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 MORN1 79906 broad.mit.edu 37 1 2288985 2288985 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:2288985C>T uc001ajb.1 - 10 943 c.922G>A c.(922-924)GGG>AGG p.G308R MORN1_uc009vld.2_Missense_Mutation_p.G284R|MORN1_uc001ajd.1_Missense_Mutation_p.G308R NM_024848 NP_079124 Q5T089 MORN1_HUMAN MORN repeat containing 1 308 ovary(2)|central_nervous_system(1) 3 all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212) GCTCTGGGCCCCGGCACCCCA 0.652 NA 32 97 0 0 0.002836 0 0 MEGF6 1953 broad.mit.edu 37 1 3427376 3427376 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:3427376C>A uc001akl.2 - 10 1432 c.1205G>T c.(1204-1206)CGG>CTG p.R402L MEGF6_uc001akk.2_Missense_Mutation_p.R297L NM_001409 NP_001400 O75095 MEGF6_HUMAN EGF-like-domain, multiple 3 precursor 402 EGF-like 7. extracellular region calcium ion binding large_intestine(1) 1 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) GGCACTGAGCCGGTAGCCGGC 0.672 Ovarian(73;978 3658) NA 23 48 1.66031e-10 2.44718e-10 0.003954 1 0 KIAA0562 9731 broad.mit.edu 37 1 3740027 3740027 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:3740027C>A uc001aky.2 - 19 2823 c.2464G>T c.(2464-2466)GAA>TAA p.E822* KIAA0562_uc010nzm.1_RNA NM_014704 NP_055519 O60308 CE104_HUMAN glycine-, glutamate-, 822 centriole binding 0 all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227) all_epithelial(116;3.96e-21)|all_lung(118;2.74e-08)|Lung NSC(185;6.4e-06)|Breast(487;0.00066)|Renal(390;0.00121)|Hepatocellular(190;0.00335)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.031)|Lung SC(97;0.0548)|Medulloblastoma(700;0.212) Epithelial(90;6.85e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.59e-22)|GBM - Glioblastoma multiforme(42;3.16e-16)|Colorectal(212;2.01e-05)|COAD - Colon adenocarcinoma(227;7.99e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000389)|Kidney(185;0.000513)|STAD - Stomach adenocarcinoma(132;0.00709)|KIRC - Kidney renal clear cell carcinoma(229;0.00714)|Lung(427;0.137) GGCAGCTCTTCCTTGAAAACA 0.542 NA 32 95 4.74835e-14 7.65149e-14 0.010818 1 0 MTOR 2475 broad.mit.edu 37 1 11182094 11182094 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:11182094C>T uc001asd.2 - 48 6873 c.6752G>A c.(6751-6753)CGG>CAG p.R2251Q MTOR_uc001asc.2_Missense_Mutation_p.R456Q NM_004958 NP_004949 P42345 MTOR_HUMAN FK506 binding protein 12-rapamycin associated 2251 PI3K/PI4K. cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity central_nervous_system(7)|lung(6)|ovary(6)|skin(3)|kidney(3)|large_intestine(2)|breast(2) 29 CCTGTAGTCCCGGATGAGGGC 0.577 NA 14 79 0 0 0.003163 0 0 AADACL4 343066 broad.mit.edu 37 1 12711243 12711243 + Silent SNP C C A rs140616597 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:12711243C>A uc001auf.2 + 2 270 c.270C>A c.(268-270)ACC>ACA p.T90T NM_001013630 NP_001013652 Q5VUY2 ADCL4_HUMAN arylacetamide deacetylase-like 4 90 Lumenal (Potential). integral to membrane carboxylesterase activity 0 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|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;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384) TTGTGGTGACCGACCTGCGTT 0.502 NA 27 42 2.79863e-10 4.09588e-10 0.004656 1 0 PRDM2 7799 broad.mit.edu 37 1 14107117 14107117 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:14107117G>T uc001avi.2 + 8 3683 c.2827G>T c.(2827-2829)GAT>TAT p.D943Y PRDM2_uc001avg.2_Intron|PRDM2_uc001avh.2_Missense_Mutation_p.D943Y|PRDM2_uc001avj.2_Intron|PRDM2_uc001avk.2_Missense_Mutation_p.D742Y|PRDM2_uc009voe.2_Intron|PRDM2_uc009vof.2_Intron NM_012231 NP_036363 Q13029 PRDM2_HUMAN retinoblastoma protein-binding zinc finger 943 Pro-rich. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) GTCCACACCTGATGTTTGTCC 0.582 NA 60 154 1.83847e-13 2.93966e-13 0.00361 1 0 ALDH4A1 8659 broad.mit.edu 37 1 19209835 19209835 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:19209835C>A uc001bbb.2 - 6 817 c.541G>T c.(541-543)GAG>TAG p.E181* ALDH4A1_uc010ocu.1_Nonsense_Mutation_p.E121*|ALDH4A1_uc001bbc.2_Nonsense_Mutation_p.E181* NM_170726 NP_733844 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4A1 isoform a precursor 181 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity 0 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) TGCTGCCCCTCCAGCTCCACC 0.637 NA 21 30 6.33239e-15 1.042e-14 0.010504 1 0 KIAA0090 23065 broad.mit.edu 37 1 19549300 19549300 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:19549300C>T uc001bbo.2 - 20 2448 c.2405G>A c.(2404-2406)CGC>CAC p.R802H KIAA0090_uc001bbn.2_5'Flank|KIAA0090_uc001bbp.2_Missense_Mutation_p.R801H|KIAA0090_uc001bbq.2_Missense_Mutation_p.R801H|KIAA0090_uc001bbr.2_Missense_Mutation_p.R780H NM_015047 NP_055862 Q8N766 K0090_HUMAN hypothetical protein LOC23065 precursor 802 DUF1620.|Extracellular (Potential). integral to membrane protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656) AAACTCGTTGCGCCGAGCCTT 0.592 GBM(4;72 124 25802 30195) NA 4 38 0 0 0.009096 0 0 NIPAL3 57185 broad.mit.edu 37 1 24768625 24768626 + Silent DNP CC CC TT TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:24768625_24768626CC>TT uc001bjh.2 + 4 650_651 c.243_244CC>TT c.(241-246)TTCCTG>TTTTTG p.81_82FL>FL NIPAL3_uc010oek.1_Silent_p.81_82FL>FL|NIPAL3_uc001bjg.2_Silent_p.81_82FL>FL|NIPAL3_uc009vrc.2_5'UTR NM_020448 NP_065181 Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 81_82 Helical; (Potential). integral to membrane 0 TGGGCCTGTTCCTGATGCTTCT 0.574 NA 31 80 0 0 0.004672 0 0 CATSPER4 378807 broad.mit.edu 37 1 26517187 26517187 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:26517187G>T uc010oez.1 + 1 69 c.69G>T c.(67-69)GGG>GGT p.G23G CATSPER4_uc010oey.1_5'UTR|CATSPER4_uc009vsf.2_RNA NM_198137 NP_937770 Q7RTX7 CTSR4_HUMAN cation channel, sperm associated 4 23 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity ovary(1) 1 all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649) GGTGGGGCGGGACTCAGGAGG 0.597 NA 11 33 2.27111e-07 2.96771e-07 0.001368 1 0 GJB4 127534 broad.mit.edu 37 1 35227283 35227283 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:35227283C>A uc001bxv.1 + 2 798 c.428C>A c.(427-429)GCT>GAT p.A143D GJB4_uc001bxw.3_Missense_Mutation_p.A143D NM_153212 NP_694944 Q9NTQ9 CXB4_HUMAN gap junction protein, beta 4 143 Helical; (Potential). cell communication connexon complex|integral to membrane gap junction channel activity ovary(2)|central_nervous_system(1) 3 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234) GCCGTGGATGCTGGCTTCCTC 0.607 NA 17 44 2.48551e-13 3.94384e-13 0.00499 1 0 RAD54L 8438 broad.mit.edu 37 1 46726526 46726526 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:46726526G>C uc009vye.2 + 8 719 c.605G>C c.(604-606)CGC>CCC p.R202P RAD54L_uc001cpl.2_Missense_Mutation_p.R202P|RAD54L_uc001cpm.1_Missense_Mutation_p.R22P NM_001142548 NP_001136020 Q92698 RAD54_HUMAN RAD54-like protein 202 Helicase ATP-binding. meiosis nucleus ATP binding|DNA binding|helicase activity ovary(2)|skin(1) 3 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) ACACTTTTACGCCAGAGTCCA 0.547 NA Direct_reversal_of_damage|Homologous_recombination 9 37 0 0 0.004482 0 0 LRRC7 57554 broad.mit.edu 37 1 70504765 70504765 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:70504765A>G uc001dep.2 + 19 3174 c.3144A>G c.(3142-3144)ATA>ATG p.I1048M LRRC7_uc009wbg.2_Missense_Mutation_p.I332M|LRRC7_uc001deq.2_Missense_Mutation_p.I289M NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1048 centrosome|focal adhesion|nucleolus protein binding ovary(9)|breast(2)|central_nervous_system(2)|liver(1) 14 AAAAGAGGATACCACCCCCTT 0.448 NA 8 31 0 0 0.008291 0 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510025 77510025 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:77510025G>T uc001dhi.2 + 3 573 c.398G>T c.(397-399)CGT>CTT p.R133L ST6GALNAC5_uc010ori.1_Intron|ST6GALNAC5_uc009wbw.2_RNA NM_030965 NP_112227 Q9BVH7 SIA7E_HUMAN sialyltransferase 7E 133 Lumenal (Potential). protein glycosylation integral to Golgi membrane sialyltransferase activity pancreas(1)|skin(1) 2 GGCTATGGGCGTGACGTGGGC 0.622 NA 26 59 3.73808e-20 6.75897e-20 0.005443 1 0 PRKACB 5567 broad.mit.edu 37 1 84679969 84679969 + Missense_Mutation SNP C C T rs143624941 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:84679969C>T uc001djj.2 + 9 1163 c.899C>T c.(898-900)ACG>ATG p.T300M PRKACB_uc001djl.2_Missense_Mutation_p.T347M|PRKACB_uc010ort.1_Missense_Mutation_p.T307M|PRKACB_uc001djn.2_Missense_Mutation_p.T304M|PRKACB_uc010oru.1_Missense_Mutation_p.T288M|PRKACB_uc001djp.2_Missense_Mutation_p.T306M|PRKACB_uc001djq.2_Missense_Mutation_p.T270M|PRKACB_uc010orv.1_Missense_Mutation_p.T287M NM_002731 NP_002722 P22694 KAPCB_HUMAN cAMP-dependent protein kinase catalytic subunit 300 AGC-kinase C-terminal. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding lung(2)|ovary(1) 3 all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141) TGGTTTGCCACGACAGATTGG 0.363 NA 4 24 0 0 0.000602 0 0 WDR63 126820 broad.mit.edu 37 1 85547055 85547055 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:85547055G>T uc001dkt.2 + 4 433 c.242G>T c.(241-243)AGA>ATA p.R81I WDR63_uc009wcl.2_Missense_Mutation_p.R81I NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN WD repeat domain 63 81 upper_aerodigestive_tract(2)|ovary(2)|skin(1) 5 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CTGCGCAACAGAGCTGCAGTA 0.378 NA 9 36 1.12685e-05 1.36628e-05 0.004482 1 0 GLMN 11146 broad.mit.edu 37 1 92733549 92733549 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:92733549T>A uc001dor.2 - 11 1134 c.1019A>T c.(1018-1020)GAG>GTG p.E340V GLMN_uc009wdg.2_RNA|GLMN_uc001dos.2_Missense_Mutation_p.E340V NM_053274 NP_444504 Q92990 GLMN_HUMAN glomulin 340 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding skin(1) 1 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TAAACTATTCTCCAGCAGCTC 0.294 NA Multiple_Glomus_Tumors_(of_the_Skin)_Familial 15 67 0 0 0.00245 0 0 LPPR4 9890 broad.mit.edu 37 1 99771914 99771914 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:99771914C>A uc001dse.2 + 7 1746 c.1640C>A c.(1639-1641)TCC>TAC p.S547Y LPPR4_uc010oue.1_Missense_Mutation_p.S489Y NM_014839 NP_055654 Q7Z2D5 LPPR4_HUMAN plasticity related gene 1 547 phosphatidate phosphatase activity ovary(3) 3 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATAAGCACCTCCCCCAAAAGC 0.537 NA 42 104 1.57019e-19 2.79845e-19 0.007835 1 0 COL11A1 1301 broad.mit.edu 37 1 103449739 103449739 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:103449739A>T uc001dul.2 - 31 2829 c.2511T>A c.(2509-2511)CTT>CTA p.L837L COL11A1_uc001duk.2_Nonsense_Mutation_p.L28*|COL11A1_uc001dum.2_Silent_p.L849L|COL11A1_uc001dun.2_Silent_p.L798L|COL11A1_uc009weh.2_Silent_p.L721L NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 837 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CTGGAACTCCAAGTTTTCCCT 0.214 NA 7 8 0 0 0.001984 0 0 VANGL1 81839 broad.mit.edu 37 1 116206606 116206606 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:116206606G>C uc001efv.1 + 4 800 c.529G>C c.(529-531)GCT>CCT p.A177P VANGL1_uc009wgy.1_Missense_Mutation_p.A175P|VANGL1_uc001efw.1_Missense_Mutation_p.A177P NM_138959 NP_620409 Q8TAA9 VANG1_HUMAN vang-like 1 177 Cytoplasmic (Potential). multicellular organismal development integral to membrane protein binding central_nervous_system(1) 1 Lung SC(450;0.211) all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CAAGCGGAGAGCTGACATGCC 0.488 NA 22 129 0 0 0.00278 0 0 MTMR11 10903 broad.mit.edu 37 1 149907245 149907245 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:149907245G>C uc001etl.3 - 4 523 c.272C>G c.(271-273)CCC>CGC p.P91R MTMR11_uc001etm.1_Missense_Mutation_p.P19R|MTMR11_uc010pbm.1_Missense_Mutation_p.P63R|MTMR11_uc010pbn.1_5'Flank|MTMR11_uc010pbo.1_RNA NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN myotubularin related protein 11 isoform a 91 phosphatase activity central_nervous_system(1) 1 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ACTGTTCAAGGGAGTGTCCTA 0.532 NA 26 28 0 0 0.00632 0 0 LCE2D 353141 broad.mit.edu 37 1 152636902 152636902 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:152636902G>T uc001fag.2 + 2 376 c.321G>T c.(319-321)GGG>GGT p.G107G NM_178430 NP_848517 Q5TA82 LCE2D_HUMAN late cornified envelope 2D 107 Cys-rich. keratinization 0 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ACAGCTCTGGGGGCTGCTGCT 0.592 NA 24 145 2.21704e-12 3.42183e-12 0.00278 1 0 TDRD10 126668 broad.mit.edu 37 1 154519884 154519884 + Splice_Site SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:154519884G>C uc009wow.2 + 12 1791 c.953_splice c.e12-1 p.D318_splice TDRD10_uc001ffd.2_Splice_Site_p.D318_splice|TDRD10_uc001ffe.2_Splice_Site_p.D239_splice NM_001098475 NP_001091945 Q5VZ19 TDR10_HUMAN tudor domain containing 10 isoform a nucleotide binding|RNA binding ovary(1) 1 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) TTGTTTTGCAGACATTTTGAG 0.512 NA 10 79 0 0 0.008291 0 0 INSRR 3645 broad.mit.edu 37 1 156811916 156811916 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:156811916C>A uc010pht.1 - 19 3639 c.3385G>T c.(3385-3387)GTC>TTC p.V1129F NTRK1_uc001fqf.1_Missense_Mutation_p.T18K|NTRK1_uc009wsi.1_5'UTR NM_014215 NP_055030 P14616 INSRR_HUMAN insulin receptor-related receptor precursor 1129 Cytoplasmic (Potential).|Protein kinase. 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) CCGATCTTGACGGTGAAGTCC 0.443 NA 8 55 3.09899e-07 3.99083e-07 0.004482 1 0 PEAR1 375033 broad.mit.edu 37 1 156876502 156876502 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:156876502C>A uc001fqj.1 + 6 590 c.474C>A c.(472-474)CCC>CCA p.P158P PEAR1_uc009wsl.1_Silent_p.P20P|PEAR1_uc001fqk.1_5'UTR NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 158 integral to membrane ovary(2)|central_nervous_system(1) 3 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) CGTGTGATCCCAAGAGTGGGG 0.627 NA 68 69 2.92363e-43 5.57822e-43 0.00361 1 0 PYHIN1 149628 broad.mit.edu 37 1 158913591 158913591 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:158913591T>C uc001ftb.2 + 6 1259 c.1014T>C c.(1012-1014)AAT>AAC p.N338N PYHIN1_uc001ftc.2_Silent_p.N329N|PYHIN1_uc001ftd.2_Silent_p.N338N|PYHIN1_uc001fte.2_Silent_p.N329N NM_152501 NP_689714 Q6K0P9 IFIX_HUMAN pyrin and HIN domain family, member 1 alpha 1 338 HIN-200. cell cycle nuclear speck ovary(3)|pancreas(1) 4 all_hematologic(112;0.0378) AAATTGTAAATAGGAAGACGA 0.343 NA 11 23 0 0 0.010729 0 0 SLAMF9 89886 broad.mit.edu 37 1 159923135 159923135 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:159923135T>C uc001fus.2 - 2 472 c.355A>G c.(355-357)ATC>GTC p.I119V SLAMF9_uc009wtd.2_Missense_Mutation_p.I119V|SLAMF9_uc001fut.2_Intron NM_033438 NP_254273 Q96A28 SLAF9_HUMAN SLAM family member 9 isoform 1 119 Extracellular (Potential). integral to membrane ovary(1) 1 all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) ATGGTAGAGATCTGGGATGTT 0.498 NA 61 63 0 0 0.00361 0 0 SLAMF1 6504 broad.mit.edu 37 1 160616670 160616670 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:160616670G>C uc001fwl.3 - 1 412 c.66C>G c.(64-66)AGC>AGG p.S22R SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_RNA|SLAMF1_uc001fwm.2_Missense_Mutation_p.S22R NM_003037 NP_003028 Q13291 SLAF1_HUMAN signaling lymphocytic activation molecule family 22 Extracellular (Potential). interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation integral to membrane antigen binding|transmembrane receptor activity ovary(1)|breast(1) 2 all_cancers(52;4.94e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CTGTTCCGTAGCTTGCCCCAA 0.557 NA 6 42 0 0 0.001168 0 0 PVRL4 81607 broad.mit.edu 37 1 161049471 161049471 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:161049471G>A uc001fxo.2 - 2 647 c.348C>T c.(346-348)AAC>AAT p.N116N NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN poliovirus receptor-related 4 precursor 116 Ig-like V-type 1.|Extracellular (Potential). adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane ovary(2) 2 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CCTGCACTGCGTTGCGCAGGA 0.701 NSCLC(76;1160 1387 14476 16172 29359) NA 7 51 0 0 0.001984 0 0 SLC9A11 284525 broad.mit.edu 37 1 173569280 173569280 + Silent SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:173569280T>A uc001giz.2 - 3 627 c.204A>T c.(202-204)GGA>GGT p.G68G SLC9A11_uc010pmq.1_Intron NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 68 Helical; (Potential). sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 AGGCCATGTGTCCTATCACGA 0.313 NA 30 30 0 0 0.004289 0 0 CACNA1E 777 broad.mit.edu 37 1 181479632 181479632 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:181479632C>A uc001gow.2 + 2 451 c.286C>A c.(286-288)CTG>ATG p.L96M CACNA1E_uc009wxr.2_Missense_Mutation_p.L3M|CACNA1E_uc009wxs.2_Missense_Mutation_p.L3M NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 96 I.|Helical; Name=S1 of repeat I. energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 GTACATGATCCTGGCCACCAT 0.537 NA 5 37 0.000602214 0.000670085 0.000602 1 0 NCF2 4688 broad.mit.edu 37 1 183536055 183536055 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:183536055C>A uc001gqj.3 - 9 1199 c.924G>T c.(922-924)CAG>CAT p.Q308H NCF2_uc010pod.1_Missense_Mutation_p.Q263H|NCF2_uc010poe.1_Missense_Mutation_p.Q227H|NCF2_uc001gqk.3_Missense_Mutation_p.Q308H NM_000433 NP_000424 P19878 NCF2_HUMAN neutrophil cytosolic factor 2 308 cellular defense response|innate immune response|respiratory burst|superoxide anion generation NADPH oxidase complex|nucleolus electron carrier activity|protein C-terminus binding ovary(3) 3 ATCACATTACCTGGGGCTGCT 0.542 NA 32 45 3.62531e-18 6.28117e-18 0.004289 1 0 TPR 7175 broad.mit.edu 37 1 186324788 186324788 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:186324788C>A uc001grv.2 - 16 2298 c.2001G>T c.(1999-2001)GAG>GAT p.E667D NM_003292 NP_003283 P12270 TPR_HUMAN nuclear pore complex-associated protein TPR 667 Potential. carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity ovary(2)|lung(2)|urinary_tract(1)|central_nervous_system(1)|skin(1) 7 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) CAGCCTTAGCCTCTATAGCCT 0.413 NA T NTRK1 papillary thyroid 15 88 1.3612e-06 1.72438e-06 0.003163 1 0 F13B 2165 broad.mit.edu 37 1 197026449 197026449 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:197026449C>T uc001gtt.1 - 6 996 c.952G>A c.(952-954)GAT>AAT p.D318N NM_001994 NP_001985 P05160 F13B_HUMAN coagulation factor XIII B subunit precursor 318 Sushi 5. blood coagulation extracellular region upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 3 CATTTTCCATCTTCACAACGT 0.358 NA 12 92 0 0 0.010729 0 0 NFASC 23114 broad.mit.edu 37 1 204985633 204985633 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:204985633C>T uc001hbj.2 + 30 4017 c.3689C>T c.(3688-3690)ACG>ATG p.T1230M NFASC_uc010pra.1_Missense_Mutation_p.T1164M|NFASC_uc001hbi.2_Missense_Mutation_p.T1159M|NFASC_uc010prb.1_Missense_Mutation_p.T1179M|NFASC_uc010prc.1_Missense_Mutation_p.T730M|NFASC_uc001hbl.1_Missense_Mutation_p.T306M|NFASC_uc001hbm.1_Missense_Mutation_p.T253M|NFASC_uc009xbh.1_Missense_Mutation_p.R85C|NFASC_uc001hbo.1_Missense_Mutation_p.R106C NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1337 Cytoplasmic (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) TCAGAGGCCACGTCACCTGTC 0.562 NA 35 47 0 0 0.003755 0 0 TRAF5 7188 broad.mit.edu 37 1 211534059 211534059 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:211534059T>C uc001hih.2 + 6 619 c.559T>C c.(559-561)TTG>CTG p.L187L TRAF5_uc001hii.2_Silent_p.L187L|TRAF5_uc010psx.1_Silent_p.L198L|TRAF5_uc010psy.1_Intron|TRAF5_uc001hij.2_Silent_p.L187L NM_004619 NP_004610 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 187 TRAF-type 2. apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding lung(2)|breast(2)|ovary(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TGAGGAAAACTTGTGTCCTGA 0.368 NA 7 43 0 0 0.00308 0 0 TMEM206 55248 broad.mit.edu 37 1 212553283 212553283 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:212553283C>T uc001hjc.3 - 5 760 c.592G>A c.(592-594)GCC>ACC p.A198T TMEM206_uc010pte.1_Missense_Mutation_p.A259T NM_018252 NP_060722 Q9H813 TM206_HUMAN transmembrane protein 206 198 Extracellular (Potential). integral to membrane breast(1) 1 all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148) TAATCAATGGCGCTGAAGTCC 0.502 NA 9 96 0 0 0.006214 0 0 PTPN14 5784 broad.mit.edu 37 1 214575100 214575100 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:214575100T>C uc001hkk.1 - 7 868 c.597A>G c.(595-597)GCA>GCG p.A199A PTPN14_uc010pty.1_Silent_p.A100A NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 199 FERM. lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GTTCAGCTTCTGCTGGCAGGA 0.443 Colon(92;557 1424 24372 34121 40073) NA 65 60 0 0 0.00361 0 0 USH2A 7399 broad.mit.edu 37 1 216420066 216420067 + Missense_Mutation DNP GG GG TT TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:216420066_216420067GG>TT uc001hku.1 - 13 3056_3057 c.2669_2670CC>AA c.(2668-2670)ACC>AAA p.T890K USH2A_uc001hkv.2_Missense_Mutation_p.T890K NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 890 Laminin EGF-like 7.|Extracellular (Potential). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) AATTGTCAATGGTCAAATTGTA 0.475 NA HNSCC(13;0.011) 22 200 0 0 0.004672 0 0 FBXO28 23219 broad.mit.edu 37 1 224318265 224318265 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:224318265T>G uc001hoh.2 + 2 400 c.359T>G c.(358-360)GTT>GGT p.V120G FBXO28_uc009xef.2_Missense_Mutation_p.V120G|FBXO28_uc010pvc.1_5'UTR NM_015176 NP_055991 Q9NVF7 FBX28_HUMAN F-box protein 28 isoform a 120 ovary(2)|kidney(2)|lung(1) 5 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) CAGAAACAAGTTAAAGCACAA 0.393 NA 23 24 0 0 0.012319 0 0 NID1 4811 broad.mit.edu 37 1 236175324 236175324 + Silent SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:236175324T>G uc001hxo.2 - 12 2526 c.2424A>C c.(2422-2424)CCA>CCC p.P808P NID1_uc009xgd.2_Intron|NID1_uc009xgc.2_5'UTR NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 808 EGF-like 5; calcium-binding (Potential). cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GACATCGGCTTGGCTGGCATT 0.507 NA 4 66 0 0 0.001168 0 0 ACTN2 88 broad.mit.edu 37 1 236881227 236881227 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:236881227T>A uc001hyf.2 + 2 400 c.196T>A c.(196-198)TTC>ATC p.F66I ACTN2_uc001hyg.2_5'UTR|ACTN2_uc009xgi.1_Missense_Mutation_p.F66I NM_001103 NP_001094 P35609 ACTN2_HUMAN actinin, alpha 2 66 CH 1.|Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding ovary(4)|skin(1) 5 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CGAGGAAGACTTCAGGAATGG 0.463 NA 24 27 0 0 0.00333 0 0 RYR2 6262 broad.mit.edu 37 1 237729937 237729937 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:237729937A>T uc001hyl.1 + 28 3405 c.3285A>T c.(3283-3285)GCA>GCT p.A1095A NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 1095 Cytoplasmic (By similarity).|4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGACCTATGCAGTGAAGGCCG 0.557 NA 77 79 0 0 0.00361 0 0 RYR2 6262 broad.mit.edu 37 1 237813181 237813181 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:237813181C>T uc001hyl.1 + 50 7637 c.7517C>T c.(7516-7518)GCT>GTT p.A2506V NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 2506 Cytoplasmic (By similarity).|4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTTCAGGCAGCTTTGAGTGCT 0.458 NA 24 120 0 0 0.00333 0 0 RYR2 6262 broad.mit.edu 37 1 237947313 237947313 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:237947313C>A uc001hyl.1 + 90 12421 c.12301C>A c.(12301-12303)CTT>ATT p.L4101I RYR2_uc010pya.1_Missense_Mutation_p.L516I NM_001035 NP_001026 Q92736 RYR2_HUMAN cardiac muscle ryanodine receptor 4101 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1) 33 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CGTCGCCGTCCTTCTGACAAA 0.517 NA 19 22 2.94398e-08 3.98945e-08 0.007413 1 0 ZP4 57829 broad.mit.edu 37 1 238049109 238049109 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:238049109G>C uc001hym.2 - 7 917 c.917C>G c.(916-918)CCC>CGC p.P306R LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 306 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CTCAGGAAAGGGTGGTGGGAG 0.502 NSCLC(166;160 2029 11600 18754 19936) NA 42 38 0 0 0.006999 0 0 WDR64 128025 broad.mit.edu 37 1 241912881 241912881 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:241912881C>A uc001hzf.1 + 8 910 c.757C>A c.(757-759)CAG>AAG p.Q253K WDR64_uc001hzg.1_5'UTR NM_144625 NP_653226 B1ANS9 WDR64_HUMAN WD repeat domain 64 533 WD 7. skin(1) 1 Ovarian(103;0.103) all_cancers(173;0.0121) OV - Ovarian serous cystadenocarcinoma(106;0.0116) TGGCAGTGGGCAGGAGATGAA 0.493 NA 35 62 3.62531e-18 6.28117e-18 0.004289 1 0 PLD5 200150 broad.mit.edu 37 1 242511458 242511458 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:242511458C>T uc001hzn.1 - 2 403 c.276G>A c.(274-276)ATG>ATA p.M92I PLD5_uc001hzl.3_Missense_Mutation_p.M30I|PLD5_uc001hzm.3_5'UTR|PLD5_uc001hzo.1_5'UTR Q8N7P1 PLD5_HUMAN RecName: Full=Inactive phospholipase D5; Short=Inactive PLD 5; AltName: Full=Inactive choline phosphatase 5; AltName: Full=Inactive phosphatidylcholine-hydrolyzing phospholipase D5; AltName: Full=PLDc; 92 integral to membrane catalytic activity ovary(6) 6 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) CATCCTCTCCCATGATGTCCA 0.458 NA 47 67 0 0 0.00361 0 0 OR2W3 343171 broad.mit.edu 37 1 248059128 248059128 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248059128G>A uc001idp.1 + 3 509 c.240G>A c.(238-240)CAG>CAA p.Q80Q OR2W3_uc010pzb.1_Silent_p.Q80Q NM_001001957 NP_001001957 Q7Z3T1 OR2W3_HUMAN olfactory receptor, family 2, subfamily W, 80 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|breast(1)|pancreas(1) 3 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CCATCCCCCAGCTGCTCTACA 0.587 NA 29 174 0 0 0.00632 0 0 OR2L1P 26247 broad.mit.edu 37 1 248154045 248154045 + Missense_Mutation SNP C C T rs115826103 by1000genomes TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248154045C>T uc001idv.1 + 1 477 c.233C>T c.(232-234)ACG>ATG p.T78M OR2L13_uc001ids.2_Intron NR_002145 RecName: Full=Olfactory receptor 2L5; AltName: Full=Olfactory receptor OR1-53; 0 TGTGCTCACACGGTATATGCA 0.463 NA 49 67 0 0 0.00361 0 0 OR2L2 26246 broad.mit.edu 37 1 248202247 248202247 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248202247C>G uc001idw.2 + 1 774 c.678C>G c.(676-678)CGC>CGG p.R226R OR2L13_uc001ids.2_Intron NM_001004686 NP_001004686 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, 226 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTGTCTACCGCATGCACTCTG 0.483 NA 107 129 0 0 0.00361 0 0 OR2M5 127059 broad.mit.edu 37 1 248308862 248308862 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248308862C>G uc010pze.1 + 1 413 c.413C>G c.(412-414)CCC>CGC p.P138R NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 138 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) CTCATGAGACCCAAAATTTGT 0.458 NA 55 332 0 0 0.00361 0 0 OR14C36 127066 broad.mit.edu 37 1 248512288 248512288 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248512288A>T uc010pzl.1 + 1 212 c.212A>T c.(211-213)TAC>TTC p.Y71F NM_001001918 NP_001001918 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, 71 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 GATGCCTGCTACATTTCTGTT 0.488 NA 31 146 0 0 0.009535 0 0 OR14I1 401994 broad.mit.edu 37 1 248844746 248844746 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:248844746A>T uc001ieu.1 - 1 860 c.860T>A c.(859-861)ATA>AAA p.I287K NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 287 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAGACTATATATGATGGGATT 0.388 NA 10 67 0 0 0.008291 0 0 AKR1C4 1109 broad.mit.edu 37 10 5258743 5258743 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:5258743G>A uc001ihw.2 + 8 949 c.916G>A c.(916-918)GTT>ATT p.V306I NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 306 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) TTATCGATATGTTGTCATGGA 0.348 NA 3 12 0 0 0.004672 0 0 C10orf18 54906 broad.mit.edu 37 10 5791121 5791121 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:5791121G>C uc001iij.2 + 15 6362 c.5737G>C c.(5737-5739)GTC>CTC p.V1913L C10orf18_uc001iik.2_Missense_Mutation_p.V757L NM_017782 NP_060252 Q5VWN6 CJ018_HUMAN hypothetical protein LOC54906 1913 ovary(1)|central_nervous_system(1) 2 GCCGCCTTACGTCCAAATCCG 0.542 NA 12 30 0 0 0.010729 0 0 PRKCQ 5588 broad.mit.edu 37 10 6553016 6553016 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:6553016C>T uc001ijj.1 - 3 334 c.259G>A c.(259-261)GTG>ATG p.V87M PRKCQ_uc009xim.1_Missense_Mutation_p.V87M|PRKCQ_uc001iji.1_Missense_Mutation_p.V120M|PRKCQ_uc009xin.1_Missense_Mutation_p.V51M|PRKCQ_uc010qax.1_Translation_Start_Site NM_006257 NP_006248 Q04759 KPCT_HUMAN protein kinase C, theta 87 C2. axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway cytosol ATP binding|metal ion binding|protein binding|protein kinase C activity ovary(3)|lung(2)|large_intestine(1) 6 TAGAGCTCCACGGTGGTTTCA 0.483 Ovarian(50;572 1126 10530 25349 30594) NA 21 104 0 0 0.00278 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506637 37506637 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:37506637A>T uc001iza.1 + 33 3029 c.2930A>T c.(2929-2931)CAA>CTA p.Q977L NM_052997 NP_443723 Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1033 Potential. nucleus DNA binding|sequence-specific DNA binding transcription factor activity ovary(7)|breast(1)|skin(1) 9 ACTTTAAACCAAGAAGAAGAG 0.289 NA 9 28 0 0 0.006214 0 0 ANK3 288 broad.mit.edu 37 10 62149354 62149354 + Translation_Start_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:62149354C>A uc001jky.2 - 1 135 c.-57G>T c.(-59--55)GAGGA>GATGA ANK3_uc010qih.1_Intron|ANK3_uc001jkz.3_Intron|ANK3_uc001jlb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN ankyrin 3 isoform 1 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding skin(9)|ovary(6)|pancreas(2)|central_nervous_system(2) 19 AGGTGATATCCTCAGGCACCT 0.413 NA 7 36 0.00198382 0.00216101 0.001984 1 0 CDH23 64072 broad.mit.edu 37 10 73558329 73558329 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:73558329T>A uc001jrx.3 + 48 7425 c.7048T>A c.(7048-7050)TCG>ACG p.S2350T CDH23_uc001jsg.3_Missense_Mutation_p.S110T|CDH23_uc001jsh.3_Missense_Mutation_p.S110T|CDH23_uc001jsi.3_Missense_Mutation_p.S110T NM_022124 NP_071407 Q9H251 CAD23_HUMAN cadherin-like 23 isoform 1 precursor 2350 Cadherin 22.|Extracellular (Potential). calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding central_nervous_system(5)|large_intestine(4)|ovary(2) 11 GGAGGACTCCTCGGCAGGTAG 0.597 NA 9 22 0 0 0.004482 0 0 DYDC1 143241 broad.mit.edu 37 10 82111703 82111703 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:82111703T>C uc001kbx.2 - 4 368 c.203A>G c.(202-204)CAG>CGG p.Q68R DYDC1_uc001kby.1_Missense_Mutation_p.Q68R|DYDC1_uc009xsr.1_Missense_Mutation_p.Q68R|DYDC2_uc001kbz.1_Intron|DYDC2_uc001kca.1_Intron NM_138812 NP_620167 Q8WWB3 DYDC1_HUMAN DPY30 domain containing 1 68 0 Colorectal(32;0.229) CATCATTTCCTGCTCCATCAG 0.468 NA 31 96 0 0 0.005524 0 0 NRG3 10718 broad.mit.edu 37 10 84733574 84733574 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:84733574G>C uc001kco.2 + 7 1342 c.1315G>C c.(1315-1317)GCA>CCA p.A439P NRG3_uc010qlz.1_Missense_Mutation_p.A438P|NRG3_uc001kcp.2_Missense_Mutation_p.A218P|NRG3_uc001kcq.2_Missense_Mutation_p.A89P|NRG3_uc001kcr.2_Missense_Mutation_p.A89P NM_001010848 NP_001010848 P56975 NRG3_HUMAN neuregulin 3 isoform 1 439 Cytoplasmic (Potential). regulation of cell growth extracellular region|integral to plasma membrane growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity lung(5)|breast(1) 6 GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09) TCCTGTGACTGCATTGGAGAA 0.483 NA 24 51 0 0 0.003954 0 0 GRID1 2894 broad.mit.edu 37 10 87628790 87628790 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:87628790C>A uc001kdl.1 - 6 1029 c.928G>T c.(928-930)GAA>TAA p.E310* GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 310 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) AGGTAGCCTTCCTGGGGGTCG 0.577 NA Multiple Myeloma(13;0.14) 25 54 1.1804e-14 1.92705e-14 0.003954 1 0 MYOF 26509 broad.mit.edu 37 10 95116586 95116586 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:95116586T>C uc001kin.2 - 30 3263 c.3140A>G c.(3139-3141)GAC>GGC p.D1047G MYOF_uc001kio.2_Missense_Mutation_p.D1034G|MYOF_uc009xue.2_RNA NM_013451 NP_038479 Q9NZM1 MYOF_HUMAN myoferlin isoform a 1047 Cytoplasmic (Potential). blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding ovary(3)|breast(1) 4 GCCCTCTTGGTCTTGCAATTC 0.353 NA 9 23 0 0 0.008291 0 0 HPSE2 60495 broad.mit.edu 37 10 100481549 100481549 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:100481549A>G uc001kpn.1 - 5 881 c.821T>C c.(820-822)GTA>GCA p.V274A HPSE2_uc009xwc.1_Missense_Mutation_p.V264A|HPSE2_uc001kpo.1_Missense_Mutation_p.V206A|HPSE2_uc009xwd.1_Missense_Mutation_p.V152A NM_021828 NP_068600 Q8WWQ2 HPSE2_HUMAN heparanase 2 274 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity ovary(1) 1 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) GCTGCCATTTACTGCCCGGCC 0.468 NA 11 42 0 0 0.001368 0 0 C10orf26 54838 broad.mit.edu 37 10 104572996 104572996 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:104572996C>A uc001kwe.3 + 4 1197 c.937C>A c.(937-939)CCG>ACG p.P313T C10orf26_uc001kwf.3_Missense_Mutation_p.P334T|C10orf26_uc009xxg.1_Intron NM_017787 NP_060257 Q9NX94 OPA1L_HUMAN hypothetical protein LOC54838 isoform 2 313 integral to membrane central_nervous_system(1) 1 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;6.14e-09)|all cancers(201;1.66e-07)|BRCA - Breast invasive adenocarcinoma(275;0.224) GCCTGGGCACCCGCACCTGCC 0.662 NA 18 63 1.99824e-07 2.62216e-07 0.00499 1 0 PWWP2B 170394 broad.mit.edu 37 10 134219612 134219612 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:134219612G>T uc001lll.3 + 2 1637 c.1608G>T c.