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 ACHILLES_Top_Genes CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_status validation_method validation_tumor_sample validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut HES4 57801 broad.mit.edu 37 1 935138 935138 + Silent SNP G G C rs140166926 byFrequency TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:935138G>C uc001aci.2 - 2 337 c.138C>G c.(136-138)CGC>CGG p.R46R HES4_uc010nyc.1_Silent_p.R72R NM_021170 NP_066993 Q9HCC6 HES4_HUMAN hairy and enhancer of split 4 isoform 2 46 Basic motif. cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;9.36e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.41e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00237)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TACGCGCTCGGCGCCGCTTCT 0.701 NA 8 36 0 0 0.004007 0 0 TMEM201 199953 broad.mit.edu 37 1 9658630 9658630 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:9658630C>T uc001apz.2 + 4 565 c.553C>T c.(553-555)CTG>TTG p.L185L TMEM201_uc001apy.2_Silent_p.L185L NM_001130924 NP_001124396 Q5SNT2 TM201_HUMAN transmembrane protein 201 isoform 1 185 integral to membrane|nuclear inner membrane 0 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) GCTGCGCGCCCTGTTGCTCAG 0.642 NA 24 49 0 0 0.004656 0 0 PEX14 5195 broad.mit.edu 37 1 10690005 10690005 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:10690005G>A uc001arn.2 + 9 1116 c.1095G>A c.(1093-1095)CGG>CGA p.R365R PEX14_uc009vmv.2_Silent_p.R301R|PEX14_uc010oam.1_Silent_p.R301R|PEX14_uc010oan.1_Silent_p.R322R|PEX14_uc009vmw.2_Silent_p.R301R NM_004565 NP_004556 O75381 PEX14_HUMAN peroxisomal biogenesis factor 14 365 negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport integral to membrane|nucleus|peroxisomal membrane|protein complex protein N-terminus binding|transcription corepressor activity breast(1) 1 Ovarian(185;0.203) all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419) AGAAGCTGCGGCGGCCCGAGG 0.677 NA 21 38 0 0 0.012319 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12836257 12836257 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:12836257C>T uc001aui.2 + 2 886 c.859C>T c.(859-861)CTC>TTC p.L287F NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 287 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGACCAGCTGCTCAGGTGAGG 0.493 NA 24 176 0 0 0.004656 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12939691 12939691 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:12939691C>T uc001aun.2 - 4 1182 c.1111G>A c.(1111-1113)GCC>ACC p.A371T NM_001009611 NP_001009611 O60810 PRAM4_HUMAN PRAME family member 4 371 LRR 5. ovary(1) 1 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCAAGATGGCGTTGACTTGG 0.517 NA 72 381 0 0 0.01441 0 0 EPHA2 1969 broad.mit.edu 37 1 16464843 16464843 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:16464843C>T uc001aya.1 - 4 1043 c.906G>A c.(904-906)GAG>GAA p.E302E EPHA2_uc010oca.1_Silent_p.E302E NM_004431 NP_004422 P29317 EPHA2_HUMAN ephrin receptor EphA2 precursor 302 Extracellular (Potential).|Cys-rich. activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane ATP binding|ephrin receptor activity|protein binding lung(3)|central_nervous_system(3)|stomach(2)|ovary(2) 10 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649) Dasatinib(DB01254) AGGTGGCACCCTCAGGGGATG 0.612 NA 10 49 0 0 0.008291 0 0 HP1BP3 50809 broad.mit.edu 37 1 21071463 21071463 + Nonsense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:21071463T>A uc001bdw.1 - 13 1629 c.1489A>T c.(1489-1491)AAA>TAA p.K497* HP1BP3_uc001bdv.1_Nonsense_Mutation_p.K459*|HP1BP3_uc010odh.1_Nonsense_Mutation_p.K459*|HP1BP3_uc001bdy.1_Nonsense_Mutation_p.K497*|HP1BP3_uc010odf.1_Nonsense_Mutation_p.K156*|HP1BP3_uc010odg.1_Nonsense_Mutation_p.K345* NM_016287 NP_057371 Q5SSJ5 HP1B3_HUMAN HP1-BP74 497 Lys-rich. nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|skin(1) 2 all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201) GGAGGTGCTTTCTTAGGCAAG 0.562 NA 24 107 0 0 0.016522 0 0 PTPRU 10076 broad.mit.edu 37 1 29601961 29601961 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:29601961G>T uc001bru.2 + 8 1256 c.1146G>T c.(1144-1146)GAG>GAT p.E382D PTPRU_uc001brv.2_Missense_Mutation_p.E382D|PTPRU_uc001brw.2_Missense_Mutation_p.E382D|PTPRU_uc009vtq.2_Missense_Mutation_p.E382D|PTPRU_uc009vtr.2_Missense_Mutation_p.E382D NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 382 Extracellular (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) ATTCTCCAGAGCCCATGAGGG 0.403 NA 31 27 5.60225e-13 7.23905e-13 0.009535 1 0 TMEM39B 55116 broad.mit.edu 37 1 32557579 32557579 + Nonsense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:32557579C>A uc010ogv.1 + 6 1040 c.894C>A c.(892-894)TAC>TAA p.Y298* TMEM39B_uc010ogt.1_RNA|TMEM39B_uc010ogu.1_Nonsense_Mutation_p.Y171*|TMEM39B_uc001bue.3_Nonsense_Mutation_p.Y299*|TMEM39B_uc001buf.3_Nonsense_Mutation_p.Y99*|TMEM39B_uc010ogw.1_Nonsense_Mutation_p.Y99* NM_018056 NP_060526 Q9GZU3 TM39B_HUMAN transmembrane protein 39B 298 Helical; (Potential). integral to membrane 0 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) TGAGCGCCTACTATGTGGCCT 0.582 NA 23 52 1.42536e-11 1.75712e-11 0.004656 1 0 CSMD2 114784 broad.mit.edu 37 1 33985220 33985220 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:33985220C>A uc001bxn.1 - 69 10391 c.10362G>T c.(10360-10362)CGG>CGT p.R3454R CSMD2_uc001bxm.1_Silent_p.R3598R NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 3454 Cytoplasmic (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CAAATGTGGCCCGAACATTGG 0.532 NA 109 555 1.9213e-43 3.17014e-43 0.01441 1 0 DLGAP3 58512 broad.mit.edu 37 1 35365726 35365726 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:35365726G>A uc001byc.2 - 2 1256 c.1256C>T c.(1255-1257)GCA>GTA p.A419V NM_001080418 NP_001073887 O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated 419 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane ovary(3) 3 Myeloproliferative disorder(586;0.0393) TCGGGCGACTGCTTTGGGAGA 0.657 NA 35 120 0 0 0.007835 0 0 KIAA0754 643314 broad.mit.edu 37 1 39878353 39878353 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:39878353C>G uc009vvt.1 + 1 3178 c.2416C>G c.(2416-2418)CTA>GTA p.L806V 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 670 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) AGATTCATTCCTAAATATTTT 0.453 NA 50 38 0 0 0.01441 0 0 RLF 6018 broad.mit.edu 37 1 40627278 40627278 + Silent SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:40627278A>T uc001cfc.3 + 1 238 c.207A>T c.(205-207)TCA>TCT p.S69S NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 69 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) CGGAGGTCTCATCTTTGAACT 0.662 NA 33 66 0 0 0.013726 0 0 GUCA2B 2981 broad.mit.edu 37 1 42619102 42619102 + Translation_Start_Site SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:42619102G>T uc001chc.1 + 1 11 c.-19G>T c.(-21--17)CAGGG>CATGG NM_007102 NP_009033 Q16661 GUC2B_HUMAN guanylate cyclase activator 2B precursor excretion extracellular region calcium sensitive guanylate cyclase activator activity 0 Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) GACAGCGGCAGGGGGAACCCA 0.642 NA 44 20 1.23713e-20 1.75158e-20 0.01441 1 0 CYP4B1 1580 broad.mit.edu 37 1 47282729 47282730 + Missense_Mutation DNP GG GG TT TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:47282729_47282730GG>TT uc001cqm.3 + 9 1164_1165 c.1080_1081GG>TT c.(1078-1083)CTGGGC>CTTTGC p.G361C CYP4B1_uc001cqn.3_Missense_Mutation_p.G362C|CYP4B1_uc009vym.2_Missense_Mutation_p.G347C|CYP4B1_uc010omk.1_Missense_Mutation_p.G198C NM_000779 NP_000770 P13584 CP4B1_HUMAN cytochrome P450, family 4, subfamily B, 361 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(166;0.155) GGGATGATCTGGGCAAAATGAC 0.545 NA 32 198 0 0 0.004672 0 0 C1orf175 374977 broad.mit.edu 37 1 55119167 55119167 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:55119167G>T uc010ooe.1 + 3 892 c.568G>T c.(568-570)GGC>TGC p.G190C C1orf175_uc001cxq.2_RNA|C1orf175_uc001cxo.2_Missense_Mutation_p.G190C|C1orf175_uc010ooc.1_Intron|C1orf175_uc001cxs.2_RNA|C1orf175_uc010ood.1_Intron|C1orf175_uc010oof.1_RNA|C1orf175_uc001cxr.1_RNA|C1orf175_uc010oog.1_Missense_Mutation_p.G190C|C1orf175_uc010ooh.1_RNA|C1orf175_uc009vzq.1_RNA|C1orf175_uc001cxt.1_RNA NM_001039464 NP_001034553 Q68CQ1 HEAT8_HUMAN hypothetical protein LOC374977 190 integral to membrane binding 0 TCTGGTTCTGGGCCACTGCAT 0.458 NA 87 50 2.93434e-44 4.87919e-44 0.01441 1 0 DAB1 1600 broad.mit.edu 37 1 57489264 57489264 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:57489264G>C uc001cys.1 - 13 1509 c.835C>G c.(835-837)CTT>GTT p.L279V DAB1_uc001cyt.1_Missense_Mutation_p.L277V|DAB1_uc001cyq.1_Missense_Mutation_p.L277V|DAB1_uc001cyr.1_Missense_Mutation_p.L193V|DAB1_uc009vzw.1_Missense_Mutation_p.L261V|DAB1_uc009vzx.1_Missense_Mutation_p.L279V NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 312 cell differentiation|nervous system development skin(2)|ovary(1) 3 CTCGCTGGAAGGGTCTGAGAT 0.532 NA 8 14 0 0 0.013537 0 0 FAM73A 374986 broad.mit.edu 37 1 78340618 78340618 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:78340618C>A uc001dhx.2 + 16 1800 c.1768C>A c.(1768-1770)CAG>AAG p.Q590K FAM73A_uc010ork.1_Missense_Mutation_p.Q591K|FAM73A_uc010orl.1_Missense_Mutation_p.Q553K NM_198549 NP_940951 Q8NAN2 FA73A_HUMAN hypothetical protein LOC374986 590 integral to membrane ovary(1) 1 Colorectal(170;0.226) AGACCTCATGCAGTTACTCAT 0.408 NA 43 50 4.10826e-27 6.14092e-27 0.01441 1 0 GBP4 115361 broad.mit.edu 37 1 89662923 89662923 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:89662923C>A uc001dnb.2 - 2 221 c.105G>T c.(103-105)CAG>CAT p.Q35H NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 35 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TCACTGTCAGCTGCTCTTCCT 0.443 NA 6 145 0.00116845 0.00123464 0.001168 1 0 GBP5 115362 broad.mit.edu 37 1 89735060 89735060 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:89735060C>A uc001dnc.2 - 3 716 c.179G>T c.(178-180)GGG>GTG p.G60V GBP5_uc001dnd.2_Missense_Mutation_p.G60V|GBP5_uc001dne.1_Missense_Mutation_p.G60V NM_052942 NP_443174 Q96PP8 GBP5_HUMAN guanylate-binding protein 5 60 plasma membrane GTP binding|GTPase activity ovary(1) 1 all cancers(265;0.00784)|Epithelial(280;0.0286) CTTGTTCTTCCCAGCCAGCTT 0.512 NA 62 80 1.48873e-21 2.12888e-21 0.01441 1 0 AMPD2 271 broad.mit.edu 37 1 110172892 110172892 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:110172892T>A uc009wfh.1 + 17 2725 c.2183T>A c.(2182-2184)ATC>AAC p.I728N AMPD2_uc009wfg.1_RNA|AMPD2_uc001dyb.1_Missense_Mutation_p.I647N|AMPD2_uc001dyc.1_Missense_Mutation_p.I728N|AMPD2_uc010ovr.1_Missense_Mutation_p.I653N|AMPD2_uc001dyd.1_Missense_Mutation_p.I609N|AMPD2_uc001dye.1_5'UTR NM_004037 NP_004028 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 (isoform L) 728 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding ovary(2)|breast(1) 3 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CTGGCCCAGATCGGCATCGCC 0.657 NA 8 327 0 0 0.006214 0 0 KCNA10 3744 broad.mit.edu 37 1 111060705 111060705 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:111060705C>T uc001dzt.1 - 1 1093 c.705G>A c.(703-705)CTG>CTA p.L235L NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 235 Helical; Name=Segment S1; (Potential). voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GCAGTGTCTCCAGGCAGAAGA 0.562 NA 58 93 0 0 0.01441 0 0 NGF 4803 broad.mit.edu 37 1 115829306 115829306 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:115829306C>A uc001efu.1 - 3 280 c.111G>T c.(109-111)TGG>TGT p.W37C NM_002506 NP_002497 P01138 NGF_HUMAN nerve growth factor, beta polypeptide precursor 37 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding upper_aerodigestive_tract(2) 2 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) GAAGTTTAGTCCAGTGGGCTT 0.592 NA 39 70 1.69901e-12 2.15644e-12 0.005524 1 0 SPAG17 200162 broad.mit.edu 37 1 118527328 118527328 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:118527328A>C uc001ehk.2 - 41 5815 c.5747T>G c.(5746-5748)TTG>TGG p.L1916W NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1916 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) TAACTGGTTCAATTCAGATTT 0.284 NA 18 89 0 0 0.010504 0 0 SPAG17 200162 broad.mit.edu 37 1 118609425 118609425 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:118609425C>T uc001ehk.2 - 18 2551 c.2483G>A c.(2482-2484)AGA>AAA p.R828K NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 828 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CAAACGTTGTCTATTCATTGG 0.333 NA 23 65 0 0 0.021523 0 0 FLG 2312 broad.mit.edu 37 1 152282747 152282747 + Missense_Mutation SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:152282747T>G uc001ezu.1 - 3 4651 c.4615A>C c.(4615-4617)AGT>CGT p.S1539R NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 1539 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGCTTGCACTTCTGGGTCCT 0.572 NA Ichthyosis 8 686 0 0 0.004482 0 0 INSRR 3645 broad.mit.edu 37 1 156810764 156810764 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:156810764G>T uc010pht.1 - 22 4049 c.3795C>A c.(3793-3795)TGC>TGA p.C1265* NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1265 Cytoplasmic (Potential). protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity lung(11)|ovary(5)|skin(2)|kidney(1)|central_nervous_system(1) 20 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GGGCCCCCCGGCATTCCGGGC 0.637 NA 4 25 2.17888e-05 2.41534e-05 0.006214 1 0 SPTA1 6708 broad.mit.edu 37 1 158596753 158596753 + Silent SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:158596753T>A uc001fst.1 - 41 5908 c.5709A>T c.(5707-5709)ATA>ATT p.I1903I NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1903 Spectrin 18. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TCAGAGCCTCTATCTTGGAAG 0.428 NA 25 99 0 0 0.004656 0 0 OR10J3 441911 broad.mit.edu 37 1 159283979 159283980 + Missense_Mutation DNP GG GG TT TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:159283979_159283980GG>TT uc010piu.1 - 1 470_471 c.470_471CC>AA c.(469-471)GCC>GAA p.A157E NM_001004467 NP_001004467 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 all_hematologic(112;0.0429) CTTGGACAATGGCCATGCCAAG 0.52 NA 33 35 0 0 0.004672 0 0 ASTN1 460 broad.mit.edu 37 1 176918355 176918355 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:176918355C>A uc001glc.2 - 12 2232 c.2020G>T c.(2020-2022)GAC>TAC p.D674Y ASTN1_uc001glb.1_Missense_Mutation_p.D674Y|ASTN1_uc001gld.1_Missense_Mutation_p.D674Y|ASTN1_uc009wwx.1_Missense_Mutation_p.D674Y NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 682 EGF-like 3. cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 AAGGTGGGGTCGTCCGGGAAG 0.542 NA OREG0014004 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 45 6.53348e-20 9.18971e-20 0.017118 1 0 CHRM3 1131 broad.mit.edu 37 1 240072434 240072434 + Nonsense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:240072434C>A uc001hyp.2 + 5 2462 c.1683C>A c.(1681-1683)TGC>TGA p.C561* NM_000740 NP_000731 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 561 Cytoplasmic (By similarity). cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) TGCTGCTGTGCCAGTGTGACA 0.517 NA 21 51 1.10923e-09 1.30731e-09 0.016522 1 0 OR2C3 81472 broad.mit.edu 37 1 247695135 247695135 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:247695135A>T uc009xgy.2 - 2 1041 c.679T>A c.(679-681)TTG>ATG p.L227M C1orf150_uc009xgw.2_Intron|C1orf150_uc001ida.3_Intron|C1orf150_uc001idb.3_Intron|C1orf150_uc009xgx.2_Intron|LOC148824_uc001idd.2_5'Flank NM_198074 NP_932340 Q8N628 OR2C3_HUMAN olfactory receptor, family 2, subfamily C, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) CTGATCTTCAACACGGCCCGG 0.537 NA 20 92 0 0 0.016522 0 0 ZMYND11 10771 broad.mit.edu 37 10 225956 225956 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:225956G>A uc010pzt.1 + 2 432 c.4G>A c.(4-6)GCA>ACA p.A2T ZMYND11_uc001ifk.2_Missense_Mutation_p.A2T|ZMYND11_uc010pzu.1_Missense_Mutation_p.A2T|ZMYND11_uc010pzv.1_Missense_Mutation_p.A2T|ZMYND11_uc010pzw.1_Missense_Mutation_p.A2T|ZMYND11_uc001ifm.2_Missense_Mutation_p.A2T|ZMYND11_uc010pzx.1_Missense_Mutation_p.A2T|ZMYND11_uc001ifn.2_Missense_Mutation_p.A2T|ZMYND11_uc009xhg.2_5'UTR NM_006624 NP_006615 Q15326 ZMY11_HUMAN zinc finger, MYND domain containing 11 isoform Error:Variant_position_missing_in_Q15326_after_alignment cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) ACAGGTCATGGCACGTTTAAC 0.363 NA 27 23 0 0 0.004656 0 0 GATA3 2625 broad.mit.edu 37 10 8115980 8115980 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:8115980G>T uc001ika.2 + 6 1883 c.1326G>T c.(1324-1326)ATG>ATT p.M442I GATA3_uc001ijz.2_Missense_Mutation_p.M443I NM_002051 NP_002042 P23771 GATA3_HUMAN GATA binding protein 3 isoform 2 442 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding breast(17)|ovary(3)|central_nervous_system(2) 22 TCACCGCCATGGGTTAGAGCC 0.607 NA F|N|S breast HDR syndrome (HYPOPARATHYROIDISM|SENSORINEURAL DEAFNESS|AND RENAL DISEASE) 13 139 2.32416e-17 3.14531e-17 0.014323 1 0 SLC39A12 221074 broad.mit.edu 37 10 18254567 18254567 + Silent SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:18254567T>C uc001ipo.2 + 4 972 c.699T>C c.(697-699)TTT>TTC p.F233F SLC39A12_uc001ipn.2_Silent_p.F233F|SLC39A12_uc001ipp.2_Silent_p.F233F|SLC39A12_uc010qck.1_Silent_p.F99F NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), 233 Cytoplasmic (Potential). zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 CAGACTACTTTACAGAATATA 0.428 NA 34 102 0 0 0.013726 0 0 THNSL1 79896 broad.mit.edu 37 10 25313947 25313947 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:25313947C>T uc001isi.3 + 3 2124 c.1795C>T c.(1795-1797)CAT>TAT p.H599Y ENKUR_uc001ish.1_Intron NM_024838 NP_079114 Q8IYQ7 THNS1_HUMAN threonine synthase-like 1 599 threonine biosynthetic process ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity pancreas(1) 1 L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114) AAGTCAGCATCATTTCCAGAT 0.388 NA 15 146 0 0 0.003163 0 0 ZNF239 8187 broad.mit.edu 37 10 44052539 44052539 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:44052539T>C uc001jaw.3 - 2 1642 c.989A>G c.(988-990)CAG>CGG p.Q330R ZNF239_uc001jax.3_Missense_Mutation_p.Q330R|ZNF239_uc009xmj.2_Missense_Mutation_p.Q330R|ZNF239_uc009xmk.2_Missense_Mutation_p.Q330R NM_005674 NP_005665 Q16600 ZN239_HUMAN zinc finger protein 239 330 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|RNA binding|zinc ion binding 0 GTTTGAGCGCTGACTGAAGCT 0.552 NA 34 67 0 0 0.015359 0 0 RBP3 5949 broad.mit.edu 37 10 48389941 48389941 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:48389941G>A uc001jez.2 - 1 1051 c.937C>T c.(937-939)CTG>TTG p.L313L NM_002900 NP_002891 P10745 RET3_HUMAN retinol-binding protein 3 precursor 313 4 X approximate tandem repeats.|1. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity large_intestine(1)|central_nervous_system(1) 2 Vitamin A(DB00162) GCTTTCTCCAGGGCCTGCTCG 0.692 NA 16 43 0 0 0.003163 0 0 UBE2D1 7321 broad.mit.edu 37 10 60124575 60124575 + Silent SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:60124575T>C uc001jke.1 + 5 466 c.243T>C c.(241-243)AAT>AAC p.N81N NM_003338 NP_003329 P51668 UB2D1_HUMAN ubiquitin-conjugating enzyme E2D 1 81 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|BMP signaling pathway|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination|transforming growth factor beta receptor signaling pathway cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity skin(2) 2 TAAACAGTAATGGAAGTATTT 0.318 NA 23 19 0 0 0.008361 0 0 SUPV3L1 6832 broad.mit.edu 37 10 70951419 70951419 + Silent SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:70951419A>T uc001jpe.1 + 6 805 c.750A>T c.(748-750)CCA>CCT p.P250P SUPV3L1_uc010qjd.1_Silent_p.P119P NM_003171 NP_003162 Q8IYB8 SUV3_HUMAN suppressor of var1, 3-like 1 precursor 250 Helicase ATP-binding. DNA duplex unwinding mitochondrial nucleoid|nucleus ATP binding|DNA binding|DNA helicase activity|RNA binding urinary_tract(1)|ovary(1) 2 AGGGTGTGCCATGTGACTTGG 0.398 NA 11 41 0 0 0.010729 0 0 MGEA5 10724 broad.mit.edu 37 10 103560073 103560073 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:103560073T>C uc001ktv.2 - 8 1564 c.1121A>G c.(1120-1122)TAT>TGT p.Y374C MGEA5_uc001ktu.2_5'Flank|MGEA5_uc010qqe.1_Intron|MGEA5_uc009xws.2_Intron|MGEA5_uc001ktw.2_Missense_Mutation_p.Y374C|MGEA5_uc009xwt.2_Missense_Mutation_p.Y137C NM_012215 NP_036347 O60502 NCOAT_HUMAN meningioma expressed antigen 5 (hyaluronidase) 374 glycoprotein catabolic process cytoplasm|nucleus histone acetyltransferase activity|hyalurononglucosaminidase activity ovary(2)|skin(1) 3 Colorectal(252;0.207) Epithelial(162;4.67e-09)|all cancers(201;2.54e-07) CTGTGGACTATAGAGTACATC 0.378 NA 58 153 0 0 0.01441 0 0 CALY 50632 broad.mit.edu 37 10 135140380 135140380 + Splice_Site SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr10:135140380A>G uc001lmo.2 - 4 518 c.360_splice c.e4+1 p.R120_splice uc001lmn.2_5'Flank NM_015722 NP_056537 Q9NYX4 CALY_HUMAN dopamine receptor D1 interacting protein clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis cytoplasmic vesicle membrane|integral to plasma membrane clathrin light chain binding|dopamine receptor binding 0 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06) Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831) TGGCCCCCTTACCCGCAGCAG 0.667 NA 4 12 0 0 0.009096 0 0 NLRP6 171389 broad.mit.edu 37 11 280839 280839 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:280839G>C uc010qvs.1 + 4 1105 c.1105G>C c.(1105-1107)GAG>CAG p.E369Q NLRP6_uc010qvt.1_Missense_Mutation_p.E369Q NM_138329 NP_612202 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 369 NACHT. cytoplasm ATP binding upper_aerodigestive_tract(1)|skin(1) 2 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGGCCGAGCGCGCCTA 0.622 NA 34 129 0 0 0.01441 0 0 RNH1 6050 broad.mit.edu 37 11 500626 500626 + Silent SNP G G T rs149360262 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:500626G>T uc001lpk.1 - 2 1538 c.130C>A c.(130-132)CGG>AGG p.R44R RNH1_uc001lpl.1_Silent_p.R44R|RNH1_uc001lpm.1_Silent_p.R44R|RNH1_uc001lpn.1_Silent_p.R44R|RNH1_uc001lpo.1_Silent_p.R44R|RNH1_uc009ybw.1_RNA|RNH1_uc001lpp.1_Silent_p.R44R|RNH1_uc001lpt.1_5'UTR|RNH1_uc001lpq.1_Silent_p.R44R|RNH1_uc001lpr.1_Silent_p.R44R|RNH1_uc001lps.1_Silent_p.R44R|RNH1_uc009ybx.1_Silent_p.R44R NM_203389 NP_976323 P13489 RINI_HUMAN ribonuclease/angiogenin inhibitor 44 LRR 1. mRNA catabolic process|regulation of angiogenesis angiogenin-PRI complex|cytoplasm protein binding|ribonuclease inhibitor activity 0 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703) TCCTTGCACCGTGCTTCCGTG 0.632 NA 11 66 3.27435e-08 3.77607e-08 0.020292 1 0 HRAS 3265 broad.mit.edu 37 11 533874 533874 + Missense_Mutation SNP T T A rs121913233 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:533874T>A uc001lpv.2 - 3 370 c.182A>T c.