L NM_002583 NP_002574 Q96IZ0 PAWR_HUMAN PRKC, apoptosis, WT1, regulator 314 Leucine-zipper. actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity 0 ATGTCATCTAGGTCCTTAAGA 0.234 NaN 0 0 0 0.001984 0 6 23 ACSS3 79611 broad.mit.edu 37 12 81648681 81648681 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:81648681G>T uc001szl.1 + 16 2132 c.2041G>T c.(2041-2043)GAA>TAA p.E681* ACSS3_uc001szm.1_Nonsense_Mutation_p.E680*|ACSS3_uc001szn.1_Nonsense_Mutation_p.E363* NM_024560 NP_078836 Q9H6R3 ACSS3_HUMAN acyl-CoA synthetase short-chain family member 3 681 mitochondrion acetate-CoA ligase activity|ATP binding ovary(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CCACGTAGAAGAAATGCTGAA 0.308 NaN 1 0 1.12685e-05 0.004482 1.2279e-05 9 65 POLR3B 55703 broad.mit.edu 37 12 106820975 106820975 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:106820975C>T uc001tlp.2 + 13 1324 c.1102C>T c.(1102-1104)CTT>TTT p.L368F POLR3B_uc001tlq.2_Missense_Mutation_p.L310F NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 368 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 TTTTTTTTAGCTTTTATCTCT 0.274 NaN 0 0 0 0.001984 0 5 11 CUX2 23316 broad.mit.edu 37 12 111779715 111779715 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:111779715G>T uc001tsa.1 + 21 3670 c.3517G>T c.(3517-3519)GTG>TTG p.V1173L NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1173 Homeobox. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 GAAGCCCCGGGTGGTGCTGGC 0.662 NaN 1 0 5.16669e-11 0.010729 6.02279e-11 12 58 RPL6 6128 broad.mit.edu 37 12 112846122 112846122 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:112846122C>G uc001ttu.2 - 3 487 c.258G>C c.(256-258)GAG>GAC p.E86D RPL6_uc001ttv.2_Missense_Mutation_p.E86D|RPL6_uc009zwd.1_3'UTR NM_001024662 NP_001019833 Q02878 RL6_HUMAN ribosomal protein L6 86 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome large_intestine(1) 1 CGAGAACCTTCTCCTTCTTTT 0.433 NaN 0 0 0 0.00245 0 15 97 OAS2 4939 broad.mit.edu 37 12 113445538 113445538 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:113445538C>G uc001tuj.2 + 9 1825 c.1685C>G c.(1684-1686)TCT>TGT p.S562C OAS2_uc001tui.1_Missense_Mutation_p.S562C NM_016817 NP_058197 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2 isoform 1 562 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding ovary(1) 1 CCAAAGGGGTCTTTGCCCCCA 0.547 NaN 0 0 0 0.006122 0 19 108 SACS 26278 broad.mit.edu 37 13 23904689 23904689 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:23904689G>T uc001uon.2 - 10 13915 c.13326C>A c.(13324-13326)GGC>GGA p.G4442G SACS_uc001uoo.2_Silent_p.G4295G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 4442 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) CCACTGGATTGCCAACCGACT 0.468 NaN 1 0 3.90053e-15 0.012213 4.65509e-15 29 112 SLC7A1 6541 broad.mit.edu 37 13 30107006 30107006 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:30107006C>G uc001uso.2 - 4 871 c.484G>C c.(484-486)GAA>CAA p.E162Q NM_003045 NP_003036 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid 162 Extracellular (Potential). cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity 0 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) TCGGGGTTTTCAGCCAGCACG 0.547 NaN 0 0 0 0.014323 0 21 77 FRY 10129 broad.mit.edu 37 13 32841467 32841467 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:32841467A>C uc001utx.2 + 55 8603 c.8107A>C c.(8107-8109)ACA>CCA p.T2703P FRY_uc010tdw.1_RNA|FRY_uc001uty.2_Missense_Mutation_p.T258P|FRY_uc001utz.2_Missense_Mutation_p.T228P|FRY_uc010tdx.1_Missense_Mutation_p.T73P NM_023037 NP_075463 Q5TBA9 FRY_HUMAN furry homolog 2703 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane ovary(5)|large_intestine(1)|skin(1) 7 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) TGCTGTGTATACATTTCATGT 0.512 NaN 0 0 0 0.004482 0 8 58 BRCA2 675 broad.mit.edu 37 13 32945213 32945213 + Nonsense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:32945213C>T uc001uub.1 + 20 8835 c.8608C>T c.(8608-8610)CAG>TAG p.Q2870* NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 2870 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) CACTAAAATTCAGGAGGAATT 0.318 NaN D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 0 0 0 0.013537 0 12 51 MAB21L1 4081 broad.mit.edu 37 13 36049441 36049441 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:36049441A>G uc001uvc.2 - 1 1392 c.835T>C c.(835-837)TCC>CCC p.S279P NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN mab-21-like protein 1 279 anatomical structure morphogenesis nucleus ovary(2) 2 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CACTCGTAGGAAACCAGAGTC 0.522 NaN 0 0 0 0.006214 0 10 80 POSTN 10631 broad.mit.edu 37 13 38153448 38153448 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:38153448C>G uc001uwo.3 - 13 1827 c.1709G>C c.(1708-1710)GGA>GCA p.G570A POSTN_uc010tet.1_Missense_Mutation_p.G98A|POSTN_uc001uwp.3_Missense_Mutation_p.G570A|POSTN_uc001uwr.2_Missense_Mutation_p.G570A|POSTN_uc001uwq.2_Missense_Mutation_p.G570A|POSTN_uc010teu.1_Missense_Mutation_p.G570A|POSTN_uc010tev.1_Missense_Mutation_p.G570A|POSTN_uc010tew.1_Missense_Mutation_p.G570A|POSTN_uc010tex.1_Missense_Mutation_p.G485A NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 570 FAS1 4. cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) AATGAAAACTCCTGGTGTCAG 0.318 NaN 0 0 0 0.001855 0 14 74 INTS6 26512 broad.mit.edu 37 13 51950240 51950240 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:51950240C>G uc001vfk.2 - 13 2287 c.1673G>C c.(1672-1674)AGA>ACA p.R558T INTS6_uc001vfi.2_Missense_Mutation_p.R242T|INTS6_uc001vfj.2_Missense_Mutation_p.R545T|INTS6_uc001vfl.2_Missense_Mutation_p.R380T NM_012141 NP_036273 Q9UL03 INT6_HUMAN integrator complex subunit 6 isoform a 558 snRNA processing actin cytoskeleton|integrator complex protein binding|transmembrane receptor activity ovary(1)|lung(1) 2 Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;7.7e-08) AGATCTCATTCTTGTTAAGTG 0.323 NaN 0 0 0 0.013537 0 13 28 RNF113B 140432 broad.mit.edu 37 13 98828982 98828982 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:98828982C>T uc001vnk.2 - 1 540 c.509G>A c.(508-510)GGG>GAG p.G170E FARP1_uc001vnh.2_Intron|FARP1_uc001vni.2_Intron|FARP1_uc001vnj.2_Intron NM_178861 NP_849192 Q8IZP6 R113B_HUMAN ring finger protein 113B 170 nucleic acid binding|zinc ion binding ovary(1)|central_nervous_system(1)|skin(1) 3 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.13) CCTCGCCATCCCCGAGGAGGA 0.632 NaN 0 0 0 0.001984 0 7 30 DAOA 267012 broad.mit.edu 37 13 106124975 106124975 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr13:106124975G>C uc001vqb.2 + 3 496 c.222G>C c.(220-222)CAG>CAC p.Q74H DAOA_uc010tjf.1_Missense_Mutation_p.Q3H|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Missense_Mutation_p.R10T|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 74 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AAATGGCACAGAGGCATTTAC 0.428 NaN 0 0 0 0.001168 0 6 39 SUPT16H 11198 broad.mit.edu 37 14 21821928 21821928 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:21821928C>T uc001wao.2 - 24 3193 c.2854G>A c.(2854-2856)GAA>AAA p.E952K SUPT16H_uc001wan.2_Missense_Mutation_p.E96K NM_007192 NP_009123 Q9Y5B9 SP16H_HUMAN chromatin-specific transcription elongation 952 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding 0 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TAGTCATCTTCTGAAGGATTA 0.408 NaN 0 0 0 0.00308 0 7 86 C14orf21 161424 broad.mit.edu 37 14 24769358 24769358 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:24769358C>T uc001wol.1 + 1 261 c.198C>T c.(196-198)CGC>CGT p.R66R C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.1_5'Flank|DHRS1_uc001wok.2_5'Flank NM_174913 NP_777573 Q86U38 CN021_HUMAN hypothetical protein LOC161424 66 RNA binding breast(2)|central_nervous_system(1)|skin(1) 4 GBM - Glioblastoma multiforme(265;0.0185) GATATTTCCGCCGGGCGCTGT 0.637 NaN 0 0 0 0.010729 0 12 92 PELI2 57161 broad.mit.edu 37 14 56746399 56746399 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:56746399C>G uc001xch.2 + 3 499 c.213C>G c.(211-213)ATC>ATG p.I71M NM_021255 NP_067078 Q9HAT8 PELI2_HUMAN pellino 2 71 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol protein binding ovary(1) 1 attaGGCTATCAGCTGCAAAG 0.373 NaN 0 0 0 0.00245 0 15 54 VTI1B 10490 broad.mit.edu 37 14 68129250 68129250 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:68129250C>T uc001xjt.2 - 2 514 c.118G>A c.(118-120)GAA>AAA p.E40K VTI1B_uc010aqp.2_5'UTR|VTI1B_uc001xju.2_Intron NM_006370 NP_006361 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with 40 Potential.|Cytoplasmic (Potential). cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane 0 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) TTCTTCTTTTCTTCTAGAAAA 0.224 NaN 0 0 0 0.001168 0 6 35 LTBP2 4053 broad.mit.edu 37 14 75018986 75018986 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:75018986C>G uc001xqa.2 - 6 1690 c.1303G>C c.(1303-1305)GAC>CAC p.D435H NM_000428 NP_000419 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding 435 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding liver(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GGCTCCCTGTCCGGCTGCGGG 0.672 NaN 0 0 0 0.000602 0 4 51 YLPM1 56252 broad.mit.edu 37 14 75230761 75230761 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:75230761C>G uc001xqj.3 + 1 693 c.569C>G c.(568-570)TCC>TGC p.S190C NM_019589 NP_062535 P49750 YLPM1_HUMAN YLP motif containing 1 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck ovary(2)|pancreas(1) 3 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) GCTCAGCCGTCCCCTTCGCAG 0.597 NaN 0 0 0 0.004482 0 8 42 ATXN3 4287 broad.mit.edu 37 14 92537344 92537344 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:92537344G>T uc001yac.3 - 10 995 c.926C>A c.(925-927)TCA>TAA p.S309* ATXN3_uc010aug.2_Nonsense_Mutation_p.S294*|ATXN3_uc001yad.3_Nonsense_Mutation_p.S254*|ATXN3_uc010auh.2_Nonsense_Mutation_p.S243*|ATXN3_uc001yae.3_Nonsense_Mutation_p.S211* NM_004993 NP_004984 P54252 ATX3_HUMAN ataxin 3 reference isoform 309 cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding 0 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) ACTCTGTCCTGATAGGTCCCC 0.343 NaN 1 0 2.47511e-08 0.008361 2.82769e-08 32 39 BTBD7 55727 broad.mit.edu 37 14 93709011 93709011 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr14:93709011C>A uc001ybo.2 - 11 3333 c.3007G>T c.(3007-3009)GAA>TAA p.E1003* BTBD7_uc010aur.2_Nonsense_Mutation_p.E528*|BTBD7_uc010two.1_Nonsense_Mutation_p.E823*|BTBD7_uc001ybp.2_Nonsense_Mutation_p.E652* NM_001002860 NP_001002860 Q9P203 BTBD7_HUMAN BTB (POZ) domain containing 7 isoform 1 1003 pancreas(1) 1 all_cancers(154;0.08) Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223) CTAGCTTCTTCCTGTTTTTTA 0.493 NaN 1 0 2.5401e-28 0.01441 3.05879e-28 59 87 C15orf2 23742 broad.mit.edu 37 15 24922473 24922473 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:24922473G>T uc001ywo.2 + 1 1933 c.1459G>T c.(1459-1461)GTC>TTC p.V487F NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 487 Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) TTATAATTCAGTCGTAGGAGC 0.507 NaN 1 0 8.34094e-07 0.008871 9.29088e-07 21 167 NDUFAF1 51103 broad.mit.edu 37 15 41687143 41687143 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:41687143C>A uc001znx.2 - 3 1055 c.673G>T c.(673-675)GAG>TAG p.E225* NDUFAF1_uc010bcf.2_RNA NM_016013 NP_057097 Q9Y375 CIA30_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha 225 mitochondrial electron transport, NADH to ubiquinone|protein complex assembly mitochondrial respiratory chain complex I unfolded protein binding ovary(1) 1 all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143) OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114) TCTGTGTCCTCCTTGATATTC 0.488 NaN 1 0 3.07112e-06 0.010729 3.39261e-06 12 39 TP53BP1 7158 broad.mit.edu 37 15 43738684 43738684 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:43738684C>T uc001zrs.2 - 14 3074 c.2926G>A c.(2926-2928)GGG>AGG p.G976R TP53BP1_uc010udp.1_Missense_Mutation_p.G976R|TP53BP1_uc001zrq.3_Missense_Mutation_p.G981R|TP53BP1_uc001zrr.3_Missense_Mutation_p.G981R|TP53BP1_uc010udq.1_Missense_Mutation_p.G981R NM_005657 NP_005648 Q12888 TP53B_HUMAN tumor protein p53 binding protein 1 isoform 3 976 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity ovary(2)|skin(2)|large_intestine(1)|pancreas(1)|kidney(1) 7 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GGGGCAGCCCCAGAATCCCCT 0.473 NaN Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes 0 0 0 0.009535 0 29 76 DUT 1854 broad.mit.edu 37 15 48626677 48626677 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:48626677G>A uc001zws.2 + 3 575 c.483G>A c.(481-483)GCG>GCA p.A161A DUT_uc001zwt.2_Silent_p.A50A|DUT_uc001zwu.2_RNA|DUT_uc001zwv.2_Silent_p.A73A|DUT_uc001zww.2_Silent_p.A73A|uc010ben.1_5'Flank NM_001025248 NP_001020419 P33316 DUT_HUMAN deoxyuridine triphosphatase isoform 1 precursor 161 DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process mitochondrion|nucleoplasm dUTP diphosphatase activity|protein binding 0 all_lung(180;0.00265) all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07) TTCAGATAGCGCTCCCTTCTG 0.363 NaN Modulation_of_nucleotide_pools 0 0 0 0.001168 0 6 39 C15orf33 196951 broad.mit.edu 37 15 49800544 49800544 + Silent SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:49800544A>C uc001zxl.2 - 11 1170 c.876T>G c.(874-876)GGT>GGG p.G292G C15orf33_uc001zxm.2_Silent_p.G258G NM_152647 NP_689860 Q96M60 CO033_HUMAN hypothetical protein LOC196951 292 ovary(1) 1 all_lung(180;0.00187) all cancers(107;3.45e-08)|GBM - Glioblastoma multiforme(94;0.000124) GAGGTTTTAAACCTGTTAATA 0.303 NaN 0 0 0 0.001168 0 6 44 AP4E1 23431 broad.mit.edu 37 15 51289655 51289655 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:51289655G>A uc001zyx.1 + 18 2509 c.2479G>A c.(2479-2481)GAA>AAA p.E827K AP4E1_uc010bex.1_RNA NM_007347 NP_031373 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 827 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity 0 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) TGTGGCATATGAAGATGATTA 0.353 NaN 0 0 0 0.004482 0 9 55 KIAA1370 56204 broad.mit.edu 37 15 52902491 52902491 + Missense_Mutation SNP A A G rs61731677 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:52902491A>G uc002acg.3 - 6 773 c.620T>C c.(619-621)GTT>GCT p.V207A KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.V119A|KIAA1370_uc010ugf.1_Missense_Mutation_p.V214A NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 207 V -> A (in Ref. 2; BAF85606). 0 all cancers(107;0.0803) TTTCAAGGCAACATTGTGAGA 0.393 NaN 0 0 0 0.009096 0 4 64 MPI 4351 broad.mit.edu 37 15 75190013 75190013 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:75190013C>T uc002azc.1 + 8 1219 c.1214C>T c.(1213-1215)TCA>TTA p.S405L MPI_uc002azd.1_3'UTR|MPI_uc010ulx.1_Missense_Mutation_p.S355L|MPI_uc002aze.1_Missense_Mutation_p.S344L NM_002435 NP_002426 P34949 MPI_HUMAN mannose-6- phosphate isomerase 405 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding ovary(2) 2 GAGAGTGTCTCACTGAAGCTT 0.562 NaN 0 0 0 0.009096 0 4 46 FAH 2184 broad.mit.edu 37 15 80467381 80467381 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:80467381G>T uc002bfj.2 + 11 943 c.861G>T c.(859-861)CTG>CTT p.L287L FAH_uc002bfk.1_Silent_p.L287L|FAH_uc002bfm.1_Silent_p.L287L|FAH_uc002bfn.1_Silent_p.L217L|FAH_uc010bln.1_5'Flank|FAH_uc010blo.1_5'Flank NM_000137 NP_000128 P16930 FAAA_HUMAN fumarylacetoacetase 287 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding 0 TGCCGTATCTGTGCCATGACG 0.587 NaN Tyrosinemia_type_1 1 0 1.12685e-05 0.004482 1.2279e-05 8 47 AKAP13 11214 broad.mit.edu 37 15 86273898 86273898 + Silent SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:86273898T>A uc002blv.1 + 30 7412 c.7242T>A c.