(1606-1608)ACG>ACT p.T536T PWWP2B_uc009ybe.2_Intron NM_138499 NP_612508 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2 isoform 1 536 PWWP. 0 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CTCCGACTACGTCGTTCTTGT 0.498 NA 35 54 7.11191e-15 1.16718e-14 0.002836 1 0 MTG1 92170 broad.mit.edu 37 10 135209744 135209744 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr10:135209744G>T uc001lnd.2 + 3 359 c.255G>T c.(253-255)ATG>ATT p.M85I MTG1_uc010qve.1_Missense_Mutation_p.M1I NM_138384 NP_612393 Q9BT17 MTG1_HUMAN GTP_binding protein precursor 85 GTP (By similarity). mitochondrion GTP binding|protein binding skin(1) 1 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) OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06) TCAACAAGATGGACTTGGCGG 0.498 NA 48 78 1.02687e-29 1.92383e-29 0.013114 1 0 MUC6 4588 broad.mit.edu 37 11 1025222 1025222 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1025222C>T uc001lsw.2 - 23 2996 c.2945G>A c.(2944-2946)AGG>AAG p.R982K NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 982 VWFD 3. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTCATGTGCCTGTTCCAGAT 0.657 NA 61 153 0 0 0.00361 0 0 BRSK2 9024 broad.mit.edu 37 11 1466580 1466580 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1466580G>A uc001lti.2 + 10 1255 c.869G>A c.(868-870)CGC>CAC p.R290H BRSK2_uc009ycv.1_Missense_Mutation_p.R290H|BRSK2_uc001lth.1_Missense_Mutation_p.R290H|BRSK2_uc001ltj.2_Missense_Mutation_p.R290H|BRSK2_uc001ltk.2_RNA|BRSK2_uc001ltl.2_Missense_Mutation_p.R290H|BRSK2_uc001ltm.2_Missense_Mutation_p.R336H|BRSK2_uc001ltn.2_RNA|BRSK2_uc010qwx.1_RNA NM_003957 NP_003948 Q8IWQ3 BRSK2_HUMAN BR serine/threonine kinase 2 290 establishment of cell polarity|neuron differentiation ATP binding|magnesium ion binding|protein serine/threonine kinase activity 0 all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842) GTGCAGATCCGCTCGCTGCCC 0.657 NA 6 48 0 0 0.001984 0 0 TNNT3 7140 broad.mit.edu 37 11 1955808 1955808 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:1955808C>A uc001luu.3 + 13 725 c.513C>A c.(511-513)GCC>GCA p.A171A TNNT3_uc001lun.2_Silent_p.A67A|TNNT3_uc001luw.3_Silent_p.A163A|TNNT3_uc001luo.3_Silent_p.A163A|TNNT3_uc001lup.3_Silent_p.A169A|TNNT3_uc001luq.3_Silent_p.A163A|TNNT3_uc001lur.2_Silent_p.A163A|TNNT3_uc010qxf.1_Silent_p.A169A|TNNT3_uc010qxg.1_Silent_p.A103A NM_006757 NP_006748 P45378 TNNT3_HUMAN troponin T3, skeletal, fast isoform 1 182 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding ovary(1) 1 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) AGCAGACAGCCCGGGAAATGA 0.587 NA 6 11 0.00116845 0.0012886 0.001168 1 0 OR51A4 401666 broad.mit.edu 37 11 4967808 4967809 + Missense_Mutation DNP GG GG TT TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:4967808_4967809GG>TT uc010qys.1 - 1 522_523 c.522_523CC>AA c.(520-525)AACCAA>AAAAAA p.174_175NQ>KK NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 174_175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TGGGATAATTGGTTTTTCTTGC 0.416 NA 41 247 0 0 0.004672 0 0 OR51A4 401666 broad.mit.edu 37 11 4968008 4968009 + Missense_Mutation DNP CC CC AA TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:4968008_4968009CC>AA uc010qys.1 - 1 322_323 c.322_323GG>TT c.(322-324)GGA>TTA p.G108L NM_001005329 NP_001005329 Q8NGJ6 O51A4_HUMAN olfactory receptor, family 51, subfamily A, 108 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) TACTGAGAATCCATGAATGAAG 0.441 NA 35 336 0 0 0.004672 0 0 OR51B5 282763 broad.mit.edu 37 11 5364119 5364119 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5364119G>A uc001map.1 - 1 636 c.636C>T c.(634-636)ATC>ATT p.I212I HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron NM_001005567 NP_001005567 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, 212 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGAGATGAAGATAATCAGAT 0.468 NA 13 108 0 0 0.001368 0 0 OR52N4 390072 broad.mit.edu 37 11 5776415 5776415 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5776415G>C uc001mbu.2 + 1 493 c.445G>C c.(445-447)GCC>CCC p.A149P TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron NM_001005175 NP_001005175 Q8NGI2 O52N4_HUMAN olfactory receptor, family 52, subfamily N, 149 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197) GGTTGGGACTGCCACCTTCCT 0.488 NA 44 107 0 0 0.009718 0 0 OR56A3 390083 broad.mit.edu 37 11 5968677 5968677 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5968677C>A uc010qzt.1 + 1 101 c.101C>A c.(100-102)CCC>CAC p.P34H NM_001003443 NP_001003443 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, 34 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGTCCCTGCCCCTCAGCCTC 0.572 NA 62 71 3.76628e-20 6.79023e-20 0.00361 1 0 DCHS1 8642 broad.mit.edu 37 11 6648047 6648047 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:6648047C>A uc001mem.1 - 14 6633 c.6223G>T c.(6223-6225)GCT>TCT p.A2075S NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 2075 Cadherin 20.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CGAATCGTAGCCTCACTGCTA 0.587 NA 5 34 3.59834e-05 4.22295e-05 0.001168 1 0 DCHS1 8642 broad.mit.edu 37 11 6662271 6662271 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:6662271G>T uc001mem.1 - 2 984 c.574C>A c.(574-576)CGG>AGG p.R192R NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN dachsous 1 precursor 192 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|large_intestine(1)|pancreas(1) 5 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCTCCAGCCGGAAGGTCTCT 0.607 NA 37 80 8.73648e-17 1.48472e-16 0.004289 1 0 OR10A4 283297 broad.mit.edu 37 11 6898303 6898303 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:6898303G>T uc010rat.1 + 1 425 c.425G>T c.(424-426)TGT>TTT p.C142F NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 142 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CACATATCCTGTGCCCAGCTG 0.572 NA 23 78 1.87028e-06 2.33597e-06 0.012319 1 0 CTR9 9646 broad.mit.edu 37 11 10791812 10791812 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:10791812A>G uc001mja.2 + 17 2314 c.2165A>G c.(2164-2166)TAT>TGT p.Y722C NM_014633 NP_055448 Q6PD62 CTR9_HUMAN SH2 domain binding protein 1 722 TPR 16. histone H2B ubiquitination|histone monoubiquitination Cdc73/Paf1 complex|nuclear speck ovary(2) 2 all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111) GTTGTACTCTATTTGGCCCGG 0.378 NA 11 59 0 0 0.010729 0 0 INSC 387755 broad.mit.edu 37 11 15267485 15267485 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:15267485T>C uc001mly.2 + 13 1685 c.1639T>C c.(1639-1641)TGC>CGC p.C547R INSC_uc001mlz.2_Missense_Mutation_p.C500R|INSC_uc001mma.2_3'UTR|INSC_uc010rcs.1_Missense_Mutation_p.C535R|INSC_uc001mmb.2_Missense_Mutation_p.C500R|INSC_uc001mmc.2_Missense_Mutation_p.C458R NM_001031853 NP_001027024 Q1MX18 INSC_HUMAN inscuteable isoform a 547 cell differentiation|nervous system development cytoplasm binding upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1) 5 GGCTGGGGTCTGCCCTGAAGG 0.547 NA 26 102 0 0 0.003954 0 0 ABCC8 6833 broad.mit.edu 37 11 17419927 17419927 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:17419927G>A uc001mnc.2 - 30 3838 c.3712C>T c.(3712-3714)CTC>TTC p.L1238F NM_000352 NP_000343 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C, member 8 1238 ABC transmembrane type-1 2.|Cytoplasmic (By similarity). carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity ovary(1) 1 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GTGAGGAAGAGGGAAGCAATG 0.552 NA 5 74 0 0 0.001984 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159074 18159075 + Missense_Mutation DNP GG GG TT TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:18159074_18159075GG>TT uc001mnu.2 + 3 686_687 c.325_326GG>TT c.(325-327)GGC>TTC p.G109F NM_054031 NP_473372 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 109 Helical; Name=3; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(1)|pancreas(1) 2 CTACTTTATAGGCCTAAGCATG 0.55 NA 35 160 0 0 0.004672 0 0 LDHA 3939 broad.mit.edu 37 11 18421090 18421090 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:18421090G>T uc001mok.3 + 3 511 c.239G>T c.(238-240)GGC>GTC p.G80V LDHA_uc010rdc.1_Missense_Mutation_p.G80V|LDHA_uc009yhn.2_Missense_Mutation_p.G80V|LDHA_uc009yho.2_Intron|LDHA_uc001mol.3_Missense_Mutation_p.G80V|LDHA_uc010rdd.1_Missense_Mutation_p.G109V NM_005566 NP_005557 P00338 LDHA_HUMAN lactate dehydrogenase A isoform 1 80 glycolysis|pyruvate metabolic process cytosol L-lactate dehydrogenase activity|protein binding central_nervous_system(3) 3 NADH(DB00157) ATTGTCTCTGGCAAAGGTTGA 0.284 NA 11 55 3.07112e-06 3.79015e-06 0.010729 1 0 MRGPRX2 117194 broad.mit.edu 37 11 19077263 19077263 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:19077263C>A uc001mph.2 - 2 775 c.687G>T c.(685-687)GTG>GTT p.V229V NM_054030 NP_473371 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 229 Helical; Name=6; (Potential). sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding ovary(1) 1 GGAACACCAGCACTGTGAGCA 0.532 GBM(198;1966 2199 4849 37227 49954) NA 25 45 1.85244e-09 2.6427e-09 0.00333 1 0 SLC17A6 57084 broad.mit.edu 37 11 22397583 22397583 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:22397583G>T uc001mqk.2 + 10 1643 c.1230G>T c.(1228-1230)GGG>GGT p.G410G NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (sodium-dependent 410 Helical; (Potential). sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3)|breast(1) 4 ATACTAGAGGGGTAGCAATCT 0.373 NA 7 220 2.74318e-10 4.02419e-10 0.006214 1 0 ANO3 63982 broad.mit.edu 37 11 26463584 26463584 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:26463584C>A uc001mqt.3 + 2 311 c.166C>A c.(166-168)CTC>ATC p.L56I ANO3_uc010rdr.1_Missense_Mutation_p.L40I NM_031418 NP_113606 Q9BYT9 ANO3_HUMAN transmembrane protein 16C 56 Cytoplasmic (Potential). chloride channel complex chloride channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 GTCTACTTCCCTCTTCCAGTC 0.473 NA 47 159 7.77372e-23 1.42213e-22 0.00361 1 0 KCNA4 3739 broad.mit.edu 37 11 30034191 30034191 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:30034191C>A uc001msk.2 - 2 1187 c.35G>T c.(34-36)GGG>GTG p.G12V NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 12 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 ACTGTTGCACCCTGAGCTCTC 0.562 NA 41 134 1.04594e-18 1.8326e-18 0.00623 1 0 DCDC1 341019 broad.mit.edu 37 11 31312234 31312234 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:31312234T>A uc001msv.2 - 7 1122 c.920A>T c.(919-921)GAT>GTT p.D307V DCDC1_uc001msu.1_Intron NM_181807 NP_861523 P59894 DCDC1_HUMAN doublecortin domain containing 1 307 intracellular signal transduction skin(1) 1 Lung SC(675;0.225) CTCATGCCCATCCTGCCCCAT 0.343 NA 9 49 0 0 0.006214 0 0 C11orf41 25758 broad.mit.edu 37 11 33566805 33566805 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:33566805C>A uc001mup.3 + 2 2517 c.2393C>A c.(2392-2394)CCA>CAA p.P798Q C11orf41_uc001mun.1_Missense_Mutation_p.P798Q NM_012194 NP_036326 Q6ZVL6 CK041_HUMAN hypothetical protein LOC25758 792 integral to membrane ovary(2) 2 CGGTTGCCACCATTGCGAGCA 0.582 NA 29 75 2.48779e-11 3.7377e-11 0.005443 1 0 TP53I11 9537 broad.mit.edu 37 11 44956479 44956479 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:44956479T>A uc001myi.2 - 10 1131 c.526A>T c.(526-528)ATT>TTT p.I176F TP53I11_uc001myf.1_Intron|TP53I11_uc001myj.2_Missense_Mutation_p.I176F|TP53I11_uc001myk.2_Missense_Mutation_p.I176F|TP53I11_uc001myl.2_Missense_Mutation_p.I176F|TP53I11_uc001mym.2_Missense_Mutation_p.I123F NM_006034 NP_006025 O14683 P5I11_HUMAN p53-induced protein 176 Helical; (Potential). negative regulation of cell proliferation|response to stress integral to membrane p.I176M(1) ovary(1) 1 TAGTAGTAAATGCTGATGACG 0.627 NA 26 67 0 0 0.00333 0 0 CHRM4 1132 broad.mit.edu 37 11 46406886 46406886 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:46406886C>A uc001nct.1 - 1 1222 c.1222G>T c.(1222-1224)GCC>TCC p.A408S NM_000741 NP_000732 P08173 ACM4_HUMAN cholinergic receptor, muscarinic 4 408 Helical; Name=6; (By similarity). cell proliferation cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity 0 GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14) Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809) AGGATGAAGGCTAGCAGAATG 0.597 Esophageal Squamous(171;1020 1936 4566 30205 42542) NA 17 29 3.45872e-05 4.08997e-05 0.004007 1 0 OR4C46 119749 broad.mit.edu 37 11 51515557 51515557 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:51515557C>A uc010ric.1 + 1 276 c.276C>A c.(274-276)TTC>TTA p.F92L NM_001004703 NP_001004703 A6NHA9 O4C46_HUMAN olfactory receptor, family 4, subfamily C, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CCATCCTATTCAATGGATGCA 0.463 NA 52 122 1.51926e-22 2.77119e-22 0.00361 1 0 OR4C15 81309 broad.mit.edu 37 11 55322784 55322784 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55322784G>T uc010rig.1 + 1 1002 c.1002G>T c.(1000-1002)TTG>TTT p.L334F NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 280 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TAAATCCCTTGCTCAATCCTT 0.363 NA HNSCC(20;0.049) 22 87 3.62473e-10 5.26772e-10 0.012319 1 0 OR5D14 219436 broad.mit.edu 37 11 55563449 55563449 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55563449C>A uc010rim.1 + 1 418 c.418C>A c.(418-420)CAG>AAG p.Q140K NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, 140 Cytoplasmic (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) GGCCATGTCACAGAGGCTCTG 0.537 NA 19 86 1.67942e-08 2.30087e-08 0.006122 1 0 OR10AG1 282770 broad.mit.edu 37 11 55735071 55735071 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55735071A>T uc010rit.1 - 1 869 c.869T>A c.(868-870)GTG>GAG p.V290E NM_001005491 NP_001005491 Q8NH19 O10AG_HUMAN olfactory receptor, family 10, subfamily AG, 290 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Esophageal squamous(21;0.0137) TCTCAATGCCACCATGATATC 0.328 NA 7 37 0 0 0.006214 0 0 OR5J2 282775 broad.mit.edu 37 11 55944484 55944484 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:55944484C>A uc010rjb.1 + 1 391 c.391C>A c.(391-393)CTT>ATT p.L131I NM_001005492 NP_001005492 Q8NH18 OR5J2_HUMAN olfactory receptor, family 5, subfamily J, 131 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|large_intestine(1)|breast(1)|pancreas(1) 4 Esophageal squamous(21;0.00693) GAGTCCCTTGCTTTACACTGT 0.453 NA 19 65 1.00905e-13 1.6176e-13 0.008871 1 0 OR6Q1 219952 broad.mit.edu 37 11 57798435 57798435 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:57798435A>T uc010rjz.1 + 1 11 c.11A>T c.(10-12)TAT>TTT p.Y4F OR9Q1_uc001nmj.2_Intron NM_001005186 NP_001005186 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, 4 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1) 1 Breast(21;0.0707)|all_epithelial(135;0.142) ATGCAACCATATACCAAAAAC 0.448 NA 35 113 0 0 0.003271 0 0 SYT7 9066 broad.mit.edu 37 11 61295448 61295448 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:61295448C>T uc001nrv.2 - 5 567 c.561G>A c.(559-561)CTG>CTA p.L187L SYT7_uc009ynr.2_Silent_p.L262L NM_004200 NP_004191 O43581 SYT7_HUMAN synaptotagmin VII 187 C2 1.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity ovary(3)|pancreas(1) 4 CCTTGGTCTCCAGCTTGTGCT 0.582 NA 9 91 0 0 0.004482 0 0 ASRGL1 80150 broad.mit.edu 37 11 62123819 62123819 + Silent SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:62123819A>G uc001nte.3 + 3 497 c.213A>G c.(211-213)ACA>ACG p.T71T ASRGL1_uc001ntf.3_Silent_p.T71T|ASRGL1_uc001ntg.3_Intron|ASRGL1_uc001nth.1_5'Flank NM_025080 NP_079356 Q7L266 ASGL1_HUMAN asparaginase-like 1 71 asparagine catabolic process via L-aspartate|protein maturation cytoplasm|microtubule cytoskeleton|nucleus N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity 0 L-Asparagine(DB00174)|L-Aspartic Acid(DB00128) TCTTGAACACAAATGGTGAGG 0.328 NA 32 67 0 0 0.012213 0 0 SLC22A8 9376 broad.mit.edu 37 11 62782359 62782359 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:62782359C>A uc001nwo.2 - 2 208 c.72G>T c.(70-72)CTG>CTT p.L24L SLC22A8_uc001nwp.2_Silent_p.L24L|SLC22A8_uc009yom.2_Intron|SLC22A8_uc010rmm.1_Intron|SLC22A8_uc009yon.2_Silent_p.L24L NM_004254 NP_004245 Q8TCC7 S22A8_HUMAN solute carrier family 22 member 8 24 Helical; (Potential). response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity skin(2)|ovary(1) 3 TCGGGAGGCCCAGTATGGCTA 0.607 NA 5 170 3.59834e-05 4.22295e-05 0.001168 1 0 SART1 9092 broad.mit.edu 37 11 65733831 65733831 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:65733831G>T uc001ogl.2 + 9 1084 c.992G>T c.(991-993)CGC>CTC p.R331L SART1_uc010rot.1_Missense_Mutation_p.A217S NM_005146 NP_005137 O43290 SNUT1_HUMAN squamous cell carcinoma antigen recognized by T 331 cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly Cajal body|catalytic step 2 spliceosome|cytosol ovary(1) 1 CAAAAACCTCGCTCTATCCTG 0.607 NA 24 35 1.55469e-16 2.63493e-16 0.00333 1 0 ZDHHC24 254359 broad.mit.edu 37 11 66311271 66311271 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:66311271C>T uc001oin.1 - 2 660 c.463G>A c.(463-465)GTG>ATG p.V155M ACTN3_uc010rpi.1_5'Flank|ZDHHC24_uc001oim.1_RNA|ZDHHC24_uc009yrg.1_Missense_Mutation_p.V155M NM_207340 NP_997223 Q6UX98 ZDH24_HUMAN zinc finger, DHHC-type containing 24 155 Leu-rich.|Helical; (Potential). integral to membrane acyltransferase activity|zinc ion binding 0 CCCAGCAGCACAGAGACGTGG 0.692 NA OREG0021110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 26 0 0 0.009096 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67059113 67059113 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:67059113G>T uc001okc.1 + 6 687 c.176G>T c.(175-177)CGC>CTC p.R59L ANKRD13D_uc001okd.1_Missense_Mutation_p.R146L|ANKRD13D_uc001oke.1_Missense_Mutation_p.R59L NM_207354 NP_997237 Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 59 ovary(1) 1 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GATGTGTACCGCGTGTGGAAG 0.622 NA 22 57 1.10513e-12 1.72712e-12 0.002299 1 0 KRTAP5-11 440051 broad.mit.edu 37 11 71293801 71293801 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:71293801C>G uc001oqu.2 - 1 121 c.83G>C c.(82-84)TGT>TCT p.C28S NM_001005405 NP_001005405 Q6L8G4 KR511_HUMAN keratin associated protein 5-11 28 keratin filament 0 ACAGCCCCCACAGCCAGAGCC 0.647 NA 5 142 0 0 0.000602 0 0 TSKU 25987 broad.mit.edu 37 11 76506887 76506887 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:76506887C>T uc001oxt.2 + 2 399 c.227C>T c.(226-228)TCG>TTG p.S76L NM_015516 NP_056331 Q8WUA8 TSK_HUMAN tsukushin precursor 76 LRR 1. extracellular region 0 Ovarian(111;0.112) GTGAATGAGTCGGTGTTGGCG 0.637 NA 16 53 0 0 0.004007 0 0 CAPN5 726 broad.mit.edu 37 11 76833670 76833670 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:76833670C>A uc001oxx.2 + 12 1837 c.1652C>A c.(1651-1653)TCG>TAG p.S551* CAPN5_uc009yup.2_Nonsense_Mutation_p.S591*|CAPN5_uc009yuq.2_Nonsense_Mutation_p.S587*|CAPN5_uc001oxy.2_Nonsense_Mutation_p.S591*|CAPN5_uc001oya.2_Nonsense_Mutation_p.S113* NM_004055 NP_004046 O15484 CAN5_HUMAN calpain 5 551 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity 0 AAAGTCCGCTCGGCTGTGCAG 0.453 NA 21 39 8.10497e-08 1.07951e-07 0.010504 1 0 PCF11 51585 broad.mit.edu 37 11 82868580 82868580 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:82868580C>A uc001ozx.3 + 1 444 c.99C>A c.(97-99)AGC>AGA p.S33R PCF11_uc010rsu.1_Missense_Mutation_p.S33R|PCF11_uc001ozy.2_Missense_Mutation_p.S33R NM_015885 NP_056969 O94913 PCF11_HUMAN pre-mRNA cleavage complex II protein Pcf11 33 CID. mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex ovary(1) 1 CCTTCAATAGCAAGCCGCACA 0.587 NA 11 96 4.68919e-08 6.29952e-08 0.008291 1 0 KIAA1377 57562 broad.mit.edu 37 11 101833442 101833442 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:101833442A>G uc001pgm.2 + 6 1946 c.1676A>G c.(1675-1677)CAT>CGT p.H559R KIAA1377_uc001pgn.2_Missense_Mutation_p.H515R|KIAA1377_uc010run.1_Missense_Mutation_p.H360R|KIAA1377_uc009yxa.1_Missense_Mutation_p.H360R NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 559 protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GTTGGCCAGCATAAGAAAATG 0.294 NA 10 26 0 0 0.006214 0 0 DYNC2H1 79659 broad.mit.edu 37 11 103182692 103182692 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:103182692G>T uc001pho.2 + 79 11723 c.11579G>T c.(11578-11580)CGA>CTA p.R3860L DYNC2H1_uc001phn.1_Missense_Mutation_p.R3867L|DYNC2H1_uc009yxe.1_Intron NM_001080463 NP_001073932 Q8NCM8 DYHC2_HUMAN dynein, cytoplasmic 2, heavy chain 1 3860 AAA 6 (By similarity). cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane ATP binding|ATPase activity|microtubule motor activity p.R1300Q(3) 0 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348) BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785) AATACACATCGAGCTCATGCT 0.358 NA 8 38 0.000274275 0.000308498 0.004482 1 0 ANKK1 255239 broad.mit.edu 37 11 113264300 113264300 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:113264300G>T uc001pny.2 + 2 377 c.283G>T c.(283-285)GGT>TGT p.G95C NM_178510 NP_848605 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 95 Protein kinase. ATP binding|protein serine/threonine kinase activity lung(5)|stomach(1)|ovary(1)|breast(1) 8 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) GCAGCCCCTGGGTATTGTGAT 0.512 NA 10 33 7.48243e-07 9.55661e-07 0.006214 1 0 PVRL1 5818 broad.mit.edu 37 11 119548513 119548513 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:119548513C>A uc001pwv.2 - 3 657 c.485G>T c.(484-486)GGG>GTG p.G162V PVRL1_uc001pwu.1_Missense_Mutation_p.G162V|PVRL1_uc001pww.2_Missense_Mutation_p.G162V NM_002855 NP_002846 Q15223 PVRL1_HUMAN poliovirus receptor-related 1 isoform 1 162 Extracellular (Potential).|Ig-like C2-type 1. adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response cell-cell adherens junction|extracellular region|integral to membrane cell adhesion molecule binding|coreceptor activity|protein homodimerization activity 0 Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.29e-05) GTCATCCTGCCCCTTCTTGGC 0.562 NA 13 30 1.49906e-05 1.80003e-05 0.00245 1 0 ADAMTS15 170689 broad.mit.edu 37 11 130319110 130319110 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:130319110C>T uc010scd.1 + 1 242 c.242C>T c.(241-243)ACT>ATT p.T81I NM_139055 NP_620686 Q8TE58 ATS15_HUMAN a disintegrin-like and metalloprotease 81 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(2)|pancreas(1)|lung(1)|skin(1) 5 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) GCCTTCTCCACTGAGCATCTG 0.597 NA 29 76 0 0 0.007291 0 0 A2M 2 broad.mit.edu 37 12 9230301 9230301 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:9230301A>G uc001qvk.1 - 26 3385 c.3272T>C c.(3271-3273)ATA>ACA p.I1091T A2M_uc001qvj.1_Missense_Mutation_p.I133T|A2M_uc009zgk.1_Missense_Mutation_p.I941T NM_000014 NP_000005 P01023 A2MG_HUMAN alpha-2-macroglobulin precursor 1091 blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding central_nervous_system(4)|skin(1) 5 Bacitracin(DB00626)|Becaplermin(DB00102) ATTCACCTTTATGGCATTGTT 0.438 NA 12 60 0 0 0.00245 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21358833 21358833 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:21358833C>A uc001req.3 + 11 1467 c.1363C>A c.(1363-1365)CCA>ACA p.P455T NM_006446 NP_006437 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, 455 Extracellular (Potential).|Kazal-like. bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity ovary(3)|skin(3)|pancreas(1)|central_nervous_system(1) 8 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TAGAGATGTACCACTTTCTTA 0.299 NA 18 42 2.4624e-09 3.48093e-09 0.008871 1 0 KRAS 3845 broad.mit.edu 37 12 25398284 25398284 + Missense_Mutation SNP C C A rs121913529 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:25398284C>A uc001rgp.1 - 2 216 c.35G>T c.(34-36)GGT>GTT p.G12V KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.2_RNA NM_033360 NP_203524 P01116 RASK_HUMAN c-K-ras2 protein isoform a precursor 12 GTP. G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12D(7175)|p.G12V(4780)|p.G12C(2482)|p.G12A(1180)|p.G12S(1119)|p.G12R(691)|p.G12?(50)|p.G12F(34)|p.G12N(6)|p.G12G(6)|p.G12L(5)|p.G12I(4)|p.G12_G13insG(4)|p.G12E(3)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12fs*3(1) large_intestine(12391)|pancreas(3285)|lung(2847)|biliary_tract(521)|ovary(443)|endometrium(339)|haematopoietic_and_lymphoid_tissue(318)|stomach(203)|thyroid(149)|prostate(85)|soft_tissue(77)|small_intestine(62)|upper_aerodigestive_tract(59)|cervix(49)|urinary_tract(48)|skin(38)|liver(31)|breast(28)|testis(17)|oesophagus(15)|central_nervous_system(9)|peritoneum(6)|salivary_gland(6)|kidney(5)|gastrointestinal_tract_(site_indeterminate)(5)|thymus(5)|eye(4)|autonomic_ganglia(2)|bone(2)|genital_tract(1)|penis(1)|adrenal_gland(1) 21052 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) GCCTACGCCACCAGCTCCAAC 0.348 Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869) G12D(HPAC_PANCREAS)|G12V(SW403_LARGE_INTESTINE)|G12D(HPAFII_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(NCIH441_LUNG)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(PK1_PANCREAS)|G12V(KP3_PANCREAS)|G12D(PANC0813_PANCREAS)|G12A(SW1116_LARGE_INTESTINE)|G12D(LS180_LARGE_INTESTINE)|G12V(NCIH727_LUNG)|G12V(PATU8988S_PANCREAS)|G12V(CAPAN2_PANCREAS)|G12D(KP4_PANCREAS)|G12D(LS513_LARGE_INTESTINE)|G12D(SNUC2A_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(COLO668_LUNG)|G12D(COLO678_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12D(PANC0203_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(SW900_LUNG)|G12V(LCLC97TM1_LUNG)|G12V(SW620_LARGE_INTESTINE)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(SH10TC_STOMACH)|G12V(A498_KIDNEY)|G12D(PK59_PANCREAS)|G12D(HEC1A_ENDOMETRIUM)|G12D(PANC0504_PANCREAS)|G12V(SNGM_ENDOMETRIUM)|G12A(RERFLCAD1_LUNG)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12D(ASPC1_PANCREAS)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12V(RCM1_LARGE_INTESTINE)|G12V(CORL23_LUNG)|G12D(SW1990_PANCREAS)|G12D(HEYA8_OVARY)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12V(HUPT4_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC50B_ENDOMETRIUM)|G12V(YAPC_PANCREAS)|G12V(NCIH2444_LUNG)|G12V(HCC56_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12V(DANG_PANCREAS)|G12V(SHP77_LUNG)|G12D(AGS_STOMACH)|G12D(SKLU1_LUNG)|G12V(QGP1_PANCREAS)|G12D(L33_PANCREAS)|G12V(PANC0327_PANCREAS)|G12D(PANC1_PANCREAS)|G12V(RKN_OVARY)|G12V(PATU8902_PANCREAS) 119 Mis pancreatic|colorectal|lung|thyroid|AML|others Cardiofaciocutaneous_syndrome|Noonan_syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 7 20 3.09899e-07 3.99083e-07 0.004482 1 0 FAR2 55711 broad.mit.edu 37 12 29464033 29464033 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:29464033G>C uc001ris.3 + 7 988 c.841G>C c.(841-843)GTC>CTC p.V281L FAR2_uc001rit.2_Missense_Mutation_p.V281L|FAR2_uc009zjm.2_Missense_Mutation_p.V184L|uc001riu.1_Intron NM_018099 NP_060569 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 281 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 AGTTGATACAGTCGTCAATCT 0.438 NA 33 133 0 0 0.003271 0 0 ABCD2 225 broad.mit.edu 37 12 40013091 40013091 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:40013091C>A uc001rmb.2 - 1 753 c.327G>T c.(325-327)CTG>CTT p.L109L NM_005164 NP_005155 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D, member 2 109 ABC transmembrane type-1.|Interaction with PEX19.|Helical; (Potential). fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|central_nervous_system(1)|skin(1) 6 CCACTGAGTGCAGGCAGAGCC 0.438 NA 13 47 0.00136819 0.00150356 0.001368 1 0 PRPF40B 25766 broad.mit.edu 37 12 50029645 50029645 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:50029645G>T uc001rur.1 + 14 1293 c.1229G>T c.(1228-1230)CGG>CTG p.R410L PRPF40B_uc001rup.1_Missense_Mutation_p.R432L|PRPF40B_uc001ruq.1_Missense_Mutation_p.R404L|PRPF40B_uc001rus.1_Missense_Mutation_p.R353L NM_001031698 NP_001026868 Q6NWY9 PR40B_HUMAN Huntingtin interacting protein C isoform 1 410 mRNA processing|RNA splicing nuclear speck skin(2)|ovary(1)|pancreas(1)|kidney(1) 5 AAGCAGCTCCGGCGCCGCAAT 0.597 NA 14 26 9.31168e-06 1.13566e-05 0.001855 1 0 OR6C3 254786 broad.mit.edu 37 12 55725826 55725826 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:55725826C>A uc010spj.1 + 1 342 c.342C>A c.(340-342)GCC>GCA p.A114A NM_054104 NP_473445 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, 114 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTTTAACTGCCATGTCCTATG 0.423 NA 20 105 1.33834e-09 1.91367e-09 0.007413 1 0 GLS2 27165 broad.mit.edu 37 12 56867050 56867050 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:56867050G>T uc001slj.2 - 14 1690 c.1411C>A c.(1411-1413)CGG>AGG p.R471R GLS2_uc009zos.2_RNA|GLS2_uc001slk.2_Silent_p.R206R|GLS2_uc009zot.2_Silent_p.R132R NM_013267 NP_037399 Q9UI32 GLSL_HUMAN glutaminase 2 precursor 471 cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion mitochondrial matrix glutaminase activity|protein binding ovary(1)|central_nervous_system(1) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCTAACTTCCGAGCACAGTGC 0.363 NA 3 57 0.00909568 0.00963801 0.009096 1 0 SLC26A10 65012 broad.mit.edu 37 12 58018651 58018651 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:58018651C>G uc001spe.2 + 10 1541 c.1230C>G c.(1228-1230)CTC>CTG p.L410L SLC26A10_uc001spf.2_RNA|SLC26A10_uc009zpz.1_RNA NM_133489 NP_597996 Q8NG04 S2610_HUMAN solute carrier family 26, member 10 410 STAS. integral to membrane antiporter activity large_intestine(1)|central_nervous_system(1) 2 Melanoma(17;0.122) CCTCTTAGCTCCTCCAGGTCC 0.587 NA 21 85 0 0 0.002299 0 0 TSPAN31 6302 broad.mit.edu 37 12 58139966 58139966 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:58139966T>A uc001spt.2 + 3 393 c.239T>A c.(238-240)ATC>AAC p.I80N TSPAN31_uc009zqb.2_Intron|TSPAN31_uc010ssa.1_Missense_Mutation_p.I2N NM_005981 NP_005972 Q12999 TSN31_HUMAN sarcoma amplified sequence 80 Helical; (Potential). positive regulation of cell proliferation integral to plasma membrane|membrane fraction 0 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) CAGTACATGATCATCCTTGGT 0.373 NA 9 55 0 0 0.001368 0 0 SLC16A7 9194 broad.mit.edu 37 12 60168655 60168655 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:60168655C>G uc001sqs.2 + 5 878 c.579C>G c.(577-579)TCC>TCG p.S193S SLC16A7_uc001sqt.2_Silent_p.S193S|SLC16A7_uc001squ.2_Silent_p.S193S|SLC16A7_uc009zqi.2_Silent_p.S94S|SLC16A7_uc010ssi.1_Silent_p.S94S NM_004731 NP_004722 O60669 MOT2_HUMAN solute carrier family 16, member 7 193 Helical; (Potential). integral to plasma membrane|membrane fraction pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity ovary(1) 1 GBM - Glioblastoma multiforme(3;0.0303) Pyruvic acid(DB00119) TGGCTGGTTCCCTCATGAGAC 0.408 NA 5 30 0 0 0.001168 0 0 LUM 4060 broad.mit.edu 37 12 91502264 91502264 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:91502264G>T uc001tbm.2 - 2 882 c.493C>A c.(493-495)CAT>AAT p.H165N LUM_uc001tbn.2_Intron NM_002345 NP_002336 P51884 LUM_HUMAN lumican precursor 165 LRR 5. collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2) 2 TGCTGGAGATGGATGAAGGTC 0.453 NA 11 48 7.03913e-09 9.75131e-09 0.001368 1 0 TMCC3 57458 broad.mit.edu 37 12 94976286 94976286 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:94976286C>T uc001tdj.2 - 2 225 c.107G>A c.(106-108)AGC>AAC p.S36N TMCC3_uc001tdi.2_Missense_Mutation_p.S5N NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 36 integral to membrane ovary(1)|skin(1) 2 CAGGGGCAGGCTTAAGGTATT 0.458 NA 12 59 0 0 0.001855 0 0 SLC5A8 160728 broad.mit.edu 37 12 101598296 101598296 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:101598296G>A uc001thz.3 - 2 789 c.399C>T c.(397-399)GTC>GTT p.V133V NM_145913 NP_666018 Q8N695 SC5A8_HUMAN solute carrier family 5 (iodide transporter), 133 Helical; (Potential). apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity 0 CAATGAAGAGGACTGTTCCAC 0.333 GBM(60;420 1056 13605 22380 47675) NA 11 21 0 0 0.010729 0 0 CUX2 23316 broad.mit.edu 37 12 111785481 111785481 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:111785481C>A uc001tsa.1 + 22 3966 c.3813C>A c.(3811-3813)ACC>ACA p.T1271T NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1271 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 AGAAGCCAACCGTGAAGGAAC 0.617 NA 12 43 0.00010058 0.000115213 0.001368 1 0 DTX1 1840 broad.mit.edu 37 12 113534535 113534535 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:113534535A>T uc001tuk.1 + 9 1990 c.1654A>T c.(1654-1656)ATC>TTC p.I552F NM_004416 NP_004407 Q86Y01 DTX1_HUMAN deltex homolog 1 552 negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter cytoplasm|nucleus Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding lung(2)|ovary(1)|central_nervous_system(1) 4 GCGGCTGCTCATCACGGCCTG 0.652 NA 5 18 0 0 0.000602 0 0 RBM19 9904 broad.mit.edu 37 12 114386693 114386693 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:114386693C>A uc009zwi.2 - 10 1365 c.1221G>T c.(1219-1221)CGG>CGT p.R407R RBM19_uc001tvn.3_Silent_p.R407R|RBM19_uc001tvm.2_Silent_p.R407R NM_001146699 NP_001140171 Q9Y4C8 RBM19_HUMAN RNA binding motif protein 19 407 RRM 3. multicellular organismal development|positive regulation of embryonic development chromosome|cytoplasm|nucleolus|nucleoplasm nucleotide binding|RNA binding skin(3)|ovary(1)|liver(1)|central_nervous_system(1) 6 Medulloblastoma(191;0.163)|all_neural(191;0.178) AGGGCAGGTTCCGTACAAAGA 0.592 NA 25 58 3.01185e-09 4.23839e-09 0.003954 1 0 CIT 11113 broad.mit.edu 37 12 120135562 120135562 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr12:120135562C>T uc001txi.1 - 45 5711 c.5658G>A c.(5656-5658)GCG>GCA p.A1886A CIT_uc001txh.1_Silent_p.A1405A|CIT_uc001txj.1_Silent_p.A1928A NM_007174 NP_009105 O14578 CTRO_HUMAN citron 1886 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1) 10 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GGTATGAGGACGCCAAGTAAA 0.602 NA 32 105 0 0 0.010818 0 0 NUPL1 9818 broad.mit.edu 37 13 25899149 25899149 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:25899149C>T uc001uqi.2 + 10 1220 c.974C>T c.