(181-183)CAG>CTG p.Q61L HRAS_uc010qvw.1_Missense_Mutation_p.Q61L|HRAS_uc010qvx.1_Missense_Mutation_p.Q61L|HRAS_uc010qvy.1_RNA NM_005343 NP_005334 P01112 RASH_HUMAN v-Ha-ras Harvey rat sarcoma viral oncogene 61 GTP. Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). Q->V: Strongly increased transformation of cultured cell lines.|Q->I: Moderately increased transformation of cultured cell lines. activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61R(112)|p.Q61L(93)|p.Q61K(39)|p.Q61H(20)|p.Q61P(3)|p.Q61Q(1)|p.Q61E(1) urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1) 749 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) GTACTCCTCCTGGCCGGCGGT 0.597 Q61L(KNS62_LUNG)|Q61L(NCIH1915_LUNG)|Q61L(KYSE30_OESOPHAGUS) 6 Mis infrequent sarcomas|rare other types rhadomyosarcoma|ganglioneuroblastoma|bladder Costello_syndrome HNSCC(11;0.0054) 75 117 0 0 0.01441 0 0 OR51E2 81285 broad.mit.edu 37 11 4703243 4703243 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:4703243C>A uc001lzk.2 - 2 943 c.699G>T c.(697-699)CGG>CGT p.R233R NM_030774 NP_110401 Q9H255 O51E2_HUMAN olfactory receptor, family 51, subfamily E, 233 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity lung(3)|ovary(2) 5 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2) AGGCCTTGGCCCGCTCTGACT 0.512 NA 21 75 2.89027e-11 3.51254e-11 0.014323 1 0 OR10A2 341276 broad.mit.edu 37 11 6891431 6891431 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:6891431G>T uc001meu.1 + 1 446 c.446G>T c.(445-447)TGG>TTG p.W149L NM_001004460 NP_001004460 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, 149 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CAGACCACATGGCTCTTCAGT 0.537 NA 70 143 1.34159e-35 2.12378e-35 0.01441 1 0 FANCF 2188 broad.mit.edu 37 11 22646877 22646877 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:22646877G>C uc001mql.1 - 1 511 c.480C>G c.(478-480)GAC>GAG p.D160E NM_022725 NP_073562 Q9NPI8 FANCF_HUMAN Fanconi anemia, complementation group F 160 DNA repair nucleoplasm protein binding skin(1) 1 TCATCAGAGAGTCCTCCTGGA 0.637 NA N|F AML|leukemia Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia OREG0020844 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 519 0 0 0.001984 0 0 OR4C12 283093 broad.mit.edu 37 11 50003265 50003265 + Missense_Mutation SNP C C T rs141386333 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:50003265C>T uc010ria.1 - 1 773 c.773G>A c.(772-774)CGC>CAC p.R258H NM_001005270 NP_001005270 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, 258 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 GGTCACTGAGCGCAGATACAC 0.433 NA 14 76 0 0 0.020292 0 0 OR4C15 81309 broad.mit.edu 37 11 55321872 55321872 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:55321872G>C uc010rig.1 + 1 90 c.90G>C c.(88-90)AAG>AAC p.K30N NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, Error:Variant_position_missing_in_Q8NGM1_after_alignment sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TTGATCTGAAGCAAATTTTCC 0.348 NA HNSCC(20;0.049) 65 113 0 0 0.01441 0 0 OR5D14 219436 broad.mit.edu 37 11 55563657 55563657 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:55563657A>T uc010rim.1 + 1 626 c.626A>T c.(625-627)GAG>GTG p.E209V NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 209 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 all_epithelial(135;0.196) ACCTTCAATGAGATGTGTACA 0.448 NA 78 149 0 0 0.01441 0 0 OR5T1 390155 broad.mit.edu 37 11 56043831 56043831 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:56043831G>T uc001nio.1 + 1 717 c.717G>T c.(715-717)AAG>AAT p.K239N NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 239 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) CCATTCTGAAGATGCAGTCTG 0.418 NA 88 192 7.0627e-44 1.16985e-43 0.01441 1 0 OR10Q1 219960 broad.mit.edu 37 11 57996185 57996185 + Missense_Mutation SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:57996185T>G uc010rkd.1 - 1 163 c.163A>C c.(163-165)ACA>CCA p.T55P NM_001004471 NP_001004471 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, 55 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Breast(21;0.0589) GTGCTGTGTGTGCACACCACC 0.522 NA 51 95 0 0 0.01441 0 0 MS4A12 54860 broad.mit.edu 37 11 60268654 60268654 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:60268654C>A uc001npr.2 + 3 470 c.413C>A c.(412-414)TCT>TAT p.S138Y NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN membrane-spanning 4-domains, subfamily A, member 138 Helical; (Potential). integral to membrane receptor activity 0 GGTGGCCTTTCTGTGAGTAGA 0.378 NA 34 123 4.65686e-17 6.24311e-17 0.017118 1 0 KDM2A 22992 broad.mit.edu 37 11 67021866 67021866 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:67021866C>G uc001ojw.2 + 20 4148 c.3284C>G c.(3283-3285)TCT>TGT p.S1095C KDM2A_uc001ojx.2_RNA|KDM2A_uc001ojy.2_Missense_Mutation_p.S789C|KDM2A_uc001ojz.1_Missense_Mutation_p.S553C|KDM2A_uc001oka.2_Missense_Mutation_p.S219C NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN F-box and leucine-rich repeat protein 11 1095 LRR 4. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding ovary(4)|lung(3)|breast(1)|skin(1) 9 ACTCGCTACTCTCTCACAGAG 0.547 NA 23 155 0 0 0.00632 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67058967 67058967 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:67058967G>C uc001okc.1 + 5 622 c.111G>C c.(109-111)GAG>GAC p.E37D ANKRD13D_uc001okd.1_Missense_Mutation_p.E124D|ANKRD13D_uc001oke.1_Missense_Mutation_p.E37D NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 37 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) TCTACGTTGAGATGAAGTGGG 0.627 NA 18 99 0 0 0.014323 0 0 CTTN 2017 broad.mit.edu 37 11 70263174 70263174 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:70263174G>T uc001opv.3 + 8 719 c.513G>T c.(511-513)AAG>AAT p.K171N CTTN_uc001opu.2_Missense_Mutation_p.K171N|CTTN_uc001opw.3_Missense_Mutation_p.K171N NM_005231 NP_005222 Q14247 SRC8_HUMAN cortactin isoform a 171 Cortactin 3. cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513) Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133) GAGTAGACAAGAGCGCGGTGG 0.602 NA 51 119 7.50695e-29 1.13798e-28 0.01441 1 0 ARAP1 116985 broad.mit.edu 37 11 72410139 72410139 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:72410139A>T uc001osu.2 - 18 2641 c.2452T>A c.(2452-2454)TTT>ATT p.F818I ARAP1_uc001osv.2_Missense_Mutation_p.F818I|ARAP1_uc001osr.2_Missense_Mutation_p.F578I|ARAP1_uc001oss.2_Missense_Mutation_p.F573I|ARAP1_uc009yth.2_Missense_Mutation_p.F512I|ARAP1_uc010rre.1_Missense_Mutation_p.F573I|ARAP1_uc001osw.1_Missense_Mutation_p.F106I NM_001040118 NP_001035207 Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH 818 PH 3. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding skin(1) 1 TACACCTCAAAGGTGTGCTCA 0.602 Ovarian(102;1198 1520 13195 17913 37529) NA 38 236 0 0 0.006999 0 0 ANKRD42 338699 broad.mit.edu 37 11 82938904 82938904 + Silent SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:82938904T>C uc001ozz.1 + 7 1241 c.819T>C c.(817-819)CCT>CCC p.P273P ANKRD42_uc010rsv.1_Silent_p.P301P|ANKRD42_uc001paa.2_Silent_p.P301P|ANKRD42_uc001pab.1_Silent_p.P300P NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 273 ANK 8. skin(1) 1 GATCAACTCCTATGCATAAAG 0.373 NA 45 74 0 0 0.01441 0 0 KDM4DL 390245 broad.mit.edu 37 11 94759362 94759362 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:94759362C>A uc010ruf.1 + 1 941 c.641C>A c.(640-642)CCA>CAA p.P214Q NM_001161630 NP_001155102 B2RXH2 KD4DL_HUMAN lysine (K)-specific demethylase 4D-like 214 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GTGGTGCCCCCAGAACATGGT 0.577 NA 51 68 1.21353e-23 1.7588e-23 0.01441 1 0 NPAT 4863 broad.mit.edu 37 11 108043482 108043482 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:108043482G>A uc001pjz.3 - 13 2331 c.2229C>T c.(2227-2229)ATC>ATT p.I743I NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Silent_p.I538I NM_002519 NP_002510 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 743 positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity ovary(2) 2 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|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) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) CATCACTAATGATAACTTTGA 0.383 NA 51 92 0 0 0.01441 0 0 ARHGEF12 23365 broad.mit.edu 37 11 120352136 120352136 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:120352136C>A uc001pxl.1 + 39 4412 c.4405C>A c.(4405-4407)CCA>ACA p.P1469T ARHGEF12_uc009zau.1_Missense_Mutation_p.P1366T NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Rho guanine nucleotide exchange factor (GEF) 12 1469 apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|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 G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(2)|breast(2)|skin(2)|ovary(1) 7 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GGCAATTTCACCATTCACCCC 0.537 NA T MLL AML 23 108 1.50538e-07 1.73139e-07 0.00632 1 0 OR10S1 219873 broad.mit.edu 37 11 123847563 123847563 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:123847563C>A uc001pzm.1 - 1 836 c.836G>T c.(835-837)AGT>ATT p.S279I NM_001004474 NP_001004474 Q8NGN2 O10S1_HUMAN olfactory receptor, family 10, subfamily S, 279 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) TCCTGCCTCACTGGAGCGAGG 0.587 NA 32 263 6.2361e-21 8.85857e-21 0.007835 1 0 FLI1 2313 broad.mit.edu 37 11 128680825 128680825 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:128680825C>G uc010sbu.1 + 9 1642 c.1301C>G c.(1300-1302)CCC>CGC p.P434R FLI1_uc010sbt.1_Missense_Mutation_p.P241R|FLI1_uc010sbv.1_Missense_Mutation_p.P401R|FLI1_uc009zci.2_Missense_Mutation_p.P368R NM_002017 NP_002008 Q01543 FLI1_HUMAN Friend leukemia virus integration 1 434 hemostasis|organ morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/FLI1(2266) bone(2210)|soft_tissue(48)|autonomic_ganglia(4)|central_nervous_system(4)|lung(3)|ovary(2)|pancreas(2) 2273 all_hematologic(175;0.0641) Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182) OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327) TACCCCAACCCCAACGTCCCC 0.577 NA T EWSR1 Ewing sarcoma 45 80 0 0 0.01441 0 0 OPCML 4978 broad.mit.edu 37 11 132307139 132307139 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:132307139C>G uc001qgs.2 - 4 691 c.641G>C c.(640-642)CGG>CCG p.R214P OPCML_uc001qgu.2_Missense_Mutation_p.R207P|OPCML_uc010sck.1_Missense_Mutation_p.R214P|OPCML_uc001qgt.2_Missense_Mutation_p.R213P|OPCML_uc010scl.1_Missense_Mutation_p.R173P NM_002545 NP_002536 Q14982 OPCM_HUMAN opioid binding protein/cell adhesion 214 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|integral to plasma membrane opioid receptor activity ovary(2)|skin(1) 3 all_hematologic(175;0.019) all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129) all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012) TTTTACTTTCCGCACATCGGG 0.542 NA 55 90 0 0 0.01441 0 0 IGSF9B 22997 broad.mit.edu 37 11 133789866 133789866 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr11:133789866T>C uc001qgx.3 - 18 3985 c.3754A>G c.(3754-3756)ACG>GCG p.T1252A NM_014987 NP_055802 Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 1252 Pro-rich.|Cytoplasmic (Potential). integral to membrane|plasma membrane 0 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GTGGACGGCGTAGACTTTCGA 0.697 NA 14 38 0 0 0.007413 0 0 KDM5A 5927 broad.mit.edu 37 12 498227 498227 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:498227C>G uc001qif.1 - 1 394 c.31G>C c.(31-33)GCG>CCG p.A11P KDM5A_uc001qie.1_Missense_Mutation_p.A11P|CCDC77_uc009zdk.2_5'Flank|CCDC77_uc010sdp.1_5'Flank|KDM5A_uc010sdn.1_Missense_Mutation_p.A11P|KDM5A_uc010sdo.1_Missense_Mutation_p.A11P NM_001042603 NP_001036068 P29375 KDM5A_HUMAN retinoblastoma binding protein 2 isoform 1 11 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(2)|ovary(1) 3 ACGAACTCCGCCGCGTAGCCC 0.687 NA T NUP98 AML 15 16 0 0 0.00499 0 0 CACNA1C 775 broad.mit.edu 37 12 2224599 2224599 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:2224599G>T uc009zdu.1 + 2 572 c.259G>T c.(259-261)GGG>TGG p.G87W CACNA1C_uc009zdv.1_Missense_Mutation_p.G87W|CACNA1C_uc001qkb.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkc.2_Missense_Mutation_p.G87W|CACNA1C_uc001qke.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkf.2_Missense_Mutation_p.G87W|CACNA1C_uc001qjz.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkd.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkg.2_Missense_Mutation_p.G87W|CACNA1C_uc009zdw.1_Missense_Mutation_p.G87W|CACNA1C_uc001qkh.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkl.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkn.2_Missense_Mutation_p.G87W|CACNA1C_uc001qko.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkp.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkr.2_Missense_Mutation_p.G87W|CACNA1C_uc001qku.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkq.2_Missense_Mutation_p.G87W|CACNA1C_uc001qks.2_Missense_Mutation_p.G87W|CACNA1C_uc001qkt.2_Missense_Mutation_p.G87W NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 87 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) GCAGCAATATGGGAAACCCAA 0.662 NA 7 11 0.000151284 0.000164306 0.016723 1 0 SLC2A3 6515 broad.mit.edu 37 12 8074110 8074110 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:8074110C>A uc001qtr.2 - 10 1652 c.1390G>T c.(1390-1392)GCC>TCC p.A464S NM_006931 NP_008862 P11169 GTR3_HUMAN solute carrier family 2 (facilitated glucose 464 Cytoplasmic (Potential). carbohydrate metabolic process|water-soluble vitamin metabolic process integral to membrane|plasma membrane D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity ovary(3)|pancreas(1) 4 Kidney(36;0.0866) CCTTCAAAGGCCCGTGTGATA 0.502 Colon(96;424 1461 14416 20933 23688) NA 74 203 3.20846e-33 5.04187e-33 0.01441 1 0 A2ML1 144568 broad.mit.edu 37 12 8994049 8994049 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:8994049C>A uc001quz.3 + 11 1263 c.1165C>A c.(1165-1167)CAG>AAG p.Q389K A2ML1_uc001qva.1_5'Flank NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 233 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 AACCTTCAACCAGACCCTGGT 0.478 NA 74 131 1.12115e-39 1.80818e-39 0.01441 1 0 KLRC3 3823 broad.mit.edu 37 12 10587093 10587093 + Missense_Mutation SNP G G A rs143264024 byFrequency TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:10587093G>A uc001qyh.2 - 3 330 c.323C>T c.(322-324)ACG>ATG p.T108M KLRC2_uc010she.1_Missense_Mutation_p.T108M|KLRC2_uc001qyk.2_Missense_Mutation_p.T108M NM_002261 NP_002252 Q07444 NKG2E_HUMAN killer cell lectin-like receptor subfamily C, 108 Extracellular (Potential). cellular defense response integral to membrane sugar binding|transmembrane receptor activity ovary(2)|skin(1) 3 ACCTTTCTGCGTTCTTGTATT 0.284 NA 8 55 0 0 0.006214 0 0 CDKN1B 1027 broad.mit.edu 37 12 12870888 12870888 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:12870888G>C uc001rat.2 + 1 587 c.115G>C c.(115-117)GAA>CAA p.E39Q NM_004064 NP_004055 P46527 CDN1B_HUMAN cyclin-dependent kinase inhibitor 1B 39 autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle cytosol|endosome|nucleoplasm cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity ovary(1)|lung(1) 2 Prostate(47;0.0322)|all_epithelial(100;0.159) BRCA - Breast invasive adenocarcinoma(232;0.0336) GGTGGACCACGAAGAGTTAAC 0.602 NA Multiple_Endocrine_Neoplasia_type_1|Multiple_Endocrine_Neoplasia_type_4 84 137 0 0 0.01441 0 0 FAR2 55711 broad.mit.edu 37 12 29423409 29423409 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:29423409C>A uc001ris.3 + 2 174 c.27C>A c.(25-27)GGC>GGA p.G9G FAR2_uc001rit.2_Silent_p.G9G|FAR2_uc009zjm.2_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 9 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 CTTTCTATGGCGGCAAGTCCA 0.458 NA 18 33 3.6726e-16 4.893e-16 0.021523 1 0 FAR2 55711 broad.mit.edu 37 12 29423423 29423423 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:29423423T>C uc001ris.3 + 2 188 c.41T>C c.(40-42)CTC>CCC p.L14P FAR2_uc001rit.2_Missense_Mutation_p.L14P|FAR2_uc009zjm.2_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 14 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor 0 AAGTCCATTCTCATCACGGGG 0.483 NA 20 31 0 0 0.007291 0 0 TMTC1 83857 broad.mit.edu 37 12 29670472 29670472 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:29670472A>C uc001rjb.2 - 14 2207 c.1733T>G c.(1732-1734)TTG>TGG p.L578W TMTC1_uc001riz.2_Missense_Mutation_p.L335W|TMTC1_uc001rja.2_Missense_Mutation_p.L422W|TMTC1_uc001riy.2_Missense_Mutation_p.L31W NM_175861 NP_787057 Q8IUR5 TMTC1_HUMAN transmembrane and tetratricopeptide repeat 686 TPR 7. integral to membrane binding 0 Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032) CAAAGGTGACAATATCTCAGC 0.463 NA 50 118 0 0 0.01441 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43846183 43846183 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:43846183C>A uc010skx.1 - 14 1973 c.1973G>T c.(1972-1974)TGT>TTT p.C658F NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 658 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) AGCAACCTGACAATAGAGTTT 0.353 NA 10 21 0.000151284 0.000164306 0.016723 1 0 HDAC7 51564 broad.mit.edu 37 12 48188624 48188624 + Silent SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:48188624C>G uc010slo.1 - 12 1572 c.1377G>C c.(1375-1377)GTG>GTC p.V459V HDAC7_uc009zku.2_5'Flank|HDAC7_uc001rqe.2_5'Flank|HDAC7_uc001rqj.3_Silent_p.V422V|HDAC7_uc001rqk.3_Silent_p.V442V NM_015401 NP_056216 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 isoform a 420 Transcription repression 2 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding lung(1)|breast(1) 2 GBM - Glioblastoma multiforme(48;0.137) GGCCATCGTCCACCACCTGGC 0.687 NA 38 148 0 0 0.019004 0 0 PFDN5 5204 broad.mit.edu 37 12 53691907 53691907 + Missense_Mutation SNP C C T rs146649111 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:53691907C>T uc001scl.2 + 5 478 c.361C>T c.(361-363)CTT>TTT p.L121F PFDN5_uc001scm.2_Missense_Mutation_p.L76F|PFDN5_uc001scn.2_RNA|PFDN5_uc001sco.2_RNA|C12orf10_uc010sof.1_5'Flank|C12orf10_uc001scp.3_5'Flank|C12orf10_uc009zmx.2_5'Flank|C12orf10_uc001scq.3_5'Flank NM_002624 NP_002615 Q99471 PFD5_HUMAN prefoldin subunit 5 isoform alpha 121 'de novo' posttranslational protein folding|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent nucleus|prefoldin complex transcription corepressor activity|unfolded protein binding ovary(1) 1 CCAACCAGCTCTTCAGGAGAA 0.458 NA 139 222 0 0 0.01441 0 0 HOXC9 3225 broad.mit.edu 37 12 54394171 54394171 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:54394171G>A uc001sep.2 + 2 297 c.199G>A c.(199-201)GCG>ACG p.A67T HOXC9_uc001seq.2_Missense_Mutation_p.A67T NM_006897 NP_008828 P31274 HXC9_HUMAN homeobox C9 67 multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|pancreas(1)|skin(1) 3 CACGTCGTGGGCGCCCGTGCC 0.677 NA 13 56 0 0 0.004007 0 0 HELB 92797 broad.mit.edu 37 12 66698906 66698906 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:66698906A>C uc001sti.2 + 2 611 c.583A>C c.(583-585)ATG>CTG p.M195L HELB_uc010ssz.1_RNA|HELB_uc009zqt.1_RNA NM_033647 NP_387467 Q8NG08 HELB_HUMAN helicase (DNA) B 195 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity central_nervous_system(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) AGACAATGAGATGAGTCTTCC 0.363 NA 43 52 0 0 0.01441 0 0 IFNG 3458 broad.mit.edu 37 12 68549249 68549249 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:68549249G>T uc001stw.1 - 4 511 c.385C>A c.(385-387)CAA>AAA p.Q129K NM_000619 NP_000610 P01579 IFNG_HUMAN interferon, gamma precursor 129 cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus extracellular space cytokine activity|interferon-gamma receptor binding 0 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000829) Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641) GCTTTGCGTTGGACATTCAAG 0.428 NA 23 61 0.000375601 0.000404856 0.016522 1 0 LGR5 8549 broad.mit.edu 37 12 71960644 71960644 + Nonsense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:71960644C>A uc001swl.2 + 11 1070 c.1022C>A c.(1021-1023)TCA>TAA p.S341* LGR5_uc001swm.2_Nonsense_Mutation_p.S317*|LGR5_uc001swn.1_RNA NM_003667 NP_003658 O75473 LGR5_HUMAN leucine-rich repeat-containing G protein-coupled 341 Extracellular (Potential).|LRR 12. integral to plasma membrane protein-hormone receptor activity lung(4)|skin(3)|ovary(1)|pancreas(1) 9 GCACAGATCTCATCTCTTCCT 0.398 NA 32 72 3.93418e-24 5.74069e-24 0.019004 1 0 TRHDE 29953 broad.mit.edu 37 12 73056896 73056896 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:73056896C>G uc001sxa.2 + 19 3026 c.2996C>G c.(2995-2997)ACT>AGT p.T999S NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 999 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GCTGTGGAAACTGTCGAAGCC 0.388 NA 4 31 0 0 0.014758 0 0 OAS3 4940 broad.mit.edu 37 12 113382446 113382446 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:113382446G>T uc001tug.2 + 3 713 c.626G>T c.(625-627)TGG>TTG p.W209L OAS3_uc001tuf.2_Missense_Mutation_p.W209L NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 209 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 GTGAAGCACTGGTACCACCAG 0.468 NA 19 29 3.62473e-10 4.30751e-10 0.012319 1 0 TMEM120B 144404 broad.mit.edu 37 12 122199586 122199586 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:122199586G>C uc001ubc.3 + 6 637 c.493G>C c.(493-495)GTG>CTG p.V165L TMEM120B_uc009zxh.2_Missense_Mutation_p.V165L NM_001080825 NP_001074294 A0PK00 T120B_HUMAN transmembrane protein 120B 165 Helical; (Potential). integral to membrane 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238) CTTCCTGCTGGTGTGGTATTA 0.587 NA 3 159 0 0 0.014758 0 0 WDR66 144406 broad.mit.edu 37 12 122369737 122369737 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:122369737G>T uc009zxk.2 + 4 975 c.833G>T c.(832-834)TGT>TTT p.C278F NM_144668 NP_653269 Q8TBY9 WDR66_HUMAN WD repeat domain 66 278 calcium ion binding ovary(1)|skin(1) 2 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) CTGTATGTTTGTGCTCACACT 0.463 Esophageal Squamous(85;849 1794 49757 52143) NA 97 120 4.31119e-35 6.79963e-35 0.01441 1 0 TMEM132D 121256 broad.mit.edu 37 12 130184930 130184930 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr12:130184930G>T uc009zyl.1 - 2 721 c.393C>A c.(391-393)GCC>GCA p.A131A NM_133448 NP_597705 Q14C87 T132D_HUMAN transmembrane protein 132D precursor 131 Extracellular (Potential). integral to membrane ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 14 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) GCAGGATGTGGGCTTTTAGTT 0.532 NA 29 64 2.90539e-05 3.21241e-05 0.008361 1 0 PSPC1 55269 broad.mit.edu 37 13 20346557 20346557 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr13:20346557C>T uc001uml.2 - 2 685 c.499G>A c.(499-501)GTT>ATT p.V167I PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA NM_001042414 NP_001035879 Q8WXF1 PSPC1_HUMAN paraspeckle protein 1 167 RRM 2.