(7240-7242)GCT>GCA p.A2414A AKAP13_uc002blu.1_Silent_p.A2418A|AKAP13_uc002blw.1_Silent_p.A879A|AKAP13_uc002blx.1_Silent_p.A659A NM_007200 NP_009131 Q12802 AKP13_HUMAN A-kinase anchor protein 13 isoform 2 2414 Interaction with ESR1. 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|membrane|membrane fraction|nucleus cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity central_nervous_system(3)|kidney(2)|urinary_tract(1)|liver(1)|skin(1)|ovary(1) 9 CAGAAGAGGCTCTCAAAGGAG 0.478 NaN OREG0023425 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.00499 0 17 73 ACAN 176 broad.mit.edu 37 15 89391184 89391184 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:89391184G>A uc010upo.1 + 9 2021 c.1647G>A c.(1645-1647)AAG>AAA p.K549K ACAN_uc002bmx.2_Silent_p.K549K|ACAN_uc010upp.1_Silent_p.K549K|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 549 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGGGTGACAAGGACAGCAGCC 0.572 NaN 0 0 0 0.004482 0 9 72 IGF1R 3480 broad.mit.edu 37 15 99491937 99491937 + Missense_Mutation SNP T T G rs45504297 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr15:99491937T>G uc002bul.2 + 20 3772 c.3722T>G c.(3721-3723)CTG>CGG p.L1241R IGF1R_uc010bon.2_Missense_Mutation_p.L1240R NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 1241 Protein kinase.|Cytoplasmic (Potential). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CCTGACATGCTGTACGTACTT 0.537 NaN 0 0 0 0.00308 0 7 71 NARFL 64428 broad.mit.edu 37 16 786283 786283 + Nonsense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:786283G>C uc002cjr.2 - 4 434 c.422C>G c.(421-423)TCA>TGA p.S141* NARFL_uc002cjp.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjq.2_Nonsense_Mutation_p.S39*|NARFL_uc002cjs.2_Intron|NARFL_uc010brc.1_Intron|NARFL_uc010uur.1_Intron NM_022493 NP_071938 Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like 141 iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding 0 Hepatocellular(780;0.0218) TTTAAAGAATGAGGTTAATTT 0.522 NaN 0 0 0 0.001984 0 7 54 PRR14 78994 broad.mit.edu 37 16 30665636 30665636 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:30665636G>C uc002dyy.2 + 7 892 c.634G>C c.(634-636)GAC>CAC p.D212H PRR14_uc002dyz.2_Missense_Mutation_p.D57H|PRR14_uc002dza.2_Missense_Mutation_p.D212H|PRR14_uc002dzb.1_Missense_Mutation_p.D26H NM_024031 NP_076936 Q9BWN1 PRR14_HUMAN proline rich 14 212 Pro-rich. 0 Colorectal(24;0.103) TCTGCCTGCAGACCCTCTGGA 0.577 NaN 0 0 0 0.00623 0 40 128 ATP6V0D1 9114 broad.mit.edu 37 16 67514921 67514921 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:67514921C>T uc002ete.1 - 1 169 c.69G>A c.(67-69)CTG>CTA p.L23L ATP6V0D1_uc010vjo.1_Silent_p.L23L NM_004691 NP_004682 P61421 VA0D1_HUMAN ATPase, H+ transporting, lysosomal, V0 subunit 23 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101) CCCCGGCCTTCAGGCCGCGCA 0.652 NaN 0 0 0 0.003163 0 15 44 FAM65A 79567 broad.mit.edu 37 16 67578265 67578265 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:67578265C>T uc010vjp.1 + 15 2820 c.2724C>T c.(2722-2724)CTC>CTT p.L908L FAM65A_uc002eth.2_Silent_p.L888L|FAM65A_uc010cej.2_Silent_p.L891L|FAM65A_uc010vjq.1_Silent_p.L902L|FAM65A_uc002etk.2_Silent_p.L886L NM_024519 NP_078795 Q6ZS17 FA65A_HUMAN hypothetical protein LOC79567 892 cytoplasm binding ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) CCCGCCCCCTCAGCACGGGGT 0.652 NaN 0 0 0 0.00632 0 28 73 ZC3H18 124245 broad.mit.edu 37 16 88643559 88643559 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr16:88643559G>C uc002fky.2 + 2 228 c.28G>C c.(28-30)GAT>CAT p.D10H ZC3H18_uc010voy.1_Missense_Mutation_p.D10H|ZC3H18_uc010voz.1_Missense_Mutation_p.D10H|ZC3H18_uc010vpa.1_Missense_Mutation_p.D10H NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 10 nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) CCCTGAACGGGATCCTCACTC 0.547 NaN 0 0 0 0.001984 0 7 42 ANKFY1 51479 broad.mit.edu 37 17 4080500 4080500 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:4080500G>A uc002fxq.1 - 19 2734 c.2696C>T c.(2695-2697)TCA>TTA p.S899L ANKFY1_uc002fxn.2_Missense_Mutation_p.S941L|ANKFY1_uc002fxo.2_Missense_Mutation_p.S900L|ANKFY1_uc002fxp.2_Missense_Mutation_p.S898L|ANKFY1_uc010ckp.2_Missense_Mutation_p.S841L NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 899 ANK 16. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 CTGGACTCTTGAATTCACATT 0.473 NaN 0 0 0 0.004656 0 27 47 ANKFY1 51479 broad.mit.edu 37 17 4080558 4080558 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:4080558G>A uc002fxq.1 - 19 2676 c.2638C>T c.(2638-2640)CAG>TAG p.Q880* ANKFY1_uc002fxn.2_Nonsense_Mutation_p.Q922*|ANKFY1_uc002fxo.2_Nonsense_Mutation_p.Q881*|ANKFY1_uc002fxp.2_Nonsense_Mutation_p.Q879*|ANKFY1_uc010ckp.2_Nonsense_Mutation_p.Q822* NM_016376 NP_057460 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 880 ANK 16. endosome membrane metal ion binding|protein binding ovary(2)|skin(1) 3 TCAGAGTTCTGAACTGCCACA 0.473 NaN 0 0 0 0.005443 0 28 53 DNAH2 146754 broad.mit.edu 37 17 7710807 7710807 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:7710807G>C uc002giu.1 + 62 9646 c.9632G>C c.(9631-9633)CGG>CCG p.R3211P DNAH2_uc010cnm.1_Missense_Mutation_p.R149P NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3211 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CGGCTATATCGGGTGGTGGAG 0.642 NaN 0 0 0 0.001168 0 5 53 RAD51L3 5892 broad.mit.edu 37 17 33427979 33427979 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:33427979T>G uc002hir.2 - 10 1236 c.980A>C c.(979-981)CAG>CCG p.Q327P RFFL_uc002hiq.2_Intron|RAD51L3_uc010ctj.2_3'UTR|RAD51L3_uc010wcd.1_Missense_Mutation_p.Q347P|RAD51L3_uc002his.2_Missense_Mutation_p.Q215P|RAD51L3_uc010ctk.2_Missense_Mutation_p.Q208P|RAD51L3_uc010wce.1_Missense_Mutation_p.Q208P|RAD51L3_uc002hit.2_Missense_Mutation_p.Q208P|RAD51L3_uc002hiu.2_Missense_Mutation_p.Q150P NM_002878 NP_002869 O75771 RA51D_HUMAN RAD51-like 3 isoform 1 327 DNA repair|reciprocal meiotic recombination nucleus ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding 0 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) AGGTCATGTCTGATCACCCTG 0.532 NaN Direct_reversal_of_damage|Homologous_recombination 0 0 0 0.00499 0 16 61 MRM1 79922 broad.mit.edu 37 17 34958603 34958603 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:34958603G>C uc002hne.2 + 1 579 c.364G>C c.(364-366)GAG>CAG p.E122Q MRM1_uc002hnf.2_5'UTR NM_024864 NP_079140 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog 122 RNA processing mitochondrion RNA binding|RNA methyltransferase activity 0 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TGTCTGCATGGAGGTGAGCCC 0.682 NaN 0 0 0 0.004672 0 3 35 ACACA 31 broad.mit.edu 37 17 35591979 35591979 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:35591979C>G uc002hnm.2 - 25 3237 c.3046G>C c.(3046-3048)GAG>CAG p.E1016Q ACACA_uc002hnk.2_Missense_Mutation_p.E938Q|ACACA_uc002hnl.2_Missense_Mutation_p.E958Q|ACACA_uc002hnn.2_Missense_Mutation_p.E1016Q|ACACA_uc002hno.2_Missense_Mutation_p.E1053Q|ACACA_uc010cuz.2_Missense_Mutation_p.E1016Q NM_198836 NP_942133 Q13085 ACACA_HUMAN acetyl-Coenzyme A carboxylase alpha isoform 2 1016 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding large_intestine(1)|ovary(1) 2 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) CTTTTATTCTCTTCTCGGAGG 0.398 NaN 0 0 0 0.006122 0 19 57 MED1 5469 broad.mit.edu 37 17 37599809 37599809 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:37599809G>T uc002hrv.3 - 3 417 c.205C>A c.(205-207)CTC>ATC p.L69I MED1_uc010wee.1_5'UTR|MED1_uc002hru.2_Missense_Mutation_p.L69I NM_004774 NP_004765 Q15648 MED1_HUMAN mediator complex subunit 1 69 Interaction with ESR1.|Interaction with the Mediator complex and THRA. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding lung(2)|ovary(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 8 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) AAACCTTTGAGAGCCTTCTGC 0.398 NaN HNSCC(31;0.082) 1 0 0.00448238 0.004482 0.00466866 8 49 G6PC 2538 broad.mit.edu 37 17 41063350 41063350 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:41063350C>T uc002icb.1 + 5 1060 c.981C>T c.(979-981)TTC>TTT p.F327F G6PC_uc010whf.1_3'UTR NM_000151 NP_000142 P35575 G6PC_HUMAN glucose-6-phosphatase, catalytic subunit 327 Helical; (Potential). Missing (in GSD1A). gluconeogenesis|glucose homeostasis|transmembrane transport integral to endoplasmic reticulum membrane glucose-6-phosphatase activity|phosphate binding ovary(1)|breast(1)|kidney(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.113) TCTTGTCCTTCTGCAAGAGTG 0.577 NaN Glycogen_Storage_Disease_type_Ia 0 0 0 0.010729 0 10 117 AARSD1 80755 broad.mit.edu 37 17 41105755 41105755 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:41105755C>G uc002icc.2 - 10 997 c.994G>C c.(994-996)GAG>CAG p.E332Q AARSD1_uc002icd.2_Missense_Mutation_p.E445Q|AARSD1_uc002ice.2_Missense_Mutation_p.E415Q|AARSD1_uc002icf.2_Missense_Mutation_p.E506Q|AARSD1_uc010whg.1_Missense_Mutation_p.E506Q NM_025267 NP_079543 Q9BTE6 AASD1_HUMAN alanyl-tRNA synthetase domain containing 1 332 alanyl-tRNA aminoacylation cytoplasm alanine-tRNA ligase activity|ATP binding|metal ion binding|nucleic acid binding 0 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) GACCCAATCTCATTGGCAATG 0.502 NaN 0 0 0 0.00308 0 8 54 BRCA1 672 broad.mit.edu 37 17 41203122 41203122 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:41203122G>T uc002icq.2 - 20 5522 c.5290C>A c.(5290-5292)CTA>ATA p.L1764I BRCA1_uc010whp.1_Missense_Mutation_p.L613I|BRCA1_uc010whl.1_Missense_Mutation_p.L660I|BRCA1_uc010whm.1_Missense_Mutation_p.L74I|BRCA1_uc002icp.3_Missense_Mutation_p.L1693I|BRCA1_uc002icu.2_Missense_Mutation_p.L660I|BRCA1_uc010cyx.2_Missense_Mutation_p.L1717I|BRCA1_uc002ict.2_Missense_Mutation_p.L1785I|BRCA1_uc010whn.1_Missense_Mutation_p.L255I|BRCA1_uc010who.1_Intron NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1764 BRCT 2. L -> P (in BC; unknown pathological significance). androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) CAGATTTCTAGCCCCCTGAAG 0.463 NaN D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 1 0 0.00307968 0.00308 0.00322442 8 40 IMP5 162540 broad.mit.edu 37 17 43923859 43923859 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:43923859G>A uc010wka.1 + 1 1587 c.1587G>A c.(1585-1587)CAG>CAA p.Q529Q LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 529 Extracellular (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) GGACTGGCCAGGGCAGAGCTA 0.632 NaN 0 0 0 0.008291 0 11 55 METTL2A 339175 broad.mit.edu 37 17 60501649 60501649 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:60501649G>T uc002izv.2 + 2 198 c.180G>T c.(178-180)CAG>CAT p.Q60H METTL2A_uc002izw.2_5'UTR NM_181725 NP_859076 Q96IZ6 MTL2A_HUMAN methyltransferase like 2A 60 methyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(2;1.08e-10) ACAGTATCCAGCGGGTGTGCC 0.592 NaN OREG0024635 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 0.00024832 0.009096 0.000263429 3 30 TLK2 11011 broad.mit.edu 37 17 60629727 60629727 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:60629727A>G uc010ddp.2 + 8 864 c.596A>G c.(595-597)AAA>AGA p.K199R TLK2_uc002izx.3_Missense_Mutation_p.K47R|TLK2_uc002izz.3_Missense_Mutation_p.K199R|TLK2_uc002jaa.3_Missense_Mutation_p.K167R|TLK2_uc010wpd.1_Missense_Mutation_p.K167R NM_006852 NP_006843 Q86UE8 TLK2_HUMAN tousled-like kinase 2 isoform A 199 cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity stomach(1)|kidney(1) 2 AGCTCCCAAAAACAGATCTCC 0.478 NaN 0 0 0 0.004482 0 5 25 GNA13 10672 broad.mit.edu 37 17 63010911 63010911 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:63010911T>C uc002jfc.2 - 4 807 c.598A>G c.(598-600)AGA>GGA p.R200G GNA13_uc010wqh.1_Missense_Mutation_p.R105G NM_006572 NP_006563 Q14344 GNA13_HUMAN guanine nucleotide binding protein (G protein), 200 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 GTGGGTCTTCTGGCAAGCAGA 0.353 NaN 0 0 0 0.008871 0 19 49 AMZ2 51321 broad.mit.edu 37 17 66247008 66247008 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:66247008C>G uc002jgs.1 + 4 474 c.357C>G c.(355-357)TTC>TTG p.F119L AMZ2_uc002jgr.1_Missense_Mutation_p.F119L|AMZ2_uc002jgt.1_Missense_Mutation_p.F119L|AMZ2_uc002jgu.1_Missense_Mutation_p.F119L|AMZ2_uc002jgv.1_Missense_Mutation_p.F119L|AMZ2_uc002jgw.1_Intron|AMZ2_uc002jgy.1_Missense_Mutation_p.F119L NM_001033572 NP_001028744 Q86W34 AMZ2_HUMAN archaemetzincins-2 isoform 1 119 metallopeptidase activity|zinc ion binding 0 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) AAGCATATTTCTATGGCTTGA 0.368 NaN 0 0 0 0.00308 0 8 59 C17orf77 146723 broad.mit.edu 37 17 72588357 72588358 + Missense_Mutation DNP CC CC AG TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:72588357_72588358CC>AG uc002jla.1 + 3 534_535 c.172_173CC>AG c.(172-174)CCT>AGT p.P58S CD300LD_uc002jkz.2_5'UTR NM_152460 NP_689673 Q96MU5 CQ077_HUMAN hypothetical protein LOC146723 58 extracellular region 0 TGTCTCCTCTCCTCTCCTTGGT 0.55 NaN 0 0 0 0.004672 0 11 52 USH1G 124590 broad.mit.edu 37 17 72915769 72915769 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:72915769C>T uc002jme.1 - 2 1345 c.1162G>A c.(1162-1164)GAG>AAG p.E388K USH1G_uc010wro.1_Missense_Mutation_p.E285K NM_173477 NP_775748 Q495M9 USH1G_HUMAN Usher syndrome 1G protein 388 SAM. equilibrioception|photoreceptor cell maintenance|sensory perception of sound actin cytoskeleton skin(2) 2 all_lung(278;0.172)|Lung NSC(278;0.207) GGGCTAGTCTCGGGCTCCAGG 0.632 NaN 0 0 0 0.00308 0 7 41 CASKIN2 57513 broad.mit.edu 37 17 73498743 73498743 + Silent SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:73498743A>T uc002joc.2 - 18 2962 c.2412T>A c.(2410-2412)CCT>CCA p.P804P CASKIN2_uc010wsc.1_Silent_p.P722P NM_020753 NP_065804 Q8WXE0 CSKI2_HUMAN cask-interacting protein 2 isoform a 804 Pro-rich. cytoplasm pancreas(1) 1 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154) CTGTGGGGCCAGGGCGGCTTA 0.711 NaN 0 0 0 0.004672 0 3 6 UNK 85451 broad.mit.edu 37 17 73780818 73780818 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:73780818G>A uc002jpm.2 + 2 85 c.85G>A c.(85-87)GAA>AAA p.E29K UNK_uc002jpn.2_RNA|UNK_uc002jpo.2_RNA NM_001080419 NP_001073888 Q9C0B0 UNK_HUMAN zinc finger CCCH-type domain containing 5 Error:Variant_position_missing_in_Q9C0B0_after_alignment nucleic acid binding|zinc ion binding 0 all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154) GCCGGACATAGAACCACAACT 0.637 NaN 0 0 0 0.004672 0 3 21 EVPL 2125 broad.mit.edu 37 17 74005731 74005731 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:74005731C>T uc002jqi.2 - 22 3783 c.3555G>A c.(3553-3555)AAG>AAA p.K1185K EVPL_uc010wss.1_Silent_p.K1207K|EVPL_uc010wst.1_Silent_p.K655K NM_001988 NP_001979 Q92817 EVPL_HUMAN envoplakin 1185 Central fibrous rod domain.|Plectin 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity pancreas(2)|central_nervous_system(1)|skin(1) 4 TGGGCCTCTGCTTCTCCACCA 0.632 NaN 0 0 0 0.009096 0 4 57 THOC4 10189 broad.mit.edu 37 17 79846256 79846256 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:79846256C>G uc002kbu.2 - 5 647 c.641G>C c.(640-642)GGA>GCA p.G214A NM_005782 NP_005773 Q86V81 THOC4_HUMAN THO complex 4 207 Ala/Arg/Gly-rich. intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex nucleotide binding|protein binding|RNA binding 0 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) ACCAAAACCTCCAGCGCCACG 0.612 NaN 0 0 0 0.00308 0 8 15 LPIN2 9663 broad.mit.edu 37 18 2939525 2939525 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr18:2939525C>T uc002klo.2 - 6 1014 c.775G>A c.(775-777)GAG>AAG p.E259K NM_014646 NP_055461 Q92539 LPIN2_HUMAN lipin 2 259 fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process cytosol|endoplasmic reticulum membrane|nucleus phosphatidate phosphatase activity|transcription coactivator activity ovary(1)|skin(1) 2 READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156) ATGTGAGACTCTGATCTGAGC 0.512 NaN 0 0 0 0.00623 0 41 36 SLC14A1 6563 broad.mit.edu 37 18 43319618 43319618 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr18:43319618C>T uc010xcn.1 + 9 1256 c.937C>T c.