(973-975)GCT>GTT p.A325V NUPL1_uc001uqg.1_Missense_Mutation_p.A325V|NUPL1_uc001uqj.2_Missense_Mutation_p.A313V NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 325 14 X 2 AA repeats of F-G.|Potential. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) GCTGAAATAGCTTTAAGAACC 0.328 Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618) NA 4 45 0 0 0.000602 0 0 WASF3 10810 broad.mit.edu 37 13 27259977 27259977 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:27259977G>A uc001uqv.2 + 10 1729 c.1504G>A c.(1504-1506)GAC>AAC p.D502N WASF3_uc001uqw.2_Missense_Mutation_p.D499N NM_006646 NP_006637 Q9UPY6 WASF3_HUMAN WAS protein family, member 3 502 actin filament polymerization cytoplasm|cytoskeleton actin binding pancreas(1) 1 Colorectal(5;0.000247) Lung SC(185;0.0156)|Breast(139;0.147) all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155) CGACTGGTCCGACTGAGCAAA 0.572 NA 6 32 0 0 0.004482 0 0 FLT1 2321 broad.mit.edu 37 13 28882994 28882994 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:28882994T>A uc001usb.3 - 28 3991 c.3706A>T c.(3706-3708)ACC>TCC p.T1236S FLT1_uc010aap.2_Missense_Mutation_p.T241S|FLT1_uc010aaq.2_Missense_Mutation_p.T361S|FLT1_uc001usa.3_Missense_Mutation_p.T454S NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 1236 Cytoplasmic (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AACATGGAGGTGGCATTCGGT 0.403 NA 5 17 0 0 0.001168 0 0 BRCA2 675 broad.mit.edu 37 13 32907344 32907344 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:32907344G>T uc001uub.1 + 10 1956 c.1729G>T c.(1729-1731)GCA>TCA p.A577S BRCA2_uc001uua.1_Missense_Mutation_p.A454S NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 577 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) TTTGAAGAATGCAGGTTTAAT 0.338 Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332) NA D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination FanconAnemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) 9 45 3.09899e-07 3.99083e-07 0.004482 1 0 POSTN 10631 broad.mit.edu 37 13 38166303 38166303 + Splice_Site SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:38166303T>A uc001uwo.3 - 3 337 c.219_splice c.e3-1 p.T73_splice POSTN_uc001uwp.3_Splice_Site_p.T73_splice|POSTN_uc001uwr.2_Splice_Site_p.T73_splice|POSTN_uc001uwq.2_Splice_Site_p.T73_splice|POSTN_uc010teu.1_Splice_Site_p.T73_splice|POSTN_uc010tev.1_Splice_Site_p.T73_splice|POSTN_uc010tew.1_Splice_Site_p.T73_splice|POSTN_uc010tex.1_Splice_Site NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 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) AACACAGTCCTGTACATAGGA 0.289 NA 7 18 0 0 0.001984 0 0 RASA3 22821 broad.mit.edu 37 13 114781695 114781695 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr13:114781695C>A uc001vui.2 - 13 1390 c.1259G>T c.(1258-1260)GGA>GTA p.G420V RASA3_uc010tkk.1_Missense_Mutation_p.G388V|RASA3_uc001vuj.2_Missense_Mutation_p.G37V NM_007368 NP_031394 Q14644 RASA3_HUMAN RAS p21 protein activator 3 420 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity lung(3)|skin(1) 4 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) AAGGTTTTCTCCGTCTTTCAA 0.507 NA 11 30 3.86212e-05 4.51549e-05 0.008291 1 0 CEBPE 1053 broad.mit.edu 37 14 23587927 23587927 + Missense_Mutation SNP C C T rs61737804 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:23587927C>T uc001wiv.1 - 1 548 c.374G>A c.(373-375)CGG>CAG p.R125Q NM_001805 NP_001796 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein epsilon 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2) 2 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CTCTGGCCCCCGGGGCTCCTC 0.672 NSCLC(63;1230 1818 14565 22565) NA 4 54 0 0 0.000602 0 0 HEATR5A 25938 broad.mit.edu 37 14 31855777 31855777 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:31855777G>A uc001wrf.3 - 3 392 c.315C>T c.(313-315)GCC>GCT p.A105A HEATR5A_uc010ami.2_Silent_p.A3A|HEATR5A_uc001wrg.1_Intron|HEATR5A_uc010tpk.1_Silent_p.A398A NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 392 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CACTCATTACGGCATCTGATA 0.373 NA 10 164 0 0 0.006214 0 0 FRMD6 122786 broad.mit.edu 37 14 52188672 52188672 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:52188672G>A uc001wzd.2 + 12 1651 c.1366G>A c.(1366-1368)GAG>AAG p.E456K FRMD6_uc001wzb.2_Missense_Mutation_p.E448K|FRMD6_uc001wzc.2_Missense_Mutation_p.E448K|FRMD6_uc001wze.2_Missense_Mutation_p.E379K|FRMD6_uc001wzf.2_Missense_Mutation_p.E149K|FRMD6_uc001wzg.2_Missense_Mutation_p.E98K NM_152330 NP_689543 Q96NE9 FRMD6_HUMAN FERM domain containing 6 456 cytoskeleton|mitochondrion|plasma membrane binding ovary(1)|breast(1)|central_nervous_system(1) 3 all_epithelial(31;0.0163)|Breast(41;0.089) GTCAGAAATAGAGATGTTGGT 0.418 NA 19 42 0 0 0.008871 0 0 NID2 22795 broad.mit.edu 37 14 52505539 52505539 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:52505539C>A uc001wzo.2 - 9 2417 c.2183G>T c.(2182-2184)CGG>CTG p.R728L NID2_uc010tqs.1_Missense_Mutation_p.R728L|NID2_uc010tqt.1_Missense_Mutation_p.R728L|NID2_uc001wzp.2_Missense_Mutation_p.R728L NM_007361 NP_031387 Q14112 NID2_HUMAN nidogen 2 precursor 728 Nidogen G2 beta-barrel. 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) GGCAAAGACCCGGTCCACGTT 0.522 NA 20 76 5.26018e-13 8.28312e-13 0.012319 1 0 WDHD1 11169 broad.mit.edu 37 14 55411173 55411173 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:55411173G>A uc001xbm.1 - 25 3144 c.3066C>T c.(3064-3066)TTC>TTT p.F1022F WDHD1_uc010aom.1_Silent_p.F539F|WDHD1_uc001xbn.1_Silent_p.F899F NM_007086 NP_009017 O75717 WDHD1_HUMAN WD repeat and HMG-box DNA binding protein 1 1022 HMG box. cytoplasm|nucleoplasm DNA binding skin(1) 1 ACCACATCTGGAACCCGGTCT 0.318 NA 12 32 0 0 0.001368 0 0 DLGAP5 9787 broad.mit.edu 37 14 55643878 55643878 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:55643878C>T uc001xbs.2 - 8 1168 c.951G>A c.(949-951)CTG>CTA p.L317L DLGAP5_uc001xbt.2_Silent_p.L317L NM_014750 NP_055565 Q15398 DLGP5_HUMAN discs large homolog 7 isoform a 317 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding ovary(1)|skin(1) 2 TCAGACCATCCAGTGGCTGAA 0.383 NA 18 34 0 0 0.006122 0 0 PCNX 22990 broad.mit.edu 37 14 71445031 71445031 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:71445031A>T uc001xmo.2 + 6 2423 c.1977A>T c.(1975-1977)ACA>ACT p.T659T PCNX_uc001xmn.3_Silent_p.T659T|PCNX_uc010are.1_Silent_p.T659T NM_014982 NP_055797 Q96RV3 PCX1_HUMAN pecanex-like 1 659 integral to membrane ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(12;0.206) all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417) CTGAACACACACACAAAGCTC 0.493 NA 25 124 0 0 0.00333 0 0 GPR65 8477 broad.mit.edu 37 14 88477216 88477216 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:88477216C>G uc001xvv.2 + 2 555 c.25C>G c.(25-27)CAG>GAG p.Q9E NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 9 Extracellular (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 TATTGAAGAACAGCATGACCT 0.348 NA OREG0031336 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 5 47 0 0 0.000602 0 0 CPSF2 53981 broad.mit.edu 37 14 92600367 92600367 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:92600367G>T uc001yah.1 + 4 399 c.162G>T c.(160-162)CAG>CAT p.Q54H NM_017437 NP_059133 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2 54 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding ovary(2) 2 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) ATGTTCACCAGATTGATGCAG 0.433 Ovarian(78;28 1788 18702 44111) NA 37 112 1.52319e-26 2.81134e-26 0.00874 1 0 KIAA1409 57578 broad.mit.edu 37 14 94063707 94063707 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:94063707G>T uc001ybv.1 + 21 2745 c.2662G>T c.(2662-2664)GAA>TAA p.E888* KIAA1409_uc001ybs.1_Nonsense_Mutation_p.E888* NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1065 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) CATTGCAGTGGAAAAAGTTGC 0.423 NA 11 43 1.58986e-06 1.99374e-06 0.008291 1 0 OR4M2 390538 broad.mit.edu 37 15 22369217 22369217 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:22369217G>T uc010tzu.1 + 1 642 c.642G>T c.(640-642)CTG>CTT p.L214L LOC727924_uc001yua.2_Intron|LOC727924_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, 214 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TGATTGCTCTGTTAATGTCCT 0.483 NA 45 422 1.61863e-15 2.69916e-15 0.00361 1 0 GABRG3 2567 broad.mit.edu 37 15 27572044 27572044 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:27572044G>T uc001zbg.1 + 4 525 c.359G>T c.(358-360)AGC>ATC p.S120I GABRG3_uc001zbf.2_Missense_Mutation_p.S120I NM_033223 NP_150092 Q99928 GBRG3_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 120 Extracellular (Probable). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity 0 all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235) all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261) ACTCTGAACAGCAACATGGTG 0.458 NSCLC(114;800 1656 7410 37729 45293) NA 23 57 3.01185e-09 4.23839e-09 0.003954 1 0 RYR3 6263 broad.mit.edu 37 15 34072493 34072493 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:34072493C>A uc001zhi.2 + 65 9289 c.9219C>A c.(9217-9219)CGC>CGA p.R3073R RYR3_uc010bar.2_Silent_p.R3073R NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 3073 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CCCTTAATCGCTACAATCCAC 0.537 NA 7 14 8.12818e-05 9.34516e-05 0.001984 1 0 RPAP1 26015 broad.mit.edu 37 15 41820068 41820069 + Missense_Mutation DNP GG GG AT TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41820068_41820069GG>AT uc001zod.2 - 11 1541_1542 c.1417_1418CC>AT c.(1417-1419)CCT>ATT p.P473I NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 473 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CTCATCTCCAGGAGCCACCAGC 0.584 NA 4 49 0 0 0.004672 0 0 RPAP1 26015 broad.mit.edu 37 15 41820194 41820194 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41820194G>C uc001zod.2 - 11 1416 c.1292C>G c.(1291-1293)GCA>GGA p.A431G NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 431 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACACTGCCTGCTAGCCGGTC 0.542 NA 3 16 0 0 0.009096 0 0 RPAP1 26015 broad.mit.edu 37 15 41822100 41822100 + Nonsense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41822100G>A uc001zod.2 - 8 1145 c.1021C>T c.(1021-1023)CAG>TAG p.Q341* NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 341 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GGCAAGTCCTGGGTCCAGTGG 0.612 NA 7 21 0 0 0.00308 0 0 RPAP1 26015 broad.mit.edu 37 15 41822157 41822157 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41822157G>A uc001zod.2 - 8 1088 c.964C>T c.(964-966)CCT>TCT p.P322S NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 322 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) TCTTTCTGAGGGGTCACGGGC 0.592 NA 8 23 0 0 0.004482 0 0 RPAP1 26015 broad.mit.edu 37 15 41823307 41823307 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823307G>A uc001zod.2 - 7 981 c.857C>T c.(856-858)TCT>TTT p.S286F NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 286 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GACATTAGCAGAGGGTCCTCC 0.572 NA 56 168 0 0 0.00361 0 0 RPAP1 26015 broad.mit.edu 37 15 41823309 41823309 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823309G>A uc001zod.2 - 7 979 c.855C>T c.(853-855)CCC>CCT p.P285P NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 285 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CATTAGCAGAGGGTCCTCCTG 0.572 NA 56 170 0 0 0.00361 0 0 RPAP1 26015 broad.mit.edu 37 15 41823359 41823359 + Nonsense_Mutation SNP G G A rs78256246 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823359G>A uc001zod.2 - 7 929 c.805C>T c.(805-807)CAA>TAA p.Q269* NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 269 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTTTGCTCTTGCGTGTGGCTG 0.562 NA 41 158 0 0 0.00361 0 0 RPAP1 26015 broad.mit.edu 37 15 41823373 41823373 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:41823373G>C uc001zod.2 - 7 915 c.791C>G c.(790-792)TCT>TGT p.S264C NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 264 nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGGCTGTGAGATCTCAAGAA 0.572 NA 39 137 0 0 0.00361 0 0 GATM 2628 broad.mit.edu 37 15 45657019 45657019 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:45657019G>A uc001zvc.2 - 7 1347 c.1018C>T c.(1018-1020)CCT>TCT p.P340S GATM_uc001zvb.2_Missense_Mutation_p.P211S|GATM_uc010uev.1_Missense_Mutation_p.P393S NM_001482 NP_001473 P50440 GATM_HUMAN L-arginine:glycine amidinotransferase precursor 340 creatine biosynthetic process mitochondrial inner membrane|mitochondrial intermembrane space glycine amidinotransferase activity|protein binding 0 all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06) Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129) GGTGTTGGAGGAGTAATGATA 0.343 NA 6 13 0 0 0.00308 0 0 HDC 3067 broad.mit.edu 37 15 50540498 50540498 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:50540498G>A uc001zxz.2 - 10 1190 c.1084C>T c.(1084-1086)CTC>TTC p.L362F HDC_uc001zxy.2_Missense_Mutation_p.L105F|HDC_uc010uff.1_Intron NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 362 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) ACGAACCAGAGTTTAACAGAG 0.542 GBM(95;1627 1936 6910 9570) NA 17 45 0 0 0.004007 0 0 TRPM7 54822 broad.mit.edu 37 15 50899520 50899520 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:50899520T>C uc001zyt.3 - 20 2850 c.2586A>G c.(2584-2586)GCA>GCG p.A862A TRPM7_uc010bew.1_Silent_p.A862A|TRPM7_uc001zyu.2_Silent_p.A420A NM_017672 NP_060142 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, 862 Helical; (Potential). cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity ovary(4)|stomach(3)|breast(1)|central_nervous_system(1)|skin(1) 10 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) ATCCTAAATATGCCAACTAAT 0.264 NA 14 32 0 0 0.001855 0 0 HERC1 8925 broad.mit.edu 37 15 63988517 63988517 + Nonsense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:63988517G>A uc002amp.2 - 27 5075 c.4927C>T c.(4927-4929)CAG>TAG p.Q1643* HERC1_uc010uil.1_Nonsense_Mutation_p.Q627* NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 1643 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 ACGAGGATCTGATGAAGTGCC 0.413 NA 3 9 0 0 0.004672 0 0 NTRK3 4916 broad.mit.edu 37 15 88690601 88690601 + Silent SNP C C A rs138266478 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:88690601C>A uc002bme.1 - 5 591 c.429G>T c.(427-429)TCG>TCT p.S143S NTRK3_uc002bmh.2_Silent_p.S143S|NTRK3_uc002bmf.1_Silent_p.S143S|NTRK3_uc010upl.1_Silent_p.S45S|NTRK3_uc010bnh.1_Silent_p.S143S|NTRK3_uc002bmg.2_Silent_p.S143S NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN neurotrophic tyrosine kinase, receptor, type 3 143 LRR 2.|Extracellular (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ETV6/NTRK3(234) soft_tissue(85)|kidney(66)|breast(56)|salivary_gland(26)|lung(22)|large_intestine(6)|ovary(6)|stomach(5)|central_nervous_system(3)|pancreas(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1) 281 BRCA - Breast invasive adenocarcinoma(143;0.211) AGAGCTGCCACGAGAGTGTGG 0.453 NA T ETV6 congenital fibrosarcoma|Secretory breast TSP Lung(13;0.10) 11 23 0.000978159 0.00108646 0.010729 1 0 CHD2 1106 broad.mit.edu 37 15 93558024 93558024 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr15:93558024C>T uc002bsp.2 + 37 5366 c.4791C>T c.(4789-4791)ACC>ACT p.T1597T CHD2_uc002bso.1_Silent_p.T1597T NM_001271 NP_001262 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1597 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding ovary(1)|skin(1) 2 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGTCCCATACCTCACACAACC 0.527 NA 7 105 0 0 0.00308 0 0 PRSS22 64063 broad.mit.edu 37 16 2903323 2903323 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:2903323G>A uc002cry.1 - 6 791 c.725C>T c.(724-726)TCC>TTC p.S242F PRSS22_uc002crz.1_Missense_Mutation_p.S132F NM_022119 NP_071402 Q9GZN4 BSSP4_HUMAN protease, serine, 22 precursor 242 Peptidase S1. Charge relay system (By similarity). proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1) 1 GGGGCCCCCGGAGTCGCCCTG 0.711 NA 9 21 0 0 0.006214 0 0 GPRC5B 51704 broad.mit.edu 37 16 19883154 19883154 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:19883154C>A uc002dgt.2 - 2 1122 c.1014G>T c.(1012-1014)ATG>ATT p.M338I GPRC5B_uc010vav.1_Missense_Mutation_p.M364I NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 338 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 TGTGTTCATCCATGGAGAAGG 0.587 NA 23 133 2.21704e-12 3.42183e-12 0.00278 1 0 ERN2 10595 broad.mit.edu 37 16 23703537 23703538 + Missense_Mutation DNP GG GG TT TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 GG GG - - GG GG Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:23703537_23703538GG>TT uc002dma.3 - 18 2528_2529 c.2359_2360CC>AA c.(2359-2361)CCC>AAC p.P787N ERN2_uc010bxp.2_Missense_Mutation_p.P735N NM_033266 NP_150296 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signalling 2 739 Protein kinase.|Cytoplasmic (Potential). apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AGCCAGACAGGGAGCCCCTGTG 0.604 NA 58 66 0 0 0.004672 0 0 SULT1A2 6799 broad.mit.edu 37 16 28604843 28604843 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:28604843T>C uc002dqg.1 - 5 770 c.419A>G c.(418-420)TAC>TGC p.Y140C uc010vct.1_Intron|SULT1A2_uc002dqh.1_Missense_Mutation_p.Y140C NM_177528 NP_803564 P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, 140 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity 0 GTAGAAGTGGTAGTAGGAAAC 0.577 NA 52 47 0 0 0.00361 0 0 SLC6A2 6530 broad.mit.edu 37 16 55703493 55703493 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:55703493G>A uc002eif.2 + 3 402 c.291G>A c.(289-291)CCG>CCA p.P97P SLC6A2_uc010ccd.2_Silent_p.P97P|SLC6A2_uc002eig.2_Silent_p.P97P|SLC6A2_uc002eih.2_Silent_p.P97P|SLC6A2_uc002eii.2_5'Flank NM_001043 NP_001034 P23975 SC6A2_HUMAN solute carrier family 6 member 2 97 Helical; Name=2; (Potential). synaptic transmission integral to plasma membrane|membrane fraction norepinephrine:sodium symporter activity lung(4)|ovary(2)|pancreas(2) 8 BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267) Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285) TCTTGATCCCGTACACACTGT 0.577 NA 5 74 0 0 0.001168 0 0 CNOT1 23019 broad.mit.edu 37 16 58608961 58608961 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:58608961C>T uc002env.2 - 15 2070 c.1777G>A c.(1777-1779)GAA>AAA p.E593K CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.E593K|CNOT1_uc002enx.2_Missense_Mutation_p.E593K|CNOT1_uc002enz.1_Missense_Mutation_p.E22K NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 593 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTGAGGTATTCACGACGTGAA 0.393 NA 8 71 0 0 0.00308 0 0 SLC12A4 6560 broad.mit.edu 37 16 67997387 67997387 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:67997387C>T uc002euz.2 - 2 332 c.191G>A c.(190-192)AGG>AAG p.R64K SLC12A4_uc010ceu.2_Missense_Mutation_p.R58K|SLC12A4_uc010vkh.1_Missense_Mutation_p.R33K|SLC12A4_uc010vki.1_Missense_Mutation_p.R64K|SLC12A4_uc010vkj.1_Intron|SLC12A4_uc002eva.2_Missense_Mutation_p.R64K|SLC12A4_uc002evb.2_RNA|SLC12A4_uc010cew.1_5'UTR NM_005072 NP_005063 Q9UP95 S12A4_HUMAN solute carrier family 12, member 4 isoform a 64 Cytoplasmic (Potential). cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) TGCCAGGTTCCTGTCATAGTA 0.547 NA 25 31 0 0 0.007291 0 0 DPEP3 64180 broad.mit.edu 37 16 68014139 68014139 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:68014139G>A uc002evc.3 - 1 314 c.220C>T c.(220-222)CTG>TTG p.L74L DPEP3_uc010cex.2_Silent_p.L74L NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 49 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) GGGGAGCCCAGCGTGGAGAGG 0.612 NA 10 12 0 0 0.008291 0 0 PMFBP1 83449 broad.mit.edu 37 16 72153719 72153719 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:72153719C>A uc002fcc.3 - 20 3225 c.3053G>T c.(3052-3054)TGT>TTT p.C1018F PMFBP1_uc002fcd.2_Intron|PMFBP1_uc002fce.2_Intron|PMFBP1_uc002fcf.2_Intron NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 1018 ovary(2) 2 Ovarian(137;0.179) AAAAAAATCACACTTATTTTT 0.433 NA 3 37 0.004672 0.00502765 0.004672 1 0 FA2H 79152 broad.mit.edu 37 16 74750356 74750356 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:74750356G>A uc002fde.1 - 6 996 c.928C>T c.(928-930)CTC>TTC p.L310F FA2H_uc002fdd.1_Missense_Mutation_p.L83F|FA2H_uc010vmy.1_RNA NM_024306 NP_077282 Q7L5A8 FA2H_HUMAN fatty acid 2-hydroxylase 310 Helical; (Potential). cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport endoplasmic reticulum membrane|integral to membrane|microsome heme binding|oxidoreductase activity 0 ATGTCATAGAGGACGTAGCCC 0.597 NA 12 18 0 0 0.00245 0 0 KLHL36 79786 broad.mit.edu 37 16 84691417 84691417 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:84691417G>T uc002fig.2 + 3 1145 c.1004G>T c.(1003-1005)CGG>CTG p.R335L KLHL36_uc010chl.2_Missense_Mutation_p.R334L NM_024731 NP_079007 Q8N4N3 KLH36_HUMAN kelch-like 36 335 Kelch 1. skin(2) 2 CCCGCCCGGCGGAGCCACCAC 0.652 NA 5 12 3.59834e-05 4.22295e-05 0.001168 1 0 CBFA2T3 863 broad.mit.edu 37 16 88945811 88945811 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:88945811G>C uc002fmm.1 - 11 1715 c.1529C>G c.(1528-1530)TCG>TGG p.S510W CBFA2T3_uc002fml.1_Missense_Mutation_p.S424W|CBFA2T3_uc002fmk.1_Missense_Mutation_p.S9W NM_005187 NP_005178 O75081 MTG16_HUMAN myeloid translocation gene on chromosome 16 510 Potential. cell proliferation|granulocyte differentiation Golgi membrane|nucleolus|nucleoplasm protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding large_intestine(3)|ovary(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0275) CTCCGCGTCCGACACGGCTTT 0.672 NA T RUNX1 AML 18 35 0 0 0.012319 0 0 CDH15 1013 broad.mit.edu 37 16 89258091 89258091 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr16:89258091C>A uc002fmt.2 + 10 1481 c.1404C>A c.(1402-1404)ACC>ACA p.T468T NM_004933 NP_004924 P55291 CAD15_HUMAN cadherin 15 preproprotein 468 Cadherin 4.|Extracellular (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane calcium ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0261) CCACCGGCACCCTGTCCATCG 0.721 NA 11 14 1.58986e-06 1.99374e-06 0.008291 1 0 TP53 7157 broad.mit.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T A rs67185453 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:7577536T>A uc002gim.2 - 7 939 c.745A>T c.(745-747)AGG>TGG p.R249W TP53_uc002gig.1_Missense_Mutation_p.R249W|TP53_uc002gih.2_Missense_Mutation_p.R249W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R117W|TP53_uc010cng.1_Missense_Mutation_p.R117W|TP53_uc002gii.1_Missense_Mutation_p.R117W|TP53_uc010cnh.1_Missense_Mutation_p.R249W|TP53_uc010cni.1_Missense_Mutation_p.R249W|TP53_uc002gij.2_Missense_Mutation_p.R249W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R156W|TP53_uc002gio.2_Missense_Mutation_p.R117W NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 249 |Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (in sporadic cancers; somatic mutation).|R -> T (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> I (in a sporadic cancer; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> K (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.R249S(303)|p.R249M(25)|p.R249G(24)|p.R249W(23)|p.R249T(16)|p.R249K(14)|p.0?(7)|p.R249R(6)|p.R249fs*96(6)|p.M246_P250delMNRRP(2)|p.R249fs*14(2)|p.N247_P250delNRRP(1)|p.R249fs*15(1)|p.R249_I251delRPI(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.N247_R248delNR(1)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.R249_T256delRPILTIIT(1)|p.R249_P250>SS(1)|p.G245fs*14(1)|p.R249fs*19(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) AGGATGGGCCTCCGGTTCATG 0.567 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) 22 24 0 0 0.00278 0 0 PIK3R6 146850 broad.mit.edu 37 17 8732150 8732150 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:8732150C>G uc002glq.1 - 11 1287 c.1047G>C c.(1045-1047)GGG>GGC p.G349G PIK3R6_uc002glr.1_RNA|PIK3R6_uc002gls.1_RNA NM_001010855 NP_001010855 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 349 platelet activation cytosol 0 GCTCATCAGCCCCCGTGGGAA 0.662 NA 7 15 0 0 0.00308 0 0 NCOR1 9611 broad.mit.edu 37 17 16068441 16068441 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:16068441G>A uc002gpo.2 - 5 710 c.470C>T c.(469-471)TCC>TTC p.S157F NCOR1_uc002gpn.2_Missense_Mutation_p.S157F|NCOR1_uc002gpp.1_Missense_Mutation_p.S48F|NCOR1_uc002gpr.2_Missense_Mutation_p.S48F|NCOR1_uc002gps.1_Missense_Mutation_p.S157F|NCOR1_uc010coz.1_5'UTR|NCOR1_uc010cpb.1_Missense_Mutation_p.S157F|NCOR1_uc010cpa.1_Missense_Mutation_p.S157F|NCOR1_uc002gpu.2_Missense_Mutation_p.S157F NM_006311 NP_006302 O75376 NCOR1_HUMAN nuclear receptor co-repressor 1 157 Interaction with ZBTB33 and HEXIM1. cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding upper_aerodigestive_tract(2)|ovary(1)|central_nervous_system(1)|kidney(1) 5 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) AATTGGAGAGGATGGAGCTTC 0.393 NA 6 80 0 0 0.00308 0 0 RAB11FIP4 84440 broad.mit.edu 37 17 29857480 29857480 + Missense_Mutation SNP G G T rs147400342 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:29857480G>T uc002hgn.1 + 14 2019 c.1790G>T c.(1789-1791)CGC>CTC p.R597L RAB11FIP4_uc002hgo.2_Missense_Mutation_p.R495L NM_032932 NP_116321 Q86YS3 RFIP4_HUMAN RAB11 family interacting protein 4 (class II) 597 Potential.|Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.|FIP-RBD. cytokinesis|interspecies interaction between organisms|protein transport cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding skin(1) 1 all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066) ACCGCCTCGCGCGATGAGGTA 0.587 NA 16 94 9.16793e-09 1.2644e-08 0.00499 1 0 C17orf102 400591 broad.mit.edu 37 17 32904574 32904574 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:32904574G>T uc002hie.1 - 2 565 c.476C>A c.(475-477)GCT>GAT p.A159D NM_207454 NP_997337 A2RUQ5 CQ102_HUMAN hypothetical protein LOC400591 159 p.A159T(1) ovary(1) 1 gaggacaagagctggttttgt 0.244 NA 10 30 2.52707e-12 3.89068e-12 0.006214 1 0 LIG3 3980 broad.mit.edu 37 17 33323635 33323635 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:33323635G>C uc002hik.1 + 11 1894 c.1786G>C c.(1786-1788)GAT>CAT p.D596H LIG3_uc002hij.2_Missense_Mutation_p.D596H NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 596 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) GTTTGTTTTTGATTGTATCTA 0.403 NA Other_BER_factors 15 117 0 0 0.006122 0 0 LIG3 3980 broad.mit.edu 37 17 33323660 33323660 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:33323660G>C uc002hik.1 + 11 1919 c.1811G>C c.(1810-1812)AGC>ACC p.S604T LIG3_uc002hij.2_Missense_Mutation_p.S604T NM_013975 NP_039269 P49916 DNLI3_HUMAN ligase III, DNA, ATP-dependent isoform alpha 604 base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis nucleoplasm ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1) 9 Ovarian(249;0.17) Bleomycin(DB00290) AATGATGTCAGCTTGATGGAC 0.433 NA Other_BER_factors 11 102 0 0 0.010729 0 0 KRT37 8688 broad.mit.edu 37 17 39579095 39579095 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:39579095C>A uc002hwp.1 - 3 714 c.667G>T c.(667-669)GAC>TAC p.D223Y uc002hwo.1_Intron NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 223 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) GCCTCCAGGTCGGCCTTGGCC 0.662 NA 17 55 4.7546e-09 6.67576e-09 0.004007 1 0 KRT36 8689 broad.mit.edu 37 17 39645847 39645847 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:39645847G>T uc002hwt.2 - 1 270 c.270C>A c.(268-270)AAC>AAA p.N90K NM_003771 NP_003762 O76013 KRT36_HUMAN keratin 36 90 Head. intermediate filament protein binding|structural constituent of epidermis 0 Breast(137;0.000286) TCTCGCTGCCGTTGAAGGAGC 0.632 NA 28 113 2.08457e-15 3.4576e-15 0.010818 1 0 BRCA1 672 broad.mit.edu 37 17 41234512 41234513 + Missense_Mutation DNP CC CC AA TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:41234512_41234513CC>AA uc002icq.2 - 12 4497_4498 c.4265_4266GG>TT c.(4264-4266)GGG>GTT p.G1422V BRCA1_uc010whp.1_Missense_Mutation_p.G272V|BRCA1_uc010whl.1_Missense_Mutation_p.G319V|BRCA1_uc010whm.1_Intron|BRCA1_uc002icp.3_Missense_Mutation_p.G1351V|BRCA1_uc002icu.2_Missense_Mutation_p.G319V|BRCA1_uc010cyx.2_Missense_Mutation_p.G1375V|BRCA1_uc002ict.2_Missense_Mutation_p.G1422V|BRCA1_uc010whn.1_Intron|BRCA1_uc010who.1_Intron|BRCA1_uc010whq.1_Missense_Mutation_p.G151V|BRCA1_uc002idc.1_Missense_Mutation_p.G318V|BRCA1_uc010whr.1_Missense_Mutation_p.G272V NM_007294 NP_009225 P38398 BRCA1_HUMAN breast cancer 1, early onset isoform 1 1422 Interaction with PALB2. androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding ovary(24)|breast(21)|lung(4)|central_nervous_system(1)|endometrium(1)|urinary_tract(1) 52 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) AAGGCTGGCTCCCATGCTGTTC 0.45 NA D|Mis|N|F|S ovarian breast|ovarian Homologous_recombination Hereditary_Breast-Ovarian_Cancer_BRCA1_type TCGA Ovarian(2;0.000030) 20 69 0 0 0.004672 0 0 CUEDC1 404093 broad.mit.edu 37 17 55950963 55950963 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:55950963C>A uc002ivd.1 - 4 1299 c.580G>T c.(580-582)GAC>TAC p.D194Y CUEDC1_uc002ive.1_Missense_Mutation_p.D194Y NM_017949 NP_060419 Q9NWM3 CUED1_HUMAN CUE domain-containing 1 194 skin(2) 2 TGTATGCTGTCCAGCTGCTGG 0.587 NA 26 69 3.28513e-13 5.19936e-13 0.003954 1 0 PPM1E 22843 broad.mit.edu 37 17 57046944 57046944 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:57046944G>T uc002iwx.2 + 4 955 c.828G>T c.(826-828)GGG>GGT p.G276G PPM1E_uc010ddd.2_Silent_p.G39G NM_014906 NP_055721 Q8WY54 PPM1E_HUMAN protein phosphatase 1E 285 PP2C-like. protein dephosphorylation cytoplasm|nucleolus|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(3)|lung(1)|skin(1) 5 Medulloblastoma(34;0.127)|all_neural(34;0.237) BRCA - Breast invasive adenocarcinoma(1;5.76e-11) ATGGCCATGGGGGAGTAGATG 0.493 NA 23 50 5.35356e-11 7.94729e-11 0.00278 1 0 SOX9 6662 broad.mit.edu 37 17 70117637 70117637 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:70117637C>A uc002jiw.2 + 1 477 c.105C>A c.(103-105)TGC>TGA p.C35* uc002jiv.2_5'Flank NM_000346 NP_000337 P48436 SOX9_HUMAN transcription factor SOX9 35 cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction nucleus|protein complex core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription 0 Colorectal(1115;0.245) STAD - Stomach adenocarcinoma(260;0.119) GCTCGCCCTGCCCGTCGGGCT 0.672 Pancreas(42;83 1041 2320 35205 39456) NA 4 16 0.00909568 0.00963801 0.009096 1 0 SDK2 54549 broad.mit.edu 37 17 71334933 71334933 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:71334933C>A uc010dfm.2 - 45 6312 c.6312G>T c.(6310-6312)GAG>GAT p.E2104D SDK2_uc002jjt.3_Missense_Mutation_p.E1244D NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN sidekick 2 2104 Cytoplasmic (Potential). cell adhesion integral to membrane ovary(2) 2 CCGAGTCGCTCTCCGTGTAGC 0.617 NA 12 33 3.07112e-06 3.79015e-06 0.010729 1 0 KIF19 124602 broad.mit.edu 37 17 72346894 72346894 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:72346894G>A uc002jkm.3 + 12 1575 c.1437G>A c.(1435-1437)CAG>CAA p.Q479Q KIF19_uc002jkj.2_Silent_p.Q479Q|KIF19_uc002jkk.2_Silent_p.Q437Q|KIF19_uc002jkl.2_Silent_p.Q437Q NM_153209 NP_694941 Q2TAC6 KIF19_HUMAN kinesin family member 19 479 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity 0 GGGAGGAGCAGCGAAAGGAGT 0.652 NA 38 90 0 0 0.013114 0 0 BTBD17 388419 broad.mit.edu 37 17 72356255 72356255 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:72356255G>T uc002jkn.2 - 2 215 c.215C>A c.(214-216)GCG>GAG p.A72E NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 72 BTB. extracellular region 0 ATCGGTGCCCGCAGCCTGCAC 0.662 NA 12 30 2.27111e-07 2.96771e-07 0.001368 1 0 GGA3 23163 broad.mit.edu 37 17 73240717 73240717 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:73240717T>G uc002jni.1 - 4 292 c.283A>C c.(283-285)AAA>CAA p.K95Q GGA3_uc002jnj.1_Intron|GGA3_uc010wrw.1_Intron|GGA3_uc002jnk.1_Missense_Mutation_p.K23Q|GGA3_uc010wrx.1_Intron|GGA3_uc010wry.1_Missense_Mutation_p.K23Q|GGA3_uc010wrz.1_Intron NM_138619 NP_619525 Q9NZ52 GGA3_HUMAN ADP-ribosylation factor binding protein 3 95 VHS.|Binds to ARF1 (in long isoform). intracellular protein transport|vesicle-mediated transport clathrin adaptor complex|endosome membrane|trans-Golgi network ADP-ribosylation factor binding ovary(1)|breast(1) 2 all cancers(21;2.39e-06)|Epithelial(20;2.38e-05) GAGACGACTTTGATTAACTCA 0.488 NA 69 187 0 0 0.00361 0 0 MGAT5B 146664 broad.mit.edu 37 17 74921063 74921063 + Silent SNP G G A rs114240204 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:74921063G>A uc002jti.2 + 8 1177 c.1074G>A c.(1072-1074)CCG>CCA p.P358P MGAT5B_uc002jth.2_Silent_p.P347P NM_198955 NP_945193 Q3V5L5 MGT5B_HUMAN N-acetylglucosaminyltranferase VB isoform 2 347 Lumenal (Potential). Golgi membrane|integral to membrane alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(2)|skin(1) 3 TAGGGGTACCGCCAGGCCGGG 0.607 NA 15 112 0 0 0.004007 0 0 CBX2 84733 broad.mit.edu 37 17 77758716 77758716 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:77758716G>T uc002jxc.2 + 5 1516 c.1474G>T c.(1474-1476)GAC>TAC p.D492Y NM_005189 NP_005180 Q14781 CBX2_HUMAN chromobox homolog 2 isoform 1 492 cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex DNA binding 0 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GACCAGCCAGGACTGGAAGCC 0.637 NA 18 37 2.37509e-13 3.78797e-13 0.010504 1 0 RPTOR 57521 broad.mit.edu 37 17 78931471 78931471 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:78931471A>T uc002jyt.1 + 29 4223 c.3418A>T c.(3418-3420)AGC>TGC p.S1140C RPTOR_uc010wug.1_Missense_Mutation_p.S982C|RPTOR_uc002jyu.1_Missense_Mutation_p.S33C NM_020761 NP_065812 Q8N122 RPTOR_HUMAN raptor isoform 1 1140 WD 3. cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding lung(4)|urinary_tract(1)|ovary(1) 6 CCTCCTCATGAGCTCAGGAGA 0.632 NA 23 125 0 0 0.00278 0 0 SLC38A10 124565 broad.mit.edu 37 17 79219556 79219556 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr17:79219556G>A uc002jzz.1 - 16 3535 c.3160C>T c.