|Sufficient for paraspeckles localization. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding breast(1) 1 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TCATTGGAAACAACTGGAGAA 0.483 NA 69 90 0 0 0.01441 0 0 RPL21 6144 broad.mit.edu 37 13 27830439 27830439 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr13:27830439G>T uc001ura.2 + 5 404 c.361G>T c.(361-363)GAG>TAG p.E121* RPL21_uc001uqz.1_Nonsense_Mutation_p.E79* NM_000982 NP_000973 P46778 RL21_HUMAN ribosomal protein L21 121 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome 0 Lung SC(185;0.0156) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0287)|OV - Ovarian serous cystadenocarcinoma(117;0.118)|Epithelial(112;0.139)|GBM - Glioblastoma multiforme(144;0.21) AGAAGCCAAAGAGAAAGGTAC 0.388 NA 14 18 1.56452e-12 1.99163e-12 0.007413 1 0 POSTN 10631 broad.mit.edu 37 13 38138664 38138664 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr13:38138664T>A uc001uwo.3 - 22 2583 c.2465A>T c.(2464-2466)AAA>ATA p.K822I POSTN_uc010tet.1_Missense_Mutation_p.K323I|POSTN_uc001uwp.3_Missense_Mutation_p.K765I|POSTN_uc001uwr.2_Missense_Mutation_p.K767I|POSTN_uc001uwq.2_Missense_Mutation_p.K737I|POSTN_uc010teu.1_Missense_Mutation_p.K795I|POSTN_uc010tev.1_Missense_Mutation_p.K735I|POSTN_uc010tew.1_Missense_Mutation_p.K707I NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 822 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) ACCTTGAACTTTTTTGTTGGC 0.333 NA 17 27 0 0 0.007413 0 0 SUGT1 10910 broad.mit.edu 37 13 53241004 53241004 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr13:53241004C>T uc001vhc.2 + 11 898 c.673C>T c.(673-675)CTT>TTT p.L225F SUGT1_uc001vha.2_RNA|SUGT1_uc001vhb.2_Missense_Mutation_p.L193F|SUGT1_uc010thb.1_Missense_Mutation_p.L137F|SUGT1_uc001vhd.2_Missense_Mutation_p.L82F NM_001130912 NP_001124384 Q9Y2Z0 SUGT1_HUMAN suppressor of G2 allele of SKP1 isoform a 225 CS. mitosis kinetochore|ubiquitin ligase complex binding 0 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.25e-08) ACTGGAACTTCTTCATCCTAT 0.299 NA 19 32 0 0 0.004656 0 0 PCDH9 5101 broad.mit.edu 37 13 67802047 67802047 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr13:67802047C>A uc001vik.2 - 2 1218 c.526G>T c.(526-528)GTA>TTA p.V176L PCDH9_uc001vil.2_Missense_Mutation_p.V176L|PCDH9_uc010thl.1_Missense_Mutation_p.V176L|PCDH9_uc001vin.3_Missense_Mutation_p.V176L NM_203487 NP_982354 Q9HC56 PCDH9_HUMAN protocadherin 9 isoform 1 precursor 176 Extracellular (Potential).|Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1)|skin(1) 6 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TAATGCTGTACACCATTGAAG 0.428 NA 84 121 7.83748e-43 1.27843e-42 0.01441 1 0 SLAIN1 122060 broad.mit.edu 37 13 78327435 78327435 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr13:78327435G>T uc010thy.1 + 5 907 c.864G>T c.(862-864)CAG>CAT p.Q288H SLAIN1_uc001vkk.1_Missense_Mutation_p.Q211H|SLAIN1_uc001vkl.1_Missense_Mutation_p.Q167H|SLAIN1_uc010thz.1_Missense_Mutation_p.Q166H|SLAIN1_uc010aex.1_Missense_Mutation_p.Q53H|SLAIN1_uc010aey.1_Missense_Mutation_p.Q53H|SLAIN1_uc001vkm.2_Missense_Mutation_p.Q167H NM_144595 NP_653196 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 B 430 ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) GAAATAGTCAGAGTTTTGACT 0.363 NA 14 35 0.006122 0.00639012 0.006122 1 0 OR6S1 341799 broad.mit.edu 37 14 21109399 21109399 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:21109399C>A uc001vxv.1 - 1 452 c.452G>T c.(451-453)TGG>TTG p.W151L NM_001001968 NP_001001968 Q8NH40 OR6S1_HUMAN olfactory receptor, family 6, subfamily S, 151 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 all_cancers(95;0.00304) Epithelial(56;1.23e-06)|all cancers(55;1.01e-05) GBM - Glioblastoma multiforme(265;0.0135) TCCCCCCACCCAGCAGGCCAA 0.597 NA 16 34 5.03518e-11 6.10196e-11 0.007413 1 0 FBXO33 254170 broad.mit.edu 37 14 39870751 39870751 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:39870751T>A uc001wvk.2 - 3 1363 c.1025A>T c.(1024-1026)CAC>CTC p.H342L NM_203301 NP_976046 Q7Z6M2 FBX33_HUMAN F-box protein 33 342 0 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169) GBM - Glioblastoma multiforme(112;0.0425) AGAAACATTGTGAACCAGAAG 0.443 NA 82 103 0 0 0.01441 0 0 MDGA2 161357 broad.mit.edu 37 14 47426714 47426714 + Nonsense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:47426714A>T uc001wwj.3 - 9 1941 c.1745T>A c.(1744-1746)TTA>TAA p.L582* MDGA2_uc001wwi.3_Nonsense_Mutation_p.L353*|MDGA2_uc010ani.2_Nonsense_Mutation_p.L142* NM_001113498 NP_001106970 Q7Z553 MDGA2_HUMAN MAM domain containing 1 isoform 1 582 Ig-like 6. spinal cord motor neuron differentiation anchored to membrane|plasma membrane ovary(4)|large_intestine(1)|pancreas(1) 6 CGTCCGTAATAATTTATTGCC 0.443 NA 13 52 0 0 0.013537 0 0 RPS29 6235 broad.mit.edu 37 14 50053060 50053060 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:50053060C>T uc001wwm.2 - 1 35 c.5G>A c.(4-6)GGT>GAT p.G2D SDCCAG1_uc010anj.1_Intron|RPS29_uc001wwl.2_Missense_Mutation_p.G2D NM_001032 NP_001023 P62273 RS29_HUMAN ribosomal protein S29 isoform 1 2 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome|zinc ion binding 0 all_epithelial(31;0.00214)|Breast(41;0.0124) CTGCTGGTGACCCATCTTGCT 0.522 NA 61 65 0 0 0.01441 0 0 NID2 22795 broad.mit.edu 37 14 52534674 52534674 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:52534674G>A uc001wzo.2 - 2 670 c.436C>T c.(436-438)CGC>TGC p.R146C NID2_uc010tqs.1_Missense_Mutation_p.R146C|NID2_uc010tqt.1_Missense_Mutation_p.R146C|NID2_uc001wzp.2_Missense_Mutation_p.R146C NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 146 NIDO. basement membrane calcium ion binding|collagen binding pancreas(2)|breast(2)|ovary(1)|liver(1)|skin(1) 7 Breast(41;0.0639)|all_epithelial(31;0.123) CGCGCAGAGCGCGGGAAGCCA 0.706 NA 43 142 0 0 0.009718 0 0 WDHD1 11169 broad.mit.edu 37 14 55493428 55493428 + Splice_Site SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:55493428C>A uc001xbm.1 - 2 155 c.77_splice c.e2+1 p.S26_splice WDHD1_uc001xbn.1_Intron|SOCS4_uc001xbo.2_5'Flank|SOCS4_uc001xbp.2_5'Flank NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 cytoplasm|nucleoplasm DNA binding skin(1) 1 AAGAACCTTACCTCCCAGAAT 0.403 NA 18 168 3.03874e-20 4.28822e-20 0.015359 1 0 ZFP36L1 677 broad.mit.edu 37 14 69256985 69256985 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:69256985C>T uc001xkh.1 - 2 412 c.282G>A c.(280-282)GGG>GGA p.G94G ZFP36L1_uc001xki.1_Silent_p.G94G NM_004926 NP_004917 Q07352 TISB_HUMAN butyrate response factor 1 94 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GCCGCTCGCCCCCTTCCGAGA 0.672 NA OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 9 0 0 0.01441 0 0 ALKBH1 8846 broad.mit.edu 37 14 78174335 78174335 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:78174335C>A uc001xuc.1 - 1 22 c.13G>T c.(13-15)GCA>TCA p.A5S ALKBH1_uc001xud.1_RNA|C14orf156_uc001xue.3_5'Flank NM_006020 NP_006011 Q13686 ALKB1_HUMAN alkylated DNA repair protein alkB homolog 5 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(1)|skin(1) 2 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) ACGGCCGCTGCCATCTTCCCC 0.642 NA 30 16 6.18754e-15 8.09285e-15 0.01441 1 0 SERPINA13 388007 broad.mit.edu 37 14 95108209 95108209 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr14:95108209G>A uc001ydt.2 + 2 814 c.726G>A c.(724-726)GCG>GCA p.A242A NR_015340 RecName: Full=Serpin A13; Flags: Precursor; lung(1)|skin(1) 2 AAACCACAGCGGTTCTGGTGA 0.562 NA 46 129 0 0 0.01441 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063502 48063502 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:48063502G>A uc010bek.2 + 19 3102 c.2742G>A c.(2740-2742)TCG>TCA p.S914S SEMA6D_uc001zvw.2_Silent_p.S852S|SEMA6D_uc001zvy.2_Silent_p.S914S|SEMA6D_uc001zvz.2_Silent_p.S858S|SEMA6D_uc001zwa.2_3'UTR|SEMA6D_uc001zwb.2_Silent_p.S852S|SEMA6D_uc001zwc.2_Silent_p.S839S NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 914 Cytoplasmic (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CCATGGGATCGATGTCTGAGG 0.517 NA 39 174 0 0 0.021022 0 0 USP8 9101 broad.mit.edu 37 15 50769167 50769167 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:50769167A>G uc001zym.3 + 10 1471 c.971A>G c.(970-972)CAG>CGG p.Q324R USP8_uc001zyk.1_Missense_Mutation_p.R24G|USP8_uc001zyl.3_Missense_Mutation_p.Q324R|USP8_uc001zyn.3_Missense_Mutation_p.Q324R|USP8_uc010ufh.1_Missense_Mutation_p.Q247R|USP8_uc010bev.1_Intron NM_001128611 NP_001122083 P40818 UBP8_HUMAN ubiquitin specific peptidase 8 324 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(1)|central_nervous_system(1) 2 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CCACGACGCCAGAATGAAGAG 0.393 NA 38 91 0 0 0.00623 0 0 WDR72 256764 broad.mit.edu 37 15 54015097 54015097 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:54015097C>T uc002acj.2 - 3 204 c.162G>A c.(160-162)GCG>GCA p.A54A WDR72_uc010bfi.1_Silent_p.A54A NM_182758 NP_877435 Q3MJ13 WDR72_HUMAN WD repeat domain 72 54 WD 1. lung(1)|skin(1) 2 all cancers(107;0.0511) GGAGTTCTTTCGCTGAAATCT 0.353 NA 20 102 0 0 0.014323 0 0 RAB8B 51762 broad.mit.edu 37 15 63536975 63536975 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:63536975A>C uc002alz.2 + 2 241 c.145A>C c.(145-147)ACG>CCG p.T49P RAB8B_uc010uih.1_Missense_Mutation_p.T49P NM_016530 NP_057614 Q92930 RAB8B_HUMAN RAB8B, member RAS oncogene family 49 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity ovary(1)|kidney(1) 2 TAAAATTAGAACGATAGAACT 0.299 NA 4 49 0 0 0.001984 0 0 ZNF609 23060 broad.mit.edu 37 15 64966541 64966541 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:64966541C>T uc002ann.2 + 4 1488 c.1488C>T c.(1486-1488)GAC>GAT p.D496D NM_015042 NP_055857 O15014 ZN609_HUMAN zinc finger protein 609 496 C2H2-type. nucleus zinc ion binding upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TCCTAATTGACTGTCCCCACC 0.532 NA 63 87 0 0 0.01441 0 0 MESDC1 59274 broad.mit.edu 37 15 81295659 81295659 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:81295659G>T uc002bfz.2 + 1 2365 c.1047G>T c.(1045-1047)TCG>TCT p.S349S NM_022566 NP_072088 Q9H1K6 MESD1_HUMAN mesoderm development candidate 1 349 0 AGAGGTCTTCGCCCAGGACTT 0.557 NA 5 43 1.23904e-05 1.38424e-05 0.014758 1 0 AP3B2 8120 broad.mit.edu 37 15 83350261 83350261 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:83350261G>T uc010uoh.1 - 5 609 c.432C>A c.(430-432)CCC>CCA p.P144P AP3B2_uc010uoi.1_Silent_p.P144P|AP3B2_uc010uoj.1_Silent_p.P112P|AP3B2_uc010uog.1_5'Flank NM_004644 NP_004635 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 144 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity ovary(3)|breast(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.229) GCATCATGATGGGCACTATGA 0.562 NA 26 145 2.12542e-12 2.68177e-12 0.00632 1 0 FSD2 123722 broad.mit.edu 37 15 83451753 83451753 + Missense_Mutation SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:83451753T>G uc002bjd.2 - 4 927 c.760A>C c.(760-762)AAC>CAC p.N254H FSD2_uc010uol.1_Missense_Mutation_p.N254H|FSD2_uc010uom.1_Missense_Mutation_p.N254H NM_001007122 NP_001007123 A1L4K1 FSD2_HUMAN fibronectin type III and SPRY domain containing 254 Potential. central_nervous_system(1) 1 GACTCAAAGTTTTGTTCTTGT 0.348 NA 5 283 0 0 0.014758 0 0 ZNF592 9640 broad.mit.edu 37 15 85342390 85342390 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:85342390G>T uc002bld.2 + 9 3422 c.3086G>T c.(3085-3087)CGC>CTC p.R1029L ZNF592_uc010upb.1_RNA NM_014630 NP_055445 Q92610 ZN592_HUMAN zinc finger protein 592 1029 C2H2-type 10. cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(143;0.0587) AACAGCCTGCGCAAACACATC 0.527 NA 78 165 1.85467e-57 3.13249e-57 0.01441 1 0 ALDH1A3 220 broad.mit.edu 37 15 101447433 101447433 + Silent SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr15:101447433T>C uc002bwn.3 + 11 1445 c.1341T>C c.(1339-1341)AAT>AAC p.N447N ALDH1A3_uc010bpb.2_Silent_p.N340N|uc002bwo.1_Intron NM_000693 NP_000684 P47895 AL1A3_HUMAN aldehyde dehydrogenase 1A3 447 retinal metabolic process cytoplasm aldehyde dehydrogenase|protein homodimerization activity central_nervous_system(2)|lung(1)|pancreas(1) 4 Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103) NADH(DB00157)|Vitamin A(DB00162) TCACAAAAAATCTCGACAAAG 0.458 NA 52 107 0 0 0.01441 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1797083 1797083 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:1797083C>T uc002cmk.2 + 6 918 c.798C>T c.(796-798)CCC>CCT p.P266P MAPK8IP3_uc002cmj.1_RNA|MAPK8IP3_uc002cml.2_Silent_p.P266P|MAPK8IP3_uc010uvl.1_Silent_p.P267P NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN mitogen-activated protein kinase 8 interacting 266 vesicle-mediated transport Golgi membrane kinesin binding|MAP-kinase scaffold activity|protein kinase binding breast(2)|central_nervous_system(1) 3 CCGCCACACCCAGCACCACAG 0.657 NA 23 53 0 0 0.004656 0 0 CORO7 79585 broad.mit.edu 37 16 4408437 4408437 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:4408437C>A uc002cwh.3 - 24 2508 c.2388G>T c.(2386-2388)GAG>GAT p.E796D CORO7_uc002cwe.2_RNA|CORO7_uc002cwf.2_Missense_Mutation_p.E796D|CORO7_uc002cwg.3_Missense_Mutation_p.E576D|CORO7_uc010uxh.1_Missense_Mutation_p.E778D|CORO7_uc010uxi.1_Missense_Mutation_p.E711D|CORO7_uc002cwi.1_Missense_Mutation_p.E576D NM_024535 NP_078811 P57737 CORO7_HUMAN coronin 7 796 cytoplasmic membrane-bounded vesicle|cytosol|Golgi membrane|integral to membrane of membrane fraction|soluble fraction 0 ACCGCATCAGCTCCACTTCCC 0.697 NA 25 16 2.70662e-09 3.17251e-09 0.009535 1 0 PDILT 204474 broad.mit.edu 37 16 20410503 20410503 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:20410503C>A uc002dhc.1 - 2 343 c.120G>T c.(118-120)CTG>CTT p.L40L NM_174924 NP_777584 Q8N807 PDILT_HUMAN protein disulfide isomerase-like, testis 40 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity large_intestine(1) 1 TGCGTTCCTCCAGGATGTGCA 0.597 NA 75 57 7.83748e-43 1.27843e-42 0.01441 1 0 IL4R 3566 broad.mit.edu 37 16 27356218 27356218 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:27356218G>T uc002don.2 + 5 480 c.238G>T c.(238-240)GGA>TGA p.G80* IL4R_uc002dom.2_Nonsense_Mutation_p.G80*|IL4R_uc002dop.3_Nonsense_Mutation_p.G65*|IL4R_uc010bxy.2_Nonsense_Mutation_p.G80*|IL4R_uc002doo.2_5'UTR NM_000418 NP_000409 P24394 IL4RA_HUMAN interleukin 4 receptor alpha chain isoform a 80 Extracellular (Potential). immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity ovary(1)|skin(1) 2 TGAGAACAACGGAGGCGCGGG 0.627 NA 85 69 5.34484e-38 8.55573e-38 0.01441 1 0 LAT 27040 broad.mit.edu 37 16 29000895 29000895 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:29000895G>T uc002dsd.2 + 8 980 c.628G>T c.(628-630)GCA>TCA p.A210S uc010vct.1_Intron|LAT_uc010vdj.1_Missense_Mutation_p.A217S|LAT_uc002dsb.2_Missense_Mutation_p.A181S|LAT_uc002dsc.2_Missense_Mutation_p.A180S|LAT_uc010vdk.1_Missense_Mutation_p.A171S|LAT_uc010vdl.1_Missense_Mutation_p.A209S NM_014387 NP_055202 O43561 LAT_HUMAN linker for activation of T cells isoform a 210 Cytoplasmic (Potential). calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway immunological synapse|integral to membrane|intracellular|membrane raft SH3/SH2 adaptor activity 0 Hepatocellular(780;0.244) CGGGGAGAGCGCAGAAGCGTC 0.632 NA 71 80 1.14856e-27 1.72889e-27 0.01441 1 0 SRCAP 10847 broad.mit.edu 37 16 30723216 30723216 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:30723216G>T uc002dze.1 + 12 1938 c.1553G>T c.(1552-1554)AGT>ATT p.S518I SRCAP_uc002dzf.2_RNA|SRCAP_uc002dzg.1_Missense_Mutation_p.S375I|SRCAP_uc010bzz.1_Missense_Mutation_p.S88I NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 518 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) GAAGAAACAAGTGGAAGTTCA 0.483 NA 94 63 1.80868e-48 3.01915e-48 0.01441 1 0 SLC38A7 55238 broad.mit.edu 37 16 58712724 58712724 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:58712724G>A uc002eod.1 - 4 738 c.345C>T c.(343-345)TAC>TAT p.Y115Y SLC38A7_uc002eob.1_RNA|SLC38A7_uc002eoc.1_Silent_p.Y115Y|SLC38A7_uc010vil.1_Silent_p.Y26Y|SLC38A7_uc002eoe.1_Silent_p.Y115Y NM_018231 NP_060701 Q9NVC3 S38A7_HUMAN solute carrier family 38, member 7 115 amino acid transport|sodium ion transport integral to membrane ovary(1) 1 CCACCTCCTGGTAGGTCCTCT 0.552 NA 30 36 0 0 0.019004 0 0 FTSJD1 55783 broad.mit.edu 37 16 71319391 71319391 + Nonsense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:71319391C>A uc010cga.2 - 3 839 c.433G>T c.(433-435)GAA>TAA p.E145* FTSJD1_uc002ezy.3_Nonsense_Mutation_p.E145*|FTSJD1_uc002ezz.3_Nonsense_Mutation_p.E145* NM_001099642 NP_001093112 Q8IYT2 FTSJ1_HUMAN FtsJ methyltransferase domain containing 1 145 integral to membrane methyltransferase activity|nucleic acid binding skin(1) 1 CCTGGAGCTTCACAAAGGTGT 0.413 NA 70 42 2.23399e-28 3.37459e-28 0.01441 1 0 FANCA 2175 broad.mit.edu 37 16 89818580 89818580 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr16:89818580C>T uc002fou.1 - 31 3074 c.3032G>A c.(3031-3033)CGC>CAC p.R1011H FANCA_uc010vpn.1_Missense_Mutation_p.R1011H|FANCA_uc010vpo.1_Missense_Mutation_p.R97H NM_000135 NP_000126 O15360 FANCA_HUMAN Fanconi anemia, complementation group A isoform 1011 DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding ovary(2)|breast(2)|central_nervous_system(1)|skin(1) 6 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) ATTTCCTGTGCGGCCACCAAA 0.408 NA D|Mis|N|F|S AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 5 304 0 0 0.001168 0 0 SLC25A11 8402 broad.mit.edu 37 17 4842201 4842201 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:4842201A>T uc002fzo.1 - 3 431 c.318T>A c.(316-318)TTT>TTA p.F106L SLC25A11_uc002fzp.1_Missense_Mutation_p.F102L|RNF167_uc002fzq.2_5'Flank|RNF167_uc002fzr.2_5'Flank|RNF167_uc002fzs.2_5'Flank|RNF167_uc002fzt.2_5'Flank|RNF167_uc002fzu.2_5'Flank|RNF167_uc002fzv.2_5'Flank|RNF167_uc002fzw.1_5'Flank|RNF167_uc002fzx.2_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN solute carrier family 25 member 11 isoform 1 106 Solcar 1. gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity 0 TCAGGCGCTCAAACAGCACGG 0.612 Esophageal Squamous(144;1178 2388 18010 48797) NA 27 40 0 0 0.007291 0 0 USP6 9098 broad.mit.edu 37 17 5040419 5040419 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:5040419A>C uc002gau.1 + 19 2993 c.763A>C c.(763-765)AAG>CAG p.K255Q USP6_uc002gav.1_Missense_Mutation_p.K255Q|USP6_uc010ckz.1_5'UTR|uc002gbd.2_5'Flank NM_004505 NP_004496 P35125 UBP6_HUMAN ubiquitin specific protease 6 255 Rab-GAP TBC. protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process lysosome|plasma membrane|recycling endosome calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1) 5 CCATCAGGACAAGGAAGGTCT 0.592 NA T COL1A1|CDH11|ZNF9|OMD aneurysmal bone cysts 18 60 0 0 0.010504 0 0 DVL2 1856 broad.mit.edu 37 17 7134075 7134075 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:7134075G>A uc002gez.1 - 2 518 c.236C>T c.(235-237)CCC>CTC p.P79L DVL2_uc010vtr.1_Missense_Mutation_p.P79L|DVL2_uc010vts.1_5'Flank|DVL2_uc010clz.1_Missense_Mutation_p.P79L NM_004422 NP_004413 O14641 DVL2_HUMAN dishevelled 2 79 DIX. canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter cytosol|nucleus|plasma membrane frizzled binding|identical protein binding|signal transducer activity lung(1)|kidney(1) 2 GTTGAAGCAGGGGAGGCGGGC 0.587 NA 38 111 0 0 0.01441 0 0 TP53 7157 broad.mit.edu 37 17 7577099 7577099 + Missense_Mutation SNP C C A rs121912660 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:7577099C>A uc002gim.2 - 8 1033 c.839G>T c.(838-840)AGA>ATA p.R280I TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R280I|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R148I|TP53_uc010cng.1_Missense_Mutation_p.R148I|TP53_uc002gii.1_Missense_Mutation_p.R148I|TP53_uc010cnh.1_Missense_Mutation_p.R280I|TP53_uc010cni.1_Missense_Mutation_p.R280I|TP53_uc002gij.2_Missense_Mutation_p.R280I NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 280 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> T (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R280T(53)|p.R280K(41)|p.R280G(18)|p.R280S(13)|p.R280I(12)|p.R280*(8)|p.R280fs*65(7)|p.0?(7)|p.R280R(3)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.G279_R280delGR(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.C275_R283delCACPGRDRR(1)|p.L265_K305del41(1)|p.D281fs*24(1)|p.V272_K292del21(1)|p.C275fs*20(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCGCCGGTCTCTCCCAGGACA 0.542 Pancreas(47;798 1329 9957 10801) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumensyndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 24 38 1.10513e-12 1.41102e-12 0.014323 1 0 NTN1 9423 broad.mit.edu 37 17 9083206 9083206 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:9083206G>T uc002glw.3 + 4 1397 c.1290G>T c.(1288-1290)ACG>ACT p.T430T NM_004822 NP_004813 O95631 NET1_HUMAN netrin 1 precursor 430 Laminin EGF-like 3. apoptosis|axon guidance protein binding 0 ACGGCGTGACGGGTATCACCT 0.587 NA 21 29 1.10513e-12 1.41102e-12 0.014323 1 0 ALKBH5 54890 broad.mit.edu 37 17 18087755 18087755 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:18087755C>T uc010cpw.2 + 1 889 c.198C>T c.(196-198)CCC>CCT p.P66P uc002gsn.2_RNA NM_017758 NP_060228 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 66 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 all_neural(463;0.228) ACTCGGACCCCGAGCGCAGCG 0.483 Ovarian(166;154 1953 40235 46283 46309) NA 3 22 0 0 0.004672 0 0 LLGL1 3996 broad.mit.edu 37 17 18133340 18133340 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:18133340G>T uc002gsp.2 + 2 228 c.167G>T c.(166-168)GGG>GTG p.G56V NM_004140 NP_004131 Q15334 L2GL1_HUMAN lethal giant larvae homolog 1 56 WD 1. cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|skin(2)|ovary(1)|haematopoietic_and_lymphoid_tissue(1) 6 all_neural(463;0.228) ACCAGGTCTGGGGCTGTCAAG 0.602 NA 34 50 7.61001e-30 1.16181e-29 0.005524 1 0 AOC3 8639 broad.mit.edu 37 17 41004468 41004468 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:41004468G>T uc002ibv.2 + 1 1268 c.1108G>T c.(1108-1110)GCC>TCC p.A370S NM_003734 NP_003725 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 precursor 370 Extracellular (Potential). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity central_nervous_system(2)|ovary(1)|skin(1) 4 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) AGAGGCCTTGGCCATCTATGG 0.542 NSCLC(3;192 220 10664 11501 16477) NA 38 120 8.20599e-20 1.1467e-19 0.011902 1 0 DHX8 1659 broad.mit.edu 37 17 41570854 41570854 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:41570854G>A uc002idu.1 + 7 978 c.905G>A c.(904-906)CGG>CAG p.R302Q DHX8_uc010wif.1_Missense_Mutation_p.R211Q|DHX8_uc010wig.1_Missense_Mutation_p.R302Q NM_004941 NP_004932 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 302 S1 motif. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding ovary(2)|kidney(1)|pancreas(1) 4 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GAGCTCCGGCGGGAGGGTCGT 0.547 NSCLC(56;1548 1661 49258 49987) NA 5 100 0 0 0.001168 0 0 CDK5RAP3 80279 broad.mit.edu 37 17 46052626 46052626 + Nonsense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:46052626A>T uc002imr.2 + 6 520 c.436A>T c.