(937-939)CTT>TTT p.L313F SLC14A1_uc010dnk.2_Missense_Mutation_p.L369F|SLC14A1_uc002lbf.3_Missense_Mutation_p.L313F|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Missense_Mutation_p.L208F|SLC14A1_uc002lbh.3_Missense_Mutation_p.L205F|SLC14A1_uc002lbi.3_Missense_Mutation_p.L181F|SLC14A1_uc002lbj.3_Missense_Mutation_p.L369F|SLC14A1_uc002lbk.3_Missense_Mutation_p.L313F NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 313 Helical; (Potential). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 CCTCCTGGCTCTTGGCTGTGG 0.468 NaN 0 0 0 0.004482 0 9 35 ELANE 1991 broad.mit.edu 37 19 855684 855684 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:855684C>T uc002lqb.2 + 4 525 c.487C>T c.(487-489)CGT>TGT p.R163C NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 163 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) GGGCAGGAACCGTGGGATCGC 0.706 NaN Kostmann_syndrome 0 0 0 0.010729 0 10 50 C19orf28 126321 broad.mit.edu 37 19 3548011 3548011 + Silent SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:3548011C>A uc002lxz.2 - 4 842 c.672G>T c.(670-672)GTG>GTT p.V224V C19orf28_uc002lxw.2_Silent_p.V224V|C19orf28_uc002lxx.2_Silent_p.V224V|C19orf28_uc002lxy.2_Silent_p.V215V NM_174983 NP_778148 Q6NUT3 CS028_HUMAN hypothetical protein LOC126321 isoform c 224 Helical; (Potential). transmembrane transport integral to membrane breast(1)|pancreas(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00251)|STAD - Stomach adenocarcinoma(1328;0.18) CGACACCCACCACCAGCAGGG 0.701 NaN 1 0 0.004672 0.004672 0.00484101 3 23 DNM2 1785 broad.mit.edu 37 19 10883223 10883223 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:10883223G>A uc002mps.1 + 3 468 c.304G>A c.(304-306)GAA>AAA p.E102K DNM2_uc010dxk.2_RNA|DNM2_uc002mpt.1_Missense_Mutation_p.E102K|DNM2_uc002mpv.1_Missense_Mutation_p.E102K|DNM2_uc002mpu.1_Missense_Mutation_p.E102K|DNM2_uc010dxl.1_Missense_Mutation_p.E102K NM_001005361 NP_001005361 P50570 DYN2_HUMAN dynamin 2 isoform 2 102 G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane GTP binding|GTPase activity|microtubule binding central_nervous_system(2)|skin(2)|ovary(1)|breast(1) 6 Epithelial(33;4.17e-05)|all cancers(31;8.48e-05) GCAGGAGATTGAAGCAGAGAC 0.522 NaN 0 0 0 0.001855 0 13 90 ZNF709 163051 broad.mit.edu 37 19 12595589 12595589 + Translation_Start_Site SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:12595589G>T uc002mtv.3 - 1 44 c.-117C>A c.(-119--115)CTCTG>CTATG ZNF709_uc002mtw.3_Intron|ZNF709_uc002mtx.3_Intron NM_152601 NP_689814 Q8N972 ZN709_HUMAN zinc finger protein 709 isoform a regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGAGACCCCAGAGCGGAGCGC 0.682 NaN 1 0 0.004672 0.004672 0.00484101 3 17 CC2D1A 54862 broad.mit.edu 37 19 14037643 14037643 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:14037643C>G uc002mxo.2 + 20 2382 c.2083C>G c.(2083-2085)CAG>GAG p.Q695E CC2D1A_uc002mxp.2_Missense_Mutation_p.Q695E|CC2D1A_uc010dzh.2_Missense_Mutation_p.Q264E|CC2D1A_uc002mxq.1_Missense_Mutation_p.Q340E NM_017721 NP_060191 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 695 C2. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity 0 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) GGAAGAAGCTCAGAAAGACAA 0.587 NaN 0 0 0 0.001855 0 14 46 OR7C1 26664 broad.mit.edu 37 19 14910225 14910225 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:14910225C>T uc010xnz.1 - 1 724 c.724G>A c.(724-726)GGT>AGT p.G242S NM_198944 NP_945182 O76099 OR7C1_HUMAN olfactory receptor, family 7, subfamily C, 242 Helical; Name=6; (Potential). sensory perception of smell|spermatogenesis integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 AGGTGGGAACCACAGGTGGAA 0.463 NaN 0 0 0 0.004482 0 9 78 CALR3 125972 broad.mit.edu 37 19 16601209 16601209 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:16601209C>T uc002ned.2 - 3 429 c.366G>A c.(364-366)CTG>CTA p.L122L MED26_uc002nee.2_Intron NM_145046 NP_659483 Q96L12 CALR3_HUMAN calreticulin 3 precursor 122 N-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding 0 ATTTTCCATTCAGGTTCTTCT 0.423 NaN 0 0 0 0.007291 0 26 55 C19orf62 29086 broad.mit.edu 37 19 17382464 17382464 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:17382464G>C uc002nfu.2 + 3 462 c.344G>C c.(343-345)GGC>GCC p.G115A C19orf62_uc010xpl.1_Missense_Mutation_p.G115A|C19orf62_uc002nfv.2_Missense_Mutation_p.G115A|C19orf62_uc010ean.2_Intron|C19orf62_uc002nfw.2_Missense_Mutation_p.G115A NM_014173 NP_054892 Q9NWV8 BABA1_HUMAN mediator of Rap80 interactions and targeting 40 115 VWFA-like. chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|protein K63-linked deubiquitination|response to ionizing radiation BRCA1-A complex|BRISC complex|cytoplasm protein binding p.G115V(1) ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 TCGTTCAACGGGTAAGAGGGA 0.532 NaN 0 0 0 0.009096 0 3 18 NCAN 1463 broad.mit.edu 37 19 19339266 19339266 + Nonsense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:19339266C>G uc002nlz.2 + 8 2936 c.2837C>G c.(2836-2838)TCA>TGA p.S946* NCAN_uc010ecc.1_Nonsense_Mutation_p.S510* NM_004386 NP_004377 O14594 NCAN_HUMAN chondroitin sulfate proteoglycan 3 precursor 946 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding ovary(4) 4 Epithelial(12;0.00544) TCAGTTTCCTCAGGGGAGCCT 0.647 NaN 0 0 0 0.004007 0 16 131 ZNF43 7594 broad.mit.edu 37 19 21992472 21992472 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:21992472C>T uc002nqj.2 - 4 497 c.367G>A c.(367-369)GAG>AAG p.E123K ZNF43_uc010ecv.2_Missense_Mutation_p.E117K|ZNF43_uc002nql.2_Missense_Mutation_p.E117K|ZNF43_uc002nqm.2_Missense_Mutation_p.E117K|ZNF43_uc002nqk.2_Missense_Mutation_p.E53K NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 123 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ACCTTACACTCATCCACACTT 0.338 NaN 0 0 0 0.001168 0 6 110 ANKRD27 84079 broad.mit.edu 37 19 33110200 33110200 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:33110200G>A uc002ntn.1 - 20 2129 c.1973C>T c.(1972-1974)TCA>TTA p.S658L NM_032139 NP_115515 Q96NW4 ANR27_HUMAN ankyrin repeat domain 27 (VPS9 domain) 658 early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(2)|skin(2)|pancreas(1) 5 Esophageal squamous(110;0.137) CTCCTGCCTTGAGCTGGCTGA 0.642 NaN 0 0 0 0.006214 0 7 102 KIAA0355 9710 broad.mit.edu 37 19 34818975 34818975 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:34818975C>G uc002nvd.3 + 6 1882 c.1023C>G c.(1021-1023)ACC>ACG p.T341T NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 341 ovary(1) 1 Esophageal squamous(110;0.162) AGCTCCCCACCGTCCCTGTGC 0.607 NaN 0 0 0 0.006122 0 18 91 ZNF146 7705 broad.mit.edu 37 19 36727883 36727883 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:36727883G>C uc002odq.3 + 4 2064 c.541G>C c.(541-543)GAG>CAG p.E181Q ZNF146_uc010eet.2_Missense_Mutation_p.E181Q|ZNF146_uc010eeu.2_Missense_Mutation_p.E181Q NM_007145 NP_009076 Q15072 OZF_HUMAN zinc finger protein 146 181 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding 0 Esophageal squamous(110;0.162) TCACACTGGAGAGAAACCCTA 0.393 NaN 0 0 0 0.01441 0 57 59 ZNF607 84775 broad.mit.edu 37 19 38189439 38189439 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:38189439T>G uc002ohc.1 - 5 2189 c.1593A>C c.(1591-1593)AGA>AGC p.R531S ZNF607_uc002ohb.1_Missense_Mutation_p.K530N NM_032689 NP_116078 Q96SK3 ZN607_HUMAN zinc finger protein 607 531 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) ATTCAAAGGGTTTCTTACCAC 0.403 NaN 0 0 0 0.01441 0 62 80 SAMD4B 55095 broad.mit.edu 37 19 39866329 39866329 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:39866329C>G uc002olb.2 + 7 1742 c.707C>G c.(706-708)TCC>TGC p.S236C SAMD4B_uc002ola.2_Missense_Mutation_p.S236C NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 236 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CTGAAGCGCTCCATGTCACTC 0.602 NaN 0 0 0 0.012319 0 23 244 SAMD4B 55095 broad.mit.edu 37 19 39868426 39868426 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:39868426G>A uc002olb.2 + 10 2441 c.1406G>A c.(1405-1407)GGA>GAA p.G469E SAMD4B_uc002ola.2_Missense_Mutation_p.G469E NM_018028 NP_060498 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 469 protein binding 0 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) GTCGCCGACGGAGACATCCCC 0.622 NaN 0 0 0 0.009096 0 4 52 TIMM50 92609 broad.mit.edu 37 19 39976916 39976916 + Silent SNP G G A rs62120692 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:39976916G>A uc002olu.1 + 7 1024 c.891G>A c.(889-891)ACG>ACA p.T297T TIMM50_uc002olt.1_RNA|TIMM50_uc002olv.1_5'UTR NM_001001563 NP_001001563 Q3ZCQ8 TIM50_HUMAN translocase of inner mitochondrial membrane 50 194 Mitochondrial intermembrane (Potential).|FCP1 homology. mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding ovary(1) 1 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) TCATCTTTACGTCAGAGACTG 0.552 NaN 0 0 0 0.009535 0 31 225 CEACAM7 1087 broad.mit.edu 37 19 42192066 42192066 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:42192066C>G uc002ori.1 - 1 31 c.29G>C c.(28-30)AGA>ACA p.R10T CEACAM7_uc010ehx.2_Missense_Mutation_p.R10T|CEACAM7_uc010ehy.1_Missense_Mutation_p.R10T NM_006890 NP_008821 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion 10 anchored to membrane|integral to membrane|plasma membrane ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) AATGCACACTCTGTATGGACA 0.617 NaN 0 0 0 0.00245 0 14 44 ZNF223 7766 broad.mit.edu 37 19 44571048 44571048 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:44571048C>T uc002oyf.1 + 5 1320 c.1067C>T c.(1066-1068)TCC>TTC p.S356F ZNF284_uc010ejd.2_RNA NM_013361 NP_037493 Q9UK11 ZN223_HUMAN zinc finger protein 223 356 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(69;0.0352) TTCAGACGGTCCTCCTATCTT 0.438 NaN 0 0 0 0.001984 0 7 139 CCDC9 26093 broad.mit.edu 37 19 47773894 47773894 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:47773894G>C uc010xym.1 + 10 1241 c.1034G>C c.(1033-1035)AGA>ACA p.R345T NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN coiled-coil domain containing 9 345 Poly-Arg. 0 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) AGCAGCCGCAGAAGGAGAAAG 0.672 NaN 0 0 0 0.000602 0 5 49 PNKP 11284 broad.mit.edu 37 19 50370408 50370408 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:50370408T>C uc002pqh.2 - 1 106 c.54A>G c.(52-54)GGA>GGG p.G18G PNKP_uc002pqg.2_5'Flank|PNKP_uc002pqi.2_5'UTR|PNKP_uc002pqj.2_Silent_p.G18G|PNKP_uc010enm.2_Silent_p.G18G|PNKP_uc002pqk.2_Silent_p.G18G NM_007254 NP_009185 Q96T60 PNKP_HUMAN polynucleotide kinase 3' phosphatase 18 G -> E (in Ref. 1; AAD51135). DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding ovary(1)|kidney(1) 2 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) TGGGGGGCGCTCCCCCAGGGG 0.711 NaN Other_BER_factors 0 0 0 0.010729 0 10 22 MYBPC2 4606 broad.mit.edu 37 19 50947074 50947074 + Splice_Site SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:50947074G>A uc002psf.2 + 11 1184 c.1133_splice c.e11+1 p.W378_splice NM_004533 NP_004524 Q14324 MYPC2_HUMAN myosin binding protein C, fast type cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) AGGTGATGTGGTAAGTGACCC 0.512 NaN 0 0 0 0.01441 0 50 61 CD33 945 broad.mit.edu 37 19 51728804 51728804 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:51728804G>T uc002pwa.2 + 2 408 c.368G>T c.(367-369)GGA>GTA p.G123V CD33_uc010eos.1_Missense_Mutation_p.G123V|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 123 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) ATGGAGAGAGGAAGTACCAAA 0.527 NaN 1 0 2.27111e-07 0.013537 2.55102e-07 13 52 ZSCAN5B 342933 broad.mit.edu 37 19 56701308 56701308 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:56701308C>T uc010ygh.1 - 4 1376 c.1376G>A c.(1375-1377)CGC>CAC p.R459H NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 459 C2H2-type 4. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 GGAGTGGGTGCGCTGGTGAAC 0.537 NaN 0 0 0 0.00278 0 25 24 PEG3 5178 broad.mit.edu 37 19 57335683 57335683 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr19:57335683C>G uc002qnu.2 - 1 692 c.341G>C c.(340-342)TGT>TCT p.C114S ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnr.2_5'UTR|ZIM2_uc002qnq.2_5'UTR|ZIM2_uc010etp.2_5'UTR|ZIM2_uc010ygs.1_5'UTR|PEG3_uc002qnt.2_Missense_Mutation_p.C114S|PEG3_uc002qnv.2_Missense_Mutation_p.C114S|PEG3_uc002qnw.2_5'UTR|PEG3_uc002qnx.2_5'UTR|PEG3_uc010etr.2_Missense_Mutation_p.C114S NM_001146186 NP_001139658 Q9GZU2 PEG3_HUMAN paternally expressed 3 isoform 1 114 SCAN box. apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GAGCTTCTCACAGTTCTCCGG 0.532 NaN 0 0 0 0.001984 0 7 94 ASAP2 8853 broad.mit.edu 37 2 9475228 9475228 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:9475228C>G uc002qzh.2 + 9 1109 c.769C>G c.(769-771)CAG>GAG p.Q257E ASAP2_uc002qzi.2_Missense_Mutation_p.Q257E NM_003887 NP_003878 O43150 ASAP2_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH 257 Potential. regulation of ARF GTPase activity Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|protein binding|zinc ion binding 0 AAAGATCAAACAGGCCCAGGA 0.413 NaN 0 0 0 0.008291 0 9 40 OTOF 9381 broad.mit.edu 37 2 26702466 26702466 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:26702466C>T uc002rhk.2 - 17 2095 c.1968G>A c.(1966-1968)CGG>CGA p.R656R OTOF_uc002rhh.2_5'Flank|OTOF_uc002rhi.2_5'Flank|OTOF_uc002rhj.2_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN otoferlin isoform a 656 Cytoplasmic (Potential). cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCGGCTCCTTCCGGGGCCGAG 0.627 NaN 0 0 0 0.006214 0 8 21 ABHD1 84696 broad.mit.edu 37 2 27351315 27351315 + Silent SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:27351315C>A uc002rit.2 + 2 281 c.121C>A c.(121-123)CGG>AGG p.R41R ABHD1_uc002riu.2_RNA|ABHD1_uc002riv.2_Intron NM_032604 NP_115993 Q96SE0 ABHD1_HUMAN abhydrolase domain-containing protein 1 41 integral to membrane carboxylesterase activity 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ACAGAGGCCTCGGCTGGTGGC 0.602 NaN 1 0 3.27435e-08 0.00245 3.71959e-08 14 50 XDH 7498 broad.mit.edu 37 2 31560610 31560610 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:31560610C>G uc002rnv.1 - 35 3927 c.3848G>C c.(3847-3849)CGA>CCA p.R1283P NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 1283 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GTGCTGAGCTCGAGCTGCACG 0.577 NaN 0 0 0 0.003163 0 16 36 BIRC6 57448 broad.mit.edu 37 2 32740790 32740790 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:32740790C>G uc010ezu.2 + 55 11436 c.11302C>G c.(11302-11304)CTA>GTA p.L3768V NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 3768 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) TGCGTTCTTTCTACAGTGCAT 0.393 NaN 0 0 0 0.003163 0 16 35 ABCG5 64240 broad.mit.edu 37 2 44051155 44051155 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:44051155G>C uc002rtn.2 - 9 1361 c.1221C>G c.(1219-1221)GTC>GTG p.V407V ABCG5_uc002rtm.2_Silent_p.V12V|ABCG5_uc002rto.2_Silent_p.V236V|ABCG5_uc002rtp.2_Silent_p.V12V NM_022436 NP_071881 Q9H222 ABCG5_HUMAN ATP-binding cassette sub-family G member 5 407 Extracellular (Potential).|ABC transmembrane type-2. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity ovary(1)|skin(1) 2 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CATTGCTTCGGACCCGCAGAA 0.512 NaN 0 0 0 0.00499 0 17 51 CCDC85A 114800 broad.mit.edu 37 2 56603022 56603022 + Silent SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:56603022A>G uc002rzn.2 + 5 2026 c.1524A>G c.