(3160-3162)CGG>TGG p.R1054W SLC38A10_uc002jzy.1_Missense_Mutation_p.R972W NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 isoform a 1054 amino acid transport|sodium ion transport integral to membrane pancreas(1)|skin(1) 2 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCAAGGTCCCGCCGTCGCCTC 0.672 NA 17 41 0 0 0.004007 0 0 ANKRD12 23253 broad.mit.edu 37 18 9255152 9255152 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:9255152T>C uc002knv.2 + 9 2144 c.1887T>C c.(1885-1887)CAT>CAC p.H629H ANKRD12_uc002knw.2_Silent_p.H606H|ANKRD12_uc002knx.2_Silent_p.H606H|ANKRD12_uc010dkx.1_Silent_p.H336H NM_015208 NP_056023 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 isoform 1 629 nucleus ovary(2)|central_nervous_system(1) 3 ATGAAGATCATAGTCCAACAT 0.174 NA 5 63 0 0 0.001168 0 0 MPPE1 65258 broad.mit.edu 37 18 11885721 11885721 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:11885721A>C uc002kqf.2 - 10 1603 c.962T>G c.(961-963)GTC>GGC p.V321G MPPE1_uc002kqn.2_Missense_Mutation_p.V258G|MPPE1_uc002kqg.2_RNA|MPPE1_uc002kqh.2_RNA|MPPE1_uc002kqi.2_RNA|MPPE1_uc002kqj.2_Missense_Mutation_p.V322G|MPPE1_uc002kqk.2_Missense_Mutation_p.V299G|MPPE1_uc002kql.2_Missense_Mutation_p.V322G|MPPE1_uc002kqm.2_Missense_Mutation_p.V258G NM_023075 NP_075563 Q53F39 MPPE1_HUMAN metallophosphoesterase 1 precursor 321 ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity 0 GAAAGATGGGACGCTGAGCTC 0.527 NA 5 41 0 0 0.00308 0 0 RIOK3 8780 broad.mit.edu 37 18 21057143 21057143 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21057143G>T uc002kui.3 + 11 1872 c.1255G>T c.(1255-1257)GTC>TTC p.V419F RIOK3_uc010dls.2_Missense_Mutation_p.V419F|RIOK3_uc010xas.1_Missense_Mutation_p.V403F|RIOK3_uc010xat.1_Missense_Mutation_p.V163F NM_003831 NP_003822 O14730 RIOK3_HUMAN sudD suppressor of bimD6 homolog 419 Protein kinase. chromosome segregation ATP binding|protein binding|protein serine/threonine kinase activity ovary(2)|central_nervous_system(1) 3 all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127) ATTGAAATAGGTCTGGTTGAT 0.413 NA 20 49 1.28384e-07 1.68826e-07 0.012319 1 0 LAMA3 3909 broad.mit.edu 37 18 21485527 21485527 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21485527G>T uc002kuq.2 + 52 6743 c.6657G>T c.(6655-6657)CTG>CTT p.L2219L LAMA3_uc002kur.2_Silent_p.L2163L|LAMA3_uc002kus.3_Silent_p.L610L|LAMA3_uc002kut.3_Silent_p.L554L NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2219 Domain II and I. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTAAAACCCTGAGTTCCAACA 0.393 NA 27 50 3.65163e-15 6.0247e-15 0.00632 1 0 LAMA3 3909 broad.mit.edu 37 18 21512237 21512237 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21512237G>A uc002kuq.2 + 66 8776 c.8690G>A c.(8689-8691)AGC>AAC p.S2897N LAMA3_uc002kur.2_Missense_Mutation_p.S2841N|LAMA3_uc002kus.3_Missense_Mutation_p.S1288N|LAMA3_uc002kut.3_Missense_Mutation_p.S1232N NM_198129 NP_937762 Q16787 LAMA3_HUMAN laminin alpha 3 subunit isoform 1 2897 Laminin G-like 3. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|skin(2)|central_nervous_system(1) 11 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGTTGTATTAGCAATGTTTTT 0.468 NA 33 73 0 0 0.003271 0 0 TTC39C 125488 broad.mit.edu 37 18 21698196 21698196 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:21698196G>T uc002kuw.2 + 8 1638 c.1186G>T c.(1186-1188)GTT>TTT p.V396F TTC39C_uc002kuu.2_Missense_Mutation_p.V335F NM_001135993 NP_001129465 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C isoform 1 396 binding ovary(1) 1 CTTGACTGCAGGTGAGTCGCC 0.313 NA 5 45 0.000602214 0.000670085 0.000602 1 0 DSC2 1824 broad.mit.edu 37 18 28648987 28648987 + Missense_Mutation SNP G G A rs1617629 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:28648987G>A uc002kwl.3 - 15 2835 c.2381C>T c.(2380-2382)TCG>TTG p.S794L DSC2_uc002kwk.3_Missense_Mutation_p.S794L NM_024422 NP_077740 Q02487 DSC2_HUMAN desmocollin 2 isoform Dsc2a preproprotein 794 Cytoplasmic (Potential). homophilic cell adhesion desmosome|integral to membrane calcium ion binding ovary(2)|skin(1) 3 OV - Ovarian serous cystadenocarcinoma(10;0.0241) GCAGGATTCCGAGGTCTGGTG 0.592 NA 11 62 0 0 0.008291 0 0 MOCOS 55034 broad.mit.edu 37 18 33775249 33775249 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:33775249A>T uc002kzq.3 + 2 195 c.172A>T c.(172-174)ACC>TCC p.T58S NM_017947 NP_060417 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 58 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding skin(1) 1 Pyridoxal Phosphate(DB00114) TGCAGGTGCCACCTTGTTCTC 0.388 NA 56 87 0 0 0.00361 0 0 RIT2 6014 broad.mit.edu 37 18 40503541 40503541 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:40503541C>T uc002lav.2 - 4 595 c.422G>A c.(421-423)CGC>CAC p.R141H RIT2_uc010dnf.2_Missense_Mutation_p.R141H NM_002930 NP_002921 Q99578 RIT2_HUMAN Ras-like without CAAX 2 141 nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission intracellular|plasma membrane calmodulin binding|GTP binding|GTPase activity ovary(1) 1 ACTCACCTGGCGGAACTGTTC 0.458 NA 24 191 0 0 0.003954 0 0 SETBP1 26040 broad.mit.edu 37 18 42530368 42530368 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:42530368G>T uc010dni.2 + 4 1359 c.1063G>T c.(1063-1065)GTC>TTC p.V355F NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN SET binding protein 1 isoform a 355 nucleus DNA binding upper_aerodigestive_tract(2)|large_intestine(1) 3 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) CCTGGATTGGGTCAAGAATGC 0.488 NA Schinzel-Giedion_syndrome 16 82 5.01169e-05 5.84854e-05 0.00499 1 0 ALPK2 115701 broad.mit.edu 37 18 56203989 56203989 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:56203989G>T uc002lhj.3 - 5 3644 c.3430C>A c.(3430-3432)CAG>AAG p.Q1144K ALPK2_uc002lhk.1_Missense_Mutation_p.Q475K NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN heart alpha-kinase 1144 ATP binding|protein serine/threonine kinase activity ovary(7)|skin(5)|lung(1)|central_nervous_system(1) 14 GAACCCTGCTGGGACAGGCTC 0.522 NA 12 201 1.08611e-07 1.43736e-07 0.010729 1 0 CDH20 28316 broad.mit.edu 37 18 59217383 59217383 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:59217383C>A uc010dps.1 + 10 1833 c.1821C>A c.(1819-1821)AGC>AGA p.S607R CDH20_uc002lif.2_Missense_Mutation_p.S601R NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN cadherin 20, type 2 preproprotein 607 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|ovary(1)|pancreas(1) 5 Colorectal(73;0.186) TGTCCTGCAGCCCAGAGGCCT 0.597 NA 23 42 3.62473e-10 5.26772e-10 0.012319 1 0 SERPINB12 89777 broad.mit.edu 37 18 61232776 61232776 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:61232776C>A uc010xen.1 + 6 744 c.744C>A c.(742-744)ACC>ACA p.T248T SERPINB12_uc010xeo.1_Silent_p.T268T NM_080474 NP_536722 Q96P63 SPB12_HUMAN serine (or cysteine) proteinase inhibitor, clade 248 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity 0 TGAGGTACACCAAGGGGAAGC 0.443 NA 4 79 0.00024832 0.000280318 0.009096 1 0 FBXO15 201456 broad.mit.edu 37 18 71796748 71796748 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:71796748A>G uc002lle.2 - 5 785 c.449T>C c.(448-450)GTT>GCT p.V150A FBXO15_uc002llf.2_Missense_Mutation_p.V226A NM_152676 NP_689889 Q8NCQ5 FBX15_HUMAN F-box protein 15 isoform 1 150 ovary(2)|pancreas(1) 3 Esophageal squamous(42;0.103)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.143) ATACCATATAACAGTAACTGA 0.368 NA 7 35 0 0 0.00308 0 0 ZNF516 9658 broad.mit.edu 37 18 74091856 74091856 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:74091856C>A uc010dqx.1 - 3 2449 c.2214G>T c.(2212-2214)AGG>AGT p.R738S ZNF516_uc002lme.2_RNA|ZNF516_uc002lmd.2_RNA NM_014643 NP_055458 Q92618 ZN516_HUMAN zinc finger protein 516 738 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CCCGCGTCGACCTCGCACTTA 0.592 NA 37 25 1.836e-18 3.19886e-18 0.003755 1 0 NFATC1 4772 broad.mit.edu 37 18 77227449 77227449 + Splice_Site SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr18:77227449G>C uc010xfg.1 + 8 2413 c.1960_splice c.e8-1 p.N654_splice NFATC1_uc002lnc.1_Splice_Site_p.N654_splice|NFATC1_uc010xff.1_Splice_Site_p.R625_splice|NFATC1_uc002lnd.2_Splice_Site_p.N654_splice|NFATC1_uc002lne.2_Splice_Site_p.N182_splice|NFATC1_uc010xfh.1_Splice_Site_p.N654_splice|NFATC1_uc010xfi.1_Splice_Site_p.N641_splice|NFATC1_uc010xfj.1_Splice_Site_p.N182_splice|NFATC1_uc002lnf.2_Splice_Site_p.N641_splice|NFATC1_uc002lng.2_Splice_Site_p.N641_splice|NFATC1_uc010xfk.1_Splice_Site_p.N641_splice NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) TTCTCCTGTAGAATTCTCTGG 0.612 GBM(151;1210 2593 28719 45011) NA 3 79 0 0 0.004672 0 0 ABCA7 10347 broad.mit.edu 37 19 1055905 1055905 + Splice_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:1055905G>T uc002lqw.3 + 31 4437 c.4206_splice c.e31-1 p.G1402_splice ABCA7_uc010dsb.1_Splice_Site_p.G1264_splice|ABCA7_uc002lqy.2_5'Flank|ABCA7_uc010dsc.2_5'Flank NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 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) CTCTCCCACAGCCTGAAGACT 0.582 NA 45 31 3.68337e-26 6.77828e-26 0.00361 1 0 TMIGD2 126259 broad.mit.edu 37 19 4292808 4292808 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:4292808C>T uc002lzx.1 - 5 683 c.637G>A c.(637-639)GGG>AGG p.G213R TMIGD2_uc010dtv.1_Missense_Mutation_p.G209R NM_144615 NP_653216 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain 213 Cytoplasmic (Potential). integral to membrane 0 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) TGGTCCTTCCCCTCTCCAGAG 0.542 NA 52 43 0 0 0.00361 0 0 VAV1 7409 broad.mit.edu 37 19 6772756 6772756 + Translation_Start_Site SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:6772756G>A uc002mfu.1 + 1 35 c.-62G>A c.(-64--60)GCGTG>GCATG VAV1_uc010xjh.1_Translation_Start_Site|VAV1_uc010dva.1_Translation_Start_Site NM_005428 NP_005419 P15498 VAV_HUMAN vav 1 guanine nucleotide exchange factor apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity lung(4)|ovary(4)|breast(3)|central_nervous_system(2)|kidney(2)|skin(1) 16 CAGGGCAGGCGTGCGGGCGGG 0.672 NA 18 14 0 0 0.008871 0 0 MUC16 94025 broad.mit.edu 37 19 8976586 8976586 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:8976586G>A uc002mkp.2 - 74 42594 c.42390C>T c.(42388-42390)TCC>TCT p.S14130S MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.S930S|MUC16_uc010xki.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 14161 SEA 14.|Extracellular (Potential). Missing (in Ref. 3; AAK74120). 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 CTCACCTGAGGGAGATCAGTT 0.557 NA 9 16 0 0 0.004482 0 0 ZNF560 147741 broad.mit.edu 37 19 9578679 9578679 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:9578679C>T uc002mlp.1 - 10 1154 c.944G>A c.(943-945)AGT>AAT p.S315N ZNF560_uc010dwr.1_Missense_Mutation_p.S209N NM_152476 NP_689689 Q96MR9 ZN560_HUMAN zinc finger protein 560 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(2)|ovary(1)|large_intestine(1)|pancreas(1)|liver(1) 6 TTTTTCTCCACTCTGAGTTTT 0.398 NA 6 82 0 0 0.001168 0 0 CD97 976 broad.mit.edu 37 19 14515282 14515282 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:14515282T>C uc002myl.2 + 13 1660 c.1537T>C c.(1537-1539)TGC>CGC p.C513R CD97_uc002mym.2_Missense_Mutation_p.C464R|CD97_uc002myn.2_Missense_Mutation_p.C420R NM_078481 NP_510966 P48960 CD97_HUMAN CD97 antigen isoform 1 precursor 513 Extracellular (Potential).|GPS. cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(3)|breast(1) 4 CACCGAGGGCTGCCAGGTGCT 0.617 NA 37 54 0 0 0.003271 0 0 CYP4F22 126410 broad.mit.edu 37 19 15651465 15651465 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:15651465G>T uc002nbh.3 + 8 1043 c.876G>T c.(874-876)GAG>GAT p.E292D NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, 292 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen ovary(1)|pancreas(1) 2 AGGGGGCCGAGGCCTGGCTTA 0.647 NA 33 50 6.00712e-18 1.0379e-17 0.012213 1 0 MYO9B 4650 broad.mit.edu 37 19 17313008 17313008 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:17313008A>G uc010eak.2 + 28 4884 c.4732A>G c.(4732-4734)ACT>GCT p.T1578A MYO9B_uc002nfi.2_Missense_Mutation_p.T1578A|MYO9B_uc002nfj.1_Missense_Mutation_p.T1578A|MYO9B_uc002nfl.1_Missense_Mutation_p.T127A NM_004145 NP_004136 Q13459 MYO9B_HUMAN myosin IXB isoform 1 1578 Tail. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(1) 1 CAACCTGGCCACTGAGCGTGG 0.562 NA 17 12 0 0 0.006122 0 0 JAK3 3718 broad.mit.edu 37 19 17955088 17955088 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:17955088C>A uc002nhn.3 - 2 239 c.139G>T c.(139-141)GAC>TAC p.D47Y JAK3_uc010ebh.2_RNA|JAK3_uc002nho.2_Missense_Mutation_p.D47Y|JAK3_uc010xpx.1_Missense_Mutation_p.D47Y|JAK3_uc010xpy.1_Missense_Mutation_p.D47Y NM_000215 NP_000206 P52333 JAK3_HUMAN Janus kinase 3 47 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding haematopoietic_and_lymphoid_tissue(40)|lung(5)|breast(5)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1) 56 GCCAAGTGGTCCCCAAAGGAG 0.657 2 Mis acute megakaryocytic leukemia| 8 10 0.00448238 0.00485721 0.004482 1 0 MAST3 23031 broad.mit.edu 37 19 18235560 18235560 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:18235560G>T uc002nhz.3 + 10 967 c.967G>T c.(967-969)GGC>TGC p.G323C NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 323 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 TGGGCAGCTGGGCCTGGCCAA 0.532 NA 9 23 0.00829132 0.00890708 0.008291 1 0 MAST3 23031 broad.mit.edu 37 19 18235570 18235570 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:18235570A>T uc002nhz.3 + 10 977 c.977A>T c.(976-978)AAG>ATG p.K326M NM_015016 NP_055831 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 326 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity large_intestine(2)|ovary(2)|stomach(1) 5 GGCCTGGCCAAGGACCCCCTG 0.502 NA 11 25 0 0 0.010729 0 0 ZNF257 113835 broad.mit.edu 37 19 22271202 22271202 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:22271202C>A uc010ecx.2 + 4 819 c.650C>A c.(649-651)ACT>AAT p.T217N ZNF257_uc010ecy.2_Missense_Mutation_p.T185N NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 217 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) TCAGCTCTTACTCGACATAAG 0.388 NA 10 45 9.70103e-10 1.40001e-09 0.008291 1 0 ZNF98 148198 broad.mit.edu 37 19 22586258 22586258 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:22586258G>T uc002nqt.2 - 2 209 c.87C>A c.(85-87)TGC>TGA p.C29* NM_001098626 NP_001092096 A6NK75 ZNF98_HUMAN zinc finger protein 98 29 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) CGGTGTCCAGGCATTGCCACT 0.413 NA 49 72 1.89013e-27 3.50943e-27 0.00361 1 0 ZNF536 9745 broad.mit.edu 37 19 31040290 31040290 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:31040290C>A uc002nsu.1 + 4 3902 c.3764C>A c.(3763-3765)CCC>CAC p.P1255H ZNF536_uc010edd.1_Missense_Mutation_p.P1255H NM_014717 NP_055532 O15090 ZN536_HUMAN zinc finger protein 536 1255 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding ovary(7)|large_intestine(2)|skin(2) 11 Esophageal squamous(110;0.0834) GAGCGGGGGCCCCAGAGCCTG 0.597 NA 14 32 3.27435e-08 4.41789e-08 0.00245 1 0 SLC7A9 11136 broad.mit.edu 37 19 33355045 33355045 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:33355045C>A uc002ntv.3 - 4 552 c.435G>T c.(433-435)AAG>AAT p.K145N SLC7A9_uc002ntt.3_RNA|SLC7A9_uc002ntu.3_Missense_Mutation_p.K145N|SLC7A9_uc002ntw.3_5'UTR NM_001126335 NP_001119807 P82251 BAT1_HUMAN solute carrier family 7, member 9 145 Extracellular (Potential). blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding skin(1) 1 Esophageal squamous(110;0.137) L-Cystine(DB00138) TTTGAGGAGGCTTGCAGCCCA 0.592 GBM(181;1335 2108 9644 44178 46689) NA 8 35 0.00010058 0.000115213 0.001368 1 0 KIAA0355 9710 broad.mit.edu 37 19 34818678 34818678 + Silent SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:34818678A>T uc002nvd.3 + 5 1708 c.849A>T c.(847-849)GCA>GCT p.A283A NM_014686 NP_055501 O15063 K0355_HUMAN hypothetical protein LOC9710 283 ovary(1) 1 Esophageal squamous(110;0.162) ATTTCCAGGCATATAAGATAG 0.338 NA 14 34 0 0 0.003163 0 0 RYR1 6261 broad.mit.edu 37 19 38933001 38933001 + Missense_Mutation SNP G G A rs118192160 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:38933001G>A uc002oit.2 + 3 308 c.178G>A c.(178-180)GAT>AAT p.D60N RYR1_uc002oiu.2_Missense_Mutation_p.D60N NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 60 Cytoplasmic. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGTGCCCCCCGATCTGGCCAT 0.632 NA 18 97 0 0 0.007413 0 0 PHLDB3 653583 broad.mit.edu 37 19 44001416 44001416 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:44001416C>A uc002own.3 - 6 938 c.679G>T c.(679-681)GAT>TAT p.D227Y PHLDB3_uc010eit.2_5'Flank|PHLDB3_uc002owo.2_Missense_Mutation_p.D227Y NM_198850 NP_942147 Q6NSJ2 PHLB3_HUMAN pleckstrin homology-like domain, family B, 227 Potential. 0 Prostate(69;0.0153) TGGGCCACATCCAGTTGTTCC 0.378 NA 7 28 2.0095e-06 2.49483e-06 0.001984 1 0 IGLON5 402665 broad.mit.edu 37 19 51826942 51826942 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:51826942G>T uc002pwc.2 + 3 185 c.185G>T c.(184-186)CGC>CTC p.R62L NM_001101372 NP_001094842 A6NGN9 IGLO5_HUMAN IgLON family member 5 precursor 62 Ig-like C2-type 1. extracellular region 0 CACGTGACCCGCGTGGCCTGG 0.647 NA 12 34 7.03913e-09 9.75131e-09 0.001368 1 0 ZNF610 162963 broad.mit.edu 37 19 52869860 52869860 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:52869860G>T uc002pyx.3 + 6 1635 c.1229G>T c.(1228-1230)GGG>GTG p.G410V ZNF610_uc002pyy.3_Missense_Mutation_p.G410V|ZNF610_uc002pyz.3_Missense_Mutation_p.G367V|ZNF610_uc002pza.2_Missense_Mutation_p.G410V NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 410 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) AAAGTCTTTGGGCGCAAATTA 0.423 NA 7 35 0.00307968 0.00334304 0.00308 1 0 ZNF534 147658 broad.mit.edu 37 19 52937242 52937242 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:52937242T>G uc002pzk.2 + 2 111 c.50T>G c.(49-51)TTC>TGC p.F17C ZNF534_uc002pzj.1_Missense_Mutation_p.F17C|ZNF534_uc010epo.1_Missense_Mutation_p.F17C|ZNF534_uc002pzl.2_Missense_Mutation_p.F17C NM_001143939 NP_001137411 Q76KX8 ZN534_HUMAN zinc finger protein 534 isoform 2 17 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GCCATAGAATTCTCTCAGGAG 0.453 NA 27 64 0 0 0.005443 0 0 ZNF28 7576 broad.mit.edu 37 19 53304938 53304938 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:53304938T>C uc002qad.2 - 4 280 c.160A>G c.(160-162)ATG>GTG p.M54V ZNF28_uc002qac.2_Missense_Mutation_p.M1V|ZNF28_uc010eqe.2_5'UTR NM_006969 NP_008900 P17035 ZNF28_HUMAN zinc finger protein 28 54 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GTCTTCATCATGCATTTGGAA 0.363 NA 57 67 0 0 0.00361 0 0 NLRP12 91662 broad.mit.edu 37 19 54308698 54308698 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:54308698C>A uc002qch.3 - 5 2470 c.2250G>T c.(2248-2250)AAG>AAT p.K750N NLRP12_uc010eqw.2_Missense_Mutation_p.K33N|NLRP12_uc002qci.3_Missense_Mutation_p.K750N|NLRP12_uc002qcj.3_Missense_Mutation_p.K751N|NLRP12_uc002qck.3_RNA|NLRP12_uc010eqx.2_Missense_Mutation_p.K751N NM_144687 NP_653288 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 isoform 750 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding ovary(4)|upper_aerodigestive_tract(2)|lung(1) 7 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) TGCGGCACCTCTTCAGCCTGG 0.423 NA 15 75 4.93089e-13 7.7843e-13 0.00245 1 0 MYADM 91663 broad.mit.edu 37 19 54377348 54377348 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:54377348G>T uc002qcl.2 + 3 713 c.565G>T c.(565-567)GCG>TCG p.A189S MYADM_uc002qcm.2_Missense_Mutation_p.A189S|MYADM_uc002qcn.2_Missense_Mutation_p.A189S|MYADM_uc002qco.2_Missense_Mutation_p.A189S|MYADM_uc002qcp.2_Missense_Mutation_p.A189S NM_001020820 NP_001018656 Q96S97 MYADM_HUMAN myeloid-associated differentiation marker 189 MARVEL 2.|Helical; (Potential). integral to membrane ovary(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.0488) CATCATCTTCGCGTTCATCAG 0.652 NA 31 154 3.99451e-17 6.80708e-17 0.009535 1 0 LILRA1 11024 broad.mit.edu 37 19 55106637 55106637 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55106637A>G uc002qgh.1 + 5 613 c.431A>G c.(430-432)CAT>CGT p.H144R LILRA2_uc010yfg.1_Intron|LILRA1_uc010yfh.1_Missense_Mutation_p.H144R NM_006863 NP_006854 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, 144 Ig-like C2-type 2.|Extracellular (Potential). cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity skin(2)|ovary(1) 3 GBM - Glioblastoma multiforme(193;0.0348) GTGACCCTCCATTGTGTCTCA 0.542 NA 21 136 0 0 0.002299 0 0 KIR2DS4 3809 broad.mit.edu 37 19 55349047 55349047 + Silent SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55349047T>A uc002qhm.1 + 3 133 c.87T>A c.(85-87)CCT>CCA p.P29P KIR2DS4_uc010yfj.1_Silent_p.P22P|KIR2DS4_uc010yfk.1_RNA|KIR3DL1_uc002qhl.3_Intron|KIR2DS4_uc010esg.1_Silent_p.P29P|KIR2DS4_uc002qhn.1_5'UTR NM_012314 NP_036446 P43632 KI2S4_HUMAN killer cell immunoglobulin-like receptor, two 29 Extracellular (Potential). integral to plasma membrane receptor activity 0 GBM - Glioblastoma multiforme(193;0.0192) ACAGAAAACCTTCCTTCCTGG 0.502 NA 44 76 0 0 0.011902 0 0 NLRP7 199713 broad.mit.edu 37 19 55445885 55445885 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55445885G>A uc002qih.3 - 7 2519 c.2443C>T c.(2443-2445)CGC>TGC p.R815C NLRP7_uc002qig.3_Missense_Mutation_p.R787C|NLRP7_uc002qii.3_Missense_Mutation_p.R815C|NLRP7_uc010esk.2_Missense_Mutation_p.R815C|NLRP7_uc010esl.2_Missense_Mutation_p.R843C NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 815 ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) TGTTTTGGGCGTGTCATGGTC 0.517 NA 14 81 0 0 0.00245 0 0 NLRP7 199713 broad.mit.edu 37 19 55450993 55450993 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55450993G>T uc002qih.3 - 4 1270 c.1194C>A c.(1192-1194)CTC>CTA p.L398L NLRP7_uc002qig.3_Silent_p.L398L|NLRP7_uc002qii.3_Silent_p.L398L|NLRP7_uc010esk.2_Silent_p.L398L|NLRP7_uc010esl.2_Silent_p.L426L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 398 NACHT. L -> R (in HYDM). ATP binding p.L398L(1) large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) ACCGGCTGCAGAGGAAACGCA 0.692 NA 7 20 1.58986e-06 1.99374e-06 0.008291 1 0 NLRP7 199713 broad.mit.edu 37 19 55451569 55451569 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55451569G>T uc002qih.3 - 4 694 c.618C>A c.(616-618)TAC>TAA p.Y206* NLRP7_uc002qig.3_Nonsense_Mutation_p.Y206*|NLRP7_uc002qii.3_Nonsense_Mutation_p.Y206*|NLRP7_uc010esk.2_Nonsense_Mutation_p.Y206*|NLRP7_uc010esl.2_Nonsense_Mutation_p.Y234* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN NACHT, leucine rich repeat and PYD containing 7 206 NACHT. ATP binding large_intestine(1)|breast(1)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(193;0.0325) GGTAGAACGCGTATCTGAGCG 0.587 NA 32 58 1.39806e-14 2.27642e-14 0.008361 1 0 SAPS1 22870 broad.mit.edu 37 19 55751251 55751251 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:55751251C>A uc002qjw.3 - 13 1748 c.1506G>T c.(1504-1506)TGG>TGT p.W502C SAPS1_uc002qjv.2_Missense_Mutation_p.W564C NM_014931 NP_055746 Q9UPN7 PP6R1_HUMAN SAPS domain family, member 1 502 regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding 0 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0449) CGAAGGCTTCCCACTGCTCCT 0.632 NA 11 30 1.5842e-08 2.18003e-08 0.001855 1 0 U2AF2 11338 broad.mit.edu 37 19 56180848 56180848 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:56180848G>T uc002qlu.2 + 11 2138 c.1083G>T c.(1081-1083)CCG>CCT p.P361P U2AF2_uc002qlt.2_Silent_p.P357P NM_007279 NP_009210 P26368 U2AF2_HUMAN U2 (RNU2) small nuclear RNA auxiliary factor 2 361 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription nucleoplasm|spliceosomal complex enzyme binding|nucleotide binding|RNA binding ovary(1) 1 Colorectal(82;0.00244)|Ovarian(87;0.133) BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) TGCAAGTGCCGGGCTTGATGA 0.647 NA 4 31 0.00909568 0.00963801 0.009096 1 0 NLRP5 126206 broad.mit.edu 37 19 56538692 56538692 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:56538692G>A uc002qmj.2 + 7 1093 c.1093G>A c.(1093-1095)GAT>AAT p.D365N NLRP5_uc002qmi.2_Missense_Mutation_p.D346N NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 365 NACHT. mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TGACGGTTTCGATGACCTGGG 0.547 NA 4 21 0 0 0.009096 0 0 ZNF667 63934 broad.mit.edu 37 19 56953937 56953937 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:56953937G>T uc002qnd.2 - 5 589 c.427C>A c.(427-429)CCT>ACT p.P143T ZNF667_uc010etl.2_5'UTR|ZNF667_uc002qne.2_Missense_Mutation_p.P143T|ZNF667_uc010etm.2_Missense_Mutation_p.P86T NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) CATTTTAAAGGTTTCTTCCCT 0.378 NA 9 103 3.09899e-07 3.99083e-07 0.004482 1 0 ZIM2 23619 broad.mit.edu 37 19 57293363 57293363 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:57293363T>A uc002qnr.2 - 9 986 c.604A>T c.(604-606)AGG>TGG p.R202W uc010ygp.1_Intron|uc002qnp.1_Intron|ZIM2_uc010ygq.1_5'UTR|ZIM2_uc010ygr.1_5'UTR|ZIM2_uc002qnq.2_Missense_Mutation_p.R202W|ZIM2_uc010etp.2_Missense_Mutation_p.R202W|ZIM2_uc010ygs.1_Missense_Mutation_p.R202W NM_015363 NP_056178 Q9NZV7 ZIM2_HUMAN zinc finger, imprinted 2 202 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) ATCACCTCCCTGTAGAGGTTT 0.512 NA 12 105 0 0 0.001368 0 0 ZIM3 114026 broad.mit.edu 37 19 57647108 57647108 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:57647108G>C uc002qnz.1 - 5 983 c.597C>G c.(595-597)AGC>AGG p.S199R NM_052882 NP_443114 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 199 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1)|skin(1) 2 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTCTTCCACAGCTATGACATT 0.433 NA 37 134 0 0 0.00623 0 0 RNASEH1 246243 broad.mit.edu 37 2 3598004 3598004 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:3598004C>A uc002qxt.2 - 4 558 c.468G>T c.(466-468)CCG>CCT p.P156P RNASEH1_uc002qxs.2_Silent_p.P39P NM_002936 NP_002927 O60930 RNH1_HUMAN ribonuclease H1 156 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding ovary(1) 1 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) TTCCTGCTCGCGGCCTTCTAC 0.502 NA 47 116 3.39706e-21 6.17827e-21 0.00361 1 0 LPIN1 23175 broad.mit.edu 37 2 11943039 11943039 + Missense_Mutation SNP G G T rs145608684 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:11943039G>T uc010yjn.1 + 15 2059 c.1785G>T c.(1783-1785)AAG>AAT p.K595N LPIN1_uc010yjm.1_Missense_Mutation_p.K680N|LPIN1_uc002rbt.2_Missense_Mutation_p.K595N|LPIN1_uc010yjo.1_Missense_Mutation_p.K96N NM_145693 NP_663731 Q14693 LPIN1_HUMAN lipin 1 595 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) CCAGGGTAAAGCATGAATCAT 0.468 NA 7 252 1.26484e-09 1.81694e-09 0.00308 1 0 PLB1 151056 broad.mit.edu 37 2 28739673 28739673 + Splice_Site SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:28739673A>T uc002rmb.1 + 2 56 c.56_splice c.e2-2 p.G19_splice PLB1_uc010ezj.1_Splice_Site_p.G19_splice NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GCTTTCTTTCAGGGACCCCTC 0.488 NA 28 77 0 0 0.005443 0 0 PREPL 9581 broad.mit.edu 37 2 44548542 44548542 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:44548542C>A uc002ruf.2 - 14 2172 c.2137G>T c.(2137-2139)GAC>TAC p.D713Y PREPL_uc002rug.2_Missense_Mutation_p.D647Y|PREPL_uc002ruh.2_Missense_Mutation_p.D651Y|PREPL_uc010fax.2_Missense_Mutation_p.D713Y|PREPL_uc002rui.3_Missense_Mutation_p.D624Y|PREPL_uc002ruj.1_Missense_Mutation_p.D624Y|PREPL_uc002ruk.1_Missense_Mutation_p.D713Y NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 713 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) CTGGTGCTGTCAAGTCCAAGT 0.343 NA 7 27 0.00307968 0.00334304 0.00308 1 0 SRBD1 55133 broad.mit.edu 37 2 45616508 45616508 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:45616508C>A uc002rus.2 - 21 3005 c.2929G>T c.(2929-2931)GTA>TTA p.V977L SRBD1_uc010yoc.1_Missense_Mutation_p.V496L NM_018079 NP_060549 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 977 S1 motif. nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding central_nervous_system(1) 1 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) ATGTTGAGTACTTGGACTTCC 0.448 NA 18 52 1.00905e-13 1.6176e-13 0.008871 1 0 BCL11A 53335 broad.mit.edu 37 2 60688990 60688990 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:60688990G>T uc002sae.1 - 4 1285 c.1057C>A c.(1057-1059)CCC>ACC p.P353T BCL11A_uc002sab.2_Missense_Mutation_p.P353T|BCL11A_uc002sac.2_Intron|BCL11A_uc010ypi.1_Intron|BCL11A_uc010ypj.1_Missense_Mutation_p.P319T|BCL11A_uc002sad.1_Missense_Mutation_p.P201T|BCL11A_uc002saf.1_Missense_Mutation_p.P319T NM_022893 NP_075044 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A isoform 1 353 Pro-rich. negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|cytoplasm|nucleus|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding central_nervous_system(6)|breast(3)|ovary(2)|skin(2) 13 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GCCAGGAAGGGCGGCTTGCTA 0.647 NA T IGH@ B-CLL 21 87 1.28384e-07 1.68826e-07 0.012319 1 0 USP34 9736 broad.mit.edu 37 2 61575333 61575333 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:61575333T>C uc002sbe.2 - 15 1979 c.1957A>G c.(1957-1959)ATT>GTT p.I653V NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN ubiquitin specific protease 34 653 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity ovary(8)|breast(5)|skin(3)|lung(2)|prostate(1) 19 Epithelial(17;0.229) CCCAGGCAAATGCCTGCTTGA 0.458 NA 6 41 0 0 0.001168 0 0 NAGK 55577 broad.mit.edu 37 2 71300684 71300684 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:71300684A>G uc002shp.3 + 6 945 c.539A>G c.(538-540)GAT>GGT p.D180G NAGK_uc010fea.2_RNA|NAGK_uc002shq.3_Missense_Mutation_p.D31G|NAGK_uc002shr.2_Missense_Mutation_p.D129G NM_017567 NP_060037 Q9UJ70 NAGK_HUMAN N-Acetylglucosamine kinase 180 N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process ATP binding|N-acetylglucosamine kinase activity|protein binding 0 N-Acetyl-D-glucosamine(DB00141) GCTCCTCATGATATCGGCTAC 0.522 NA 76 253 0 0 0.00361 0 0 DYSF 8291 broad.mit.edu 37 2 71886086 71886086 + Nonsense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:71886086C>T uc002sie.2 + 43 5093 c.4717C>T c.(4717-4719)CAG>TAG p.Q1573* DYSF_uc010feg.2_Nonsense_Mutation_p.Q1604*|DYSF_uc010feh.2_Nonsense_Mutation_p.Q1580*|DYSF_uc002sig.3_Nonsense_Mutation_p.Q1559*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.Q1594*|DYSF_uc010fef.2_Nonsense_Mutation_p.Q1611*|DYSF_uc010fei.2_Nonsense_Mutation_p.Q1590*|DYSF_uc010fek.2_Nonsense_Mutation_p.Q1591*|DYSF_uc010fej.2_Nonsense_Mutation_p.Q1581*|DYSF_uc010fel.2_Nonsense_Mutation_p.Q1560*|DYSF_uc010feo.2_Nonsense_Mutation_p.Q1605*|DYSF_uc010fem.2_Nonsense_Mutation_p.Q1595*|DYSF_uc010fen.2_Nonsense_Mutation_p.Q1612*|DYSF_uc002sif.2_Nonsense_Mutation_p.Q1574*|DYSF_uc010yqy.1_Nonsense_Mutation_p.Q454*|DYSF_uc010yqz.1_Nonsense_Mutation_p.Q334* NM_003494 NP_003485 O75923 DYSF_HUMAN dysferlin isoform 8 1573 Cytoplasmic (Potential).|C2 5. cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding ovary(3)|breast(2)|pancreas(1)|skin(1) 7 GCTGGCCGCCCAGGGACCCCA 0.557 NA 28 118 0 0 0.009535 0 0 TET3 200424 broad.mit.edu 37 2 74307667 74307667 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:74307667C>T uc002skb.3 + 3 2223 c.2223C>T c.(2221-2223)ATC>ATT p.I741I NM_144993 NP_659430 O43151 TET3_HUMAN tet oncogene family member 3 741 metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 AGAAGGTCATCTACACGGGGA 0.557 NA 5 26 0 0 0.001168 0 0 REG1B 5968 broad.mit.edu 37 2 79314699 79314699 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79314699G>T uc002sny.2 - 2 152 c.40C>A c.(40-42)CTG>ATG p.L14M REG1B_uc010ffv.1_Missense_Mutation_p.L14M|REG1B_uc010ffw.2_Missense_Mutation_p.L14M NM_006507 NP_006498 P48304 REG1B_HUMAN regenerating islet-derived 1 beta precursor 14 cell proliferation extracellular region sugar binding central_nervous_system(1)|skin(1) 2 AGGAACATCAGGGAGGAGATC 0.483 NA 6 21 0.00116845 0.0012886 0.001168 1 0 REG1A 5967 broad.mit.edu 37 2 79348739 79348739 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79348739G>A uc002snz.2 + 3 219 c.116G>A c.(115-117)GGC>GAC p.G39D REG1A_uc010ffx.1_Missense_Mutation_p.G39D|REG1A_uc010ysd.1_Missense_Mutation_p.G39D NM_002909 NP_002900 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha precursor 39 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding 0 TGCCCAGAAGGCACCAATGCC 0.532 NA 83 194 0 0 0.00361 0 0 REG3A 5068 broad.mit.edu 37 2 79386464 79386464 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79386464T>A uc002sod.1 - 1 323 c.68A>T c.(67-69)CAG>CTG p.Q23L REG3A_uc002soe.1_Missense_Mutation_p.Q23L|REG3A_uc002sof.1_Missense_Mutation_p.Q23L NM_138938 NP_620355 Q06141 REG3A_HUMAN pancreatitis-associated protein precursor 23 acute-phase response|cell proliferation|heterophilic cell-cell adhesion|multicellular organismal development cytoplasm|extracellular space|soluble fraction sugar binding skin(1) 1 ACCTTGAACCTGAGACAGCAG 0.527 NA 11 38 0 0 0.008291 0 0 RAB6C 84084 broad.mit.edu 37 2 130738066 130738066 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:130738066T>C uc002tpx.1 + 1 832 c.378T>C c.(376-378)AAT>AAC p.N126N uc002tpw.1_5'Flank NM_032144 NP_115520 Q9H0N0 RAB6C_HUMAN RAB6C, member RAS oncogene family 126 GTP (By similarity). protein transport|response to drug|small GTPase mediated signal transduction GTP binding|GTPase activity lung(1) 1 Colorectal(110;0.1) TAGTAGGAAATAGAACAGATC 0.413 NA 73 168 0 0 0.00361 0 0 NCKAP5 344148 broad.mit.edu 37 2 133541593 133541593 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:133541593G>A uc002ttp.2 - 14 3165 c.2791C>T c.(2791-2793)CCC>TCC p.P931S NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 931 Poly-Pro. PP -> QS (in Ref. 5; BAA22433). protein binding 0 CCTGGAGGGGGCGGAGGGGAA 0.622 NA 4 30 0 0 0.009096 0 0 LRP1B 53353 broad.mit.edu 37 2 141806654 141806654 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:141806654G>A uc002tvj.1 - 11 2662 c.1690C>T c.