(436-438)AAG>TAG p.K146* CDK5RAP3_uc010wlc.1_Nonsense_Mutation_p.K166*|CDK5RAP3_uc002imq.1_5'UTR|CDK5RAP3_uc002imu.2_5'UTR|CDK5RAP3_uc002ims.2_Nonsense_Mutation_p.K59*|CDK5RAP3_uc002imv.2_5'UTR|CDK5RAP3_uc002imw.2_5'UTR|CDK5RAP3_uc002imx.2_5'UTR NM_176096 NP_788276 Q96JB5 CK5P3_HUMAN CDK5 regulatory subunit associated protein 3 146 brain development|regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation neuronal Cdc2-like kinase binding 0 ATACAGCCGCAAGGAGGAGGA 0.587 NA 39 57 0 0 0.01441 0 0 HOXB3 3213 broad.mit.edu 37 17 46627838 46627838 + Missense_Mutation SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:46627838T>G uc002inn.2 - 2 1554 c.1154A>C c.(1153-1155)GAC>GCC p.D385A HOXB3_uc010wlm.1_Missense_Mutation_p.D312A|HOXB3_uc010dbf.2_Missense_Mutation_p.D385A|HOXB3_uc010dbg.2_Missense_Mutation_p.D385A|HOXB3_uc002ino.2_Missense_Mutation_p.D385A|HOXB3_uc010wlk.1_Missense_Mutation_p.D253A|HOXB3_uc010wll.1_Missense_Mutation_p.D312A NM_002146 NP_002137 P14651 HXB3_HUMAN homeobox B3 385 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CCCGTTGTAGTCCAGGTTCCC 0.697 NA OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 155 0 0 0.014758 0 0 ABCA6 23460 broad.mit.edu 37 17 67132263 67132263 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:67132263T>C uc002jhw.1 - 4 605 c.430A>G c.(430-432)AAC>GAC p.N144D ABCA6_uc002jhy.2_Missense_Mutation_p.N142D NM_080284 NP_525023 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A, member 6 144 transport integral to membrane ATP binding|ATPase activity upper_aerodigestive_tract(2)|large_intestine(2)|ovary(2)|skin(1) 7 Breast(10;5.65e-12) AGTGGACTGTTATATCCCTGG 0.323 NA 2 7 0 0 0.004672 0 0 ABCA5 23461 broad.mit.edu 37 17 67302912 67302912 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:67302912T>A uc002jif.2 - 5 1960 c.742A>T c.(742-744)ATA>TTA p.I248L ABCA5_uc002jig.2_Missense_Mutation_p.I248L|ABCA5_uc002jih.2_Missense_Mutation_p.I248L|ABCA5_uc010dfe.2_Missense_Mutation_p.I248L NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 248 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) AATTCTTTTATTTTTTTTTCT 0.234 NA 15 10 0 0 0.006122 0 0 UBE2O 63893 broad.mit.edu 37 17 74394977 74394977 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr17:74394977G>A uc002jrm.3 - 10 1789 c.1724C>T c.(1723-1725)CCT>CTT p.P575L UBE2O_uc002jrn.3_Missense_Mutation_p.P575L|UBE2O_uc002jrl.3_Missense_Mutation_p.P178L NM_022066 NP_071349 Q9C0C9 UBE2O_HUMAN ubiquitin-conjugating enzyme E2O 575 ATP binding|ubiquitin-protein ligase activity breast(2)|skin(2)|lung(1) 5 GTGGTGCACAGGGAAGAGGTC 0.612 NA 72 297 0 0 0.01441 0 0 LAMA1 284217 broad.mit.edu 37 18 6971968 6971968 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:6971968C>A uc002knm.2 - 48 6881 c.6787G>T c.(6787-6789)GTG>TTG p.V2263L LAMA1_uc010wzj.1_Missense_Mutation_p.V1739L NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2263 Laminin G-like 1. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTAACCTTCACAGCAGGAGAT 0.423 NA 58 95 4.09106e-26 6.05195e-26 0.01441 1 0 APCDD1 147495 broad.mit.edu 37 18 10468528 10468528 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:10468528A>C uc002kom.3 + 2 475 c.121A>C c.(121-123)AAA>CAA p.K41Q NM_153000 NP_694545 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 41 Extracellular (Potential). hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding 0 READ - Rectum adenocarcinoma(15;0.08) GTCCTTAGAGAAAAGTGCCTG 0.488 NA 14 255 0 0 0.003163 0 0 SEH1L 81929 broad.mit.edu 37 18 12955608 12955608 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:12955608G>T uc002krr.2 + 3 447 c.309G>T c.(307-309)TGG>TGT p.W103C SEH1L_uc002krq.2_Missense_Mutation_p.W103C NM_031216 NP_112493 Q96EE3 SEH1_HUMAN sec13-like protein isoform 2 103 attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex 0 AGAGCCACTGGGTGAGACATT 0.458 NA 19 47 3.99206e-14 5.18967e-14 0.007413 1 0 CDH2 1000 broad.mit.edu 37 18 25572694 25572694 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:25572694A>C uc002kwg.2 - 9 1728 c.1269T>G c.(1267-1269)AGT>AGG p.S423R CDH2_uc010xbn.1_Missense_Mutation_p.S392R NM_001792 NP_001783 P19022 CADH2_HUMAN cadherin 2, type 1 preproprotein 423 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding ovary(3)|lung(1) 4 GATCTCCGCCACTGATTCTGT 0.517 NA 12 57 0 0 0.013537 0 0 PIK3C3 5289 broad.mit.edu 37 18 39537617 39537617 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:39537617C>G uc002lap.2 + 2 209 c.151C>G c.(151-153)CAA>GAA p.Q51E PIK3C3_uc010xcl.1_Intron|PIK3C3_uc002lao.2_Missense_Mutation_p.Q51E NM_002647 NP_002638 Q8NEB9 PK3C3_HUMAN catalytic phosphatidylinositol 3-kinase 3 51 cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway midbody|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding lung(8)|ovary(1)|breast(1) 10 AGGACTATATCAAGAGACATG 0.418 NSCLC(37;552 1060 2683 16430 37914) NA TSP Lung(28;0.18) 49 70 0 0 0.01441 0 0 SETBP1 26040 broad.mit.edu 37 18 42618463 42618463 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:42618463C>A uc010dni.2 + 5 4310 c.4014C>A c.(4012-4014)CCC>CCA p.P1338P NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 1338 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGCCAAGTCCCCACTTAAAAG 0.458 NA Schinzel-Giedion_syndrome 35 59 1.07637e-12 1.38252e-12 0.021022 1 0 SLC14A1 6563 broad.mit.edu 37 18 43319551 43319551 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:43319551C>T uc010xcn.1 + 9 1189 c.870C>T c.(868-870)AGC>AGT p.S290S SLC14A1_uc010dnk.2_Silent_p.S346S|SLC14A1_uc002lbf.3_Silent_p.S290S|SLC14A1_uc002lbg.3_RNA|SLC14A1_uc010xco.1_Silent_p.S185S|SLC14A1_uc002lbh.3_Silent_p.S182S|SLC14A1_uc002lbi.3_Silent_p.S158S|SLC14A1_uc002lbj.3_Silent_p.S346S|SLC14A1_uc002lbk.3_Silent_p.S290S NM_001146036 NP_001139508 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), 290 Helical; (Potential). integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|pancreas(1) 2 GTTTCAACAGCTCTCTGGCCT 0.562 NA 39 87 0 0 0.00623 0 0 C18orf25 147339 broad.mit.edu 37 18 43796093 43796093 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:43796093C>A uc002lbw.2 + 2 626 c.247C>A c.(247-249)CGA>AGA p.R83R C18orf25_uc002lbx.2_Silent_p.R83R NM_145055 NP_659492 Q96B23 CR025_HUMAN ARKadia-like 1 isoform a 83 central_nervous_system(2) 2 TACAACTGGCCGAGTTTATGA 0.468 NA 52 97 3.00063e-23 4.33424e-23 0.01441 1 0 RNF152 220441 broad.mit.edu 37 18 59483460 59483460 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:59483460G>A uc002lih.1 - 2 649 c.237C>T c.(235-237)ATC>ATT p.I79I NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 79 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) GTGGAATGGCGATGACAGCCA 0.637 NA 14 62 0 0 0.00499 0 0 SERPINB7 8710 broad.mit.edu 37 18 61459667 61459667 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:61459667C>A uc002ljl.2 + 3 305 c.209C>A c.(208-210)TCT>TAT p.S70Y SERPINB7_uc002ljm.2_Missense_Mutation_p.S70Y|SERPINB7_uc010xet.1_Intron|SERPINB7_uc010dqg.2_Missense_Mutation_p.S70Y NM_001040147 NP_001035237 O75635 SPB7_HUMAN serine (or cysteine) proteinase inhibitor, clade 70 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity lung(2)|central_nervous_system(1) 3 Esophageal squamous(42;0.129) GGAAACTCTTCTAATAGTCAG 0.279 NA 18 42 2.4624e-09 2.89416e-09 0.008871 1 0 CDH7 1005 broad.mit.edu 37 18 63492010 63492010 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:63492010C>A uc002ljz.2 + 6 1249 c.924C>A c.(922-924)GGC>GGA p.G308G CDH7_uc002lka.2_Silent_p.G308G|CDH7_uc002lkb.2_Silent_p.G308G NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 308 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) ATGGTTTGGGCATTTTTAAGA 0.368 NA 8 53 4.3838e-07 5.00173e-07 0.016723 1 0 ZNF236 7776 broad.mit.edu 37 18 74583760 74583760 + Nonsense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:74583760C>T uc002lmi.2 + 5 838 c.640C>T c.(640-642)CGA>TGA p.R214* ZNF236_uc002lmj.2_RNA|ZNF236_uc002lmk.1_Nonsense_Mutation_p.R214* NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 214 C2H2-type 6. cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) CCAGTTAACGCGACACATTAG 0.323 NA 50 81 0 0 0.01441 0 0 LMNB2 84823 broad.mit.edu 37 19 2438179 2438179 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:2438179C>T uc002lvy.2 - 4 693 c.606G>A c.(604-606)CGG>CGA p.R202R LMNB2_uc002lwa.1_Silent_p.R222R NM_032737 NP_116126 Q03252 LMNB2_HUMAN lamin B2 202 Rod.|Coil 1B. nuclear inner membrane structural molecule activity large_intestine(1)|ovary(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACACACTCTTCCGGAAGTCCA 0.617 NA 26 118 0 0 0.00632 0 0 THOP1 7064 broad.mit.edu 37 19 2796159 2796159 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:2796159G>T uc002lwj.2 + 4 614 c.459G>T c.(457-459)GGG>GGT p.G153G THOP1_uc010xgz.1_Silent_p.G32G NM_003249 NP_003240 P52888 THOP1_HUMAN thimet oligopeptidase 1 153 proteolysis cytoplasm metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAGAAATGGGCTTCACCTCC 0.592 NA 40 17 1.57019e-19 2.18706e-19 0.007835 1 0 PIP5K1C 23396 broad.mit.edu 37 19 3641807 3641807 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:3641807C>A uc002lyj.1 - 15 1740 c.1683G>T c.(1681-1683)AGG>AGT p.R561S PIP5K1C_uc010xhq.1_Missense_Mutation_p.R561S|PIP5K1C_uc010xhr.1_Missense_Mutation_p.R561S NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 561 axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CCTCCTGCGGCCTGCAGGCAA 0.637 Esophageal Squamous(135;99 1744 12852 27186 39851) NA 39 12 6.1244e-12 7.6377e-12 0.007835 1 0 SEMA6B 10501 broad.mit.edu 37 19 4552480 4552480 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:4552480C>A uc010duc.1 - 9 981 c.943G>T c.(943-945)GGG>TGG p.G315W SEMA6B_uc010dud.2_Missense_Mutation_p.G315W|SEMA6B_uc010xih.1_Missense_Mutation_p.G315W NM_032108 NP_115484 Q9H3T3 SEM6B_HUMAN semaphorin 6B precursor 315 Extracellular (Potential).|Sema. cell differentiation|nervous system development integral to membrane receptor activity skin(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18) GGCCGGCCCCCGAGGCTGACC 0.627 NA 4 7 7.48243e-07 8.51449e-07 0.006214 1 0 OR2Z1 284383 broad.mit.edu 37 19 8841574 8841574 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:8841574C>T uc010xkg.1 + 1 184 c.184C>T c.(184-186)CTG>TTG p.L62L NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 CATGTACTTCCTGCTCAGCCA 0.557 NA 197 48 0 0 0.01441 0 0 MUC16 94025 broad.mit.edu 37 19 9067228 9067228 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:9067228C>A uc002mkp.2 - 3 20422 c.20218G>T c.(20218-20220)GGT>TGT p.G6740C NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 6742 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGAGGAGGACCTGTTCGAGTG 0.502 NA 335 107 3.31527e-164 5.73488e-164 0.01441 1 0 MUC16 94025 broad.mit.edu 37 19 9073450 9073450 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:9073450G>T uc002mkp.2 - 3 14200 c.13996C>A c.(13996-13998)CTT>ATT p.L4666I NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4668 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 GAGTTTGAAAGTCTACTGCTG 0.453 NA 18 241 3.32936e-07 3.81897e-07 0.006122 1 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:9204125G>A uc010xkj.1 + 1 205 c.205G>A c.(205-207)GTT>ATT p.V69I NM_001004456 NP_001004456 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, 69 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3) 3 CCTGTCCCTGGTTGATTTCTG 0.557 NA 4 134 0 0 0.00308 0 0 COL5A3 50509 broad.mit.edu 37 19 10102485 10102485 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:10102485C>A uc002mmq.1 - 23 2012 c.1926G>T c.(1924-1926)CAG>CAT p.Q642H NM_015719 NP_056534 P25940 CO5A3_HUMAN collagen, type V, alpha 3 preproprotein 642 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent ovary(7)|lung(1)|central_nervous_system(1)|skin(1) 10 Epithelial(33;7.11e-05) GGTTTCCCTGCTGTCCCGGAG 0.552 NA 141 44 1.99122e-69 3.40331e-69 0.01441 1 0 CACNA1A 773 broad.mit.edu 37 19 13410132 13410132 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:13410132G>T uc010dze.2 - 19 2554 c.2318C>A c.(2317-2319)TCC>TAC p.S773Y CACNA1A_uc010dzc.2_Missense_Mutation_p.S298Y|CACNA1A_uc002mwy.3_Missense_Mutation_p.S772Y|CACNA1A_uc010xne.1_Missense_Mutation_p.S301Y NM_001127221 NP_001120693 O00555 CAC1A_HUMAN calcium channel, alpha 1A subunit isoform 3 773 Cytoplasmic (Potential). cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding large_intestine(2) 2 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) CTCCCACACGGACTTGGCTGG 0.562 NA 110 71 2.19568e-55 3.6939e-55 0.01441 1 0 OR7A10 390892 broad.mit.edu 37 19 14952563 14952563 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:14952563G>A uc002mzx.1 - 1 127 c.127C>T c.(127-129)CTG>TTG p.L43L NM_001005190 NP_001005190 O76100 OR7AA_HUMAN olfactory receptor, family 7, subfamily A, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) ATGATGAGCAGGTTCCCGAGC 0.502 NA 34 22 0 0 0.017118 0 0 CYP4F8 11283 broad.mit.edu 37 19 15726466 15726466 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:15726466G>T uc002nbi.2 + 2 103 c.39G>T c.(37-39)CCG>CCT p.P13P CYP4F8_uc010xoi.1_Silent_p.P13P|CYP4F8_uc010xoj.1_5'UTR NM_007253 NP_009184 P98187 CP4F8_HUMAN cytochrome P450, family 4, subfamily F, 13 prostaglandin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding large_intestine(1) 1 GCCTCAGGCCGGTGGCAGCAT 0.682 NA 5 3 1.50039e-11 1.83905e-11 0.012319 1 0 ZNF14 7561 broad.mit.edu 37 19 19823805 19823805 + Silent SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:19823805T>C uc002nnk.1 - 4 439 c.285A>G c.(283-285)GAA>GAG p.E95E NM_021030 NP_066358 P17017 ZNF14_HUMAN zinc finger protein 14 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Renal(1328;0.0474) CAGTAAAAGTTTCCTTGTTGA 0.403 NA 4 95 0 0 0.014758 0 0 SLC7A10 56301 broad.mit.edu 37 19 33703293 33703293 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:33703293C>A uc002num.2 - 5 840 c.693G>T c.(691-693)GTG>GTT p.V231V SLC7A10_uc002nul.2_5'Flank|SLC7A10_uc010xrq.1_Silent_p.V204V NM_019849 NP_062823 Q9NS82 AAA1_HUMAN solute carrier family 7, member 10 231 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Esophageal squamous(110;0.137) CCAGGTGTCCCACGGAGGGCG 0.617 NA 15 50 3.52763e-06 3.95132e-06 0.00499 1 0 PEPD 5184 broad.mit.edu 37 19 33991872 33991872 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:33991872G>A uc002nur.3 - 4 500 c.365C>T c.(364-366)GCC>GTC p.A122V PEPD_uc010xrr.1_Missense_Mutation_p.A122V|PEPD_uc010xrs.1_Intron NM_000285 NP_000276 P12955 PEPD_HUMAN prolidase isoform 1 122 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity ovary(2) 2 Esophageal squamous(110;0.137) GTCGTCCACGGCATACTTCTC 0.557 NA 5 144 0 0 0.014758 0 0 USF2 7392 broad.mit.edu 37 19 35761990 35761990 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:35761990A>G uc002nyq.1 + 7 782 c.673A>G c.(673-675)ATT>GTT p.I225V USF2_uc010xss.1_Missense_Mutation_p.I225V|USF2_uc002nyr.1_Missense_Mutation_p.I158V|USF2_uc002nys.1_Missense_Mutation_p.I27V|USF2_uc002nyt.1_Missense_Mutation_p.I94V|USF2_uc002nyu.1_Missense_Mutation_p.I27V|USF2_uc002nyv.1_Missense_Mutation_p.I27V NM_003367 NP_003358 Q15853 USF2_HUMAN upstream stimulatory factor 2 isoform 1 225 lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose nucleus bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity 0 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGTAGAAAAATTGATGGAAC 0.483 NSCLC(103;173 2832 8890) NA 35 132 0 0 0.021022 0 0 CYP2B6 1555 broad.mit.edu 37 19 41510205 41510205 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:41510205T>A uc002opr.1 + 3 345 c.338T>A c.(337-339)GTG>GAG p.V113E CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.V73E NM_000767 NP_000758 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, 113 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding ovary(1)|skin(1) 2 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ACCCCAGGTGTGATCTTTGCC 0.552 NA 7 19 0 0 0.00308 0 0 CYP2A13 1553 broad.mit.edu 37 19 41600880 41600880 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:41600880C>T uc002opt.2 + 8 1187 c.1178C>T c.(1177-1179)CCT>CTT p.P393L NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 393 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) GAAGTGTTCCCTATGCTGGGC 0.572 NA 38 112 0 0 0.006999 0 0 ZNF614 80110 broad.mit.edu 37 19 52519539 52519539 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:52519539T>C uc002pyj.2 - 5 1714 c.1312A>G c.(1312-1314)ACA>GCA p.T438A ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Missense_Mutation_p.T141A NM_025040 NP_079316 Q8N883 ZN614_HUMAN zinc finger protein 614 438 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 5 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) GTGCGCTTTGTGGTGAAGCCT 0.408 NA 46 96 0 0 0.011902 0 0 ZNF665 79788 broad.mit.edu 37 19 53669109 53669109 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:53669109C>A uc010eqm.1 - 4 734 c.634G>T c.(634-636)GGC>TGC p.G212C NM_024733 NP_079009 Q9H7R5 ZN665_HUMAN zinc finger protein 665 147 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 GBM - Glioblastoma multiforme(134;0.0196) AAGGCTTTGCCACACTTATTA 0.393 NA 39 74 2.75727e-19 3.81571e-19 0.021022 1 0 KIR3DL1 3811 broad.mit.edu 37 19 55377868 55377868 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:55377868G>T uc002qhl.3 + 8 1212 c.1149G>T c.(1147-1149)GTG>GTT p.V383V KIR3DL2_uc010esh.2_Silent_p.V366V|KIR3DL2_uc002qho.3_Silent_p.V383V P43629 KI3L1_HUMAN SubName: Full=KIR3DS1; 383 Cytoplasmic (Potential). immune response|regulation of immune response integral to plasma membrane HLA-B specific inhibitory MHC class I receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|skin(1) 5 GBM - Glioblastoma multiforme(193;0.0192) ACAGAACAGTGAATAGGCAGG 0.537 NA 30 63 6.00712e-18 8.18113e-18 0.012213 1 0 TNNI3 7137 broad.mit.edu 37 19 55666160 55666160 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:55666160C>A uc002qjg.3 - 6 321 c.321G>T c.(319-321)GTG>GTT p.V107V TNNI3_uc010yft.1_Silent_p.V99V NM_000363 NP_000354 P19429 TNNI3_HUMAN troponin I, cardiac 107 cardiac muscle contraction|cellular calcium ion homeostasis|muscle filament sliding|negative regulation of ATPase activity|regulation of systemic arterial blood pressure by ischemic conditions|vasculogenesis|ventricular cardiac muscle tissue morphogenesis cytosol|troponin complex actin binding|calcium channel inhibitor activity|calcium-dependent protein binding|protein domain specific binding|protein kinase binding|troponin C binding|troponin T binding lung(1)|pancreas(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) TCTCTTCATCCACCTTGTCCA 0.517 NA 18 52 2.21704e-12 2.78917e-12 0.016522 1 0 ZNF550 162972 broad.mit.edu 37 19 58058519 58058519 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:58058519G>A uc002qpe.1 - 2 970 c.970C>T c.(970-972)CAC>TAC p.H324Y ZNF547_uc002qpm.3_Intron|ZNF549_uc010eud.1_Intron|ZNF550_uc002qpc.2_RNA|ZNF550_uc010eue.1_RNA|ZNF550_uc002qpd.2_RNA NM_001039654 NP_001034743 Q7Z398 ZN550_HUMAN zinc finger protein 550 365 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TCCCCAGTGTGAATCCGCTGG 0.522 NA 15 39 0 0 0.00499 0 0 TPO 7173 broad.mit.edu 37 2 1497723 1497723 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:1497723G>C uc002qww.2 + 11 2009 c.1918G>C c.(1918-1920)GCT>CCT p.A640P TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.A583P|TPO_uc002qwr.2_Missense_Mutation_p.A640P|TPO_uc002qwx.2_Missense_Mutation_p.A583P|TPO_uc010yio.1_Missense_Mutation_p.A467P|TPO_uc010yip.1_Missense_Mutation_p.A640P|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 640 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) GGGAGGCTTAGCTGAAAACTT 0.582 NA 14 114 0 0 0.003163 0 0 PXDN 7837 broad.mit.edu 37 2 1652348 1652348 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:1652348C>A uc002qxa.2 - 17 3268 c.3204G>T c.(3202-3204)GCG>GCT p.A1068A NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1068 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ACCTGAAGGCCGCGGTGGCGA 0.597 NA 7 79 0.000274275 0.000296383 0.004482 1 0 NCOA1 8648 broad.mit.edu 37 2 24920627 24920627 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:24920627G>T uc002rfk.2 + 9 1167 c.909G>T c.(907-909)CAG>CAT p.Q303H NCOA1_uc010eye.2_Missense_Mutation_p.Q303H|NCOA1_uc002rfi.2_Missense_Mutation_p.Q152H|NCOA1_uc002rfj.2_Missense_Mutation_p.Q303H|NCOA1_uc002rfl.2_Missense_Mutation_p.Q303H NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 303 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCAACCTCAGGGCAGAGAAC 0.378 NA T PAX3 alveolar rhadomyosarcoma 40 122 2.47872e-24 3.64169e-24 0.010771 1 0 GALNT14 79623 broad.mit.edu 37 2 31360856 31360856 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:31360856C>A uc002rnr.2 - 1 716 c.97G>T c.(97-99)GTG>TTG p.V33L GALNT14_uc002rns.2_Missense_Mutation_p.V33L|GALNT14_uc010ymr.1_5'UTR|GALNT14_uc010ezo.1_Missense_Mutation_p.V33L|GALNT14_uc010ezp.1_Intron NM_024572 NP_078848 Q96FL9 GLT14_HUMAN N-acetylgalactosaminyltransferase 14 33 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding upper_aerodigestive_tract(2)|skin(1) 3 Acute lymphoblastic leukemia(172;0.155) CCCGTCGGCACCTCCAACTTC 0.677 NA 14 66 6.72482e-11 8.10379e-11 0.003163 1 0 XDH 7498 broad.mit.edu 37 2 31588955 31588955 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:31588955C>T uc002rnv.1 - 22 2422 c.2343G>A c.(2341-2343)TTG>TTA p.L781L NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 781 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) CTGGAACCCCCAACATTTTTG 0.517 Colon(66;682 1445 30109 40147) NA 31 248 0 0 0.017118 0 0 DHX57 90957 broad.mit.edu 37 2 39050219 39050219 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:39050219G>T uc002rrf.2 - 17 3306 c.3207C>A c.(3205-3207)GGC>GGA p.G1069G DHX57_uc002rrd.3_Silent_p.G453G|DHX57_uc002rre.2_Silent_p.G502G NM_198963 NP_945314 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 1069 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding ovary(1)|lung(1)|skin(1) 3 all_hematologic(82;0.248) ACATTAGTTTGCCAATTCTCA 0.433 Melanoma(191;1090 2095 4375 23729 47341) NA 22 108 5.35356e-11 6.46951e-11 0.016522 1 0 SLC8A1 6546 broad.mit.edu 37 2 40656143 40656143 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:40656143G>T uc002rrx.2 - 1 1302 c.1278C>A c.(1276-1278)GCC>GCA p.A426A SLC8A1_uc002rry.2_Silent_p.A426A|SLC8A1_uc002rrz.2_Silent_p.A426A|SLC8A1_uc002rsa.2_Silent_p.A426A|SLC8A1_uc002rsd.3_Silent_p.A426A|SLC8A1_uc002rsb.1_Silent_p.A426A|SLC8A1_uc010fan.1_Silent_p.A426A|SLC8A1_uc002rsc.1_Silent_p.A426A NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 426 Calx-beta 1.