(1522-1524)GGA>GGG p.G508G NM_001080433 NP_001073902 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 508 breast(3)|ovary(2) 5 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GCTTCAGTGGACATGCCACAC 0.458 NaN 0 0 0 0.001168 0 6 27 CD207 50489 broad.mit.edu 37 2 71058238 71058238 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:71058238T>C uc002shg.2 - 6 977 c.930A>G c.(928-930)CCA>CCG p.P310P NM_015717 NP_056532 Q9UJ71 CLC4K_HUMAN CD207 antigen, langerin 310 C-type lectin.|Extracellular (Potential). defense response to virus endocytic vesicle|integral to membrane mannose binding ovary(1)|lung(1) 2 TTTTGTCACATGGGGCATCAT 0.493 NaN 0 0 0 0.001984 0 6 38 NPHP1 4867 broad.mit.edu 37 2 110881615 110881615 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:110881615G>C uc002tfn.3 - 20 2046 c.1952C>G c.(1951-1953)ACG>AGG p.T651R NPHP1_uc002tfm.3_Missense_Mutation_p.T596R|NPHP1_uc002tfl.3_Missense_Mutation_p.T652R|NPHP1_uc002tfo.3_Missense_Mutation_p.T533R|NPHP1_uc010ywx.1_Missense_Mutation_p.T595R NM_207181 NP_997064 O15259 NPHP1_HUMAN nephrocystin 1 isoform 2 651 actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium protein binding|structural molecule activity ovary(2) 2 CAGGAGAAACGTGGACTTCAG 0.458 NaN 0 0 0 0.001984 0 7 85 FBLN7 129804 broad.mit.edu 37 2 112944892 112944892 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:112944892G>T uc002tho.1 + 8 1400 c.1129G>T c.(1129-1131)GGT>TGT p.G377C FBLN7_uc002thn.2_Intron|FBLN7_uc010fki.1_Missense_Mutation_p.G331C|FBLN7_uc010fkj.1_Missense_Mutation_p.G243C NM_153214 NP_694946 Q53RD9 FBLN7_HUMAN fibulin 7 isoform 1 377 cell adhesion proteinaceous extracellular matrix calcium ion binding|heparin binding ovary(1)|central_nervous_system(1) 2 TGGGATCGTGGGTGGGAACAG 0.642 NaN 1 0 3.86212e-05 0.008291 4.1632e-05 10 115 RAB3GAP1 22930 broad.mit.edu 37 2 135884205 135884205 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:135884205G>A uc002tuj.2 + 11 977 c.952G>A c.(952-954)GAG>AAG p.E318K RAB3GAP1_uc010fnf.2_Missense_Mutation_p.E318K|RAB3GAP1_uc010fng.2_Missense_Mutation_p.E143K|RAB3GAP1_uc010fnh.1_RNA NM_012233 NP_036365 Q15042 RB3GP_HUMAN RAB3 GTPase-activating protein 318 centrosome|nucleus|soluble fraction Rab GTPase activator activity|Rab GTPase binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(221;0.117) TCGAAAAGCTGAGAATCCTCA 0.368 NaN 0 0 0 0.012213 0 33 80 THSD7B 80731 broad.mit.edu 37 2 138414501 138414501 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:138414501G>T uc002tva.1 + 22 4154 c.4154G>T c.(4153-4155)AGC>ATC p.S1385I THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) AACCAAGACAGCTGCCCCCAA 0.433 NaN 1 0 3.83957e-06 0.00278 4.22986e-06 21 91 SCN1A 6323 broad.mit.edu 37 2 166896082 166896082 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:166896082C>T uc010zcz.1 - 14 2425 c.2407G>A c.(2407-2409)GAA>AAA p.E803K SCN1A_uc002udo.3_Missense_Mutation_p.E683K|SCN1A_uc010fpk.2_Missense_Mutation_p.E655K NM_006920 NP_008851 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha 814 Helical; Name=S2 of repeat II; (By similarity).|II. voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(6)|skin(6)|large_intestine(1) 13 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) AGAAACATTTCTGCTGTAAAG 0.333 NaN 0 0 0 0.001168 0 5 19 NFE2L2 4780 broad.mit.edu 37 2 178095532 178095532 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 G C G G Valid Somatic Phase_I WXS Fluidigm;RNASeq Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:178095532G>C uc002ulh.3 - 5 2354 c.1799C>G c.(1798-1800)CCA>CGA p.P600R NFE2L2_uc002ulg.3_Missense_Mutation_p.P584R|NFE2L2_uc010zfa.1_Missense_Mutation_p.P577R|NFE2L2_uc002uli.3_Missense_Mutation_p.P584R NM_006164 NP_006155 Q16236 NF2L2_HUMAN nuclear factor erythroid 2-like 2 isoform 1 600 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) CTTAACATCTGGCTTCTTACT 0.368 NaN Mis NSCLC|HNSCC HNSCC(56;0.16) 0 0 0 0.006214 0 10 97 DFNB59 494513 broad.mit.edu 37 2 179323266 179323266 + Silent SNP G G A rs138967124 by1000genomes TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179323266G>A uc002umi.3 + 5 935 c.579G>A c.(577-579)AAG>AAA p.K193K DFNB59_uc002umj.3_Silent_p.K193K NM_001042702 NP_001036167 Q0ZLH3 PJVK_HUMAN deafness, autosomal recessive 59 193 sensory perception of sound 0 OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564) AGAATCCCAAGGGAAGGGACA 0.353 NaN 0 0 0 0.004482 0 9 81 TTN 7273 broad.mit.edu 37 2 179413895 179413895 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179413895T>A uc010zfg.1 - 288 84978 c.84754A>T c.(84754-84756)AAC>TAC p.N28252Y uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21947Y|TTN_uc010zfi.1_Missense_Mutation_p.N21880Y|TTN_uc010zfj.1_Missense_Mutation_p.N21755Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29179 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) CCTGGTGGGTTGACGGGCTCT 0.463 NaN 0 0 0 0.001168 0 5 44 TTN 7273 broad.mit.edu 37 2 179613062 179613062 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179613062C>T uc002unb.2 - 46 14289 c.14065G>A c.(14065-14067)GAG>AAG p.E4689K TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CTACTTTTCTCCACCATAGTT 0.318 NaN 0 0 0 0.013114 0 47 63 TTN 7273 broad.mit.edu 37 2 179616411 179616411 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:179616411G>T uc002unb.2 - 46 10940 c.10716C>A c.(10714-10716)GAC>GAA p.D3572E TTN_uc010zfg.1_Intron|TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron NM_133379 NP_596870 Q8WZ42 TITIN_HUMAN titin isoform novex-3 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment 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) CAGAATCTCTGTCTTGGACCC 0.403 NaN 1 0 6.94344e-10 0.006122 8.04717e-10 19 104 C2orf47 79568 broad.mit.edu 37 2 200820940 200820940 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:200820940G>A uc002uvm.2 + 2 741 c.419G>A c.(418-420)AGC>AAC p.S140N C2orf60_uc002uvj.3_5'Flank|C2orf60_uc002uvi.3_5'Flank|C2orf60_uc002uvk.3_5'Flank|C2orf60_uc010fss.2_5'Flank|C2orf60_uc002uvl.2_5'Flank NM_024520 NP_078796 Q8WWC4 CB047_HUMAN hypothetical protein LOC79568 precursor 140 mitochondrion 0 AAAGAGTTCAGCATCACAGAG 0.448 NaN 0 0 0 0.00632 0 27 84 TRAF3IP1 26146 broad.mit.edu 37 2 239234477 239234477 + Nonsense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:239234477C>T uc002vye.2 + 3 339 c.220C>T c.(220-222)CAA>TAA p.Q74* TRAF3IP1_uc002vyf.2_Nonsense_Mutation_p.Q74* NM_015650 NP_056465 Q8TDR0 MIPT3_HUMAN TNF receptor-associated factor 3 interacting 74 Abolishes microtubules-binding when missing. cytoplasm|cytoskeleton protein binding ovary(1) 1 all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182) Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184) TAGCTTCCTACAAAAGGCCAT 0.423 NaN 0 0 0 0.001855 0 12 53 VPS16 64601 broad.mit.edu 37 20 2842542 2842542 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:2842542C>A uc002whe.2 + 10 1039 c.991C>A c.(991-993)CCA>ACA p.P331T VPS16_uc002whh.2_5'Flank|PTPRA_uc002whj.2_5'Flank|VPS16_uc002whf.2_Intron|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_5'Flank|VPS16_uc002whi.2_5'Flank NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 331 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 GCATGAGGTTCCAGGTGAGGC 0.612 NaN 1 0 5.18039e-06 0.00308 5.69133e-06 7 22 C20orf103 24141 broad.mit.edu 37 20 9496203 9496203 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:9496203G>C uc002wni.1 + 2 397 c.168G>C c.(166-168)ACG>ACC p.T56T C20orf103_uc010zrc.1_Silent_p.T56T NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 56 Extracellular (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) ATGGGACGACGTGTCTCATGG 0.458 NaN 0 0 0 0.010729 0 12 112 ANKRD5 63926 broad.mit.edu 37 20 10030184 10030184 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:10030184C>G uc002wno.2 + 7 1360 c.967C>G c.(967-969)CCA>GCA p.P323A uc002wnn.1_Intron|ANKRD5_uc002wnp.2_Missense_Mutation_p.P323A|ANKRD5_uc010gbz.2_Missense_Mutation_p.P134A NM_022096 NP_071379 Q9NU02 ANKR5_HUMAN ankyrin repeat domain protein 5 323 calcium ion binding ovary(1)|breast(1) 2 AAATCCAAATCCACTGTGGGC 0.517 NaN 0 0 0 0.001984 0 7 80 RIN2 54453 broad.mit.edu 37 20 19977359 19977359 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:19977359C>G uc002wro.1 + 10 2273 c.2237C>G c.(2236-2238)TCT>TGT p.S746C RIN2_uc010gcu.1_Missense_Mutation_p.S313C|RIN2_uc010gcv.1_Missense_Mutation_p.S540C NM_018993 NP_061866 Q8WYP3 RIN2_HUMAN Ras and Rab interactor 2 746 VPS9. endocytosis|small GTPase mediated signal transduction cytoplasm GTPase activator activity|Rab guanyl-nucleotide exchange factor activity lung(4)|ovary(1) 5 GGAGCACTTTCTCTGATAAAG 0.527 NaN 0 0 0 0.000602 0 5 28 NINL 22981 broad.mit.edu 37 20 25484683 25484683 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:25484683C>T uc002wux.1 - 7 840 c.766G>A c.(766-768)GAG>AAG p.E256K NINL_uc010gdn.1_Missense_Mutation_p.E256K|NINL_uc010gdo.1_Missense_Mutation_p.E96K|NINL_uc010ztf.1_Missense_Mutation_p.E272K NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 256 Potential.|EF-hand 4. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TGGAATTCCTCAAGACTCACT 0.498 NaN 0 0 0 0.009535 0 33 113 MYLK2 85366 broad.mit.edu 37 20 30419638 30419638 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:30419638C>T uc002wwq.2 + 11 1659 c.1557C>T c.(1555-1557)AAC>AAT p.N519N MYLK2_uc002wws.2_Silent_p.N136N|MYLK2_uc010gdw.1_RNA NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 519 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) TTGTCTCCAACCTCATCGTCA 0.517 NaN 0 0 0 0.00308 0 7 75 MYLK2 85366 broad.mit.edu 37 20 30419888 30419888 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:30419888C>T uc002wwq.2 + 12 1761 c.1659C>T c.(1657-1659)CGC>CGT p.R553R MYLK2_uc002wws.2_Silent_p.R170R|MYLK2_uc010gdw.1_RNA NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 553 cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GTAACCGACGCCTTAAGTCCC 0.592 NaN 0 0 0 0.001984 0 7 12 SUN5 140732 broad.mit.edu 37 20 31573573 31573573 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:31573573A>T uc002wyi.2 - 11 959 c.866T>A c.(865-867)CTG>CAG p.L289Q NM_080675 NP_542406 Q8TC36 SUN5_HUMAN sperm associated antigen 4-like 289 SUN. spermatogenesis skin(1) 1 GGCGGTGTCCAGGCTGCCTGA 0.562 NaN 0 0 0 0.009096 0 4 40 C20orf185 359710 broad.mit.edu 37 20 31644371 31644371 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:31644371G>A uc002wym.1 + 2 148 c.148G>A c.(148-150)GAG>AAG p.E50K NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 50 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 ACTGGTTGGGGAGCCCATTCT 0.607 NaN 0 0 0 0.00874 0 43 73 DLGAP4 22839 broad.mit.edu 37 20 35064619 35064619 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:35064619C>T uc002xff.2 + 4 1542 c.1107C>T c.(1105-1107)TAC>TAT p.Y369Y DLGAP4_uc010zvp.1_Silent_p.Y369Y NM_014902 NP_055717 Q9Y2H0 DLGP4_HUMAN disks large-associated protein 4 isoform a 369 cell-cell signaling membrane protein binding skin(2)|ovary(1) 3 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) GCGGCAGCTACATCAAGGCCA 0.736 NaN 0 0 0 0.004672 0 3 11 KIAA0406 9675 broad.mit.edu 37 20 36641207 36641207 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:36641207C>A uc002xhl.2 - 3 1221 c.1012G>T c.(1012-1014)GGA>TGA p.G338* KIAA0406_uc002xhm.2_Nonsense_Mutation_p.G338* NM_014657 NP_055472 O43156 TTI1_HUMAN hypothetical protein LOC9675 338 binding 0 Myeloproliferative disorder(115;0.00874) TTTACTAGTCCCACTAAGGCC 0.468 NaN 1 0 4.22769e-11 0.00632 4.95703e-11 28 170 CHD6 84181 broad.mit.edu 37 20 40049171 40049171 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:40049171C>G uc002xka.1 - 31 6282 c.6104G>C c.(6103-6105)AGA>ACA p.R2035T NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 2035 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) GTTTCCGTCTCTATCATAATC 0.433 NaN 0 0 0 0.006122 0 18 89 CHD6 84181 broad.mit.edu 37 20 40052303 40052303 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:40052303C>T uc002xka.1 - 30 4562 c.4384G>A c.(4384-4386)GTG>ATG p.V1462M NM_032221 NP_115597 Q8TD26 CHD6_HUMAN chromodomain helicase DNA binding protein 6 1462 chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding ovary(6)|skin(5)|lung(2)|central_nervous_system(1) 14 Myeloproliferative disorder(115;0.00425) AAGGAAGACACTGTTCTATAG 0.408 NaN 0 0 0 0.013537 0 12 167 SEMG2 6407 broad.mit.edu 37 20 43851768 43851768 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:43851768G>A uc010ggz.2 + 2 1552 c.1495G>A c.(1495-1497)GAA>AAA p.E499K SEMG2_uc002xnk.2_Missense_Mutation_p.E499K|SEMG2_uc002xnl.2_Intron NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 499 Repeat-rich region.|4 X 60 AA tandem repeats, type I. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) TTTCCAAATTGAAAAGCTAGT 0.398 NaN 0 0 0 0.001168 0 6 77 WFDC13 164237 broad.mit.edu 37 20 44330835 44330835 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:44330835A>C uc002xpd.2 + 1 181 c.73A>C c.(73-75)AAG>CAG p.K25Q WFDC10B_uc002xpb.2_Intron|WFDC10B_uc002xpc.2_Intron NM_172005 NP_742002 Q8IUB5 WFD13_HUMAN WAP four-disulfide core domain 13 precursor 25 extracellular region peptidase inhibitor activity 0 Myeloproliferative disorder(115;0.0122) TGGGAGTCCCAAGCAGCGTGT 0.562 NaN 0 0 0 0.009096 0 4 22 PCIF1 63935 broad.mit.edu 37 20 44574444 44574444 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:44574444G>C uc002xqs.2 + 12 1577 c.1263G>C c.(1261-1263)ATG>ATC p.M421I PCIF1_uc002xqt.2_Missense_Mutation_p.M1I|PCIF1_uc002xqu.2_5'Flank NM_022104 NP_071387 Q9H4Z3 PCIF1_HUMAN phosphorylated CTD interacting factor 1 421 nucleus skin(1) 1 GCGTGGAGATGCACATGGAGA 0.612 NaN 0 0 0 0.006214 0 9 105 KCNB1 3745 broad.mit.edu 37 20 47990502 47990502 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:47990502A>C uc002xur.1 - 2 1759 c.1595T>G c.(1594-1596)ATG>AGG p.M532R KCNB1_uc002xus.1_Missense_Mutation_p.M532R NM_004975 NP_004966 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related 532 Cytoplasmic (Potential). energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity pancreas(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTTATTGTACATGTCTTCCAA 0.468 NaN 0 0 0 0.00499 0 18 201 BCAS4 55653 broad.mit.edu 37 20 49493030 49493030 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:49493030C>G uc002xvq.2 + 6 658 c.594C>G c.(592-594)ACC>ACG p.T198T BCAS4_uc002xvr.2_Missense_Mutation_p.P166R|BCAS4_uc002xvs.2_Missense_Mutation_p.P121R NM_017843 NP_060313 Q8TDM0 BCAS4_HUMAN breast carcinoma amplified sequence 4 isoform a 198 cytoplasm 0 CAGAAGTCACCTGCACCGGTG 0.557 NaN 0 0 0 0.004007 0 16 107 UCKL1 54963 broad.mit.edu 37 20 62575994 62575994 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr20:62575994C>T uc010gkn.2 - 6 791 c.748G>A c.(748-750)GAG>AAG p.E250K UCKL1_uc002yhj.2_5'Flank|UCKL1_uc011abm.1_Missense_Mutation_p.E235K|UCKL1_uc011abn.1_RNA|UCKL1_uc011abo.1_RNA|MIR647_hsa-mir-647|MI0003662_5'Flank NM_017859 NP_060329 Q9NWZ5 UCKL1_HUMAN uridine-cytidine kinase 1-like 1 250 interspecies interaction between organisms endoplasmic reticulum|nucleus ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity 0 all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08) ATGACACCCTCGATGTCCCGG 0.602 NaN 0 0 0 0.001984 0 6 29 ADAMTS5 11096 broad.mit.edu 37 21 28304481 28304481 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:28304481C>T uc002ymg.2 - 6 2620 c.1891G>A c.(1891-1893)GAA>AAA p.E631K NM_007038 NP_008969 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 631 Cys-rich. proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding upper_aerodigestive_tract(2)|ovary(1)|pancreas(1) 4 TCACACTGTTCATGACGAAAT 0.363 NaN 0 0 0 0.001984 0 7 37 KRTAP27-1 643812 broad.mit.edu 37 21 31709409 31709409 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:31709409T>C uc002ynx.1 - 1 604 c.578A>G c.