(1690-1692)CAC>TAC p.H564Y LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 564 Extracellular (Potential). protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GTTTCTGCGTGAAAGTCTAAA 0.438 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 8 111 0 0 0.006214 0 0 LRP1B 53353 broad.mit.edu 37 2 142238100 142238100 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:142238100G>T uc002tvj.1 - 3 1180 c.208C>A c.(208-210)CCC>ACC p.P70T LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 70 Extracellular (Potential).|LDL-receptor class A 1. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) ACCTCCTCGGGACCTGAAAAG 0.373 Colon(99;50 2074 2507 20106) NA TSP Lung(27;0.18) 7 22 2.7689e-08 3.76038e-08 0.001984 1 0 ERMN 57471 broad.mit.edu 37 2 158178139 158178139 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:158178139G>T uc002tzh.2 - 3 761 c.499C>A c.(499-501)CAA>AAA p.Q167K ERMN_uc010zcj.1_Missense_Mutation_p.Q61K|ERMN_uc010zck.1_Missense_Mutation_p.Q147K|ERMN_uc002tzi.2_Missense_Mutation_p.Q180K NM_020711 NP_065762 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein isoform b 167 cytoplasm|cytoskeleton ovary(1)|skin(1) 2 ATGTCAGCTTGGCTAGGTTTT 0.348 NA 43 66 8.20599e-20 1.47518e-19 0.011902 1 0 ACVR1 90 broad.mit.edu 37 2 158656003 158656003 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:158656003C>A uc002tzm.3 - 4 342 c.3G>T c.(1-3)ATG>ATT p.M1I ACVR1_uc002tzn.3_Missense_Mutation_p.M1I|ACVR1_uc010fog.2_Missense_Mutation_p.M1I NM_001111067 NP_001104537 Q04771 ACVR1_HUMAN activin A receptor, type I precursor 1 BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway activin receptor complex activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding ovary(2)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(221;0.104) Adenosine triphosphate(DB00171) CTCCATCTACCATTGTACAAC 0.383 NA 10 27 0.00136819 0.00150356 0.001368 1 0 LY75 4065 broad.mit.edu 37 2 160673472 160673472 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:160673472T>C uc002ubc.3 - 30 4294 c.4225A>G c.(4225-4227)ATT>GTT p.I1409V LY75_uc002ubb.3_Missense_Mutation_p.I1409V|LY75_uc010fos.2_Missense_Mutation_p.I1409V NM_002349 NP_002340 O60449 LY75_HUMAN lymphocyte antigen 75 precursor 1409 Extracellular (Potential).|C-type lectin 9. endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding 0 COAD - Colon adenocarcinoma(177;0.132) TTTTTTTGAATAACACTGTAA 0.353 NA 26 26 0 0 0.003954 0 0 PLA2R1 22925 broad.mit.edu 37 2 160833814 160833814 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:160833814C>A uc002ube.1 - 15 2589 c.2382G>T c.(2380-2382)TGG>TGT p.W794C PLA2R1_uc010zcp.1_Missense_Mutation_p.W794C|PLA2R1_uc002ubf.2_Missense_Mutation_p.W794C NM_007366 NP_031392 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1 isoform 1 precursor 794 Extracellular (Potential).|C-type lectin 4. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding skin(2)|ovary(1) 3 TTTTGCATATCCATTCACGTT 0.348 NA 14 26 2.61681e-11 3.92207e-11 0.00245 1 0 TTN 7273 broad.mit.edu 37 2 179412568 179412568 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:179412568A>T uc010zfg.1 - 288 86305 c.86081T>A c.(86080-86082)GTG>GAG p.V28694E uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V22389E|TTN_uc010zfi.1_Missense_Mutation_p.V22322E|TTN_uc010zfj.1_Missense_Mutation_p.V22197E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 29621 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) TGTAATGCTCACTCGATCTGT 0.453 NA 6 47 0 0 0.001168 0 0 TTN 7273 broad.mit.edu 37 2 179598167 179598167 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:179598167C>T uc010zfg.1 - 51 12345 c.12121G>A c.(12121-12123)GCA>ACA p.A4041T TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A702T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 4968 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) GGCGTGCCTGCCACTGTGTAC 0.468 NA 7 195 0 0 0.004482 0 0 ITGA4 3676 broad.mit.edu 37 2 182399575 182399575 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:182399575C>G uc002unu.2 + 27 3679 c.2916C>G c.(2914-2916)CCC>CCG p.P972P ITGA4_uc002unv.2_Silent_p.P217P NM_000885 NP_000876 P13612 ITA4_HUMAN integrin alpha 4 precursor 972 Extracellular (Potential). blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity ovary(3)|lung(1)|central_nervous_system(1)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) ATCAAAGACCCAAACGTTATT 0.313 NA 4 35 0 0 0.009096 0 0 IGFBP5 3488 broad.mit.edu 37 2 217541567 217541567 + Nonsense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:217541567C>T uc002vgj.3 - 4 1500 c.726G>A c.(724-726)TGG>TGA p.W242* NM_000599 NP_000590 P24593 IBP5_HUMAN insulin-like growth factor binding protein 5 242 Thyroglobulin type-1. negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction insulin-like growth factor I binding 0 Renal(323;0.0822) Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGTCCACGCACCAGCAGATGC 0.617 NA 5 129 0 0 0.001168 0 0 SP100 6672 broad.mit.edu 37 2 231308915 231308915 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:231308915A>T uc002vqt.2 + 4 434 c.293A>T c.(292-294)AAC>ATC p.N98I SP100_uc002vqs.2_Missense_Mutation_p.N98I|SP100_uc002vqu.1_Missense_Mutation_p.N98I|SP100_uc010zmb.1_Missense_Mutation_p.N98I|SP100_uc002vqq.1_Missense_Mutation_p.N98I|SP100_uc002vqr.1_Missense_Mutation_p.N73I|SP100_uc010zmc.1_Missense_Mutation_p.N73I|SP100_uc002vqv.1_Missense_Mutation_p.N62I NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 98 HSR. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) TCTTGTAGAAACCTGGTCCCT 0.383 NA 11 60 0 0 0.010729 0 0 CHRNG 1146 broad.mit.edu 37 2 233406084 233406084 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:233406084C>A uc002vsx.1 + 5 372 c.351C>A c.(349-351)AAC>AAA p.N117K CHRNG_uc010fyd.2_Missense_Mutation_p.N117K|CHRNG_uc010fye.1_Intron NM_005199 NP_005190 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma 117 Extracellular (Potential). muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity 0 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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) GTGCATACAGCGTGGACGGTG 0.657 NA 13 107 7.03913e-09 9.75131e-09 0.001368 1 0 UGT1A9 54600 broad.mit.edu 37 2 234580712 234580712 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:234580712G>T uc002vus.2 + 1 169 c.132G>T c.(130-132)GTG>GTT p.V44V UGT1A8_uc010zmv.1_Intron|UGT1A8_uc002vup.2_Intron|UGT1A10_uc002vuq.3_Intron|UGT1A10_uc002vur.2_Intron|UGT1A9_uc010zmw.1_Silent_p.V44V NM_021027 NP_066307 O60656 UD19_HUMAN UDP glycosyltransferase 1 family, polypeptide A9 44 drug metabolic process|flavone metabolic process|negative regulation of fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding ovary(3)|breast(1)|skin(1) 5 Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128) Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757) Entacapone(DB00494)|Etodolac(DB00749)|Indomethacin(DB00328)|Irinotecan(DB00762)|Mycophenolic acid(DB01024)|Oxyphenonium(DB00219)|Propofol(DB00818)|Sorafenib(DB00398) TGAGGTCGGTGGTGGAGAAAC 0.532 NA 14 67 7.93312e-07 1.00908e-06 0.00245 1 0 COL6A3 1293 broad.mit.edu 37 2 238275811 238275811 + Silent SNP G G T rs140516220 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:238275811G>T uc002vwl.2 - 11 5304 c.5019C>A c.(5017-5019)GGC>GGA p.G1673G COL6A3_uc002vwo.2_Silent_p.G1467G|COL6A3_uc010znj.1_Silent_p.G1066G NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1673 VWFA 9.|Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGATGGAGTCGCCATCTTCAT 0.473 NA 9 25 2.17888e-05 2.58145e-05 0.006214 1 0 SLC23A2 9962 broad.mit.edu 37 20 4842670 4842670 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:4842670G>T uc002wlg.1 - 15 1923 c.1548C>A c.(1546-1548)AAC>AAA p.N516K SLC23A2_uc010zqr.1_Missense_Mutation_p.N401K|SLC23A2_uc002wlh.1_Missense_Mutation_p.N516K NM_005116 NP_005107 Q9UGH3 S23A2_HUMAN solute carrier family 23 (nucleobase 516 Helical; (Potential). L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity ovary(2) 2 GCACAAAGAGGTTCCGGGAAG 0.468 NA 12 33 1.08611e-07 1.43736e-07 0.010729 1 0 CST3 1471 broad.mit.edu 37 20 23614635 23614635 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:23614635T>A uc002wtm.2 - 3 434 c.359A>T c.(358-360)AAA>ATA p.K120I CST3_uc002wtn.1_Missense_Mutation_p.K120I NM_000099 NP_000090 P01034 CYTC_HUMAN cystatin C precursor 120 defense response|fibril organization|negative regulation of blood vessel remodeling|negative regulation of collagen catabolic process|negative regulation of elastin catabolic process|negative regulation of extracellular matrix disassembly extracellular space beta-amyloid binding|cysteine-type endopeptidase inhibitor activity|protease binding ovary(1) 1 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GCAGAATGCTTTCTGTGAAAG 0.537 NA 16 53 0 0 0.004007 0 0 VSX1 30813 broad.mit.edu 37 20 25056973 25056973 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:25056973G>T uc002wuf.2 - 5 1057 c.1022C>A c.(1021-1023)CCT>CAT p.P341H VSX1_uc002wue.2_Intron|VSX1_uc010gdd.1_Intron|VSX1_uc010gde.1_Intron|VSX1_uc010gdf.1_Intron NM_014588 NP_055403 Q9NZR4 VSX1_HUMAN visual system homeobox 1 isoform a 341 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 ACCAGCCCCAGGGTGCACTTT 0.597 NA 12 58 5.16669e-11 7.68823e-11 0.010729 1 0 FRG1B 284802 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:29628263A>G uc010ztl.1 + 3 207 c.175A>G c.(175-177)ATT>GTT p.I59V FRG1B_uc002wvm.1_RNA|FRG1B_uc010ztj.1_RNA|FRG1B_uc010gdr.1_RNA|FRG1B_uc010ztk.1_Missense_Mutation_p.I11V Homo sapiens cDNA FLJ32537 fis, clone SMINT2000400, highly similar to Homo sapiens FRG1 mRNA. 0 TAGCTGCTTTATTAGATGCAA 0.363 NA 3 67 0 0 0.000602 0 0 PTPRT 11122 broad.mit.edu 37 20 40980762 40980762 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:40980762C>A uc002xkg.2 - 10 1908 c.1724G>T c.(1723-1725)GGG>GTG p.G575V PTPRT_uc010ggj.2_Missense_Mutation_p.G575V NM_007050 NP_008981 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 575 Extracellular (Potential).|Fibronectin type-III 3. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity skin(8)|ovary(7)|lung(5) 20 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) GACAGGGGGCCCAAAGCCCTT 0.502 NA 19 66 7.21436e-19 1.26761e-18 0.008871 1 0 PREX1 57580 broad.mit.edu 37 20 47361667 47361667 + Missense_Mutation SNP G G C rs141887028 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:47361667G>C uc002xtw.1 - 3 332 c.309C>G c.(307-309)ATC>ATG p.I103M NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 103 DH. actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) GGATGTCTTCGATGTTCGAGA 0.483 NA 4 204 0 0 0.000602 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870553 51870553 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:51870553G>T uc002xwo.2 + 2 1512 c.556G>T c.(556-558)GTC>TTC p.V186F NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 186 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) TTCTCGGTCCGTCTCGAAACC 0.557 NA 13 60 9.05144e-12 1.37653e-11 0.001855 1 0 DIDO1 11083 broad.mit.edu 37 20 61513243 61513243 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:61513243C>A uc002ydr.1 - 16 4329 c.4065G>T c.(4063-4065)CCG>CCT p.P1355P DIDO1_uc002yds.1_Silent_p.P1355P NM_033081 NP_149072 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 isoform c 1355 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding ovary(3)|skin(3) 6 Breast(26;5.68e-08) ACGGAGGTGCCGGCACCCCGT 0.587 Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095) NA 50 120 1.47857e-17 2.54053e-17 0.00361 1 0 GRIK1 2897 broad.mit.edu 37 21 30953768 30953768 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:30953768C>A uc002yno.1 - 13 2353 c.1889G>T c.(1888-1890)GGA>GTA p.G630V GRIK1_uc002ynn.2_Missense_Mutation_p.G615V|GRIK1_uc011acs.1_Missense_Mutation_p.G630V|GRIK1_uc011act.1_Missense_Mutation_p.G491V|GRIK1_uc010glq.1_Missense_Mutation_p.G473V NM_000830 NP_000821 P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 630 Cytoplasmic (Potential). central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity large_intestine(1)|ovary(1)|skin(1) 3 L-Glutamic Acid(DB00142)|Topiramate(DB00273) AGCTCCAACTCCAAACCAGAA 0.483 NA 43 36 1.7489e-18 3.05567e-18 0.011902 1 0 KRTAP19-7 337974 broad.mit.edu 37 21 31933445 31933445 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:31933445C>A uc011adb.1 - 1 164 c.164G>T c.(163-165)GGG>GTG p.G55V NM_181614 NP_853645 Q3SYF9 KR197_HUMAN keratin associated protein 19-7 55 intermediate filament 0 CCAGTATCCCCCATAGCATGA 0.453 NA 140 89 5.62954e-76 1.09083e-75 0.00361 1 0 KRTAP6-2 337967 broad.mit.edu 37 21 31971160 31971160 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:31971160C>A uc011adc.1 - 1 34 c.34G>T c.(34-36)GAC>TAC p.D12Y KRTAP22-1_uc011add.1_5'Flank NM_181604 NP_853635 Q3LI66 KRA62_HUMAN keratin associated protein 6-2 12 intermediate filament 0 TAGCCATGGTCGCCGTAGTAG 0.542 NA 102 56 3.52173e-36 6.63792e-36 0.00361 1 0 OLIG2 10215 broad.mit.edu 37 21 34399437 34399437 + Silent SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:34399437G>C uc002yqx.1 + 2 425 c.267G>C c.(265-267)GCG>GCC p.A89A NM_005806 NP_005797 Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 89 cytoplasm|nucleus|plasma membrane DNA binding central_nervous_system(2) 2 CGTCGTCGGCGGCTGCGTCGT 0.632 NA T TRA@ T-ALL 6 10 0 0 0.001168 0 0 DSCAM 1826 broad.mit.edu 37 21 41459132 41459132 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:41459132C>A uc002yyq.1 - 22 4385 c.3933G>T c.(3931-3933)GGG>GGT p.G1311G DSCAM_uc002yyr.1_RNA NM_001389 NP_001380 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule isoform 1311 Extracellular (Potential).|Ig-like C2-type 10. 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) GAGAAGGGTCCCCAACAGCCT 0.468 Melanoma(134;970 1778 1785 21664 32388) NA 8 95 1.12685e-05 1.36628e-05 0.004482 1 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047279 46047279 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:46047279C>T uc002zfp.3 + 1 240 c.191C>T c.(190-192)CCC>CTC p.P64L C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198690 NP_941963 P60411 KR109_HUMAN keratin associated protein 10-9 64 25 X 5 AA repeats of C-C-X(3). keratin filament 0 ACCTGTGAGCCCAGCCCCTGC 0.657 NA 23 142 0 0 0.00278 0 0 DIP2A 23181 broad.mit.edu 37 21 47929244 47929244 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:47929244C>T uc002zjo.2 + 7 1042 c.859C>T c.(859-861)CCA>TCA p.P287S DIP2A_uc011afy.1_Missense_Mutation_p.P223S|DIP2A_uc011afz.1_Missense_Mutation_p.P287S|DIP2A_uc002zjl.2_Missense_Mutation_p.P287S|DIP2A_uc002zjm.2_Missense_Mutation_p.P287S|DIP2A_uc010gql.2_Missense_Mutation_p.P244S|DIP2A_uc002zjn.2_Missense_Mutation_p.P287S|DIP2A_uc002zjp.1_Missense_Mutation_p.P32S NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 287 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) AAAGCGCCCTCCACTGAAGGA 0.493 NA 44 85 0 0 0.00361 0 0 PRAME 23532 broad.mit.edu 37 22 22893340 22893340 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:22893340G>T uc002zwf.2 - 3 349 c.193C>A c.(193-195)CAC>AAC p.H65N LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.H49N|PRAME_uc010gtr.2_Missense_Mutation_p.H65N|PRAME_uc002zwg.2_Missense_Mutation_p.H65N|PRAME_uc002zwh.2_Missense_Mutation_p.H65N|PRAME_uc002zwi.2_Missense_Mutation_p.H65N|PRAME_uc002zwj.2_Missense_Mutation_p.H65N|PRAME_uc002zwk.2_Missense_Mutation_p.H65N NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 65 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) GTCTGGCTGTGTCTCCCGTCA 0.612 Melanoma(73;1707 1838 15168 27201) NA 17 89 2.39187e-15 3.95677e-15 0.008871 1 0 APOL3 80833 broad.mit.edu 37 22 36537770 36537770 + Silent SNP C C A rs146525352 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:36537770C>A uc003aot.2 - 3 725 c.687G>T c.(685-687)GCG>GCT p.A229A APOL3_uc003aoq.2_Silent_p.A158A|APOL3_uc003aor.2_Silent_p.A158A|APOL3_uc003aos.2_Silent_p.A158A|APOL3_uc003aou.2_Silent_p.A29A|APOL3_uc003aov.2_Silent_p.A29A NM_145640 NP_663615 O95236 APOL3_HUMAN apolipoprotein L3 isoform 1 229 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity 0 TCACAGCAGACGCTGCTCCCA 0.567 NA 3 29 0.00909568 0.00963801 0.009096 1 0 CACNG2 10369 broad.mit.edu 37 22 37098411 37098411 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:37098411C>T uc003aps.1 - 1 493 c.211G>A c.(211-213)GGG>AGG p.G71R uc003apt.1_5'Flank NM_006078 NP_006069 Q9Y698 CCG2_HUMAN voltage-dependent calcium channel gamma-2 71 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity 0 AGTCAAGTACCTTCTAGGCAG 0.299 NA 18 55 0 0 0.006122 0 0 MFNG 4242 broad.mit.edu 37 22 37882095 37882095 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:37882095G>C uc003ass.1 - 1 291 c.121C>G c.(121-123)CTG>GTG p.L41V MFNG_uc011ani.1_5'UTR|MFNG_uc011anj.1_Missense_Mutation_p.L41V|CARD10_uc003ast.1_Intron NM_002405 NP_002396 O00587 MFNG_HUMAN O-fucosylpeptide 41 Lumenal (Potential). pattern specification process extracellular space|integral to Golgi membrane O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity lung(1) 1 Melanoma(58;0.0574) GGCTGGCTCAGCTCGGGGGTC 0.652 NA 10 36 0 0 0.001368 0 0 ACO2 50 broad.mit.edu 37 22 41895792 41895792 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:41895792G>T uc003bac.2 + 2 121 c.99G>T c.(97-99)GCG>GCT p.A33A ACO2_uc003bad.2_Silent_p.A33A NM_001098 NP_001089 Q99798 ACON_HUMAN aconitase 2, mitochondrial precursor 33 citrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity breast(2)|ovary(1)|lung(1) 4 CCAAGGTGGCGATGAGCCACT 0.522 NA 49 255 2.64894e-19 4.6808e-19 0.00361 1 0 FAM118A 55007 broad.mit.edu 37 22 45726535 45726535 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:45726535G>C uc003bfz.3 + 6 1190 c.574G>C c.(574-576)GGC>CGC p.G192R FAM118A_uc003bga.3_Missense_Mutation_p.G192R|FAM118A_uc011aqr.1_Missense_Mutation_p.G10R NM_001104595 NP_001098065 Q9NWS6 F118A_HUMAN hypothetical protein LOC55007 192 integral to membrane 0 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178) CCACATTCACGGCCTCTACAC 0.522 NA 10 33 0 0 0.006214 0 0 CHL1 10752 broad.mit.edu 37 3 447382 447382 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:447382C>A uc003bou.2 + 27 3886 c.3615C>A c.(3613-3615)CCC>CCA p.P1205P CHL1_uc003bot.2_Silent_p.P1221P|CHL1_uc011asi.1_Silent_p.P1168P NM_006614 NP_006605 O00533 CHL1_HUMAN cell adhesion molecule with homology to L1CAM 1205 Cytoplasmic (Potential). axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix skin(5)|central_nervous_system(4)|large_intestine(2)|ovary(1) 12 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAACTTTTCCCCTTCGGGCAT 0.418 NA 9 20 0.000274275 0.000308498 0.004482 1 0 TTLL3 26140 broad.mit.edu 37 3 9877118 9877118 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:9877118G>A uc003btg.2 + 13 2480 c.2264G>A c.(2263-2265)GGG>GAG p.G755E ARPC4_uc003btc.1_Intron NM_001025930 NP_001021100 Q9Y4R7 TTLL3_HUMAN tubulin tyrosine ligase-like family, member 3 755 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) GCTGTTGGAGGGTCAAGAGTG 0.567 NA 16 135 0 0 0.004007 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067189 11067189 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:11067189C>A uc010hdq.2 + 8 1180 c.769C>A c.(769-771)CGT>AGT p.R257S NM_003042 NP_003033 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter 257 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity ovary(1)|skin(1) 2 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCTGTTCTTCCGTGGAGTGAC 0.587 NA 8 40 0.000442599 0.000496926 0.006214 1 0 FGD5 152273 broad.mit.edu 37 3 14861743 14861743 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:14861743A>T uc003bzc.2 + 1 1275 c.1165A>T c.(1165-1167)ATG>TTG p.M389L FGD5_uc011avk.1_Missense_Mutation_p.M389L NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 389 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding ovary(3)|kidney(1)|pancreas(1) 5 GGAGAACCCCATGGTGGGGGC 0.607 NA 9 49 0 0 0.006214 0 0 KCNH8 131096 broad.mit.edu 37 3 19575056 19575056 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:19575056C>A uc003cbk.1 + 16 2984 c.2789C>A c.(2788-2790)GCA>GAA p.A930E KCNH8_uc010hex.1_Missense_Mutation_p.A391E NM_144633 NP_653234 Q96L42 KCNH8_HUMAN potassium voltage-gated channel, subfamily H, 930 Cytoplasmic (Potential). integral to membrane two-component sensor activity lung(4)|ovary(1) 5 AGCTGGAGTGCACACCAGCCT 0.527 NSCLC(124;1625 1765 8018 24930 42026) NA 4 76 0.00909568 0.00963801 0.009096 1 0 PTPN23 25930 broad.mit.edu 37 3 47450286 47450286 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:47450286G>A uc003crf.1 + 16 1447 c.1351G>A c.(1351-1353)GAT>AAT p.D451N PTPN23_uc011baw.1_Missense_Mutation_p.D416N|PTPN23_uc011bax.1_RNA|PTPN23_uc011bay.1_Missense_Mutation_p.D321N NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 451 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|skin(1) 3 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTGTTCACGGATGTGGAGGC 0.612 NA 23 85 0 0 0.00278 0 0 C3orf54 389119 broad.mit.edu 37 3 49841780 49841780 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:49841780T>A uc003cxq.1 + 2 357 c.224T>A c.(223-225)GTG>GAG p.V75E NM_203370 NP_976248 Q96EL1 CC054_HUMAN hypothetical protein LOC389119 73 0 BRCA - Breast invasive adenocarcinoma(193;3.55e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) gaggaAGCAGTGGTGACAGAA 0.542 NA 16 46 0 0 0.003163 0 0 GRM2 2912 broad.mit.edu 37 3 51746673 51746673 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:51746673C>A uc010hlv.2 + 3 874 c.635C>A c.(634-636)TCT>TAT p.S212Y GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 212 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) ACTGTGGCGTCTGAGGGCGAC 0.582 NA 20 57 2.4624e-09 3.48093e-09 0.008871 1 0 ITIH3 3699 broad.mit.edu 37 3 52840398 52840398 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:52840398C>A uc003dfv.2 + 18 2068 c.2032C>A c.(2032-2034)CGC>AGC p.R678S ITIH3_uc011bek.1_Intron NM_002217 NP_002208 Q06033 ITIH3_HUMAN inter-alpha (globulin) inhibitor H3 678 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|liver(1) 3 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CACAGTGCTGCGCCTTATTCA 0.612 NA 13 30 9.16793e-09 1.2644e-08 0.00499 1 0 ADAMTS9 56999 broad.mit.edu 37 3 64617141 64617141 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:64617141G>T uc003dmg.2 - 16 2411 c.2379C>A c.(2377-2379)GAC>GAA p.D793E ADAMTS9_uc011bfo.1_Missense_Mutation_p.D765E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.D622E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.D793E NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 793 Spacer. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|urinary_tract(1)|skin(1) 4 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) CTAAGTAGTTGTCATCGTCTG 0.483 NA 6 108 8.12818e-05 9.34516e-05 0.001984 1 0 HTR1F 3355 broad.mit.edu 37 3 88040418 88040418 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:88040418C>G uc003dqr.2 + 2 677 c.519C>G c.(517-519)ATC>ATG p.I173M NM_000866 NP_000857 P30939 5HT1F_HUMAN 5-hydroxytryptamine (serotonin) receptor 1F 173 Extracellular (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane serotonin binding|serotonin receptor activity ovary(3) 3 all_cancers(8;0.147) Lung NSC(201;0.0283) LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664) Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315) ATGAATGCATCATCAAGCACG 0.378 NA 7 42 0 0 0.001984 0 0 PROS1 5627 broad.mit.edu 37 3 93619740 93619740 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:93619740C>A uc003drb.3 - 7 976 c.635G>T c.(634-636)TGT>TTT p.C212F PROS1_uc010hoo.2_Missense_Mutation_p.C81F|PROS1_uc003dqz.3_Missense_Mutation_p.C81F NM_000313 NP_000304 P07225 PROS_HUMAN protein S, alpha preproprotein 212 EGF-like 3; calcium-binding (Potential). leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity large_intestine(1) 1 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) AGCTGTGCCACAAATGCTTGG 0.388 NA 6 35 8.12818e-05 9.34516e-05 0.001984 1 0 MINA 84864 broad.mit.edu 37 3 97686352 97686352 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:97686352C>A uc003drz.1 - 2 592 c.86G>T c.(85-87)GGG>GTG p.G29V MINA_uc003dsa.1_Missense_Mutation_p.G29V|MINA_uc003dsb.1_Missense_Mutation_p.G29V|MINA_uc003dsc.1_Missense_Mutation_p.G29V|MINA_uc010hpa.1_RNA|MINA_uc010hpb.1_Intron NM_001042533 NP_001035998 Q8IUF8 MINA_HUMAN MYC induced nuclear antigen isoform a 29 ribosome biogenesis cytoplasm|nucleolus ovary(1) 1 AGCTGAAGGCCCCCCAGCTGC 0.483 NA 10 51 2.17888e-05 2.58145e-05 0.006214 1 0 TIGIT 201633 broad.mit.edu 37 3 114014612 114014612 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:114014612C>T uc003ebg.1 + 2 316 c.282C>T c.(280-282)ACC>ACT p.T94T NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 94 Extracellular (Potential).|Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 TGGGCCTCACCCTCCAGTCGC 0.577 NA 14 50 0 0 0.001855 0 0 FBXO40 51725 broad.mit.edu 37 3 121341270 121341270 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:121341270A>G uc003eeg.2 + 3 1204 c.994A>G c.(994-996)AGA>GGA p.R332G NM_016298 NP_057382 Q9UH90 FBX40_HUMAN F-box protein 40 332 muscle cell differentiation centrosome|nucleus ubiquitin-protein ligase activity|zinc ion binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(114;0.189) ACCCAAGGAGAGAGACTTTGT 0.468 NA 12 53 0 0 0.001368 0 0 AADAC 13 broad.mit.edu 37 3 151545806 151545806 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:151545806G>A uc003eze.2 + 5 1136 c.1046G>A c.(1045-1047)GGA>GAA p.G349E NM_001086 NP_001077 P22760 AAAD_HUMAN arylacetamide deacetylase 349 Lumenal (Potential). positive regulation of triglyceride catabolic process endoplasmic reticulum membrane|integral to membrane|microsome carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity skin(2) 2 Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112) LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) AGAGATGATGGACTCATGTAT 0.458 Ovarian(30;839 841 2699 32801 46334) NA 11 43 0 0 0.008291 0 0 SI 6476 broad.mit.edu 37 3 164735453 164735453 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:164735453G>T uc003fei.2 - 31 3704 c.3642C>A c.(3640-3642)GGC>GGA p.G1214G NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1214 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGACTGGATGGCCAATTACCT 0.318 NA HNSCC(35;0.089) 5 12 0.00198382 0.00216101 0.001984 1 0 MECOM 2122 broad.mit.edu 37 3 169099123 169099123 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:169099123A>C uc011bpj.1 - 2 630 c.227T>G c.(226-228)ATT>AGT p.I76S MECOM_uc003ffl.2_Missense_Mutation_p.I48S|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.I76S|MECOM_uc011bpl.1_Missense_Mutation_p.I76S NM_004991 NP_004982 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform c Error:Variant_position_missing_in_Q03112_after_alignment apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 CTCAGCAGGAATGGGGATATC 0.473 NA 25 80 0 0 0.00333 0 0 MASP1 5648 broad.mit.edu 37 3 186943230 186943230 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:186943230G>T uc003frh.1 - 13 1955 c.1623C>A c.(1621-1623)CAC>CAA p.H541Q NM_001879 NP_001870 P48740 MASP1_HUMAN mannan-binding lectin serine protease 1 isoform 541 Peptidase S1. complement activation, lectin pathway|negative regulation of complement activation|proteolysis extracellular space calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity ovary(2)|breast(1)|liver(1) 4 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;3.49e-18) GBM - Glioblastoma multiforme(93;0.0366) CATACTGGGGGTGGAGAGTGG 0.547 NA 20 105 1.96292e-10 2.88638e-10 0.010504 1 0 IL1RAP 3556 broad.mit.edu 37 3 190362060 190362060 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:190362060G>T uc003fsm.1 + 10 1281 c.1075G>T c.(1075-1077)GAA>TAA p.E359* IL1RAP_uc010hzg.1_Nonsense_Mutation_p.E359*|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Nonsense_Mutation_p.E359*|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Nonsense_Mutation_p.E359* NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 359 Extracellular (Potential). inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ATACACAGTGGAACTGGCTTG 0.473 NA 4 16 0.00909568 0.00963801 0.009096 1 0 FGF12 2257 broad.mit.edu 37 3 191888365 191888365 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:191888365G>A uc003fsx.2 - 4 1321 c.495C>T c.(493-495)CGC>CGT p.R165R FGF12_uc003fsy.2_Silent_p.R103R NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 165 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) ATTCTTGCTGGCGGTACAGTG 0.393 NA 41 144 0 0 0.00623 0 0 DLG1 1739 broad.mit.edu 37 3 196867097 196867097 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr3:196867097C>A uc003fxo.3 - 9 916 c.726G>T c.(724-726)ACG>ACT p.T242T DLG1_uc011bub.1_Silent_p.T126T|DLG1_uc011buc.1_Silent_p.T126T|DLG1_uc011bud.1_5'UTR|DLG1_uc003fxn.3_Silent_p.T242T|DLG1_uc011bue.1_Silent_p.T209T|DLG1_uc010ial.2_Silent_p.T242T|DLG1_uc011buf.1_RNA|DLG1_uc003fxp.2_RNA|DLG1_uc010iam.1_Silent_p.T209T|DLG1_uc010ian.2_Silent_p.T109T NM_001098424 NP_001091894 Q12959 DLG1_HUMAN discs, large homolog 1 isoform 1 242 PDZ 1. actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding ovary(3) 3 all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589) Lung NSC(153;0.133) Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.0148) GTGGGTTGTCCGTACCTCCTG 0.428 NA 14 49 6.72482e-11 9.93549e-11 0.003163 1 0 PDE6B 5158 broad.mit.edu 37 4 651145 651145 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:651145G>A uc003gap.2 + 10 1316 c.1263G>A c.(1261-1263)CTG>CTA p.L421L PDE6B_uc003gao.3_Silent_p.L421L|PDE6B_uc011buy.1_Silent_p.L142L|uc003gaq.1_5'Flank NM_000283 NP_000274 P35913 PDE6B_HUMAN phosphodiesterase 6B isoform 1 421 GAF 2. cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding 0 TCCAGTCCCTGACACAGTTCC 0.637 GBM(71;463 1194 9848 25922 46834) NA 8 22 0 0 0.00308 0 0 WHSC1 7468 broad.mit.edu 37 4 1920134 1920134 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:1920134G>T uc003gdz.3 + 5 1370 c.1194G>T c.(1192-1194)AAG>AAT p.K398N WHSC1_uc003geb.3_Missense_Mutation_p.K398N|WHSC1_uc003gec.3_Missense_Mutation_p.K398N|WHSC1_uc003ged.3_Missense_Mutation_p.K398N|WHSC1_uc003gee.3_RNA|WHSC1_uc003gef.3_RNA|WHSC1_uc003gdx.2_Missense_Mutation_p.K398N|WHSC1_uc003gdy.1_Missense_Mutation_p.K398N|WHSC1_uc010icd.1_Missense_Mutation_p.K398N|WHSC1_uc003gea.1_Missense_Mutation_p.K398N|WHSC1_uc010ice.1_Missense_Mutation_p.K398N|WHSC1_uc003geh.1_Missense_Mutation_p.K398N NM_001042424 NP_001035889 O96028 NSD2_HUMAN Wolf-Hirschhorn syndrome candidate 1 protein 398 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|cytoplasm|nuclear membrane|nucleolus DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding ovary(3)|lung(3)|skin(2)|pancreas(1) 9 all_epithelial(65;1.34e-05) OV - Ovarian serous cystadenocarcinoma(23;0.00606) STAD - Stomach adenocarcinoma(129;0.232) TTCCCATGAAGAGAAGGCGGA 0.532 NA T IGH@ MM 5 41 0.000602214 0.000670085 0.000602 1 0 RGS12 6002 broad.mit.edu 37 4 3441281 3441281 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:3441281G>T uc003ggw.2 + 18 5118 c.4214G>T c.(4213-4215)GGG>GTG p.G1405V RGS12_uc003ggz.2_Missense_Mutation_p.G757V|RGS12_uc003gha.2_Missense_Mutation_p.G747V|RGS12_uc010icv.2_Missense_Mutation_p.G604V|HGFAC_uc003ghc.2_5'Flank|HGFAC_uc010icw.2_5'Flank NM_198229 NP_937872 O14924 RGS12_HUMAN regulator of G-protein signalling 12 isoform 1 1405 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GGCATAGCGGGGGCACAGGCT 0.662 NA 10 38 2.17888e-05 2.58145e-05 0.006214 1 0 ZBTB49 166793 broad.mit.edu 37 4 4317389 4317389 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:4317389G>A uc003ghu.2 + 6 1578 c.1403G>A c.(1402-1404)CGT>CAT p.R468H ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Intron NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 468 C2H2-type 3. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GACGTCCAGCGTCACATTATT 0.403 NA 3 21 0 0 0.004672 0 0 CRMP1 1400 broad.mit.edu 37 4 5862766 5862766 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:5862766C>A uc003gip.2 - 4 401 c.300G>T c.(298-300)GGG>GGT p.G100G CRMP1_uc003gin.1_Intron|CRMP1_uc003giq.2_Silent_p.G100G|CRMP1_uc003gir.2_Silent_p.G95G|CRMP1_uc003gis.2_Silent_p.G214G NM_001313 NP_001304 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 isoform 2 100 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding ovary(2) 2 Colorectal(103;0.0721) TCATCGTGGTCCCGCCCACCA 0.582 NA 6 35 0.00198382 0.00216101 0.001984 1 0 GABRA2 2555 broad.mit.edu 37 4 46264116 46264116 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:46264116G>T uc003gxc.3 - 8 1559 c.886C>A c.(886-888)CTA>ATA p.L296I GABRA2_uc010igc.2_Missense_Mutation_p.L296I|GABRA2_uc011bzc.1_Missense_Mutation_p.L241I|GABRA2_uc003gxe.2_Missense_Mutation_p.L296I NM_001114175 NP_001107647 P47869 GBRA2_HUMAN gamma-aminobutyric acid A receptor, alpha 2 296 Helical; (Probable). gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2)|skin(2) 4 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGATGCTTAGAGTTGTCATT 0.418 NA 4 22 0.00024832 0.000280318 0.009096 1 0 UBA6 55236 broad.mit.edu 37 4 68490785 68490785 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:68490785C>A uc003hdg.3 - 29 2691 c.2639G>T c.(2638-2640)CGT>CTT p.R880L NM_018227 NP_060697 A0AVT1 UBA6_HUMAN ubiquitin-activating enzyme E1-like 2 880 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding 0 TGTTTTGAAACGGTCAGCTGG 0.363 NA 12 33 1.08611e-07 1.43736e-07 0.010729 1 0 CCDC158 339965 broad.mit.edu 37 4 77272874 77272874 + Missense_Mutation SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:77272874T>G uc003hkb.3 - 16 2690 c.2537A>C c.(2536-2538)AAA>ACA p.K846T NM_001042784 NP_001036249 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 846 skin(3)|ovary(2)|pancreas(1) 6 TGACCTTACTTTTATATCCAA 0.323 NA 6 21 0 0 0.001168 0 0 PRKG2 5593 broad.mit.edu 37 4 82031648 82031648 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:82031648C>A uc003hmh.2 - 14 1908 c.1894G>T c.