|Cytoplasmic (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) TAATGGTAAGGGCCACAGTAC 0.438 NA 26 103 3.73988e-18 5.12591e-18 0.00632 1 0 NRXN1 9378 broad.mit.edu 37 2 50724853 50724853 + Splice_Site SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:50724853C>A uc010fbq.2 - 14 4095 c.2618_splice c.e14-1 p.G873_splice NRXN1_uc002rxb.3_Splice_Site_p.G505_splice|NRXN1_uc002rxe.3_Splice_Site_p.G833_splice|NRXN1_uc002rxc.1_Splice_Site NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GCCATTTGACCTAAAAGAGAA 0.373 NA 4 44 0.00116845 0.00123464 0.001168 1 0 NRXN1 9378 broad.mit.edu 37 2 50765556 50765556 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:50765556C>A uc010fbq.2 - 10 3575 c.2098G>T c.(2098-2100)GCT>TCT p.A700S NRXN1_uc002rxb.3_Missense_Mutation_p.A332S|NRXN1_uc002rxe.3_Missense_Mutation_p.A660S|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:Variant_position_missing_in_P58400_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGAACTTCAGCCATTTGCCGG 0.507 NA 87 487 7.63117e-38 1.21702e-37 0.01441 1 0 MEIS1 4211 broad.mit.edu 37 2 66796217 66796217 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:66796217G>A uc002sdu.2 + 12 1607 c.1150G>A c.(1150-1152)GAG>AAG p.E384K MEIS1_uc002sdt.2_3'UTR|MEIS1_uc002sdv.2_Intron|MEIS1_uc010yqh.1_Intron|MEIS1_uc010yqi.1_Missense_Mutation_p.E319K|MEIS1_uc002sdw.1_Missense_Mutation_p.E240K NM_002398 NP_002389 O00470 MEIS1_HUMAN Meis homeobox 1 384 Required for transcriptional activation (By similarity). sequence-specific DNA binding transcription factor activity 0 TATGGGCATGGAGGGGCAGTG 0.443 NA 38 266 0 0 0.006999 0 0 THNSL2 55258 broad.mit.edu 37 2 88484982 88484982 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:88484982G>T uc002ssz.3 + 8 1366 c.1213G>T c.(1213-1215)GAC>TAC p.D405Y THNSL2_uc002ssv.2_Intron|THNSL2_uc002ssw.3_Intron|THNSL2_uc002ssx.3_Intron|THNSL2_uc002sta.3_Intron|THNSL2_uc002ssy.3_Missense_Mutation_p.D405Y|THNSL2_uc010fhe.2_Intron NM_018271 NP_060741 Q86YJ6 THNS2_HUMAN threonine synthase-like 2 405 threonine biosynthetic process threonine synthase activity ovary(1) 1 CCAGCAGATAGACAGGCAGCA 0.592 NA 5 13 8.12818e-05 8.87275e-05 0.001984 1 0 Unknown 0 broad.mit.edu 37 2 95539132 95539132 + Splice_Site SNP A A G rs74376788 by1000genomes TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:95539132A>G uc002stv.1 - 9 c.1317_splice c.e9+1 TEKT4_uc002stw.1_Intron|TEKT4_uc010fhr.1_RNA Homo sapiens cDNA FLJ44118 fis, clone TESTI4047069. NA AGCAGAACTTACACAGTCAGA 0.567 NA 2 21 0 0 0.004672 0 0 DPP10 57628 broad.mit.edu 37 2 116447482 116447482 + Silent SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:116447482C>G uc002tla.1 + 7 1018 c.561C>G c.(559-561)GTC>GTG p.V187V DPP10_uc002tlb.1_Silent_p.V137V|DPP10_uc002tlc.1_Silent_p.V183V|DPP10_uc002tle.2_Silent_p.V191V|DPP10_uc002tlf.1_Silent_p.V180V NM_020868 NP_065919 Q8N608 DPP10_HUMAN dipeptidyl peptidase 10 isoform long 187 Extracellular (Potential). proteolysis integral to membrane|membrane fraction serine-type peptidase activity ovary(5)|large_intestine(2)|skin(2)|breast(1) 10 CCTGGGGTGTCCAAGGGCAGC 0.443 NA 3 81 0 0 0.009096 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125367481 125367481 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:125367481G>T uc002tno.2 + 12 2221 c.1857G>T c.(1855-1857)GTG>GTT p.V619V CNTNAP5_uc010flu.2_Silent_p.V620V NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 619 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) CTCTCCAGGTGTACTGCAATA 0.527 NA 3 65 0.004672 0.00488851 0.004672 1 0 POTEE 445582 broad.mit.edu 37 2 132021859 132021859 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:132021859A>T uc002tsn.2 + 15 2883 c.2831A>T c.(2830-2832)GAT>GTT p.D944V PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.D544V|POTEE_uc002tsl.2_Missense_Mutation_p.D526V|POTEE_uc010fmy.1_Missense_Mutation_p.D408V NM_001083538 NP_001077007 Q6S8J3 POTEE_HUMAN protein expressed in prostate, ovary, testis, 944 Actin-like. ATP binding 0 GAGCTGCCCGATGGCCAGGTC 0.602 NA 26 169 0 0 0.005524 0 0 NCKAP5 344148 broad.mit.edu 37 2 133721313 133721313 + Nonsense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:133721313C>A uc002ttp.2 - 8 933 c.559G>T c.(559-561)GAG>TAG p.E187* NCKAP5_uc002ttq.2_Nonsense_Mutation_p.E187*|NCKAP5_uc002tts.1_Nonsense_Mutation_p.E162* NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 187 Potential. protein binding 0 TTCAATCTCTCTAATAGCAAT 0.373 NA 31 53 2.29764e-31 3.55844e-31 0.017118 1 0 LY75 4065 broad.mit.edu 37 2 160663639 160663639 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:160663639C>A uc002ubc.3 - 34 4904 c.4835G>T c.(4834-4836)AGT>ATT p.S1612I LY75_uc002ubb.3_Missense_Mutation_p.S1612I|LY75_uc010fos.2_Intron NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1612 Extracellular (Potential).|C-type lectin 10. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) ATCTAACCAACTCCAAGACTG 0.353 NA 22 28 1.55795e-14 2.03149e-14 0.012319 1 0 GRB14 2888 broad.mit.edu 37 2 165364995 165364995 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:165364995C>T uc002ucl.2 - 8 1534 c.993G>A c.(991-993)ACG>ACA p.T331T GRB14_uc010zcv.1_Silent_p.T244T|GRB14_uc002ucm.2_RNA NM_004490 NP_004481 Q14449 GRB14_HUMAN growth factor receptor-bound protein 14 331 PH. blood coagulation|leukocyte migration cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane SH3/SH2 adaptor activity ovary(5)|upper_aerodigestive_tract(1)|lung(1) 7 TCACCCAGCACGTCCTACTCT 0.458 NA 8 42 0 0 0.00308 0 0 XIRP2 129446 broad.mit.edu 37 2 168107680 168107680 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:168107680G>T uc002udx.2 + 8 9796 c.9778G>T c.(9778-9780)GAG>TAG p.E3260* XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Nonsense_Mutation_p.E3085*|XIRP2_uc010fpq.2_Nonsense_Mutation_p.E3038*|XIRP2_uc010fpr.2_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 isoform 1 3085 actin cytoskeleton organization cell junction actin binding p.E3260G(1) skin(7)|ovary(6)|pancreas(1) 14 GGACGCTCAAGAGGAAATCAG 0.423 NA 23 68 9.95505e-16 1.31004e-15 0.014323 1 0 LRP2 4036 broad.mit.edu 37 2 170101331 170101331 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:170101331C>A uc002ues.2 - 22 3515 c.3302G>T c.(3301-3303)TGC>TTC p.C1101F LRP2_uc010zdf.1_Missense_Mutation_p.C964F NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 1101 LDL-receptor class A 9.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) GTGGGTGGGGCAGTTGTGCTC 0.532 NA 51 151 7.36392e-32 1.14877e-31 0.01441 1 0 TTN 7273 broad.mit.edu 37 2 179616220 179616220 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:179616220C>A uc002unb.2 - 46 11131 c.10907G>T c.(10906-10908)AGG>ATG p.R3636M 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 9485 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) GCCAGTAAACCTCAGGTCAAC 0.368 NA 24 97 1.96895e-08 2.28291e-08 0.016522 1 0 COL5A2 1290 broad.mit.edu 37 2 189914102 189914102 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:189914102T>A uc002uqk.2 - 44 3393 c.3118A>T c.(3118-3120)AAT>TAT p.N1040Y COL5A2_uc010frx.2_Missense_Mutation_p.N616Y NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1040 axon guidance|collagen fibril organization|eye morphogenesis|skin development collagen type V extracellular matrix structural constituent ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127) ACAGGACCATTGGAGCCTGGG 0.453 NA 11 6 0 0 0.016723 0 0 DNAH7 56171 broad.mit.edu 37 2 196834820 196834820 + Splice_Site SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:196834820T>A uc002utj.3 - 17 2160 c.2059_splice c.e17-1 p.L687_splice NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity skin(10)|ovary(2) 12 ACACCGTAACTAATAAAAACA 0.308 NA 22 24 0 0 0.004656 0 0 SATB2 23314 broad.mit.edu 37 2 200213530 200213530 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:200213530G>T uc002uuy.1 - 7 1884 c.1067C>A c.(1066-1068)TCT>TAT p.S356Y SATB2_uc010fsq.1_Missense_Mutation_p.S238Y|SATB2_uc002uuz.1_Missense_Mutation_p.S356Y|SATB2_uc002uva.1_Missense_Mutation_p.S356Y|SATB2_uc002uvb.1_Missense_Mutation_p.S99Y NM_015265 NP_056080 Q9UPW6 SATB2_HUMAN SATB homeobox 2 356 CUT 1. cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity ovary(1) 1 TTCCACGGAAGAGTTGGTTGG 0.547 Colon(30;262 767 11040 24421 36230) NA 28 105 3.99451e-17 5.38882e-17 0.009535 1 0 MAP2 4133 broad.mit.edu 37 2 210561775 210561775 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:210561775G>T uc002vde.1 + 9 4770 c.4522G>T c.(4522-4524)GCA>TCA p.A1508S MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.A1504S NM_002374 NP_002365 P11137 MAP2_HUMAN microtubule-associated protein 2 isoform 1 1508 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity ovary(9)|upper_aerodigestive_tract(2)|large_intestine(2)|pancreas(2)|central_nervous_system(1)|skin(1) 17 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) GAAAACCACAGGTGACTGTTC 0.373 Pancreas(27;423 979 28787 29963) NA 55 47 1.02487e-32 1.60463e-32 0.01441 1 0 SPAG16 79582 broad.mit.edu 37 2 214215278 214215278 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:214215278A>T uc002veq.2 + 7 763 c.671A>T c.(670-672)GAA>GTA p.E224V SPAG16_uc010fuz.1_Missense_Mutation_p.E75V|SPAG16_uc002ver.2_Missense_Mutation_p.E170V|SPAG16_uc010zjk.1_Missense_Mutation_p.E130V|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.E193V NM_024532 NP_078808 Q8N0X2 SPG16_HUMAN sperm associated antigen 16 isoform 1 224 Potential. cilium assembly cilium axoneme|flagellar axoneme ovary(1)|skin(1) 2 Renal(323;0.00461) UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599) GCATCTTATGAACCGACTATA 0.348 NA 16 20 0 0 0.004007 0 0 SP140L 93349 broad.mit.edu 37 2 231264881 231264881 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:231264881G>T uc010fxm.1 + 15 1328 c.1237G>T c.(1237-1239)GGG>TGG p.G413W SP140L_uc010fxo.1_Missense_Mutation_p.G185W NM_138402 NP_612411 Q9H930 LY10L_HUMAN SP140 nuclear body protein-like 413 PHD-type; degenerate. nucleus DNA binding|metal ion binding central_nervous_system(1) 1 CCGGGACGGAGGGGAGCTGTT 0.522 NA 60 80 1.99748e-12 2.52779e-12 0.01441 1 0 ALPP 250 broad.mit.edu 37 2 233244348 233244348 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:233244348G>A uc002vsq.2 + 4 600 c.435G>A c.(433-435)ACG>ACA p.T145T ALPP_uc002vsr.2_5'Flank NM_001632 NP_001623 P05187 PPB1_HUMAN placental alkaline phosphatase preproprotein 145 anchored to membrane|cell surface|integral to membrane|plasma membrane alkaline phosphatase activity|metal ion binding ovary(1) 1 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) AGTGCAACACGACACGCGGCA 0.622 NA 8 34 0 0 0.004482 0 0 CHRND 1144 broad.mit.edu 37 2 233392136 233392136 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:233392136C>A uc002vsw.2 + 3 228 c.224C>A c.(223-225)ACC>AAC p.T75N CHRND_uc010zmg.1_Intron|CHRND_uc010fyc.2_5'UTR|CHRND_uc010zmh.1_5'UTR NM_000751 NP_000742 Q07001 ACHD_HUMAN nicotinic acetylcholine receptor delta 75 Extracellular (Potential). muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1)|breast(1)|skin(1) 3 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754) ACCCTCACTACCAATGTGTGG 0.308 NA 4 144 0.00909568 0.00944806 0.009096 1 0 OTOS 150677 broad.mit.edu 37 2 241079494 241079494 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:241079494C>A uc002vyv.2 - 3 225 c.70G>T c.(70-72)GTG>TTG p.V24L NM_148961 NP_683764 Q8NHW6 OTOSP_HUMAN otospiralin precursor 24 extracellular region 0 all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16) Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) TCCTCCTGCACAGGCTTGGCC 0.567 NA 31 48 5.71845e-15 7.50219e-15 0.005524 1 0 KIF1A 547 broad.mit.edu 37 2 241700155 241700155 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:241700155G>T uc002vzy.2 - 24 2490 c.2344C>A c.(2344-2346)CGC>AGC p.R782S KIF1A_uc010fzk.2_Missense_Mutation_p.R791S|KIF1A_uc002vzz.1_Missense_Mutation_p.R791S NM_004321 NP_004312 Q12756 KIF1A_HUMAN axonal transport of synaptic vesicles 782 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity lung(1) 1 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) ACAATGGTGCGGGGGAAGGGC 0.657 NA 12 8 1.61879e-10 1.92906e-10 0.013537 1 0 NEU4 129807 broad.mit.edu 37 2 242757908 242757908 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:242757908C>A uc010fzr.2 + 4 1075 c.989C>A c.(988-990)CCT>CAT p.P330H NEU4_uc002wcl.2_RNA|NEU4_uc002wcm.2_Missense_Mutation_p.P330H|NEU4_uc002wcn.1_Missense_Mutation_p.P342H|NEU4_uc002wco.1_Missense_Mutation_p.P330H|NEU4_uc002wcp.1_Missense_Mutation_p.P342H NM_080741 NP_542779 Q8WWR8 NEUR4_HUMAN sialidase 4 330 Pro-rich. lysosomal lumen|organelle inner membrane exo-alpha-sialidase activity|protein binding 0 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825) GGCCAGGTGCCTGGTGGGCCC 0.716 NA 6 9 0.000442599 0.000475878 0.006214 1 0 C20orf103 24141 broad.mit.edu 37 20 9510440 9510440 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:9510440C>A uc002wni.1 + 6 1045 c.816C>A c.(814-816)GAC>GAA p.D272E C20orf103_uc010zrc.1_Missense_Mutation_p.D228E NM_012261 NP_036393 Q9UJQ1 CT103_HUMAN chromosome 20 open reading frame 103 precursor 272 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|lung(1)|breast(1) 3 COAD - Colon adenocarcinoma(9;0.194) TCCCTCGGGACAGATCCCAGT 0.527 NA 30 24 3.73148e-12 4.66707e-12 0.007291 1 0 DUSP15 128853 broad.mit.edu 37 20 30436639 30436639 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:30436639C>T uc002wwu.1 - 9 773 c.696G>A c.(694-696)CAG>CAA p.Q232Q Q9H1R2 DUS15_HUMAN RecName: Full=Dual specificity protein phosphatase 15; EC=3.1.3.48; EC=3.1.3.16; AltName: Full=Vaccinia virus VH1-related dual-specific protein phosphatase Y; AltName: Full=VH1-related member Y; 232 cytoplasm|plasma membrane protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity pancreas(1) 1 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CCTTGGGGTGCTGTGTGGGGC 0.602 NA 7 37 0 0 0.006214 0 0 EDEM2 55741 broad.mit.edu 37 20 33703271 33703271 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:33703271C>A uc002xbo.2 - 11 1802 c.1702G>T c.(1702-1704)GCA>TCA p.A568S EDEM2_uc010zus.1_Missense_Mutation_p.A347S|EDEM2_uc002xbq.2_Missense_Mutation_p.A531S|EDEM2_uc010zut.1_Missense_Mutation_p.A527S|EDEM2_uc002xbp.2_Missense_Mutation_p.A416S|EDEM2_uc002xbn.2_Missense_Mutation_p.A416S|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.A292S NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 568 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) CCCAGTAATGCCAACTTGGAG 0.433 Esophageal Squamous(51;906 1021 24535 36410 39145) NA 167 258 7.08505e-72 1.2158e-71 0.01441 1 0 EDEM2 55741 broad.mit.edu 37 20 33711807 33711807 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:33711807T>A uc002xbo.2 - 9 1100 c.1000A>T c.(1000-1002)AGG>TGG p.R334W EDEM2_uc010zuv.1_Missense_Mutation_p.R293W|EDEM2_uc010zus.1_Missense_Mutation_p.R113W|EDEM2_uc002xbq.2_Missense_Mutation_p.R297W|EDEM2_uc010zut.1_Missense_Mutation_p.R293W|EDEM2_uc002xbp.2_Missense_Mutation_p.R182W|EDEM2_uc002xbn.2_Missense_Mutation_p.R182W|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_Missense_Mutation_p.R58W NM_018217 NP_060687 Q9BV94 EDEM2_HUMAN ER degradation enhancer, mannosidase alpha-like 334 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding 0 BRCA - Breast invasive adenocarcinoma(18;0.00936) AGGAAGGTCCTCATGGCATTG 0.498 Esophageal Squamous(51;906 1021 24535 36410 39145) NA 47 66 0 0 0.01441 0 0 MMP9 4318 broad.mit.edu 37 20 44639923 44639923 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:44639923C>A uc002xqz.2 + 5 810 c.791C>A c.(790-792)ACC>AAC p.T264N NM_004994 NP_004985 P14780 MMP9_HUMAN matrix metalloproteinase 9 preproprotein 264 Fibronectin type-II 1. collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding ovary(1)|pancreas(1) 2 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) AACTACGACACCGACGACCGG 0.612 NA 72 108 2.14232e-31 3.32992e-31 0.01441 1 0 PPP1R3D 5509 broad.mit.edu 37 20 58514323 58514323 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:58514323G>A uc002ybb.2 - 1 1030 c.664C>T c.(664-666)CGG>TGG p.R222W C20orf177_uc002yba.2_Intron|C20orf177_uc010zzx.1_5'Flank|C20orf177_uc002ybc.2_5'Flank NM_006242 NP_006233 O95685 PPR3D_HUMAN protein phosphatase 1, regulatory subunit 3D 222 CBM21. glycogen metabolic process protein binding|protein serine/threonine phosphatase activity 0 all_lung(29;0.00391) BRCA - Breast invasive adenocarcinoma(7;5.12e-09) CCGCGCCACCGCGCCACCGCC 0.682 NA 6 59 0 0 0.008291 0 0 PRIC285 85441 broad.mit.edu 37 20 62192981 62192981 + Missense_Mutation SNP C C T rs143065747 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr20:62192981C>T uc002yfm.2 - 13 7701 c.6809G>A c.(6808-6810)CGG>CAG p.R2270Q PRIC285_uc002yfl.1_Missense_Mutation_p.R1701Q NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN PPAR-alpha interacting complex protein 285 2270 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding central_nervous_system(2) 2 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCTCCCCTCCCGGGGGCTCTT 0.657 NA 112 221 0 0 0.01441 0 0 DSCAM 1826 broad.mit.edu 37 21 41648050 41648050 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr21:41648050C>T uc002yyq.1 - 11 2782 c.2330G>A c.(2329-2331)AGC>AAC p.S777N DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 777 Extracellular (Potential).|Ig-like C2-type 8. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding ovary(6)|skin(4)|upper_aerodigestive_tract(1) 11 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) CATGGACTTGCTGACGTCTGC 0.468 Melanoma(134;970 1778 1785 21664 32388) NA 15 41 0 0 0.004007 0 0 UMODL1 89766 broad.mit.edu 37 21 43505485 43505485 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr21:43505485C>G uc002zaf.1 + 4 566 c.566C>G c.(565-567)CCC>CGC p.P189R UMODL1_uc002zad.1_Missense_Mutation_p.P117R|UMODL1_uc002zae.1_Missense_Mutation_p.P117R|UMODL1_uc002zag.1_Missense_Mutation_p.P189R|UMODL1_uc010gow.1_5'UTR|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_5'UTR NM_001004416 NP_001004416 Q5DID0 UROL1_HUMAN uromodulin-like 1 isoform 1 precursor 189 Extracellular (Potential). cytoplasm|extracellular region|integral to membrane|plasma membrane calcium ion binding|peptidase inhibitor activity ovary(2)|skin(1) 3 CAAGTGGACCCCAGGCTCCTG 0.582 Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435) NA 56 212 0 0 0.01441 0 0 CCT8L2 150160 broad.mit.edu 37 22 17072655 17072655 + Silent SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:17072655A>G uc002zlp.1 - 1 1046 c.786T>C c.(784-786)TCT>TCC p.S262S NM_014406 NP_055221 Q96SF2 TCPQM_HUMAN T-complex protein 1 262 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity ovary(1) 1 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CAGCAGGACTAGAAAGACGGG 0.507 NA 9 203 0 0 0.008291 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384144 21384144 + Silent SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:21384144G>C uc002zud.2 - 3 1547 c.1479C>G c.(1477-1479)GGC>GGG p.G493G SLC7A4_uc002zue.2_Silent_p.G493G NM_004173 NP_004164 O43246 CTR4_HUMAN solute carrier family 7 (cationic amino acid 493 Helical; (Potential). cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity ovary(1)|lung(1) 2 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CAAGCACGCAGCCTATGGTGA 0.592 NA 26 45 0 0 0.021523 0 0 IGLL1 3543 broad.mit.edu 37 22 23917154 23917154 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:23917154T>C uc002zxd.2 - 2 440 c.322A>G c.(322-324)AGT>GGT p.S108G IGLL1_uc002zxe.2_Intron NM_020070 NP_064455 P15814 IGLL1_HUMAN immunoglobulin lambda-like polypeptide 1 isoform 108 J region (By similarity to lambda light- chain). immune response extracellular region|membrane 0 AGCCACTTACTTAAAACGGTG 0.577 NA 4 87 0 0 0.014758 0 0 CRYBA4 1413 broad.mit.edu 37 22 27021578 27021578 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:27021578G>T uc003acz.3 + 4 327 c.292G>T c.(292-294)GCC>TCC p.A98S NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 98 Beta/gamma crystallin 'Greek key' 2. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 CCGGCCTGCGGCCTGTGCTGT 0.517 NA 39 206 2.22609e-26 3.30447e-26 0.01441 1 0 FAM83F 113828 broad.mit.edu 37 22 40417816 40417816 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:40417816C>A uc003ayk.1 + 4 1396 c.1302C>A c.(1300-1302)CCC>CCA p.P434P NM_138435 NP_612444 Q8NEG4 FA83F_HUMAN hypothetical protein LOC113828 434 breast(1) 1 AGGCCGCCCCCGCCAGGCGCT 0.667 NA 15 26 6.44725e-10 7.64053e-10 0.014323 1 0 PARVB 29780 broad.mit.edu 37 22 44553945 44553945 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:44553945G>A uc003ben.2 + 11 979 c.927G>A c.(925-927)CCG>CCA p.P309P PARVB_uc003bem.2_Silent_p.P342P|PARVB_uc010gzn.2_Silent_p.P234P|PARVB_uc003beo.2_Silent_p.P272P NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 309 CH 2. cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) ACCTGACTCCGGAAAGCTTCG 0.498 NA 13 39 0 0 0.020292 0 0 TTLL3 26140 broad.mit.edu 37 3 9854722 9854722 + Silent SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:9854722A>T uc003btg.2 + 3 360 c.144A>T c.(142-144)TCA>TCT p.S48S ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Silent_p.S48S|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_5'Flank|TTLL3_uc003bth.3_5'Flank NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 48 axoneme assembly|cilium assembly|protein polyglycylation cilium axoneme|cytoplasm|microtubule protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity large_intestine(2) 2 Medulloblastoma(99;0.227) TCCATCGCTCAGGCCCCACCC 0.582 NA 16 74 0 0 0.00499 0 0 GALNTL2 117248 broad.mit.edu 37 3 16254188 16254188 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:16254188G>A uc003car.3 + 6 1785 c.1310G>A c.(1309-1311)AGG>AAG p.R437K GALNTL2_uc003caq.3_Missense_Mutation_p.R170K NM_054110 NP_473451 Q8N3T1 GLTL2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 437 Lumenal (Potential). Golgi membrane|integral to membrane|transport vesicle polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(1) 1 CTGAGGAACAGGGTTCGCATT 0.542 NA 72 71 0 0 0.01441 0 0 KCNH8 131096 broad.mit.edu 37 3 19575003 19575003 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:19575003C>T uc003cbk.1 + 16 2931 c.2736C>T c.(2734-2736)AGC>AGT p.S912S KCNH8_uc010hex.1_Silent_p.S373S NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 912 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 CTTTGCACAGCACCTCTGTGT 0.522 NSCLC(124;1625 1765 8018 24930 42026) NA 46 46 0 0 0.01441 0 0 ZNF660 285349 broad.mit.edu 37 3 44636480 44636480 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:44636480G>C uc003cnl.1 + 3 1128 c.795G>C c.(793-795)CAG>CAC p.Q265H NM_173658 NP_775929 Q6AZW8 ZN660_HUMAN zinc finger protein 660 265 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TTGATCATCAGAGAGTTCACA 0.398 NA 14 56 0 0 0.003163 0 0 PRSS50 29122 broad.mit.edu 37 3 46757060 46757060 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:46757060G>A uc003cqe.1 - 3 494 c.435C>T c.