(577-579)GAA>GGA p.E193G NM_001077711 NP_001071179 Q3LI81 KR271_HUMAN keratin associated protein 27-1 193 intermediate filament ovary(2) 2 GCAAGTTGGTTCAACTCCTGG 0.438 NaN 0 0 0 0.00308 0 8 52 SIM2 6493 broad.mit.edu 37 21 38098555 38098555 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:38098555C>T uc002yvr.2 + 6 735 c.679C>T c.(679-681)CTG>TTG p.L227L SIM2_uc002yvq.2_Silent_p.L227L NM_005069 NP_005060 Q14190 SIM2_HUMAN single-minded homolog 2 long isoform 227 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(1) 1 CGAGATCAAGCTGTACAGTAA 0.567 NaN 0 0 0 0.00308 0 7 40 MCM3AP 8888 broad.mit.edu 37 21 47695171 47695171 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr21:47695171C>G uc002zir.1 - 6 1963 c.1927G>C c.(1927-1929)GAG>CAG p.E643Q NM_003906 NP_003897 O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 643 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding large_intestine(2)|lung(1)|ovary(1)|skin(1) 5 Breast(49;0.112) CTCTCCTTCTCAGGACACATA 0.537 NaN 0 0 0 0.000602 0 5 17 CLDN5 7122 broad.mit.edu 37 22 19511148 19511148 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:19511148C>T uc002zpu.2 - 2 1101 c.886G>A c.(886-888)GAC>AAC p.D296N CLDN5_uc010grr.2_Missense_Mutation_p.D296N NM_003277 NP_003268 O00501 CLD5_HUMAN claudin 5 211 Cytoplasmic (Potential). calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity 0 Colorectal(54;0.0993) TTGTCGTAGTCGCCGGTGGCC 0.716 NaN 0 0 0 0.009096 0 4 29 CYTSA 23384 broad.mit.edu 37 22 24717999 24717999 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:24717999G>A uc002zzw.2 + 5 1358 c.1051G>A c.(1051-1053)GAG>AAG p.E351K CYTSA_uc002zzv.3_Missense_Mutation_p.E351K|CYTSA_uc011ajq.1_Missense_Mutation_p.E351K NM_015330 NP_056145 Q69YQ0 CYTSA_HUMAN cytospin A 351 cell cycle|cell division 0 TGAGTGCAGTGAGGTCTACCA 0.547 NaN 0 0 0 0.013537 0 13 66 NIPSNAP1 8508 broad.mit.edu 37 22 29966393 29966393 + Splice_Site SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:29966393C>A uc003afx.3 - 2 299 c.226_splice c.e2+1 p.F76_splice NIPSNAP1_uc011akp.1_Splice_Site_p.F56_splice NM_003634 NP_003625 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 p.?(1) skin(1) 1 CAGCCACTCACACTGGATCTT 0.567 NaN 1 0 0.000157383 0.00308 0.000168295 7 36 PES1 23481 broad.mit.edu 37 22 30980647 30980647 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:30980647G>C uc003aij.1 - 5 500 c.426C>G c.(424-426)TTC>TTG p.F142L PES1_uc003aik.1_Missense_Mutation_p.F142L|PES1_uc003ail.1_Missense_Mutation_p.F142L|PES1_uc003aim.1_Missense_Mutation_p.F142L|PES1_uc003ain.1_Missense_Mutation_p.F3L|PES1_uc003aio.1_Missense_Mutation_p.F3L NM_014303 NP_055118 O00541 PESC_HUMAN pescadillo homolog 1, containing BRCT domain 142 Sufficient for nucleolar localization. cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor protein binding 0 TGGAAAACAGGAAGCACATGG 0.607 NaN 0 0 0 0.009096 0 4 27 PISD 23761 broad.mit.edu 37 22 32044244 32044244 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:32044244G>C uc003alm.3 - 3 171 c.164C>G c.(163-165)ACT>AGT p.T55S PISD_uc003aln.3_Missense_Mutation_p.T55S NM_014338 NP_055153 Q9UG56 PISD_HUMAN phosphatidylserine decarboxylase 55 phospholipid biosynthetic process mitochondrion phosphatidylserine decarboxylase activity central_nervous_system(2)|ovary(1) 3 Phosphatidylserine(DB00144) GGCAGGGGCAGTGTGGATTTT 0.527 NaN 0 0 0 0.000602 0 5 3 TOM1 10043 broad.mit.edu 37 22 35723369 35723369 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:35723369G>A uc003ann.2 + 7 879 c.754G>A c.(754-756)GAG>AAG p.E252K TOM1_uc011ami.1_Missense_Mutation_p.E219K|TOM1_uc011amj.1_Missense_Mutation_p.E95K|TOM1_uc003ans.2_Missense_Mutation_p.E95K|TOM1_uc011amk.1_Missense_Mutation_p.E214K|TOM1_uc003anp.2_Missense_Mutation_p.E252K|TOM1_uc011aml.1_Missense_Mutation_p.E207K|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.E246K|TOM1_uc003anr.2_Missense_Mutation_p.E95K NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 252 GAT. endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CGCAGACCTGGAGCTGCTGCA 0.622 NaN 0 0 0 0.009096 0 3 22 TRIOBP 11078 broad.mit.edu 37 22 38120564 38120564 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr22:38120564C>G uc003atr.2 + 7 2272 c.2001C>G c.(1999-2001)ATC>ATG p.I667M TRIOBP_uc003atu.2_Missense_Mutation_p.I495M|TRIOBP_uc003atq.1_Missense_Mutation_p.I667M|TRIOBP_uc003ats.1_Missense_Mutation_p.I495M NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 667 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) ACAGAACCATCCAACAAGAGA 0.572 NaN 0 0 0 0.006122 0 18 47 ARPC4 10093 broad.mit.edu 37 3 9845628 9845628 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:9845628G>C uc003bsz.1 + 5 1011 c.432G>C c.(430-432)AAG>AAC p.K144N ARPC4_uc003bta.1_Missense_Mutation_p.K54N|ARPC4_uc003btb.1_Missense_Mutation_p.K54N|ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Intron NM_005718 NP_005709 P59998 ARPC4_HUMAN actin related protein 2/3 complex subunit 4 144 actin filament polymerization|actin nucleation Arp2/3 protein complex|cell projection|cytoplasm actin binding 0 Medulloblastoma(99;0.227) AGATTGACAAGGAGATCAGTG 0.468 NaN 0 0 0 0.001855 0 14 122 ATP2B2 491 broad.mit.edu 37 3 10419989 10419989 + Missense_Mutation SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:10419989T>C uc003bvt.2 - 10 1587 c.1148A>G c.(1147-1149)AAG>AGG p.K383R ATP2B2_uc003bvv.2_Missense_Mutation_p.K338R|ATP2B2_uc003bvw.2_Missense_Mutation_p.K338R|ATP2B2_uc010hdo.2_Missense_Mutation_p.K88R NM_001001331 NP_001001331 Q01814 AT2B2_HUMAN plasma membrane calcium ATPase 2 isoform 1 383 Cytoplasmic (Potential). ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|ATP binding|calcium ion binding|calcium-transporting ATPase activity|calcium-transporting ATPase activity|calmodulin binding|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding ovary(3)|skin(2)|central_nervous_system(1) 6 CAGCACGGACTTCTCCTTCTT 0.607 NaN 0 0 0 0.00308 0 8 66 SLC6A11 6538 broad.mit.edu 37 3 10858095 10858095 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:10858095G>A uc003bvz.2 + 1 179 c.145G>A c.(145-147)GAG>AAG p.E49K SLC6A11_uc003bvy.1_Missense_Mutation_p.E49K NM_014229 NP_055044 P48066 S6A11_HUMAN solute carrier family 6 (neurotransmitter 49 Cytoplasmic (Potential). neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity skin(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.229) GGCGGTCCACGAGCGCGGCCA 0.557 NaN 0 0 0 0.004672 0 3 13 ZNF502 91392 broad.mit.edu 37 3 44763523 44763523 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:44763523G>A uc011baa.1 + 4 1469 c.1214G>A c.(1213-1215)AGA>AAA p.R405K ZNF502_uc003cns.2_Missense_Mutation_p.R405K|ZNF502_uc011bab.1_Missense_Mutation_p.R405K|ZNF502_uc003cnt.2_Missense_Mutation_p.R405K NM_001134440 NP_001127912 Q8TBZ5 ZN502_HUMAN zinc finger protein 502 405 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589) ACAGGGGAGAGACCCTACAAA 0.413 NaN 0 0 0 0.003163 0 16 30 SLC6A20 54716 broad.mit.edu 37 3 45812892 45812892 + Nonsense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:45812892G>C uc011bai.1 - 6 876 c.752C>G c.(751-753)TCA>TGA p.S251* SLC6A20_uc003cow.2_5'UTR|SLC6A20_uc011baj.1_Nonsense_Mutation_p.S214* NM_020208 NP_064593 Q9NP91 S6A20_HUMAN solute carrier family 6, member 20 isoform 1 251 Helical; Name=6; (Potential). cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) CAGGCCAAGTGAGAAGAAGAT 0.587 NaN 0 0 0 0.008291 0 11 30 CSPG5 10675 broad.mit.edu 37 3 47604194 47604194 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:47604194C>A uc003crp.3 - 5 1773 c.1597G>T c.(1597-1599)GAG>TAG p.E533* CSPG5_uc003crm.2_RNA|CSPG5_uc003crn.2_Nonsense_Mutation_p.E368*|CSPG5_uc003cro.3_Nonsense_Mutation_p.E506*|CSPG5_uc011bbb.1_Nonsense_Mutation_p.E395* NM_006574 NP_006565 O95196 CSPG5_HUMAN chondroitin sulfate proteoglycan 5 (neuroglycan 533 Cytoplasmic (Potential). cell differentiation|intracellular transport|nervous system development|regulation of growth endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction growth factor activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) AATGACTCCTCCTCTTTCAGG 0.488 NaN 1 0 3.32936e-07 0.006122 3.71887e-07 19 78 SEMA3F 6405 broad.mit.edu 37 3 50197151 50197151 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:50197151C>T uc003cyj.2 + 2 294 c.96C>T c.(94-96)GTC>GTT p.V32V SEMA3F_uc003cyk.2_Silent_p.V32V NM_004186 NP_004177 Q13275 SEM3F_HUMAN semaphorin 3F precursor 32 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity lung(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) CGCCCCGGGTCCGGCTCTCAT 0.587 NaN 0 0 0 0.000602 0 5 22 SEMA3B 7869 broad.mit.edu 37 3 50311844 50311844 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:50311844C>A uc003cyu.2 + 13 1430 c.1188C>A c.(1186-1188)GAC>GAA p.D396E SEMA3B_uc003cyt.2_Missense_Mutation_p.D395E|SEMA3B_uc003cyv.2_Missense_Mutation_p.D283E|SEMA3B_uc003cyw.2_Missense_Mutation_p.D119E|SEMA3B_uc010hli.2_Missense_Mutation_p.D288E|SEMA3B_uc003cyx.2_Missense_Mutation_p.D282E|SEMA3B_uc003cyy.2_Missense_Mutation_p.D53E|SEMA3B_uc011bdo.1_Missense_Mutation_p.D53E NM_004636 NP_004627 Q13214 SEM3B_HUMAN semaphorin 3B isoform 1 precursor 396 Sema. axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity lung(2)|central_nervous_system(2)|kidney(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ACTTCCCAGACGATGTCATCC 0.572 NaN OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.9806e-07 0.014323 2.23095e-07 21 76 DNAH1 25981 broad.mit.edu 37 3 52400859 52400859 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:52400859G>T uc011bef.1 + 36 5982 c.5721G>T c.(5719-5721)ACG>ACT p.T1907T NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN dynein, axonemal, heavy chain 1 1907 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity large_intestine(3) 3 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTCCATCACGATGGGCCAGC 0.607 NaN 1 0 5.16669e-11 0.010729 6.02279e-11 9 59 ARL13B 200894 broad.mit.edu 37 3 93699277 93699277 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:93699277C>G uc003drc.2 + 1 296 c.10C>G c.(10-12)CTG>GTG p.L4V ARL13B_uc010hop.2_5'UTR|ARL13B_uc003drd.2_Missense_Mutation_p.L4V|ARL13B_uc003dre.2_5'UTR|ARL13B_uc003drf.2_Missense_Mutation_p.L4V|ARL13B_uc003drg.2_5'UTR NM_182896 NP_878899 Q3SXY8 AR13B_HUMAN ADP-ribosylation factor-like 2-like 1 isoform 1 4 GTP binding 0 GATGTTCAGTCTGATGGCCAG 0.692 NaN 0 0 0 0.004007 0 13 74 PARP14 54625 broad.mit.edu 37 3 122420202 122420202 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:122420202T>G uc003efq.3 + 6 2860 c.2801T>G c.(2800-2802)GTG>GGG p.V934G PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.V651G|PARP14_uc003efs.1_Missense_Mutation_p.V651G NM_017554 NP_060024 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 934 Macro 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity ovary(2)|breast(2)|lung(1)|pancreas(1) 6 GBM - Glioblastoma multiforme(114;0.0531) GGCCGATGCGTGGAGACCATT 0.448 NaN 0 0 0 0.004482 0 8 51 HSPBAP1 79663 broad.mit.edu 37 3 122459597 122459597 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:122459597C>A uc003efu.1 - 8 1185 c.1062G>T c.(1060-1062)ATG>ATT p.M354I HSPBAP1_uc003eft.1_Missense_Mutation_p.M65I NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 354 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) CTTCCTTTTTCATGTGCTCTC 0.458 NaN 1 0 1.33834e-09 0.007413 1.54661e-09 17 236 MYLK 4638 broad.mit.edu 37 3 123451827 123451827 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:123451827G>C uc003ego.2 - 11 1714 c.1432C>G c.(1432-1434)CGG>GGG p.R478G MYLK_uc011bjw.1_Missense_Mutation_p.R478G|MYLK_uc003egp.2_Intron|MYLK_uc003egq.2_Missense_Mutation_p.R478G|MYLK_uc003egr.2_Intron|MYLK_uc003egs.2_Missense_Mutation_p.R302G NM_053025 NP_444253 Q15746 MYLK_HUMAN myosin light chain kinase isoform 1 478 Ig-like C2-type 3. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity ovary(6)|skin(2)|stomach(1) 9 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCCCTGGTCCGGGCTTTCAGC 0.577 NaN 0 0 0 0.001984 0 6 44 ROPN1 54763 broad.mit.edu 37 3 123688915 123688915 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:123688915C>A uc003eha.2 - 6 887 c.546G>T c.(544-546)AGG>AGT p.R182S NM_017578 NP_060048 Q9HAT0 ROP1A_HUMAN ropporin 182 signal transduction cAMP-dependent protein kinase regulator activity ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(114;0.148) AGTTTAGCATCCTGCTGACAT 0.453 NaN 1 0 1.76689e-08 0.006214 2.02436e-08 10 98 KALRN 8997 broad.mit.edu 37 3 124209673 124209673 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:124209673G>A uc003ehg.2 + 30 4650 c.4523G>A c.(4522-4524)AGC>AAC p.S1508N KALRN_uc010hrv.1_Missense_Mutation_p.S1499N|KALRN_uc003ehf.1_Missense_Mutation_p.S1508N|KALRN_uc011bjy.1_Missense_Mutation_p.S1499N NM_001024660 NP_001019831 O60229 KALRN_HUMAN kalirin, RhoGEF kinase isoform 1 1508 PH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity large_intestine(2)|ovary(2)|central_nervous_system(1)|skin(1) 6 TTGGTTTTTAGCAAGGAGATC 0.498 NaN 0 0 0 0.003954 0 26 54 OSBPL11 114885 broad.mit.edu 37 3 125250824 125250824 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:125250824C>T uc003eic.2 - 12 2796 c.2059G>A c.(2059-2061)GAA>AAA p.E687K NM_022776 NP_073613 Q9BXB4 OSB11_HUMAN oxysterol binding protein-like 11 687 lipid transport lipid binding ovary(3)|breast(1)|kidney(1) 5 ATTTCAGATTCTCTCAGCGAG 0.393 NaN 0 0 0 0.00499 0 16 72 A4GNT 51146 broad.mit.edu 37 3 137843555 137843555 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:137843555T>A uc003ers.2 - 3 776 c.574A>T c.(574-576)AAT>TAT p.N192Y NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 192 Lumenal (Potential). protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1) 1 AATATTCCATTACTAGAGTAC 0.498 NaN 0 0 0 0.006214 0 8 89 RARRES1 5918 broad.mit.edu 37 3 158428666 158428666 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:158428666G>C uc003fci.2 - 3 467 c.396C>G c.(394-396)TTC>TTG p.F132L RARRES1_uc003fcj.2_Missense_Mutation_p.F132L NM_206963 NP_996846 P49788 TIG1_HUMAN retinoic acid receptor responder (tazarotene 132 Extracellular (Potential). negative regulation of cell proliferation integral to membrane 0 Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043) Tretinoin(DB00755) TCTGATTCTTGAAAAACACTC 0.428 NaN 0 0 0 0.01441 0 48 123 SEC62 7095 broad.mit.edu 37 3 169710730 169710730 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:169710730G>A uc003fgg.2 + 8 1110 c.1079G>A c.(1078-1080)GGA>GAA p.G360E SEC62_uc003fgh.2_Missense_Mutation_p.G360E NM_003262 NP_003253 Q99442 SEC62_HUMAN translocation protein 1 360 Cytoplasmic (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 AGTGGAAATGGAAATGATTTT 0.458 NaN 0 0 0 0.009096 0 4 39 PIK3CA 5290 broad.mit.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A rs121913273 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:178936082G>A uc003fjk.2 + 10 1781 c.1624G>A c.(1624-1626)GAA>AAA p.E542K NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 542 PI3K helical. E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TCCTCTCTCTGAAATCACTGA 0.333 E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) 0 0 0 0.004007 0 15 52 MCF2L2 23101 broad.mit.edu 37 3 183029466 183029466 + Missense_Mutation SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:183029466T>A uc003fli.1 - 8 938 c.848A>T c.(847-849)AAC>ATC p.N283I MCF2L2_uc003flj.1_Missense_Mutation_p.N283I|MCF2L2_uc003flp.1_Missense_Mutation_p.N318I|MCF2L2_uc011bqs.1_5'Flank NM_015078 NP_055893 Q86YR7 MF2L2_HUMAN Rho family guanine-nucleotide exchange factor 283 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity ovary(2)|large_intestine(2)|breast(1) 5 all_cancers(143;1.26e-12)|Ovarian(172;0.0355) all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) CTCAAGTTGGTTGAGATTGAG 0.438 NaN 0 0 0 0.012213 0 35 72 AHSG 197 broad.mit.edu 37 3 186335076 186335076 + Silent SNP C C T rs78152999 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:186335076C>T uc003fqk.3 + 4 591 c.510C>T c.