(1894-1896)GAT>TAT p.D632Y PRKG2_uc011ccf.1_Missense_Mutation_p.D212Y|PRKG2_uc011ccg.1_Missense_Mutation_p.D212Y|PRKG2_uc011cch.1_Missense_Mutation_p.D603Y NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 632 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GACCAGAAATCCACACTGAAG 0.428 NA 8 35 5.4927e-09 7.69473e-09 0.004482 1 0 AFF1 4299 broad.mit.edu 37 4 88035845 88035845 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:88035845C>T uc003hqj.3 + 11 2246 c.1839C>T c.(1837-1839)GCC>GCT p.A613A AFF1_uc011ccz.1_Silent_p.A620A|AFF1_uc003hqk.3_Silent_p.A613A|AFF1_uc011cda.1_Silent_p.A251A NM_005935 NP_005926 P51825 AFF1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 613 nucleus sequence-specific DNA binding transcription factor activity breast(1) 1 Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000233) AGGCCTCTGCCCGGGCAGGTT 0.587 NA 21 51 0 0 0.008871 0 0 UNC5C 8633 broad.mit.edu 37 4 96106324 96106324 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:96106324C>T uc003htp.1 - 13 2314 c.2160G>A c.(2158-2160)CAG>CAA p.Q720Q UNC5C_uc010ilc.1_Silent_p.Q739Q NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 720 Cytoplasmic (Potential). apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GTCCTCCCATCTGTCTCTCAA 0.443 NA 15 72 0 0 0.004007 0 0 ADH1A 124 broad.mit.edu 37 4 100212093 100212093 + Translation_Start_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:100212093G>T uc003hur.1 - 1 50 c.-21C>A c.(-23--19)GTCTG>GTATG uc003hum.1_Splice_Site|ADH1A_uc011ceg.1_Intron|ADH1A_uc010ilg.1_Translation_Start_Site NM_000667 NP_000658 P07327 ADH1A_HUMAN class I alcohol dehydrogenase, alpha subunit ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding large_intestine(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(123;9.56e-08) Fomepizole(DB01213)|NADH(DB00157) CTTCTCTGCAGACCAGGAGAC 0.348 NA 26 64 7.26314e-15 1.18886e-14 0.007291 1 0 C4orf17 84103 broad.mit.edu 37 4 100443848 100443848 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:100443848C>A uc003huw.2 + 3 642 c.319C>A c.(319-321)CCT>ACT p.P107T C4orf17_uc003hux.2_RNA NM_032149 NP_115525 Q53FE4 CD017_HUMAN hypothetical protein LOC84103 107 0 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) TGCCAAAGTGCCTCCACGGCC 0.498 NA 9 49 5.68852e-11 8.42443e-11 0.004482 1 0 ANK2 287 broad.mit.edu 37 4 114278492 114278492 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:114278492G>T uc003ibe.3 + 38 8818 c.8718G>T c.(8716-8718)ATG>ATT p.M2906I ANK2_uc003ibd.3_Intron|ANK2_uc003ibf.3_Intron|ANK2_uc011cgc.1_Intron|ANK2_uc003ibg.3_Intron|ANK2_uc003ibh.3_Intron|ANK2_uc011cgd.1_Missense_Mutation_p.M208I|ANK2_uc011cgb.1_Missense_Mutation_p.M2921I NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 2873 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GATTTTCCATGGATGTTCCCG 0.398 NA 34 106 2.20474e-14 3.58054e-14 0.003755 1 0 UGT8 7368 broad.mit.edu 37 4 115544302 115544302 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:115544302A>T uc003ibs.2 + 2 788 c.266A>T c.(265-267)AAG>ATG p.K89M UGT8_uc003ibt.2_Missense_Mutation_p.K89M|UGT8_uc011cge.1_RNA NM_001128174 NP_001121646 Q16880 CGT_HUMAN UDP-galactose-ceramide galactosyltransferase 8 89 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity ovary(1)|skin(1) 2 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) CTACAGTCCAAGATGCGGAAT 0.473 NA 19 60 0 0 0.008871 0 0 NDST4 64579 broad.mit.edu 37 4 115998118 115998118 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:115998118G>A uc003ibu.2 - 2 754 c.75C>T c.(73-75)AGC>AGT p.S25S NDST4_uc010imw.2_Intron NM_022569 NP_072091 Q9H3R1 NDST4_HUMAN heparan sulfate N-deacetylase/N-sulfotransferase 25 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity skin(3)|ovary(1) 4 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) AAATGACAATGCTCACCAAGC 0.358 NA 6 20 0 0 0.001168 0 0 SYNPO2 171024 broad.mit.edu 37 4 119978927 119978927 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:119978927C>A uc010inb.2 + 5 3820 c.3624C>A c.(3622-3624)TCC>TCA p.S1208S SYNPO2_uc011cgh.1_3'UTR|SYNPO2_uc010inc.2_Silent_p.S1078S NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN synaptopodin 2 isoform a Error:Variant_position_missing_in_Q9UMS6_after_alignment nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding ovary(2) 2 ATAATATGTCCACCACCTCCC 0.413 NA 17 52 1.15088e-07 1.51984e-07 0.004007 1 0 ADAD1 132612 broad.mit.edu 37 4 123317427 123317427 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:123317427G>T uc003ieo.2 + 7 851 c.619G>T c.(619-621)GCA>TCA p.A207S ADAD1_uc003iep.2_Missense_Mutation_p.A207S|ADAD1_uc003ieq.2_Missense_Mutation_p.A189S NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 207 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TATTCAATATGCAAAGATTTC 0.294 NA 5 23 5.9392e-07 7.61687e-07 0.001168 1 0 PCDH10 57575 broad.mit.edu 37 4 134071464 134071464 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:134071464C>A uc003iha.2 + 1 995 c.169C>A c.(169-171)CCC>ACC p.P57T uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.P57T NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 57 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) TCAGACGGTGCCCAACTCAAG 0.527 NA 34 90 4.34311e-12 6.65372e-12 0.003271 1 0 PCDH10 57575 broad.mit.edu 37 4 134072738 134072738 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:134072738C>A uc003iha.2 + 1 2269 c.1443C>A c.(1441-1443)TAC>TAA p.Y481* uc003igy.2_5'Flank|PCDH10_uc003igz.2_Nonsense_Mutation_p.Y481* NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 481 Extracellular (Potential).|Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) CTGGCGCCTACATCTACGCGG 0.602 NA 24 94 2.98393e-07 3.891e-07 0.00278 1 0 OTUD4 54726 broad.mit.edu 37 4 146058708 146058708 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:146058708C>A uc003ika.3 - 21 3162 c.3024G>T c.(3022-3024)TGG>TGT p.W1008C OTUD4_uc003ijz.3_Missense_Mutation_p.W1007C NM_001102653 NP_001096123 Q01804 OTUD4_HUMAN OTU domain containing 4 protein isoform 3 1072 protein binding ovary(2)|breast(1) 3 all_hematologic(180;0.151) GCTGTCCTTTCCAGGACTCCT 0.473 NA 61 161 4.17052e-40 7.90873e-40 0.00361 1 0 TTC29 83894 broad.mit.edu 37 4 147741356 147741356 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:147741356A>G uc003ikw.3 - 10 1249 c.1022T>C c.(1021-1023)GTG>GCG p.V341A TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.V367A|TTC29_uc010ipd.1_Missense_Mutation_p.V341A NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 341 TPR 4. binding 0 all_hematologic(180;0.151) TGCAATTTTCACAAATTTTTT 0.343 NA 11 47 0 0 0.010729 0 0 KIAA0922 23240 broad.mit.edu 37 4 154524568 154524568 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:154524568A>T uc003inm.3 + 24 2802 c.2750A>T c.(2749-2751)AAT>ATT p.N917I KIAA0922_uc010ipp.2_Missense_Mutation_p.N918I|KIAA0922_uc010ipq.2_Missense_Mutation_p.N686I NM_015196 NP_056011 A2VDJ0 T131L_HUMAN hypothetical protein LOC23240 isoform 2 917 Cytoplasmic (Potential). integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 all_hematologic(180;0.093) Renal(120;0.118) CAGCAAAACAATGGTCCTATG 0.413 NA 7 56 0 0 0.00308 0 0 FGA 2243 broad.mit.edu 37 4 155508744 155508744 + Nonsense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:155508744T>A uc003iod.1 - 4 488 c.430A>T c.(430-432)AAA>TAA p.K144* FGA_uc003ioe.1_Nonsense_Mutation_p.K144*|FGA_uc003iof.1_Nonsense_Mutation_p.K144* NM_000508 NP_000499 P02671 FIBA_HUMAN fibrinogen, alpha polypeptide isoform alpha-E 144 By similarity. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding ovary(2)|breast(1) 3 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) TCTATGACTTTGCGCTTCAGG 0.418 NSCLC(143;340 1922 20892 22370 48145) NA 16 42 0 0 0.00499 0 0 NPY2R 4887 broad.mit.edu 37 4 156135828 156135828 + Nonsense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:156135828T>A uc003ioq.2 + 2 1232 c.737T>A c.(736-738)TTG>TAG p.L246* NPY2R_uc003ior.2_Nonsense_Mutation_p.L246* NM_000910 NP_000901 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 246 Cytoplasmic (Potential). cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity lung(2)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0854) TGGAGTAAATTGAAGAACCAT 0.443 NA 14 57 0 0 0.001855 0 0 GLRA3 8001 broad.mit.edu 37 4 175604028 175604028 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:175604028C>T uc003ity.1 - 6 1140 c.637G>A c.(637-639)GAA>AAA p.E213K GLRA3_uc003itz.1_Missense_Mutation_p.E213K NM_006529 NP_006520 O75311 GLRA3_HUMAN glycine receptor, alpha 3 isoform a 213 Extracellular (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity ovary(3) 3 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GTGAGTCCTTCTGCCACTTGT 0.368 NA 5 34 0 0 0.000602 0 0 ODZ3 55714 broad.mit.edu 37 4 183713454 183713454 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:183713454C>T uc003ivd.1 + 25 5666 c.5629C>T c.(5629-5631)CGG>TGG p.R1877W NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1877 Extracellular (Potential).|YD 6. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) TCATAGCCAGCGGCAGTACAT 0.498 NA 20 56 0 0 0.008871 0 0 LRRC14B 389257 broad.mit.edu 37 5 195279 195279 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:195279C>A uc003jal.1 + 2 1384 c.1356C>A c.(1354-1356)GAC>GAA p.D452E NM_001080478 NP_001073947 A6NHZ5 LR14B_HUMAN leucine rich repeat containing 14B 452 skin(1) 1 AGAAATACGACGAGATCGCCG 0.592 NA 42 187 4.07013e-28 7.5797e-28 0.00874 1 0 NKD2 85409 broad.mit.edu 37 5 1034410 1034410 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:1034410T>C uc003jbt.1 + 6 396 c.391T>C c.(391-393)TAT>CAT p.Y131H NKD2_uc010itf.1_Missense_Mutation_p.Y131H NM_033120 NP_149111 Q969F2 NKD2_HUMAN naked cuticle homolog 2 131 Targeting to the basolateral cell membrane.|EF-hand.|Interaction with DVL1, DVL2 and DVL3 (By similarity). exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding 0 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GTTCACGCTCTATGACTTTGA 0.622 NA 16 67 0 0 0.012319 0 0 IRX4 50805 broad.mit.edu 37 5 1878849 1878849 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:1878849G>T uc003jcz.2 - 5 913 c.794C>A c.(793-795)CCG>CAG p.P265Q IRX4_uc011cmf.1_Missense_Mutation_p.P126Q NM_016358 NP_057442 P78413 IRX4_HUMAN iroquois homeobox 4 265 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GBM - Glioblastoma multiforme(108;0.242) TGCTTCCAGCGGGTCGAAGTC 0.682 NA 17 29 3.41278e-10 4.98298e-10 0.00499 1 0 FBXL7 23194 broad.mit.edu 37 5 15928506 15928506 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:15928506C>A uc003jfn.1 + 3 1116 c.635C>A c.(634-636)CCC>CAC p.P212H NM_012304 NP_036436 Q9UJT9 FBXL7_HUMAN F-box and leucine-rich repeat protein 7 212 LRR 2. ubiquitin-dependent protein catabolic process ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity ovary(2)|lung(1) 3 CAGTGCTGCCCCGAACTGAGG 0.582 NA 29 55 1.77063e-15 2.94474e-15 0.005443 1 0 PRDM9 56979 broad.mit.edu 37 5 23527395 23527395 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:23527395C>A uc003jgo.2 + 11 2380 c.2198C>A c.(2197-2199)TCA>TAA p.S733* NM_020227 NP_064612 Q9NQV7 PRDM9_HUMAN PR domain containing 9 733 C2H2-type 9. meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding ovary(3)|large_intestine(2)|pancreas(1) 6 AGCAATAAGTCACACCTCCTC 0.582 NA HNSCC(3;0.000094) 29 135 6.4308e-24 1.17993e-23 0.00361 1 0 CDH9 1007 broad.mit.edu 37 5 26915805 26915805 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:26915805G>C uc003jgs.1 - 3 625 c.456C>G c.(454-456)ATC>ATG p.I152M CDH9_uc010iug.2_Missense_Mutation_p.I152M NM_016279 NP_057363 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 preproprotein 152 Extracellular (Potential).|Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|skin(2)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1) 9 CATTGTCATTGATATCATGTA 0.373 Melanoma(8;187 585 15745 40864 52829) NA 49 56 0 0 0.00361 0 0 NPR3 4883 broad.mit.edu 37 5 32780871 32780871 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:32780871T>C uc003jhv.2 + 5 1457 c.1239T>C c.(1237-1239)TAT>TAC p.Y413Y NPR3_uc010iuo.2_Silent_p.Y197Y|NPR3_uc011cnz.1_Silent_p.Y197Y|NPR3_uc003jhu.2_Silent_p.Y413Y NM_000908 NP_000899 P17342 ANPRC_HUMAN natriuretic peptide receptor C/guanylate cyclase 413 Extracellular (Potential). osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development integral to membrane hormone binding|natriuretic peptide receptor activity ovary(1)|central_nervous_system(1) 2 Nesiritide(DB04899) GAGACCGATATGGGGATTTCT 0.552 NA 63 196 0 0 0.00361 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33751635 33751635 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:33751635G>A uc003jia.1 - 3 671 c.508C>T c.(508-510)CCA>TCA p.P170S ADAMTS12_uc010iuq.1_Missense_Mutation_p.P170S|ADAMTS12_uc003jib.1_Missense_Mutation_p.P170S NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 170 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 TCTCCATGTGGTAGTTGGAAA 0.378 NA HNSCC(64;0.19) 6 122 0 0 0.00308 0 0 HEATR7B2 133558 broad.mit.edu 37 5 41008745 41008745 + Nonsense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:41008745G>A uc003jmj.3 - 33 4061 c.3571C>T c.(3571-3573)CAG>TAG p.Q1191* HEATR7B2_uc003jmi.3_Nonsense_Mutation_p.Q746* NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 1191 HEAT 13. binding ovary(6)|central_nervous_system(2) 8 TCTCCCTGCTGCATCACATGC 0.562 NA 44 61 0 0 0.00361 0 0 NDUFS4 4724 broad.mit.edu 37 5 52979007 52979007 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:52979007G>T uc003jpe.2 + 5 512 c.484G>T c.(484-486)GCA>TCA p.A162S NM_002495 NP_002486 O43181 NDUS4_HUMAN NADH dehydrogenase (ubiquinone) Fe-S protein 4 162 brain development|cAMP-mediated signaling|mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|positive regulation of fibroblast proliferation|reactive oxygen species metabolic process|regulation of protein phosphorylation|response to cAMP|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1) 1 Lung NSC(810;8.27e-05)|Breast(144;0.0848) NADH(DB00157) GTCTTATGGTGCAAACTTTTC 0.388 NA 51 66 4.44712e-29 8.30664e-29 0.00361 1 0 MAST4 375449 broad.mit.edu 37 5 66426037 66426037 + Splice_Site SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:66426037G>T uc003jut.1 + 14 1247 c.1179_splice c.e14-1 p.G393_splice MAST4_uc003juu.1_Splice_Site_p.G403_splice|MAST4_uc011cra.1_Splice_Site_p.G376_splice|MAST4_uc003juv.2_Splice_Site_p.G388_splice|MAST4_uc003juw.2_Splice_Site_p.G388_splice NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CTCCTTTTCAGGGCAGTCTAC 0.418 NA 3 9 0.004672 0.00502765 0.004672 1 0 BDP1 55814 broad.mit.edu 37 5 70809190 70809190 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:70809190A>G uc003kbp.1 + 19 4689 c.4426A>G c.(4426-4428)ATG>GTG p.M1476V BDP1_uc003kbo.2_Missense_Mutation_p.M1476V NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN transcription factor-like nuclear regulator 1476 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) GACTATTGTGATGCAAGAAAA 0.328 NA 9 207 0 0 0.006214 0 0 EDIL3 10085 broad.mit.edu 37 5 83433124 83433124 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:83433124G>T uc003kio.1 - 5 823 c.404C>A c.(403-405)ACA>AAA p.T135K EDIL3_uc003kip.1_Missense_Mutation_p.T125K NM_005711 NP_005702 O43854 EDIL3_HUMAN EGF-like repeats and discoidin I-like 135 EGF-like 3. cell adhesion|multicellular organismal development extracellular region calcium ion binding|integrin binding skin(2) 2 Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425) OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26) AACAAGATCTGTACATATTCC 0.313 NA 12 81 0.000219431 0.000249975 0.00245 1 0 NBPF22P 285622 broad.mit.edu 37 5 85578556 85578556 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:85578556C>A uc003kiq.2 + 1 295 c.33C>A c.(31-33)GGC>GGA p.G11G NR_003719 SubName: Full=Putative uncharacterized protein NBPF22P; 0 CAGTCCCTGGCTCTACCTCTT 0.463 NA 22 95 0.000229342 0.000260787 0.012319 1 0 APBB3 10307 broad.mit.edu 37 5 139941196 139941196 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:139941196A>T uc003lgd.1 - 7 1097 c.738T>A c.(736-738)AGT>AGA p.S246R APBB3_uc003lgb.1_Missense_Mutation_p.S18R|APBB3_uc003lgc.1_Missense_Mutation_p.S18R|APBB3_uc003lge.1_Missense_Mutation_p.S239R|APBB3_uc003lgf.1_RNA|APBB3_uc010jfp.1_RNA|APBB3_uc011czi.1_Missense_Mutation_p.S18R|APBB3_uc010jfq.1_Missense_Mutation_p.S18R NM_133172 NP_573418 O95704 APBB3_HUMAN amyloid beta precursor protein-binding, family 241 PID 1. actin cytoskeleton|cytoplasm p.S248R(1) ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATGTAGGGCACTGGCAATGG 0.542 NA 78 98 0 0 0.00361 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263343 140263343 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:140263343G>T uc003lif.2 + 1 1490 c.1490G>T c.(1489-1491)CGG>CTG p.R497L PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R497L|PCDHA13_uc003lid.2_Missense_Mutation_p.R497L NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 497 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGGAGCGGCGGGTGGGC 0.662 Melanoma(147;1739 1852 5500 27947 37288) NA 79 48 9.04243e-43 1.72e-42 0.00361 1 0 PCDHGA9 56107 broad.mit.edu 37 5 140784509 140784509 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:140784509A>T uc003lkh.1 + 1 1990 c.1990A>T c.(1990-1992)ATA>TTA p.I664L 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_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.I664L NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 664 Cadherin 6.|Extracellular (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) CACAGTAGCCATAGCTGACAG 0.592 NA 44 48 0 0 0.007835 0 0 PPP2R2B 5521 broad.mit.edu 37 5 145969781 145969781 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:145969781A>C uc003loe.2 - 9 1586 c.1061T>G c.(1060-1062)ATG>AGG p.M354R PPP2R2B_uc010jgm.2_Missense_Mutation_p.M343R|PPP2R2B_uc003log.3_Missense_Mutation_p.M354R|PPP2R2B_uc003lof.3_Missense_Mutation_p.M354R|PPP2R2B_uc003loi.3_Missense_Mutation_p.M357R|PPP2R2B_uc003loh.3_Missense_Mutation_p.M354R|PPP2R2B_uc003loj.3_Missense_Mutation_p.M334R|PPP2R2B_uc003lok.3_Missense_Mutation_p.M343R|PPP2R2B_uc011dbu.1_Missense_Mutation_p.M360R|PPP2R2B_uc011dbv.1_Missense_Mutation_p.M412R NM_004576 NP_004567 Q00005 2ABB_HUMAN beta isoform of regulatory subunit B55, protein 354 WD 6. apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity ovary(1)|prostate(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGCCTGTCATGATGACACT 0.473 NA 23 35 0 0 0.00278 0 0 FAT2 2196 broad.mit.edu 37 5 150946570 150946570 + Silent SNP T T G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:150946570T>G uc003lue.3 - 1 1936 c.1923A>C c.(1921-1923)ACA>ACC p.T641T GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Silent_p.T641T NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 641 Extracellular (Potential).|Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATCTGAGGCTGTAATCTTCA 0.413 NA 25 24 0 0 0.003954 0 0 KIF4B 285643 broad.mit.edu 37 5 154394885 154394885 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:154394885A>G uc010jih.1 + 1 1626 c.1466A>G c.(1465-1467)GAT>GGT p.D489G NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 489 Potential. axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) GCAGCCATTGATACTGCGGTA 0.453 NA 37 60 0 0 0.005524 0 0 KIF4B 285643 broad.mit.edu 37 5 154396536 154396536 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:154396536G>C uc010jih.1 + 1 3277 c.3117G>C c.(3115-3117)ATG>ATC p.M1039I NM_001099293 NP_001092763 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 1039 Interaction with PRC1 (By similarity).|Globular (By similarity). axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity ovary(1) 1 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AGCAAAGCATGGACATCGAGG 0.343 NA 35 33 0 0 0.002836 0 0 DOCK2 1794 broad.mit.edu 37 5 169129338 169129338 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:169129338C>T uc003maf.2 + 14 1370 c.1290C>T c.(1288-1290)CTC>CTT p.L430L DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_5'Flank|DOCK2_uc010jjl.1_5'UTR NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 430 DHR-1. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACATTACTCTCTTACAAGGTG 0.493 NA OREG0017017 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 114 0 0 0.001168 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171777438 171777438 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:171777438T>A uc003mbr.2 - 10 1112 c.941A>T c.(940-942)AAG>ATG p.K314M NM_001017995 NP_001017995 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 314 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GAGCAGCTCCTTCTCCCTGCC 0.677 NA 34 28 0 0 0.012213 0 0 SLC34A1 6569 broad.mit.edu 37 5 176823992 176823992 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:176823992C>A uc003mgk.3 + 12 1434 c.1333C>A c.(1333-1335)CTG>ATG p.L445M NM_003052 NP_003043 Q06495 NPT2A_HUMAN solute carrier family 34 (sodium phosphate), 445 Extracellular (Potential). phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport brush border membrane|integral to plasma membrane protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity ovary(1) 1 all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CCCGCTCACACTGGGTTCCAA 0.647 NA 30 27 1.68575e-08 2.30448e-08 0.007291 1 0 SERPINB9 5272 broad.mit.edu 37 6 2892184 2892184 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:2892184G>A uc003mug.2 - 6 727 c.606C>T c.(604-606)GCC>GCT p.A202A uc003mue.2_Intron|SERPINB9_uc003muf.2_Silent_p.A5A NM_004155 NP_004146 P50453 SPB9_HUMAN serpin peptidase inhibitor, clade B, member 9 202 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity 0 Ovarian(93;0.0412) all_hematologic(90;0.108) GCTTAAACGTGGCCTCCTGAT 0.577 NA 8 115 0 0 0.006214 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124237 12124237 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:12124237A>T uc003nac.2 + 4 4388 c.4209A>T c.(4207-4209)GAA>GAT p.E1403D HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1403 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) CACTTACTGAATTGCAGCCTC 0.478 NA 4 105 0 0 0.000602 0 0 TDP2 51567 broad.mit.edu 37 6 24651078 24651078 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:24651078C>A uc003nej.2 - 7 1052 c.1027G>T c.(1027-1029)GAC>TAC p.D343Y TDP2_uc003nei.2_Missense_Mutation_p.D231Y NM_016614 NP_057698 O95551 TYDP2_HUMAN TRAF and TNF receptor-associated protein 343 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity ovary(1)|lung(1) 2 CTACCACAGTCCAGTTTTTCT 0.398 NA Direct_reversal_of_damage|Editing_and_processing_nucleases 8 52 3.09899e-07 3.99083e-07 0.004482 1 0 SCAND3 114821 broad.mit.edu 37 6 28539765 28539765 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:28539765G>A uc003nlo.2 - 4 4519 c.3901C>T c.(3901-3903)CTG>TTG p.L1301L NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 1301 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 gctaccctcaggggataatgt 0 NA 17 45 0 0 0.004007 0 0 TRIM27 5987 broad.mit.edu 37 6 28872429 28872429 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:28872429C>G uc003nlr.2 - 8 1319 c.960G>C c.(958-960)CTG>CTC p.L320L TRIM27_uc003nls.2_Silent_p.L320L|TRIM27_uc003nlt.1_3'UTR NM_006510 NP_006501 P14373 TRI27_HUMAN ret finger protein 320 B30.2/SPRY. cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding ovary(1) 1 TGTCTGGGTCCAGAGTCACGT 0.557 NA T RET papillary thyroid 7 39 0 0 0.001984 0 0 OR14J1 442191 broad.mit.edu 37 6 29274893 29274893 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:29274893G>T uc011dln.1 + 1 427 c.427G>T c.(427-429)GTG>TTG p.V143L NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TAGGCATGCAGTGATAGCTGT 0.488 NA 100 105 1.7666e-45 3.381e-45 0.00361 1 0 KIAA1949 170954 broad.mit.edu 37 6 30653751 30653751 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:30653751G>T uc003nra.2 - 2 276 c.45C>A c.(43-45)CGC>CGA p.R15R KIAA1949_uc003nrb.3_Silent_p.R15R NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 15 cytoplasm|cytoskeleton actin binding 0 CCTCCTGCCGGCGCCGGGCTA 0.662 NA 45 186 2.0833e-19 3.70232e-19 0.00361 1 0 BAT2 7916 broad.mit.edu 37 6 31600360 31600360 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:31600360G>T uc003nvb.3 + 16 4159 c.3910G>T c.(3910-3912)GCC>TCC p.A1304S BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.A1304S NM_080686 NP_542417 P48634 PRC2A_HUMAN HLA-B associated transcript-2 1304 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding 0 CCGGGCAGCTGCCAAGTCTCC 0.607 NA 23 127 2.32416e-17 3.9715e-17 0.002299 1 0 NOTCH4 4855 broad.mit.edu 37 6 32180263 32180263 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:32180263C>A uc003obb.2 - 17 2807 c.2668G>T c.(2668-2670)GCA>TCA p.A890S NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA NM_004557 NP_004548 Q99466 NOTC4_HUMAN notch4 preproprotein 890 EGF-like 23.|Extracellular (Potential). 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 TGGCTCAGTGCAGCCTTCTGG 0.587 NA 109 76 4.44732e-65 8.53776e-65 0.00361 1 0 TAP1 6890 broad.mit.edu 37 6 32816584 32816584 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:32816584C>A uc003ocg.2 - 7 1746 c.1591G>T c.(1591-1593)GCT>TCT p.A531S TAP1_uc011dqi.1_Missense_Mutation_p.A270S NM_000593 NP_000584 Q03518 TAP1_HUMAN transporter 1, ATP-binding cassette, sub-family 531 Involved in peptide-binding site.|Cytoplasmic (Potential). antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity cytosol|plasma membrane|TAP complex ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding skin(1) 1 GAGCCCACAGCCTTCTGTACT 0.527 NA 43 42 1.97e-11 2.97413e-11 0.010771 1 0 COL11A2 1302 broad.mit.edu 37 6 33151934 33151934 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:33151934G>T uc003ocx.1 - 8 1335 c.1107C>A c.(1105-1107)GCC>GCA p.A369A COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron NM_080680 NP_542411 P13942 COBA2_HUMAN collagen, type XI, alpha 2 isoform 1 369 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging ovary(3)|skin(2) 5 CTCCTGAGTGGGCTGTCTCCG 0.532 Melanoma(1;90 116 3946 5341 17093) NA 6 119 0.00116845 0.0012886 0.001168 1 0 KCNK16 83795 broad.mit.edu 37 6 39282878 39282878 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:39282878G>T uc003ooq.2 - 6 844 c.830C>A c.(829-831)GCG>GAG p.A277E KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_3'UTR|KCNK16_uc010jwy.2_Missense_Mutation_p.A230E NM_032115 NP_115491 Q96T55 KCNKG_HUMAN potassium channel, subfamily K, member 16 277 Cytoplasmic (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(1) 3 GCCTGGAGCCGCCTTGGCTCC 0.572 NA 31 127 2.47316e-13 3.93428e-13 0.003271 1 0 CRIP3 401262 broad.mit.edu 37 6 43275482 43275482 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:43275482C>A uc010jyn.1 - 4 197 c.197_splice c.e4-1 p.G66_splice CRIP3_uc003ouu.1_Splice_Site_p.G66_splice NM_206922 NP_996805 Q6Q6R5 CRIP3_HUMAN cysteine-rich protein 3 cytoplasm zinc ion binding skin(1) 1 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305) ATGTTCACCCCTGAAGAGAGA 0.612 NA 20 62 2.4624e-09 3.48093e-09 0.008871 1 0 YIPF3 25844 broad.mit.edu 37 6 43480928 43480928 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:43480928G>T uc003ovl.1 - 6 702 c.545C>A c.(544-546)ACC>AAC p.T182N C6orf154_uc003ovk.1_5'Flank|YIPF3_uc011dvk.1_Missense_Mutation_p.T147N|YIPF3_uc010jyr.1_Missense_Mutation_p.T188N|YIPF3_uc010jys.1_Missense_Mutation_p.T25N|YIPF3_uc003ovm.1_Missense_Mutation_p.T56N|YIPF3_uc010jyt.1_Missense_Mutation_p.T131N NM_015388 NP_056203 Q9GZM5 YIPF3_HUMAN natural killer cell-specific antigen KLIP1 182 cell differentiation integral to membrane|plasma membrane|transport vesicle 0 all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711) GCCCATCAGGGTGCCCTCCCG 0.587 NA 44 135 6.21074e-16 1.04126e-15 0.011902 1 0 PGK2 5232 broad.mit.edu 37 6 49754702 49754702 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:49754702G>T uc003ozu.2 - 1 306 c.199C>A c.(199-201)CCT>ACT p.P67T NM_138733 NP_620061 P07205 PGK2_HUMAN phosphoglycerate kinase 2 67 glycolysis cytosol ATP binding|phosphoglycerate kinase activity ovary(1) 1 Lung NSC(77;0.0402) ACACCATCAGGCCGACCTAGA 0.483 NA 42 62 2.54651e-27 4.71407e-27 0.006999 1 0 DST 667 broad.mit.edu 37 6 56819367 56819367 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:56819367G>T uc003pdf.2 - 1 47 c.19C>A c.(19-21)CTC>ATC p.L7I BEND6_uc010kab.2_5'Flank|BEND6_uc003pdg.2_5'Flank NM_001144769 NP_001138241 Q03001 DYST_HUMAN dystonin isoform 2 Error:Variant_position_missing_in_Q03001_after_alignment 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) AGCAAGACGAGGAAAGCCGCG 0.682 NA 7 14 8.12818e-05 9.34516e-05 0.001984 1 0 BEND6 221336 broad.mit.edu 37 6 56880084 56880084 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:56880084C>T uc010kab.2 + 4 1038 c.452C>T c.(451-453)TCT>TTT p.S151F BEND6_uc003pdi.3_Missense_Mutation_p.S53F NM_152731 NP_689944 Q5SZJ8 BEND6_HUMAN BEN domain containing 6 151 0 TGCAGTAATTCTAATTCTAAC 0.458 NA 20 23 0 0 0.008871 0 0 BAI3 577 broad.mit.edu 37 6 70071353 70071353 + Silent SNP A A T rs144565451 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:70071353A>T uc003pev.3 + 29 4636 c.4188A>T c.(4186-4188)GCA>GCT p.A1396A BAI3_uc010kak.2_Silent_p.A1396A|BAI3_uc011dxx.1_Silent_p.A602A NM_001704 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 1396 Cytoplasmic (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) ATGATAATGCAGGACTATCAA 0.403 NA 19 34 0 0 0.008871 0 0 RIMS1 22999 broad.mit.edu 37 6 73102455 73102455 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:73102455G>T uc003pga.2 + 31 4638 c.4561G>T c.(4561-4563)GAT>TAT p.D1521Y RIMS1_uc011dyb.1_Missense_Mutation_p.D918Y|RIMS1_uc003pgc.2_Missense_Mutation_p.D970Y|RIMS1_uc010kaq.2_Missense_Mutation_p.D841Y|RIMS1_uc011dyc.1_Missense_Mutation_p.D646Y|RIMS1_uc010kar.2_Missense_Mutation_p.D589Y|RIMS1_uc011dyd.1_Missense_Mutation_p.D655Y|RIMS1_uc003pgf.2_Missense_Mutation_p.D521Y|RIMS1_uc003pgg.2_Missense_Mutation_p.D417Y|RIMS1_uc003pgi.2_Missense_Mutation_p.D337Y|RIMS1_uc003pgh.2_Missense_Mutation_p.D388Y|RIMS1_uc003pgd.2_Missense_Mutation_p.D587Y|RIMS1_uc003pge.2_Missense_Mutation_p.D561Y|RIMS1_uc011dye.1_Missense_Mutation_p.D327Y|RIMS1_uc011dyf.1_Missense_Mutation_p.D145Y|RIMS1_uc011dyg.1_Missense_Mutation_p.D48Y NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1521 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) TGATTTTCTTGATGGATTGGG 0.408 NA 19 43 2.89027e-11 4.31114e-11 0.002299 1 0 CNR1 1268 broad.mit.edu 37 6 88853946 88853946 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:88853946C>G uc011dzq.1 - 2 4611 c.1048G>C c.(1048-1050)GTG>CTG p.V350L CNR1_uc010kbz.2_Missense_Mutation_p.V350L|CNR1_uc011dzr.1_Missense_Mutation_p.V350L|CNR1_uc011dzs.1_Missense_Mutation_p.V350L|CNR1_uc003pmq.3_Missense_Mutation_p.V350L|CNR1_uc011dzt.1_Missense_Mutation_p.V350L|CNR1_uc010kca.2_Missense_Mutation_p.V317L NM_001160260 NP_001153732 P21554 CNR1_HUMAN cannabinoid receptor 1 isoform a 350 Helical; Name=6; (Potential). G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding p.V350V(1) skin(2) 2 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) ATCAACACCACCAGGATCAGG 0.522 NA 5 120 0 0 0.001168 0 0 CLVS2 134829 broad.mit.edu 37 6 123332140 123332140 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:123332140G>A uc003pzi.1 + 3 1269 c.400G>A c.(400-402)GTG>ATG p.V134M NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN retinaldehyde binding protein 1-like 2 134 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 5 GTACACACTGGTGGATATTTT 0.363 NA 27 50 0 0 0.007291 0 0 LAMA2 3908 broad.mit.edu 37 6 129762043 129762043 + Silent SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:129762043A>G uc003qbn.2 + 43 6273 c.6168A>G c.(6166-6168)ACA>ACG p.T2056T LAMA2_uc003qbo.2_Silent_p.T2056T NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2056 Domain II and I.|Potential. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CACAGATTACAGAGCTCCACC 0.463 NA 11 25 0 0 0.010729 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091866 143091866 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:143091866C>T uc003qjd.2 - 5 4753 c.4010G>A c.(4009-4011)CGG>CAG p.R1337Q NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 1337 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGTCTGGATCCGAACAGGAAC 0.488 Esophageal Squamous(107;843 1510 13293 16805 42198) NA 15 66 0 0 0.00245 0 0 GRM1 2911 broad.mit.edu 37 6 146351126 146351126 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:146351126G>A uc010khw.1 + 2 943 c.473G>A c.(472-474)GGA>GAA p.G158E GRM1_uc010khu.1_Missense_Mutation_p.G158E|GRM1_uc010khv.1_Missense_Mutation_p.G158E|GRM1_uc003qll.2_Missense_Mutation_p.G158E|GRM1_uc011edz.1_Missense_Mutation_p.G158E|GRM1_uc011eea.1_Missense_Mutation_p.G158E NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 158 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCCATTGCGGGAGTGATCGGT 0.572 NA 4 81 0 0 0.009096 0 0 GRM1 2911 broad.mit.edu 37 6 146719925 146719925 + Missense_Mutation SNP C C T rs146996893 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:146719925C>T uc010khw.1 + 8 2220 c.1750C>T c.(1750-1752)CGC>TGC p.R584C GRM1_uc010khv.1_Missense_Mutation_p.R584C|GRM1_uc003qll.2_Missense_Mutation_p.R584C|GRM1_uc011edz.1_Missense_Mutation_p.R584C|GRM1_uc011eea.1_Missense_Mutation_p.R584C NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 584 Extracellular (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CATTCCTGTGCGCTATCTTGA 0.423 NA 7 174 0 0 0.001984 0 0 PARK2 5071 broad.mit.edu 37 6 162683678 162683678 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:162683678C>A uc003qtx.3 - 3 425 c.291G>T c.(289-291)CGG>CGT p.R97R PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_Intron|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Silent_p.R97R|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Silent_p.R97R NM_004562 NP_004553 O60260 PRKN2_HUMAN parkin isoform 1 97 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding upper_aerodigestive_tract(1) 1 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TCTGGGGCTCCCGCTCACAGC 0.582 NA 22 56 3.5997e-14 5.81562e-14 0.002299 1 0 THBS2 7058 broad.mit.edu 37 6 169640673 169640673 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:169640673C>A uc003qwt.2 - 7 1154 c.906G>T c.