(433-435)TCC>TCT p.S145S PRSS50_uc003cqf.1_Silent_p.S59S NM_013270 NP_037402 Q9UI38 TSP50_HUMAN testes-specific protease 50 precursor 145 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity 0 GCACCCACTGGGAGGCAATGA 0.647 Pancreas(41;915 1239 11561 17469) NA 15 58 0 0 0.007413 0 0 KIF9 64147 broad.mit.edu 37 3 47305841 47305841 + Splice_Site SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:47305841C>G uc010hjp.2 - 10 1521 c.917_splice c.e10-1 p.G306_splice KIF9_uc003cqx.2_Splice_Site_p.G306_splice|KIF9_uc003cqy.2_Splice_Site_p.G306_splice|KIF9_uc011bat.1_Splice_Site|KIF9_uc011bau.1_Splice_Site NM_001134878 NP_001128350 Q9HAQ2 KIF9_HUMAN kinesin family member 9 isoform 2 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity skin(1) 1 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) CAGTTTCCCCCTGCGGAAAGC 0.423 Colon(44;962 1147 15977 24541) NA 34 102 0 0 0.019004 0 0 USP19 10869 broad.mit.edu 37 3 49151718 49151718 + Splice_Site SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:49151718C>A uc003cwd.1 - 15 2145 c.1984_splice c.e15-1 p.V662_splice USP19_uc003cwa.2_Splice_Site_p.V470_splice|USP19_uc003cvz.3_Splice_Site_p.V765_splice|USP19_uc011bcg.1_Splice_Site_p.V753_splice|USP19_uc003cwb.2_Intron|USP19_uc003cwc.1_Splice_Site_p.V420_splice|USP19_uc011bch.1_Splice_Site_p.V763_splice NM_006677 NP_006668 O94966 UBP19_HUMAN ubiquitin thioesterase 19 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(4)|breast(2)|lung(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) TGATGGAGACCTGTGGATGTA 0.537 NA 28 85 7.41945e-09 8.62587e-09 0.005443 1 0 EPHA6 285220 broad.mit.edu 37 3 97167440 97167440 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:97167440C>A uc010how.1 + 7 1803 c.1760C>A c.(1759-1761)ACA>AAA p.T587K EPHA6_uc011bgo.1_RNA|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.3_5'UTR|EPHA6_uc003drr.3_5'UTR|EPHA6_uc003drt.2_5'UTR|EPHA6_uc010hox.1_RNA NM_001080448 NP_001073917 Q9UF33 EPHA6_HUMAN EPH receptor A6 isoform a 492 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity stomach(5)|lung(4)|central_nervous_system(3)|breast(1)|skin(1)|ovary(1)|kidney(1) 16 TACTCTTCCACAAGGTCCAAA 0.453 NA 31 48 1.07637e-12 1.38252e-12 0.021022 1 0 CCDC54 84692 broad.mit.edu 37 3 107097226 107097226 + Missense_Mutation SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:107097226T>G uc003dwi.1 + 1 1039 c.792T>G c.(790-792)AGT>AGG p.S264R NM_032600 NP_115989 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 264 0 TTTTCCTCAGTGCTACCAAGT 0.413 NA 64 91 0 0 0.01441 0 0 TRAT1 50852 broad.mit.edu 37 3 108557802 108557802 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:108557802G>T uc003dxi.1 + 3 284 c.140G>T c.(139-141)AGT>ATT p.S47I TRAT1_uc010hpx.1_Missense_Mutation_p.S10I NM_016388 NP_057472 Q6PIZ9 TRAT1_HUMAN T-cell receptor interacting molecule 47 Cytoplasmic (Potential). cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity skin(1) 1 AGCTACTCCAGTGACCACACC 0.333 NA 34 48 4.32679e-17 5.81879e-17 0.006999 1 0 GRAMD1C 54762 broad.mit.edu 37 3 113563429 113563429 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:113563429A>G uc003eaq.3 + 2 183 c.107A>G c.(106-108)GAG>GGG p.E36G GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA NM_017577 NP_060047 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 36 integral to membrane ovary(2)|skin(1) 3 ACTGTGGAAGAGAATAATGTG 0.373 NA 47 158 0 0 0.01441 0 0 PLA1A 51365 broad.mit.edu 37 3 119344001 119344001 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:119344001A>T uc003ecu.2 + 9 1082 c.1043A>T c.(1042-1044)AAG>ATG p.K348M PLA1A_uc003ecv.2_Missense_Mutation_p.K332M|PLA1A_uc003ecw.2_RNA|PLA1A_uc011bjc.1_Missense_Mutation_p.K175M NM_015900 NP_056984 Q53H76 PLA1A_HUMAN phospholipase A1 member A precursor 348 lipid catabolic process|phosphatidylserine metabolic process extracellular region phospholipase A1 activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1) 3 TTTCACTTGAAGGAACTGAGA 0.378 NA 16 84 0 0 0.01892 0 0 MCM2 4171 broad.mit.edu 37 3 127337904 127337904 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:127337904A>G uc003ejp.2 + 13 2105 c.2048A>G c.(2047-2049)CAC>CGC p.H683R MCM2_uc011bkm.1_Missense_Mutation_p.H553R|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.H636R NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 683 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 GTGGGCAGCCACGTCAGACAC 0.642 NA 14 15 0 0 0.010504 0 0 EPHB1 2047 broad.mit.edu 37 3 134873028 134873028 + Missense_Mutation SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:134873028T>G uc003eqt.2 + 6 1552 c.1332T>G c.(1330-1332)AGT>AGG p.S444R EPHB1_uc003equ.2_Missense_Mutation_p.S5R NM_004441 NP_004432 P54762 EPHB1_HUMAN ephrin receptor EphB1 precursor 444 Fibronectin type-III 2.|Extracellular (Potential). integral to plasma membrane ATP binding|ephrin receptor activity|protein binding lung(11)|ovary(6)|stomach(4)|breast(3)|central_nervous_system(2)|skin(2)|large_intestine(1)|pancreas(1) 30 ACCAAGTCAGTGCCACTATGA 0.542 NA 5 370 0 0 0.001168 0 0 CLDN18 51208 broad.mit.edu 37 3 137717810 137717810 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:137717810G>A uc003ero.1 + 1 153 c.100G>A c.(100-102)GAC>AAC p.D34N NM_001002026 NP_001002026 P56856 CLD18_HUMAN claudin 18 isoform 2 34 Extracellular (Potential). calcium-independent cell-cell adhesion|tight junction assembly integral to membrane|tight junction identical protein binding|structural molecule activity p.D34N(1) upper_aerodigestive_tract(1)|ovary(1) 2 GAGCACCCAAGACTTGTACAA 0.582 NA 34 178 0 0 0.017118 0 0 CLSTN2 64084 broad.mit.edu 37 3 140285094 140285094 + Nonstop_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:140285094A>G uc003etn.2 + 17 3057 c.2867A>G c.(2866-2868)TAG>TGG p.*956W NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN calsyntenin 2 precursor 956 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1) 7 CTCCCCTACTAGTGCCCAGGG 0.577 GBM(45;858 913 3709 36904 37282) NA HNSCC(16;0.037) 5 3 0 0 0.001168 0 0 PCOLCE2 26577 broad.mit.edu 37 3 142567166 142567166 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:142567166G>A uc003evd.2 - 3 537 c.341C>T c.(340-342)GCC>GTC p.A114V NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 114 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GGACACAAGGGCTCCAGGCCG 0.542 NA 28 73 0 0 0.008361 0 0 ZIC4 84107 broad.mit.edu 37 3 147108911 147108911 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:147108911A>T uc003ewd.1 - 4 1084 c.811T>A c.(811-813)TGC>AGC p.C271S ZIC4_uc003ewc.1_Missense_Mutation_p.C201S|ZIC4_uc011bno.1_Missense_Mutation_p.C321S NM_032153 NP_115529 Q8N9L1 ZIC4_HUMAN zinc finger protein of the cerebellum 4 271 C2H2-type 5. nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|central_nervous_system(1) 2 CACTTGTCGCAGCCCCGCACC 0.642 NA 24 31 0 0 0.00632 0 0 GMPS 8833 broad.mit.edu 37 3 155649598 155649598 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:155649598A>T uc003faq.2 + 13 1940 c.1605A>T c.(1603-1605)AAA>AAT p.K535N GMPS_uc011bom.1_Missense_Mutation_p.K436N NM_003875 NP_003866 P49915 GUAA_HUMAN guanine monophosphate synthetase 535 glutamine metabolic process|purine base biosynthetic process cytosol ATP binding|GMP synthase (glutamine-hydrolyzing) activity|GMP synthase activity ovary(2)|lung(1) 3 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTCCAGTAAAGATGAACCTG 0.403 Ovarian(153;896 1876 4149 15499 28134) NA T MLL AML 84 148 0 0 0.01441 0 0 GOLIM4 27333 broad.mit.edu 37 3 167761282 167761282 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:167761282G>A uc003ffe.2 - 5 746 c.402C>T c.(400-402)GAC>GAT p.D134D GOLIM4_uc011bpe.1_Silent_p.D134D|GOLIM4_uc011bpf.1_Silent_p.D134D|GOLIM4_uc011bpg.1_Silent_p.D134D NM_014498 NP_055313 O00461 GOLI4_HUMAN golgi integral membrane protein 4 134 Endosome targeting.|Potential.|Lumenal (Potential). transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(4)|skin(1) 5 CCTCTTCCAAGTCACTGTGCT 0.378 NA 34 168 0 0 0.005524 0 0 LAMP3 27074 broad.mit.edu 37 3 182870212 182870212 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:182870212T>A uc003flh.3 - 3 1063 c.839A>T c.(838-840)AAC>ATC p.N280I NM_014398 NP_055213 Q9UQV4 LAMP3_HUMAN lysosomal-associated membrane protein 3 280 Lumenal (Potential). cell proliferation integral to membrane|lysosomal membrane ovary(2)|central_nervous_system(1) 3 all_cancers(143;9.14e-14)|Ovarian(172;0.0355) all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21) CAACAGAAGGTTGGATTTTCG 0.468 NA 157 247 0 0 0.01441 0 0 ABCC5 10057 broad.mit.edu 37 3 183669353 183669353 + Silent SNP C C T rs139563504 by1000genomes TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:183669353C>T uc003fmg.2 - 20 2985 c.2820G>A c.(2818-2820)ACG>ACA p.T940T ABCC5_uc011bqt.1_Silent_p.T468T|ABCC5_uc010hxl.2_Silent_p.T940T NM_005688 NP_005679 O15440 MRP5_HUMAN ATP-binding cassette, sub-family C, member 5 940 ABC transmembrane type-1 2. integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity ovary(2)|large_intestine(1)|central_nervous_system(1) 4 all_cancers(143;1.85e-10)|Ovarian(172;0.0303) Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) AAGCTCGCAGCGTGCCCTGAG 0.592 NA 21 143 0 0 0.005443 0 0 LRCH3 84859 broad.mit.edu 37 3 197598238 197598238 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:197598238G>T uc011bul.1 + 19 2040 c.2035G>T c.(2035-2037)GGA>TGA p.G679* LRCH3_uc003fyj.1_Nonsense_Mutation_p.G679*|LRCH3_uc011bum.1_Nonsense_Mutation_p.G627*|LRCH3_uc011bun.1_Nonsense_Mutation_p.G525*|LRCH3_uc003fyk.2_Nonsense_Mutation_p.G274* NM_032773 NP_116162 Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) 679 CH. extracellular region ovary(1) 1 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) TTGTGATCTCGGAGCAGCTCT 0.423 NA 76 335 1.91123e-38 3.07085e-38 0.01441 1 0 RGS12 6002 broad.mit.edu 37 4 3432320 3432320 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:3432320G>T uc003ggw.2 + 17 4656 c.3752G>T c.(3751-3753)CGG>CTG p.R1251L RGS12_uc003ggv.2_Missense_Mutation_p.R1251L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.2_Missense_Mutation_p.R603L|RGS12_uc011bvs.1_3'UTR|RGS12_uc003gha.2_Missense_Mutation_p.R593L|RGS12_uc010icv.2_Missense_Mutation_p.R450L NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1251 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCAACGGCCGGGAGAGCGCC 0.667 NA 11 10 3.45872e-05 3.81437e-05 0.004007 1 0 CSN1S1 1446 broad.mit.edu 37 4 70804920 70804920 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:70804920G>A uc003hep.1 + 10 319 c.270G>A c.(268-270)TCG>TCA p.S90S CSN1S1_uc003heq.1_Silent_p.S89S|CSN1S1_uc003her.1_Silent_p.S90S NM_001890 NP_001881 P47710 CASA1_HUMAN casein alpha s1 isoform 1 90 extracellular region protein binding|transporter activity 0 TCAGTTCATCGAGTGAGGTAA 0.323 NA 9 54 0 0 0.006214 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169061 90169061 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:90169061G>T uc003hsm.1 - 2 2720 c.2201C>A c.(2200-2202)TCC>TAC p.S734Y NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN G protein-regulated inducer of neurite outgrowth 734 ovary(3) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGAGGAAATGGATCTCCGGGT 0.478 NA 58 228 3.93605e-18 5.3776e-18 0.01441 1 0 NHEDC1 150159 broad.mit.edu 37 4 103870474 103870474 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:103870474C>A uc003hww.2 - 4 444 c.322G>T c.(322-324)GGG>TGG p.G108W NHEDC1_uc003hwu.2_Missense_Mutation_p.G108W|NHEDC1_uc010ilm.2_5'UTR|NHEDC1_uc003hwv.2_Intron|NHEDC1_uc011cev.1_Intron NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Na+/H+ exchanger domain containing 1 isoform 1 108 Helical; (Potential). integral to membrane solute:hydrogen antiporter activity ovary(1)|skin(1) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;1.5e-08) ATTTTTCCCCCAATAATGGCA 0.353 NA 6 46 0.00198382 0.00208593 0.001984 1 0 EEF1A1P9 441032 broad.mit.edu 37 4 106406637 106406637 + Silent SNP T T G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:106406637T>G uc003hxt.1 + 1 775 c.645T>G c.(643-645)CCT>CCG p.P215P NR_003586 SubName: Full=Eukaryotic translation elongation factor 1 alpha; Flags: Fragment; 0 GTACTGTTCCTGTTGGCTGAG 0.488 NA 11 32 0 0 0.016723 0 0 PCDH18 54510 broad.mit.edu 37 4 138451033 138451033 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:138451033C>A uc003ihe.3 - 1 2597 c.2210G>T c.(2209-2211)AGG>ATG p.R737M PCDH18_uc003ihf.3_Missense_Mutation_p.R730M|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Missense_Mutation_p.R517M|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 737 Cytoplasmic (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) TTCGGCCACCCTGCAGTTATA 0.478 NA 33 53 1.99505e-19 2.76983e-19 0.012213 1 0 ARFIP1 27236 broad.mit.edu 37 4 153750861 153750861 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:153750861G>T uc003imz.2 + 2 352 c.76G>T c.(76-78)GAA>TAA p.E26* ARFIP1_uc003inb.2_Nonsense_Mutation_p.E26*|ARFIP1_uc003ina.2_Nonsense_Mutation_p.E26*|ARFIP1_uc003inc.2_Nonsense_Mutation_p.E26*|ARFIP1_uc011cij.1_Nonsense_Mutation_p.E26* NM_001025595 NP_001020766 P53367 ARFP1_HUMAN ADP-ribosylation factor interacting protein 1 26 intracellular protein transport|regulation of protein secretion cytosol|Golgi membrane ovary(1) 1 all_hematologic(180;0.093) TGACTCTCGTGAACATAGCTT 0.338 NA 20 57 8.34094e-07 9.4663e-07 0.008871 1 0 DCHS2 54798 broad.mit.edu 37 4 155161691 155161691 + Nonsense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:155161691G>A uc003inw.2 - 23 5992 c.5992C>T c.(5992-5994)CAG>TAG p.Q1998* NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1998 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCCTTTACCTGATAGAAATCT 0.403 NA 9 24 0 0 0.004482 0 0 DCHS2 54798 broad.mit.edu 37 4 155226292 155226292 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:155226292G>T uc003inw.2 - 16 3987 c.3987C>A c.(3985-3987)ACC>ACA p.T1329T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1329 Cadherin 11. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CAAGTATGGTGGTTGTCACTA 0.333 NA 4 13 3.59834e-05 3.95817e-05 0.001168 1 0 SH3RF1 57630 broad.mit.edu 37 4 170077704 170077704 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:170077704C>T uc003isa.1 - 3 855 c.520G>A c.(520-522)GGG>AGG p.G174R SH3RF1_uc010irc.1_5'UTR NM_020870 NP_065921 Q7Z6J0 SH3R1_HUMAN SH3 domain containing ring finger 1 174 SH3 1. Golgi apparatus|lamellipodium|perinuclear region of cytoplasm ligase activity|zinc ion binding breast(2)|lung(1) 3 Prostate(90;0.00267)|Renal(120;0.0183) GBM - Glioblastoma multiforme(119;0.0287) TTGACTTCCCCATGGTACCAA 0.423 NA 33 89 0 0 0.010818 0 0 SCRG1 11341 broad.mit.edu 37 4 174312327 174312327 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:174312327G>T uc003ite.2 - 2 652 c.239C>A c.(238-240)CCA>CAA p.P80Q SCRG1_uc003itf.2_RNA NM_007281 NP_009212 O75711 SCRG1_HUMAN stimulator of chondrogenesis 1 precursor 80 nervous system development extracellular space 0 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) TCCTTACTTTGGGCAGCAGAG 0.408 NA 33 83 1.42033e-22 2.03787e-22 0.019004 1 0 LRRC14B 389257 broad.mit.edu 37 5 194952 194952 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:194952G>A uc003jal.1 + 2 1057 c.1029G>A c.(1027-1029)CTG>CTA p.L343L NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 343 LRR 3. skin(1) 1 GACACAACCTGGTCAGCCTGT 0.622 NA 3 8 0 0 0.009096 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5235286 5235286 + Nonsense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:5235286C>A uc003jdl.2 + 13 2148 c.2010C>A c.(2008-2010)TAC>TAA p.Y670* ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.Y670*|ADAMTS16_uc010itk.1_RNA NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 670 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 GGAAGCCTTACACTCAAGTAG 0.473 NA 28 62 4.02929e-09 4.70998e-09 0.010818 1 0 PDZD2 23037 broad.mit.edu 37 5 32048790 32048790 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:32048790G>A uc003jhl.2 + 8 2053 c.1665G>A c.(1663-1665)CAG>CAA p.Q555Q PDZD2_uc003jhm.2_Silent_p.Q555Q|PDZD2_uc011cnx.1_Silent_p.Q381Q NM_178140 NP_835260 O15018 PDZD2_HUMAN PDZ domain containing 2 555 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1) 9 GTGCCTCACAGGTCCGACCAG 0.577 NA 52 61 0 0 0.01441 0 0 SKP2 6502 broad.mit.edu 37 5 36152994 36152994 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:36152994G>C uc003jkc.1 + 2 312 c.130G>C c.(130-132)GAG>CAG p.E44Q SKP2_uc011cou.1_5'UTR|SKP2_uc003jkd.2_Missense_Mutation_p.E44Q|LMBRD2_uc003jkb.1_5'Flank NM_005983 NP_005974 Q13309 SKP2_HUMAN S-phase kinase-associated protein 2 isoform 1 44 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle nucleoplasm|SCF ubiquitin ligase complex protein binding central_nervous_system(2)|ovary(1)|breast(1) 4 all_lung(31;5.63e-05) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCTGGAGAAAGAGGAGCCCGA 0.592 NA 47 52 0 0 0.01441 0 0 CDK7 1022 broad.mit.edu 37 5 68531237 68531237 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:68531237A>G uc003jvs.3 + 2 264 c.83A>G c.(82-84)AAG>AGG p.K28R CDK7_uc010ixd.1_Missense_Mutation_p.K28R|CDK7_uc003jvt.3_5'UTR|CDK7_uc003jvu.3_5'UTR NM_001799 NP_001790 P50613 CDK7_HUMAN cyclin-dependent kinase 7 28 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity lung(1) 1 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) ACCGTTTACAAGGCCAGAGAT 0.328 NA NER 12 88 0 0 0.013537 0 0 BDP1 55814 broad.mit.edu 37 5 70812006 70812006 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:70812006C>G uc003kbp.1 + 21 5031 c.4768C>G c.(4768-4770)CAA>GAA p.Q1590E BDP1_uc003kbo.2_Missense_Mutation_p.Q1590E NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1590 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding skin(2) 2 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) AGGACAGAGGCAAATAGTAGA 0.398 NA 3 13 0 0 0.001168 0 0 CMYA5 202333 broad.mit.edu 37 5 79029481 79029481 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:79029481G>T uc003kgc.2 + 2 4965 c.4893G>T c.(4891-4893)CCG>CCT p.P1631P NM_153610 NP_705838 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1631 perinuclear region of cytoplasm ovary(6)|pancreas(2)|lung(1) 9 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) CACACCAACCGTTGGAATTAC 0.423 NA 14 51 7.87624e-14 1.02082e-13 0.016522 1 0 SLCO6A1 133482 broad.mit.edu 37 5 101735314 101735314 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:101735314A>G uc003knn.2 - 10 1931 c.1759T>C c.(1759-1761)TCT>CCT p.S587P SLCO6A1_uc003kno.2_Missense_Mutation_p.S334P|SLCO6A1_uc003knp.2_Missense_Mutation_p.S587P|SLCO6A1_uc003knq.2_Missense_Mutation_p.S525P NM_173488 NP_775759 Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, 587 Helical; Name=10; (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|skin(3)|central_nervous_system(1) 7 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) ATAAGTGTAGAAAAGATAAAA 0.328 NA 7 31 0 0 0.001984 0 0 BRD8 10902 broad.mit.edu 37 5 137500094 137500094 + Silent SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:137500094A>G uc003lcf.1 - 13 1795 c.1740T>C c.(1738-1740)CCT>CCC p.P580P BRD8_uc003lcc.1_RNA|BRD8_uc011cyl.1_Silent_p.P359P|BRD8_uc003lcg.2_Silent_p.P653P|BRD8_uc003lci.2_Silent_p.P583P|BRD8_uc003lch.2_Silent_p.P474P|BRD8_uc011cym.1_Silent_p.P564P|BRD8_uc010jer.1_Silent_p.P549P|BRD8_uc011cyn.1_Silent_p.P539P NM_139199 NP_631938 Q9H0E9 BRD8_HUMAN bromodomain containing 8 isoform 2 580 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) ACATGCTTTCAGGGGATGCCT 0.398 NA 3 135 0 0 0.004672 0 0 PCDHGB5 56101 broad.mit.edu 37 5 140779851 140779851 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:140779851C>T uc003lkf.1 + 1 2157 c.2157C>T c.(2155-2157)GCC>GCT p.A719A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.A719A|PCDHGA9_uc011dax.1_5'Flank|PCDHGA9_uc003lkh.1_5'Flank NM_018925 NP_061748 Q9Y5G0 PCDGH_HUMAN protocadherin gamma subfamily B, 5 isoform 1 719 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCTGCCGCCTGGAGCTGCT 0.577 NA 149 109 0 0 0.01441 0 0 ADAM19 8728 broad.mit.edu 37 5 156920037 156920037 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:156920037C>A uc003lwz.2 - 16 1916 c.1852G>T c.(1852-1854)GGT>TGT p.G618C ADAM19_uc003lww.1_Missense_Mutation_p.G351C|ADAM19_uc003lwy.2_Missense_Mutation_p.G217C|ADAM19_uc011ddr.1_Missense_Mutation_p.G549C NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 618 Extracellular (Potential).|Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGCATGTCACCCTCCTCCTCA 0.607 NA 39 67 2.95478e-19 4.07588e-19 0.00874 1 0 ODZ2 57451 broad.mit.edu 37 5 167545349 167545349 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr5:167545349C>T uc010jjd.2 + 10 1866 c.1866C>T c.(1864-1866)TGC>TGT p.C622C ODZ2_uc003lzq.2_Silent_p.C501C|ODZ2_uc003lzr.3_Silent_p.C390C|ODZ2_uc003lzt.3_5'UTR|uc003lzs.1_Intron NM_001122679 NP_001116151 odz, odd Oz/ten-m homolog 2 ovary(6)|central_nervous_system(4) 10 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) AAGGGACGTGCCAGTGCTACA 0.577 NA 12 178 0 0 0.004007 0 0 SLC17A4 10050 broad.mit.edu 37 6 25776840 25776840 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:25776840C>T uc003nfe.2 + 9 1124 c.1005C>T c.(1003-1005)GCC>GCT p.A335A SLC17A4_uc011djx.1_Silent_p.A105A|SLC17A4_uc003nff.1_Silent_p.A96A|SLC17A4_uc003nfg.2_Silent_p.A272A|SLC17A4_uc010jqa.2_Intron NM_005495 NP_005486 Q9Y2C5 S17A4_HUMAN solute carrier family 17 (sodium phosphate), 335 Helical; (Potential). phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity skin(1) 1 TCCTGTCTGCCTTGCCGTTTG 0.507 NA 121 177 0 0 0.01441 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861926 25861926 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:25861926C>T uc003nfi.3 - 4 427 c.317G>A c.(316-318)GGG>GAG p.G106E SLC17A3_uc003nfk.3_Missense_Mutation_p.G184E|SLC17A3_uc011djz.1_Missense_Mutation_p.G184E|SLC17A3_uc011dka.1_Missense_Mutation_p.G106E NM_006632 NP_006623 O00476 NPT4_HUMAN solute carrier family 17 (sodium phosphate), 106 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity 0 AAACTGACCCCCAAGTATTGA 0.398 NA 48 157 0 0 0.01441 0 0 OR2J2 26707 broad.mit.edu 37 6 29142178 29142178 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:29142178G>T uc011dlm.1 + 1 868 c.766G>T c.(766-768)GTC>TTC p.V256F NM_030905 NP_112167 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, 256 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TTTCATTCCAGTCATGTGCAT 0.458 NA 58 134 3.37043e-27 5.05564e-27 0.01441 1 0 C6orf136 221545 broad.mit.edu 37 6 30617664 30617664 + Silent SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:30617664C>G uc003nqw.3 + 2 595 c.402C>G c.(400-402)TCC>TCG p.S134S C6orf136_uc003nqx.3_Silent_p.S315S|C6orf136_uc011dmn.1_Intron NM_001109938 NP_001103408 Q5SQH8 CF136_HUMAN hypothetical protein LOC221545 isoform 1 134 0 CCCACCCTTCCCCTGCCACCC 0.557 NA 77 124 0 0 0.01441 0 0 C6orf15 29113 broad.mit.edu 37 6 31079232 31079232 + Missense_Mutation SNP G G T rs150278073 byFrequency TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:31079232G>T uc003nsk.1 - 2 904 c.904C>A c.