(508-510)GCC>GCT p.A170A AHSG_uc003fqj.2_Silent_p.A170A|AHSG_uc003fql.3_Silent_p.A171A|AHSG_uc003fqm.3_Silent_p.A169A|AHSG_uc010hyp.2_Silent_p.A133A NM_001622 NP_001613 P02765 FETUA_HUMAN alpha-2-HS-glycoprotein 170 Cystatin fetuin-A-type 2. PLLAPLNDTRVVHAAKAALAAFNAQNNGSNFQL -> MVGW QEGANHKNGAGRSQKQEMAEKMVPEVASG (in Ref. 12; AAF69649). acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development extracellular space cysteine-type endopeptidase inhibitor activity|protein binding 0 all_cancers(143;3.64e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.27e-20) GBM - Glioblastoma multiforme(93;0.0463) CCCTGGCCGCCTTCAACGCTC 0.592 NaN OREG0015968 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.006214 0 10 83 ATP13A5 344905 broad.mit.edu 37 3 193007837 193007837 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr3:193007837G>C uc011bsq.1 - 26 2860 c.2860C>G c.(2860-2862)CAT>GAT p.H954D NM_198505 NP_940907 Q4VNC0 AT135_HUMAN ATPase type 13A5 954 Helical; (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding ovary(5)|skin(4)|large_intestine(2) 11 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) GGGTAGGCATGAGTTGAACTC 0.383 NaN 0 0 0 0.001984 0 6 64 KDR 3791 broad.mit.edu 37 4 55961065 55961065 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:55961065G>C uc003has.2 - 21 3177 c.2875C>G c.(2875-2877)CTG>GTG p.L959V KDR_uc003hat.1_Missense_Mutation_p.L959V NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 959 Protein kinase.|Cytoplasmic (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) CGCCGTTTCAGATCCACAGGG 0.478 NaN Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) 0 0 0 0.010729 0 12 61 HTN1 3346 broad.mit.edu 37 4 70920139 70920139 + Missense_Mutation SNP G G A rs78945345 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:70920139G>A uc003hex.2 + 4 141 c.74G>A c.(73-75)AGA>AAA p.R25K NM_002159 NP_002150 P15515 HIS1_HUMAN histatin 1 precursor 25 biomineral tissue development|defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding skin(1) 1 ATTTCATAGAGACATCATGGG 0.289 NaN 0 0 0 0.001168 0 6 15 GRIA2 2891 broad.mit.edu 37 4 158283999 158283999 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:158283999A>G uc003ipm.3 + 15 2914 c.2455A>G c.(2455-2457)ATC>GTC p.I819V GRIA2_uc011cit.1_Missense_Mutation_p.I772V|GRIA2_uc003ipl.3_Missense_Mutation_p.I819V|GRIA2_uc003ipk.3_Missense_Mutation_p.I772V|GRIA2_uc011civ.1_RNA|GRIA2_uc011ciw.1_RNA|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 819 Helical; (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGTATTCTACATCCTTGTCGG 0.468 NaN 0 0 0 0.001984 0 7 51 VEGFC 7424 broad.mit.edu 37 4 177713384 177713384 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:177713384C>G uc003ius.1 - 1 512 c.82G>C c.(82-84)GCC>CCC p.A28P NM_005429 NP_005420 P49767 VEGFC_HUMAN vascular endothelial growth factor C 28 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity lung(5) 5 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) gcggcggcggcggcgggcgcc 0.562 NaN 0 0 0 0.004672 0 3 14 FAT1 2195 broad.mit.edu 37 4 187524560 187524560 + Nonsense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr4:187524560G>T uc003izf.2 - 19 11308 c.11120C>A c.(11119-11121)TCA>TAA p.S3707* NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 3707 Extracellular (Potential). actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 TTGTTTTGTTGAGATCTGAGC 0.433 NaN HNSCC(5;0.00058) 1 0 1.58986e-06 0.008291 1.76115e-06 10 28 TAS2R1 50834 broad.mit.edu 37 5 9629419 9629419 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:9629419C>A uc003jem.1 - 1 1045 c.726G>T c.(724-726)ATG>ATT p.M242I NM_019599 NP_062545 Q9NYW7 TA2R1_HUMAN taste receptor T2R1 242 Helical; Name=6; (Potential). chemosensory behavior|sensory perception of taste integral to membrane taste receptor activity ovary(3) 3 AAACTTTTATCATGCAGTGGG 0.478 NaN 1 0 4.68919e-08 0.008291 5.31177e-08 10 50 TRIO 7204 broad.mit.edu 37 5 14399063 14399063 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:14399063T>G uc003jff.2 + 30 4504 c.4498T>G c.(4498-4500)TTA>GTA p.L1500V TRIO_uc003jfg.2_RNA|TRIO_uc011cna.1_Missense_Mutation_p.L1451V|TRIO_uc003jfh.1_Missense_Mutation_p.L1149V NM_007118 NP_009049 O75962 TRIO_HUMAN triple functional domain (PTPRF interacting) 1500 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity skin(4)|central_nervous_system(3)|ovary(3)|large_intestine(2)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|kidney(1) 18 Lung NSC(4;0.000742) CCCAAAAACCTTAATTCGAAA 0.408 NaN 0 0 0 0.004007 0 17 68 CWC27 10283 broad.mit.edu 37 5 64314141 64314141 + Missense_Mutation SNP G G C rs143234808 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:64314141G>C uc003jtn.1 + 14 1631 c.1412G>C c.(1411-1413)AGA>ACA p.R471T CWC27_uc010iwt.1_3'UTR NM_005869 NP_005860 Q6UX04 CWC27_HUMAN serologically defined colon cancer antigen 10 471 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity 0 AAAAAAGAAAGAAGATAAAAT 0.388 NaN 0 0 0 0.00245 0 14 44 OCLN 4950 broad.mit.edu 37 5 68805240 68805240 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:68805240G>A uc003jwu.2 + 3 759 c.323G>A c.(322-324)GGA>GAA p.G108E OCLN_uc003jwv.3_Missense_Mutation_p.G108E NM_002538 NP_002529 occludin 0 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) CCTTATGGAGGAAGTGGCTTT 0.438 NaN 0 0 0 0.00499 0 18 96 DMGDH 29958 broad.mit.edu 37 5 78359611 78359611 + Splice_Site SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:78359611C>G uc003kfs.2 - 2 108 c.102_splice c.e2-1 p.G34_splice DMGDH_uc011ctf.1_Splice_Site|DMGDH_uc011ctg.1_Splice_Site NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) TTTTTCCTCTCTGGAAGAGGG 0.448 NaN 0 0 0 0.001855 0 13 54 VCAN 1462 broad.mit.edu 37 5 82835422 82835422 + Silent SNP T T A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:82835422T>A uc003kii.3 + 8 6956 c.6600T>A c.(6598-6600)ACT>ACA p.T2200T VCAN_uc003kij.3_Silent_p.T1213T|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Silent_p.T864T NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2200 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) CTGAAGCTACTGAAAAGTCAC 0.368 NaN 0 0 0 0.004007 0 17 90 AQPEP 206338 broad.mit.edu 37 5 115350145 115350145 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:115350145G>A uc003kro.2 + 16 2535 c.2371G>A c.(2371-2373)GCG>ACG p.A791T AQPEP_uc003krp.2_RNA|AQPEP_uc003krq.2_RNA|AQPEP_uc003krr.2_RNA|AQPEP_uc003krs.2_RNA NM_173800 NP_776161 Q6Q4G3 AMPQ_HUMAN laeverin 791 Lumenal (Potential). proteolysis integral to membrane metallopeptidase activity|zinc ion binding 0 TTTTGTAACTGCGTGTTGGTT 0.358 NaN 0 0 0 0.000602 0 5 55 SEPT8 23176 broad.mit.edu 37 5 132098183 132098183 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:132098183A>T uc003kxr.2 - 5 927 c.689T>A c.(688-690)GTC>GAC p.V230D SEPT8_uc003kxs.1_Missense_Mutation_p.V230D|SEPT8_uc003kxu.2_Missense_Mutation_p.V230D|SEPT8_uc011cxi.1_Missense_Mutation_p.V228D|SEPT8_uc003kxv.2_Missense_Mutation_p.V228D|SEPT8_uc003kxt.2_Missense_Mutation_p.V170D NM_001098811 NP_001092281 Q92599 SEPT8_HUMAN septin 8 isoform a 230 cell cycle septin complex GTP binding|protein binding ovary(2) 2 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CACATTCATGACTGCGTTAAT 0.577 NaN 0 0 0 0.006214 0 8 56 C5orf24 134553 broad.mit.edu 37 5 134191113 134191113 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:134191113G>T uc003kzx.2 + 2 584 c.523G>T c.(523-525)GGG>TGG p.G175W C5orf24_uc003kzy.3_Intron|C5orf24_uc003kzz.2_Missense_Mutation_p.G175W NM_152409 NP_689622 Q7Z6I8 CE024_HUMAN hypothetical protein LOC134553 175 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCAGTTCATGGGGTAGAGGA 0.478 NaN 1 0 4.36969e-10 0.001855 5.07897e-10 14 49 AFAP1L1 134265 broad.mit.edu 37 5 148695811 148695811 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:148695811G>C uc003lqh.2 + 11 1343 c.1212G>C c.(1210-1212)AAG>AAC p.K404N AFAP1L1_uc010jgy.2_Missense_Mutation_p.K404N|AFAP1L1_uc003lqi.1_Missense_Mutation_p.K19N NM_152406 NP_689619 Q8TED9 AF1L1_HUMAN actin filament associated protein 1-like 1 404 protein binding breast(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAGAAGAAGACACTGGCCG 0.612 NaN 0 0 0 0.001984 0 5 68 CSF1R 1436 broad.mit.edu 37 5 149433917 149433917 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:149433917G>C uc003lrl.2 - 20 2926 c.2731C>G c.(2731-2733)CAG>GAG p.Q911E CSF1R_uc011dcd.1_Intron|CSF1R_uc010jhc.2_RNA|CSF1R_uc003lrm.2_Missense_Mutation_p.Q911E NM_005211 NP_005202 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor precursor 911 Cytoplasmic (Potential). cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity haematopoietic_and_lymphoid_tissue(38)|lung(6)|central_nervous_system(3)|liver(3)|breast(2)|endometrium(1)|ovary(1) 54 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GCCTGCTCCTGAAGGAAGGAG 0.622 NaN 0 0 0 0.008871 0 19 35 FAT2 2196 broad.mit.edu 37 5 150901299 150901299 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:150901299C>A uc003lue.3 - 18 10868 c.10855G>T c.(10855-10857)GTG>TTG p.V3619L GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.V312L NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 3619 Cadherin 32.|Extracellular (Potential). epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACATGCCACACGTACACATGG 0.627 NaN 1 0 0.000602214 0.000602 0.000635495 5 28 RPL26L1 51121 broad.mit.edu 37 5 172396492 172396492 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:172396492G>C uc003mcc.2 + 4 428 c.386G>C c.(385-387)GGA>GCA p.G129A NM_016093 NP_057177 Q9UNX3 RL26L_HUMAN ribosomal protein L26-like 1 129 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome 0 Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CGACAAGTTGGAAAAGAGAAA 0.408 NaN 0 0 0 0.000602 0 5 95 TRIM41 90933 broad.mit.edu 37 5 180661586 180661586 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr5:180661586G>A uc003mne.1 + 6 2398 c.1704G>A c.(1702-1704)ACG>ACA p.T568T TRIM41_uc003mnc.1_3'UTR|TRIM41_uc003mnd.1_Intron|TRIM41_uc003mnf.1_Intron|TRIM41_uc003mng.1_Silent_p.T148T NM_033549 NP_291027 Q8WV44 TRI41_HUMAN tripartite motif-containing 41 isoform 1 568 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding 0 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CAGAACAGACGCTGCTGAGCC 0.632 NaN 0 0 0 0.000602 0 5 58 PRL 5617 broad.mit.edu 37 6 22294754 22294754 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:22294754G>C uc003ndp.2 - 2 607 c.88C>G c.(88-90)CCC>GCC p.P30A PRL_uc003ndo.2_Missense_Mutation_p.P31A|PRL_uc003ndq.2_Missense_Mutation_p.P30A|PRL_uc003ndr.1_RNA NM_000948 NP_000939 P01236 PRL_HUMAN prolactin precursor 30 cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth cytosol|extracellular region hormone activity|prolactin receptor binding 0 Ovarian(93;0.163) GGACAGATGGGCAAGGGGGCC 0.592 NaN 0 0 0 0.009096 0 4 30 C6orf10 10665 broad.mit.edu 37 6 32261017 32261017 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:32261017G>A uc011dpy.1 - 12 1606 c.1433C>T c.(1432-1434)TCA>TTA p.S478L C6orf10_uc011dpx.1_Intron NM_006781 NP_006772 Q5SRN2 CF010_HUMAN chromosome 6 open reading frame 10 478 Lys-rich. integral to membrane skin(1) 1 TAGTACACCTGACTCACTCTT 0.338 NaN 0 0 0 0.00499 0 18 179 DAXX 1616 broad.mit.edu 37 6 33288742 33288742 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:33288742G>A uc003oec.2 - 3 1014 c.810C>T c.(808-810)CGC>CGT p.R270R DAXX_uc011drd.1_Silent_p.R195R|DAXX_uc011dre.1_Silent_p.R282R|DAXX_uc003oed.2_Silent_p.R270R|DAXX_uc010juw.2_Silent_p.R195R NM_001350 NP_001341 Q9UER7 DAXX_HUMAN death-domain associated protein isoform a 270 activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent chromosome, centromeric region|cytosol|nucleolus|PML body androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding pancreas(18)|ovary(2)|skin(2)|prostate(1) 23 GCCGCTCAATGCGCCTGTTAA 0.597 NaN Mis|F|N Pancreatic neuroendocrine tumors 0 0 0 0.00623 0 41 59 BRPF3 27154 broad.mit.edu 37 6 36168216 36168216 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:36168216G>A uc003olv.3 + 2 341 c.117G>A c.(115-117)CGG>CGA p.R39R BRPF3_uc010jwb.2_Silent_p.R39R|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Silent_p.R39R NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 39 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding ovary(1)|skin(1) 2 AGGCCCAGCGGATTGTCGAGG 0.572 NaN 0 0 0 0.009096 0 4 65 PPP2R5D 5528 broad.mit.edu 37 6 42974675 42974675 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:42974675C>T uc003oth.2 + 4 435 c.349C>T c.(349-351)CTG>TTG p.L117L MEA1_uc010jyc.1_Intron|PPP2R5D_uc003otg.2_Silent_p.L85L|PPP2R5D_uc010jyd.2_Silent_p.L11L|PPP2R5D_uc011dva.1_5'UTR|PPP2R5D_uc003oti.2_5'UTR|PPP2R5D_uc003otj.2_5'UTR NM_006245 NP_006236 Q14738 2A5D_HUMAN delta isoform of regulatory subunit B56, protein 117 nervous system development|signal transduction cytoplasm|nucleus|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity breast(1)|central_nervous_system(1) 2 Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188) GCGGGAGGAGCTGTTTATCCA 0.562 NaN 0 0 0 0.004656 0 24 151 SLC35B2 347734 broad.mit.edu 37 6 44224183 44224183 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:44224183G>A uc003oxd.2 - 3 392 c.256C>T c.(256-258)CCC>TCC p.P86S SLC35B2_uc011dvt.1_Intron|SLC35B2_uc011dvu.1_Intron NM_178148 NP_835361 Q8TB61 S35B2_HUMAN solute carrier family 35, member B2 86 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity ovary(1)|central_nervous_system(1) 2 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GAGGCCTTGGGCTCATTGCCA 0.577 NaN 0 0 0 0.008291 0 11 75 CRISP2 7180 broad.mit.edu 37 6 49666126 49666126 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:49666126G>A uc003ozq.2 - 7 622 c.366C>T c.(364-366)GTC>GTT p.V122V CRISP2_uc003ozl.2_Silent_p.V122V|CRISP2_uc003ozn.2_Silent_p.V122V|CRISP2_uc003ozr.2_Silent_p.V122V|CRISP2_uc003ozo.2_Silent_p.V122V|CRISP2_uc003ozm.2_Silent_p.V122V|CRISP2_uc003ozp.2_Silent_p.V122V NM_001142408 NP_001135880 P16562 CRIS2_HUMAN cysteine-rich secretory protein 2 precursor 122 extracellular space skin(1) 1 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) CTACACCATAGACAAAATCTA 0.413 NaN 0 0 0 0.010729 0 11 69 TTK 7272 broad.mit.edu 37 6 80746227 80746227 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:80746227C>G uc003pjc.2 + 17 2034 c.1960C>G c.(1960-1962)CTG>GTG p.L654V TTK_uc003pjb.3_Missense_Mutation_p.L653V NM_003318 NP_003309 P33981 TTK_HUMAN TTK protein kinase 654 Protein kinase. mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation spindle ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(4)|stomach(2)|lung(2)|large_intestine(2)|pancreas(1) 11 all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2) BRCA - Breast invasive adenocarcinoma(397;0.0321) AGCTAACTTTCTGATAGTTGA 0.318 NaN 0 0 0 0.000602 0 5 59 DOPEY1 23033 broad.mit.edu 37 6 83834892 83834892 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:83834892G>C uc003pjs.1 + 14 1723 c.1463G>C c.(1462-1464)AGA>ACA p.R488T DOPEY1_uc011dyy.1_Missense_Mutation_p.R479T|DOPEY1_uc010kbl.1_Missense_Mutation_p.R479T NM_015018 NP_055833 Q5JWR5 DOP1_HUMAN dopey family member 1 488 protein transport ovary(2)|breast(1)|central_nervous_system(1) 4 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) AAGCCTACTAGAAGTATGAGG 0.284 NaN 0 0 0 0.000602 0 4 34 SIM1 6492 broad.mit.edu 37 6 100838763 100838763 + Missense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:100838763A>T uc003pqj.3 - 11 1982 c.1775T>A c.(1774-1776)CTG>CAG p.L592Q SIM1_uc010kcu.2_Missense_Mutation_p.L592Q NM_005068 NP_005059 P81133 SIM1_HUMAN single-minded homolog 1 592 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity ovary(4) 4 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AATGGAAGCCAGTTGGTCTGA 0.468 NaN 0 0 0 0.00308 0 8 65 C6orf170 221322 broad.mit.edu 37 6 121562637 121562637 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:121562637G>C uc003pyo.1 - 19 2287 c.2219C>G c.