(904-906)CAG>CAT p.Q302H NM_003247 NP_003238 P35442 TSP2_HUMAN thrombospondin 2 precursor 302 cell adhesion extracellular region calcium ion binding|heparin binding|protein binding|structural molecule activity ovary(5) 5 Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247) OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379) CCCAGAGAAACTGGTTATCAT 0.433 Esophageal Squamous(91;219 1934 18562 44706) NA 7 32 0.00198382 0.00216101 0.001984 1 0 CARD11 84433 broad.mit.edu 37 7 2976714 2976714 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:2976714C>G uc003smv.2 - 9 1702 c.1298G>C c.(1297-1299)AGC>ACC p.S433T NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 433 Potential. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1) 50 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CCGCAGCTTGCTCTCCAGGTT 0.642 NA Mis DLBCL 21 47 0 0 0.002299 0 0 RNF216 54476 broad.mit.edu 37 7 5760761 5760761 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:5760761T>A uc003soy.1 - 9 1566 c.1376A>T c.(1375-1377)AAG>ATG p.K459M RNF216_uc010ksz.1_Missense_Mutation_p.K81M|RNF216_uc010kta.1_Missense_Mutation_p.K81M|RNF216_uc011jwj.1_Missense_Mutation_p.K81M|RNF216_uc003sox.1_Missense_Mutation_p.K516M NM_207116 NP_996999 Q9NWF9 RN216_HUMAN ring finger protein 216 isoform b 459 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus|nucleus ligase activity|protein binding|protein binding|zinc ion binding ovary(3)|breast(2) 5 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) ATGTCGTCGCTTATTTTCAAG 0.428 NA 29 62 0 0 0.005443 0 0 HDAC9 9734 broad.mit.edu 37 7 18688117 18688117 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:18688117C>T uc003suh.2 + 10 1310 c.1269C>T c.(1267-1269)CCC>CCT p.P423P HDAC9_uc003sue.2_Silent_p.P423P|HDAC9_uc011jyd.1_Silent_p.P423P|HDAC9_uc003sui.2_Silent_p.P426P|HDAC9_uc003suj.2_Silent_p.P382P|HDAC9_uc011jya.1_Silent_p.P420P|HDAC9_uc003sua.1_Silent_p.P401P|HDAC9_uc011jyb.1_Silent_p.P379P|HDAC9_uc003sud.1_Silent_p.P423P|HDAC9_uc011jyc.1_Silent_p.P382P|HDAC9_uc003suf.1_Silent_p.P454P|HDAC9_uc010kud.1_Silent_p.P426P|HDAC9_uc011jye.1_Silent_p.P395P|HDAC9_uc011jyf.1_Silent_p.P346P|HDAC9_uc010kue.1_Silent_p.P166P NM_058176 NP_478056 Q9UKV0 HDAC9_HUMAN histone deacetylase 9 isoform 1 423 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|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 binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity lung(2)|central_nervous_system(2)|kidney(1) 5 all_lung(11;0.187) Valproic Acid(DB00313) CTCAGTCTCCCTTGGCAACAA 0.368 NA 18 98 0 0 0.008871 0 0 DNAH11 8701 broad.mit.edu 37 7 21784546 21784546 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:21784546G>C uc003svc.2 + 52 8427 c.8396G>C c.(8395-8397)AGA>ACA p.R2799T NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2799 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 TTTGCTGATAGAGGGAAGGAC 0.443 NA Kartagener_syndrome 7 17 0 0 0.001984 0 0 HOXA5 3202 broad.mit.edu 37 7 27182927 27182927 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:27182927C>A uc003syn.1 - 1 361 c.300G>T c.(298-300)CCG>CCT p.P100P NM_019102 NP_061975 P20719 HXA5_HUMAN homeobox A5 100 negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 AGCAGGGCAGCGGATCGGGCT 0.751 Colon(119;75 2200 7557 42868) NA 10 21 7.48243e-07 9.55661e-07 0.006214 1 0 GPR141 353345 broad.mit.edu 37 7 37780847 37780847 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:37780847C>T uc003tfm.1 + 1 852 c.852C>T c.(850-852)GTC>GTT p.V284V uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 284 Helical; Name=7; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 TTCTCTTTGTCTTTGGGGGAA 0.378 NA 18 59 0 0 0.00499 0 0 POU6F2 11281 broad.mit.edu 37 7 39247051 39247051 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:39247051C>A uc003thb.1 + 4 385 c.343C>A c.(343-345)CCA>ACA p.P115T POU6F2_uc010kxo.2_Missense_Mutation_p.P107T NM_007252 NP_009183 P78424 PO6F2_HUMAN POU class 6 homeobox 2 isoform 1 115 central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1) 1 GGGAGGCCCCCCAGCCCTCAA 0.577 NA 71 201 1.45978e-39 2.75983e-39 0.00361 1 0 HECW1 23072 broad.mit.edu 37 7 43447293 43447293 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:43447293T>A uc003tid.1 + 8 1369 c.764T>A c.(763-765)ATC>AAC p.I255N HECW1_uc011kbi.1_Missense_Mutation_p.I255N|HECW1_uc003tie.1_Missense_Mutation_p.I287N NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 255 C2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 AGATCCAAGATCATAGGCAAC 0.527 NA 18 35 0 0 0.002299 0 0 HECW1 23072 broad.mit.edu 37 7 43484732 43484732 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:43484732C>A uc003tid.1 + 11 2566 c.1961C>A c.(1960-1962)ACC>AAC p.T654N HECW1_uc011kbi.1_Missense_Mutation_p.T654N NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 654 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 CACCCCAGCACCGGGAGCGAG 0.721 NA 20 30 4.96729e-08 6.65874e-08 0.008871 1 0 NPC1L1 29881 broad.mit.edu 37 7 44560608 44560608 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:44560608G>A uc003tlb.2 - 13 3119 c.3063C>T c.(3061-3063)AAC>AAT p.N1021N NPC1L1_uc003tlc.2_Silent_p.N1021N|NPC1L1_uc011kbw.1_Silent_p.N975N|NPC1L1_uc003tla.2_Silent_p.N24N NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Niemann-Pick C1-like protein 1 isoform 1 1021 Cytoplasmic (Potential). cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding ovary(3)|central_nervous_system(1)|skin(1) 5 Ezetimibe(DB00973) GACATTTGATGTTGGGCCGGT 0.552 NA 68 183 0 0 0.00361 0 0 ADCY1 107 broad.mit.edu 37 7 45650033 45650033 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:45650033A>G uc003tne.3 + 3 863 c.845A>G c.(844-846)GAC>GGC p.D282G ADCY1_uc003tnd.2_Missense_Mutation_p.D57G NM_021116 NP_066939 Q08828 ADCY1_HUMAN adenylate cyclase 1 282 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 6 Adenosine(DB00640)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ATGAAGGAGGACTTCCTGAAG 0.612 NA 43 117 0 0 0.00361 0 0 ZPBP 11055 broad.mit.edu 37 7 50023026 50023026 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:50023026T>C uc003tou.2 - 7 943 c.873A>G c.(871-873)GAA>GAG p.E291E ZPBP_uc011kci.1_Silent_p.E217E|ZPBP_uc010kyw.2_Silent_p.E290E NM_007009 NP_008940 Q9BS86 ZPBP1_HUMAN zona pellucida binding protein isoform 1 291 binding of sperm to zona pellucida extracellular region 0 Glioma(55;0.08)|all_neural(89;0.245) GGAGAGTACCTTCAATATAGT 0.353 NA 11 26 0 0 0.010729 0 0 AUTS2 26053 broad.mit.edu 37 7 70255379 70255379 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:70255379G>T uc003tvw.3 + 19 3920 c.3177G>T c.(3175-3177)GAG>GAT p.E1059D AUTS2_uc003tvx.3_Missense_Mutation_p.E1035D|AUTS2_uc011keg.1_Missense_Mutation_p.E511D NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 1059 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGGGCGGAGAGCGCTTCCCGT 0.632 NA 7 27 5.18039e-06 6.35543e-06 0.00308 1 0 ABCB1 5243 broad.mit.edu 37 7 87160794 87160794 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:87160794G>A uc003uiz.1 - 22 2919 c.2501C>T c.(2500-2502)GCT>GTT p.A834V ABCB1_uc011khc.1_Missense_Mutation_p.A770V NM_000927 NP_000918 P08183 MDR1_HUMAN ATP-binding cassette, subfamily B, member 1 834 Helical; (Potential).|ABC transmembrane type-1 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity ovary(4)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 7 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) GGTAATTACAGCAAGCCTGGA 0.343 NA 15 29 0 0 0.00245 0 0 GTPBP10 85865 broad.mit.edu 37 7 89982211 89982211 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:89982211G>T uc003ukm.1 + 2 181 c.115G>T c.(115-117)GGT>TGT p.G39C GTPBP10_uc003uki.1_Missense_Mutation_p.G56C|GTPBP10_uc003ukj.1_Missense_Mutation_p.G30C|GTPBP10_uc003ukk.1_RNA|GTPBP10_uc003ukl.1_RNA|GTPBP10_uc003ukn.1_Missense_Mutation_p.G39C|GTPBP10_uc003uko.1_Translation_Start_Site NM_033107 NP_149098 A4D1E9 GTPBA_HUMAN GTP-binding protein 10 isoform 2 39 ribosome biogenesis chromosome|nucleolus GTP binding|GTPase activity|magnesium ion binding 0 AGGTGGAGAAGGTGGAAAAGG 0.433 NA 16 28 6.94344e-10 1.00438e-09 0.006122 1 0 DYNC1I1 1780 broad.mit.edu 37 7 95726882 95726882 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:95726882G>T uc003uoc.3 + 17 2192 c.1915G>T c.(1915-1917)GGC>TGC p.G639C DYNC1I1_uc003uod.3_Missense_Mutation_p.G622C|DYNC1I1_uc003uob.2_Missense_Mutation_p.G602C|DYNC1I1_uc003uoe.3_Missense_Mutation_p.G619C|DYNC1I1_uc010lfl.2_Missense_Mutation_p.G628C NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 639 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CGAGGAGGAAGGCACTGTTGA 0.512 NA 14 47 1.49906e-05 1.80003e-05 0.00245 1 0 STAG3 10734 broad.mit.edu 37 7 99809090 99809090 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:99809090G>T uc003utx.1 + 31 3598 c.3443G>T c.(3442-3444)AGG>ATG p.R1148M STAG3_uc011kjk.1_Missense_Mutation_p.R1090M|GATS_uc003uty.3_RNA|GATS_uc003utz.3_Intron|GATS_uc003uua.3_Intron|GATS_uc010lgt.2_Intron|STAG3_uc003uub.1_Missense_Mutation_p.R373M|GATS_uc011kjl.1_RNA|GATS_uc010lgu.2_RNA NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 1148 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGAGGTCAAGGTTCTTGGGT 0.517 NA 48 135 3.10996e-30 5.8441e-30 0.00361 1 0 ZAN 7455 broad.mit.edu 37 7 100361433 100361433 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:100361433C>G uc003uwj.2 + 21 4156 c.3991C>G c.(3991-3993)CAG>GAG p.Q1331E ZAN_uc003uwk.2_Missense_Mutation_p.Q1331E|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA|ZAN_uc011kkd.1_Intron NM_003386 NP_003377 Q9Y493 ZAN_HUMAN zonadhesin isoform 3 1331 VWFD 1.|Extracellular (Potential). binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2) 11 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) TTGCAGGTGTCAGAAGTACCA 0.597 NA 6 117 0 0 0.001984 0 0 MUC17 140453 broad.mit.edu 37 7 100696348 100696348 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:100696348G>A uc003uxp.1 + 10 13238 c.13185G>A c.(13183-13185)GTG>GTA p.V4395V MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 4395 Helical; (Potential). extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACGGCCTCGTGGGGGCAGGGG 0.597 NA 13 64 0 0 0.001368 0 0 LRWD1 222229 broad.mit.edu 37 7 102108574 102108574 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:102108574G>T uc003uzn.2 + 6 882 c.744G>T c.(742-744)GCG>GCT p.A248A LRWD1_uc003uzo.2_Silent_p.A96A NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN leucine-rich repeats and WD repeat domain 248 chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding skin(1) 1 GCAAGCGGGCGTGTGCCTCCC 0.682 NA 3 18 0.004672 0.00502765 0.004672 1 0 RELN 5649 broad.mit.edu 37 7 103205900 103205900 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:103205900A>T uc003vca.2 - 34 5195 c.5035T>A c.(5035-5037)TCC>ACC p.S1679T RELN_uc010liz.2_Missense_Mutation_p.S1679T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 1679 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ACACTGTGGGAGTTGCTGAAG 0.478 NSCLC(146;835 1944 15585 22231 52158) NA 7 22 0 0 0.001984 0 0 COG5 10466 broad.mit.edu 37 7 107204403 107204403 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:107204403G>T uc003ved.2 - 1 557 c.32C>A c.(31-33)TCT>TAT p.S11Y COG5_uc003vec.2_Missense_Mutation_p.S11Y|COG5_uc003vee.2_Missense_Mutation_p.S11Y|DUS4L_uc003veg.2_5'Flank|DUS4L_uc003veh.2_5'Flank|DUS4L_uc011klw.1_5'Flank|DUS4L_uc011klx.1_5'Flank NM_181733 NP_859422 Q9UP83 COG5_HUMAN component of oligomeric golgi complex 5 isoform 11 intra-Golgi vesicle-mediated transport|protein transport cytosol|Golgi membrane|Golgi transport complex|nucleus protein binding central_nervous_system(2)|skin(2) 4 TGGTGACGCAGAATCCCGGCG 0.701 NA 7 14 3.09899e-07 3.99083e-07 0.004482 1 0 DOCK4 9732 broad.mit.edu 37 7 111430661 111430661 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:111430661C>A uc003vfx.2 - 31 3436 c.3167G>T c.(3166-3168)GGA>GTA p.G1056V DOCK4_uc011kmm.1_5'Flank|DOCK4_uc003vfw.2_Missense_Mutation_p.G497V|DOCK4_uc003vfy.2_Missense_Mutation_p.G1092V NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1056 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) CTTGTGCTCTCCTAAAGTGAG 0.323 NA 7 17 8.12818e-05 9.34516e-05 0.001984 1 0 C7orf58 79974 broad.mit.edu 37 7 120884330 120884330 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:120884330C>A uc003vjq.3 + 18 2695 c.2248C>A c.(2248-2250)CAC>AAC p.H750N C7orf58_uc003vjs.3_Missense_Mutation_p.H750N|C7orf58_uc003vjt.3_Missense_Mutation_p.H530N NM_024913 NP_079189 A4D0V7 CG058_HUMAN hypothetical protein LOC79974 isoform 1 750 endoplasmic reticulum ovary(4)|large_intestine(2)|skin(2)|pancreas(1) 9 all_neural(327;0.117) CTGGCAGCCCCACAACTGCCA 0.493 NA 22 60 7.45023e-12 1.13858e-11 0.010504 1 0 PTPRZ1 5803 broad.mit.edu 37 7 121651931 121651931 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:121651931A>G uc003vjy.2 + 12 3226 c.2831A>G c.(2830-2832)TAC>TGC p.Y944C PTPRZ1_uc003vjz.2_Intron|PTPRZ1_uc011knt.1_Intron NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 944 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 ACTGTTTCTTACAGTTCTGCA 0.453 NA 32 89 0 0 0.012213 0 0 IMPDH1 3614 broad.mit.edu 37 7 128034398 128034398 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:128034398C>T uc011kol.1 - 13 1563 c.1457G>A c.(1456-1458)GGA>GAA p.G486E IMPDH1_uc011kom.1_Missense_Mutation_p.G481E|IMPDH1_uc003vmt.2_Missense_Mutation_p.G461E|IMPDH1_uc003vmu.2_Missense_Mutation_p.G571E|IMPDH1_uc003vmw.2_Missense_Mutation_p.G561E|IMPDH1_uc011kon.1_Missense_Mutation_p.G538E|IMPDH1_uc003vmv.2_Missense_Mutation_p.G535E|IMPDH1_uc003vmx.2_Missense_Mutation_p.G494E|IMPDH1_uc003vmy.2_Missense_Mutation_p.G502E|uc011koo.1_5'Flank NM_001142573 NP_001136045 P20839 IMDH1_HUMAN inosine monophosphate dehydrogenase 1 isoform e 486 GMP biosynthetic process|purine base metabolic process cytosol|nucleus DNA binding|IMP dehydrogenase activity|metal ion binding skin(2)|lung(1)|central_nervous_system(1) 4 Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352) CTTGAGCTCTCCTGAGTACAT 0.577 NA 8 81 0 0 0.004482 0 0 FLNC 2318 broad.mit.edu 37 7 128488078 128488078 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:128488078C>T uc003vnz.3 + 26 4745 c.4536C>T c.(4534-4536)CCC>CCT p.P1512P FLNC_uc003voa.3_Silent_p.P1512P NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 1512 Filamin 13. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 CTGACGGGCCCTACACGGTAG 0.662 NA 6 12 0 0 0.001168 0 0 TRYX3 136541 broad.mit.edu 37 7 141952344 141952344 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:141952344G>T uc003vxb.2 - 4 844 c.524C>A c.(523-525)ACG>AAG p.T175K TRYX3_uc003vxc.3_Missense_Mutation_p.T175K NM_001001317 NP_001001317 Q8IYP2 PRS58_HUMAN trypsin X3 precursor 175 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity 0 Melanoma(164;0.0272) CATATTTTCCGTGATGTTGTA 0.433 NA 28 75 1.88708e-17 3.23352e-17 0.008361 1 0 TRPV5 56302 broad.mit.edu 37 7 142627152 142627152 + Splice_Site SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:142627152C>A uc003wby.1 - 3 613 c.349_splice c.e3+1 p.G117_splice TRPV5_uc003wbz.2_Splice_Site_p.G117_splice NM_019841 NP_062815 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, 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) AGGCTCCTTACCTGCAAAAGC 0.537 NA 35 86 1.36161e-19 2.43369e-19 0.004289 1 0 OR6B1 135946 broad.mit.edu 37 7 143701161 143701161 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:143701161G>T uc003wdt.1 + 1 72 c.72G>T c.(70-72)CGG>CGT p.R24R NM_001005281 NP_001005281 O95007 OR6B1_HUMAN olfactory receptor, family 6, subfamily B, 24 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.0783) TGAGTATGCGGGCAGCCATGT 0.502 NA 19 41 3.8784e-16 6.51991e-16 0.012319 1 0 OR2A5 393046 broad.mit.edu 37 7 143748127 143748127 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:143748127C>G uc011ktw.1 + 1 633 c.633C>G c.(631-633)CTC>CTG p.L211L NM_012365 NP_036497 Q96R48 OR2A5_HUMAN olfactory receptor, family 2, subfamily A, 211 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Melanoma(164;0.0783) TGGGGCCGCTCTGCCTGGTGC 0.602 NA 69 172 0 0 0.00361 0 0 EZH2 2146 broad.mit.edu 37 7 148515173 148515173 + Missense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:148515173C>T uc003wfd.1 - 10 1187 c.1021G>A c.(1021-1023)GAG>AAG p.E341K EZH2_uc011kug.1_Missense_Mutation_p.E332K|EZH2_uc003wfb.1_Missense_Mutation_p.E346K|EZH2_uc003wfc.1_Missense_Mutation_p.E302K|EZH2_uc011kuh.1_Missense_Mutation_p.E332K|EZH2_uc011kui.1_Missense_Mutation_p.E341K|EZH2_uc011kuj.1_RNA NM_004456 NP_004447 Q15910 EZH2_HUMAN enhancer of zeste 2 isoform a 341 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1) 183 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) TTTATCCGCTCAGCGGTGAGA 0.498 NA Mis DLBCL 15 149 0 0 0.00245 0 0 SSPO 23145 broad.mit.edu 37 7 149491894 149491894 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:149491894C>A uc010lpk.2 + 42 6095 c.6095C>A c.(6094-6096)ACG>AAG p.T2032K NM_198455 NP_940857 A2VEC9 SSPO_HUMAN SCO-spondin precursor 2032 cell adhesion extracellular space peptidase inhibitor activity 0 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGAACCAGACGGTCCAGCCC 0.617 NA 13 72 2.68362e-12 4.12151e-12 0.001368 1 0 DPP6 1804 broad.mit.edu 37 7 154172070 154172070 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:154172070T>C uc003wlk.2 + 3 534 c.405T>C c.(403-405)GAT>GAC p.D135D DPP6_uc003wli.2_Silent_p.D71D|DPP6_uc003wlj.2_Silent_p.D135D|DPP6_uc010lqh.1_Silent_p.D73D|DPP6_uc003wlm.2_Silent_p.D73D|DPP6_uc011kvq.1_Silent_p.D73D NM_130797 NP_570629 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 isoform 1 135 Extracellular (Potential). cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity pancreas(3)|breast(1) 4 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CTGTAGAAGATCTCTTCAGTG 0.403 NSCLC(125;1384 1783 2490 7422 34254) NA 7 60 0 0 0.001984 0 0 MYOM2 9172 broad.mit.edu 37 8 2046747 2046747 + Missense_Mutation SNP G G T rs34863717 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:2046747G>T uc003wpx.3 + 19 2512 c.2374G>T c.(2374-2376)GGC>TGC p.G792C MYOM2_uc011kwi.1_Missense_Mutation_p.G217C NM_003970 NP_003961 P54296 MYOM2_HUMAN myomesin 2 792 Fibronectin type-III 4. muscle contraction myosin filament structural constituent of muscle ovary(4)|central_nervous_system(1)|skin(1) 6 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) CAACCTGGCCGGCATCGGGGA 0.562 NA 5 13 0.000602214 0.000670085 0.000602 1 0 CSMD1 64478 broad.mit.edu 37 8 3443742 3443742 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:3443742C>A uc011kwk.1 - 9 1531 c.1141G>T c.(1141-1143)GTG>TTG p.V381L NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor 381 Extracellular (Potential).|Sushi 2. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCCTGGAGCACGTAATTGTCC 0.448 NA 3 12 0.004672 0.00502765 0.004672 1 0 CHRNB3 1142 broad.mit.edu 37 8 42586918 42586918 + Missense_Mutation SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:42586918C>G uc003xpi.1 + 5 596 c.468C>G c.(466-468)GAC>GAG p.D156E NM_000749 NP_000740 Q05901 ACHB3_HUMAN cholinergic receptor, nicotinic, beta 156 Extracellular (Potential). synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane nicotinic acetylcholine-activated cation-selective channel activity|receptor activity ovary(1) 1 all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869) GCACCATGGACGTCACGTTTT 0.507 NA 8 46 0 0 0.00308 0 0 CPA6 57094 broad.mit.edu 37 8 68421816 68421816 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:68421816G>A uc003xxq.3 - 5 726 c.470C>T c.(469-471)TCA>TTA p.S157L CPA6_uc003xxr.3_Missense_Mutation_p.S9L|CPA6_uc003xxs.2_Missense_Mutation_p.S157L NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 isoform 1 precursor 157 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AATGAGGCCTGAGTGAGTTTT 0.303 NA 11 42 0 0 0.001368 0 0 PRDM14 63978 broad.mit.edu 37 8 70981566 70981566 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:70981566T>A uc003xym.2 - 2 732 c.530A>T c.(529-531)CAG>CTG p.Q177L NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 177 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) ATCCTCTGACTGCTTGCTGGG 0.567 NSCLC(129;99 1813 5906 40656 46114) NA 17 42 0 0 0.004007 0 0 ZFHX4 79776 broad.mit.edu 37 8 77766126 77766126 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:77766126G>A uc003yav.2 + 10 7221 c.6834G>A c.(6832-6834)AGG>AGA p.R2278R ZFHX4_uc003yau.1_Silent_p.R2323R|ZFHX4_uc003yaw.1_Silent_p.R2278R NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN zinc finger homeodomain 4 2278 C2H2-type 15; degenerate. 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) TTTTCCCCAGGATCTTTGACT 0.398 NA HNSCC(33;0.089) 24 95 0 0 0.002299 0 0 PEX2 5828 broad.mit.edu 37 8 77895700 77895700 + Missense_Mutation SNP T T A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:77895700T>A uc003yax.2 - 4 1173 c.715A>T c.(715-717)ACC>TCC p.T239S PEX2_uc003yay.2_Missense_Mutation_p.T239S|PEX2_uc003yaz.2_Missense_Mutation_p.T239S NM_000318 NP_000309 P28328 PEX2_HUMAN peroxin 2 239 peroxisome organization integral to peroxisomal membrane protein binding|zinc ion binding ovary(1) 1 TTGCCACTGGTGGCTAATGTA 0.428 NA 7 78 0 0 0.001984 0 0 CNGB3 54714 broad.mit.edu 37 8 87679339 87679339 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:87679339G>T uc003ydx.2 - 6 712 c.666C>A c.(664-666)CTC>CTA p.L222L CNGB3_uc010maj.2_Silent_p.L84L NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 222 Helical; Name=H1; (Potential). signal transduction|visual perception integral to membrane cGMP binding ovary(2)|pancreas(1) 3 TGACAAGCAAGAGCCACAGGA 0.438 NA 11 34 5.50884e-06 6.74507e-06 0.001368 1 0 CDH17 1015 broad.mit.edu 37 8 95189922 95189922 + Missense_Mutation SNP A A C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:95189922A>C uc003ygh.2 - 4 303 c.178T>G c.(178-180)TTT>GTT p.F60V CDH17_uc011lgo.1_Missense_Mutation_p.F60V|CDH17_uc011lgp.1_Missense_Mutation_p.F60V NM_004063 NP_004054 Q12864 CAD17_HUMAN cadherin 17 precursor 60 Extracellular (Potential).|Cadherin 1. integral to membrane calcium ion binding ovary(5)|skin(1) 6 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) GTTAGTTCAAAAGTCACAGCA 0.403 NA 22 43 0 0 0.010504 0 0 TM7SF4 81501 broad.mit.edu 37 8 105361457 105361457 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:105361457G>T uc003ylx.1 + 2 726 c.677G>T c.(676-678)GGC>GTC p.G226V NM_030788 NP_110415 Q9H295 TM7S4_HUMAN dendritic cell-specific transmembrane protein 226 Helical; (Potential). osteoclast differentiation cell surface|integral to membrane|plasma membrane pancreas(2)|large_intestine(1)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTCCTGCTTGGCACTGGCCTC 0.498 NA 20 78 1.37522e-17 2.3695e-17 0.007413 1 0 CSMD3 114788 broad.mit.edu 37 8 113253949 113253949 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:113253949C>A uc003ynu.2 - 66 10627 c.10468G>T c.(10468-10470)GTT>TTT p.V3490F CSMD3_uc003yns.2_Missense_Mutation_p.V2692F|CSMD3_uc003ynt.2_Missense_Mutation_p.V3450F|CSMD3_uc011lhx.1_Missense_Mutation_p.V3321F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 3490 Extracellular (Potential). integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CATTACTAACCACTTAGCTTT 0.308 NA HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 87 2.59497e-14 4.20331e-14 0.007835 1 0 ZHX1 11244 broad.mit.edu 37 8 124266145 124266145 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:124266145C>A uc003yqe.2 - 3 2472 c.2042G>T c.(2041-2043)CGG>CTG p.R681L C8orf76_uc003yqd.2_Intron|ZHX1_uc003yqf.2_Missense_Mutation_p.R681L|ZHX1_uc003yqg.2_Intron|ZHX1_uc010mdi.2_Missense_Mutation_p.R681L NM_007222 NP_009153 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 681 Homeobox 4. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CCACTGTGTCCGGACAAATGC 0.478 NA 29 52 5.77227e-19 1.0171e-18 0.008361 1 0 CYP11B2 1585 broad.mit.edu 37 8 143994821 143994821 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:143994821G>T uc003yxk.1 - 6 1004 c.1001C>A c.(1000-1002)CCC>CAC p.P334H NM_000498 NP_000489 P19099 C11B2_HUMAN cytochrome P450, family 11, subfamily B, 334 aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity 0 all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) Candesartan(DB00796)|Metyrapone(DB01011) CTGCACGTCGGGGTTCCGAGC 0.637 NA Familial_Hyperaldosteronism_type_I 33 86 1.36161e-19 2.43369e-19 0.004289 1 0 OPLAH 26873 broad.mit.edu 37 8 145108265 145108265 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:145108265C>A uc003zar.3 - 20 2800 c.2718G>T c.(2716-2718)AAG>AAT p.K906N OPLAH_uc003zas.1_Missense_Mutation_p.G181C NM_017570 NP_060040 O14841 OPLA_HUMAN 5-oxoprolinase (ATP-hydrolysing) 906 5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding 0 all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) L-Glutamic Acid(DB00142) AGTTGGGGACCTTGCCTGGCG 0.657 NA 14 64 6.31663e-08 8.43121e-08 0.003163 1 0 FREM1 158326 broad.mit.edu 37 9 14737474 14737474 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:14737474C>A uc003zlm.2 - 37 7050 c.6460G>T c.(6460-6462)GTT>TTT p.V2154F FREM1_uc010mic.2_RNA|FREM1_uc003zlk.2_RNA|FREM1_uc003zll.2_Missense_Mutation_p.V690F NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 2154 C-type lectin. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) TGTCTTTGAACCAAAACACAG 0.478 NA 7 24 2.0095e-06 2.49483e-06 0.001984 1 0 FRMPD1 22844 broad.mit.edu 37 9 37707468 37707468 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:37707468C>A uc004aag.1 + 3 201 c.157C>A c.(157-159)CCT>ACT p.P53T FRMPD1_uc004aah.1_Missense_Mutation_p.P53T NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 53 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) GACCCTCATCCCTGTGCGACA 0.502 NA 41 86 8.69298e-16 1.4535e-15 0.006999 1 0 FAM75A6 389730 broad.mit.edu 37 9 43627644 43627645 + Missense_Mutation DNP CC CC AA TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 CC CC - - CC CC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:43627644_43627645CC>AA uc011lrb.1 - 4 1071_1072 c.1042_1043GG>TT c.(1042-1044)GGA>TTA p.G348L NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 348 integral to membrane 0 TGTAAATGATCCAACATTTTCT 0.426 NA 104 72 0 0 0.004672 0 0 FAM75A6 389730 broad.mit.edu 37 9 43630516 43630516 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:43630516T>C uc011lrb.1 - 1 215 c.186A>G c.(184-186)AGA>AGG p.R62R NM_001145196 NP_001138668 Q5VVP1 F75A6_HUMAN hypothetical protein LOC389730 62 integral to membrane 0 TCCTTACCTTTCTCTTCCCAG 0.468 NA 61 40 0 0 0.00361 0 0 LOC442421 442421 broad.mit.edu 37 9 66499722 66499722 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:66499722C>T uc004aee.1 + 1 532 c.532C>T c.(532-534)CTG>TTG p.L178L LOC442421_uc004aed.1_RNA Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). 0 GCCCAATCTGCTGGACAGCCT 0.597 NA 8 102 0 0 0.008291 0 0 Unknown 0 broad.mit.edu 37 9 69067929 69067929 + Splice_Site SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:69067929G>A uc004afe.1 + 3 c.744_splice c.e3+1 uc010mnq.1_Splice_Site Homo sapiens cDNA, FLJ18209. NA TGATATGTTGGTGAGTCAGTT 0.209 NA 10 20 0 0 0.003163 0 0 FOXB2 442425 broad.mit.edu 37 9 79635314 79635314 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:79635314G>T uc004ako.1 + 1 744 c.744G>T c.(742-744)GGG>GGT p.G248G NM_001013735 NP_001013757 Q5VYV0 FOXB2_HUMAN forkhead box B2 248 brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding 0 CACCCTACGGGCTGGGCTCGg 0.378 NA 15 16 7.93312e-07 1.00908e-06 0.00245 1 0 NTRK2 4915 broad.mit.edu 37 9 87570366 87570366 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:87570366G>C uc004aoa.1 + 18 2996 c.2058G>C c.(2056-2058)GAG>GAC p.E686D NTRK2_uc004any.1_Missense_Mutation_p.E686D|NTRK2_uc004anz.1_Missense_Mutation_p.E702D NM_001018064 NP_001018074 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 686 Protein kinase.|Cytoplasmic (Potential). activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity lung(11)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|liver(1) 16 TGGTCGGGGAGAACTTGCTGG 0.597 NA TSP Lung(25;0.17) 6 34 0 0 0.00308 0 0 Unknown 0 broad.mit.edu 37 9 90744655 90744655 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:90744655C>A uc011lti.1 - 4 3326 c.3297G>T c.(3295-3297)CCG>CCT p.P1099P uc004apx.1_5'Flank SubName: Full=cDNA FLJ59639; NA CTGAGTAGAACGGGTGTCTGT 0.517 NA 97 120 4.01927e-73 7.73989e-73 0.00361 1 0 COL15A1 1306 broad.mit.edu 37 9 101749627 101749627 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:101749627C>A uc004azb.1 + 4 906 c.700C>A c.(700-702)CTG>ATG p.L234M NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 234 Nonhelical region 1 (NC1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) TCCCGAGGAGCTGTGTGACCC 0.642 NA 15 160 1.3612e-06 1.72438e-06 0.003163 1 0 PTGR1 22949 broad.mit.edu 37 9 114348369 114348369 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:114348369T>C uc004bfh.2 - 5 389 c.286A>G c.(286-288)ATT>GTT p.I96V PTGR1_uc011lwr.1_Missense_Mutation_p.I96V|PTGR1_uc004bfi.3_Missense_Mutation_p.I96V|PTGR1_uc004bfj.3_5'UTR|PTGR1_uc010mue.2_Missense_Mutation_p.I96V NM_012212 NP_036344 Q14914 PTGR1_HUMAN prostaglandin reductase 1 isoform 1 96 leukotriene metabolic process cytoplasm 15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding 0 CCATCAGAAATGGAGTGCGTT 0.473 Ovarian(200;132 2151 7551 19220 46064) NA 28 53 0 0 0.005443 0 0 PAPPA 5069 broad.mit.edu 37 9 119106938 119106938 + Missense_Mutation SNP G G T rs142176678 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:119106938G>T uc004bjn.2 + 14 4109 c.3728G>T c.(3727-3729)CGG>CTG p.R1243L PAPPA_uc011lxq.1_Missense_Mutation_p.R618L NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 1243 Sushi 1. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 GTGAGCTGCCGGACAGGCTAC 0.582 NA 33 45 2.80507e-11 4.19412e-11 0.012213 1 0 TLR4 7099 broad.mit.edu 37 9 120476646 120476646 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:120476646G>T uc004bjz.2 + 3 2531 c.2240G>T c.(2239-2241)TGT>TTT p.C747F TLR4_uc004bka.2_Missense_Mutation_p.C707F|TLR4_uc004bkb.2_Missense_Mutation_p.C547F NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 747 Cytoplasmic (Potential).|TIR. activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 AGCCGCTGGTGTATCTTTGAA 0.507 NA 4 68 0.00024832 0.000280318 0.009096 1 0 AK1 203 broad.mit.edu 37 9 130635071 130635071 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:130635071G>A uc004bsm.3 - 4 258 c.105C>T c.(103-105)ACC>ACT p.T35T NM_000476 NP_000467 P00568 KAD1_HUMAN adenylate kinase 1 35 ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion cytosol adenylate kinase activity|ATP binding|protein binding 0 TGGAGAGGTGGGTGTAGCCAT 0.617 NA 5 41 0 0 0.000602 0 0 ADAMTSL2 9719 broad.mit.edu 37 9 136405847 136405847 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:136405847C>A uc011mdl.1 + 6 1097 c.540C>A c.(538-540)TGC>TGA p.C180* ADAMTSL2_uc004cei.2_Nonsense_Mutation_p.C180* NM_001145320 NP_001138792 Q86TH1 ATL2_HUMAN ADAMTS-like 2 precursor 180 negative regulation of transforming growth factor beta receptor signaling pathway proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06) GAGGGGTTTGCGTGTCTGGAA 0.637 NA 16 26 3.52763e-06 4.33634e-06 0.00499 1 0 COL5A1 1289 broad.mit.edu 37 9 137630345 137630345 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:137630345G>T uc004cfe.2 + 10 1797 c.1415G>T c.(1414-1416)GGC>GTC p.G472V NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 472 Interrupted collagenous region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGCCCGCCTGGCCCAGAAGGC 0.642 NA 7 76 1.58986e-06 1.99374e-06 0.008291 1 0 SOHLH1 402381 broad.mit.edu 37 9 138588531 138588531 + Silent SNP C C G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:138588531C>G uc004cgl.2 - 5 649 c.588G>C c.(586-588)ACG>ACC p.T196T SOHLH1_uc010nbe.2_Silent_p.T196T NM_001012415 NP_001012415 Q5JUK2 SOLH1_HUMAN spermatogenesis and oogenesis specific basic 196 cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleus DNA binding breast(1)|central_nervous_system(1) 2 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05) TGCCCAGGGACGTGCAGCTCG 0.667 NA 17 26 0 0 0.00499 0 0 MAMDC4 158056 broad.mit.edu 37 9 139747556 139747556 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:139747556G>T uc004cjs.2 + 2 99 c.49G>T c.(49-51)GGG>TGG p.G17W MAMDC4_uc011mej.1_Translation_Start_Site NM_206920 NP_996803 Q6UXC1 AEGP_HUMAN apical early endosomal glycoprotein precursor 17 protein transport integral to membrane breast(4)|upper_aerodigestive_tract(2)|central_nervous_system(1) 7 all_cancers(76;0.0763)|all_epithelial(76;0.198) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171) CCCAGCAGCAGGGTCCTCAGG 0.463 NA 18 12 1.67942e-08 2.30087e-08 0.006122 1 0 TUBBP5 643224 broad.mit.edu 37 9 141071111 141071111 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr9:141071111G>T uc004com.2 + 4 775 c.514G>T c.(514-516)GGC>TGC p.G172C TUBBP5_uc010ncq.2_3'UTR RecName: Full=Putative tubulin beta-4q chain; 0 GCGCTTCCCAGGCCAGCTGAA 0.602 NA 4 75 1.23904e-05 1.49647e-05 0.000602 1 0 TLR7 51284 broad.mit.edu 37 X 12906090 12906090 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:12906090G>A uc004cvc.2 + 3 2602 c.2463G>A c.(2461-2463)AAG>AAA p.K821K NM_016562 NP_057646 Q9NYK1 TLR7_HUMAN toll-like receptor 7 precursor 821 Extracellular (Potential). cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity ovary(2)|lung(2)|breast(1) 5 Imiquimod(DB00724) GAGCACACAAGGGCCAAAGTG 0.488 NA 13 74 0 0 0.001855 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337276 13337276 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:13337276C>A uc010ned.2 - 1 1243 c.778G>T c.