(904-906)CGC>AGC p.R302S NM_014070 NP_054789 Q6UXA7 CF015_HUMAN STG protein precursor 302 Pro-rich. 0 CCAGGAGGGCGGAGGACTCCA 0.532 NA 19 108 8.28177e-16 1.09657e-15 0.007413 1 0 NOTCH4 4855 broad.mit.edu 37 6 32190540 32190540 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:32190540G>T uc003obb.2 - 3 338 c.199C>A c.(199-201)CCC>ACC p.P67T NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.P67T NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 67 Extracellular (Potential).|EGF-like 2. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1) 22 TTCTGGCAGGGGTCAGGAAAC 0.567 NA 34 65 3.93418e-24 5.74069e-24 0.019004 1 0 SCUBE3 222663 broad.mit.edu 37 6 35210036 35210036 + Silent SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:35210036A>G uc003okf.1 + 13 1479 c.1473A>G c.(1471-1473)AAA>AAG p.K491K SCUBE3_uc003okg.1_Silent_p.K490K|SCUBE3_uc003okh.1_Silent_p.K378K NM_152753 NP_689966 Q8IX30 SCUB3_HUMAN signal peptide, CUB domain, EGF-like 3 491 protein heterooligomerization|protein homooligomerization cell surface|extracellular region calcium ion binding|protein binding skin(1) 1 AGGATGCCAAATGCCGTTTGC 0.542 NA 56 277 0 0 0.01441 0 0 DNAH8 1769 broad.mit.edu 37 6 38976690 38976690 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:38976690T>C uc003ooe.1 + 87 13264 c.12664T>C c.(12664-12666)TAT>CAT p.Y4222H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 GGCTATTGTTTATAGATTATC 0.438 NA 85 200 0 0 0.01441 0 0 CD2AP 23607 broad.mit.edu 37 6 47567080 47567080 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:47567080G>A uc003oyw.2 + 13 1774 c.1318G>A c.(1318-1320)GAG>AAG p.E440K NM_012120 NP_036252 Q9Y5K6 CD2AP_HUMAN CD2-associated protein 440 cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle SH3 domain binding|structural constituent of cytoskeleton ovary(1)|skin(1) 2 Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138) ATTTGAAACTGAGCCAGTATC 0.348 NA 4 37 0 0 0.014758 0 0 C6orf138 442213 broad.mit.edu 37 6 47976507 47976507 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:47976507C>G uc011dwm.1 - 2 804 c.719G>C c.(718-720)TGC>TCC p.C240S C6orf138_uc011dwn.1_Missense_Mutation_p.C4S|C6orf138_uc003ozf.2_Missense_Mutation_p.C257S NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN hypothetical protein LOC442213 257 SSD. integral to membrane hedgehog receptor activity central_nervous_system(1) 1 ACTGCGCAAGCAGTCCTTCAT 0.562 NA 15 31 0 0 0.007413 0 0 MUT 4594 broad.mit.edu 37 6 49412454 49412454 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:49412454C>A uc003ozg.3 - 9 1829 c.1574G>T c.(1573-1575)AGG>ATG p.R525M NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 525 fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) AGCTTGATCCCTGCTGGATTT 0.443 NA 27 73 7.92952e-12 9.86019e-12 0.021523 1 0 MUT 4594 broad.mit.edu 37 6 49425722 49425722 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:49425722G>A uc003ozg.3 - 3 690 c.435C>T c.(433-435)GGC>GGT p.G145G NM_000255 NP_000246 P22033 MUTA_HUMAN methylmalonyl Coenzyme A mutase precursor 145 G -> S (in MMAM; mut0). fatty acid beta-oxidation mitochondrial matrix cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity 0 Lung NSC(77;0.0376) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTGAATCATAGCCACGATGTG 0.403 NA 20 47 0 0 0.004656 0 0 EFHC1 114327 broad.mit.edu 37 6 52344532 52344532 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:52344532G>T uc003pap.3 + 9 1802 c.1587G>T c.(1585-1587)GCG>GCT p.A529A EFHC1_uc011dwv.1_Silent_p.A438A|EFHC1_uc011dww.1_Silent_p.A510A NM_018100 NP_060570 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 529 axoneme|neuronal cell body calcium ion binding|protein C-terminus binding ovary(2)|skin(1) 3 Lung NSC(77;0.109) AAGCACTCGCGTCAATTCAGA 0.478 NA 13 83 2.61681e-11 3.19833e-11 0.020292 1 0 DST 667 broad.mit.edu 37 6 56328479 56328479 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:56328479G>C uc003pdf.2 - 94 16442 c.16414C>G c.(16414-16416)CGA>GGA p.R5472G DST_uc003pcz.3_Missense_Mutation_p.R5294G|DST_uc011dxj.1_Missense_Mutation_p.R5323G|DST_uc011dxk.1_Missense_Mutation_p.R5334G|DST_uc003pcy.3_Missense_Mutation_p.R4968G|DST_uc003pcv.3_Missense_Mutation_p.R90G|DST_uc003pcw.3_Missense_Mutation_p.R51G|DST_uc003pcx.3_Missense_Mutation_p.R51G NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 7404 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CTTCGGCCTCGGGGTCGGAAA 0.582 NA 73 148 0 0 0.01441 0 0 DST 667 broad.mit.edu 37 6 56507224 56507224 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:56507224C>T uc003pdf.2 - 15 1785 c.1757G>A c.(1756-1758)GGA>GAA p.G586E DST_uc003pcz.3_Missense_Mutation_p.G408E|DST_uc011dxj.1_Missense_Mutation_p.G437E|DST_uc011dxk.1_Missense_Mutation_p.G448E|DST_uc011dxl.1_Missense_Mutation_p.G437E|DST_uc003pcy.3_Missense_Mutation_p.G82E|DST_uc003pdb.2_Missense_Mutation_p.G82E|DST_uc003pdc.3_Missense_Mutation_p.G82E|DST_uc003pdd.3_Missense_Mutation_p.G82E|DST_uc003pde.2_Missense_Mutation_p.G524E NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 408 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1) 14 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) AAGAGCATTTCCAGCAAGAAT 0.383 NA 33 58 0 0 0.015359 0 0 BAI3 577 broad.mit.edu 37 6 69759195 69759195 + Missense_Mutation SNP G G T rs112866971 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:69759195G>T uc003pev.3 + 15 2738 c.2290G>T c.(2290-2292)GCA>TCA p.A764S BAI3_uc010kak.2_Missense_Mutation_p.A764S NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 764 Extracellular (Potential). negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity lung(27)|ovary(8)|skin(6)|pancreas(4)|central_nervous_system(3)|urinary_tract(1)|breast(1) 50 all_lung(197;0.212) TGTTCTTGGCGCAGTCCTATA 0.274 NA 4 12 0.00116845 0.00123464 0.001168 1 0 SH3BGRL2 83699 broad.mit.edu 37 6 80383467 80383467 + Missense_Mutation SNP A A C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:80383467A>C uc003piz.1 + 2 361 c.182A>C c.(181-183)CAG>CCG p.Q61P NM_031469 NP_113657 Q9UJC5 SH3L2_HUMAN SH3 domain binding glutamic acid-rich protein 61 SH3-binding (Potential). nucleus SH3 domain binding 0 all_cancers(76;0.00188)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.174) BRCA - Breast invasive adenocarcinoma(397;0.0278) AAACCCACTCAGGGCAACCCC 0.453 NA 55 112 0 0 0.01441 0 0 RRAGD 58528 broad.mit.edu 37 6 90088977 90088977 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:90088977G>A uc003pnd.3 - 4 1008 c.725C>T c.(724-726)CCA>CTA p.P242L RRAGD_uc010kcc.2_Missense_Mutation_p.P91L NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Ras-related GTP binding D 242 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity ovary(2)|central_nervous_system(1) 3 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) CTCCAGAGTTGGGAGTTGTGG 0.323 NA 9 65 0 0 0.008291 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90572786 90572786 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:90572786C>T uc003pnr.2 + 7 1554 c.1358C>T c.(1357-1359)GCC>GTC p.A453V CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.2_Missense_Mutation_p.A453V|CASP8AP2_uc011dzz.1_Missense_Mutation_p.A453V NM_001137667 NP_001131139 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 453 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity ovary(2) 2 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) GAAGTTGATGCCATGCATCAG 0.353 Colon(187;1656 2025 17045 31481 39901) NA 4 145 0 0 0.009096 0 0 TMEM200A 114801 broad.mit.edu 37 6 130762171 130762171 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:130762171G>T uc003qca.2 + 3 1475 c.604G>T c.(604-606)GCC>TCC p.A202S TMEM200A_uc010kfh.2_Missense_Mutation_p.A202S|TMEM200A_uc010kfi.2_Missense_Mutation_p.A202S|TMEM200A_uc003qcb.2_Missense_Mutation_p.A202S NM_052913 NP_443145 Q86VY9 T200A_HUMAN transmembrane protein 200A 202 Cytoplasmic (Potential). integral to membrane ovary(1) 1 GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12) GAGCTCCTGTGCCTCGAGATT 0.463 NA 14 32 1.02788e-11 1.27446e-11 0.00499 1 0 WTAP 9589 broad.mit.edu 37 6 160176630 160176630 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr6:160176630G>T uc003qsl.2 + 8 1400 c.1178G>T c.(1177-1179)GGT>GTT p.G393V WTAP_uc003qso.2_Missense_Mutation_p.G274V NM_004906 NP_004897 Q15007 FL2D_HUMAN Wilms' tumour 1-associating protein isoform 1 393 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus 0 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) AATGTACAGGGTTCAGTTTTG 0.388 NA 10 33 3.86212e-05 4.23747e-05 0.008291 1 0 SDK1 221935 broad.mit.edu 37 7 4281522 4281522 + Silent SNP C C T rs141297041 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:4281522C>T uc003smx.2 + 43 6367 c.6228C>T c.(6226-6228)ACC>ACT p.T2076T SDK1_uc010kso.2_Silent_p.T1332T|SDK1_uc003smy.2_Silent_p.T563T|SDK1_uc003smz.2_Silent_p.T136T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 2076 Extracellular (Potential).|Cytoplasmic (Potential). cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) TCAAGAGCACCTTCTCCAAGA 0.627 NA 19 76 0 0 0.014323 0 0 USP42 84132 broad.mit.edu 37 7 6182611 6182611 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:6182611C>G uc011jwo.1 + 8 967 c.844C>G c.(844-846)CAG>GAG p.Q282E USP42_uc011jwn.1_Missense_Mutation_p.Q127E|USP42_uc010kth.1_Missense_Mutation_p.Q215E|USP42_uc011jwp.1_Missense_Mutation_p.Q282E|USP42_uc011jwq.1_Missense_Mutation_p.Q89E|USP42_uc011jwr.1_Missense_Mutation_p.Q127E NM_032172 NP_115548 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 282 cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity skin(2)|ovary(1)|pancreas(1)|breast(1) 5 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) GAAGCCGGAACAGCTTGATGG 0.537 NA 21 60 0 0 0.004656 0 0 DNAH11 8701 broad.mit.edu 37 7 21788230 21788230 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:21788230A>T uc003svc.2 + 53 8595 c.8564A>T c.(8563-8565)CAG>CTG p.Q2855L NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2855 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 CGAACCCCTCAGGGCTGTGCT 0.542 NA Kartagener_syndrome 38 68 0 0 0.00623 0 0 DNAH11 8701 broad.mit.edu 37 7 21789974 21789974 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:21789974C>A uc003svc.2 + 55 8984 c.8953C>A c.(8953-8955)CAG>AAG p.Q2985K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2985 AAA 4 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 GGTGCGACTACAGCTCAAAGT 0.368 NA Kartagener_syndrome 7 14 0.00307968 0.00323027 0.00308 1 0 GLI3 2737 broad.mit.edu 37 7 42007443 42007443 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:42007443G>C uc011kbh.1 - 14 2273 c.2182C>G c.(2182-2184)CTC>GTC p.L728V GLI3_uc011kbg.1_Missense_Mutation_p.L669V NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 728 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 GGAAGCTCGAGCCCACTGTTG 0.537 NA Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome 27 267 0 0 0.009535 0 0 IKZF1 10320 broad.mit.edu 37 7 50444256 50444256 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:50444256G>A uc003tow.3 + 5 354 c.186G>A c.(184-186)CAG>CAA p.Q62Q IKZF1_uc003tox.3_Silent_p.Q62Q|IKZF1_uc003toy.3_Silent_p.Q62Q|IKZF1_uc011kck.1_Intron|IKZF1_uc003toz.3_Silent_p.Q32Q|IKZF1_uc010kyx.2_Intron NM_006060 NP_006051 Q13422 IKZF1_HUMAN zinc finger protein, subfamily 1A, 1 (Ikaros) 62 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(74) haematopoietic_and_lymphoid_tissue(147)|lung(1) 148 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) TAGAGACTCAGAGTGATGAAG 0.433 NA D ALL 46 226 0 0 0.01441 0 0 ZNF716 441234 broad.mit.edu 37 7 57529498 57529498 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:57529498C>A uc011kdi.1 + 4 1443 c.1331C>A c.(1330-1332)GCC>GAC p.A444D NM_001159279 NP_001152751 zinc finger protein 716 ovary(2) 2 TGTGGGAAAGCCTTTACCTTC 0.373 NA 13 15 1.49906e-05 1.67038e-05 0.020292 1 0 CD36 948 broad.mit.edu 37 7 80276105 80276105 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:80276105G>T uc003uhc.2 + 6 733 c.49G>T c.(49-51)GCT>TCT p.A17S CD36_uc003uhd.3_Missense_Mutation_p.A17S|CD36_uc011kgv.1_Intron|CD36_uc003uhe.3_Missense_Mutation_p.A17S|CD36_uc003uhf.3_Missense_Mutation_p.A17S|CD36_uc003uhg.3_Missense_Mutation_p.A17S|CD36_uc003uhh.3_Missense_Mutation_p.A17S NM_001127444 NP_001120916 P16671 CD36_HUMAN CD36 antigen 17 Helical; (Potential). cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding ovary(1) 1 TGTCATTGGTGCTGTCCTGGC 0.458 NA 39 107 8.16277e-20 1.14439e-19 0.006999 1 0 HGF 3082 broad.mit.edu 37 7 81346644 81346644 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:81346644C>G uc003uhl.2 - 11 1474 c.1309G>C c.(1309-1311)GAG>CAG p.E437Q HGF_uc003uhm.2_Missense_Mutation_p.E432Q NM_000601 NP_000592 P14210 HGF_HUMAN hepatocyte growth factor isoform 1 437 Kringle 4. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity ovary(2)|central_nervous_system(2) 4 CAGTAATTCTCATTCAGCTTA 0.438 NA 25 58 0 0 0.00632 0 0 STEAP2 261729 broad.mit.edu 37 7 89856415 89856415 + Missense_Mutation SNP T T A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:89856415T>A uc003ujz.2 + 3 1016 c.623T>A c.(622-624)CTC>CAC p.L208H STEAP2_uc003ujy.2_Missense_Mutation_p.L250H|STEAP2_uc010len.2_Missense_Mutation_p.L208H|STEAP2_uc003uka.2_Missense_Mutation_p.L208H|STEAP2_uc003ukb.2_Missense_Mutation_p.L208H|STEAP2_uc003ukc.2_Missense_Mutation_p.L208H|STEAP2_uc003ukd.2_Missense_Mutation_p.L208H NM_152999 NP_694544 Q8NFT2 STEA2_HUMAN six transmembrane epithelial antigen of the 208 Helical; (Potential). electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity ovary(2) 2 all_hematologic(106;0.112) CCCCTACGACTCTTTACTCTC 0.428 NA 27 47 0 0 0.005443 0 0 NPTX2 4885 broad.mit.edu 37 7 98254413 98254413 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:98254413C>A uc003upl.2 + 3 1000 c.823C>A c.(823-825)CAG>AAG p.Q275K NM_002523 NP_002514 P47972 NPTX2_HUMAN neuronal pentraxin II precursor 275 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding central_nervous_system(2)|skin(1) 3 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) GGTGCCAGGGCAGGCCAACGA 0.642 NA 34 180 1.04352e-10 1.25397e-10 0.017118 1 0 NRCAM 4897 broad.mit.edu 37 7 107878195 107878195 + Splice_Site SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:107878195C>A uc003vfb.2 - 5 595 c.124_splice c.e5+1 p.L42_splice NRCAM_uc003vfc.2_Intron|NRCAM_uc011kmk.1_Splice_Site_p.L37_splice|NRCAM_uc003vfd.2_Splice_Site_p.L37_splice|NRCAM_uc003vfe.2_Splice_Site_p.L37_splice NM_001037132 NP_001032209 Q92823 NRCAM_HUMAN neuronal cell adhesion molecule isoform A angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly external side of plasma membrane|integral to plasma membrane ankyrin binding ovary(3)|breast(2) 5 AGGACACTTACAGTCTTCAAG 0.318 NA 4 14 0.00116845 0.00123464 0.001168 1 0 FLNC 2318 broad.mit.edu 37 7 128478674 128478674 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:128478674G>T uc003vnz.3 + 8 1437 c.1228G>T c.(1228-1230)GTT>TTT p.V410F FLNC_uc003voa.3_Missense_Mutation_p.V410F NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 410 Filamin 2. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CACTGGCGATGTTGCTGTGGT 0.657 NA 53 135 3.54697e-40 5.74207e-40 0.01441 1 0 DGKI 9162 broad.mit.edu 37 7 137269996 137269996 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:137269996G>T uc003vtt.2 - 14 1523 c.1522C>A c.(1522-1524)CCC>ACC p.P508T DGKI_uc003vtu.2_Missense_Mutation_p.P208T NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 508 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GGCAAGTCGGGGTTTCTTTCC 0.483 NA 49 79 1.38658e-30 2.13972e-30 0.01441 1 0 UBN2 254048 broad.mit.edu 37 7 138954223 138954223 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:138954223A>G uc011kqr.1 + 8 1550 c.1550A>G c.(1549-1551)AAA>AGA p.K517R UBN2_uc003vuv.2_Missense_Mutation_p.K240R NM_173569 NP_775840 Q6ZU65 UBN2_HUMAN ubinuclein 2 517 ovary(1)|skin(1) 2 CCATGCAATAAAGAAACACTA 0.393 NA 22 99 0 0 0.014323 0 0 DENND2A 27147 broad.mit.edu 37 7 140273808 140273808 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:140273808G>T uc010lnj.2 - 4 1391 c.1246C>A c.(1246-1248)CAG>AAG p.Q416K DENND2A_uc011kre.1_RNA|DENND2A_uc010lnk.2_Missense_Mutation_p.Q416K|DENND2A_uc003vvw.2_Missense_Mutation_p.Q416K|DENND2A_uc003vvx.2_Missense_Mutation_p.Q416K NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 416 ovary(3)|breast(1) 4 Melanoma(164;0.00956) GACAATGACTGCTGTGAAGGA 0.478 NA 120 153 1.93806e-58 3.28628e-58 0.01441 1 0 EPHB6 2051 broad.mit.edu 37 7 142568375 142568375 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:142568375A>T uc011kst.1 + 19 3681 c.2894A>T c.(2893-2895)TAC>TTC p.Y965F EPHB6_uc011ksu.1_Missense_Mutation_p.Y965F|EPHB6_uc003wbs.2_Missense_Mutation_p.Y673F|EPHB6_uc003wbt.2_Missense_Mutation_p.Y439F|EPHB6_uc003wbu.2_Missense_Mutation_p.Y673F|EPHB6_uc003wbv.2_Missense_Mutation_p.Y349F NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 965 SAM.|Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CTGGAGTGCTACCAGGACAAC 0.587 NA 56 209 0 0 0.01441 0 0 TRPV5 56302 broad.mit.edu 37 7 142627208 142627208 + Silent SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:142627208C>A uc003wby.1 - 3 558 c.294G>T c.(292-294)CTG>CTT p.L98L TRPV5_uc003wbz.2_Silent_p.L98L NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 98 Cytoplasmic (Potential).|ANK 2. protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity ovary(3)|central_nervous_system(2)|skin(1) 6 Melanoma(164;0.059) CAGCCTCCATCAGCACCAAGG 0.547 NA 48 71 6.26901e-30 9.60502e-30 0.01441 1 0 CASP2 835 broad.mit.edu 37 7 142988654 142988654 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:142988654G>T uc003wco.2 + 2 243 c.96G>T c.(94-96)ATG>ATT p.M32I CASP2_uc003wcp.2_Missense_Mutation_p.M32I|CASP2_uc011kta.1_5'UTR|CASP2_uc003wcq.2_RNA NM_032982 NP_116764 P42575 CASP2_HUMAN caspase 2 isoform 1 preproprotein 32 CARD. apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage cytosol cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding lung(2)|ovary(1) 3 Melanoma(164;0.059) TGTGTGGCATGCATCCTCATC 0.443 NA 76 139 4.20717e-43 6.91523e-43 0.01441 1 0 CLCN1 1180 broad.mit.edu 37 7 143039535 143039535 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:143039535G>T uc003wcr.1 + 16 1954 c.1867G>T c.(1867-1869)GGG>TGG p.G623W CLCN1_uc011ktc.1_Missense_Mutation_p.G235W NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 623 CBS 1.|Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TTACACATATGGGGAGTTGCG 0.478 NA 13 70 4.3838e-07 5.00173e-07 0.016723 1 0 CLCN1 1180 broad.mit.edu 37 7 143039586 143039586 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:143039586G>T uc003wcr.1 + 16 2005 c.1918G>T c.(1918-1920)GTT>TTT p.V640F CLCN1_uc011ktc.1_Missense_Mutation_p.V252F NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 640 CBS 1.|Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TTTACCACTGGTTGACTCAAA 0.507 NA 22 40 3.73148e-12 4.66707e-12 0.007291 1 0 FAM131B 9715 broad.mit.edu 37 7 143053910 143053910 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:143053910G>A uc003wct.2 - 6 2438 c.732C>T c.(730-732)TAC>TAT p.Y244Y FAM131B_uc010loz.2_Silent_p.Y212Y|FAM131B_uc003wcu.3_Silent_p.Y244Y|FAM131B_uc010lpa.2_Silent_p.Y272Y NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 244 0 Melanoma(164;0.205) CCAGAGCAGAGTATCCTGAAG 0.592 NA 44 214 0 0 0.01441 0 0 FAM131B 9715 broad.mit.edu 37 7 143056061 143056061 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:143056061G>C uc003wct.2 - 4 1947 c.241C>G c.(241-243)CGG>GGG p.R81G FAM131B_uc010loz.2_Missense_Mutation_p.R49G|FAM131B_uc003wcu.3_Missense_Mutation_p.R81G|FAM131B_uc010lpa.2_Missense_Mutation_p.R109G|ZYX_uc011ktd.1_5'Flank NM_014690 NP_055505 Q86XD5 F131B_HUMAN hypothetical protein LOC9715 isoform b 81 0 Melanoma(164;0.205) TGGGCCACCCGGCCTTGCCCC 0.577 NA 18 29 0 0 0.004656 0 0 FAM115A 9747 broad.mit.edu 37 7 143573331 143573331 + Missense_Mutation SNP A A G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr7:143573331A>G uc003wdo.1 - 2 504 c.371T>C c.(370-372)GTT>GCT p.V124A FAM115A_uc011ktu.1_Intron|FAM115A_uc003wdp.1_Missense_Mutation_p.V124A NM_014719 NP_055534 Q9Y4C2 F115A_HUMAN hypothetical protein LOC9747 124 0 Melanoma(164;0.0903) AATACAGTAAACCCCCAGGGA 0.512 NA 68 132 0 0 0.01441 0 0 POLB 5423 broad.mit.edu 37 8 42213036 42213036 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:42213036C>T uc003xoz.1 + 7 486 c.373C>T c.(373-375)CTC>TTC p.L125F POLB_uc003xpa.1_Missense_Mutation_p.L125F|POLB_uc011lcs.1_5'UTR NM_002690 NP_002681 P06746 DPOLB_HUMAN DNA-directed DNA polymerase beta 125 DNA-dependent DNA replication cytoplasm|nucleoplasm|spindle microtubule DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding ovary(1)|breast(1) 2 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151) BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024) Cytarabine(DB00987) CTATACAGATCTCAGAAAAAA 0.318 NA DNA_polymerases_(catalytic_subunits) 39 52 0 0 0.009718 0 0 KIAA0146 23514 broad.mit.edu 37 8 48309166 48309166 + Silent SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:48309166A>T uc003xqd.2 + 6 765 c.756A>T c.(754-756)TCA>TCT p.S252S KIAA0146_uc011lcz.1_Intron|KIAA0146_uc011lda.1_Intron|KIAA0146_uc011ldb.1_Silent_p.S252S|KIAA0146_uc010lxs.2_5'UTR|KIAA0146_uc011ldc.1_Silent_p.S182S|KIAA0146_uc011ldd.1_Silent_p.S192S|KIAA0146_uc003xqe.2_Intron|KIAA0146_uc003xqf.2_RNA|KIAA0146_uc011lde.1_Intron NM_001080394 NP_001073863 Q14159 K0146_HUMAN hypothetical protein LOC23514 252 0 Lung NSC(58;0.175) CAGAAAATTCAGCAAAGAAGA 0.313 NA 59 262 0 0 0.01441 0 0 CHD7 55636 broad.mit.edu 37 8 61769148 61769149 + Missense_Mutation DNP GG GG TT TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:61769148_61769149GG>TT uc003xue.2 + 34 7786_7787 c.7309_7310GG>TT c.(7309-7311)GGA>TTA p.G2437L NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2437 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) CTCAGAAAATGGACAAGAAAAA 0.426 NA 47 37 0 0 0.004672 0 0 NECAB1 64168 broad.mit.edu 37 8 91937876 91937876 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:91937876G>A uc011lgg.1 + 7 802 c.608G>A c.(607-609)AGC>AAC p.S203N NM_022351 NP_071746 Q8N987 NECA1_HUMAN N-terminal EF-hand calcium binding protein 1 203 antibiotic biosynthetic process cytoplasm calcium ion binding|oxidoreductase activity central_nervous_system(1) 1 BRCA - Breast invasive adenocarcinoma(11;0.0499) TTTAATGTCAGCGGTCCAGGT 0.408 NA 14 13 0 0 0.00499 0 0 GDF6 392255 broad.mit.edu 37 8 97172982 97172982 + Translation_Start_Site SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:97172982C>T uc003yhp.2 - 1 39 c.-61G>A c.