(2218-2220)GCA>GGA p.A740G C6orf170_uc003pyq.1_RNA|C6orf170_uc003pyp.1_Missense_Mutation_p.A259G NM_152730 NP_689943 Q96NH3 BROMI_HUMAN hypothetical protein LOC221322 740 multicellular organismal development cilium|cytoplasm Rab GTPase activator activity central_nervous_system(2)|ovary(1) 3 GBM - Glioblastoma multiforme(226;0.00521) AATGCCACCTGCTGCTGTTGA 0.338 NaN 0 0 0 0.001168 0 6 27 NKAIN2 154215 broad.mit.edu 37 6 124979332 124979332 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:124979332G>C uc003pzo.2 + 4 551 c.274G>C c.(274-276)GAA>CAA p.E92Q NKAIN2_uc003pzn.1_Missense_Mutation_p.E92Q|NKAIN2_uc003pzp.2_Missense_Mutation_p.E91Q|NKAIN2_uc010keq.2_Intron|NKAIN2_uc010ker.2_Missense_Mutation_p.E2Q NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN T-cell lymphoma breakpoint-associated target 1 92 Breakpoint for interstitial deletion to form SUSP1-NKAIN2. integral to membrane|plasma membrane 0 GBM - Glioblastoma multiforme(226;0.104) CTTCTTGCAGGAAACAGACCT 0.428 NaN 0 0 0 0.00308 0 8 38 GRM1 2911 broad.mit.edu 37 6 146755219 146755219 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:146755219G>C uc010khw.1 + 9 3342 c.2872G>C c.(2872-2874)GAG>CAG p.E958Q GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 958 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) TTACAACGTAGAGGAGGAGGA 0.582 NaN 0 0 0 0.010504 0 22 70 TIAM2 26230 broad.mit.edu 37 6 155500249 155500249 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:155500249C>T uc003qqb.2 + 13 3873 c.2600C>T c.(2599-2601)CCT>CTT p.P867L TIAM2_uc003qqe.2_Missense_Mutation_p.P867L|TIAM2_uc010kjj.2_Missense_Mutation_p.P400L|TIAM2_uc003qqf.2_Missense_Mutation_p.P243L|TIAM2_uc011efl.1_Missense_Mutation_p.P203L|TIAM2_uc003qqg.2_Missense_Mutation_p.P179L NM_012454 NP_036586 Q8IVF5 TIAM2_HUMAN T-cell lymphoma invasion and metastasis 2 867 RBD. apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|filopodium|growth cone|lamellipodium receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity ovary(3)|breast(1) 4 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053) TATTGCATCCCTGCACCATAT 0.388 NaN 0 0 0 0.004007 0 15 51 TCP1 6950 broad.mit.edu 37 6 160205738 160205738 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr6:160205738G>A uc003qsr.2 - 6 865 c.630C>T c.(628-630)CTC>CTT p.L210L TCP1_uc003qss.2_Silent_p.L55L|TCP1_uc010kjz.2_Silent_p.L210L|TCP1_uc003qst.2_Intron NM_030752 NP_110379 P17987 TCPA_HUMAN T-complex protein 1 isoform a 210 'de novo' posttranslational protein folding|tubulin complex assembly cell junction|Golgi apparatus ATP binding|unfolded protein binding breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06) AGCCACTGATGAGCATACTCT 0.413 NaN 0 0 0 0.006214 0 10 130 MPP6 51678 broad.mit.edu 37 7 24663374 24663374 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:24663374G>C uc003swx.2 + 3 387 c.88G>C c.(88-90)GAG>CAG p.E30Q MPP6_uc003swy.2_Missense_Mutation_p.E30Q NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 30 L27 1. protein complex assembly protein binding 0 GGGAATTATGGAGAATCCTAT 0.343 NaN 0 0 0 0.004482 0 7 36 ABCA13 154664 broad.mit.edu 37 7 48312668 48312668 + Silent SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:48312668C>A uc003toq.2 + 17 3430 c.3405C>A c.(3403-3405)GTC>GTA p.V1135V ABCA13_uc010kyr.2_Silent_p.V638V NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 1135 transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CAGCAAATGTCAGTGTGTTCA 0.353 NaN 1 0 1.08611e-07 0.010729 1.22684e-07 12 27 DTX2 113878 broad.mit.edu 37 7 76126675 76126675 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:76126675C>T uc003uff.3 + 7 1587 c.1031C>T c.(1030-1032)TCA>TTA p.S344L DTX2_uc011kgk.1_Missense_Mutation_p.S253L|DTX2_uc003ufg.3_Missense_Mutation_p.S344L|DTX2_uc003ufh.3_Missense_Mutation_p.S344L|DTX2_uc003ufj.3_Intron|DTX2_uc003ufk.3_Intron|DTX2_uc003ufl.1_Missense_Mutation_p.S7L|DTX2_uc003ufm.3_5'Flank NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 344 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 GTTCTGATGTCAGCCATTGGA 0.577 NaN 0 0 0 0.004656 0 22 138 ZNF498 221785 broad.mit.edu 37 7 99226951 99226951 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:99226951G>C uc003url.1 + 8 1270 c.943G>C c.(943-945)GGT>CGT p.G315R ZNF498_uc003urm.1_Missense_Mutation_p.G151R|ZNF498_uc010lge.1_Missense_Mutation_p.G151R|ZNF498_uc003urn.2_Intron|ZNF498_uc010lgf.1_Missense_Mutation_p.G243R|ZNF498_uc003uro.1_Missense_Mutation_p.G99R NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 315 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) GCAGGAGCCTGGTGGCCCTGC 0.637 NaN 0 0 0 0.006214 0 9 56 MUC17 140453 broad.mit.edu 37 7 100675897 100675897 + Silent SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:100675897C>G uc003uxp.1 + 3 1253 c.1200C>G c.(1198-1200)GTC>GTG p.V400V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 400 Extracellular (Potential).|59 X approximate tandem repeats.|4.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ATATGCCTGTCAGCACCATAT 0.463 NaN 0 0 0 0.01441 0 101 235 MET 4233 broad.mit.edu 37 7 116371801 116371801 + Missense_Mutation SNP T T G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:116371801T>G uc003vij.2 + 3 1467 c.1280T>G c.(1279-1281)GTT>GGT p.V427G MET_uc010lkh.2_Missense_Mutation_p.V427G|MET_uc011knc.1_Missense_Mutation_p.V427G|MET_uc011knd.1_Missense_Mutation_p.V427G|MET_uc011kne.1_Missense_Mutation_p.V427G|MET_uc011knf.1_Missense_Mutation_p.V427G|MET_uc011kng.1_Missense_Mutation_p.V427G|MET_uc011knh.1_Missense_Mutation_p.V427G|MET_uc011kni.1_Missense_Mutation_p.V427G|MET_uc011knj.1_5'UTR|MET_uc010lkg.2_Missense_Mutation_p.V427G|MET_uc011kna.1_Missense_Mutation_p.V427G|MET_uc011knb.1_Missense_Mutation_p.V427G NM_000245 NP_000236 P08581 MET_HUMAN met proto-oncogene isoform b precursor 427 Extracellular (Potential).|Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding upper_aerodigestive_tract(63)|lung(41)|kidney(18)|NS(10)|ovary(5)|thyroid(4)|central_nervous_system(4)|stomach(3)|liver(3)|pleura(2)|large_intestine(2)|breast(2)|testis(1)|skin(1) 159 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TTGCAGCGCGTTGACTTATTC 0.433 NaN Mis papillary renal|head-neck squamous cell papillary renal Hereditary_Papillary_Renal_Carcinoma_(type_1) 0 0 0 0.001168 0 5 42 ST7 7982 broad.mit.edu 37 7 116869938 116869938 + Missense_Mutation SNP A A C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:116869938A>C uc011knn.1 + 14 1470 c.1465A>C c.(1465-1467)ACC>CCC p.T489P ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR NM_021908 NP_068708 Q9NRC1 ST7_HUMAN suppression of tumorigenicity 7 isoform b Error:Variant_position_missing_in_Q9NRC1_after_alignment integral to membrane binding central_nervous_system(1)|skin(1) 2 all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847) STAD - Stomach adenocarcinoma(10;0.000512) LUSC - Lung squamous cell carcinoma(290;0.133) CACTCACCTCACCCGCCGCTG 0.507 NaN 0 0 0 0.004878 0 13 37 CALD1 800 broad.mit.edu 37 7 134635196 134635196 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:134635196G>A uc003vrz.2 + 9 2325 c.1866G>A c.(1864-1866)ATG>ATA p.M622I CALD1_uc003vry.2_Missense_Mutation_p.M367I|CALD1_uc003vsa.2_Missense_Mutation_p.M393I|CALD1_uc003vsb.2_Missense_Mutation_p.M367I|CALD1_uc010lmm.2_Missense_Mutation_p.M393I|CALD1_uc011kpt.1_Missense_Mutation_p.M141I|CALD1_uc003vsc.2_Missense_Mutation_p.M387I|CALD1_uc003vsd.2_Missense_Mutation_p.M361I|CALD1_uc011kpu.1_Missense_Mutation_p.M372I|CALD1_uc011kpv.1_Missense_Mutation_p.M231I|CALD1_uc003vse.2_Missense_Mutation_p.M486I NM_033138 NP_149129 Q05682 CALD1_HUMAN caldesmon 1 isoform 1 622 cellular component movement|muscle contraction cytosol|focal adhesion|myofibril actin binding|calmodulin binding|myosin binding|tropomyosin binding 0 GCCAGAAGATGCCAGAAGATG 0.418 NaN 0 0 0 0.000602 0 5 58 NOM1 64434 broad.mit.edu 37 7 156743110 156743110 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:156743110A>G uc003wmy.2 + 1 694 c.679A>G c.(679-681)AAA>GAA p.K227E NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 227 Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) GGAGTCTGGGAAAAATAGCGG 0.522 NaN 0 0 0 0.004007 0 13 74 PSD3 23362 broad.mit.edu 37 8 18393456 18393456 + Nonsense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:18393456C>A uc003wza.2 - 16 3044 c.2941G>T c.(2941-2943)GAA>TAA p.E981* PSD3_uc003wyx.3_Nonsense_Mutation_p.E310*|PSD3_uc003wyy.2_Nonsense_Mutation_p.E447*|PSD3_uc003wyz.2_Nonsense_Mutation_p.E282* NM_015310 NP_056125 Q9NYI0 PSD3_HUMAN ADP-ribosylation factor guanine nucleotide 982 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity ovary(3) 3 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) ACATACATTTCATAGCGGGTT 0.483 NaN 1 0 0.000673444 0.008291 0.00070694 10 38 KCNU1 157855 broad.mit.edu 37 8 36722033 36722034 + Missense_Mutation DNP CC CC AG TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:36722033_36722034CC>AG uc010lvw.2 + 19 2090_2091 c.2003_2004CC>AG c.(2002-2004)ACC>AAG p.T668K KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 668 Cytoplasmic (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) TCAAACTTCACCACCAGGTAAA 0.401 NaN 0 0 0 0.004672 0 25 54 ANK1 286 broad.mit.edu 37 8 41572563 41572563 + Silent SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:41572563G>T uc003xok.2 - 15 1716 c.1632C>A c.(1630-1632)GCC>GCA p.A544A NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoi.2_Silent_p.A544A|ANK1_uc003xoj.2_Silent_p.A544A|ANK1_uc003xol.2_Silent_p.A544A|ANK1_uc003xom.2_Silent_p.A577A NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 544 89 kDa domain.|ANK 16. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TCCCGTACTTGGCCGCCACGT 0.627 NaN 1 0 0.000602214 0.000602 0.000635495 4 55 CHD7 55636 broad.mit.edu 37 8 61767054 61767054 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 G A G G Valid Somatic Phase_I WXS Fluidigm Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:61767054G>A uc003xue.2 + 32 7385 c.6908G>A c.(6907-6909)AGA>AAA p.R2303K NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2303 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) CTTCATGAAAGAACATTTGCC 0.443 NaN 0 0 0 0.00308 0 8 52 DNAJC5B 85479 broad.mit.edu 37 8 66963856 66963856 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:66963856G>C uc003xvs.1 + 3 365 c.74G>C c.(73-75)GGT>GCT p.G25A DNAJC5B_uc003xvt.1_RNA NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 25 J. protein folding membrane heat shock protein binding|unfolded protein binding 0 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) GAAATTCTTGGTCTGCATAAG 0.398 NaN 0 0 0 0.003163 0 14 78 RAD21 5885 broad.mit.edu 37 8 117866648 117866648 + Missense_Mutation SNP C C G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:117866648C>G uc003yod.2 - 9 1285 c.997G>C c.(997-999)GAT>CAT p.D333H NM_006265 NP_006256 O60216 RAD21_HUMAN RAD21 homolog 333 Interaction with WAPAL and PDS5B. 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) GTCTTGCTATCCAACTCTTTG 0.378 NaN 0 0 0 0.010771 0 41 88 TAF2 6873 broad.mit.edu 37 8 120790295 120790295 + Silent SNP T T C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:120790295T>C uc003you.2 - 18 2598 c.2328A>G c.(2326-2328)TTA>TTG p.L776L NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 776 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TGATTAAGTCTAAAATAAATG 0.264 NaN 0 0 0 0.000602 0 5 20 MTSS1 9788 broad.mit.edu 37 8 125577982 125577982 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:125577982C>T uc003yrk.2 - 9 1279 c.745G>A c.(745-747)GGT>AGT p.G249S NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_5'UTR|MTSS1_uc011lio.1_Missense_Mutation_p.G139S|MTSS1_uc003yri.2_Missense_Mutation_p.G49S|MTSS1_uc003yrj.2_Missense_Mutation_p.G249S|MTSS1_uc003yrl.2_Missense_Mutation_p.G253S NM_014751 NP_055566 O43312 MTSS1_HUMAN metastasis suppressor 1 249 IMD.|Ser-rich. actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway actin cytoskeleton|endocytic vesicle|ruffle actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding ovary(1) 1 Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) TAATCAGAACCTTTCAAGTCC 0.542 NaN 0 0 0 0.004672 0 3 31 MYC 4609 broad.mit.edu 37 8 128750529 128750529 + Missense_Mutation SNP C C A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:128750529C>A uc003ysh.1 + 3 534 c.21C>A c.(19-21)TTC>TTA p.F7L MYC_uc003ysi.2_Missense_Mutation_p.F22L NM_002467 NP_002458 P01106 MYC_HUMAN myc proto-oncogene protein 7 SF -> TI (in Ref. 5; no nucleotide entry). branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity lung(3)|ovary(1)|central_nervous_system(1)|pancreas(1) 6 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) ACGTTAGCTTCACCAACAGGA 0.587 3 A|T IGK@|BCL5|BCL7A |BTG1|TRA@|IGH@ Burkitt lymphoma| amplified in other cancers|B-CLL OREG0018982 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 0 1.08312e-15 0.009535 1.29651e-15 29 61 TG 7038 broad.mit.edu 37 8 133948082 133948082 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:133948082G>A uc003ytw.2 + 25 5055 c.5014G>A c.(5014-5016)GAT>AAT p.D1672N TG_uc010mdw.2_Missense_Mutation_p.D431N|TG_uc011ljb.1_Missense_Mutation_p.D105N NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1672 Type IIIA. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CCATGGTCAAGATTCTCCAGC 0.527 NaN 0 0 0 0.00308 0 8 34 ST3GAL1 6482 broad.mit.edu 37 8 134475669 134475669 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:134475669C>T uc003yuk.2 - 8 1546 c.717G>A c.(715-717)GTG>GTA p.V239V ST3GAL1_uc003yum.2_Silent_p.V239V NM_173344 NP_775479 Q11201 SIA4A_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 239 Lumenal (Potential). protein glycosylation extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity 0 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TATCCTGTTTCACTCTGATCT 0.547 NaN 0 0 0 0.009096 0 3 17 CPSF1 29894 broad.mit.edu 37 8 145624759 145624759 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr8:145624759C>T uc003zcj.2 - 14 1374 c.1299G>A c.(1297-1299)GCG>GCA p.A433A NM_013291 NP_037423 Q10570 CPSF1_HUMAN cleavage and polyadenylation specific factor 1, 433 mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex mRNA 3'-UTR binding|protein binding skin(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;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055) CCGACTTACCCGCAGCTGCAC 0.657 NaN 0 0 0 0.001984 0 7 22 CDC37L1 55664 broad.mit.edu 37 9 4679834 4679834 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:4679834G>C uc003zio.2 + 1 277 c.67G>C c.(67-69)GAG>CAG p.E23Q NM_017913 NP_060383 Q7L3B6 CD37L_HUMAN cell division cycle 37 homolog (S. 23 Self-association. cytoplasm 0 all_hematologic(13;0.137) Breast(48;0.238) GBM - Glioblastoma multiforme(50;0.0318) GGCTGAGGAAGAGAGTGACTT 0.697 NaN OREG0019085 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 0 0 0 0.001984 0 7 40 TEK 7010 broad.mit.edu 37 9 27197331 27197331 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:27197331G>C uc003zqi.3 + 12 2085 c.1643G>C c.(1642-1644)GGT>GCT p.G548A TEK_uc011lno.1_Missense_Mutation_p.G505A|TEK_uc011lnp.1_Missense_Mutation_p.G401A|TEK_uc003zqj.1_Missense_Mutation_p.G482A NM_000459 NP_000450 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial precursor 548 Extracellular (Potential).|Fibronectin type-III 2. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ovary(3)|central_nervous_system(3)|breast(3)|lung(2)|kidney(1) 12 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CCTCCAAGAGGTCTAAATCTC 0.318 NaN 0 0 0 0.00308 0 8 72 CCL27 10850 broad.mit.edu 37 9 34662358 34662358 + Silent SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:34662358G>C uc003zvm.1 - 2 185 c.126C>G c.