(778-780)GGA>TGA p.G260* NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN ataxin 3-like 260 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity lung(2)|ovary(2)|large_intestine(1)|skin(1) 6 GATGTGTTTCCGGAACTACCT 0.428 NA 10 330 1.58986e-06 1.99374e-06 0.008291 1 0 RAI2 10742 broad.mit.edu 37 X 17818712 17818712 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:17818712G>T uc004cyf.2 - 3 1989 c.1419C>A c.(1417-1419)TCC>TCA p.S473S RAI2_uc004cyg.2_Silent_p.S473S|RAI2_uc010nfa.2_Silent_p.S473S|RAI2_uc004cyh.3_Silent_p.S473S|RAI2_uc011miy.1_Silent_p.S423S NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 473 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) CCTGAAGCACGGAGTCTTCTC 0.478 NA 38 276 1.69901e-12 2.64858e-12 0.005524 1 0 BEND2 139105 broad.mit.edu 37 X 18230737 18230737 + Missense_Mutation SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:18230737T>C uc004cyj.3 - 4 594 c.440A>G c.(439-441)TAC>TGC p.Y147C BEND2_uc010nfb.2_Missense_Mutation_p.Y147C NM_153346 NP_699177 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 147 ovary(3)|kidney(1)|central_nervous_system(1) 5 CTCTGAGTTGTAACTGTATCT 0.338 NA 10 71 0 0 0.001855 0 0 CNKSR2 22866 broad.mit.edu 37 X 21444616 21444616 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:21444616T>C uc004czx.1 + 2 102 c.66T>C c.(64-66)GGT>GGC p.G22G CNKSR2_uc004czw.2_Silent_p.G22G|CNKSR2_uc011mjn.1_Silent_p.G22G|CNKSR2_uc011mjo.1_Silent_p.G22G NM_014927 NP_055742 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 22 SAM. regulation of signal transduction cytoplasm|membrane protein binding large_intestine(1)|lung(1) 2 ATTTTGTAGGTCTTGATGACT 0.413 NA 4 40 0 0 0.009096 0 0 MAGEB6 158809 broad.mit.edu 37 X 26212219 26212219 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:26212219G>T uc004dbr.2 + 2 405 c.256G>T c.(256-258)GCC>TCC p.A86S MAGEB6_uc010ngc.1_5'UTR NM_173523 NP_775794 Q8N7X4 MAGB6_HUMAN melanoma antigen family B, 6 86 Ser-rich. ovary(3) 3 CGATGTGGCTGCCAACGGCCA 0.542 NA 10 52 1.33987e-11 2.03268e-11 0.008291 1 0 MAGEB4 4115 broad.mit.edu 37 X 30261111 30261111 + Nonsense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:30261111G>T uc004dcb.2 + 1 943 c.859G>T c.(859-861)GAG>TAG p.E287* MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 287 MAGE. ovary(1) 1 GAAAGTCCTGGAGTTTTTGGC 0.512 NA 26 59 6.32553e-13 9.93556e-13 0.004656 1 0 FAM47C 442444 broad.mit.edu 37 X 37027649 37027649 + Missense_Mutation SNP C C T rs148424680 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:37027649C>T uc004ddl.1 + 1 1180 c.1166C>T c.(1165-1167)CCT>CTT p.P389L NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 389 ovary(3) 3 CGCGTACCTCCTCTCCGCCCA 0.617 NA 35 85 0 0 0.003755 0 0 MAOB 4129 broad.mit.edu 37 X 43662545 43662545 + Splice_Site SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:43662545A>T uc004dfz.3 - 4 560 c.384_splice c.e4+1 p.E128_splice MAOB_uc011mkx.1_Splice_Site_p.E112_splice|MAOB_uc011mky.1_Splice_Site_p.E112_splice NM_000898 NP_000889 P27338 AOFB_HUMAN monoamine oxidase B xenobiotic metabolic process integral to membrane|mitochondrial outer membrane electron carrier activity|primary amine oxidase activity ovary(1)|central_nervous_system(1) 2 Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752) AAGAAGCTTTACCTCTCGCCC 0.318 NA 4 45 0 0 0.009096 0 0 PHF16 9767 broad.mit.edu 37 X 46917891 46917891 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:46917891G>T uc004dgx.2 + 11 1935 c.1884G>T c.(1882-1884)TCG>TCT p.S628S PHF16_uc004dgy.2_Silent_p.S628S NM_001077445 NP_001070913 Q92613 JADE3_HUMAN PHD finger protein 16 628 histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex zinc ion binding 0 CCCCGTCCTCGGAGTGCTATC 0.537 NA 9 62 1.76689e-08 2.4101e-08 0.006214 1 0 NDUFB11 54539 broad.mit.edu 37 X 47002067 47002067 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:47002067A>T uc004dhd.2 - 2 815 c.284T>A c.(283-285)GTC>GAC p.V95D NDUFB11_uc004dhc.2_Missense_Mutation_p.V95D|RBM10_uc004dhe.1_5'Flank|RBM10_uc004dhf.2_5'Flank|RBM10_uc004dhg.2_5'Flank|RBM10_uc004dhh.2_5'Flank|RBM10_uc010nhq.2_5'Flank|RBM10_uc004dhi.2_5'Flank NM_001135998 NP_001129470 Q9NX14 NDUBB_HUMAN NADH dehydrogenase (ubiquinone) 1 beta 95 Helical; (Potential). respiratory electron transport chain|transport integral to membrane|mitochondrial respiratory chain complex I 0 GATGATGGAGACGCCAAAGAA 0.532 Ovarian(77;454 1296 7908 21551 37072) NA 23 67 0 0 0.00333 0 0 SLC35A2 7355 broad.mit.edu 37 X 48767203 48767203 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:48767203G>A uc004dlo.1 - 2 166 c.162C>T c.(160-162)ATC>ATT p.I54I SLC35A2_uc011mml.1_Silent_p.I67I|SLC35A2_uc004dlp.1_Silent_p.I54I|SLC35A2_uc011mmm.1_Silent_p.I82I|SLC35A2_uc011mmn.1_Intron|SLC35A2_uc004dlr.1_5'UTR|SLC35A2_uc004dlq.2_Silent_p.I54I|SLC35A2_uc011mmo.1_Silent_p.I67I NM_005660 NP_005651 P78381 S35A2_HUMAN solute carrier family 35, member A2 isoform a 54 Helical; (Potential). galactose metabolic process Golgi membrane|integral to membrane|nucleus sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity breast(1) 1 GGGCGTAGCGGATGCTGAGGA 0.612 NA 7 32 0 0 0.001984 0 0 MAGIX 79917 broad.mit.edu 37 X 49022560 49022560 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:49022560C>A uc010nin.1 + 6 874 c.827C>A c.(826-828)GCC>GAC p.A276D MAGIX_uc010nio.1_Missense_Mutation_p.A200D|MAGIX_uc004dmt.2_Missense_Mutation_p.A195D|MAGIX_uc004dmu.2_Missense_Mutation_p.A217D|MAGIX_uc004dmw.2_Missense_Mutation_p.A204D NM_024859 NP_079135 Q9H6Y5 MAGIX_HUMAN MAGI family member, X-linked isoform a 276 0 CCAGAGGCGGCCGCCGATGGC 0.687 NA 7 12 0.000157383 0.000179949 0.00308 1 0 FAM123B 139285 broad.mit.edu 37 X 63411318 63411318 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:63411318C>A uc004dvo.2 - 2 2122 c.1849G>T c.(1849-1851)GAA>TAA p.E617* NM_152424 NP_689637 Q5JTC6 F123B_HUMAN family with sequence similarity 123B 617 Wnt receptor signaling pathway cytoplasm|nucleus|plasma membrane p.0?(40) kidney(99)|large_intestine(6)|ovary(3)|lung(2)|breast(1)|liver(1) 112 CCATGAGCTTCCCAAGTGTGG 0.637 NA 5 39 0.000602214 0.000670085 0.000602 1 0 CXCR3 2833 broad.mit.edu 37 X 70837092 70837092 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:70837092A>T uc004eaf.2 - 2 298 c.230T>A c.(229-231)GTG>GAG p.V77E BCYRN1_uc011mpt.1_Intron|CXCR3_uc011mpx.1_Missense_Mutation_p.V124E NM_001504 NP_001495 P49682 CXCR3_HUMAN chemokine (C-X-C motif) receptor 3 isoform A 77 Helical; Name=1; (Potential). cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration cytoplasm|integral to plasma membrane C-X-C chemokine receptor activity ovary(2)|central_nervous_system(1) 3 Renal(35;0.156) GCTCAGCAGCACGGCTGCCAC 0.662 NA 3 8 0 0 0.004672 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649518 75649518 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:75649518G>C uc004ecm.1 + 1 1402 c.1195G>C c.(1195-1197)GGA>CGA p.G399R NM_020932 NP_065983 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 399 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|ovary(1)|pancreas(1)|skin(1) 6 CGCCCCTGACGGACCGGGAAG 0.642 NA 8 20 0 0 0.00308 0 0 FGF16 8823 broad.mit.edu 37 X 76711990 76711990 + Missense_Mutation SNP A A G TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:76711990A>G uc011mqp.1 + 2 601 c.328A>G c.(328-330)AGA>GGA p.R110G NM_003868 NP_003859 O43320 FGF16_HUMAN fibroblast growth factor 16 201 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus extracellular space growth factor activity lung(1) 1 CTCCATGTCCAGAGACCTCTT 0.502 NA 10 79 0 0 0.008291 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873704 91873704 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:91873704G>C uc004efk.1 + 7 4654 c.3809G>C c.(3808-3810)AGT>ACT p.S1270T PCDH11X_uc004efl.1_Missense_Mutation_p.S1260T|PCDH11X_uc004efo.1_Missense_Mutation_p.S1233T|PCDH11X_uc010nmv.1_3'UTR|PCDH11X_uc004efm.1_Missense_Mutation_p.S1262T|PCDH11X_uc004efn.1_Missense_Mutation_p.S1252T NM_032968 NP_116750 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked isoform c 1270 Cytoplasmic (Potential). homophilic cell adhesion integral to plasma membrane calcium ion binding large_intestine(2) 2 CTCCATCGTAGTCAGGCCCAA 0.552 NSCLC(38;925 1092 2571 38200 45895) NA 34 182 0 0 0.003755 0 0 TCEAL5 340543 broad.mit.edu 37 X 102529087 102529087 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:102529087T>C uc004ejz.1 - 3 700 c.405A>G c.(403-405)TTA>TTG p.L135L NM_001012979 NP_001012997 Q5H9L2 TCAL5_HUMAN transcription elongation factor A (SII)-like 5 135 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding lung(1)|breast(1) 2 GCCTTTCTTGTAAGTCCTCCT 0.512 NA 4 230 0 0 0.009096 0 0 NRK 203447 broad.mit.edu 37 X 105152724 105152724 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:105152724C>A uc004emd.2 + 13 1394 c.1091C>A c.(1090-1092)CCC>CAC p.P364H NRK_uc010npc.1_Missense_Mutation_p.P32H NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 364 ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 TTTAGAGGACCCTCTTGCACT 0.443 NA HNSCC(51;0.14) 9 52 2.17888e-05 2.58145e-05 0.006214 1 0 CXorf57 55086 broad.mit.edu 37 X 105882817 105882817 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:105882817G>T uc004emi.3 + 9 1785 c.1634G>T c.(1633-1635)AGG>ATG p.R545M CXorf57_uc004emj.3_Intron NM_018015 NP_060485 Q6NSI4 CX057_HUMAN hypothetical protein LOC55086 545 ovary(1)|lung(1)|breast(1) 3 TTGCAGTATAGGGAACAAAAG 0.408 NA 15 118 2.23348e-06 2.76738e-06 0.004007 1 0 TEX13B 56156 broad.mit.edu 37 X 107225222 107225222 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:107225222C>A uc004enn.1 - 2 229 c.136G>T c.(136-138)GTG>TTG p.V46L NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 46 ovary(1) 1 TTGTCTTCCACCTCCTCCCAG 0.597 NA 15 176 6.31663e-08 8.43121e-08 0.003163 1 0 IRS4 8471 broad.mit.edu 37 X 107977374 107977374 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:107977374C>A uc004eoc.2 - 1 2234 c.2201G>T c.(2200-2202)CGA>CTA p.R734L NM_003604 NP_003595 O14654 IRS4_HUMAN insulin receptor substrate 4 734 CRK-binding. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1) 10 AAAAGGGGATCGAGAGTGGCG 0.498 NA 20 170 5.35267e-07 6.87884e-07 0.007413 1 0 LHFPL1 340596 broad.mit.edu 37 X 111914478 111914478 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:111914478G>A uc004epq.2 - 2 474 c.141C>T c.(139-141)TTC>TTT p.F47F LHFPL1_uc004epp.2_Silent_p.F70F|LHFPL1_uc010nqa.2_Intron|LHFPL1_uc010nqb.2_Silent_p.F47F NM_178175 NP_835469 Q86WI0 LHPL1_HUMAN lipoma HMGIC fusion partner-like 1 precursor 47 integral to membrane 0 TGCACCTCCGGAATGTGCTGA 0.542 NA 14 233 0 0 0.00245 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221651 118221651 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:118221651C>A uc004era.3 - 11 3542 c.3542G>T c.(3541-3543)GGC>GTC p.G1181V NM_020721 NP_065772 Q9ULL0 K1210_HUMAN hypothetical protein LOC57481 1181 ovary(4)|skin(1) 5 GTTAGAAGTGCCTTCAACAGC 0.463 NA 7 53 1.26484e-09 1.81694e-09 0.00308 1 0 UBE2A 7319 broad.mit.edu 37 X 118709339 118709339 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:118709339C>A uc004erl.2 + 3 303 c.127C>A c.(127-129)CCT>ACT p.P43T UBE2A_uc004erm.2_Missense_Mutation_p.P43T|UBE2A_uc004ern.2_RNA|UBE2A_uc004ero.2_RNA NM_003336 NP_003327 P49459 UBE2A_HUMAN ubiquitin-conjugating enzyme E2A isoform 1 43 histone H2A ubiquitination|positive regulation of cell proliferation|postreplication repair|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|response to UV|ubiquitin-dependent protein catabolic process ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity 0 GTGTTGCAGGCCTGAAGGGAC 0.542 NA Direct_reversal_of_damage|Rad6_pathway 24 119 7.92952e-12 1.20886e-11 0.003954 1 0 RNF113A 7737 broad.mit.edu 37 X 119005497 119005497 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:119005497G>T uc004esb.2 - 1 295 c.80C>A c.(79-81)GCT>GAT p.A27D NDUFA1_uc004esc.3_5'Flank NM_006978 NP_008909 O15541 R113A_HUMAN ring finger protein 113A 27 nucleic acid binding|zinc ion binding breast(2) 2 GCGTCCAGCAGCCCCTTTCCG 0.597 NA 28 130 4.59853e-10 6.66733e-10 0.005443 1 0 SH2D1A 4068 broad.mit.edu 37 X 123480538 123480538 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:123480538G>T uc004euf.3 + 1 391 c.46G>T c.(46-48)GGC>TGC p.G16C SH2D1A_uc004euh.3_Missense_Mutation_p.G16C|SH2D1A_uc004eug.3_RNA|SH2D1A_uc010nqw.2_RNA|SH2D1A_uc004eui.3_RNA|SH2D1A_uc010nqx.2_Intron NM_002351 NP_002342 O60880 SH21A_HUMAN SH2 domain protein 1A isoform 1 16 SH2. G -> D (in XLP1; abolishes interaction with SLAMF1). cell-cell signaling|cellular defense response cytoplasm SH3/SH2 adaptor activity 0 CAGGGAAACCGGCGAGAAGCT 0.592 NA X-linked_Lymphoproliferative_syndrome 22 61 1.87028e-06 2.33597e-06 0.012319 1 0 XPNPEP2 7512 broad.mit.edu 37 X 128873207 128873207 + Missense_Mutation SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:128873207G>T uc004eut.1 + 1 262 c.18G>T c.(16-18)TGG>TGT p.W6C XPNPEP2_uc011mum.1_Missense_Mutation_p.W6C NM_003399 NP_003390 O43895 XPP2_HUMAN X-prolyl aminopeptidase 2, membrane-bound 6 cellular process|proteolysis anchored to membrane|plasma membrane aminopeptidase activity|metal ion binding|metalloexopeptidase activity 0 GGGCTCACTGGGGCTGCTGCC 0.637 NA 8 251 2.17888e-05 2.58145e-05 0.006214 1 0 BCORL1 63035 broad.mit.edu 37 X 129149581 129149581 + Nonsense_Mutation SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:129149581C>T uc004evb.1 + 4 2947 c.2833C>T c.(2833-2835)CGA>TGA p.R945* BCORL1_uc010nrd.1_Nonsense_Mutation_p.R847* NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN BCL6 co-repressor-like 1 945 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ovary(4)|breast(2)|lung(1) 7 TGGGGACATTCGAATGAATCA 0.577 NA 16 130 0 0 0.004007 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130218253 130218253 + Missense_Mutation SNP A A T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 A A - - A A Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:130218253A>T uc004evz.2 + 5 965 c.620A>T c.(619-621)CAG>CTG p.Q207L ARHGAP36_uc004ewa.2_Missense_Mutation_p.Q195L|ARHGAP36_uc004ewb.2_Missense_Mutation_p.Q176L|ARHGAP36_uc004ewc.2_Missense_Mutation_p.Q71L NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN hypothetical protein LOC158763 precursor 207 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3) 3 CAGACCCTGCAGCTTTCAAAA 0.478 NA 54 35 0 0 0.00361 0 0 MBNL3 55796 broad.mit.edu 37 X 131540343 131540343 + Silent SNP C C T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:131540343C>T uc004ewv.3 - 2 334 c.255G>A c.(253-255)CGG>CGA p.R85R uc004ewr.1_Intron|MBNL3_uc004eww.2_5'UTR|MBNL3_uc010nrl.1_RNA|MBNL3_uc004ews.2_5'UTR|MBNL3_uc004ewt.2_Silent_p.R35R|MBNL3_uc011muz.1_5'UTR|MBNL3_uc004ewu.3_Silent_p.R85R|MBNL3_uc004ewx.1_Silent_p.R35R NM_018388 NP_060858 Q9NUK0 MBNL3_HUMAN muscleblind-like 3 isoform G 85 mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding 0 Acute lymphoblastic leukemia(192;0.000127) TCAGATTGTTCCGCCCATTAA 0.488 NA 15 114 0 0 0.00245 0 0 MAGEC2 51438 broad.mit.edu 37 X 141291176 141291176 + Missense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:141291176C>A uc004fbu.1 - 3 946 c.598G>T c.(598-600)GTG>TTG p.V200L NM_016249 NP_057333 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 200 MAGE. cytoplasm|nucleus breast(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TCAGGGCCCACTTCTATCAGG 0.478 NA HNSCC(46;0.14) 184 121 3.73429e-81 7.25853e-81 0.00361 1 0 SLITRK2 84631 broad.mit.edu 37 X 144906475 144906475 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:144906475G>A uc004fcd.2 + 5 3522 c.2532G>A c.(2530-2532)CAG>CAA p.Q844Q SLITRK2_uc010nsp.2_Silent_p.Q844Q|SLITRK2_uc010nso.2_Silent_p.Q844Q|SLITRK2_uc011mwq.1_Silent_p.Q844Q|SLITRK2_uc011mwr.1_Silent_p.Q844Q|SLITRK2_uc011mws.1_Silent_p.Q844Q|SLITRK2_uc004fcg.2_Silent_p.Q844Q|SLITRK2_uc011mwt.1_Silent_p.Q844Q|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 844 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) CAATCAGTCAGCTGTGAAGGG 0.458 NA 72 51 0 0 0.00361 0 0 AFF2 2334 broad.mit.edu 37 X 148039929 148039929 + Silent SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:148039929C>A uc004fcp.2 + 12 3110 c.2631C>A c.(2629-2631)ATC>ATA p.I877I AFF2_uc004fcq.2_Silent_p.I867I|AFF2_uc004fcr.2_Silent_p.I838I|AFF2_uc011mxb.1_Silent_p.I842I|AFF2_uc004fcs.2_Silent_p.I844I|AFF2_uc011mxc.1_Silent_p.I518I NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 877 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) CCACAACTATCTGCTTGCTCC 0.512 NA 160 190 5.70634e-75 1.10228e-74 0.00361 1 0 MAMLD1 10046 broad.mit.edu 37 X 149638377 149638377 + Missense_Mutation SNP G G C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:149638377G>C uc004fee.1 + 3 608 c.532G>C c.(532-534)GAG>CAG p.E178Q MAMLD1_uc011mxt.1_Missense_Mutation_p.E140Q|MAMLD1_uc011mxu.1_Missense_Mutation_p.E153Q|MAMLD1_uc011mxv.1_Missense_Mutation_p.E153Q|MAMLD1_uc011mxw.1_Missense_Mutation_p.E105Q NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 178 male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) GGAGCTTCAAGAGCTGCTAGA 0.478 NA 17 170 0 0 0.00499 0 0 MAMLD1 10046 broad.mit.edu 37 X 149639648 149639648 + Silent SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:149639648G>A uc004fee.1 + 3 1879 c.1803G>A c.(1801-1803)CAG>CAA p.Q601Q MAMLD1_uc011mxt.1_Silent_p.Q563Q|MAMLD1_uc011mxu.1_Silent_p.Q576Q|MAMLD1_uc011mxv.1_Silent_p.Q576Q|MAMLD1_uc011mxw.1_Silent_p.Q528Q NM_005491 NP_005482 Q13495 MAMD1_HUMAN mastermind-like domain containing 1 601 Poly-Gln. male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus 0 Acute lymphoblastic leukemia(192;6.56e-05) agcagcagcagcaacagcagc 0.483 NA 5 216 0 0 0.001168 0 0 HCFC1 3054 broad.mit.edu 37 X 153215033 153215033 + Silent SNP G G T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:153215033G>T uc004fjp.2 - 25 6567 c.6039C>A c.(6037-6039)GCC>GCA p.A2013A NM_005334 NP_005325 P51610 HCFC1_HUMAN host cell factor 1 2013 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity ovary(2) 2 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCCGCTTGTTGGCTGGCTTGG 0.547 NA 12 170 0.000219431 0.000249975 0.00245 1 0 TMEM187 8269 broad.mit.edu 37 X 153247646 153247646 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:153247646G>A uc004fjq.2 + 2 667 c.133G>A c.(133-135)GTG>ATG p.V45M hsa-mir-3202-2|MI0014253_5'Flank NM_003492 NP_003483 Q14656 TM187_HUMAN transmembrane protein 187 45 Helical; (Potential). integral to membrane|transport vesicle 0 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGAGGCGCCCGTGGCCGGCCT 0.662 NA 17 180 0 0 0.007413 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716440 153716440 + Missense_Mutation SNP G G T rs151043660 TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:153716440G>T uc004flq.2 - 3 1104 c.840C>A c.(838-840)GAC>GAA p.D280E UBL4A_uc004flo.2_5'Flank|SLC10A3_uc004flr.2_Missense_Mutation_p.D251E|SLC10A3_uc004flp.2_Missense_Mutation_p.D280E NM_001142392 NP_001135864 P09131 P3_HUMAN solute carrier family 10, member 3 isoform 1 280 organic anion transport integral to membrane bile acid:sodium symporter activity p.D280N(1) ovary(1)|skin(1) 2 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCAGGGTGACGTCCCCTCCAA 0.622 NA 13 103 7.03913e-09 9.75131e-09 0.001368 1 0 F8 2157 broad.mit.edu 37 X 154158987 154158987 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:154158987T>C uc004fmt.2 - 14 3249 c.3078A>G c.(3076-3078)TCA>TCG p.S1026S NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 1026 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) TATTAGTTGCTGAATTATTGG 0.333 NA 60 57 0 0 0.00361 0 0 NFASC 23114 broad.mit.edu 37 1 204978720 204978721 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr1:204978720_204978721insA uc001hbj.2 + 28 3653_3654 c.3325_3326insA c.(3325-3327)GGCfs p.G1109fs NFASC_uc010pra.1_Frame_Shift_Ins_p.G1043fs|NFASC_uc001hbi.2_Frame_Shift_Ins_p.G1038fs|NFASC_uc010prb.1_Frame_Shift_Ins_p.G1058fs|NFASC_uc010prc.1_Frame_Shift_Ins_p.G609fs|NFASC_uc001hbl.1_Frame_Shift_Ins_p.G185fs|NFASC_uc001hbm.1_Frame_Shift_Ins_p.G132fs|NFASC_uc009xbh.1_5'UTR NM_001005388 NP_001005388 O94856 NFASC_HUMAN neurofascin isoform 1 precursor 1216 Extracellular (Potential). axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) CGCCACCCAGGGCTGGTTCATT 0.589 NA 17 115 --- --- --- --- NA NA NA NA NA OR51M1 390059 broad.mit.edu 37 11 5410741 5410741 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr11:5410741delG uc010qzc.1 + 1 113 c.113delG c.(112-114)TGGfs p.W38fs HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron NM_001004756 NP_001004756 B2RNI9 B2RNI9_HUMAN olfactory receptor, family 51, subfamily M, 38 integral to membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ATCAAACACTGGATTTTCATC 0.423 NA 12 175 --- --- --- --- NA NA NA NA NA NDRG2 57447 broad.mit.edu 37 14 21486164 21486164 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr14:21486164delG uc001vyy.2 - 16 1081 c.931delC c.(931-933)CTGfs p.L311fs NDRG2_uc010tll.1_Frame_Shift_Del_p.L307fs|NDRG2_uc001vyt.2_Frame_Shift_Del_p.L224fs|NDRG2_uc001vyu.2_Frame_Shift_Del_p.L268fs|NDRG2_uc001vyv.2_Frame_Shift_Del_p.L297fs|NDRG2_uc001vyw.2_Frame_Shift_Del_p.L297fs|NDRG2_uc001vzb.2_Frame_Shift_Del_p.L251fs|NDRG2_uc001vyx.2_Frame_Shift_Del_p.L311fs|NDRG2_uc001vza.2_Frame_Shift_Del_p.L297fs|NDRG2_uc001vyz.2_Frame_Shift_Del_p.L297fs|NDRG2_uc001vzc.2_Frame_Shift_Del_p.L281fs|NDRG2_uc001vze.2_Frame_Shift_Del_p.L311fs|NDRG2_uc001vzd.2_Frame_Shift_Del_p.L311fs|NDRG2_uc001vzg.2_Frame_Shift_Del_p.L297fs|NDRG2_uc001vzf.2_Frame_Shift_Del_p.L297fs|NDRG2_uc010aig.2_Frame_Shift_Del_p.L300fs NM_201540 NP_963834 Q9UN36 NDRG2_HUMAN N-myc downstream-regulated gene 2 isoform a 311 cell differentiation|nervous system development centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm ovary(1)|breast(1) 2 all_cancers(95;0.00185) OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08) GBM - Glioblastoma multiforme(265;0.0191) ATGCCTTGCAGGAAGTACTTG 0.562 NA 26 202 --- --- --- --- NA NA NA NA NA LRP3 4037 broad.mit.edu 37 19 33698115 33698116 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:33698115_33698116insA uc010edh.2 + 7 2040_2041 c.1947_1948insA c.(1945-1950)GACCCCfs p.D649fs LRP3_uc002nuk.3_Frame_Shift_Ins_p.D523fs NM_002333 NP_002324 O75074 LRP3_HUMAN low density lipoprotein receptor-related protein 649_650 Cytoplasmic (Potential). receptor-mediated endocytosis coated pit|integral to membrane receptor activity pancreas(2)|ovary(1) 3 Esophageal squamous(110;0.137) CTGCCCCCGACCCCCCAGCACC 0.743 NA 5 6 --- --- --- --- NA NA NA NA NA HKR1 284459 broad.mit.edu 37 19 37854204 37854204 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:37854204delG uc002ogb.2 + 6 1776 c.1507delG c.(1507-1509)GGGfs p.G503fs HKR1_uc002ofx.2_Frame_Shift_Del_p.G219fs|HKR1_uc002ofy.2_Frame_Shift_Del_p.G219fs|HKR1_uc002oga.2_Frame_Shift_Del_p.G485fs|HKR1_uc010xto.1_Frame_Shift_Del_p.G485fs|HKR1_uc002ogc.2_Frame_Shift_Del_p.G484fs|HKR1_uc010xtp.1_Frame_Shift_Del_p.G442fs|HKR1_uc002ogd.2_Frame_Shift_Del_p.G442fs NM_181786 NP_861451 P10072 HKR1_HUMAN GLI-Kruppel family member HKR1 503 C2H2-type 8. multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TACGGAGTGTGGGCGAGGCTT 0.532 NA 14 78 --- --- --- --- NA NA NA NA NA HNRNPUL1 11100 broad.mit.edu 37 19 41798236 41798237 + Frame_Shift_Ins INS - - T TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr19:41798236_41798237insT uc002oqb.3 + 8 1375_1376 c.1086_1087insT c.(1084-1089)GCCTTGfs p.A362fs CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Frame_Shift_Ins_p.A262fs|HNRNPUL1_uc002oqa.3_Frame_Shift_Ins_p.A262fs|HNRNPUL1_uc010ehm.2_Frame_Shift_Ins_p.A362fs|HNRNPUL1_uc002oqc.3_Frame_Shift_Ins_p.A248fs|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Frame_Shift_Ins_p.A262fs|HNRNPUL1_uc010ehn.2_Frame_Shift_Ins_p.A262fs|HNRNPUL1_uc010eho.2_Frame_Shift_Ins_p.A262fs|HNRNPUL1_uc010xvy.1_Frame_Shift_Ins_p.A262fs|HNRNPUL1_uc010ehp.2_Frame_Shift_Ins_p.A218fs|HNRNPUL1_uc010ehl.1_Frame_Shift_Ins_p.A262fs NM_007040 NP_008971 Q9BUJ2 HNRL1_HUMAN heterogeneous nuclear ribonucleoprotein U-like 1 362_363 B30.2/SPRY.|Necessary for interaction with TP53. nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent heterogeneous nuclear ribonucleoprotein complex|nucleoplasm enzyme binding|RNA binding central_nervous_system(1)|skin(1) 2 AGAAGGAAGCCTTGGGGGGTCA 0.505 NA 23 142 --- --- --- --- NA NA NA NA NA CTNNA2 1496 broad.mit.edu 37 2 79878782 79878783 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:79878782_79878783insA uc010ysh.1 + 1 105_106 c.100_101insA c.(100-102)CAGfs p.Q34fs CTNNA2_uc010yse.1_Frame_Shift_Ins_p.Q34fs|CTNNA2_uc010ysf.1_Frame_Shift_Ins_p.Q34fs|CTNNA2_uc010ysg.1_Frame_Shift_Ins_p.Q34fs|hsa-mir-4264|MI0015877_5'Flank NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 34 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ACTTGTTACACAGGTAAGGGAT 0.391 NA 18 53 --- --- --- --- NA NA NA NA NA COL5A2 1290 broad.mit.edu 37 2 189904256 189904257 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr2:189904256_189904257insA uc002uqk.2 - 51 3941_3942 c.3666_3667insT c.(3664-3669)CCTCCGfs p.P1222fs COL5A2_uc010frx.2_Frame_Shift_Ins_p.P798fs NM_000393 NP_000384 P05997 CO5A2_HUMAN alpha 2 type V collagen preproprotein 1222_1223 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) GGGGGACCCGGAGGGCCAGGTG 0.49 NA 8 48 --- --- --- --- NA NA NA NA NA NCOA6 23054 broad.mit.edu 37 20 33330968 33330970 + In_Frame_Del DEL TGC TGC - rs112895426 byFrequency TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 TGC TGC - - TGC TGC Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:33330968_33330970delTGC uc002xav.2 - 12 5661_5663 c.3090_3092delGCA c.(3088-3093)CAGCAA>CAA p.1030_1031QQ>Q NCOA6_uc002xaw.2_In_Frame_Del_p.1030_1031QQ>Q NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 1030_1031 NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 CATCATTtgttgctgctgctgct 0.498 NA 7 138 --- --- --- --- NA NA NA NA NA CTCFL 140690 broad.mit.edu 37 20 56094353 56094353 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr20:56094353delG uc010gix.1 - 3 1497 c.835delC c.(835-837)CACfs p.H279fs CTCFL_uc010giw.1_Frame_Shift_Del_p.H279fs|CTCFL_uc002xym.2_Frame_Shift_Del_p.H279fs|CTCFL_uc010giz.1_5'UTR|CTCFL_uc010giy.1_5'UTR|CTCFL_uc010gja.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gjb.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gjc.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gjd.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gje.2_Frame_Shift_Del_p.H279fs|CTCFL_uc010gjf.2_Frame_Shift_Del_p.H74fs|CTCFL_uc010gjg.2_Frame_Shift_Del_p.H11fs|CTCFL_uc010gjh.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gji.1_Frame_Shift_Del_p.H74fs|CTCFL_uc010gjj.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gjk.1_Frame_Shift_Del_p.H279fs|CTCFL_uc010gjl.1_Frame_Shift_Del_p.H279fs NM_080618 NP_542185 Q8NI51 CTCFL_HUMAN CCCTC-binding factor-like protein 279 C2H2-type 1. cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding ovary(2)|large_intestine(1)|skin(1) 4 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) TCACTGGTGTGAGTTTTCATA 0.458 NA 16 68 --- --- --- --- NA NA NA NA NA RNF160 26046 broad.mit.edu 37 21 30313665 30313666 + Frame_Shift_Ins INS - - A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr21:30313665_30313666insA uc002ymr.2 - 25 4509_4510 c.4496_4497insT c.(4495-4497)TTGfs p.L1499fs NM_015565 NP_056380 O94822 LTN1_HUMAN zinc finger protein 294 1453 ligase activity|zinc ion binding 0 GAATACACCCCAAAACATTTTC 0.366 NA 64 47 --- --- --- --- NA NA NA NA NA GAB4 128954 broad.mit.edu 37 22 17472833 17472833 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr22:17472833delG uc002zlw.2 - 2 516 c.408delC c.(406-408)ACCfs p.T136fs GAB4_uc010gqs.1_Frame_Shift_Del_p.T136fs NM_001037814 NP_001032903 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 136 PH. large_intestine(1)|ovary(1) 2 all_epithelial(15;0.112)|Lung NSC(13;0.248) TGTCCTCCCTGGTCTCAGCCA 0.502 NA 54 215 --- --- --- --- NA NA NA NA NA COL25A1 84570 broad.mit.edu 37 4 109861693 109861694 + Splice_Site INS - - C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 - - - - - - Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:109861693_109861694insC uc003hze.1 - 9 1203 c.672_splice c.e9+1 p.P224_splice COL25A1_uc003hzg.2_Splice_Site_p.P224_splice|COL25A1_uc003hzd.2_Intron|COL25A1_uc003hzf.2_Splice_Site_p.P5_splice NM_198721 NP_942014 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 isoform 1 collagen|extracellular space beta-amyloid binding|heparin binding ovary(2) 2 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) AAAGCGACTCACGGGTACTCCT 0.47 NA 25 112 --- --- --- --- NA NA NA NA NA DCHS2 54798 broad.mit.edu 37 4 155241794 155241794 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr4:155241794delG uc003inw.2 - 14 3392 c.3392delC c.(3391-3393)ACAfs p.T1131fs NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1131 Cadherin 9. 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) TGCTGTTACTGTCAGGATGAC 0.483 NA 39 150 --- --- --- --- NA NA NA NA NA DNAH5 1767 broad.mit.edu 37 5 13766239 13766239 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:13766239delG uc003jfd.2 - 59 9989 c.9947delC c.(9946-9948)CCTfs p.P3316fs DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3316 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GATGAGGTGAGGGGGGCGGCC 0.532 NA Kartagener_syndrome 71 135 --- --- --- --- NA NA NA NA NA THBS4 7060 broad.mit.edu 37 5 79372774 79372776 + In_Frame_Del DEL TGA TGA - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 TGA TGA - - TGA TGA Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:79372774_79372776delTGA uc003kgh.2 + 17 2312_2314 c.1989_1991delTGA c.(1987-1992)TGTGAT>TGT p.D668del uc003kgi.3_Intron NM_003248 NP_003239 P35443 TSP4_HUMAN thrombospondin 4 precursor 668 TSP type-3 7. endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation basement membrane|extracellular space calcium ion binding|heparin binding|integrin binding|structural molecule activity 0 Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34) GTGACGAGTGTGATGATGATGAT 0.562 NA 8 322 --- --- --- --- NA NA NA NA NA PCDHGA2 56113 broad.mit.edu 37 5 140719292 140719292 + Frame_Shift_Del DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr5:140719292delC uc003ljk.1 + 1 939 c.754delC c.(754-756)CCGfs p.P252fs PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc011dao.1_Frame_Shift_Del_p.P252fs NM_018915 NP_061738 Q9Y5H1 PCDG2_HUMAN protocadherin gamma subfamily A, 2 isoform 1 252 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CATAAGCATTCCGGAGAATAC 0.552 NA 41 62 --- --- --- --- NA NA NA NA NA BTN3A1 11119 broad.mit.edu 37 6 26411336 26411336 + Splice_Site DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:26411336delG uc003nhv.2 + 8 1333 c.965_splice c.e8-1 p.R322_splice BTN3A1_uc011dkj.1_Splice_Site_p.R322_splice|BTN3A1_uc011dkk.1_Splice_Site_p.R270_splice|BTN3A1_uc010jqj.2_Splice_Site_p.R322_splice NM_007048 NP_008979 O00481 BT3A1_HUMAN butyrophilin, subfamily 3, member A1 isoform a lipid metabolic process integral to membrane upper_aerodigestive_tract(1)|ovary(1) 2 TTTCATTGTAGGGGGAGAGAG 0.393 NA 16 137 --- --- --- --- NA NA NA NA NA TCP10 6953 broad.mit.edu 37 6 167791442 167791442 + Splice_Site DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr6:167791442delC uc003qvv.1 - 4 629 c.417_splice c.e4+1 p.K139_splice TCP10_uc003qvu.2_Splice_Site_p.K139_splice|TCP10_uc003qvw.2_Splice_Site_p.K115_splice NM_004610 NP_004601 Q12799 TCP10_HUMAN t-complex 10 cytosol breast(1) 1 Breast(66;1.53e-05)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386) CGAAGGGTCACCTTTGGAGGA 0.527 NA 10 132 --- --- --- --- NA NA NA NA NA HECW1 23072 broad.mit.edu 37 7 43283514 43283514 + Frame_Shift_Del DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr7:43283514delC uc003tid.1 + 3 615 c.10delC c.(10-12)CACfs p.H4fs HECW1_uc011kbi.1_Frame_Shift_Del_p.H4fs|HECW1_uc003tie.1_Intron NM_015052 NP_055867 Q76N89 HECW1_HUMAN NEDD4-like ubiquitin-protein ligase 1 4 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus ubiquitin-protein ligase activity ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1) 23 TATGCTGCTGCACCTGTGTAG 0.448 NA 21 63 --- --- --- --- NA NA NA NA NA ANK1 286 broad.mit.edu 37 8 41552150 41552150 + Frame_Shift_Del DEL G G - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 G G - - G G Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chr8:41552150delG uc003xok.2 - 28 3371 c.3287delC c.(3286-3288)CCGfs p.P1096fs NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.2_Frame_Shift_Del_p.P412fs|ANK1_uc003xoi.2_Frame_Shift_Del_p.P1096fs|ANK1_uc003xoj.2_Frame_Shift_Del_p.P1096fs|ANK1_uc003xol.2_Frame_Shift_Del_p.P1096fs|ANK1_uc003xom.2_Frame_Shift_Del_p.P1137fs NM_020476 NP_065209 P16157 ANK1_HUMAN ankyrin 1 isoform 1 1096 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GGCATTCTCCGGGAACGTTGC 0.632 NA 7 24 --- --- --- --- NA NA NA NA NA FANCB 2187 broad.mit.edu 37 X 14871289 14871289 + Frame_Shift_Del DEL C C - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 C C - - C C Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:14871289delC uc004cwg.1 - 6 1466 c.1198delG c.(1198-1200)GTTfs p.V400fs FANCB_uc004cwh.1_Frame_Shift_Del_p.V400fs NM_001018113 NP_001018123 Q8NB91 FANCB_HUMAN Fanconi anemia complementation group B 400 DNA repair nucleoplasm lung(1) 1 Hepatocellular(33;0.183) GAAAAACAAACCTGTAAAGTA 0.308 NA Involved_in_tolerance_or_repair_of_DNA_crosslinks FanconAnemia 9 28 --- --- --- --- NA NA NA NA NA MAGEA6 4105 broad.mit.edu 37 X 151870201 151870201 + Frame_Shift_Del DEL T T - TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 T T - - T T Unknown Untested Somatic Unspecified WXS none NA NA Illumina HiSeq 1279b038-abe8-4ac4-accb-8a566da2b2fc e05893e7-9426-44cc-8f63-c4e6e4daf500 g.chrX:151870201delT uc004ffq.1 + 3 1085 c.891delT c.(889-891)CCTfs p.P297fs MAGEA6_uc004ffr.1_Frame_Shift_Del_p.P297fs|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 297 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GTGGAGGACCTCGCATTTCCT 0.557 NA 39 346 --- --- --- --- NA NA NA NA NA