(-63--59)CCGTG>CCATG NM_001001557 NP_001001557 Q6KF10 GDF6_HUMAN growth differentiation factor 6 precursor activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity ovary(1)|breast(1)|pancreas(1) 3 Breast(36;2.67e-05) GCGCGGGGCACGGAGCGGCTG 0.761 NA 10 15 0 0 0.010729 0 0 FAM135B 51059 broad.mit.edu 37 8 139263164 139263164 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:139263164G>T uc003yuy.2 - 6 633 c.462C>A c.(460-462)GTC>GTA p.V154V FAM135B_uc003yux.2_Silent_p.V55V|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 154 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGTCGAACATGACCGGGACCT 0.592 NA HNSCC(54;0.14) 41 290 1.07121e-22 1.54211e-22 0.006999 1 0 COL22A1 169044 broad.mit.edu 37 8 139691882 139691882 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:139691882G>C uc003yvd.2 - 40 3497 c.3050C>G c.(3049-3051)GCA>GGA p.A1017G COL22A1_uc011ljo.1_Intron NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1017 Pro-rich.|Gly-rich. cell adhesion collagen|cytoplasm structural molecule activity ovary(11)|pancreas(1)|skin(1) 13 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCTCCCAGTGCACAGTTTTC 0.343 NA HNSCC(7;0.00092) 3 195 0 0 0.009096 0 0 NAPRT1 93100 broad.mit.edu 37 8 144657383 144657383 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:144657383C>A uc003yym.3 - 11 1449 c.1424G>T c.(1423-1425)CGG>CTG p.R475L C8orf73_uc010mff.2_5'Flank|C8orf73_uc010mfg.1_5'Flank|NAPRT1_uc003yyn.3_Intron|NAPRT1_uc011lkh.1_Missense_Mutation_p.R475L|NAPRT1_uc003yyo.3_Missense_Mutation_p.R475L NM_145201 NP_660202 Q6XQN6 PNCB_HUMAN nicotinate phosphoribosyltransferase domain 475 nicotinamide metabolic process|nicotinate nucleotide salvage|response to oxidative stress|water-soluble vitamin metabolic process cytosol|Golgi apparatus|nucleus nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity ovary(1) 1 all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146) GAGGCAGAGCCGCAGTAGTGG 0.687 NA 6 6 0.000978159 0.00104646 0.010729 1 0 IFNA16 3449 broad.mit.edu 37 9 21216810 21216810 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:21216810C>A uc003zor.1 - 1 501 c.495G>T c.(493-495)GAG>GAT p.E165D IFNA14_uc003zoo.1_Intron NM_002173 NP_002164 P05015 IFN16_HUMAN interferon, alpha 16 precursor 165 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding skin(1) 1 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) CTCTGACAACCTCCCAGGCAC 0.408 NA 113 161 4.10022e-50 6.87107e-50 0.01441 1 0 PGM5 5239 broad.mit.edu 37 9 71002378 71002378 + Splice_Site SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:71002378G>A uc004agr.2 + 4 801 c.572_splice c.e4-1 p.V191_splice NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 TCTATCTTTAGTGGAGATAGT 0.408 NA 27 109 0 0 0.009535 0 0 TJP2 9414 broad.mit.edu 37 9 71869204 71869204 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:71869204G>T uc004ahe.2 + 23 3687 c.3487G>T c.(3487-3489)GAG>TAG p.E1163* TJP2_uc011lrs.1_Nonsense_Mutation_p.E993*|TJP2_uc004ahf.2_Nonsense_Mutation_p.E1016*|TJP2_uc011lru.1_Nonsense_Mutation_p.E1130*|TJP2_uc011lrv.1_Nonsense_Mutation_p.E1185*|TJP2_uc010mom.1_3'UTR NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN tight junction protein 2 (zona occludens 2) 1163 Poly-Glu. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding 0 TGATGCCGAGGAGGAGGAGTA 0.522 NA 17 70 6.94344e-10 8.20589e-10 0.006122 1 0 S1PR3 1903 broad.mit.edu 37 9 91616344 91616344 + Missense_Mutation SNP T T C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:91616344T>C uc004aqe.2 + 2 625 c.229T>C c.(229-231)TTC>CTC p.F77L NM_005226 NP_005217 Q99500 S1PR3_HUMAN sphingosine-1-phosphate receptor 3 77 Helical; Name=2; (By similarity). anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity ovary(2)|lung(1)|central_nervous_system(1)|skin(1) 5 CATGTACTTTTTCATTGGCAA 0.488 NA OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 125 0 0 0.007835 0 0 SLC35D2 11046 broad.mit.edu 37 9 99114336 99114336 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:99114336C>T uc004awc.2 - 5 479 c.403G>A c.(403-405)GAA>AAA p.E135K SLC35D2_uc010msd.2_RNA|SLC35D2_uc010mse.2_Intron|SLC35D2_uc010msf.2_Missense_Mutation_p.E135K|SLC35D2_uc004awd.2_Intron|SLC35D2_uc004awe.2_Missense_Mutation_p.E135K NM_007001 NP_008932 Q76EJ3 S35D2_HUMAN solute carrier family 35, member D2 135 Cytoplasmic (Potential). Golgi membrane|integral to membrane nucleotide-sugar transmembrane transporter activity 0 Acute lymphoblastic leukemia(62;0.0167) ATGATGGTTTCCAGAAGTAAG 0.463 NA 14 23 0 0 0.003163 0 0 HIATL2 84278 broad.mit.edu 37 9 99711865 99711865 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:99711865G>A uc004aws.2 - 4 581 c.367C>T c.(367-369)CCA>TCA p.P123S HIATL2_uc004awr.1_RNA NR_002894 RecName: Full=Hippocampus abundant transcript-like protein 2; 0 AGTGGGATTGGGAAGCAGGTA 0.478 NA 22 114 0 0 0.00874 0 0 NANS 54187 broad.mit.edu 37 9 100839261 100839261 + Missense_Mutation SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:100839261C>T uc004ayb.2 + 4 1052 c.410C>T c.(409-411)ACT>ATT p.T137I NANS_uc004ayc.2_Missense_Mutation_p.T137I|TRIM14_uc004ayd.2_Intron|NANS_uc004aye.1_5'Flank NM_018946 NP_061819 Q9NR45 SIAS_HUMAN N-acetylneuraminic acid phosphate synthase 137 lipopolysaccharide biosynthetic process cytoplasm N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity skin(1) 1 Acute lymphoblastic leukemia(62;0.0559) TCTGGAGACACTAATAATTTT 0.368 NA 12 52 0 0 0.020292 0 0 SVEP1 79987 broad.mit.edu 37 9 113261349 113261349 + Missense_Mutation SNP A A T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:113261349A>T uc010mtz.2 - 7 1990 c.1653T>A c.(1651-1653)AAT>AAA p.N551K SVEP1_uc010mua.1_Missense_Mutation_p.N551K|SVEP1_uc004beu.2_Missense_Mutation_p.N551K NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN polydom 551 Sushi 3. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding ovary(7) 7 GAACTCCGACATTCCATTTTC 0.413 NA 5 27 0 0 0.001984 0 0 ALAD 210 broad.mit.edu 37 9 116152888 116152888 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:116152888C>A uc011lxf.1 - 6 668 c.466G>T c.(466-468)GCG>TCG p.A156S ALAD_uc011lxe.1_Missense_Mutation_p.A139S|ALAD_uc004bhl.3_Missense_Mutation_p.A185S NM_000031 NP_000022 P13716 HEM2_HUMAN delta-aminolevulinic acid dehydratase 156 heme biosynthetic process|protein homooligomerization cytosol identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding 0 Aminolevulinic acid(DB00855) TTGGCATACGCCAATGCCACC 0.622 NA 6 24 0.00198382 0.00208593 0.001984 1 0 RGS3 5998 broad.mit.edu 37 9 116267776 116267776 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:116267776C>G uc004bhq.2 + 12 1161 c.952C>G c.(952-954)CCA>GCA p.P318A RGS3_uc004bhr.2_Missense_Mutation_p.P206A|RGS3_uc004bhs.2_Missense_Mutation_p.P208A|RGS3_uc004bht.2_Missense_Mutation_p.P37A|RGS3_uc010muy.2_Missense_Mutation_p.P37A|RGS3_uc004bhu.2_5'UTR NM_144488 NP_652759 P49796 RGS3_HUMAN regulator of G-protein signalling 3 isoform 6 318 PDZ. inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity ovary(1)|lung(1)|skin(1) 3 CTGCGACTCTCCAGTTCGAGT 0.572 NA 13 48 0 0 0.003163 0 0 OR1L3 26735 broad.mit.edu 37 9 125437724 125437724 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:125437724G>A uc011lzb.1 + 1 316 c.316G>A c.(316-318)GTT>ATT p.V106I NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN olfactory receptor, family 1, subfamily L, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTTCTTCCTGGTTTTTGGAAA 0.428 NA 45 166 0 0 0.011902 0 0 WDR34 89891 broad.mit.edu 37 9 131396070 131396070 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:131396070G>A uc004bvq.1 - 9 1688 c.1564C>T c.(1564-1566)CGG>TGG p.R522W WDR34_uc004bvs.1_Missense_Mutation_p.R513W|WDR34_uc004bvr.1_Missense_Mutation_p.R494W NM_052844 NP_443076 Q96EX3 WDR34_HUMAN WD repeat domain 34 522 cytoplasm central_nervous_system(2)|skin(1) 3 TCAGCTTCCCGGGGCCCTTGT 0.652 NA 6 242 0 0 0.001168 0 0 CDKL5 6792 broad.mit.edu 37 X 18668587 18668587 + Missense_Mutation SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:18668587G>A uc004cym.2 + 20 3108 c.2855G>A c.(2854-2856)CGA>CAA p.R952Q CDKL5_uc004cyn.2_Missense_Mutation_p.R952Q|RS1_uc004cyo.2_Intron NM_003159 NP_003150 O76039 CDKL5_HUMAN cyclin-dependent kinase-like 5 952 neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding ovary(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)|skin(1) 6 Hepatocellular(33;0.183) GTCCCAAACCGAGCCCTTCAT 0.567 NA 12 119 0 0 0.013537 0 0 FAM47B 170062 broad.mit.edu 37 X 34961142 34961142 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:34961142C>A uc004ddi.1 + 1 212 c.194C>A c.(193-195)CCT>CAT p.P65H NM_152631 NP_689844 Q8NA70 FA47B_HUMAN hypothetical protein LOC170062 65 ovary(3)|breast(1) 4 TGTCAGTCTCCTGAAGATACG 0.547 NA 42 15 5.82388e-19 8.00784e-19 0.01441 1 0 KDM5C 8242 broad.mit.edu 37 X 53239923 53239923 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:53239923C>A uc004drz.2 - 11 2051 c.1518G>T c.(1516-1518)ATG>ATT p.M506I KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.M439I|KDM5C_uc004dsa.2_Missense_Mutation_p.M505I NM_004187 NP_004178 P41229 KDM5C_HUMAN jumonji, AT rich interactive domain 1C isoform 506 JmjC. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1) 18 CTGAGAAGACCATGCCCACGT 0.517 NA N|F|S clear cell renal carcinoma 23 8 1.26454e-06 1.4276e-06 0.005443 1 0 GPR112 139378 broad.mit.edu 37 X 135430553 135430553 + Missense_Mutation SNP C C A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:135430553C>A uc004ezu.1 + 6 4979 c.4688C>A c.(4687-4689)TCC>TAC p.S1563Y GPR112_uc010nsb.1_Missense_Mutation_p.S1358Y|GPR112_uc010nsc.1_Missense_Mutation_p.S1330Y NM_153834 NP_722576 Q8IZF6 GP112_HUMAN G-protein coupled receptor 112 1563 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1) 12 Acute lymphoblastic leukemia(192;0.000127) TCTGAGATGTCCTCAATACCA 0.418 NA 83 32 1.10825e-40 1.80091e-40 0.01441 1 0 SLITRK2 84631 broad.mit.edu 37 X 144904510 144904510 + Missense_Mutation SNP G G C TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:144904510G>C uc004fcd.2 + 5 1557 c.567G>C c.(565-567)AGG>AGC p.R189S SLITRK2_uc010nsp.2_Missense_Mutation_p.R189S|SLITRK2_uc010nso.2_Missense_Mutation_p.R189S|SLITRK2_uc011mwq.1_Missense_Mutation_p.R189S|SLITRK2_uc011mwr.1_Missense_Mutation_p.R189S|SLITRK2_uc011mws.1_Missense_Mutation_p.R189S|SLITRK2_uc004fcg.2_Missense_Mutation_p.R189S|SLITRK2_uc011mwt.1_Missense_Mutation_p.R189S NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 189 Extracellular (Potential).|LRR 6. integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TAGACCTCAGGGGGAATAGGC 0.468 NA 54 94 0 0 0.01441 0 0 SLITRK2 84631 broad.mit.edu 37 X 144906366 144906366 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:144906366G>T uc004fcd.2 + 5 3413 c.2423G>T c.(2422-2424)AGG>ATG p.R808M SLITRK2_uc010nsp.2_Missense_Mutation_p.R808M|SLITRK2_uc010nso.2_Missense_Mutation_p.R808M|SLITRK2_uc011mwq.1_Missense_Mutation_p.R808M|SLITRK2_uc011mwr.1_Missense_Mutation_p.R808M|SLITRK2_uc011mws.1_Missense_Mutation_p.R808M|SLITRK2_uc004fcg.2_Missense_Mutation_p.R808M|SLITRK2_uc011mwt.1_Missense_Mutation_p.R808M|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 808 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) GGAACTCCCAGGAAATGCTTT 0.443 NA 75 31 2.72187e-29 4.14071e-29 0.01441 1 0 FMR1NB 158521 broad.mit.edu 37 X 147106432 147106432 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:147106432G>T uc004fcm.2 + 5 754 c.680G>T c.(679-681)GGT>GTT p.G227V NM_152578 NP_689791 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 227 Cytoplasmic (Potential). integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GTTGTAACGGGTTTGAAGAAA 0.408 NA 36 12 1.30998e-17 1.77843e-17 0.005524 1 0 MTM1 4534 broad.mit.edu 37 X 149783137 149783137 + Nonsense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:149783137G>T uc004fef.3 + 5 383 c.307G>T c.(307-309)GGA>TGA p.G103* MTM1_uc011mxx.1_RNA|MTM1_uc011mxy.1_Intron|MTM1_uc011mxz.1_Intron|MTM1_uc010nte.2_Intron NM_000252 NP_000243 Q13496 MTM1_HUMAN myotubularin 103 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) GACAAGTAGAGGAGAAAATTC 0.368 NA 10 6 1.61879e-10 1.92906e-10 0.013537 1 0 CNGA2 1260 broad.mit.edu 37 X 150908126 150908126 + Missense_Mutation SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:150908126G>T uc004fey.1 + 4 520 c.296G>T c.(295-297)CGT>CTT p.R99L NM_005140 NP_005131 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 99 Cytoplasmic (Potential). response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GAGCGTTTTCGTGGGCCTGAA 0.552 NA 83 24 4.78148e-37 7.59725e-37 0.01441 1 0 GABRA3 2556 broad.mit.edu 37 X 151424261 151424261 + Silent SNP G G T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:151424261G>T uc010ntk.1 - 5 780 c.540C>A c.(538-540)CTC>CTA p.L180L NM_000808 NP_000799 P34903 GBRA3_HUMAN gamma-aminobutyric acid A receptor, alpha 3 180 Extracellular (Probable). L -> P (in Ref. 3; AAH28629). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCATTGTATAGAGGAGGGTTC 0.478 NSCLC(142;2578 2613 10251 16743) NA 64 23 1.43675e-24 2.1181e-24 0.01441 1 0 PDZD4 57595 broad.mit.edu 37 X 153069678 153069678 + Silent SNP G G A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrX:153069678G>A uc004fiz.1 - 8 1690 c.1440C>T c.(1438-1440)ACC>ACT p.T480T PDZD4_uc004fiy.1_Silent_p.T405T|PDZD4_uc004fix.2_Silent_p.T384T|PDZD4_uc004fja.1_Silent_p.T486T|PDZD4_uc011mze.1_Silent_p.T371T NM_032512 NP_115901 Q76G19 PDZD4_HUMAN PDZ domain containing 4 480 cell cortex breast(1) 1 all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CAAGCAGCGGGGTGCTGCGGC 0.687 NA 5 4 0 0 0.021523 0 0 NLGN4Y 22829 broad.mit.edu 37 Y 16941629 16941629 + Silent SNP C C T TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chrY:16941629C>T uc004ftg.2 + 5 1083 c.831C>T c.(829-831)ATC>ATT p.I277I NLGN4Y_uc004fte.2_Silent_p.I109I|NLGN4Y_uc011nas.1_Silent_p.I297I|NLGN4Y_uc004ftf.2_5'UTR|NLGN4Y_uc004fth.2_Silent_p.I277I NM_014893 NP_055708 Q8NFZ3 NLGNY_HUMAN neuroligin 4, Y-linked isoform 1 277 Extracellular (Potential). brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|integral to plasma membrane|synapse neurexin binding|receptor activity 0 AGAAGGCCATCATTCAGAGCG 0.522 NA 21 19 0 0 0.005443 0 0 LCK 3932 broad.mit.edu 37 1 32741968 32741969 + Frame_Shift_Ins INS - - A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:32741968_32741969insA uc001bux.2 + 8 800_801 c.662_663insA c.(661-663)AGCfs p.S221fs LCK_uc001buy.2_Frame_Shift_Ins_p.S221fs|LCK_uc001buz.2_Frame_Shift_Ins_p.S221fs|LCK_uc010ohc.1_Frame_Shift_Ins_p.S265fs|LCK_uc001bva.2_Intron NM_005356 NP_005347 P06239 LCK_HUMAN lymphocyte-specific protein tyrosine kinase 221 SH2.|Interaction with PTPRH. activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding lung(3)|central_nervous_system(2)|ovary(1) 6 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) ACACGGTTGAGCCGCCCCTGCC 0.649 NA T TRB@ T-ALL 7 106 --- --- --- --- NA NA NA NA NA MIER1 57708 broad.mit.edu 37 1 67442326 67442326 + Frame_Shift_Del DEL A A - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:67442326delA uc001dde.2 + 12 1284 c.1150delA c.(1150-1152)AAAfs p.K384fs MIER1_uc010opf.1_Frame_Shift_Del_p.K348fs|MIER1_uc009way.2_Frame_Shift_Del_p.K348fs|MIER1_uc001ddc.2_Frame_Shift_Del_p.K384fs|MIER1_uc001ddh.2_Frame_Shift_Del_p.K268fs|MIER1_uc001ddf.2_Frame_Shift_Del_p.K348fs|MIER1_uc001ddg.2_Frame_Shift_Del_p.K304fs|MIER1_uc010opg.1_Frame_Shift_Del_p.K348fs|MIER1_uc001ddj.1_Frame_Shift_Del_p.K331fs|MIER1_uc001ddi.2_Frame_Shift_Del_p.K331fs NM_001077700 NP_001071168 Q8N108 MIER1_HUMAN mesoderm induction early response 1 isoform b 355 SANT. positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1) 1 TTACATGTGGAAAAAATCTGA 0.333 NA 26 140 --- --- --- --- NA NA NA NA NA FLG 2312 broad.mit.edu 37 1 152275261 152275286 + Frame_Shift_Del DEL TTATTAATATACGTTGCATAATACCT TTATTAATATACGTTGCATAATACCT - rs117440780 byFrequency TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 TTATTAATATACGTTGCATAATACCT TTATTAATATACGTTGCATAATACCT - - TTATTAATATACGTTGCATAATACCT TTATTAATATACGTTGCATAATACCT Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr1:152275261_152275286delTTATTAATATACGTTGCATAATACCT uc001ezu.1 - 3 12112_12137 c.12076_12101delAGGTATTATGCAACGTATATTAATAA c.(12076-12102)AGGTATTATGCAACGTATATTAATAAGfs p.R4026fs NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 4026_4034 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) ACCTGGGTCCTTATTAATATACGTTGCATAATACCTTGGATGATCT 0.363 NA Ichthyosis 16 89 --- --- --- --- NA NA NA NA NA LAMA1 284217 broad.mit.edu 37 18 6966226 6966226 + Frame_Shift_Del DEL C C - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr18:6966226delC uc002knm.2 - 49 7064 c.6970delG c.(6970-6972)GCTfs p.A2324fs LAMA1_uc002knl.2_5'Flank|LAMA1_uc010wzj.1_Frame_Shift_Del_p.A1800fs NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2324 Laminin G-like 2. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCACGGTAGCCGGAAGTGAC 0.473 NA 10 23 --- --- --- --- NA NA NA NA NA CNN2 1265 broad.mit.edu 37 19 1037646 1037646 + Frame_Shift_Del DEL C C - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr19:1037646delC uc002lqu.2 + 7 1040 c.677delC c.(676-678)ACCfs p.T226fs ABCA7_uc002lqw.3_5'Flank|CNN2_uc002lqv.2_Frame_Shift_Del_p.T187fs|CNN2_uc010xgb.1_Frame_Shift_Del_p.T215fs|CNN2_uc010xgc.1_Frame_Shift_Del_p.T247fs|ABCA7_uc010dsa.2_5'Flank NM_004368 NP_004359 Q99439 CNN2_HUMAN calponin 2 isoform a 226 Calponin-like 2. actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process cell-cell junction|stress fiber actin binding|calmodulin binding 0 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTCCCGGGACCCGGCGGCAC 0.552 NA 10 503 --- --- --- --- NA NA NA NA NA LPIN1 23175 broad.mit.edu 37 2 11913804 11913805 + Frame_Shift_Ins INS - - TT TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:11913804_11913805insTT uc010yjn.1 + 6 929_930 c.655_656insTT c.(655-657)CTGfs p.L219fs LPIN1_uc010yjm.1_Frame_Shift_Ins_p.L268fs|LPIN1_uc002rbt.2_Frame_Shift_Ins_p.L219fs|LPIN1_uc002rbs.2_Frame_Shift_Ins_p.L219fs NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 219 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) AAACCTCTCCCTGGCTGTGATT 0.446 NA 42 232 --- --- --- --- NA NA NA NA NA CEP68 23177 broad.mit.edu 37 2 65299464 65299470 + Frame_Shift_Del DEL GAGCGCA GAGCGCA - rs141435576 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 GAGCGCA GAGCGCA - - GAGCGCA GAGCGCA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr2:65299464_65299470delGAGCGCA uc002sdl.3 + 3 1448_1454 c.1234_1240delGAGCGCA c.(1234-1242)GAGCGCAGAfs p.E412fs CEP68_uc002sdj.2_Frame_Shift_Del_p.E412fs|CEP68_uc010yqb.1_Frame_Shift_Del_p.E412fs|CEP68_uc002sdk.3_Frame_Shift_Del_p.E412fs|CEP68_uc010yqc.1_Frame_Shift_Del_p.E412fs|CEP68_uc010yqd.1_Frame_Shift_Del_p.E412fs NM_015147 NP_055962 Q76N32 CEP68_HUMAN centrosomal protein 68kDa 412_414 centrosome organization centrosome skin(1) 1 TGCTCGTTGGGAGCGCAGAGAGCCAGC 0.623 NA 23 236 --- --- --- --- NA NA NA NA NA CHEK2 11200 broad.mit.edu 37 22 29090083 29090083 + Frame_Shift_Del DEL C C - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr22:29090083delC uc003adu.1 - 13 1470 c.1398delG c.(1396-1398)TTGfs p.L466fs CHEK2_uc003ads.1_Frame_Shift_Del_p.L245fs|CHEK2_uc010gvh.1_Frame_Shift_Del_p.L375fs|CHEK2_uc010gvi.1_Intron|CHEK2_uc010gvj.1_Intron|CHEK2_uc003adr.1_RNA|CHEK2_uc010gvk.1_RNA|CHEK2_uc003adt.1_Frame_Shift_Del_p.L509fs|CHEK2_uc003adv.1_Frame_Shift_Del_p.L437fs|CHEK2_uc003adw.1_Frame_Shift_Del_p.L466fs|CHEK2_uc003adx.1_Frame_Shift_Del_p.L245fs|CHEK2_uc003ady.1_Frame_Shift_Del_p.L455fs|CHEK2_uc003adz.1_Frame_Shift_Del_p.L270fs NM_007194 NP_009125 O96017 CHK2_HUMAN protein kinase CHK2 isoform a 466 Protein kinase. cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence PML body ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity central_nervous_system(17)|stomach(1)|ovary(1)|lung(1) 20 CCACTACCAACAACTTCTTGA 0.433 NA F breast Direct_reversal_of_damage|Other_conserved_DNA_damage_response_genes Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|CHEK2-associated_cancer 7 527 --- --- --- --- NA NA NA NA NA CCDC71 64925 broad.mit.edu 37 3 49200414 49200414 + Frame_Shift_Del DEL G G - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr3:49200414delG uc003cwg.3 - 2 1366 c.1228delC c.(1228-1230)CGAfs p.R410fs NM_022903 NP_075054 Q8IV32 CCD71_HUMAN coiled-coil domain containing 71 410 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TTAGGAGATCGGGGCCCAAGC 0.567 NA 72 101 --- --- --- --- NA NA NA NA NA UBE2D3 7323 broad.mit.edu 37 4 103722680 103722681 + Frame_Shift_Ins INS - - A TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr4:103722680_103722681insA uc003hwk.2 - 6 695_696 c.234_235insT c.(232-237)ATTAACfs p.I78fs UBE2D3_uc003hwi.2_Frame_Shift_Ins_p.I78fs|UBE2D3_uc003hwj.2_RNA|UBE2D3_uc003hwl.2_Frame_Shift_Ins_p.I78fs|UBE2D3_uc011cet.1_Frame_Shift_Ins_p.I78fs|UBE2D3_uc011ceu.1_Frame_Shift_Ins_p.I78fs|UBE2D3_uc003hwo.2_Frame_Shift_Ins_p.I78fs|UBE2D3_uc003hwp.2_Frame_Shift_Ins_p.I78fs|UBE2D3_uc003hwq.2_Frame_Shift_Ins_p.I80fs|UBE2D3_uc003hwr.2_Frame_Shift_Ins_p.I78fs NM_181887 NP_871616 P61077 UB2D3_HUMAN ubiquitin-conjugating enzyme E2D 3 isoform 1 78_79 apoptosis|BMP signaling pathway|DNA repair|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway endosome membrane|plasma membrane ATP binding|protein binding|ubiquitin-protein ligase activity 0 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.13e-08) CCATTACTGTTAATATTTGGAT 0.277 NA 10 28 --- --- --- --- NA NA NA NA NA PXDNL 137902 broad.mit.edu 37 8 52320781 52320781 + Frame_Shift_Del DEL C C - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:52320781delC uc003xqu.3 - 17 3504 c.3403delG c.(3403-3405)GTGfs p.V1135fs PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 1135 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GCCGAATCCACGGCCGCAGAA 0.542 NA 37 216 --- --- --- --- NA NA NA NA NA ZFHX4 79776 broad.mit.edu 37 8 77776623 77776624 + Frame_Shift_Del DEL TG TG - TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 TG TG - - TG TG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr8:77776623_77776624delTG uc003yav.2 + 11 10925_10926 c.10538_10539delTG c.(10537-10539)TTGfs p.L3513fs NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 3509 Ser-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(8)|large_intestine(4)|breast(2)|lung(1) 15 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACCTCAAGTTTGTGCAGCACCT 0.49 NA HNSCC(33;0.089) 21 142 --- --- --- --- NA NA NA NA NA ZNF658 26149 broad.mit.edu 37 9 40773144 40773144 + Frame_Shift_Del DEL C C - rs143209035 TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 0536b000-eaf3-4cb2-b46b-8dd9f23c8199 a325fcb5-f41c-40c5-bbfc-ac56d5af0b3d g.chr9:40773144delC uc004abs.2 - 5 2283 c.2131delG c.(2131-2133)GAGfs p.E711fs ZNF658_uc010mmm.1_Intron|ZNF658_uc010mmn.1_Frame_Shift_Del_p.E711fs NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 711 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TAGGGTTTCTCCCCCGTGTGA 0.403 NA 8 481 --- --- --- --- NA NA NA NA NA