(124-126)CTC>CTG p.L42L NM_006664 NP_006655 Q9Y4X3 CCL27_HUMAN small inducible cytokine A27 precursor 42 cell-cell signaling|chemotaxis|immune response extracellular space chemokine activity 0 all_epithelial(49;0.102) STAD - Stomach adenocarcinoma(86;0.178) GBM - Glioblastoma multiforme(74;0.173) GCTTGTCTGAGAGTGGCTTTC 0.567 NaN 0 0 0 0.008291 0 9 27 UNC13B 10497 broad.mit.edu 37 9 35396570 35396570 + Silent SNP C C T rs150684985 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:35396570C>T uc003zwq.2 + 26 3451 c.3159C>T c.(3157-3159)GTC>GTT p.V1053V UNC13B_uc003zwr.2_Silent_p.V1053V NM_006377 NP_006368 O14795 UN13B_HUMAN UNC13 (C. elegans)-like 1053 MHD1. excretion|induction of apoptosis|intracellular signal transduction cell junction|Golgi apparatus|synapse metal ion binding|receptor activity p.V1053V(1) ovary(3)|large_intestine(1)|skin(1) 5 all_epithelial(49;0.212) LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194) ATCTGCCTGTCCTCCAGGGGC 0.547 NaN 0 0 0 0.014323 0 23 51 GDA 9615 broad.mit.edu 37 9 74856157 74856157 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:74856157G>A uc004aiq.2 + 11 1261 c.1078G>A c.(1078-1080)GAG>AAG p.E360K GDA_uc011lse.1_Missense_Mutation_p.E286K|GDA_uc011lsf.1_Missense_Mutation_p.E286K|GDA_uc004air.2_Missense_Mutation_p.E360K|GDA_uc010mow.1_RNA|GDA_uc004ais.2_Missense_Mutation_p.E282K NM_004293 NP_004284 Q9Y2T3 GUAD_HUMAN guanine deaminase 360 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) TAAGGTAAATGAGAAAAGCCT 0.403 NaN 0 0 0 0.001168 0 6 55 VPS13A 23230 broad.mit.edu 37 9 79974283 79974283 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:79974283G>C uc004akr.2 + 58 8330 c.8070G>C c.(8068-8070)ATG>ATC p.M2690I VPS13A_uc004akp.3_Missense_Mutation_p.M2690I|VPS13A_uc004akq.3_Missense_Mutation_p.M2690I|VPS13A_uc004aks.2_Missense_Mutation_p.M2651I NM_033305 NP_150648 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13A isoform A 2690 Golgi to endosome transport|protein transport intracellular protein binding pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1) 10 GTATTGTCATGAGATCTGCAG 0.308 NaN 0 0 0 0.009096 0 4 21 ZCCHC6 79670 broad.mit.edu 37 9 88967883 88967883 + Missense_Mutation SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:88967883C>T uc004aoq.2 - 2 447 c.232G>A c.(232-234)GCA>ACA p.A78T ZCCHC6_uc011ltf.1_RNA|ZCCHC6_uc004aor.2_RNA|ZCCHC6_uc004aos.2_RNA|ZCCHC6_uc004aot.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aou.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aov.2_Missense_Mutation_p.A78T|ZCCHC6_uc004aow.2_Missense_Mutation_p.A78T|ZCCHC6_uc010mqf.1_Missense_Mutation_p.A78T NM_024617 NP_078893 Q5VYS8 TUT7_HUMAN zinc finger, CCHC domain containing 6 78 RNA 3'-end processing nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding ovary(2) 2 TTTTTAAATGCATATGGATTG 0.418 NaN 0 0 0 0.003163 0 15 144 TDRD7 23424 broad.mit.edu 37 9 100245529 100245529 + Silent SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:100245529G>A uc004axj.2 + 15 3036 c.2811G>A c.(2809-2811)AAG>AAA p.K937K TDRD7_uc011lux.1_Silent_p.K863K|TDRD7_uc010msp.1_Silent_p.K189K|TDRD7_uc011luy.1_Silent_p.K257K NM_014290 NP_055105 Q8NHU6 TDRD7_HUMAN tudor domain containing 7 937 Interacts with CDK17 (By similarity).|Interacts with CABLES1 (By similarity). lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis chromatoid body mRNA binding ovary(2)|pancreas(1) 3 Acute lymphoblastic leukemia(62;0.158) AGATACATAAGTTGGAAGTTC 0.478 NaN 0 0 0 0.001168 0 6 75 PAPPA 5069 broad.mit.edu 37 9 118950282 118950282 + Missense_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:118950282A>G uc004bjn.2 + 2 1646 c.1265A>G c.(1264-1266)GAG>GGG p.E422G PAPPA_uc011lxp.1_Missense_Mutation_p.E215G|PAPPA_uc011lxq.1_Missense_Mutation_p.E215G NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 422 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ATTGGGGATGAGAACTGTGAC 0.627 NaN 0 0 0 0.007413 0 19 36 STRBP 55342 broad.mit.edu 37 9 125898437 125898437 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:125898437G>C uc004bns.2 - 16 2086 c.1656C>G c.(1654-1656)TTC>TTG p.F552L STRBP_uc004bnt.2_Missense_Mutation_p.F370L|STRBP_uc004bnu.2_Missense_Mutation_p.F538L|STRBP_uc004bnv.2_Missense_Mutation_p.F552L|STRBP_uc004bnr.2_Missense_Mutation_p.F111L NM_018387 NP_060857 Q96SI9 STRBP_HUMAN spermatid perinuclear RNA binding protein 552 DRBM 2. multicellular organismal development cytoplasm|nucleus DNA binding breast(1)|skin(1) 2 CTGCGCCTCTGAATTTCTGTC 0.393 NaN 0 0 0 0.006214 0 10 71 SH2D3C 10044 broad.mit.edu 37 9 130507349 130507349 + Missense_Mutation SNP G G T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:130507349G>T uc004bsc.2 - 7 1436 c.1294C>A c.(1294-1296)CCT>ACT p.P432T SH2D3C_uc010mxo.2_Missense_Mutation_p.P272T|SH2D3C_uc004bry.2_Missense_Mutation_p.P274T|SH2D3C_uc004brz.3_Missense_Mutation_p.P78T|SH2D3C_uc011mak.1_Missense_Mutation_p.P78T|SH2D3C_uc004bsa.2_Missense_Mutation_p.P275T|SH2D3C_uc004bsb.2_Missense_Mutation_p.P364T NM_170600 NP_733745 Q8N5H7 SH2D3_HUMAN SH2 domain containing 3C isoform a 432 JNK cascade|small GTPase mediated signal transduction cytoplasm|membrane guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity ovary(1) 1 GTGGCAGAAGGGGCTGCAGGG 0.627 NaN 1 0 3.27435e-08 0.00245 3.71959e-08 15 27 PKN3 29941 broad.mit.edu 37 9 131475651 131475651 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr9:131475651C>T uc004bvw.2 + 8 1470 c.1077C>T c.(1075-1077)GTC>GTT p.V359V PKN3_uc010myh.2_Silent_p.V359V|PKN3_uc011mbk.1_5'UTR NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN protein kinase PKNbeta 359 signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity stomach(2)|lung(2) 4 AGACCTTTGTCATCCCACTGG 0.652 NaN 0 0 0 0.004482 0 8 31 EDA 1896 broad.mit.edu 37 X 69255458 69255458 + Nonstop_Mutation SNP A A G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:69255458A>G uc004dxs.2 + 8 1417 c.1175A>G c.(1174-1176)TAG>TGG p.*392W EDA_uc004dxr.2_Nonstop_Mutation_p.*390W|EDA_uc011mpj.1_Nonstop_Mutation_p.*387W NM_001399 NP_001390 Q92838 EDA_HUMAN ectodysplasin A isoform EDA-A1 392 cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction collagen|cytoskeleton|membrane fraction tumor necrosis factor receptor binding ovary(2)|large_intestine(1) 3 CCTGCATCCTAGATTCCCCCC 0.567 NaN 0 0 0 0.009535 0 31 34 ITGB1BP2 26548 broad.mit.edu 37 X 70522288 70522288 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:70522288G>A uc004dzr.1 + 4 228 c.199G>A c.(199-201)GAG>AAG p.E67K BCYRN1_uc011mpt.1_Intron|ITGB1BP2_uc004dzs.1_Missense_Mutation_p.E49K NM_012278 NP_036410 Q9UKP3 ITBP2_HUMAN integrin beta 1 binding protein 2 67 muscle organ development|signal transduction SH3 domain binding ovary(1) 1 Renal(35;0.156) ACACTGTGCTGAGAAGCTTCC 0.458 NaN 0 0 0 0.004482 0 8 16 IL13RA1 3597 broad.mit.edu 37 X 117892057 117892057 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:117892057C>T uc004eqs.2 + 5 571 c.528C>T c.(526-528)ATC>ATT p.I176I IL13RA1_uc004eqr.1_Silent_p.I176I|IL13RA1_uc004eqt.1_Silent_p.I176I NM_001560 NP_001551 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 precursor 176 Extracellular (Potential). interleukin-13 receptor complex cytokine receptor activity 0 GTGAAAACATCTTTAGAGAAG 0.348 NaN 0 0 0 0.006122 0 18 46 IL13RA1 3597 broad.mit.edu 37 X 117900535 117900535 + Missense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:117900535G>A uc004eqs.2 + 7 914 c.871G>A c.(871-873)GTG>ATG p.V291M IL13RA1_uc004eqt.1_Missense_Mutation_p.V291M NM_001560 NP_001551 P78552 I13R1_HUMAN interleukin 13 receptor, alpha 1 precursor 291 Extracellular (Potential). interleukin-13 receptor complex cytokine receptor activity 0 TGAGAGAAATGTGGAGGTCAG 0.333 NaN 0 0 0 0.00333 0 22 32 DCAF12L2 340578 broad.mit.edu 37 X 125298848 125298848 + Missense_Mutation SNP G G C TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:125298848G>C uc004euk.1 - 1 1087 c.1060C>G c.(1060-1062)CGG>GGG p.R354G NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 354 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CTCAGCGACCGCACGCCTGTG 0.637 NaN 0 0 0 0.004482 0 9 40 SMARCA1 6594 broad.mit.edu 37 X 128614761 128614761 + Nonsense_Mutation SNP G G A TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:128614761G>A uc004eun.3 - 19 2472 c.2359C>T c.(2359-2361)CAG>TAG p.Q787* SMARCA1_uc004eup.3_Nonsense_Mutation_p.Q775*|SMARCA1_uc011muk.1_Nonsense_Mutation_p.Q787*|SMARCA1_uc011mul.1_Nonsense_Mutation_p.Q775* NM_003069 NP_003060 P28370 SMCA1_HUMAN SWI/SNF-related matrix-associated 787 ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding ovary(3)|skin(1) 4 TGAAAATCCTGAACATTTGGC 0.343 NaN 0 0 0 0.00245 0 13 12 TKTL1 8277 broad.mit.edu 37 X 153539540 153539540 + Silent SNP C C T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:153539540C>T uc004fkg.2 + 5 807 c.621C>T c.(619-621)CAC>CAT p.H207H TKTL1_uc011mzl.1_Silent_p.H201H|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Silent_p.H151H NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 207 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGGTGAAGCACAAGCCCACTG 0.587 NaN 0 0 0 0.003954 0 25 82 TKTL1 8277 broad.mit.edu 37 X 153539541 153539541 + Nonsense_Mutation SNP A A T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chrX:153539541A>T uc004fkg.2 + 5 808 c.622A>T c.(622-624)AAG>TAG p.K208* TKTL1_uc011mzl.1_Nonsense_Mutation_p.K202*|TKTL1_uc011mzm.1_Intron|TKTL1_uc004fkh.2_Nonsense_Mutation_p.K152* NM_012253 NP_036385 P51854 TKTL1_HUMAN transketolase-like 1 isoform a 208 glucose catabolic process|thiamine metabolic process cytoplasm|nucleus metal ion binding|transketolase activity ovary(3)|skin(1) 4 all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GGTGAAGCACAAGCCCACTGC 0.587 NaN 0 0 0 0.003954 0 25 83 ADAMTS8 11095 broad.mit.edu 37 11 130286913 130286925 + Frame_Shift_Del DEL TGGTCCCGATGTC TGGTCCCGATGTC - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr11:130286913_130286925delTGGTCCCGATGTC uc001qgg.3 - 3 1364_1376 c.1006_1018delGACATCGGGACCA c.(1006-1020)GACATCGGGACCATTfs p.D336fs NM_007037 NP_008968 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 336_340 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1) 1 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GGGTCACAAATGGTCCCGATGTCTGCCACACCC 0.601 NaN NaN NaN NaN NaN NaN 8 136 --- --- RASSF3 283349 broad.mit.edu 37 12 65088574 65088583 + Frame_Shift_Del DEL ATTTCTTGCG ATTTCTTGCG - rs147804503 TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:65088574_65088583delATTTCTTGCG uc001ssd.2 + 5 719_728 c.599_608delATTTCTTGCG c.(598-609)AATTTCTTGCGCfs p.N200fs RASSF3_uc009zqn.2_RNA|RASSF3_uc001sse.2_Frame_Shift_Del_p.N130fs NM_178169 NP_835463 Q86WH2 RASF3_HUMAN Ras association (RalGDS/AF-6) domain family 200_203 SARAH. signal transduction cytoplasm|microtubule identical protein binding 0 Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132) GBM - Glioblastoma multiforme(28;0.0611) GAACTACAGAATTTCTTGCGCATCTTGGAC 0.481 NaN NaN NaN NaN NaN NaN 14 74 --- --- CRY1 1407 broad.mit.edu 37 12 107393605 107393606 + Frame_Shift_Ins INS - - T TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr12:107393605_107393606insT uc001tmi.3 - 7 1719_1720 c.860_861insA c.(859-861)TATfs p.Y287fs NM_004075 NP_004066 Q16526 CRY1_HUMAN cryptochrome 1 (photolyase-like) 287 FAD-binding. DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding ovary(3) 3 ACAGTTGCCCATAAAGGGAAAG 0.351 NaN NaN NaN NaN NaN NaN 19 55 --- --- PIPOX 51268 broad.mit.edu 37 17 27380490 27380490 + Frame_Shift_Del DEL C C - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:27380490delC uc002hdr.1 + 4 863 c.537delC c.(535-537)AACfs p.N179fs NM_016518 NP_057602 Q9P0Z9 SOX_HUMAN pipecolic acid oxidase 179 tetrahydrofolate metabolic process peroxisome L-pipecolate oxidase activity|sarcosine oxidase activity 0 Lung NSC(42;0.015) Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) Glycine(DB00145) TGGAGATAAACCCAGGGCTAC 0.542 NaN NaN NaN NaN NaN NaN 7 90 --- --- KIAA1267 284058 broad.mit.edu 37 17 44248783 44248783 + Frame_Shift_Del DEL G G - rs142096969 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:44248783delG uc002ikb.2 - 1 812 c.727delC c.(727-729)CAAfs p.Q243fs KIAA1267_uc002ikc.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc002ikd.2_Frame_Shift_Del_p.Q243fs|KIAA1267_uc010dav.2_Frame_Shift_Del_p.Q243fs NM_015443 NP_056258 Q7Z3B3 K1267_HUMAN hypothetical protein LOC284058 243 MLL1 complex protein binding skin(2) 2 Melanoma(429;0.211) CTGCTTCCTTGAAGTGCCGGC 0.438 NaN NaN NaN NaN NaN NaN 12 138 --- --- KCNJ16 3773 broad.mit.edu 37 17 68129040 68129055 + Frame_Shift_Del DEL TAGCCAAAGATAACTT TAGCCAAAGATAACTT - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr17:68129040_68129055delTAGCCAAAGATAACTT uc002jin.2 + 5 1298_1313 c.812_827delTAGCCAAAGATAACTT c.(811-828)GTAGCCAAAGATAACTTTfs p.V271fs KCNJ16_uc002jio.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jip.2_Frame_Shift_Del_p.V271fs|KCNJ16_uc002jiq.2_Frame_Shift_Del_p.V303fs NM_018658 NP_061128 Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel J16 271_276 Cytoplasmic (By similarity). synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(1)|central_nervous_system(1)|skin(1) 3 Breast(10;2.96e-09) CGCAAAGCAGTAGCCAAAGATAACTTTGAGATTTTG 0.449 NaN NaN NaN NaN NaN NaN 10 139 --- --- CEP68 23177 broad.mit.edu 37 2 65299062 65299073 + In_Frame_Del DEL CTGCCAGATTCC CTGCCAGATTCC - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:65299062_65299073delCTGCCAGATTCC uc002sdl.3 + 3 1046_1057 c.832_843delCTGCCAGATTCC c.(832-843)CTGCCAGATTCCdel p.LPDS278del CEP68_uc002sdj.2_In_Frame_Del_p.LPDS278del|CEP68_uc010yqb.1_In_Frame_Del_p.LPDS278del|CEP68_uc002sdk.3_In_Frame_Del_p.LPDS278del|CEP68_uc010yqc.1_In_Frame_Del_p.LPDS278del|CEP68_uc010yqd.1_In_Frame_Del_p.LPDS278del NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 278_281 centrosome organization centrosome skin(1) 1 GGCCTGTGTGCTGCCAGATTCCCTGCCTCCAT 0.594 NaN NaN NaN NaN NaN NaN 8 134 --- --- NAT8 9027 broad.mit.edu 37 2 73868318 73868337 + Frame_Shift_Del DEL ACTGTCCACAAAGAGATGAA ACTGTCCACAAAGAGATGAA - rs13538 byFrequency TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:73868318_73868337delACTGTCCACAAAGAGATGAA uc002sji.1 - 2 586_605 c.419_438delTTCATCTCTTTGTGGACAGT c.(418-438)TTTCATCTCTTTGTGGACAGTfs p.F140fs NM_003960 NP_003951 Q9UHE5 NAT8_HUMAN N-acetyltransferase 8 140_146 N-acetyltransferase. gastrulation with mouth forming second|response to drug integral to membrane N-acetyltransferase activity ovary(1) 1 GACGGTGCTCACTGTCCACAAAGAGATGAAACAGCTGCAA 0.568 NaN NaN NaN NaN NaN NaN 8 76 --- --- GCC2 9648 broad.mit.edu 37 2 109086923 109086924 + Frame_Shift_Ins INS - - G TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr2:109086923_109086924insG uc002tec.2 + 6 1292_1293 c.1138_1139insG c.(1138-1140)CGGfs p.R380fs GCC2_uc002ted.2_Frame_Shift_Ins_p.R279fs NM_181453 NP_852118 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain-containing 2 380 Potential. Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding ovary(1) 1 TTTTCATGAACGGGAAGACTTA 0.282 NaN NaN NaN NaN NaN NaN 35 78 --- --- OR2A12 346525 broad.mit.edu 37 7 143793122 143793127 + In_Frame_Del DEL AGATCA AGATCA - TCGA-K4-A3WS-01A-11D-A22Z-08 TCGA-K4-A3WS-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 98d6bf3c-c9bf-484e-bd1e-b610b255e9a7 0c62c49c-bd98-458e-b702-33bf067420f8 g.chr7:143793122_143793127delAGATCA uc011kty.1 + 1 922_927 c.922_927delAGATCA c.(922-927)AGATCAdel p.RS308del NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 308_309 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) TTGGAAACAGAGATCAATGTGAAGAA 0.427 NaN NaN NaN NaN NaN NaN 7 141 --- ---